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	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	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_status	validation_method	validation_tumor_sample	validation_alt_allele
DVL1	1855	broad.mit.edu	37	1	1273615	1273615	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1273615delC	uc001aer.3	-						DVL1_uc002quu.2_Intron|DVL1_uc009vka.2_Intron|DVL1_uc001aeu.1_Intron	NM_004421	NP_004412			dishevelled 1						canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290110delG	uc001aew.2	-	5	932	c.901delC	c.(901-903)CGGfs	p.R301fs	MXRA8_uc001aex.3_Frame_Shift_Del_p.R301fs|MXRA8_uc001aey.3_Frame_Shift_Del_p.R301fs|MXRA8_uc010nyl.1_Frame_Shift_Del_p.R301fs|MXRA8_uc001aez.2_Frame_Shift_Del_p.R200fs|MXRA8_uc001afa.2_Frame_Shift_Del_p.R292fs	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290607	1290607	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290607delG	uc001aew.2	-						MXRA8_uc001aex.3_Intron|MXRA8_uc001aey.3_Intron|MXRA8_uc010nyl.1_Intron|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Intron	NM_032348	NP_115724			matrix-remodelling associated 8 precursor							integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6894337	6894337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6894337delT	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8616316	8616316	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8616316delA	uc001ape.2	-						RERE_uc001apf.2_Intron|RERE_uc001aph.1_Intron	NM_012102	NP_036234			atrophin-1 like protein isoform a						multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RBP7	116362	broad.mit.edu	37	1	10068112	10068113	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10068112_10068113delAA	uc001aqq.2	+						RBP7_uc009vms.2_Intron	NM_052960	NP_443192			retinol binding protein 7, cellular							cytoplasm	retinal binding|retinol binding|transporter activity				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)													---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187619	11187619	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187619delT	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11314203	11314203	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11314203delT	uc001asd.2	-							NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	13123163	13123163	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:13123163delA								PRAMEF5 (5412 upstream) : LOC440563 (59798 downstream)																																			---	---	---	---
CLCNKA	1187	broad.mit.edu	37	1	16355578	16355578	+	Intron	DEL	G	-	-	rs71774158		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16355578delG	uc001axu.2	+						CLCNKA_uc001axt.2_Intron|CLCNKA_uc001axv.2_Intron|CLCNKA_uc010obw.1_Intron|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Intron|CLCNKA_uc010oby.1_Intron	NM_004070	NP_004061			chloride channel Ka isoform 1						excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)													---	---	---	---
TMEM50A	23585	broad.mit.edu	37	1	25679545	25679545	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25679545delT	uc001bke.2	+						TMEM50A_uc010oeq.1_Intron|TMEM50A_uc009vrr.2_Intron|TMEM50A_uc009vrs.2_Intron	NM_014313	NP_055128			small membrane protein 1							endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)														---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26624607	26624608	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26624607_26624608insG	uc001blw.2	-						UBXN11_uc001blz.1_Intron|UBXN11_uc001blv.2_Intron|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Intron|UBXN11_uc001bmb.1_Intron|UBXN11_uc010ofb.1_Intron|UBXN11_uc010ofc.1_Intron	NM_183008	NP_892120			socius isoform 2							cytoplasm|cytoskeleton				ovary(1)	1																		---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	-	-	rs140055856		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105931delG	uc001bmv.1	+	20	5915	c.5542delG	c.(5542-5544)GGGfs	p.G1848fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1631fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G694fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G176fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G90fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1848					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
FAM76A	199870	broad.mit.edu	37	1	28086990	28086990	+	Intron	DEL	T	-	-	rs111588196		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28086990delT	uc001boq.2	+						FAM76A_uc001bor.2_Intron|FAM76A_uc001bos.2_Intron|FAM76A_uc001bot.2_Intron|FAM76A_uc010ofm.1_Intron	NM_152660	NP_689873			hypothetical protein LOC199870 isoform 3												0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32631599	32631599	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32631599delA	uc001bug.2	+						KPNA6_uc001buh.2_Intron|KPNA6_uc010ogx.1_Intron|KPNA6_uc010ogy.1_Intron|KPNA6_uc009vtz.2_Intron	NM_012316	NP_036448			karyopherin alpha 6						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38170966	38170966	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38170966delT	uc001cbr.2	+						CDCA8_uc001cbs.2_Intron|CDCA8_uc010oih.1_Intron	NM_018101	NP_060571			cell division cycle associated 8						cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40767618	40767618	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40767618delT	uc001cfh.1	-						COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843			alpha 2 type IX collagen precursor						axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)															---	---	---	---
PPCS	79717	broad.mit.edu	37	1	42925658	42925658	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42925658delA	uc001chl.2	+	3					PPCS_uc001chk.2_3'UTR	NM_024664	NP_078940			phosphopantothenoylcysteine synthetase isoform						coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44421863	44421863	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44421863delT	uc001ckx.2	+							NM_014652	NP_055467			importin 13						protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45111159	45111162	+	Splice_Site	DEL	AAGT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45111159_45111162delAAGT	uc001clv.1	+	12	1805	c.1445_splice	c.e12+1	p.K482_splice	RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620			ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	45287583	45287583	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45287583delA								BTBD19 (7782 upstream) : PTCH2 (505 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	1	51662882	51662882	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51662882delA								C1orf185 (49130 upstream) : RNF11 (39063 downstream)																																			---	---	---	---
TXNDC12	51060	broad.mit.edu	37	1	52520880	52520880	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52520880delT	uc001cti.2	-	1					BTF3L4_uc001ctk.2_5'Flank|BTF3L4_uc001ctl.2_5'Flank|BTF3L4_uc010onh.1_5'Flank	NM_015913	NP_056997			thioredoxin domain containing 12 precursor						activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1																		---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52923972	52923972	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52923972delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc009vze.1_Intron|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cua.1_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
C1orf175	374977	broad.mit.edu	37	1	55174883	55174886	+	Intron	DEL	TTTG	-	-	rs72066570		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55174883_55174886delTTTG	uc010ooe.1	+						C1orf175_uc001cxq.2_Intron|C1orf175_uc001cxs.2_Intron|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_Intron|C1orf175_uc009vzr.1_Intron	NM_001039464	NP_001034553			hypothetical protein LOC374977							integral to membrane	binding				0																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55573113	55573113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55573113delA	uc001cyg.3	-							NM_015306	NP_056121			ubiquitin specific protease 24						ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57189194	57189194	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57189194delT	uc001cym.3	-						C1orf168_uc001cyl.2_Intron	NM_001004303	NP_001004303			hypothetical protein LOC199920											ovary(3)|skin(2)	5																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62380193	62380193	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62380193delA	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_Intron	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64033964	64033964	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64033964delT	uc001dbf.2	+							NM_032437	NP_115813			EF-hand calcium binding domain 7								calcium ion binding				0																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65874626	65874627	+	Intron	INS	-	T	T	rs140651200	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65874626_65874627insT	uc001dcd.1	+						DNAJC6_uc010opc.1_Intron|DNAJC6_uc001dce.1_Intron	NM_014787	NP_055602			DnaJ (Hsp40) homolog, subfamily C, member 6						cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67206270	67206270	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67206270delA	uc001dcr.2	+						SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Intron|SGIP1_uc001dcu.2_Intron	NM_032291	NP_115667			SH3-domain GRB2-like (endophilin) interacting						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70616970	70616970	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70616970delA	uc001der.1	-							NM_017768	NP_060238			leucine rich repeat containing 40											ovary(1)	1																		---	---	---	---
ANKRD13C	81573	broad.mit.edu	37	1	70766400	70766400	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70766400delT	uc001dex.3	-						ANKRD13C_uc009wbk.2_Intron	NM_030816	NP_110443			ankyrin repeat domain 13C						protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0																		---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78046892	78046892	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78046892delT	uc001dhq.2	-						ZZZ3_uc001dhr.2_Intron|ZZZ3_uc001dhp.2_Intron	NM_015534	NP_056349			zinc finger, ZZ-type containing 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78188044	78188044	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78188044delA	uc001dht.2	-						USP33_uc001dhs.2_Intron|USP33_uc001dhu.2_Intron|USP33_uc001dhv.2_Intron|USP33_uc001dhw.2_Intron	NM_015017	NP_055832			ubiquitin specific protease 33 isoform 1						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	79132403	79132404	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:79132403_79132404delAA								IFI44 (2642 upstream) : ELTD1 (223047 downstream)																																			---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84986284	84986284	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84986284delT	uc001djz.1	+	3	318	c.119delT	c.(118-120)GTTfs	p.V40fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.V40fs|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84991354	84991354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84991354delT	uc001djz.1	+						SPATA1_uc001djx.2_Intron|SPATA1_uc001djy.1_Intron	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020568	85020568	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020568delT	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447354	92447354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92447354delT	uc001dok.3	+						BRDT_uc001dol.3_Intron|BRDT_uc010osz.1_Intron|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Intron	NM_207189	NP_997072			testis-specific bromodomain protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
DR1	1810	broad.mit.edu	37	1	93826012	93826012	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93826012delA	uc001dpu.2	+						DR1_uc010otj.1_Intron	NM_001938	NP_001929			down-regulator of transcription 1						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity				0		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)														---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94685958	94685959	+	Intron	INS	-	A	A	rs149426255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94685958_94685959insA	uc001dqj.3	-						ARHGAP29_uc009wdq.1_Intron|ARHGAP29_uc001dql.2_Intron	NM_004815	NP_004806			PTPL1-associated RhoGAP 1						Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97700330	97700331	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97700330_97700331delTT	uc001drv.2	-							NM_000110	NP_000101			dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98157374	98157374	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:98157374delA	uc001drv.2	-						DPYD_uc010oub.1_Intron	NM_000110	NP_000101			dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107691083	107691083	+	5'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107691083delA	uc001dvh.3	+	2					NTNG1_uc001dvf.3_5'UTR|NTNG1_uc010out.1_5'UTR|NTNG1_uc001dvc.3_5'UTR|NTNG1_uc001dvd.1_5'UTR	NM_001113226	NP_001106697			netrin G1 isoform 1						axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108315260	108315260	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:108315260delA	uc001dvk.1	-						VAV3_uc010ouw.1_Intron|VAV3_uc001dvl.1_Intron|VAV3_uc010oux.1_Intron	NM_006113	NP_006104			vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)														---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113635953	113635953	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113635953delT	uc001edf.1	+						LRIG2_uc009wgn.1_Intron	NM_014813	NP_055628			leucine-rich repeats and immunoglobulin-like							cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114414022	114414022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114414022delT	uc001eds.2	-						uc001edv.1_Intron|PTPN22_uc009wgq.2_Intron|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Intron|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Intron	NM_015967	NP_057051			protein tyrosine phosphatase, non-receptor type						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114976131	114976131	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114976131delA	uc001eew.2	-						TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120510373	120510373	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120510373delT	uc001eik.2	-						NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron	NM_024408	NP_077719			notch 2 preproprotein						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)				N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144863860	144863861	+	Intron	INS	-	T	T	rs137857731		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144863860_144863861insT	uc001elw.3	-						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Intron|PDE4DIP_uc001ema.2_3'UTR	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145645968	145645968	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145645968delA	uc001emp.3	+						RNF115_uc001eoj.2_Intron|RNF115_uc001eok.2_Intron|RNF115_uc009wiy.2_Intron	NM_017940	NP_060410			hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---
PRKAB2	5565	broad.mit.edu	37	1	146639187	146639187	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146639187delA	uc001epe.2	-						PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Intron	NM_005399	NP_005390			AMP-activated protein kinase beta 2						carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)													---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146731281	146731282	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146731281_146731282delAA	uc001epm.3	+						uc001epp.2_RNA|CHD1L_uc001epn.3_Intron|CHD1L_uc010ozo.1_Intron|CHD1L_uc009wjg.2_Intron|CHD1L_uc009wjh.2_Intron|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron	NM_004284	NP_004275			chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146739195	146739195	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146739195delC	uc001epm.3	+						uc001epp.2_Intron|CHD1L_uc001epn.3_Intron|CHD1L_uc010ozo.1_Intron|CHD1L_uc009wjg.2_Intron|CHD1L_uc009wjh.2_Intron|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron|CHD1L_uc010ozq.1_Intron|CHD1L_uc009wji.2_Intron	NM_004284	NP_004275			chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
NBPF16	728936	broad.mit.edu	37	1	148756337	148756337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148756337delT	uc010pba.1	+						NBPF16_uc009wkt.1_Intron	NM_001102663	NP_001096133			hypothetical protein LOC728936												0	all_hematologic(923;0.032)																	---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151079397	151079397	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151079397delT	uc001ewr.2	+						GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219			GA repeat binding protein, beta 2						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)														---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152383567	152383567	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152383567delT	uc001ezx.2	-							NM_016190	NP_057274			cornulin						cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	154350594	154350595	+	IGR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154350594_154350595delTT								ATP8B2 (26815 upstream) : IL6R (27074 downstream)																																			---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155695905	155695907	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155695905_155695907delTTT	uc001flq.2	+						DAP3_uc001flr.2_Intron|DAP3_uc001fls.2_Intron|DAP3_uc010pgl.1_Intron|DAP3_uc001flt.2_Intron|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Intron	NM_033657	NP_387506			death-associated protein 3						induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	156316804	156316805	+	IGR	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156316804_156316805delCT								C1orf182 (21 upstream) : RHBG (22198 downstream)																																			---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156836529	156836529	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156836529delC	uc001fqh.1	+						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Intron|NTRK1_uc009wsk.1_Intron	NM_002529	NP_002520			neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156908113	156908114	+	Intron	INS	-	GT	GT			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156908113_156908114insGT	uc001fqo.2	-						ARHGEF11_uc010phu.1_Intron|ARHGEF11_uc001fqn.2_Intron|MIR765_hsa-mir-765|MI0005116_5'Flank	NM_014784	NP_055599			Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157519226	157519226	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157519226delA	uc001fqu.2	-						FCRL5_uc009wsm.2_Intron|FCRL5_uc010phv.1_Intron|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Intron|FCRL5_uc010phx.1_Intron	NM_031281	NP_112571			Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160582201	160582201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160582201delA	uc001fwl.3	-						SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028			signaling lymphocytic activation molecule family						interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD247	919	broad.mit.edu	37	1	167487830	167487830	+	5'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167487830delG	uc001gei.3	-	1					CD247_uc001gej.3_5'UTR|CD247_uc001gek.2_5'UTR	NM_198053	NP_932170			T-cell receptor zeta chain isoform 1 precursor						interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)															---	---	---	---
F5	2153	broad.mit.edu	37	1	169484915	169484915	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169484915delT	uc001ggg.1	-							NM_000130	NP_000121			coagulation factor V precursor						cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
C1orf112	55732	broad.mit.edu	37	1	169801720	169801720	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169801720delT	uc001ggp.2	+						C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggq.2_Intron|C1orf112_uc009wvt.2_Intron|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.2_Intron|C1orf112_uc010plv.1_Intron	NM_018186	NP_060656			hypothetical protein LOC55732												0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171536062	171536062	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171536062delT	uc010pmg.1	+						BAT2L2_uc010pmh.1_Intron|BAT2L2_uc010pmi.1_Intron	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172569120	172569120	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172569120delT	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172571102	172571102	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172571102delA	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173702733	173702733	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173702733delA	uc001gjc.2	+						KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Intron|KLHL20_uc001gjd.2_Intron	NM_014458	NP_055273			kelch-like 20						cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179956362	179956362	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179956362delT	uc001gnt.2	+						CEP350_uc001gnr.1_Intron|CEP350_uc009wxl.2_Intron	NM_014810	NP_055625			centrosome-associated protein 350							centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180404392	180404392	+	Intron	DEL	T	-	-	rs114573269	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180404392delT	uc001gog.2	-							NM_032360	NP_115736			acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
MR1	3140	broad.mit.edu	37	1	181003006	181003006	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181003006delT	uc001goq.1	+						MR1_uc001gop.2_5'Flank|MR1_uc001gor.1_5'Flank|MR1_uc001gos.1_5'Flank|MR1_uc010pns.1_5'Flank	NM_001531	NP_001522			major histocompatibility complex, class						antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1																		---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183775705	183775707	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183775705_183775707delTTT	uc001gqo.2	+						RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron|RGL1_uc010poi.1_Intron	NM_015149	NP_055964			ral guanine nucleotide dissociation						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11																		---	---	---	---
C1orf26	54823	broad.mit.edu	37	1	185140797	185140797	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185140797delT	uc001grg.3	+						C1orf26_uc001grh.3_Intron	NM_001105518	NP_001098988			hypothetical protein LOC54823												0																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186076225	186076225	+	Intron	DEL	T	-	-	rs79076408		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186076225delT	uc001grq.1	+							NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186300536	186300536	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186300536delA	uc001grv.2	-							NM_003292	NP_003283			nuclear pore complex-associated protein TPR						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200632979	200632979	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200632979delA	uc009wzk.2	-						DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895			DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200801614	200801614	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200801614delT	uc001gvl.2	+						CAMSAP1L1_uc001gvk.2_Intron|CAMSAP1L1_uc001gvm.2_Intron	NM_203459	NP_982284			calmodulin regulated spectrin-associated protein							cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200816521	200816521	+	Intron	DEL	G	-	-	rs2172666		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200816521delG	uc001gvl.2	+						CAMSAP1L1_uc001gvk.2_Intron|CAMSAP1L1_uc001gvm.2_Intron	NM_203459	NP_982284			calmodulin regulated spectrin-associated protein							cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	201997689	201997689	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201997689delA								ELF3 (11383 upstream) : GPR37L1 (94340 downstream)																																			---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205802017	205802017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205802017delT	uc001hdj.2	-						PM20D1_uc009xbr.2_Intron	NM_152491	NP_689704			peptidase M20 domain containing 1 precursor							extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)															---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213173991	213173991	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213173991delA	uc001hjz.2	-						ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron	NM_144567	NP_653168			LOC90806 protein												0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213290507	213290507	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213290507delT	uc010ptr.1	+						RPS6KC1_uc001hkd.2_Intron|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Intron	NM_012424	NP_036556			ribosomal protein S6 kinase, 52kDa, polypeptide						cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218520021	218520021	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:218520021delT	uc001hlm.2	+	1					TGFB2_uc001hll.2_5'UTR|TGFB2_uc001hln.2_5'UTR|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229			transforming growth factor, beta 2 isoform 2						activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	219745879	219745880	+	IGR	INS	-	AGGA	AGGA			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:219745879_219745880insAGGA								LYPLAL1 (359673 upstream) : SLC30A10 (112889 downstream)																																			---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324483	220324483	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324483delA	uc010puk.1	-	35					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_3'UTR|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546			rab3 GTPase-activating protein, non-catalytic						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220789238	220789238	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220789238delT	uc001hmn.3	+						MARK1_uc009xdw.2_Intron|MARK1_uc010pun.1_Intron|MARK1_uc001hmm.3_Intron	NM_018650	NP_061120			MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225695604	225695604	+	Intron	DEL	T	-	-	rs76873734		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:225695604delT	uc001hpc.1	-						ENAH_uc001hpd.1_Intron|ENAH_uc001hpb.1_Intron	NM_001008493	NP_001008493			enabled homolog isoform a						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)														---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227213676	227213676	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227213676delA	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqt.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227235587	227235587	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227235587delT	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
URB2	9816	broad.mit.edu	37	1	229770586	229770586	+	Intron	DEL	T	-	-	rs113038970		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229770586delT	uc001hts.1	+						URB2_uc009xfd.1_Intron	NM_014777	NP_055592			URB2 ribosome biogenesis 2 homolog							nucleolus				central_nervous_system(2)|ovary(1)	3																		---	---	---	---
C1orf124	83932	broad.mit.edu	37	1	231475707	231475707	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231475707delA	uc001hur.2	+						EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Intron|C1orf124_uc001hut.2_Intron	NM_032018	NP_114407			hypothetical protein LOC83932 isoform a						DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)																---	---	---	---
DISC1	27185	broad.mit.edu	37	1	232094760	232094760	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232094760delA	uc001huz.2	+						TSNAX-DISC1_uc010pwl.1_Intron|DISC1_uc010pxb.1_3'UTR|DISC1_uc010pxc.1_3'UTR|DISC1_uc010pxd.1_Intron|DISC1_uc010pxe.1_Intron|DISC1_uc009xfr.2_Intron|DISC1_uc010pxf.1_Intron|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Intron|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Intron|DISC1_uc010pxk.1_Intron|DISC1_uc010pxl.1_Intron|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Intron|DISC1_uc001hva.2_Intron	NM_018662	NP_061132			disrupted in schizophrenia 1 isoform L						microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)																---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233512089	233512089	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233512089delA	uc001hvt.3	+						KIAA1804_uc001hvu.3_Intron	NM_032435	NP_115811			mixed lineage kinase 4						activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---
LYST	1130	broad.mit.edu	37	1	235850457	235850457	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235850457delT	uc001hxj.2	-						LYST_uc001hxi.2_Intron	NM_000081	NP_000072			lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
LYST	1130	broad.mit.edu	37	1	235993743	235993743	+	Intron	DEL	A	-	-	rs72106995		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235993743delA	uc001hxj.2	-						LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Intron|LYST_uc001hxm.2_Intron|LYST_uc001hxn.1_Intron	NM_000081	NP_000072			lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
NID1	4811	broad.mit.edu	37	1	236180690	236180690	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236180690delT	uc001hxo.2	-						NID1_uc009xgd.2_Intron	NM_002508	NP_002499			nidogen 1 precursor						cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236393400	236393400	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236393400delT	uc001hxt.2	-							NM_019891	NP_063944			endoplasmic reticulum oxidoreductin 1-Lbeta						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236750617	236750617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236750617delA	uc001hyd.1	-							NM_018072	NP_060542			protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237819091	237819091	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237819091delT	uc001hyl.1	+							NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243327520	243327520	+	Intron	DEL	A	-	-	rs1815604	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243327520delA	uc001hzs.2	-						CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627			centrosomal protein 170kDa isoform alpha							centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)															---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248247982	248247982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248247982delT	uc001ids.2	+							NM_175911	NP_787107			olfactory receptor, family 2, subfamily L,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)															---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10101687	10101688	+	Intron	DEL	TT	-	-	rs138724700		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10101687_10101688delTT	uc002raa.2	+						GRHL1_uc002rab.2_Intron|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Intron	NM_198182	NP_937825			grainyhead-like 1						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24841615	24841615	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24841615delT	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24949704	24949708	+	Intron	DEL	AAAAA	-	-	rs71960773		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24949704_24949708delAAAAA	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26503128	26503128	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26503128delA	uc002rgz.2	+						HADHB_uc010ykv.1_Intron|HADHB_uc010ykw.1_Intron|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Intron	NM_000183	NP_000174			mitochondrial trifunctional protein, beta						fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CIB4	130106	broad.mit.edu	37	2	26863928	26863928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26863928delT	uc002rhm.2	-							NM_001029881	NP_001025052			calcium and integrin binding family member 4								calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27279300	27279300	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27279300delA	uc002rie.2	+						AGBL5_uc002ric.2_3'UTR|AGBL5_uc002rid.2_Intron|AGBL5_uc002rif.2_Intron	NM_021831	NP_068603			ATP/GTP binding protein-like 5 isoform 1						protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27305786	27305786	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27305786delG	uc002rii.3	+	4	1775	c.1347delG	c.(1345-1347)TTGfs	p.L449fs	EMILIN1_uc010eyq.1_Frame_Shift_Del_p.L449fs|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	449					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
FNDC4	64838	broad.mit.edu	37	2	27717144	27717145	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27717144_27717145insC	uc002rkx.2	-						GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734			fibronectin type III domain containing 4							integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30999024	30999024	+	Intron	DEL	T	-	-	rs11318503		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30999024delT	uc002rnn.2	-						CAPN13_uc002rnp.1_Intron	NM_144575	NP_653176			calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32626139	32626139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32626139delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32828247	32828247	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32828247delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36737453	36737453	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36737453delA	uc002rpd.2	+							NM_016441	NP_057525			cysteine-rich motor neuron 1 precursor						nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37232731	37232732	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37232731_37232732insA	uc002rpp.1	-						HEATR5B_uc010ezy.1_Intron	NM_019024	NP_061897			HEAT repeat containing 5B								binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39507306	39507306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39507306delT	uc002rro.2	-						MAP4K3_uc002rrp.2_Intron|MAP4K3_uc010yns.1_Intron	NM_003618	NP_003609			mitogen-activated protein kinase kinase kinase						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
EML4	27436	broad.mit.edu	37	2	42508205	42508205	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42508205delA	uc002rsi.2	+						EML4_uc010fap.2_Intron	NM_019063	NP_061936			echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
COX7A2L	9167	broad.mit.edu	37	2	42578275	42578275	+	3'UTR	DEL	A	-	-	rs71682791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42578275delA	uc002rsk.2	-	3					COX7A2L_uc002rsl.2_RNA	NM_004718	NP_004709			cytochrome c oxidase subunit VIIa polypeptide 2						respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0																		---	---	---	---
C2orf34	79823	broad.mit.edu	37	2	44931581	44931581	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44931581delA	uc002rum.2	+							NM_024766	NP_079042			hypothetical protein LOC79823							cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53897896	53897896	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53897896delT	uc002rxg.1	-						ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc002rxf.1_Intron	NM_016115	NP_057199			ankyrin repeat and SOCS box-containing protein 3						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54127178	54127178	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54127178delA	uc002rxp.2	-						PSME4_uc010yop.1_Intron|PSME4_uc010yoq.1_Intron|PSME4_uc010fbu.1_Intron|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429			proteasome (prosome, macropain) activator						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55894901	55894902	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55894901_55894902insA	uc002rzf.2	-						PNPT1_uc002rzg.2_Intron	NM_033109	NP_149100			polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	60910327	60910328	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60910327_60910328insG								BCL11A (129694 upstream) : PAPOLG (73055 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	68675338	68675339	+	IGR	INS	-	G	G	rs112647784	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68675338_68675339insG								PLEK (50754 upstream) : FBXO48 (14168 downstream)																																			---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69298960	69298960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69298960delT	uc002sfg.2	+						ANTXR1_uc002sfe.2_Intron|ANTXR1_uc002sff.2_Intron|ANTXR1_uc002sfd.2_Intron	NM_032208	NP_115584			anthrax toxin receptor 1 isoform 1 precursor						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
FIGLA	344018	broad.mit.edu	37	2	71014775	71014776	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71014775_71014776insT	uc002she.1	-							NM_001004311	NP_001004311			factor in the germline alpha						multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73826304	73826304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73826304delT	uc002sje.1	+						ALMS1_uc002sjf.1_Intron|ALMS1_uc002sjh.1_Intron	NM_015120	NP_055935			Alstrom syndrome 1						G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SUCLG1	8802	broad.mit.edu	37	2	84658555	84658555	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84658555delA	uc002son.2	-							NM_003849	NP_003840			succinate-CoA ligase, GDP-forming alpha subunit						tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)													---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	87110598	87110598	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87110598delT	uc002srs.3	+						uc010fgu.1_Intron					SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1;											ovary(1)|skin(1)	2																		---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	87397713	87397714	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87397713_87397714delTC	uc002srs.3	+											SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1;											ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	88292400	88292400	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88292400delA								RMND5A (253634 upstream) : KRCC1 (34324 downstream)																																			---	---	---	---
FAHD2A	51011	broad.mit.edu	37	2	96073059	96073059	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96073059delA	uc002sur.2	+						FAHD2A_uc002sus.2_Intron	NM_016044	NP_057128			fumarylacetoacetate hydrolase domain containing								hydrolase activity|metal ion binding			ovary(1)	1																		---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97020221	97020221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97020221delT	uc002svz.1	+						NCAPH_uc010fhu.1_Intron|NCAPH_uc010fhv.1_Intron|NCAPH_uc010yum.1_Intron|NCAPH_uc010fhw.1_Intron|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156			non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)																---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98779625	98779626	+	Intron	DEL	TG	-	-	rs112049891		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98779625_98779626delTG	uc002syo.2	+						VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_Intron|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Intron|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Intron	NM_144992	NP_659429			von Willebrand factor A domain containing 3B											ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99985818	99985818	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99985818delA	uc002tab.2	+							NM_015904	NP_056988			eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL1R1	3554	broad.mit.edu	37	2	102781255	102781255	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102781255delA	uc002tbq.2	+	4	401	c.83delA	c.(82-84)GAAfs	p.E28fs	IL1R1_uc010fix.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbp.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbr.2_Frame_Shift_Del_p.E28fs	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	28	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)													---	---	---	---
Unknown	0	broad.mit.edu	37	2	106987360	106987360	+	IGR	DEL	T	-	-	rs78019139		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106987360delT								UXS1 (176565 upstream) : PLGLA (15409 downstream)																																			---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108453048	108453048	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108453048delT	uc010ywk.1	+						RGPD4_uc002tdu.2_5'Flank	NM_182588	NP_872394			RANBP2-like and GRIP domain containing 4						intracellular transport		binding			skin(2)	2																		---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109089258	109089258	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109089258delT	uc002tec.2	+						GCC2_uc002ted.2_Intron	NM_181453	NP_852118			GRIP and coiled-coil domain-containing 2						Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1																		---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	109868231	109868231	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109868231delA	uc010ywt.1	+							NM_001099289	NP_001092759			SH3 domain containing ring finger 3								zinc ion binding			ovary(1)	1																		---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113316706	113316706	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113316706delT	uc002thw.2	+						POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_Intron|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Intron|POLR1B_uc002thy.2_Intron|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887			RNA polymerase I polypeptide B isoform 1						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113496662	113496663	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113496662_113496663insT	uc002tie.2	-						CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Intron|uc002tid.2_Intron	NM_152515	NP_689728			cytoskeleton associated protein 2-like							centrosome					0																		---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118865677	118865677	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118865677delT	uc002tlk.2	+						INSIG2_uc010yye.1_Intron|INSIG2_uc002tll.2_Intron	NM_016133	NP_057217			insulin induced protein 2						ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	130750777	130750777	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130750777delC								RAB6C (10466 upstream) : LOC440905 (32795 downstream)																																			---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131128612	131128612	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131128612delC	uc002trc.2	+						PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Intron|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184			protein tyrosine phosphatase, non-receptor type							cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)																	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131129929_131129934delGACGGG	uc002trc.2	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)CAGACGGGG>CAG	p.TG378del	PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	378_379				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)																	---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135700158	135700158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135700158delA	uc002tuc.1	+						CCNT2_uc002tub.1_Intron|CCNT2_uc010zbf.1_Intron|CCNT2_uc002tud.1_Intron	NM_058241	NP_490595			cyclin T2 isoform b						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135870879	135870879	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135870879delT	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136622865	136622865	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136622865delA	uc002tuw.2	-							NM_005915	NP_005906			minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)													---	---	---	---
DARS	1615	broad.mit.edu	37	2	136673772	136673772	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136673772delA	uc002tux.1	-						DARS_uc010fnj.1_Intron	NM_001349	NP_001340			aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)													---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138000234	138000234	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138000234delT	uc002tva.1	+						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	143612810	143612810	+	IGR	DEL	A	-	-	rs113478040		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:143612810delA								LRP1B (723540 upstream) : KYNU (22385 downstream)																																			---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144313915	144313915	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144313915delT	uc002tvm.3	+						ARHGAP15_uc002tvn.2_Intron	NM_018460	NP_060930			ARHGAP15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149864394	149864394	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149864394delT	uc010zbu.1	+						KIF5C_uc002tws.1_Intron|KIF5C_uc002twu.1_Intron	NM_004522	NP_004513			kinesin family member 5C						microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331352	152331352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152331352delT	uc002txm.2	+						RIF1_uc002txl.2_Intron|RIF1_uc002txn.2_Intron|RIF1_uc002txo.2_Intron|RIF1_uc002txp.2_Intron|uc010fnw.1_5'Flank	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153512706	153512706	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153512706delT	uc002tyh.3	-	26					PRPF40A_uc002tyg.3_3'UTR	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162903784	162903784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162903784delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162904110	162904110	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162904110delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165971884	165971884	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165971884delT	uc002ucx.2	-						SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853			sodium channel, voltage-gated, type III, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012667	170012667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012667delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170033201	170033201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170033201delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170058057	170058057	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170058057delT	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171248018	171248018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171248018delT	uc002ufy.2	+						MYO3B_uc002ufv.2_Intron|MYO3B_uc010fqb.1_Intron|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_Intron|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	NM_138995	NP_620482			myosin IIIB isoform 2						response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172650406	172650407	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172650406_172650407insT	uc002uhh.2	-						SLC25A12_uc010fqh.2_Intron	NM_003705	NP_003696			solute carrier family 25, member 12						gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)													---	---	---	---
Unknown	0	broad.mit.edu	37	2	173020728	173020728	+	IGR	DEL	T	-	-	rs35217322	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173020728delT								DLX2 (53250 upstream) : ITGA6 (271354 downstream)																																			---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995902	176995903	+	Intron	INS	-	TA	TA	rs138795034	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176995902_176995903insTA	uc002uko.2	+						uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Intron	NM_019558	NP_062458			homeobox D8						anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054889	177054889	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177054889delA	uc002ukv.3	+	2					HOXD1_uc010fqy.2_3'UTR|HOXD1_uc010zez.1_3'UTR	NM_024501	NP_078777			homeobox D1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)														---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178301396	178301396	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178301396delA	uc002ull.2	+						AGPS_uc010zfb.1_Intron	NM_003659	NP_003650			alkyldihydroxyacetone phosphate synthase						ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179258982	179258982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179258982delT	uc002ulx.2	+						OSBPL6_uc002uly.2_Intron|OSBPL6_uc010zfe.1_Intron|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Intron	NM_032523	NP_115912			oxysterol-binding protein-like protein 6 isoform						lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180829240	180829241	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180829240_180829241insA	uc010frh.1	-						CWC22_uc002unp.2_Intron	NM_020943	NP_065994			CWC22 spliceosome-associated protein homolog							catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
UBE2E3	10477	broad.mit.edu	37	2	181925322	181925322	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:181925322delT	uc002unq.1	+						UBE2E3_uc002unr.1_Intron|UBE2E3_uc010fri.1_Intron	NM_182678	NP_872619			ubiquitin-conjugating enzyme E2E 3						protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188224010	188224011	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:188224010_188224011delAA	uc002upv.3	-						CALCRL_uc010frt.2_Intron	NM_005795	NP_005786			calcitonin receptor-like precursor							integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192278713	192278713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192278713delT	uc010fsg.2	+						MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Intron|MYO1B_uc002usu.2_Intron|MYO1B_uc002usv.2_Intron	NM_001130158	NP_001123630			myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198262678	198262678	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198262678delT	uc002uue.2	-							NM_012433	NP_036565			splicing factor 3b, subunit 1 isoform 1						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206988816	206988816	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206988816delT	uc002vbe.2	-	19					NDUFS1_uc010ziq.1_3'UTR|NDUFS1_uc010zir.1_3'UTR|NDUFS1_uc010zis.1_3'UTR|NDUFS1_uc010zit.1_3'UTR|NDUFS1_uc010ziu.1_3'UTR	NM_005006	NP_004997			NADH dehydrogenase (ubiquinone) Fe-S protein 1,						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209167216	209167216	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209167216delT	uc002vcz.2	+						PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Intron|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855			phosphatidylinositol-3-phosphate 5-kinase type						cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210561667	210561667	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210561667delA	uc002vde.1	+	9	4662	c.4414delA	c.(4414-4416)AAAfs	p.K1472fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Del_p.K1468fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1472					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211481424	211481426	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211481424_211481426delTTT	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_Intron|LOC29034_uc002vef.2_5'Flank	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
NHEJ1	79840	broad.mit.edu	37	2	220022695	220022698	+	Intron	DEL	TCTC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220022695_220022698delTCTC	uc002vjp.3	-						NHEJ1_uc002vjq.3_Intron	NM_024782	NP_079058			nonhomologous end-joining factor 1						B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)									Direct_reversal_of_damage|NHEJ					---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220166975	220166976	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220166975_220166976insC	uc002vkz.2	-	6	966_967	c.877_878insG	c.(877-879)GTGfs	p.V293fs	PTPRN_uc010zlc.1_Frame_Shift_Ins_p.V203fs|PTPRN_uc002vla.2_Frame_Shift_Ins_p.V293fs	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	293	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227872647	227872647	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227872647delA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227973598	227973599	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227973598_227973599insA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228388444	228388444	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228388444delT	uc002vpc.2	+						AGFG1_uc002vpd.2_Intron|AGFG1_uc002vpe.2_Intron|AGFG1_uc002vpf.2_Intron	NM_004504	NP_004495			HIV-1 Rev binding protein isoform 2						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230910277	230910278	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230910277_230910278delAA	uc002vqd.1	-						FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740			solute carrier family 16 (monocarboxylic acid							integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231065504	231065504	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231065504delA	uc002vqh.3	-						SP110_uc002vqg.3_Intron|SP110_uc002vqi.3_Intron|SP110_uc010fxk.2_Intron|SP110_uc010fxj.2_Intron	NM_004509	NP_004500			SP110 nuclear body protein isoform a						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238277153	238277154	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238277153_238277154delAA	uc002vwl.2	-						COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron	NM_004369	NP_004360			alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238436313	238436313	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238436313delT	uc002vwt.2	+						MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron	NM_024101	NP_077006			melanophilin isoform 1								metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021599	242021599	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021599delC	uc002wah.1	+						SNED1_uc002wai.1_Intron|SNED1_uc002waj.1_Intron	NM_001080437	NP_001073906			6720455I24Rik homolog precursor						cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SEPT2	4735	broad.mit.edu	37	2	242282913	242282913	+	Intron	DEL	A	-	-	rs71967730		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242282913delA	uc002wbc.2	+						SEPT2_uc002wbd.2_Intron|SEPT2_uc002wbf.2_Intron|SEPT2_uc002wbg.2_Intron|SEPT2_uc002wbh.2_Intron|SEPT2_uc010zop.1_Intron	NM_001008491	NP_001008491			septin 2						cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)														---	---	---	---
ATG4B	23192	broad.mit.edu	37	2	242593946	242593946	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242593946delT	uc002wbv.2	+						ATG4B_uc002wbu.2_Intron|ATG4B_uc002wbw.2_Intron|ATG4B_uc010zox.1_Intron|ATG4B_uc010zoy.1_Intron|ATG4B_uc010fzp.2_Intron|ATG4B_uc010zoz.1_Intron	NM_013325	NP_037457			APG4 autophagy 4 homolog B isoform a						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)														---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4452827	4452827	+	Intron	DEL	T	-	-	rs72240947		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4452827delT	uc003bpz.1	-						SUMF1_uc003bps.1_Intron|SUMF1_uc011ass.1_Intron|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Intron	NM_182760	NP_877437			sulfatase modifying factor 1 isoform 1							endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4669682	4669682	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4669682delT	uc003bqa.2	+						ITPR1_uc010hbz.2_Intron|ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Intron	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
MTMR14	64419	broad.mit.edu	37	3	9739253	9739254	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9739253_9739254delTT	uc003brz.2	+						MTMR14_uc003bsa.2_Intron|MTMR14_uc003bsb.2_Intron|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_Intron	NM_001077525	NP_001070993			jumpy isoform 2							perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)																	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10427117	10427117	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10427117delA	uc003bvt.2	-						ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331			plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17077460	17077460	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17077460delT	uc011awc.1	+						PLCL2_uc011awd.1_Intron	NM_001144382	NP_001137854			phospholipase C-like 2 isoform 1						intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
CMTM8	152189	broad.mit.edu	37	3	32301786	32301786	+	Intron	DEL	A	-	-	rs6796318	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32301786delA	uc003cex.2	+						CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199			CKLF-like MARVEL transmembrane domain containing						chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37032586	37032586	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37032586delA	uc003cgk.2	-	1					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620			EPM2A interacting protein 1							endoplasmic reticulum					0																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37547431	37547431	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37547431delT	uc003chd.2	+						ITGA9_uc003chc.2_Intron	NM_002207	NP_002198			integrin, alpha 9 precursor						axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44868019	44868019	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44868019delT	uc003cnx.3	+						KIF15_uc010hiq.2_Intron|KIF15_uc010hir.2_Intron	NM_020242	NP_064627			kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47752412	47752414	+	Intron	DEL	ATT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47752412_47752414delATT	uc003crq.2	-						SMARCC1_uc011bbd.1_Intron	NM_003074	NP_003065			SWI/SNF-related matrix-associated						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47963444	47963444	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47963444delT	uc003csb.2	-						MAP4_uc003csc.3_Intron|MAP4_uc011bbf.1_Intron|MAP4_uc003csf.3_Intron	NM_002375	NP_002366			microtubule-associated protein 4 isoform 1						negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)														---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49308392	49308392	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49308392delA	uc003cwn.2	-	3					C3orf62_uc003cwm.2_3'UTR	NM_198562	NP_940964			hypothetical protein LOC375341												0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50004794	50004794	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50004794delA	uc003cyc.2	+						RBM6_uc011bdh.1_Intron|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768			RNA binding motif protein 6						RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50142740	50142743	+	Intron	DEL	AAAA	-	-	rs77676195		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50142740_50142743delAAAA	uc003cyg.2	+						RBM5_uc011bdj.1_Intron|RBM5_uc011bdk.1_Intron	NM_005778	NP_005769			RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51417604delC	uc011bds.1	+	52	5572	c.5549delC	c.(5548-5550)ACCfs	p.T1850fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52662815	52662815	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52662815delG	uc003des.2	-						PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Intron|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Intron|PBRM1_uc003deu.2_Intron|PBRM1_uc003dev.2_Intron|PBRM1_uc003dew.2_Intron|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Intron|PBRM1_uc003dfb.1_Intron	NM_181042	NP_060635			polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52713877	52713879	+	5'Flank	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52713877_52713879delTTT	uc003des.2	-						PBRM1_uc003dex.2_5'Flank|PBRM1_uc003deq.2_5'Flank|PBRM1_uc003der.2_5'Flank|PBRM1_uc003det.2_5'Flank|PBRM1_uc003deu.2_5'Flank|PBRM1_uc003dev.2_5'Flank|PBRM1_uc003dew.2_5'Flank|PBRM1_uc010hmk.1_5'Flank|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_5'Flank|PBRM1_uc003dfb.1_5'Flank	NM_181042	NP_060635			polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52950388	52950396	+	Intron	DEL	TTTTTTTTA	-	-	rs71087030		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52950388_52950396delTTTTTTTTA	uc003dgf.2	-						SFMBT1_uc010hmr.2_Intron|SFMBT1_uc003dgg.2_Intron|SFMBT1_uc003dgh.2_Intron	NM_001005159	NP_001005159			Scm-like with four mbt domains 1						regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57494742	57494742	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57494742delT	uc003dit.2	-						DNAH12_uc003diu.2_Intron	NM_178504	NP_848599			dynein heavy chain domain 2 isoform 1						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2																		---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69104708	69104708	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69104708delA	uc003dno.2	-						UBA3_uc003dnq.2_Intron|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959			ubiquitin-activating enzyme 3 isoform 1						protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)														---	---	---	---
ARL6IP5	10550	broad.mit.edu	37	3	69153415	69153415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69153415delA	uc003dnr.2	+							NM_006407	NP_006398			ADP-ribosylation-like factor 6 interacting						L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89478476	89478476	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89478476delT	uc003dqy.2	+						EPHA3_uc010hon.1_Intron	NM_005233	NP_005224			ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
Unknown	0	broad.mit.edu	37	3	98031434	98031434	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98031434delA								OR5H2 (28758 upstream) : OR5K4 (41264 downstream)																																			---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100042414delT	uc003dtt.2	+						TBC1D23_uc003dts.2_Intron|TBC1D23_uc003dtu.2_Intron	NM_018309	NP_060779			TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311692	101311692	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311692delT	uc003dva.2	+	5					PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090			PEST proteolytic signal containing nuclear						cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108279028	108279028	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108279028delT	uc003dxb.3	-							NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108347822	108347822	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108347822delA	uc003dxd.2	+						DZIP3_uc003dxf.1_Intron|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Intron	NM_014648	NP_055463			DAZ interacting protein 3, zinc finger						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108813667	108813667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108813667delA	uc003dxl.2	-						MORC1_uc011bhn.1_Intron	NM_014429	NP_055244			MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8																		---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111794489	111794490	+	Intron	INS	-	T	T	rs142698146	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111794489_111794490insT	uc010hqb.2	+						TMPRSS7_uc011bhr.1_Intron	NM_001042575	NP_001036040			transmembrane protease, serine 7						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2																		---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113524426	113524426	+	Intron	DEL	T	-	-	rs150760445	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113524426delT	uc003eao.2	+						ATP6V1A_uc011bik.1_Intron	NM_001690	NP_001681			ATPase, H+ transporting, lysosomal V1 subunit A						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3																		---	---	---	---
CD86	942	broad.mit.edu	37	3	121825017	121825017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121825017delT	uc003eet.2	+						CD86_uc011bjo.1_Intron|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Intron	NM_175862	NP_787058			CD86 antigen isoform 1						interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)													---	---	---	---
KPNA1	3836	broad.mit.edu	37	3	122215548	122215548	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122215548delC	uc003efd.1	-						KPNA1_uc011bjr.1_5'Flank|KPNA1_uc010hrh.2_Intron|KPNA1_uc003efe.2_Intron	NM_002264	NP_002255			karyopherin alpha 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418145	122418145	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418145delT	uc003efq.3	+						PARP14_uc010hrk.2_Intron|PARP14_uc003efr.2_5'Flank|PARP14_uc003efs.1_5'Flank	NM_017554	NP_060024			poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124458850	124458850	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124458850delT	uc003ehl.3	+						UMPS_uc003ehm.3_Intron|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Intron|UMPS_uc011bkc.1_Intron|UMPS_uc003ehn.3_Intron|UMPS_uc011bkd.1_Intron	NM_000373	NP_000364			uridine monophosphate synthase						'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)														---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125179712	125179712	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125179712delA	uc003eib.2	-						SNX4_uc011bkf.1_Intron	NM_003794	NP_003785			sorting nexin 4						cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195789	129195790	+	Intron	DEL	TT	-	-	rs10575192		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195789_129195790delTT	uc003emm.2	+						IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715			WD repeat domain 10 isoform 2						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
UBA5	79876	broad.mit.edu	37	3	132390860	132390860	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132390860delT	uc003epa.3	+						NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Intron|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Intron	NM_024818	NP_079094			ubiquitin-activating enzyme 5 isoform 1						protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1																		---	---	---	---
TF	7018	broad.mit.edu	37	3	133483648	133483648	+	Intron	DEL	A	-	-	rs58479550	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133483648delA	uc003epu.1	+						TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc003epv.1_Intron	NM_001063	NP_001054			transferrin precursor						cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136240317	136240317	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136240317delT	uc003era.1	-						STAG1_uc003erb.1_Intron|STAG1_uc003erc.1_Intron|STAG1_uc010hua.1_Intron|STAG1_uc003erd.2_Intron|STAG1_uc003ere.2_Intron	NM_005862	NP_005853			stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137981526	137981526	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137981526delA	uc003esa.1	+						TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Intron|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Intron|ARMC8_uc003esb.1_Intron|ARMC8_uc003esc.1_Intron|ARMC8_uc003esf.1_5'Flank	NM_015396	NP_056211			armadillo repeat containing 8 isoform 2								binding				0																		---	---	---	---
FAM194A	131831	broad.mit.edu	37	3	150420024	150420024	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150420024delC	uc003eyg.2	-						FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---
C3orf79	152118	broad.mit.edu	37	3	153203781	153203781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153203781delT	uc003ezt.2	+							NM_001101337	NP_001094807			chromosome 3 open reading frame 79												0																		---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153905449	153905449	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153905449delT	uc011bog.1	+						SGEF_uc011boh.1_Intron	NM_015595	NP_056410			Src homology 3 domain-containing guanine						regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160958626	160958627	+	Intron	DEL	TT	-	-	rs141601797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160958626_160958627delTT	uc003feb.1	+						NMD3_uc003fec.2_Intron|NMD3_uc003fed.1_Intron|NMD3_uc010hwh.2_Intron	NM_015938	NP_057022			NMD3 homolog						protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
SI	6476	broad.mit.edu	37	3	164755956	164755956	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164755956delT	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843675	170843675	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170843675delA	uc003fhh.2	-						TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843			TRAF2 and NCK interacting kinase isoform 1						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171404614	171404614	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171404614delA	uc003fhs.2	-						PLD1_uc003fht.2_Intron	NM_002662	NP_002653			phospholipase D1 isoform a						cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175189407	175189408	+	Intron	DEL	TT	-	-	rs67071359		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:175189407_175189408delTT	uc003fit.2	+						NAALADL2_uc003fiu.1_Intron|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_Intron	NM_207015	NP_996898			N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)														---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183665257delA	uc003fmg.2	-	23	3434	c.3269delT	c.(3268-3270)TTGfs	p.L1090fs	ABCC5_uc011bqt.1_Frame_Shift_Del_p.L618fs|ABCC5_uc010hxl.2_Frame_Shift_Del_p.L1047fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1090	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184742112	184742112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184742112delT	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
TBCCD1	55171	broad.mit.edu	37	3	186268857	186268857	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186268857delT	uc003fqg.2	-						TBCCD1_uc011bry.1_Intron|TBCCD1_uc003fqh.2_Intron	NM_018138	NP_060608			TBCC domain containing 1						cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)														---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186967887	186967887	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186967887delT	uc003frh.1	-						MASP1_uc003fri.2_Intron|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Intron|MASP1_uc011bse.1_Intron	NM_001879	NP_001870			mannan-binding lectin serine protease 1 isoform						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190165415	190165415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190165415delA	uc003fsj.2	-							NM_207316	NP_997199			transmembrane protein 207 precursor							integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193182984	193182984	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193182984delT	uc003ftd.2	-						ATP13A4_uc003fte.1_Intron|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_Intron|ATP13A4_uc003ftf.3_Intron	NM_032279	NP_115655			ATPase type 13A4						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
SDHAP2	727956	broad.mit.edu	37	3	195392917	195392917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195392917delT	uc003fuw.2	+						SDHAP2_uc003fut.3_Intron|SDHAP2_uc003fuu.3_Intron|SDHAP2_uc011btb.1_Intron|SDHAP2_uc011btc.1_Intron|SDHAP2_uc003fuv.2_Intron					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0																		---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196088571	196088571	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196088571delT	uc003fwm.3	-						UBXN7_uc003fwn.3_Intron|UBXN7_uc010iae.2_Intron	NM_015562	NP_056377			UBX domain containing 7								protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196793772	196793772	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196793772delA	uc003fxo.3	-						DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Intron|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Intron	NM_001098424	NP_001091894			discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196876426	196876426	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196876426delA	uc003fxo.3	-						DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Intron|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Intron|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_Intron|DLG1_uc010iam.1_Intron|DLG1_uc010ian.2_Intron	NM_001098424	NP_001091894			discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
LOC220729	220729	broad.mit.edu	37	3	197346771	197346771	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197346771delA	uc011bug.1	-						LOC220729_uc003fxw.2_Intron|LOC220729_uc003fxy.2_Intron|LOC220729_uc010iao.1_Intron					Homo sapiens cDNA FLJ60865 complete cds, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial precursor (EC 1.3.5.1).												0																		---	---	---	---
FYTTD1	84248	broad.mit.edu	37	3	197508926	197508926	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197508926delA	uc003fyi.2	+	9					FYTTD1_uc011bui.1_3'UTR|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_3'UTR	NM_032288	NP_115664			forty-two-three domain containing 1 isoform 1						mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)														---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197671050	197671050	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197671050delA	uc003fyo.2	-						IQCG_uc003fyp.2_Intron|IQCG_uc003fyq.3_Intron	NM_001134435	NP_001127907			IQ motif containing G												0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1834801	1834801	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1834801delT	uc003gdv.2	-							NM_012318	NP_036450			leucine zipper-EF-hand containing transmembrane						cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)															---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2940408	2940408	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2940408delT	uc003ggj.1	-						C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_3'UTR	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2958218	2958218	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2958218delA	uc003ggj.1	-						C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_5'Flank|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron|NOP14_uc010icq.1_Intron	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
HTT	3064	broad.mit.edu	37	4	3129358	3129358	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3129358delT	uc011bvq.1	+							NM_002111	NP_002102			huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
TMEM128	85013	broad.mit.edu	37	4	4241997	4241997	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4241997delA	uc003ghr.1	-						TMEM128_uc003ghq.1_Intron|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Intron|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316			transmembrane protein 128							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)														---	---	---	---
PROM1	8842	broad.mit.edu	37	4	16025883	16025883	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16025883delA	uc003goo.2	-						PROM1_uc003gor.2_Intron|PROM1_uc003gos.2_Intron|PROM1_uc003got.2_Intron|PROM1_uc003gou.2_Intron|PROM1_uc003gop.2_Intron|PROM1_uc003goq.3_Intron|PROM1_uc010iec.1_Intron	NM_006017	NP_006008			prominin 1 isoform 1						camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16587637	16587637	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16587637delA	uc003goz.2	-						LDB2_uc003gpa.2_Intron|LDB2_uc003gpb.2_Intron|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Intron|LDB2_uc003goy.2_Intron|LDB2_uc011bxi.1_Intron	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20706068	20706069	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20706068_20706069delTT	uc010iek.2	+						PACRGL_uc003gpu.2_Intron|PACRGL_uc010iei.1_Intron|PACRGL_uc003gpz.2_Intron|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpv.2_Intron|PACRGL_uc003gpw.2_Intron|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485			PARK2 co-regulated-like isoform 1								binding				0																		---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749784	22749787	+	Intron	DEL	TATA	-	-	rs33941035		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22749784_22749787delTATA	uc003gqp.3	+						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Intron	NM_020973	NP_066024			cytosolic beta-glucosidase isoform a						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26431945	26431945	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26431945delA	uc003grx.1	+						RBPJ_uc003gry.1_Intron|RBPJ_uc003grz.1_Intron|RBPJ_uc011bxt.1_3'UTR|RBPJ_uc003gsa.1_Intron|RBPJ_uc003gsb.1_Intron|RBPJ_uc003gsc.1_Intron|uc003gsd.2_5'Flank	NM_005349	NP_005340			recombining binding protein suppressor of						DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)																---	---	---	---
RELL1	768211	broad.mit.edu	37	4	37636845	37636845	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37636845delA	uc003gsz.2	-						RELL1_uc010ifc.2_Intron	NM_001085399	NP_001078868			receptor expressed in lymphoid tissues like 1							cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38777276	38777276	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38777276delA	uc003gti.2	-						TLR10_uc003gtj.2_Intron|TLR10_uc003gtk.2_Intron	NM_030956	NP_112218			toll-like receptor 10 precursor						inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
KLB	152831	broad.mit.edu	37	4	39449786	39449786	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39449786delA	uc003gua.2	+						KLB_uc011byj.1_Intron	NM_175737	NP_783864			klotho beta						carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39974662	39974662	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39974662delT	uc003guv.3	-						PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Intron	NM_001100399	NP_001093869			PDS5, regulator of cohesion maintenance, homolog						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695103	47695103	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695103delA	uc003gxm.2	-						CORIN_uc011bzf.1_Intron|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_Intron	NM_006587	NP_006578			corin						peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48533084	48533087	+	Intron	DEL	TCAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48533084_48533087delTCAA	uc003gyh.1	-						FRYL_uc003gyg.1_Intron|FRYL_uc003gyi.1_Intron|FRYL_uc003gyj.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48625211	48625213	+	Intron	DEL	AAC	-	-	rs776579	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48625211_48625213delAAC	uc003gyh.1	-						FRYL_uc003gyk.2_Intron|FRYL_uc003gyl.1_Intron|FRYL_uc003gym.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52926826	52926826	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52926826delT	uc003gzl.2	+						SPATA18_uc010igl.1_Intron|SPATA18_uc011bzq.1_Intron|SPATA18_uc003gzk.1_Intron	NM_145263	NP_660306			spermatogenesis associated 18 homolog						mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56884135	56884135	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56884135delT	uc003hbi.2	+						CEP135_uc003hbj.2_Intron	NM_025009	NP_079285			centrosome protein 4						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
C4orf14	84273	broad.mit.edu	37	4	57839652	57839653	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57839652_57839653delTT	uc003hck.2	-							NM_032313	NP_115689			hypothetical protein LOC84273								GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69198815	69198815	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69198815delA	uc003hdx.2	-						YTHDC1_uc003hdy.2_Intron	NM_001031732	NP_001026902			splicing factor YT521-B isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	69417428	69417428	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69417428delT								YTHDC1 (201604 upstream) : UGT2B15 (94888 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	4	70267902	70267902	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70267902delA								UGT2B28 (107135 upstream) : UGT2B4 (77982 downstream)																																			---	---	---	---
C4orf40	401137	broad.mit.edu	37	4	71027283	71027283	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71027283delT	uc003hfa.3	+						C4orf40_uc003hfb.3_Intron	NM_214711	NP_999876			hypothetical protein LOC401137 precursor							extracellular region					0																		---	---	---	---
DCK	1633	broad.mit.edu	37	4	71892332	71892333	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71892332_71892333delTT	uc003hfx.2	+						DCK_uc011cbb.1_Intron	NM_000788	NP_000779			deoxycytidine kinase						purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)													---	---	---	---
ALB	213	broad.mit.edu	37	4	74270303	74270305	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74270303_74270305delAAA	uc003hgs.3	+						ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Intron|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_5'Flank	NM_000477	NP_000468			albumin preproprotein						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
USO1	8615	broad.mit.edu	37	4	76726517	76726517	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76726517delT	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78081697	78081697	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78081697delA	uc003hkq.3	+						CCNG2_uc003hkn.3_Intron|CCNG2_uc011ccc.1_Intron|CCNG2_uc003hkp.3_Intron	NM_004354	NP_004345			cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79369152	79369153	+	Intron	INS	-	AT	AT			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79369152_79369153insAT	uc003hlb.2	+							NM_025074	NP_079350			Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82349077	82349077	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82349077delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82367029	82367029	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82367029delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	87792172	87792172	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87792172delA								SLC10A6 (21756 upstream) : C4orf36 (5187 downstream)																																			---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091212	96091212	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96091212delA	uc003htp.1	-						uc003hto.2_5'Flank	NM_003728	NP_003719			unc5C precursor						apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99960367	99960367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99960367delT	uc003huf.3	+						METAP1_uc003hug.2_Intron	NM_015143	NP_055958			methionyl aminopeptidase 1						N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
SLC39A8	64116	broad.mit.edu	37	4	103188866	103188866	+	Intron	DEL	T	-	-	rs71705287		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103188866delT	uc003hwb.1	-						SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Intron|SLC39A8_uc003hwc.2_Intron	NM_022154	NP_071437			solute carrier family 39 (zinc transporter),							integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103826510	103826511	+	Intron	DEL	CA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103826510_103826511delCA	uc003hww.2	-						NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912			Na+/H+ exchanger domain containing 1 isoform 1							integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107037554	107037554	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107037554delA	uc010ilv.2	-						TBCK_uc003hyb.2_Intron|TBCK_uc003hye.2_Intron|TBCK_uc003hyc.2_Intron|TBCK_uc003hyd.2_Intron|TBCK_uc003hyf.2_Intron	NM_001163435	NP_001156907			TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108608337	108608337	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108608337delA	uc003hyk.2	-						PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434			3'-phosphoadenosine 5'-phosphosulfate synthase						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
AP1AR	55435	broad.mit.edu	37	4	113186056	113186056	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113186056delT	uc003iaj.3	+						AP1AR_uc010imm.1_Intron|AP1AR_uc003iak.3_Intron	NM_018569	NP_061039			adaptor-related protein complex 1 associated						protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0																		---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239769	119239769	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119239769delT	uc003ica.1	-							NM_003619	NP_003610			neurotrypsin precursor							membrane	scavenger receptor activity			skin(1)	1																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122068097	122068097	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122068097delA	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123095926	123095926	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123095926delT	uc003ieh.2	+							NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123145659	123145659	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123145659delC	uc003ieh.2	+	21	2665	c.2620delC	c.(2620-2622)CCCfs	p.P874fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.P627fs|KIAA1109_uc010ins.1_Frame_Shift_Del_p.P217fs|KIAA1109_uc003iej.1_Frame_Shift_Del_p.P259fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	874					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128863072	128863072	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128863072delA	uc003ifp.2	-						MFSD8_uc011cgu.1_Intron|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991			major facilitator superfamily domain containing						cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864050	129864050	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129864050delA	uc003igp.2	-						SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_Intron|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244			sodium channel associated protein 1							centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140270590	140270591	+	Intron	DEL	TT	-	-	rs112955393		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140270590_140270591delTT	uc003ihu.1	+							NM_057175	NP_476516			NMDA receptor regulated 1						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
ELMOD2	255520	broad.mit.edu	37	4	141448706	141448707	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141448706_141448707delAA	uc003iik.2	+							NM_153702	NP_714913			ELMO/CED-12 domain containing 2						phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141545663	141545667	+	Intron	DEL	AAACA	-	-	rs3060698		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141545663_141545667delAAACA	uc010ioj.2	-							NM_015130	NP_055945			TBC1 domain family, member 9 (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)																---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144471021	144471021	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144471021delT	uc003ijg.2	+							NM_003601	NP_003592			SWI/SNF-related matrix-associated						CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155505988	155505988	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155505988delA	uc003iod.1	-							NM_000508	NP_000499			fibrinogen, alpha polypeptide isoform alpha-E						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159603683	159603684	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159603683_159603684delTT	uc003iqb.2	+						ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Intron|ETFDH_uc010iqs.2_Intron	NM_004453	NP_004444			electron-transferring-flavoprotein dehydrogenase						fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160271577	160271577	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160271577delT	uc003iqg.3	+							NM_014247	NP_055062			Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169158399	169158400	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169158399_169158400delCT	uc003irp.2	-							NM_017631	NP_060101			DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169589217	169589217	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169589217delT	uc011cjx.1	+						PALLD_uc003iru.2_Intron|PALLD_uc003irv.2_Intron	NM_016081	NP_057165			palladin isoform 2						cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)										Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
AGA	175	broad.mit.edu	37	4	178361260	178361260	+	Intron	DEL	T	-	-	rs75220849		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:178361260delT	uc003iuu.1	-						AGA_uc003iuv.1_5'Flank|AGA_uc003iuw.2_5'Flank	NM_000027	NP_000018			aspartylglucosaminidase precursor						asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	185536441	185536442	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185536441_185536442insG								IRF2 (140715 upstream) : CASP3 (12410 downstream)																																			---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186180379	186180379	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186180379delT	uc003ixh.2	+							NM_031953	NP_114159			sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186267675	186267675	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186267675delT	uc003ixh.2	+						SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Intron	NM_031953	NP_114159			sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
SDHA	6389	broad.mit.edu	37	5	240458	240458	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:240458delT	uc003jao.3	+						SDHA_uc011clv.1_Intron|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Intron|SDHA_uc003jar.3_Intron	NM_004168	NP_004159			succinate dehydrogenase complex, subunit A,						nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1321591	1321591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1321591delT	uc003jch.2	-						CLPTM1L_uc003jcg.2_Intron	NM_030782	NP_110409			CLPTM1-like						apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)														---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1409126	1409126	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1409126delT	uc003jck.2	-							NM_001044	NP_001035			solute carrier family 6 (neurotransmitter						cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)													---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1501536	1501536	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1501536delC	uc003jcm.2	-							NM_024830	NP_079106			lysophosphatidylcholine acyltransferase 1						phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)														---	---	---	---
SDHAP3	728609	broad.mit.edu	37	5	1593156	1593156	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1593156delA	uc010itg.1	-						SDHAP3_uc011cme.1_Intron					Homo sapiens cDNA clone IMAGE:40127561.												0																		---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7885676	7885677	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7885676_7885677delTT	uc003jed.2	+						MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Intron|MTRR_uc003jef.3_Intron|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_Intron	NM_024010	NP_076915			methionine synthase reductase isoform 2						methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)													---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14489275	14489275	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14489275delA	uc003jff.2	+						TRIO_uc003jfg.2_Intron	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16681288	16681289	+	Intron	INS	-	AT	AT	rs139510797	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16681288_16681289insAT	uc003jft.3	-						MYO10_uc011cnb.1_Intron|MYO10_uc011cnc.1_Intron|MYO10_uc011cnd.1_Intron|MYO10_uc011cne.1_Intron|MYO10_uc010itx.2_Intron	NM_012334	NP_036466			myosin X						axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19612813	19612813	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19612813delT	uc003jgc.2	-						CDH18_uc003jgd.2_Intron|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34954259	34954259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34954259delT	uc003jjc.2	+						DNAJC21_uc003jjb.2_Intron	NM_001012339	NP_001012339			DnaJ homology subfamily A member 5 isoform 2						protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37351261	37351261	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37351261delA	uc003jku.1	-						NUP155_uc003jkt.1_Intron|NUP155_uc010iuz.1_Intron	NM_153485	NP_705618			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353454	45353454	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45353454delA	uc003jok.2	-							NM_021072	NP_066550			hyperpolarization activated cyclic							integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
SFRS12IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64023941delT	uc003jtk.2	-	4	423	c.271delA	c.(271-273)AGGfs	p.R91fs		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	91	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)														---	---	---	---
SGTB	54557	broad.mit.edu	37	5	64976250	64976250	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64976250delA	uc003jud.2	-							NM_019072	NP_061945			small glutamine-rich tetratricopeptide repeat								binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)														---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65279617	65279617	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65279617delC	uc003juk.1	+						ERBB2IP_uc003juh.1_Intron|ERBB2IP_uc003jui.1_Intron|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Intron|ERBB2IP_uc011cqy.1_Intron|ERBB2IP_uc011cqz.1_Intron	NM_018695	NP_061165			ERBB2 interacting protein isoform 2						basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)														---	---	---	---
NAIP	4671	broad.mit.edu	37	5	70307058	70307058	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70307058delA	uc003kar.1	-						NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Intron|NAIP_uc003kas.1_Intron	NM_004536	NP_004527			NLR family, apoptosis inhibitory protein isoform						anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70835352	70835352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70835352delT	uc003kbp.1	+						BDP1_uc003kbo.2_Intron|BDP1_uc003kbq.1_Intron|BDP1_uc003kbr.1_Intron	NM_018429	NP_060899			transcription factor-like nuclear regulator						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74652094	74652095	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74652094_74652095insA	uc003kdp.2	+						HMGCR_uc011cst.1_Intron|HMGCR_uc003kdq.2_Intron|HMGCR_uc010izo.2_5'Flank|HMGCR_uc010izp.2_5'Flank	NM_000859	NP_000850			3-hydroxy-3-methylglutaryl-Coenzyme A reductase						cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76745819	76745819	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76745819delA	uc003kff.1	-						WDR41_uc011csy.1_Intron|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Intron|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738			WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)														---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78351761	78351761	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78351761delA	uc003kfs.2	-						DMGDH_uc011cte.1_5'Flank|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523			dimethylglycine dehydrogenase precursor						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78378959	78378959	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78378959delA	uc003kft.2	+						BHMT2_uc011cth.1_Intron	NM_017614	NP_060084			betaine-homocysteine methyltransferase 2						methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
SERINC5	256987	broad.mit.edu	37	5	79473234	79473234	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79473234delA	uc003kgj.2	-						SERINC5_uc003kgk.2_Intron|SERINC5_uc003kgl.2_Intron|SERINC5_uc003kgm.2_Intron|SERINC5_uc011ctj.1_Intron	NM_178276	NP_840060			developmentally regulated protein TPO1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)														---	---	---	---
CCNH	902	broad.mit.edu	37	5	86704953	86704953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86704953delA	uc003kjb.2	-						CCNH_uc003kiy.1_5'Flank|CCNH_uc003kiz.1_Intron|CCNH_uc003kja.2_Intron	NM_001239	NP_001230			cyclin H						G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)									Direct_reversal_of_damage|NER					---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89933862	89933863	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89933862_89933863delAA	uc003kju.2	+						GPR98_uc003kjt.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90086591	90086591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90086591delT	uc003kju.2	+						GPR98_uc003kjt.2_Intron|GPR98_uc003kjw.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90671548	90671548	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90671548delT	uc003kjz.2	-							NM_020801	NP_065852			arrestin domain containing 3						signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)														---	---	---	---
FAM172A	83989	broad.mit.edu	37	5	93019526	93019527	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:93019526_93019527delTT	uc010jbd.2	-						FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_032042	NP_114431			hypothetical protein LOC83989 isoform 1							endoplasmic reticulum|extracellular region					0																		---	---	---	---
RFESD	317671	broad.mit.edu	37	5	94991635	94991635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94991635delA	uc003klf.2	+						RFESD_uc003klg.2_Intron|RFESD_uc011cun.1_Intron|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498			Rieske (Fe-S) domain containing isoform 2								2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	96392026	96392026	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96392026delA								LNPEP (26911 upstream) : LIX1 (35549 downstream)																																			---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101755728delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101793966	101793966	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101793966delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112328522	112328522	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112328522delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112343574	112343574	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112343574delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118310505	118310505	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118310505delA	uc003ksa.2	-							NM_173666	NP_775937			DTW domain containing 2												0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122163031	122163031	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122163031delT	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122748350	122748350	+	Intron	DEL	T	-	-	rs66479829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122748350delT	uc003ktk.2	-						CEP120_uc011cwq.1_Intron|CEP120_uc010jcz.1_Intron	NM_153223	NP_694955			coiled-coil domain containing 100							centrosome				ovary(1)	1																		---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125819334	125819334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125819334delA	uc003ktu.2	+						GRAMD3_uc011cwt.1_Intron|GRAMD3_uc011cwv.1_Intron|GRAMD3_uc011cww.1_Intron|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_Intron|GRAMD3_uc011cwz.1_Intron|GRAMD3_uc011cwu.1_Intron	NM_023927	NP_076416			GRAM domain containing 3 isoform 2											central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)														---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125885822	125885822	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125885822delT	uc003ktx.2	-						ALDH7A1_uc003ktv.2_Intron|ALDH7A1_uc003kty.2_Intron|ALDH7A1_uc011cxa.1_Intron	NM_001182	NP_001173			aldehyde dehydrogenase 7 family, member A1						cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	5	126506009	126506009	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126506009delT								FLJ44606 (96837 upstream) : MEGF10 (120447 downstream)																																			---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128932244	128932244	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128932244delT	uc003kvb.1	+						ADAMTS19_uc010jdh.1_5'Flank	NM_133638	NP_598377			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130764956	130764956	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:130764956delA	uc003kvn.1	-						RAPGEF6_uc003kvp.1_Intron|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Intron|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Intron	NM_016340	NP_057424			PDZ domain-containing guanine nucleotide						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)														---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132069870	132069870	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132069870delT	uc003kxo.2	-						KIF3A_uc003kxn.2_Intron|KIF3A_uc011cxf.1_Intron|KIF3A_uc003kxp.2_Intron	NM_007054	NP_008985			kinesin family member 3A						blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132159772	132159773	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132159772_132159773insC	uc003kxx.2	-	7	2385_2386	c.1580_1581insG	c.(1579-1581)GGCfs	p.G527fs	SHROOM1_uc003kxy.1_Frame_Shift_Ins_p.G527fs	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	527					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
UBE2B	7320	broad.mit.edu	37	5	133726150	133726150	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133726150delA	uc003kzh.2	+	6						NM_003337	NP_003328			ubiquitin-conjugating enzyme E2B						canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137763437	137763437	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137763437delT	uc003lcy.1	+						KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688			jumonji domain containing 1B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138764375delA	uc003len.2	-						DNAJC18_uc010jff.2_Intron	NM_152686	NP_689899			DnaJ (Hsp40) homolog, subfamily C, member 18						protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147117721	147117721	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147117721delT	uc003loq.1	-						JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Intron	NM_014790	NP_055605			janus kinase and microtubule interacting protein							Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
CSNK1A1	1452	broad.mit.edu	37	5	148884875	148884875	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148884875delT	uc003lqx.1	-						CSNK1A1_uc011dcb.1_Intron|CSNK1A1_uc011dcc.1_Intron|CSNK1A1_uc003lqv.1_Intron|CSNK1A1_uc003lqw.1_Intron|CSNK1A1_uc003lqy.1_Intron|CSNK1A1_uc010jha.1_Intron	NM_001892	NP_001883			casein kinase 1, alpha 1 isoform 2						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---
CD74	972	broad.mit.edu	37	5	149792481	149792481	+	5'Flank	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149792481delG	uc003lsc.2	-						CD74_uc003lse.2_5'Flank|CD74_uc003lsd.2_5'Flank|CD74_uc003lsf.1_5'Flank	NM_001025159	NP_001020330			CD74 antigen isoform a						antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)					T	ROS1	NSCLC								---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150102363	150102364	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150102363_150102364delTT	uc003lsv.2	-						DCTN4_uc003lsu.2_Intron|DCTN4_uc010jhi.2_Intron	NM_016221	NP_057305			dynactin 4 (p62) isoform b							centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154135745	154135745	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157053272	157053272	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:157053272delT	uc003lxb.1	-	5					SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_3'UTR	NM_178424	NP_848511			SRY (sex determining region Y)-box 30 isoform a						regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161524945	161524946	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161524945_161524946delAA	uc003lyz.3	+						GABRG2_uc010jjc.2_Intron|GABRG2_uc003lyy.3_Intron|GABRG2_uc011dej.1_Intron	NM_000816	NP_000807			gamma-aminobutyric acid A receptor, gamma 2						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161578664	161578664	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161578664delT	uc003lyz.3	+						GABRG2_uc010jjc.2_Intron|GABRG2_uc003lyy.3_Intron|GABRG2_uc011dej.1_Intron	NM_000816	NP_000807			gamma-aminobutyric acid A receptor, gamma 2						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170668309	170668312	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170668309_170668312delTTTT	uc003mba.2	+						RANBP17_uc003mbb.2_Intron|RANBP17_uc003mbd.2_Intron|RANBP17_uc010jjs.2_Intron	NM_022897	NP_075048			RAN binding protein 17						mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179689017	179689017	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179689017delA	uc003mls.3	-						MAPK9_uc003mlt.3_Intron|MAPK9_uc010jlc.2_Intron|MAPK9_uc003mlv.3_Intron|MAPK9_uc011dgx.1_Intron	NM_002752	NP_002743			mitogen-activated protein kinase 9 isoform JNK2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	180165983	180165983	+	IGR	DEL	G	-	-	rs2054696	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180165983delG								FLT4 (89359 upstream) : OR2Y1 (140 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	6	5067160	5067161	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5067160_5067161insC	uc003mwn.1	+											Homo sapiens cDNA FLJ37615 fis, clone BRCOC2011996.																														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7566746	7566746	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7566746delA	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7578647	7578647	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7578647delT	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17898424	17898424	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17898424delA	uc003ncg.3	-						KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Intron|KIF13A_uc003nci.3_Intron	NM_022113	NP_071396			kinesin family member 13A isoform a						cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---
TPMT	7172	broad.mit.edu	37	6	18134020	18134021	+	Intron	DEL	AC	-	-	rs68138647		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18134020_18134021delAC	uc003ncm.2	-						TPMT_uc010jpm.1_Frame_Shift_Del_p.G198fs	NM_000367	NP_000358			thiopurine S-methyltransferase						xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)													---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24567112	24567112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24567112delT	uc011djo.1	-						KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Intron|KIAA0319_uc011djq.1_Intron|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Intron	NM_014809	NP_055624			KIAA0319 precursor						negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29580837	29580837	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29580837delT	uc003nmt.3	-						GABBR1_uc003nmp.3_Intron|GABBR1_uc003nms.3_Intron|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Intron|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461			gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
HLA-E	3133	broad.mit.edu	37	6	30459582	30459582	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30459582delT	uc003nqg.2	+						HLA-E_uc011dmg.1_Intron|HLA-E_uc011dmh.1_Intron	NM_005516	NP_005507			major histocompatibility complex, class I, E						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576436	30576436	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30576436delT	uc003nqn.1	-						PPP1R10_uc010jsc.1_Intron	NM_002714	NP_002705			protein phosphatase 1, regulatory subunit 10						protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30621048	30621048	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30621048delT	uc003nqz.2	-	20	3309	c.3097delA	c.(3097-3099)ATAfs	p.I1033fs	DHX16_uc003nqy.2_Frame_Shift_Del_p.I552fs|DHX16_uc011dmo.1_Frame_Shift_Del_p.I973fs	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1033					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
ZNF76	7629	broad.mit.edu	37	6	35262831	35262831	+	Intron	DEL	A	-	-	rs113114842		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35262831delA	uc003oki.1	+						ZNF76_uc003okj.1_Intron|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank	NM_003427	NP_003418			zinc finger protein 76 (expressed in testis)						regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
TBC1D22B	55633	broad.mit.edu	37	6	37254735	37254735	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:37254735delA	uc003onn.2	+						TBC1D22B_uc010jwt.2_Intron	NM_017772	NP_060242			TBC1 domain family, member 22B							intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)															---	---	---	---
FTSJD2	23070	broad.mit.edu	37	6	37420622	37420622	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:37420622delT	uc003ons.2	+						FTSJD2_uc010jwu.2_Intron	NM_015050	NP_055865			FtsJ methyltransferase domain containing 2						mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38750770	38750770	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38750770delA	uc003ooe.1	+							NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813268	38813268	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38813268delA	uc003ooe.1	+							NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
NFYA	4800	broad.mit.edu	37	6	41057863	41057863	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41057863delT	uc003opo.2	+						NFYA_uc003opp.2_Intron|NFYA_uc003opq.2_Intron	NM_002505	NP_002496			nuclear transcription factor Y, alpha isoform 1						transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42932348	42932348	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42932348delT	uc003otf.2	-						uc003ote.1_5'Flank|PEX6_uc010jya.2_Intron	NM_000287	NP_000278			peroxisomal biogenesis factor 6						protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)															---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371468	44371468	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371468delT	uc003oxl.2	+							NM_001253	NP_001244			CDC5-like						cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46518263	46518263	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46518263delA	uc003oyf.1	-						CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677			cytochrome P450, family 39, subfamily A,						bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1																		---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46836932	46836932	+	Intron	DEL	A	-	-	rs75249218		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46836932delA	uc003oyo.3	-						GPR116_uc011dwj.1_5'UTR|GPR116_uc011dwk.1_Intron|GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Intron|GPR116_uc010jzi.1_Intron	NM_001098518	NP_001091988			G-protein coupled receptor 116 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
CD2AP	23607	broad.mit.edu	37	6	47567211	47567211	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47567211delA	uc003oyw.2	+							NM_012120	NP_036252			CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)															---	---	---	---
MUT	4594	broad.mit.edu	37	6	49408202	49408202	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49408202delT	uc003ozg.3	-							NM_000255	NP_000246			methylmalonyl Coenzyme A mutase precursor						fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49604650	49604650	+	5'Flank	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49604650delA	uc003ozk.3	-						RHAG_uc010jzl.2_5'Flank|RHAG_uc010jzm.2_5'Flank	NM_000324	NP_000315			Rh-associated glycoprotein						carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51887448	51887449	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51887448_51887449insT	uc003pah.1	-						PKHD1_uc003pai.2_Intron	NM_138694	NP_619639			fibrocystin isoform 1						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52288681	52288681	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52288681delT	uc003pap.3	+						EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Intron	NM_018100	NP_060570			EF-hand domain (C-terminal) containing 1							axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53761270	53761270	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53761270delT	uc003pcd.1	+							NM_018214	NP_060684			leucine rich repeat containing 1							cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)														---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55381522	55381523	+	Intron	INS	-	A	A	rs141179453	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55381522_55381523insA	uc003pcn.2	-						HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909			3-hydroxymethyl-3-methylglutaryl-Coenzyme A								hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---
DST	667	broad.mit.edu	37	6	56376047	56376049	+	In_Frame_Del	DEL	TCT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56376047_56376049delTCT	uc003pdf.2	-	67	12397_12399	c.12369_12371delAGA	c.(12367-12372)GAAGAT>GAT	p.E4123del	DST_uc003pcz.3_In_Frame_Del_p.E3945del|DST_uc011dxj.1_In_Frame_Del_p.E3974del|DST_uc011dxk.1_In_Frame_Del_p.E3985del|DST_uc003pcy.3_In_Frame_Del_p.E3619del	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6031	Spectrin 11.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64289336	64289336	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64289336delT	uc003pek.2	+						PTP4A1_uc003pel.2_Intron	NM_003463	NP_003454			protein tyrosine phosphatase type IVA, member 1						cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70648035	70648036	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70648035_70648036insA	uc003pfc.1	+						COL19A1_uc010kam.1_Intron	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71562148	71562148	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71562148delT	uc003pfr.2	+						SMAP1_uc003pfs.2_Intron|SMAP1_uc010kao.2_Intron|SMAP1_uc010kap.2_Intron	NM_001044305	NP_001037770			stromal membrane-associated GTPase-activating						regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75798722	75798722	+	Intron	DEL	C	-	-	rs672648		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75798722delC	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76028609	76028609	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76028609delA	uc003pia.2	-						FILIP1_uc003phy.1_Intron|FILIP1_uc003phz.2_Intron|FILIP1_uc010kbe.2_Intron|FILIP1_uc003pib.1_Intron	NM_015687	NP_056502			filamin A interacting protein 1											skin(3)|ovary(1)	4																		---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83841885	83841885	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83841885delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83861593	83861593	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83861593delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83869790	83869790	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83869790delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85454056	85454056	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85454056delA	uc003pkl.1	-						TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977			T-box 18						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87955207	87955207	+	Intron	DEL	T	-	-	rs72438234		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87955207delT	uc003plm.3	+							NM_015021	NP_055836			zinc finger protein 292						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---
RNGTT	8732	broad.mit.edu	37	6	89563641	89563642	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89563641_89563642delTT	uc003pmr.2	-						RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron	NM_003800	NP_003791			RNA guanylyltransferase and 5'-phosphatase						interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)														---	---	---	---
LYRM2	57226	broad.mit.edu	37	6	90347730	90347730	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90347730delT	uc003pnm.2	-						LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|LYRM2_uc010kcf.1_Intron|LYRM2_uc010kcg.2_Intron|LYRM2_uc003pnl.3_Intron	NM_020466	NP_065199			LYR motif containing 2												0		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90529029	90529030	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90529029_90529030delAA	uc003pnn.1	-						MDN1_uc003pnp.1_Intron	NM_014611	NP_055426			MDN1, midasin homolog						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CCNC	892	broad.mit.edu	37	6	100006215	100006215	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100006215delT	uc003pqe.2	-						uc003pqc.2_Intron|CCNC_uc003pqd.2_Intron|CCNC_uc010kcr.2_Intron|CCNC_uc010kcs.2_Intron|CCNC_uc011eah.1_Intron|CCNC_uc003pqf.2_3'UTR	NM_005190	NP_005181			cyclin C isoform a						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101215315	101215315	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101215315delA	uc003pqk.2	-						ASCC3_uc011eai.1_Intron|ASCC3_uc003pql.2_Intron	NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102133965	102133965	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102133965delA	uc003pqp.3	+						GRIK2_uc003pqn.2_Intron|GRIK2_uc003pqo.3_Intron|GRIK2_uc010kcw.2_Intron	NM_021956	NP_068775			glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)													---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105244435	105244436	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105244435_105244436insA	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
ATG5	9474	broad.mit.edu	37	6	106764250	106764250	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106764250delA	uc003prf.2	-						ATG5_uc010kdb.2_Intron|ATG5_uc003prg.2_Intron|ATG5_uc010kdc.2_Intron	NM_004849	NP_004840			APG5 autophagy 5-like						apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108197684	108197684	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108197684delT	uc003psc.3	-						SEC63_uc003psb.3_Intron	NM_007214	NP_009145			SEC63-like protein						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108502387	108502388	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108502387_108502388insT	uc003psg.2	+							NM_003269	NP_003260			nuclear receptor subfamily 2, group E, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)														---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108508234	108508234	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108508234delT	uc003psg.2	+							NM_003269	NP_003260			nuclear receptor subfamily 2, group E, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	113545198	113545199	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:113545198_113545199insT								RFPL4B (872700 upstream) : MARCKS (633328 downstream)																																			---	---	---	---
ZUFSP	221302	broad.mit.edu	37	6	116982068	116982069	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116982068_116982069delTT	uc003pxf.1	-						ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499			zinc finger with UFM1-specific peptidase domain							intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)														---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237595	117237595	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237595delT	uc003pxm.2	+							NM_173560	NP_775831			regulatory factor X, 6						glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117862023	117862023	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117862023delT	uc003pxs.2	+						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Intron|DCBLD1_uc003pxt.1_Intron	NM_173674	NP_775945			discoidin, CUB and LCCL domain containing 1						cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)														---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118598580	118598580	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118598580delG	uc003pxx.3	+						SLC35F1_uc003pxy.1_Intron	NM_001029858	NP_001025029			solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119301222	119301222	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119301222delA	uc003pyj.2	-						FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron	NM_024581	NP_078857			hypothetical protein LOC79632 isoform 1											ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	121730064	121730064	+	IGR	DEL	T	-	-	rs74363630		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121730064delT								C6orf170 (74420 upstream) : GJA1 (26681 downstream)																																			---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332047	123332047	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332047delT	uc003pzi.1	+							NM_001010852	NP_001010852			retinaldehyde binding protein 1-like 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123637480	123637480	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123637480delT	uc003pzj.1	-						TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123702474	123702474	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123702474delA	uc003pzj.1	-						TRDN_uc003pzk.1_Intron|TRDN_uc003pzl.1_Intron|TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127804264	127804264	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127804264delA	uc003qbd.2	-							NM_001012279	NP_001012279			hypothetical protein LOC387104 precursor							integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129723354	129723359	+	Intron	DEL	AAAAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129723354_129723359delAAAAAA	uc003qbn.2	+						LAMA2_uc003qbo.2_Intron	NM_000426	NP_000417			laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LTV1	84946	broad.mit.edu	37	6	144181842	144181842	+	Intron	DEL	A	-	-	rs138724144	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144181842delA	uc003qjs.2	+						LTV1_uc003qju.1_Intron|C6orf94_uc010khj.2_Intron	NM_032860	NP_116249			LTV1 homolog											ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149813468	149813471	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149813468_149813471delTTTT	uc010kic.2	-							NM_139126				peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149856013	149856014	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149856013_149856014delAA	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151336482	151336482	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151336482delT	uc003qob.2	+						MTHFD1L_uc011een.1_Intron|MTHFD1L_uc011eeo.1_Intron|MTHFD1L_uc003qoc.2_Intron	NM_015440	NP_056255			methylenetetrahydrofolate dehydrogenase (NADP+						folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599580	152599580	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599580delT	uc010kiw.2	-						SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152793562	152793563	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152793562_152793563insA	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
Unknown	0	broad.mit.edu	37	6	154037518	154037518	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154037518delT								RGS17 (585129 upstream) : OPRM1 (294118 downstream)																																			---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761308	155761308	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155761308delA	uc003qqm.2	-							NM_015718	NP_056533			NADPH oxidase 3								electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)														---	---	---	---
QKI	9444	broad.mit.edu	37	6	163991599	163991599	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163991599delT	uc003qui.2	+						QKI_uc003quj.2_Intron	NM_006775	NP_006766			quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---
FGFR1OP	11116	broad.mit.edu	37	6	167447338	167447338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167447338delT	uc003qvj.2	+						CCR6_uc003qvl.2_Intron|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.2_Intron	NM_007045	NP_008976			FGFR1 oncogene partner isoform a						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(1)	1		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)				T	FGFR1	MPD|NHL								---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170181412	170181412	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170181412delT	uc003qxg.1	+						C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Intron	NM_018341	NP_060811			hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4905390	4905390	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4905390delT	uc003snj.1	-						RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron	NM_018059	NP_060529			Rap GTPase interactor						cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)														---	---	---	---
RSPH10B2	728194	broad.mit.edu	37	7	6006678	6006679	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6006678_6006679insAG	uc003sph.1	-	3	340_341	c.69_70insCT	c.(67-72)TCTGATfs	p.S23fs	RSPH10B2_uc010ktd.1_Frame_Shift_Ins_p.S23fs	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	23_24										ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6781234	6781234	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6781234delT	uc003squ.2	+						PMS2CL_uc003sqv.1_Intron					Homo sapiens PMS2CL mRNA for PMS2-C terminal -like, complete cds.												0																		---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476158	7476158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476158delA	uc003src.1	-						COL28A1_uc011jxe.1_Intron|COL28A1_uc003srd.2_Intron|COL28A1_uc003sre.1_Intron	NM_001037763	NP_001032852			collagen, type XXVIII precursor						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21743993	21743993	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21743993delT	uc003svc.2	+							NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27142248	27142248	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27142248delT	uc003syh.2	-	1						NM_006735	NP_006726			homeobox A2							nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	29760221	29760221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29760221delT	uc003tai.2	+											Homo sapiens DPY-19-like 2 pseudogene 3 (DPY19L2P3) pseudogene mRNA, complete sequence.																														---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30694783	30694783	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30694783delG	uc003tbn.2	-						CRHR2_uc010kvw.1_Intron|CRHR2_uc010kvx.1_Intron|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Intron|CRHR2_uc003tbp.2_Intron	NM_001883	NP_001874			corticotropin releasing hormone receptor 2						G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32678981	32678981	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32678981delA	uc011kai.1	+						uc003tcw.2_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32867251	32867252	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32867251_32867252delTT	uc011kai.1	+						uc003tda.1_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39247285	39247285	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39247285delA	uc003thb.1	+						POU6F2_uc010kxo.2_Intron	NM_007252	NP_009183			POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45003923	45003924	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45003923_45003924insC	uc003tmh.2	-						MYO1G_uc003tmf.2_Intron|MYO1G_uc003tmg.2_Intron|MYO1G_uc010kym.2_Intron	NM_033054	NP_149043			myosin IG							myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48045524	48045524	+	Intron	DEL	T	-	-	rs80067951		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48045524delT	uc003tof.2	-						SUN3_uc010kyq.2_Intron|SUN3_uc003tog.2_Intron|SUN3_uc011kcf.1_Intron	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314550	48314550	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48314550delA	uc003toq.2	+	17	5312	c.5287delA	c.(5287-5289)AAAfs	p.K1763fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.K1266fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1763					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ZNF735	730291	broad.mit.edu	37	7	63674370	63674370	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63674370delT	uc011kdn.1	+							NM_001159524	NP_001152996			zinc finger protein 735						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	66347893	66347893	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66347893delA								LOC729156 (38080 upstream) : C7orf42 (38310 downstream)																																			---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73601779	73601779	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73601779delT	uc003uad.1	+						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron	NM_022170	NP_071496			eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77807188	77807188	+	Intron	DEL	A	-	-	rs113984102		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77807188delA	uc003ugx.2	-						MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron	NM_012301	NP_036433			membrane associated guanylate kinase, WW and PDZ							cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83591153	83591153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83591153delA	uc003uhz.2	-							NM_006080	NP_006071			semaphorin 3A precursor						axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)																	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87778219	87778220	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87778219_87778220insT	uc003ujn.2	+						ADAM22_uc003ujk.1_Intron|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Intron	NM_021723	NP_068369			ADAM metallopeptidase domain 22 isoform 1						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847728	88847728	+	Intron	DEL	T	-	-	rs78003398		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847728delT	uc011khi.1	+							NM_181646	NP_857597			zinc finger protein 804B							intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
C7orf63	79846	broad.mit.edu	37	7	89912076	89912077	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89912076_89912077insA	uc010lep.2	+						C7orf63_uc003ukf.2_Intron|C7orf63_uc003ukg.2_Intron|C7orf63_uc011khj.1_Intron|C7orf63_uc011khk.1_Intron	NM_001039706	NP_001034795			hypothetical protein LOC79846 isoform 1								binding			ovary(1)	1																		---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752766	91752766	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91752766delT	uc003ulm.3	-						CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron	NM_000786	NP_000777			cytochrome P450, family 51, subfamily A,						cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)													---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92000724	92000724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92000724delT	uc003ulw.2	+						ANKIB1_uc010lew.1_5'Flank	NM_019004	NP_061877			ankyrin repeat and IBR domain containing 1								protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92403884	92403884	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92403884delT	uc011khw.1	-						CDK6_uc010lez.2_Intron	NM_001259	NP_001250			cyclin-dependent kinase 6						cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92883251	92883251	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92883251delA	uc003umo.2	+						CCDC132_uc003umq.2_Intron|CCDC132_uc003ump.2_Intron|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Intron	NM_017667	NP_060137			coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
TMEM130	222865	broad.mit.edu	37	7	98446426	98446426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98446426delT	uc003upo.2	-						TMEM130_uc011kiq.1_Intron|TMEM130_uc011kir.1_Intron|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922			transmembrane protein 130 isoform a							Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98546413	98546413	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98546413delT	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98563215	98563215	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98563215delG	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ARPC1B	10095	broad.mit.edu	37	7	98985523	98985523	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98985523delA	uc003upz.2	+						ARPC1A_uc011kit.1_Intron|ARPC1B_uc003uqa.2_Intron|ARPC1B_uc003uqb.2_Intron|ARPC1B_uc003uqc.2_Intron|ARPC1B_uc003uqd.2_5'Flank	NM_005720	NP_005711			actin related protein 2/3 complex subunit 1B						cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99943553delT	uc003uuk.2	+	4					PILRB_uc003uul.2_5'UTR	NM_013440	NP_038468			paired immunoglobulin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
SPDYE2	441273	broad.mit.edu	37	7	102197784	102197784	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102197784delT	uc011kkx.1	+						UPK3BL_uc003uzy.2_Intron|POLR2J3_uc003uzw.2_Intron|POLR2J3_uc011kkw.1_Intron|SPDYE2_uc003vaa.1_Intron	NM_001031618	NP_001026789			speedy homolog E2												0																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107414307	107414307	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107414307delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
ING3	54556	broad.mit.edu	37	7	120606863	120606863	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120606863delT	uc003vjn.2	+						ING3_uc003vjo.2_Intron|ING3_uc003vjp.2_Intron|ING3_uc011kns.1_Intron	NM_019071	NP_061944			inhibitor of growth family, member 3 isoform 1						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)																	---	---	---	---
FAM3C	10447	broad.mit.edu	37	7	121022812	121022812	+	Intron	DEL	A	-	-	rs77488516		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121022812delA	uc003vjx.2	-						FAM3C_uc010lkm.2_Intron	NM_014888	NP_055703			family with sequence similarity 3, member C						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)																	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121597015	121597015	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121597015delA	uc003vjy.2	+						PTPRZ1_uc003vjz.2_Intron	NM_002851	NP_002842			protein tyrosine phosphatase, receptor-type,						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122316893	122316893	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122316893delT	uc010lkp.2	-						CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424			Ca2+-dependent activator protein for secretion 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
WASL	8976	broad.mit.edu	37	7	123335069	123335069	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123335069delA	uc003vkz.2	-							NM_003941	NP_003932			Wiskott-Aldrich syndrome gene-like protein						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0																		---	---	---	---
AHCYL2	23382	broad.mit.edu	37	7	129040119	129040119	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129040119delT	uc011kov.1	+						AHCYL2_uc003vot.2_Intron|AHCYL2_uc003vov.2_Intron|AHCYL2_uc011kow.1_Intron|AHCYL2_uc011kox.1_Intron	NM_015328	NP_056143			S-adenosylhomocysteine hydrolase-like 2 isoform						one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	131578776	131578776	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131578776delC								PODXL (337400 upstream) : PLXNA4 (229316 downstream)																																			---	---	---	---
AKR1B15	441282	broad.mit.edu	37	7	134252866	134252866	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134252866delA	uc011kpr.1	+						AKR1B15_uc003vrt.2_Intron|AKR1B15_uc011kps.1_Intron	NM_001080538	NP_001074007			aldo-keto reductase family 1, member B15								oxidoreductase activity			ovary(1)	1																		---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137341101	137341101	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137341101delT	uc003vtt.2	-						DGKI_uc003vtu.2_Intron	NM_004717	NP_004708			diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140476994	140476994	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140476994delT	uc003vwc.3	-							NM_004333	NP_004324			B-Raf						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	7	148751396	148751396	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148751396delA								PDIA4 (25614 upstream) : ZNF786 (15337 downstream)																																			---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150923194	150923195	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150923194_150923195delTG	uc003wjp.2	-						ABCF2_uc003wjo.1_Intron	NM_007189	NP_009120			ATP-binding cassette, sub-family F, member 2							ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154172013	154172013	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154172013delT	uc003wlk.2	+						DPP6_uc003wli.2_Intron|DPP6_uc003wlj.2_Intron|DPP6_uc010lqh.1_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron	NM_130797	NP_570629			dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155473256	155473256	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155473256delT	uc010lqk.1	+						RBM33_uc003wme.2_Intron	NM_053043	NP_444271			RNA binding motif protein 33								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155556609	155556609	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155556609delG	uc010lqk.1	+	15	3451	c.3083delG	c.(3082-3084)AGGfs	p.R1028fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.R838fs|RBM33_uc003wmg.2_5'UTR	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1028							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
LOC349196	349196	broad.mit.edu	37	8	7196263	7196264	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:7196263_7196264delAC	uc010lrk.1	-						uc011kwo.1_Intron					Homo sapiens cDNA FLJ37516 fis, clone BRCAN2000832.												0																		---	---	---	---
FLJ10661	286042	broad.mit.edu	37	8	8098084	8098084	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8098084delA	uc003wsf.3	+							NR_024361				Homo sapiens cDNA FLJ60033 complete cds, highly similar to Protein FAM86A.												0																		---	---	---	---
MSRA	4482	broad.mit.edu	37	8	10102588	10102588	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10102588delT	uc003wsx.2	+						MSRA_uc011kwx.1_Intron|MSRA_uc011kwy.1_Intron|MSRA_uc003wsz.2_Intron|MSRA_uc003wsy.2_Intron	NM_012331	NP_036463			methionine sulfoxide reductase A isoform a						methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)													---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12598317	12598317	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12598317delT	uc003wwd.1	-						LONRF1_uc010lsp.1_Intron	NM_152271	NP_689484			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14167359	14167359	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14167359delT	uc003wwq.2	-						SGCZ_uc010lss.2_Intron	NM_139167	NP_631906			sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)														---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14167370	14167370	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14167370delT	uc003wwq.2	-						SGCZ_uc010lss.2_Intron	NM_139167	NP_631906			sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16974262	16974262	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16974262delA	uc003wxd.2	+							NM_181723	NP_859074			EF-hand domain family, member A2							integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
ZDHHC2	51201	broad.mit.edu	37	8	17067785	17067785	+	Intron	DEL	T	-	-	rs4922272		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17067785delT	uc003wxe.2	+							NM_016353	NP_057437			zinc finger, DHHC-type containing 2							integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17826953	17826953	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17826953delT	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_5'Flank|PCM1_uc011kyj.1_5'Flank|PCM1_uc003wyk.3_5'Flank	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25287255	25287255	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25287255delT	uc003xeo.2	-	12					PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104			potassium channel tetramerisation domain							voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26149253	26149253	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26149253delC	uc003xeu.2	+	1					PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_5'Flank	NM_002717	NP_002708			alpha isoform of regulatory subunit B55, protein						protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27348831	27348831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27348831delG	uc003xfu.2	+						EPHX2_uc010lut.1_Intron|EPHX2_uc010luu.2_Intron|EPHX2_uc010luv.2_Intron|EPHX2_uc003xfv.2_Intron|EPHX2_uc010luw.2_Intron	NM_001979	NP_001970			epoxide hydrolase 2, cytoplasmic						aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30336817	30336817	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30336817delT	uc003xic.1	+						RBPMS_uc003xid.1_Intron|RBPMS_uc003xie.1_Intron|RBPMS_uc003xif.1_Intron|RBPMS_uc011lba.1_Intron|RBPMS_uc003xib.2_Intron|RBPMS_uc010lvh.1_Intron	NM_006867	NP_006858			RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32612095	32612095	+	Intron	DEL	A	-	-	rs76017751		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32612095delA	uc003xiv.2	+						NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc011lbg.1_Intron|NRG1_uc011lbh.1_Intron|NRG1_uc003xja.2_Intron	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38875022	38875022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38875022delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	41926441	41926441	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41926441delA								MYST3 (16936 upstream) : AP3M2 (84023 downstream)																																			---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42552905	42552905	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42552905delG	uc003xpi.1	+							NM_000749	NP_000740			cholinergic receptor, nicotinic, beta						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42761289	42761290	+	Intron	DEL	CC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42761289_42761290delCC	uc003xpr.2	+						HOOK3_uc010lxq.1_Intron	NM_032410	NP_115786			golgi-associated microtubule-binding protein						cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)					T	RET	papillary thyroid								---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48866910delT	uc003xqi.2	-	5	553	c.496delA	c.(496-498)ATAfs	p.I166fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.I166fs|PRKDC_uc011ldh.1_Frame_Shift_Del_p.I166fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
Unknown	0	broad.mit.edu	37	8	49297743	49297743	+	IGR	DEL	A	-	-	rs140564135		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49297743delA								UBE2V2 (323291 upstream) : EFCAB1 (325608 downstream)																																			---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51351027	51351028	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51351027_51351028insA	uc010lxy.1	+						SNTG1_uc003xqs.1_Intron|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_Intron	NM_018967	NP_061840			syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53093073	53093073	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53093073delT	uc003xqz.2	-						ST18_uc011ldq.1_Intron|ST18_uc011ldr.1_Intron|ST18_uc011lds.1_Intron|ST18_uc003xra.2_Intron|ST18_uc003xrb.2_Intron|ST18_uc010lyb.2_Intron	NM_014682	NP_055497			suppression of tumorigenicity 18							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59477817	59477817	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59477817delT	uc003xtn.2	+						SDCBP_uc003xto.2_Intron|SDCBP_uc003xtr.2_Intron|SDCBP_uc003xtp.2_Intron|SDCBP_uc003xtq.2_Intron|SDCBP_uc003xts.2_Intron|SDCBP_uc011led.1_Intron	NM_005625	NP_005616			syntenin isoform 1						actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59520477	59520477	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59520477delA	uc003xtt.2	-						NSMAF_uc011lee.1_Intron|NSMAF_uc003xtu.2_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61714076	61714076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61714076delT	uc003xue.2	+							NM_017780	NP_060250			chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64081982	64081982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:64081982delT	uc003xuy.2	+						YTHDF3_uc010lys.2_Intron|YTHDF3_uc003xuz.2_Intron|YTHDF3_uc003xva.2_Intron|YTHDF3_uc011len.1_Intron	NM_152758	NP_689971			YTH domain family, member 3												0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66636440	66636440	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66636440delA	uc003xvq.2	-						PDE7A_uc003xvr.2_Intron|PDE7A_uc003xvp.2_Intron	NM_002604	NP_002595			phosphodiesterase 7A isoform b							cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66657849	66657850	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66657849_66657850insT	uc003xvq.2	-						PDE7A_uc003xvr.2_Intron|PDE7A_uc003xvp.2_Intron	NM_002604	NP_002595			phosphodiesterase 7A isoform b							cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
Unknown	0	broad.mit.edu	37	8	68319249	68319249	+	IGR	DEL	A	-	-	rs75255829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68319249delA								ARFGEF1 (63337 upstream) : CPA6 (15157 downstream)																																			---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71037164	71037164	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71037164delG	uc003xyn.1	-						NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531			nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646015	71646015	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71646015delT	uc003xyq.2	+						XKR9_uc010lze.2_Intron|XKR9_uc010lzd.2_Intron	NM_001011720	NP_001011720			XK, Kell blood group complex subunit-related							integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)															---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72969255	72969255	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72969255delA	uc003xza.2	-							NM_007332	NP_015628			ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75937752	75937753	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75937752_75937753delAT	uc003yan.2	+						CRISPLD1_uc011lfk.1_Intron|CRISPLD1_uc011lfl.1_Intron	NM_031461	NP_113649			cysteine-rich secretory protein LCCL domain							extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87683336	87683336	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87683336delA	uc003ydx.2	-						CNGB3_uc010maj.2_5'Flank	NM_019098	NP_061971			cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3																		---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90798702	90798702	+	Intron	DEL	A	-	-	rs112047259		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90798702delA	uc003yee.2	+						RIPK2_uc003yef.2_Intron	NM_003821	NP_003812			receptor-interacting serine-threonine kinase 2						activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)															---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90936586	90936587	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90936586_90936587delTT	uc003yeg.2	+						OSGIN2_uc003yeh.2_Intron	NM_004337	NP_004328			oxidative stress induced growth inhibitor family						germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)															---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91056917	91056917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91056917delT	uc003yek.1	+						DECR1_uc011lgc.1_Intron|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350			2,4-dienoyl CoA reductase 1 precursor						fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92097184	92097184	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92097184delA	uc003yeu.3	+	7					OTUD6B_uc011lgh.1_3'UTR	NM_016023	NP_057107			OTU domain containing 6B											ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)															---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94816108	94816109	+	Intron	DEL	TT	-	-	rs71831534		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94816108_94816109delTT	uc011lgk.1	+						TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Intron|TMEM67_uc011lgl.1_Intron	NM_153704	NP_714915			meckelin isoform 1						cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	94969529	94969529	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94969529delT								PDP1 (31235 upstream) : CDH17 (169865 downstream)																																			---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95541687	95541687	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95541687delA	uc003ygo.1	-						KIAA1429_uc003ygp.2_Intron|KIAA1429_uc010maz.1_5'Flank	NM_015496	NP_056311			hypothetical protein LOC25962 isoform 1						mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95686611	95686611	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95686611delA	uc003ygq.3	+	12	1711	c.1528delA	c.(1528-1530)AAAfs	p.K510fs	ESRP1_uc003ygr.3_Frame_Shift_Del_p.K510fs|ESRP1_uc003ygs.3_Frame_Shift_Del_p.K510fs|ESRP1_uc003ygt.3_Frame_Shift_Del_p.K510fs|ESRP1_uc003ygu.3_Frame_Shift_Del_p.K510fs|ESRP1_uc003ygv.2_Frame_Shift_Del_p.K350fs|ESRP1_uc003ygw.2_Frame_Shift_Del_p.K350fs	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	510	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4																		---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95768113	95768113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95768113delA	uc003ygx.2	+							NM_181787	NP_861452			dpy-19-like 4							integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95905205	95905205	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95905205delA	uc003yhc.2	-						C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Intron	NM_057749	NP_477097			cyclin E2						cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)																	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99148630	99148630	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99148630delA	uc003yij.3	+						POP1_uc011lgv.1_Intron|POP1_uc003yik.2_Intron	NM_001145860	NP_001139332			processing of precursor 1						tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99264978	99264978	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99264978delT	uc003yil.1	-						NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Intron	NM_024759	NP_079035			NIPA-like domain containing 2							integral to membrane					0																		---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99962748	99962748	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99962748delA	uc003yir.2	+						OSR2_uc010mbn.2_Intron|OSR2_uc003yiq.2_Intron|OSR2_uc011lgx.1_Intron	NM_001142462	NP_001135934			odd-skipped related 2 isoform a						bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)															---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102859464	102859464	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102859464delT	uc003ykf.2	-						NCALD_uc003ykg.2_Intron|NCALD_uc003ykh.2_Intron|NCALD_uc003yki.2_Intron|NCALD_uc003ykj.2_Intron|NCALD_uc003ykk.2_Intron|NCALD_uc003ykl.2_Intron	NM_001040628	NP_001035718			neurocalcin delta						synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103289349delT	uc003ykr.1	-	45	6393	c.6360delA	c.(6358-6360)AAAfs	p.K2120fs	UBR5_uc003yks.1_Frame_Shift_Del_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103358988	103358988	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103358988delA	uc003ykr.1	-						UBR5_uc003yks.1_Intron	NM_015902	NP_056986			ubiquitin protein ligase E3 component n-recognin						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	107228951	107228951	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:107228951delT								ZFPM2 (412186 upstream) : OXR1 (53522 downstream)																																			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113363350	113363350	+	Intron	DEL	T	-	-	rs7003308	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113363350delT	uc003ynu.2	-						CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113702411	113702412	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113702411_113702412delTT	uc003ynu.2	-						CSMD3_uc003yns.2_5'Flank|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121327882	121327882	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121327882delA	uc003yox.2	+						COL14A1_uc003yoz.2_Intron	NM_021110	NP_066933			collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122640781	122640781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122640781delT	uc003yph.2	-							NM_005328	NP_005319			hyaluronan synthase 2							integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126059687	126059688	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126059687_126059688delTT	uc003yrt.2	-						KIAA0196_uc011lir.1_Intron|KIAA0196_uc003yru.1_Intron	NM_014846	NP_055661			strumpellin						cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)															---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130874724	130874724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130874724delT	uc003yss.2	-						FAM49B_uc003yst.2_Intron|FAM49B_uc003ysu.2_Intron|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Intron|FAM49B_uc003ysx.2_Intron|FAM49B_uc003ysy.1_Intron	NM_016623	NP_057707			hypothetical protein LOC51571												0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141810338	141810338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141810338delT	uc003yvu.2	-						PTK2_uc011ljq.1_Intron|PTK2_uc003yvp.2_Intron|PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145003563	145003563	+	Intron	DEL	G	-	-	rs140068101		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145003563delG	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300456	5300456	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5300456delA	uc003zja.1	-						RLN2_uc003ziz.1_Intron	NM_134441	NP_604390			relaxin 2 isoform 1 preproprotein						female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7128278	7128278	+	Intron	DEL	A	-	-	rs73403349	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7128278delA	uc003zkh.2	+						KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Intron|KDM4C_uc011lmk.1_Intron|KDM4C_uc011lml.1_Intron	NM_015061	NP_055876			jumonji domain containing 2C isoform 1						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8340946	8340946	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8340946delA	uc003zkk.2	-						PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16775804	16775804	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16775804delT	uc003zml.2	-						BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Intron|BNC2_uc003zmr.1_Intron|BNC2_uc003zmp.1_Intron|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Intron|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107			basonuclin 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19370000	19370000	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19370000delT	uc003znq.2	+						DENND4C_uc011lnc.1_Intron|DENND4C_uc011lnd.1_Intron|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_Intron	NM_017925	NP_060395			DENN/MADD domain containing 4C							integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
IFT74	80173	broad.mit.edu	37	9	27060506	27060506	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27060506delT	uc010mja.2	+						IFT74_uc010mjb.2_Intron|IFT74_uc003zqg.3_Intron	NM_001099223	NP_001092693			coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32405448	32405448	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32405448delA	uc003zqw.3	+						ACO1_uc010mjh.1_Intron|ACO1_uc003zqx.3_Intron|ACO1_uc003zqy.3_Intron	NM_002197	NP_002188			aconitase 1						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32493953	32493953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32493953delA	uc003zra.2	-						DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Intron	NM_014314	NP_055129			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide						detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)														---	---	---	---
DNAJA1	3301	broad.mit.edu	37	9	33034392	33034393	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33034392_33034393insT	uc003zsd.1	+						DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Intron	NM_001539	NP_001530			DnaJ (Hsp40) homolog, subfamily A, member 1						protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)														---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33270523	33270524	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33270523_33270524delTT	uc003zsl.3	+						SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Intron|CHMP5_uc011lnv.1_Intron|CHMP5_uc003zsn.2_5'Flank	NM_016410	NP_057494			chromatin modifying protein 5						cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35721531	35721531	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35721531delT	uc003zxt.2	-							NM_006289	NP_006280			talin 1						axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353341	36353342	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36353341_36353342delAA	uc003zzh.2	-						RNF38_uc003zzi.2_Intron|RNF38_uc003zzj.2_Intron|RNF38_uc003zzk.2_Intron|RNF38_uc003zzl.2_Intron|RNF38_uc003zzm.2_Intron	NM_022781	NP_073618			ring finger protein 38 isoform 1								zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
Unknown	0	broad.mit.edu	37	9	69721737	69721737	+	IGR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69721737delG								LOC100133920 (56788 upstream) : FOXD4L5 (453972 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	69876385	69876386	+	IGR	INS	-	TCT	TCT			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69876385_69876386insTCT								LOC100133920 (211436 upstream) : FOXD4L5 (299323 downstream)																																			---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72895960	72895962	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72895960_72895962delTTT	uc004ahr.2	+							NM_015110	NP_055925			SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79842991	79842992	+	Intron	DEL	TA	-	-	rs34249411		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79842991_79842992delTA	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79890720delC	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79930064	79930064	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79930064delT	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron|VPS13A_uc010mpo.1_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86523674	86523675	+	Intron	DEL	TT	-	-	rs34030009		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86523674_86523675delTT	uc004ana.2	-						KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Intron	NM_017576	NP_060046			kinesin family member 27						cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5																		---	---	---	---
C9orf153	389766	broad.mit.edu	37	9	88842954	88842954	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88842954delA	uc004aoo.2	-						GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Intron	NM_001010907	NP_001010907			hypothetical protein LOC389766												0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94173204	94173204	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94173204delA	uc004arh.2	-							NM_005384	NP_005375			nuclear factor, interleukin 3 regulated						circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95003101	95003101	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95003101delA	uc004art.1	-						IARS_uc004ars.1_Intron|IARS_uc004aru.3_Intron|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	NM_013417	NP_038203			isoleucine tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
WNK2	65268	broad.mit.edu	37	9	96061682	96061683	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96061682_96061683delAA	uc004ati.1	+						WNK2_uc011lud.1_Intron|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_Intron	NM_006648	NP_006639			WNK lysine deficient protein kinase 2						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112018218	112018218	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112018218delA	uc004bdz.1	-						EPB41L4B_uc004bea.2_Intron	NM_019114	NP_061987			erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114289507	114289507	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114289507delT	uc004bff.2	+						ZNF483_uc011lwq.1_Intron|ZNF483_uc004bfg.2_Intron|ZNF483_uc010mud.1_Intron	NM_133464	NP_597721			zinc finger protein 483 isoform a						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1																		---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119065092	119065093	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119065092_119065093insA	uc004bjn.2	+	10	3391_3392	c.3010_3011insA	c.(3010-3012)CAAfs	p.Q1004fs	PAPPA_uc011lxp.1_Frame_Shift_Ins_p.Q699fs|PAPPA_uc011lxq.1_Frame_Shift_Ins_p.Q379fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1004					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	127957481	127957481	+	IGR	DEL	A	-	-	rs79479616		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127957481delA								PPP6C (5263 upstream) : RABEPK (5336 downstream)																																			---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129596298	129596299	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129596298_129596299delAA	uc004bql.2	+	3					ZBTB43_uc010mxf.2_3'UTR	NM_014007	NP_054726			zinc finger and BTB domain containing 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131742685	131742685	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131742685delT	uc004bws.1	+							NM_015354	NP_056169			nucleoporin 188kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132848815	132848815	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132848815delT	uc004bze.2	+						GPR107_uc004bzb.2_Intron|GPR107_uc004bzc.3_Intron|GPR107_uc011mbx.1_Intron|GPR107_uc004bzd.2_Intron	NM_001136557	NP_001130029			G protein-coupled receptor 107 isoform 1							integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)																---	---	---	---
LCN1	3933	broad.mit.edu	37	9	138413839	138413839	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138413839delG	uc004cfz.1	+						LCN1_uc004cga.1_Intron	NM_002297	NP_002288			lipocalin 1 precursor						proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)														---	---	---	---
NACC2	138151	broad.mit.edu	37	9	138907999	138907999	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138907999delT	uc004cgw.2	-						NACC2_uc010nbh.2_Intron	NM_144653	NP_653254			BTB (POZ) domain containing 14A						negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0																		---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	390739	390739	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:390739delC	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7423987	7423988	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7423987_7423988insA	uc009xio.1	-						SFMBT2_uc001ijn.1_Intron|SFMBT2_uc010qay.1_Intron|SFMBT2_uc001ijo.1_Intron	NM_001029880	NP_001025051			Scm-like with four mbt domains 2						regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	13199671	13199672	+	IGR	INS	-	G	G	rs113702003		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13199671_13199672insG								OPTN (19395 upstream) : MCM10 (3909 downstream)																																			---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15197377	15197377	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15197377delT	uc001inz.1	-						NMT2_uc001ioa.1_Intron|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Intron|uc010qca.1_5'Flank	NM_004808	NP_004799			N-myristoyltransferase 2						N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27311456	27311456	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27311456delT	uc001ith.2	-						ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Intron	NM_014915	NP_055730			ankyrin repeat domain 26							centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27458857	27458857	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27458857delT	uc001itm.2	+						MASTL_uc001itl.2_Intron|MASTL_uc009xkw.1_Intron|MASTL_uc009xkx.1_Intron	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30611196	30611196	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30611196delA	uc001iva.3	-						MTPAP_uc001ivb.3_Intron	NM_018109	NP_060579			PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37486587	37486587	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37486587delT	uc001iza.1	+							NM_052997	NP_443723			ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
HSD17B7P2	158160	broad.mit.edu	37	10	38666843	38666843	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38666843delT	uc001izq.2	+							NR_003086				Homo sapiens 17-beta-hydroxysteroid dehydrogenase type VII isoform mRNA, complete cds.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	43189775	43189776	+	5'Flank	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43189775_43189776insA	uc001jah.1	-											Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439.																														---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44104661	44104661	+	Intron	DEL	T	-	-	rs78524172		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44104661delT	uc010qfc.1	+						ZNF485_uc010qfd.1_Intron	NM_145312	NP_660355			zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CXCL12	6387	broad.mit.edu	37	10	44868832	44868832	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44868832delC	uc001jbf.2	-							NM_000609	NP_000600			chemokine (C-X-C motif) ligand 12 (stromal						blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity				0					Dexamethasone(DB01234)													---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49634259	49634259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49634259delT	uc009xnz.2	+						MAPK8_uc001jgl.2_Intron|MAPK8_uc001jgm.2_Intron|MAPK8_uc001jgo.2_Intron|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Intron|MAPK8_uc010qgk.1_Intron|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635			mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---
PARG	8505	broad.mit.edu	37	10	51466157	51466157	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51466157delA	uc001jih.2	-						uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|AGAP7_uc001jio.2_Intron	NM_003631	NP_003622			poly (ADP-ribose) glycohydrolase						carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)														---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	51843676	51843676	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51843676delT	uc001jjb.2	+						FAM21A_uc001jja.1_Intron|FAM21A_uc010qhi.1_Intron|FAM21A_uc010qhj.1_Intron|FAM21B_uc009xoq.2_Intron	NM_001005751	NP_001005751			hypothetical protein LOC387680						retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	52024834	52024834	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52024834delA								ASAH2 (16464 upstream) : SGMS1 (40512 downstream)																																			---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63196058	63196058	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63196058delA	uc001jlo.2	-						TMEM26_uc010qij.1_Intron|TMEM26_uc001jlq.2_Intron	NM_178505	NP_848600			transmembrane protein 26							integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64425757	64425757	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64425757delA	uc001jmd.1	+						ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524			zinc finger protein 365 isoform D											ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
Unknown	0	broad.mit.edu	37	10	65662136	65662136	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:65662136delT								REEP3 (280165 upstream) : ANXA2P3 (923149 downstream)																																			---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69668900	69668900	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69668900delT	uc001jnd.2	+						SIRT1_uc010qis.1_Intron|SIRT1_uc009xpp.2_Intron|SIRT1_uc001jne.2_Intron	NM_012238	NP_036370			sirtuin 1 isoform a						apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70136913	70136913	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70136913delT	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'UTR	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70140858	70140858	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70140858delA	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
DDX21	9188	broad.mit.edu	37	10	70728709	70728709	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70728709delT	uc001jov.1	+						DDX21_uc001jow.1_Intron	NM_004728	NP_004719			DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71917453	71917453	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71917453delA	uc010qjh.1	-						SAR1A_uc010qji.1_Intron|SAR1A_uc010qjj.1_Intron	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179965	72179966	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179965_72179966insT	uc001jrb.2	+							NM_004096	NP_004087			eukaryotic translation initiation factor 4E						negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74653469	74653470	+	5'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74653469_74653470delAA	uc001jte.1	+	1					OIT3_uc009xqs.1_RNA	NM_152635	NP_689848			oncoprotein-induced transcript 3 precursor							nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)																	---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75560464delC	uc009xrl.2	+	24	5110	c.5078delC	c.(5077-5079)TCCfs	p.S1693fs	KIAA0913_uc001jve.2_Frame_Shift_Del_p.S1698fs|KIAA0913_uc001jvf.2_Frame_Shift_Del_p.S1511fs|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Frame_Shift_Del_p.S1120fs|KIAA0913_uc010qkr.1_Frame_Shift_Del_p.S1108fs|KIAA0913_uc001jvj.2_Frame_Shift_Del_p.S1108fs|KIAA0913_uc009xrn.1_Frame_Shift_Del_p.S104fs	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1693							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75576886	75576886	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75576886delA	uc001jvv.1	-						CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911			calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75584959	75584959	+	Intron	DEL	G	-	-	rs137992560	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75584959delG	uc001jvv.1	-						CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc010qkv.1_Intron|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911			calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75893990	75893990	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75893990delA	uc001jwf.2	-						AP3M1_uc001jwg.2_Intron|AP3M1_uc001jwh.2_Intron|AP3M1_uc010qla.1_Intron	NM_207012	NP_996895			adaptor-related protein complex 3, mu 1 subunit						protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)																	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89725294	89725294	+	3'UTR	DEL	T	-	-	rs1044487		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89725294delT	uc001kfb.2	+	10						NM_000314	NP_000305			phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93579157	93579157	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93579157delT	uc001khp.2	+							NM_025235	NP_079511			tankyrase, TRF1-interacting ankyrin-related						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)																---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94774083	94774083	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94774083delT	uc001kig.2	+						EXOC6_uc010qnr.1_Intron|EXOC6_uc001kie.2_Intron|EXOC6_uc009xub.2_Intron|EXOC6_uc009xuc.2_Intron|EXOC6_uc001kih.2_Intron|EXOC6_uc001kii.2_Intron	NM_019053	NP_061926			SEC15-like 1 isoform a						protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)																---	---	---	---
Unknown	0	broad.mit.edu	37	10	94968105	94968105	+	IGR	DEL	T	-	-	rs76646378		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94968105delT								CYP26A1 (130464 upstream) : MYOF (98082 downstream)																																			---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96356607	96356607	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96356607delT	uc001kjt.2	+						HELLS_uc001kjs.2_Intron|HELLS_uc009xul.2_Intron|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Intron|HELLS_uc009xuo.2_Intron|HELLS_uc001kju.2_Intron|HELLS_uc009xup.2_Intron|HELLS_uc009xuq.2_Intron|HELLS_uc009xur.2_Intron	NM_018063	NP_060533			helicase, lymphoid-specific						cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98325349	98325349	+	Intron	DEL	T	-	-	rs146162227		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98325349delT	uc001kmm.3	-						TM9SF3_uc010qot.1_Intron	NM_020123	NP_064508			transmembrane 9 superfamily member 3 precursor							integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	98510007	98510008	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98510007_98510008delAA								PIK3AP1 (29728 upstream) : MIR607 (78418 downstream)																																			---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99221731	99221731	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99221731delA	uc001kns.3	-						MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Intron|MMS19_uc009xvt.2_Intron|MMS19_uc001knr.2_Intron|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Intron|MMS19_uc001knu.1_Intron	NM_022362	NP_071757			MMS19 nucleotide excision repair homolog						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104140752	104140752	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104140752delA	uc001kux.1	+						GBF1_uc001kuy.1_Intron|GBF1_uc001kuz.1_Intron	NM_004193	NP_004184			golgi-specific brefeldin A resistant guanine						COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116335018	116335018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116335018delT	uc010qsg.1	-						ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116734855	116734855	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116734855delT	uc001lcd.2	+						TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908			TruB pseudouridine (psi) synthase homolog 1						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)														---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	116920035	116920035	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116920035delT	uc001lcg.2	+						ATRNL1_uc001lce.2_Intron|ATRNL1_uc001lcf.2_Intron|ATRNL1_uc009xyq.2_Intron	NM_207303	NP_997186			attractin-like 1 precursor							integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118313457	118313457	+	Intron	DEL	A	-	-	rs72574709		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118313457delA	uc001lcm.2	+							NM_000936	NP_000927			pancreatic lipase precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)													---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120795796	120795796	+	Intron	DEL	A	-	-	rs75955170		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120795796delA	uc001ldu.2	-						EIF3A_uc010qsu.1_Intron	NM_003750	NP_003741			eukaryotic translation initiation factor 3,						formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123987553	123987554	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123987553_123987554insT	uc001lfv.2	+						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Intron|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron	NM_206862	NP_996744			transforming, acidic coiled-coil containing							microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
CUZD1	50624	broad.mit.edu	37	10	124596659	124596659	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124596659delT	uc001lgq.2	-						CUZD1_uc001lgp.2_Intron|CUZD1_uc009yad.2_Intron|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_Intron|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Intron|CUZD1_uc010qtz.1_Intron	NM_022034	NP_071317			CUB and zona pellucida-like domains 1 precursor						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	135455222	135455222	+	IGR	DEL	A	-	-	rs111839890		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135455222delA								FRG2B (14923 upstream) : LOC653544 (35057 downstream)																																			---	---	---	---
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624450	5624451	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5624450_5624451insT	uc001mbf.2	+						HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819			tripartite motif-containing 6 and tripartite							intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)														---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16208191	16208191	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16208191delT	uc001mme.2	-						SOX6_uc001mmd.2_Intron|SOX6_uc001mmf.2_Intron|SOX6_uc001mmg.2_Intron	NM_001145819	NP_001139291			SRY (sex determining region Y)-box 6 isoform 4						muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	20596096	20596096	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20596096delC								PRMT3 (65219 upstream) : SLC6A5 (24850 downstream)																																			---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844691	22844691	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844691delA	uc001mqp.3	-							NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33589821	33589821	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33589821delG	uc001mup.3	+						C11orf41_uc001mun.1_Intron	NM_012194	NP_036326			hypothetical protein LOC25758							integral to membrane				ovary(2)	2																		---	---	---	---
CAT	847	broad.mit.edu	37	11	34489736	34489736	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34489736delT	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
CAT	847	broad.mit.edu	37	11	34490058	34490059	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34490058_34490059delAA	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40135879	40135879	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:40135879delT	uc001mxa.1	-	2					LRRC4C_uc001mxc.1_3'UTR|LRRC4C_uc001mxd.1_3'UTR|LRRC4C_uc001mxb.1_3'UTR	NM_020929	NP_065980			netrin-G1 ligand precursor						regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)																---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46831526	46831526	+	Intron	DEL	T	-	-	rs148027133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46831526delT	uc001ndi.1	-						CKAP5_uc009ylg.1_Intron|CKAP5_uc001ndj.1_Intron	NM_001008938	NP_001008938			colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47823232	47823232	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47823232delT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47841147	47841148	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47841147_47841148delTT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	49860159	49860159	+	IGR	DEL	T	-	-	rs112842155		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49860159delT								LOC440040 (28192 upstream) : OR4C13 (113816 downstream)																																			---	---	---	---
CLP1	10978	broad.mit.edu	37	11	57428126	57428126	+	Intron	DEL	A	-	-	rs74496835		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57428126delA	uc001nkw.2	+						CLP1_uc010rjw.1_Intron|CLP1_uc009yml.2_Intron	NM_006831	NP_006822			ATP/GTP-binding protein isoform 1						mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1																		---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58379334	58379334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58379334delA	uc001nmx.3	+						ZFP91_uc001nmy.3_Intron|ZFP91-CNTF_uc010rkm.1_Intron	NM_053023	NP_444251			zinc finger protein 91						activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)																---	---	---	---
AIP	9049	broad.mit.edu	37	11	67254767	67254767	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67254767delT	uc001olv.2	+							NM_003977	NP_003968			aryl hydrocarbon receptor interacting protein						protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0														Familial_Isolated_Pituitary_Adenoma_				---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70275373	70275373	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70275373delG	uc001opv.3	+						CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Intron|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Intron	NM_005231	NP_005222			cortactin isoform a							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---
RNF121	55298	broad.mit.edu	37	11	71705621	71705621	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71705621delA	uc001ora.2	+						RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	NM_018320	NP_060790			ring finger protein 121							integral to membrane	zinc ion binding				0																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71728560	71728561	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71728560_71728561delAA	uc001orl.1	-						NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Intron|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Intron|NUMA1_uc001oro.1_Intron|NUMA1_uc009ysy.1_3'UTR|NUMA1_uc001orp.2_3'UTR|NUMA1_uc001orq.2_3'UTR	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76157923	76157923	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76157923delT	uc001oxl.2	+						C11orf30_uc001oxj.2_Intron|C11orf30_uc001oxk.2_Intron|C11orf30_uc009yuj.1_Intron|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_5'Flank|C11orf30_uc010rsc.1_5'Flank|C11orf30_uc001oxn.2_5'Flank|C11orf30_uc010rsd.1_5'Flank	NM_020193	NP_064578			EMSY protein						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6																		---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89536750	89536750	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89536750delT	uc001pdb.2	-							NM_020358	NP_065091			ring finger protein 18							intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
Unknown	0	broad.mit.edu	37	11	89769257	89769257	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89769257delA	uc010rua.1	+							NM_020358	NP_065091			ring finger protein 18																														---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92896062	92896062	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92896062delT	uc001pdn.2	-						SLC36A4_uc001pdm.2_Intron	NM_152313	NP_689526			solute carrier family 36 (proton/amino acid						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
CWC15	51503	broad.mit.edu	37	11	94696475	94696475	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94696475delA	uc001pfd.3	-	8						NM_016403	NP_057487			CWC15 homolog						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102647188	102647188	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102647188delA	uc001phg.1	-							NM_002425	NP_002416			matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103128230	103128230	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103128230delT	uc001pho.2	+						DYNC2H1_uc001phn.1_Intron|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869776	104869776	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869776delT	uc010rva.1	-						CASP5_uc010ruz.1_Intron|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338			caspase 5 isoform a precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105929470	105929472	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105929470_105929472delTTT	uc001pja.2	-						KBTBD3_uc001pjb.2_Intron|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841			BTB and kelch domain containing 3											ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
RDX	5962	broad.mit.edu	37	11	110118357	110118357	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110118357delA	uc001pku.2	-						RDX_uc009yxx.1_Intron|RDX_uc009yxy.2_Intron|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Intron	NM_002906	NP_002897			radixin						actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111946474	111946475	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111946474_111946475insT	uc001pmr.3	+						PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Intron|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953144	111953144	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953144delT	uc001pmr.3	+						C11orf57_uc001pmu.2_3'UTR|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953289	111953289	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953289delA	uc001pmr.3	+	6	1153	c.472delA	c.(472-474)AAAfs	p.K158fs	C11orf57_uc001pmw.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmt.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmv.3_Frame_Shift_Del_p.K158fs|C11orf57_uc001pms.3_Frame_Shift_Del_p.K130fs	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	158	Lys-rich.									breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
IL18	3606	broad.mit.edu	37	11	112024223	112024223	+	Intron	DEL	T	-	-	rs78854082		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112024223delT	uc001pnb.1	-						IL18_uc001pna.1_5'Flank|IL18_uc009yym.1_Intron	NM_001562	NP_001553			interleukin 18 proprotein						angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113187142	113187142	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113187142delA	uc001pnu.2	+						TTC12_uc001pnv.2_Intron|TTC12_uc001pnw.2_Intron|TTC12_uc001pnx.2_Intron	NM_017868	NP_060338			tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	113662178	113662178	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113662178delA								CLDN25 (10971 upstream) : USP28 (6420 downstream)																																			---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155670	117155670	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155670delA	uc001pqt.2	+						RNF214_uc001pqu.2_Intron|RNF214_uc010rxf.1_Intron	NM_207343	NP_997226			ring finger protein 214								zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
MPZL2	10205	broad.mit.edu	37	11	118130541	118130541	+	Intron	DEL	C	-	-	rs67304385		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118130541delC	uc001psn.2	-						MPZL2_uc001pso.2_Intron|MPZL2_uc001psp.1_3'UTR	NM_005797	NP_005788			myelin protein zero-like 2 precursor						anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118220583delA	uc001psu.2	+	3	285	c.205delA	c.(205-207)AAAfs	p.K69fs	CD3G_uc009zaa.1_Frame_Shift_Del_p.K9fs	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	69	Extracellular (Potential).|Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
CCDC84	338657	broad.mit.edu	37	11	118873663	118873663	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118873663delT	uc001pul.2	+						CCDC84_uc010ryk.1_Intron|CCDC84_uc010ryl.1_Intron|CCDC84_uc010rym.1_Intron	NM_198489	NP_940891			coiled-coil domain containing 84											ovary(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)														---	---	---	---
CBL	867	broad.mit.edu	37	11	119148323	119148323	+	Intron	DEL	T	-	-	rs79470692		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119148323delT	uc001pwe.2	+							NM_005188	NP_005179			Cas-Br-M (murine) ecotropic retroviral						epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)										CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121475640	121475640	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121475640delT	uc001pxx.2	+						SORL1_uc010rzp.1_Intron|SORL1_uc010rzq.1_Intron	NM_003105	NP_003096			sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125481184	125481184	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125481184delT	uc001qcd.2	+						STT3A_uc001qce.2_Intron|STT3A_uc010sbg.1_Intron|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926			integral membrane protein 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)														---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125496889	125496889	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125496889delA	uc009zbo.2	+						CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Intron|CHEK1_uc009zbp.2_Intron|CHEK1_uc001qcg.3_Intron|CHEK1_uc009zbq.2_Intron|CHEK1_uc001qci.1_Intron	NM_001114122	NP_001107594			checkpoint kinase 1						cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)									Other_conserved_DNA_damage_response_genes					---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4667939	4667939	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4667939delT	uc001qmw.2	+						RAD51AP1_uc001qmu.2_Intron|RAD51AP1_uc001qmv.2_Intron|RAD51AP1_uc010sep.1_Intron|RAD51AP1_uc010seq.1_Intron|RAD51AP1_uc009zeg.2_Intron	NM_001130862	NP_001124334			RAD51 associated protein 1 isoform a						double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
VWF	7450	broad.mit.edu	37	12	6167292	6167292	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6167292delA	uc001qnn.1	-						VWF_uc010set.1_Intron	NM_000552	NP_000543			von Willebrand factor preproprotein						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	6994172	6994172	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6994172delT	uc001qrn.1	+							NM_006992	NP_008923			leucine rich repeat containing 23 isoform b											ovary(1)	1																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10775373	10775373	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10775373delA	uc001qys.2	-							NM_018423	NP_060893			serine/threonine/tyrosine kinase 1							integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
GSG1	83445	broad.mit.edu	37	12	13256717	13256717	+	5'Flank	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13256717delG	uc001rbn.2	-						GSG1_uc001rbo.2_5'Flank|GSG1_uc001rbp.2_5'Flank|GSG1_uc001rbq.1_5'Flank	NM_001080555	NP_001074024			germ cell associated 1 isoform 4							endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)														---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018581	14018581	+	Intron	DEL	A	-	-	rs74837716		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14018581delA	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15656757	15656757	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15656757delT	uc001rcv.1	+						PTPRO_uc001rcw.1_Intron|PTPRO_uc001rcu.1_Intron	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
DERA	51071	broad.mit.edu	37	12	16135558	16135558	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16135558delT	uc001rde.2	+						DERA_uc010shx.1_Intron	NM_015954	NP_057038			deoxyribose-phosphate aldolase-like						deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding				0		Hepatocellular(102;0.121)																---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19406761	19406761	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19406761delA	uc001reb.2	+						PLEKHA5_uc010sie.1_Intron|PLEKHA5_uc001rea.2_Intron|PLEKHA5_uc009zin.2_Intron|PLEKHA5_uc010sif.1_Intron|PLEKHA5_uc010sig.1_Intron|PLEKHA5_uc010sih.1_Intron	NM_019012	NP_061885			pleckstrin homology domain containing, family A								1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	20096042	20096042	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20096042delA								AEBP2 (420869 upstream) : PDE3A (426155 downstream)																																			---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377827	21377827	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377827delA	uc001req.3	+							NM_006446	NP_006437			solute carrier organic anion transporter family,						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22025423	22025423	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22025423delT	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22035949	22035949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22035949delA	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
KIAA0528	9847	broad.mit.edu	37	12	22625136	22625136	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22625136delA	uc001rfq.2	-						KIAA0528_uc010sir.1_Intron|KIAA0528_uc010sis.1_Intron|KIAA0528_uc010sit.1_Intron|KIAA0528_uc010siu.1_Intron|KIAA0528_uc001rfr.2_Intron	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
BCAT1	586	broad.mit.edu	37	12	24989606	24989606	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24989606delA	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495			branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)													---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25260649	25260649	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25260649delG	uc001rgh.2	+						LRMP_uc010sja.1_Intron|LRMP_uc010sjb.1_Intron|LRMP_uc001rgi.2_Intron|LRMP_uc010sjc.1_Intron|LRMP_uc010sjd.1_Intron	NM_006152	NP_006143			lymphoid-restricted membrane protein						vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)																	---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26377487	26377487	+	Intron	DEL	T	-	-	rs77713712		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26377487delT	uc001rhe.2	+						SSPN_uc001rhd.2_Intron|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077			sarcospan isoform 1						cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26629765	26629765	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26629765delT	uc001rhg.2	-						ITPR2_uc009zjg.1_Intron	NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26807105	26807105	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26807105delA	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26868528	26868529	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26868528_26868529insG	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	27855781	27855781	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27855781delA								REP15 (5215 upstream) : MRPS35 (7948 downstream)																																			---	---	---	---
ERGIC2	51290	broad.mit.edu	37	12	29502923	29502923	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29502923delA	uc001riv.2	-						ERGIC2_uc001riw.2_Intron	NM_016570	NP_057654			PTX1 protein						vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)													---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31435557	31435557	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31435557delA	uc010sjz.1	-	6					FAM60A_uc001rkd.2_3'UTR|FAM60A_uc010ska.1_3'UTR|FAM60A_uc001rke.2_3'UTR|FAM60A_uc010skb.1_RNA|FAM60A_uc001rkc.2_3'UTR	NM_021238	NP_067061			family with sequence similarity 60, member A												0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)																	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31585981	31585981	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31585981delT	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_3'UTR	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40265442	40265442	+	Intron	DEL	T	-	-	rs78698425		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40265442delT	uc010skm.1	-						C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Intron	NM_052885	NP_443117			solute carrier family 2 (facilitated glucose							integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)													HNSCC(50;0.14)			---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45741713	45741713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45741713delT	uc001roo.2	+						ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Intron|ANO6_uc010slg.1_Intron	NM_001025356	NP_001020527			anoctamin 6 isoform a						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2																		---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46275603	46275603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46275603delT	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.1_Intron|ARID2_uc001rou.1_Intron	NM_152641	NP_689854			AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49719150	49719154	+	Intron	DEL	AAAAA	-	-	rs111795391		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49719150_49719154delAAAAA	uc001rtx.3	+						TROAP_uc009zlh.2_Intron|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471			tastin isoform 1						cell adhesion	cytoplasm				ovary(1)	1																		---	---	---	---
TMBIM6	7009	broad.mit.edu	37	12	50151817	50151817	+	Intron	DEL	A	-	-	rs80171037		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50151817delA	uc001rux.2	+						TMBIM6_uc010sml.1_Intron|TMBIM6_uc001ruy.2_Intron|TMBIM6_uc001ruz.2_Intron	NM_003217	NP_003208			testis enhanced gene transcript (BAX inhibitor						apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0																		---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53470826	53470827	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53470826_53470827delAA	uc001sbt.1	-						SPRYD3_uc010snw.1_Intron	NM_032840	NP_116229			SPRY domain containing 3											central_nervous_system(1)	1																		---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53865350	53865350	+	Intron	DEL	G	-	-	rs149798027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53865350delG	uc001sdl.3	+						PCBP2_uc001sdc.3_Intron|PCBP2_uc001sdb.3_Intron|PCBP2_uc001sde.3_Intron|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Intron|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Intron	NM_001128911	NP_001122383			poly(rC) binding protein 2 isoform d						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0																		---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56865713	56865713	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56865713delG	uc001slj.2	-						GLS2_uc009zos.2_Intron|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399			glutaminase 2 precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57562807	57562807	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57562807delG	uc001snd.2	+						LRP1_uc009zpi.1_Intron	NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57642161	57642163	+	Intron	DEL	TTT	-	-	rs113333044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57642161_57642163delTTT	uc001snp.2	-						STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501			SH3 and cysteine rich domain 3						intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58145599	58145599	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58145599delA	uc001spv.2	-						CDK4_uc010ssb.1_Intron|CDK4_uc001spw.2_Intron	NM_000075	NP_000066			cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)					Mis			melanoma 			Hereditary_Melanoma				---	---	---	---
TSFM	10102	broad.mit.edu	37	12	58180702	58180702	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58180702delT	uc001sqi.2	+						TSFM_uc010sse.1_Intron|TSFM_uc001sqh.2_Intron|TSFM_uc010ssf.1_Intron	NM_005726	NP_005717			Ts translation elongation factor, mitochondrial						regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64828782	64828782	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64828782delT	uc001ssb.2	+							NM_007235	NP_009166			tRNA exportin						intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)														---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66531937delA	uc001stc.2	-	7	596	c.520delT	c.(520-522)TATfs	p.Y174fs	LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Del_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Del_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Del_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Del_p.F158fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)														---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72287221	72287222	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72287221_72287222delTG	uc001swu.2	+						TBC1D15_uc009zrv.2_Intron|TBC1D15_uc010stt.1_Intron|TBC1D15_uc001swv.2_Intron|TBC1D15_uc001sww.2_Intron	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73057100	73057100	+	3'UTR	DEL	T	-	-	rs77607591		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73057100delT	uc001sxa.2	+	19						NM_013381	NP_037513			thyrotropin-releasing hormone degrading enzyme						cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75435987	75435988	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:75435987_75435988delTT	uc009zry.2	-						KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron	NM_139136	NP_631874			Shaw-related voltage-gated potassium channel						energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80658629	80658629	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80658629delA								PPP1R12A (329394 upstream) : PTPRQ (179497 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	12	80706601	80706601	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80706601delT								PPP1R12A (377366 upstream) : PTPRQ (131525 downstream)																																			---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81648872	81648873	+	3'UTR	INS	-	T	T	rs116290027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81648872_81648873insT	uc001szl.1	+	16					ACSS3_uc001szm.1_3'UTR|ACSS3_uc001szn.1_3'UTR	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	89984602	89984603	+	3'UTR	DEL	TT	-	-	rs78076751		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89984602_89984603delTT	uc001tbh.2	-	20					ATP2B1_uc001tbg.2_3'UTR|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_3'UTR	NM_001682	NP_001673			plasma membrane calcium ATPase 1 isoform 1b						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
MRPL42	28977	broad.mit.edu	37	12	93873154	93873154	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93873154delT	uc001tcr.2	+						MRPL42_uc001tcq.2_Intron|MRPL42_uc001tcs.2_Intron|MRPL42_uc001tct.2_Intron	NM_172177	NP_751917			mitochondrial ribosomal protein L42 isoform a						translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			ovary(2)	2																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95657043	95657043	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95657043delA	uc001tdz.2	+						VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Intron|VEZT_uc001tdt.2_Intron|VEZT_uc009zsz.1_Intron|VEZT_uc001tdv.2_Intron|VEZT_uc001tdw.1_Intron|VEZT_uc009zta.1_Intron	NM_017599	NP_060069			vezatin, adherens junctions transmembrane							acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97082938	97082938	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97082938delT	uc001tet.1	+							NM_198520	NP_940922			hypothetical protein LOC374467											skin(6)|ovary(1)	7																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100709304	100709304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100709304delT	uc001thn.2	+						SCYL2_uc009ztw.1_Intron|SCYL2_uc001thm.1_Intron	NM_017988	NP_060458			SCY1-like 2 protein						endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101700374	101700374	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101700374delT	uc001tia.1	+							NM_014503	NP_055318			down-regulated in metastasis						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102128683	102128683	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102128683delA	uc001tiq.2	-						SYCP3_uc001tir.2_Intron|SYCP3_uc001tis.2_Intron	NM_153694	NP_710161			synaptonemal complex protein 3						cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0																		---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106903453	106903453	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106903453delA	uc001tlp.2	+	28					POLR3B_uc001tlq.2_3'UTR	NM_018082	NP_060552			DNA-directed RNA polymerase III B isoform 1						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113645153	113645153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113645153delA	uc001tuv.1	-						IQCD_uc001tuu.2_Intron	NM_138451	NP_612460			IQ motif containing D											ovary(1)	1																		---	---	---	---
SLC24A6	80024	broad.mit.edu	37	12	113748006	113748006	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113748006delC	uc001tvc.2	-						SLC24A6_uc001tuz.2_Intron|SLC24A6_uc001tva.2_Intron|SLC24A6_uc001tvb.2_Intron	NM_024959	NP_079235			solute carrier family 24 member 6 precursor						response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	119633369	119633370	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119633369_119633370insG								HSPB8 (819 upstream) : LOC144742 (88260 downstream)																																			---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120809497	120809497	+	5'Flank	DEL	A	-	-	rs112962110		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120809497delA	uc001tye.1	-							NM_002442	NP_002433			musashi 1						nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RNF10	9921	broad.mit.edu	37	12	120990203	120990203	+	Intron	DEL	A	-	-	rs112757664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120990203delA	uc001typ.3	+						RNF10_uc010szk.1_Intron|RNF10_uc001tyq.3_Intron	NM_014868	NP_055683			ring finger protein 10						negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121660202	121660202	+	Intron	DEL	T	-	-	rs35562888		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121660202delT	uc001tzr.2	+						P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Intron|P2RX4_uc009zxb.2_Intron|P2RX4_uc010szt.1_Intron	NM_002560	NP_002551			purinergic receptor P2X4						endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121972254	121972256	+	Intron	DEL	AAA	-	-	rs77092244		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121972254_121972256delAAA	uc001uat.2	-						KDM2B_uc001uas.2_Intron|KDM2B_uc001uau.2_Intron|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979			F-box and leucine-rich repeat protein 10 isoform						embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122819156	122819156	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122819156delT	uc001ucg.1	-						CLIP1_uc001uch.1_Intron|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947			restin isoform a						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123107166	123107167	+	Intron	DEL	AA	-	-	rs75934693		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123107166_123107167delAA	uc001ucv.2	+						KNTC1_uc010taf.1_Intron|GPR81_uc001ucw.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123816078	123816078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123816078delT	uc010tap.1	-						SBNO1_uc010tao.1_Intron|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Intron|SBNO1_uc001ueu.2_Intron|SBNO1_uc001uev.2_Intron|SBNO1_uc009zxy.1_Intron	NM_018183	NP_060653			sno, strawberry notch homolog 1								ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124337720	124337720	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124337720delT	uc001uft.3	+							NM_207437	NP_997320			dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125465270_125465272delCTC	uc001ugy.2	-	4	601_603	c.502_504delGAG	c.(502-504)GAGdel	p.E168del		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	19761247	19761248	+	IGR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19761247_19761248delTT								TUBA3C (5311 upstream) : LOC100101938 (75693 downstream)																																			---	---	---	---
LOC100101938	100101938	broad.mit.edu	37	13	19868887	19868888	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19868887_19868888insA	uc010tck.1	-							NR_027248				Homo sapiens cDNA clone IMAGE:5265638.												0																		---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28845155	28845155	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28845155delA	uc001urz.2	+						PAN3_uc010tdo.1_Intron|PAN3_uc001ury.2_Intron|PAN3_uc001urx.2_Intron	NM_175854	NP_787050			PABP1-dependent poly A-specific ribonuclease						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28886057	28886057	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28886057delA	uc001usb.3	-						FLT1_uc010aap.2_Intron|FLT1_uc010aaq.2_Intron|FLT1_uc001usa.3_Intron	NM_002019	NP_002010			fms-related tyrosine kinase 1 isoform 1						cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32313942	32313942	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32313942delA	uc001utt.2	+						RXFP2_uc010aba.2_Intron	NM_130806	NP_570718			relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33320006	33320006	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33320006delT	uc010abf.2	+						PDS5B_uc010abg.2_Intron	NM_015032	NP_055847			PDS5, regulator of cohesion maintenance, homolog						cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33344888delA	uc010abf.2	+	33	4319	c.4161delA	c.(4159-4161)CCAfs	p.P1387fs	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1387					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34400078	34400078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:34400078delT	uc001uuz.2	+						RFC3_uc001uva.2_Intron|RFC3_uc010ted.1_Intron	NM_002915	NP_002906			replication factor C 3 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36006603	36006603	+	Intron	DEL	T	-	-	rs75161455		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36006603delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36219988	36219988	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36219988delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_Intron|NBEA_uc001uvd.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38172642	38172642	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38172642delA	uc001uwo.3	-						POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Intron|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron|POSTN_uc010tex.1_Intron	NM_006475	NP_006466			periostin, osteoblast specific factor isoform 1						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40268934	40268934	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40268934delT	uc001uxh.2	+						COG6_uc001uxi.2_Intron|COG6_uc010acb.2_Intron	NM_020751	NP_065802			component of oligomeric golgi complex 6 isoform						protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	45170283	45170283	+	IGR	DEL	A	-	-	rs35230491		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45170283delA								TSC22D1 (19582 upstream) : NUFIP1 (343101 downstream)																																			---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46919832	46919832	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46919832delT	uc010acl.2	-						C13orf18_uc010tfy.1_Intron|C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_Intron|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Intron|C13orf18_uc001vbh.3_Intron|C13orf18_uc001vbi.3_Intron	NM_025113	NP_079389			hypothetical protein LOC80183												0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47224214	47224214	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47224214delA	uc001vbj.2	+						LRCH1_uc010acp.2_Intron|LRCH1_uc001vbk.2_Intron|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931			leucine-rich repeats and calponin homology (CH)											ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)														---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53000038	53000038	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53000038delA	uc001vgs.2	-						VPS36_uc001vgq.2_Intron	NM_016075	NP_057159			vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616753	60616754	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616753_60616754insA	uc001vht.2	-						DIAPH3_uc001vhw.1_Intron|DIAPH3_uc010aed.1_Intron|DIAPH3_uc010aee.1_Intron|uc001vhx.2_Intron	NM_001042517	NP_001035982			diaphanous homolog 3 isoform a						actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	67840882	67840882	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67840882delT								PCDH9 (36414 upstream) : None (None downstream)																																			---	---	---	---
KLF5	688	broad.mit.edu	37	13	73649755	73649755	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73649755delT	uc001vje.2	+						KLF5_uc001vjd.2_Intron	NM_001730	NP_001721			Kruppel-like factor 5						transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77780725	77780725	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77780725delA	uc001vkf.2	-						MYCBP2_uc010aev.2_Intron	NM_015057	NP_055872			MYC binding protein 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176755	79176756	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79176755_79176756delAC	uc001vkv.2	-						uc001vku.1_Intron	NM_006237	NP_006228			POU domain, class 4, transcription factor 1						axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)														---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96251812	96251812	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96251812delA	uc001vmk.2	-						DZIP1_uc001vmj.2_5'UTR|DZIP1_uc001vml.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673085	98673085	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673085delT	uc001vne.2	+							NM_002271	NP_002262			importin 5						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
UBAC2	337867	broad.mit.edu	37	13	100020309	100020309	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100020309delT	uc001voa.3	+						UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Intron	NM_001144072	NP_001137544			UBA domain containing 2 isoform 1							integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20818653	20818654	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20818653_20818654insT	uc001vxc.2	+						PARP2_uc001vxd.2_Intron|PARP2_uc001vxb.1_Intron	NM_005484	NP_005475			poly (ADP-ribose) polymerase family, member 2						protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
Unknown	0	broad.mit.edu	37	14	21302182	21302183	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21302182_21302183delAA								RNASE1 (31146 upstream) : RNASE3 (57379 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	14	22293607	22293607	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22293607delA	uc010tmf.1	+						uc001wbw.2_5'Flank|uc010ais.1_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000374943;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22409536	22409542	+	Intron	DEL	TCTCTTT	-	-	rs57759840		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22409536_22409542delTCTCTTT	uc001wbw.2	+						uc010tmg.1_Intron|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010ajb.1_Intron|uc001wck.2_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22987602	22987602	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22987602delA	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfo.2_Intron|uc001wfp.2_Intron|uc001wfq.1_5'Flank|uc001wfr.1_5'Flank|uc010ajz.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	23020942	23020942	+	RNA	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23020942delT	uc001wcx.3	+	7		c.1253delT			uc001wdv.3_3'UTR|uc001wec.2_3'UTR|uc001wee.3_3'UTR|uc001wei.2_3'UTR|uc001wej.2_3'UTR|uc001wek.2_3'UTR|uc001wel.2_3'UTR|uc001wem.3_3'UTR|uc001wep.2_3'UTR|uc001weq.2_3'UTR|uc001wer.2_RNA|uc001weu.2_3'UTR|uc001wev.2_3'UTR|uc001wew.2_3'UTR|uc001wfe.2_3'UTR|uc001wfk.2_3'UTR|uc010ajy.1_3'UTR|uc001wfn.2_3'UTR|uc001wfp.2_3'UTR|uc001wfx.2_3'UTR|uc001wgd.2_3'UTR|uc001wge.3_3'UTR|uc010tmx.1_3'UTR|uc001wgh.2_3'UTR|uc001wgk.2_3'UTR					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																														---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341401	23341401	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23341401delC	uc001whd.2	+	1					LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764			low density lipoprotein receptor-related protein						endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874770	23874770	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874770delC	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24631142	24631144	+	Intron	DEL	TTG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24631142_24631144delTTG	uc001wmq.2	+						RNF31_uc001wmp.2_Intron|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075			interferon-stimulated transcription factor 3,						interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31581823	31581823	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31581823delT	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31583617	31583617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31583617delA	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31777238	31777238	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31777238delA	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31789928	31789928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31789928delT	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
NUBPL	80224	broad.mit.edu	37	14	32142486	32142486	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32142486delA	uc001wrk.3	+						NUBPL_uc010amj.2_Intron|NUBPL_uc010tpl.1_Intron	NM_025152	NP_079428			nucleotide binding protein-like						mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36244342	36244342	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36244342delT	uc001wti.2	-						RALGAPA1_uc001wtj.2_Intron|RALGAPA1_uc010tpv.1_Intron|RALGAPA1_uc010tpw.1_Intron	NM_014990	NP_055805			Ral GTPase activating protein, alpha subunit 1						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36777407	36777407	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36777407delA	uc001wtm.2	-						MBIP_uc001wto.2_Intron|MBIP_uc010tpy.1_Intron|MBIP_uc001wtn.2_Intron	NM_016586	NP_057670			MAP3K12 binding inhibitory protein 1 isoform 1						histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39532705	39532705	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39532705delA	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_Intron	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	39855714	39855714	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39855714delT								CTAGE5 (35319 upstream) : FBXO33 (11164 downstream)																																			---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39868656	39868656	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39868656delA	uc001wvk.2	-	4						NM_203301	NP_976046			F-box protein 33												0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50655134	50655134	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50655134delA	uc001wxs.3	-						SOS2_uc010tql.1_Intron	NM_006939	NP_008870			son of sevenless homolog 2						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097034	60097034	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097034delC	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61441971	61441971	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61441971delA	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64867679	64867679	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64867679delT	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66135890	66135890	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:66135890delA	uc001xin.2	+						FUT8_uc001xio.2_Intron|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Intron|FUT8_uc001xip.2_Intron|FUT8_uc001xiq.2_Intron|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368			fucosyltransferase 8 isoform a						in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)														---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76185973	76185973	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76185973delA	uc001xrx.2	+						TTLL5_uc010ask.1_Intron|TTLL5_uc001xry.1_Intron	NM_015072	NP_055887			tubulin tyrosine ligase-like family, member 5						protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021964	78021964	+	Intron	DEL	T	-	-	rs151267420	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78021964delT	uc001xub.2	-							NM_004863	NP_004854			serine palmitoyltransferase, long chain base							integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670639	81670639	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81670639delT	uc001xvf.1	-						GTF2A1_uc010atb.1_Intron|GTF2A1_uc001xvg.1_Intron|GTF2A1_uc001xvh.1_Intron|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943			TFIIA alpha, p55 isoform 1						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	83158940	83158941	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:83158940_83158941insT								None (None upstream) : None (None downstream)																																			---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92482002	92482002	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92482002delA	uc001xzy.2	-						TRIP11_uc010auf.1_Intron	NM_004239	NP_004230			thyroid hormone receptor interactor 11						transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93021960	93021960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93021960delT	uc001yap.2	+						RIN3_uc010auk.2_Intron	NM_024832	NP_079108			Ras and Rab interactor 3						endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93282502	93282502	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93282502delT	uc001yaz.1	+							NM_005113	NP_005104			Golgi autoantigen, golgin subfamily a, 5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)				T	RET	papillary thyroid								---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95581844	95581844	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95581844delA	uc001ydw.2	-						DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron	NM_030621	NP_085124			dicer1						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97019076	97019076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97019076delT	uc001yfq.2	+						PAPOLA_uc001yfr.2_Intron|PAPOLA_uc010twv.1_Intron|PAPOLA_uc010avp.2_Intron	NM_032632	NP_116021			poly(A) polymerase alpha						mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
EML1	2009	broad.mit.edu	37	14	100377967	100377967	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100377967delT	uc001ygs.2	+						EML1_uc010tww.1_Intron|EML1_uc001ygr.2_Intron	NM_004434	NP_004425			echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102548312	102548312	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102548312delA	uc001yku.3	-						HSP90AA1_uc001ykv.3_Intron	NM_005348	NP_005339			heat shock 90kDa protein 1, alpha isoform 2						axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)													---	---	---	---
XRCC3	7517	broad.mit.edu	37	14	104165201	104165201	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104165201delG	uc001yny.3	-	10	1355	c.975delC	c.(973-975)CCCfs	p.P325fs	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001ynz.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001yoa.3_Frame_Shift_Del_p.P325fs	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	325					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22870060	22870060	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22870060delT	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22980298	22980299	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22980298_22980299delTT	uc001yus.2	+						CYFIP1_uc001yut.2_Intron|CYFIP1_uc010aya.1_Intron|CYFIP1_uc001yuu.2_Intron|CYFIP1_uc001yuv.2_Intron	NM_014608	NP_055423			cytoplasmic FMR1 interacting protein 1 isoform						axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114116	23114116	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114116delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114370	23114370	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114370delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222784	25222784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25222784delA	uc001ywp.1	+						SNRPN_uc001ywq.1_Intron|SNRPN_uc001ywr.1_Intron|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_Intron|SNRPN_uc001ywv.1_Intron|SNRPN_uc001yww.1_Intron|SNRPN_uc001ywx.1_Intron|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_Intron	NM_022807	NP_073718			small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25227367	25227367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25227367delT	uc001ywz.1	+						PAR-SN_uc001yxa.1_RNA|PAR-SN_uc001yxc.2_RNA|PAR-SN_uc001yxb.3_RNA|PAR5_uc001yxd.2_5'Flank					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26828329	26828330	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26828329_26828330delTC	uc001zaz.2	-						GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron	NM_000814	NP_000805			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28388214	28388214	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28388214delA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28537949	28537949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28537949delA	uc001zbj.2	-						HERC2_uc001zbl.1_Intron	NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30010055	30010055	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30010055delT	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38792548	38792549	+	Intron	DEL	TG	-	-	rs12904148	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38792548_38792549delTG	uc001zke.3	-						RASGRP1_uc010bbe.2_Intron|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Intron	NM_005739	NP_005730			RAS guanyl releasing protein 1 isoform a						cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)														---	---	---	---
RAD51	5888	broad.mit.edu	37	15	41020654	41020655	+	Intron	DEL	AA	-	-	rs34910367		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41020654_41020655delAA	uc001zmi.3	+						RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Intron|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Intron	NM_002875	NP_002866			RAD51 homolog protein isoform 1						DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)									Homologous_recombination					---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43252975	43252975	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43252975delT	uc001zqq.2	-							NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43317302	43317302	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43317302delT	uc001zqq.2	-						UBR1_uc010udk.1_Intron	NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45561372	45561372	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45561372delA	uc001zva.2	+							NM_004212	NP_004203			solute carrier family 28 (sodium-coupled						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48744606	48744606	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48744606delT	uc001zwx.1	-						FBN1_uc010beo.1_Intron	NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49429298	49429298	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49429298delT	uc001zxf.2	-						COPS2_uc001zxh.2_Intron|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227			COP9 constitutive photomorphogenic homolog						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)														---	---	---	---
GABPB1	2553	broad.mit.edu	37	15	50571062	50571062	+	Intron	DEL	A	-	-	rs71993721		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50571062delA	uc001zyb.2	-						GABPB1_uc001zya.2_Intron|GABPB1_uc010ufg.1_Intron	NM_005254	NP_005245			GA binding protein transcription factor, beta						positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1																		---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51745633	51745633	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51745633delT	uc002abf.2	-						DMXL2_uc002abd.2_Intron|DMXL2_uc010ufy.1_Intron|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078			Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53901640	53901640	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53901640delG	uc002acj.2	-							NM_182758	NP_877435			WD repeat domain 72											lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55726958	55726958	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55726958delA	uc002acy.2	-						DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_Intron|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002adc.2_Intron|DYX1C1_uc002add.2_Intron	NM_020739	NP_065790			cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55930705	55930705	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55930705delT	uc002adg.2	-							NM_173814	NP_776175			protogenin precursor						multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59359441	59359443	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59359441_59359443delTTT	uc002afv.2	+						RNF111_uc002afs.2_Intron|RNF111_uc002aft.2_Intron|RNF111_uc002afu.2_Intron|RNF111_uc002afw.2_Intron|RNF111_uc002afx.2_Intron	NM_017610	NP_060080			ring finger protein 111						multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)														---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62242755	62242756	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62242755_62242756delAA	uc002agz.2	-						VPS13C_uc002aha.2_Intron|VPS13C_uc002ahb.1_Intron|VPS13C_uc002ahc.1_Intron	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945625	62945626	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945625_62945626delCT	uc002alb.3	+							NM_015059	NP_055874			talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TPM1	7168	broad.mit.edu	37	15	63358033	63358033	+	Intron	DEL	T	-	-	rs111767657		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63358033delT	uc002alg.2	+						TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc002alp.2_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005			tropomyosin 1 alpha chain isoform 1						cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0																		---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64422659	64422659	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64422659delA	uc002amv.2	+						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Intron|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Intron|SNX1_uc010bgw.2_Intron	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64923741	64923741	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64923741delT	uc002ann.2	+							NM_015042	NP_055857			zinc finger protein 609							nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65411613	65411613	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65411613delA	uc002aol.2	-							NM_005707	NP_005698			programmed cell death 7						apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0																		---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621076	65621076	+	3'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65621076delG	uc002aos.2	-	14					IGDCC3_uc002aor.1_3'UTR	NM_004884	NP_004875			putative neuronal cell adhesion molecule											ovary(3)	3																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70949255	70949255	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70949255delA	uc002asr.2	-	19					UACA_uc010uke.1_3'UTR|UACA_uc002asq.2_3'UTR	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70987451	70987451	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70987451delA	uc002asr.2	-						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Intron|UACA_uc010bin.1_Intron	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184328	71184328	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71184328delG	uc002asv.2	-	1	426	c.284delC	c.(283-285)CCGfs	p.P95fs	LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	95							DNA binding|metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71341735	71341735	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71341735delT	uc002asw.2	+						LRRC49_uc002asu.2_Intron|LRRC49_uc002asx.2_Intron|LRRC49_uc010ukf.1_Intron|LRRC49_uc002asy.2_Intron|LRRC49_uc002asz.2_Intron	NM_017691	NP_060161			leucine rich repeat containing 49							cytoplasm|microtubule				ovary(1)	1																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615063	73615063	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73615063delC	uc002avp.2	-	8	4365	c.3371delG	c.(3370-3372)GGTfs	p.G1124fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1124	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311041	75311041	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75311041delT	uc002azk.1	+						SCAMP5_uc002azl.1_Intron|SCAMP5_uc002azm.1_Intron|SCAMP5_uc002azn.1_Intron|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417			secretory carrier membrane protein 5						exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1																		---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75702784	75702784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75702784delA	uc002bai.2	-						SIN3A_uc002baj.2_Intron|SIN3A_uc010uml.1_Intron	NM_015477	NP_056292			transcriptional co-repressor Sin3A						blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5																		---	---	---	---
ISL2	64843	broad.mit.edu	37	15	76633897	76633897	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76633897delC	uc002bbw.1	+							NM_145805	NP_665804			ISL LIM homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	78189163	78189164	+	IGR	INS	-	G	G	rs148372236	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78189163_78189164insG								LINGO1 (200688 upstream) : LOC645752 (17395 downstream)																																			---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83330894	83330895	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83330894_83330895insC	uc010uoh.1	-						AP3B2_uc010uoi.1_Intron|AP3B2_uc010uoj.1_Intron|AP3B2_uc010bmp.2_Intron|AP3B2_uc010uog.1_Intron	NM_004644	NP_004635			adaptor-related protein complex 3, beta 2						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
BLM	641	broad.mit.edu	37	15	91308328	91308328	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91308328delT	uc002bpr.2	+						BLM_uc010uqh.1_Intron|BLM_uc010uqi.1_Intron|BLM_uc010bnx.2_Intron|BLM_uc002bps.1_Intron	NM_000057	NP_000048			Bloom syndrome protein						double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93444561	93444561	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93444561delT	uc002bsp.2	+						CHD2_uc002bsm.1_Intron|CHD2_uc002bsn.2_Intron|CHD2_uc002bso.1_Intron	NM_001271	NP_001262			chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	97170610	97170610	+	IGR	DEL	C	-	-	rs79611327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:97170610delC								NR2F2 (287120 upstream) : SPATA8 (156069 downstream)																																			---	---	---	---
LOC100134368	100134368	broad.mit.edu	37	16	437288	437288	+	Intron	DEL	A	-	-	rs137908843		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:437288delA	uc002cgw.1	+						uc002cgx.3_3'UTR	NR_024453				Homo sapiens cDNA clone IMAGE:3636396, partial cds.												0																		---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4788056	4788057	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4788056_4788057delTT	uc002cxn.2	+							NM_139170	NP_631909			hypothetical protein LOC146562											central_nervous_system(1)	1																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12163132	12163132	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12163132delT	uc002dby.3	+						SNX29_uc010uyx.1_Intron	NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
PARN	5073	broad.mit.edu	37	16	14700254	14700255	+	Intron	DEL	GA	-	-	rs113976422		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14700254_14700255delGA	uc010uzd.1	-						PARN_uc010uzc.1_Intron|PARN_uc010uze.1_Intron|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_Intron	NM_002582	NP_002573			poly(A)-specific ribonuclease (deadenylation						female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2																		---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22826303	22826303	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22826303delG	uc002dli.2	+	1	444	c.372delG	c.(370-372)AAGfs	p.K124fs	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	124	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24960607	24960607	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24960607delT	uc002dnb.2	-						ARHGAP17_uc002dna.2_Intron|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_3'UTR	NM_001006634	NP_001006635			nadrin isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31094274	31094275	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31094274_31094275delCT	uc002eap.2	+							NM_014699	NP_055514			zinc finger protein 646						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31428069	31428070	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31428069_31428070delCT	uc002ebv.1	+						ITGAD_uc010cap.1_Intron	NM_005353	NP_005344			integrin, alpha D precursor						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	47794600	47794600	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47794600delA								PHKB (59167 upstream) : ABCC12 (322284 downstream)																																			---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707236	50707236	+	3'UTR	DEL	A	-	-	rs75121949	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707236delA	uc002egk.2	-	4					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274			sorting nexin 20 isoform 1						cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53705553	53705553	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53705553delA	uc002ehp.2	-						RPGRIP1L_uc002eho.3_Intron|RPGRIP1L_uc010vgy.1_Intron|RPGRIP1L_uc010cbx.2_Intron|RPGRIP1L_uc010vgz.1_Intron|RPGRIP1L_uc002ehq.1_Intron	NM_015272	NP_056087			RPGRIP1-like isoform a						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
GNAO1	2775	broad.mit.edu	37	16	56377906	56377907	+	3'UTR	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56377906_56377907insC	uc002eit.3	+	8					GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073			guanine nucleotide binding protein, alpha						dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)																---	---	---	---
CIAPIN1	57019	broad.mit.edu	37	16	57466224	57466224	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57466224delA	uc002ell.1	-						CIAPIN1_uc002elk.1_Intron|CIAPIN1_uc002elm.1_Intron|CIAPIN1_uc002eln.1_Intron|CIAPIN1_uc010cda.1_Intron|CIAPIN1_uc002elo.1_Intron	NM_020313	NP_064709			cytokine induced apoptosis inhibitor 1						anti-apoptosis|apoptosis	cytoplasm|nucleolus					0																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58587613	58587613	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58587613delA	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002enx.2_Intron|CNOT1_uc002enz.1_Intron|CNOT1_uc010vik.1_5'Flank	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	60058501	60058501	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:60058501delT								None (None upstream) : None (None downstream)																																			---	---	---	---
CA7	766	broad.mit.edu	37	16	66884344	66884344	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66884344delA	uc002eqi.2	+						uc002eqh.2_Intron|CA7_uc002eqj.2_Intron	NM_005182	NP_005173			carbonic anhydrase VII isoform 1						one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)														---	---	---	---
B3GNT9	84752	broad.mit.edu	37	16	67183783	67183783	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67183783delA	uc002erf.2	-	2	927	c.606delT	c.(604-606)TTTfs	p.F202fs	uc002erg.1_Frame_Shift_Del_p.L62fs	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	202	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0																		---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67231626	67231626	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67231626delT	uc002erz.2	+						ELMO3_uc002esa.2_5'Flank|ELMO3_uc002esb.2_5'Flank|ELMO3_uc002esc.2_5'Flank	NM_001950	NP_001941			E2F transcription factor 4						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68355172	68355172	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68355172delA	uc002evy.1	+						PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Intron|PRMT7_uc002evz.1_5'Flank	NM_019023	NP_061896			protein arginine methyltransferase 7						cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
TMCO7	79613	broad.mit.edu	37	16	68952940	68952940	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68952940delT	uc002ewi.3	+							NM_024562	NP_078838			transmembrane and coiled-coil domains 7							integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69783588	69783588	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69783588delT	uc002exs.2	-							NM_014062	NP_054781			nin one binding protein							nucleus	metal ion binding|protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	70268054	70268055	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70268054_70268055delAA	uc010cfp.1	-											Homo sapiens cDNA, FLJ98908.																														---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71710659	71710659	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71710659delT	uc002fax.2	-						PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Intron	NM_015020	NP_055835			PH domain and leucine rich repeat protein							cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CTRB1	1504	broad.mit.edu	37	16	75256657	75256657	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75256657delC	uc002fds.2	+							NM_001906	NP_001897			chymotrypsin B1 precursor												0				BRCA - Breast invasive adenocarcinoma(221;0.166)														---	---	---	---
CENPN	55839	broad.mit.edu	37	16	81058306	81058306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81058306delT	uc002ffx.2	+						CENPN_uc010vnl.1_Intron|CENPN_uc010vnm.1_Intron|CENPN_uc002ffy.3_Intron	NM_001100624	NP_001094094			centromere protein N isoform 2						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81087885	81087886	+	Intron	DEL	AC	-	-	rs139808847	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81087885_81087886delAC	uc010chf.2	-							NM_001100873	NP_001094343			chromosome 16 open reading frame 46 isoform 1												0																		---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88779687	88779687	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88779687delC	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
MYO1C	4641	broad.mit.edu	37	17	1373321	1373321	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1373321delA	uc002fsp.2	-						MYO1C_uc002fsn.2_Intron|MYO1C_uc002fso.2_Intron|MYO1C_uc010vqj.1_Intron	NM_001080779	NP_001074248			myosin IC isoform a						mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2568632	2568632	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2568632delT	uc002fuw.3	+						PAFAH1B1_uc010ckb.1_Intron	NM_000430	NP_000421			platelet-activating factor acetylhydrolase,						acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1																		---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3990635	3990635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3990635delA	uc002fxe.2	-						ZZEF1_uc002fxk.1_Intron	NM_015113	NP_055928			zinc finger, ZZ type with EF hand domain 1								calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4009253	4009253	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4009253delT	uc002fxe.2	-						ZZEF1_uc002fxk.1_Intron	NM_015113	NP_055928			zinc finger, ZZ type with EF hand domain 1								calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
C17orf61	254863	broad.mit.edu	37	17	7306339	7306339	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7306339delA	uc002ggs.2	-	4					PLSCR3_uc002ggr.1_Intron|PLSCR3_uc010cmg.1_Intron	NM_152766	NP_689979			hypothetical protein LOC254863 precursor							integral to membrane				ovary(1)	1		Prostate(122;0.173)																---	---	---	---
STX8	9482	broad.mit.edu	37	17	9282137	9282137	+	Intron	DEL	A	-	-	rs139246965	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9282137delA	uc002glx.2	-							NM_004853	NP_004844			syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1																		---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9488830	9488830	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9488830delA	uc002gly.2	+						WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Intron	NM_145054	NP_659491			WD40-repeat protein upregulated in HCC isoform							cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	16745226	16745226	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16745226delC								LOC162632 (37407 upstream) : TNFRSF13B (87623 downstream)																																			---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19719998	19719998	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19719998delA	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27249005	27249005	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27249005delA	uc002hdg.1	-						PHF12_uc010wbb.1_Intron|PHF12_uc002hdi.1_Intron|PHF12_uc002hdj.1_Intron|PHF12_uc010crw.1_Intron|PHF12_uc002hdh.1_Intron	NM_001033561	NP_001028733			PHD finger protein 12 isoform 1						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)															---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29157882	29157882	+	5'Flank	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29157882delA	uc002hfs.1	+							NM_024857	NP_079133			ATPase family, AAA domain containing 5						response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---
NF1	4763	broad.mit.edu	37	17	29559062	29559069	+	Intron	DEL	TTTTTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29559062_29559069delTTTTTTTT	uc002hgg.2	+						NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron|NF1_uc002hgi.1_Intron	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30302737	30302737	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30302737delT	uc002hgs.2	+						SUZ12_uc002hgt.2_Intron	NM_015355	NP_056170			joined to JAZF1						negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)						T	JAZF1	endometrial stromal tumours								---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30500730	30500730	+	Intron	DEL	A	-	-	rs79743579		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30500730delA	uc002hgz.2	+						RHOT1_uc002hgw.2_Intron|RHOT1_uc002hgy.2_Intron|RHOT1_uc002hha.2_Intron|RHOT1_uc010csv.2_Intron|RHOT1_uc002hgx.2_Intron|RHOT1_uc010wby.1_Intron|RHOT1_uc002hhb.2_Intron|RHOT1_uc002hgv.2_Intron	NM_018307	NP_060777			ras homolog gene family, member T1 isoform 3						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)																---	---	---	---
PSMD11	5717	broad.mit.edu	37	17	30773801	30773801	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30773801delT	uc010cta.1	+						PSMD11_uc010wbz.1_Intron|PSMD11_uc002hhm.2_Intron	NM_002815	NP_002806			proteasome 26S non-ATPase subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
ACACA	31	broad.mit.edu	37	17	35633807	35633807	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35633807delA	uc002hnm.2	-						ACACA_uc002hnk.2_Intron|ACACA_uc002hnl.2_Intron|ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuz.2_Intron|ACACA_uc002hnq.2_Intron	NM_198836	NP_942133			acetyl-Coenzyme A carboxylase alpha isoform 2						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
ACACA	31	broad.mit.edu	37	17	35691607	35691608	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35691607_35691608insA	uc002hnm.2	-						ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuz.2_Intron|ACACA_uc002hnq.2_Intron|ACACA_uc002hnp.1_Intron|ACACA_uc002hnr.1_Intron	NM_198836	NP_942133			acetyl-Coenzyme A carboxylase alpha isoform 2						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35978527	35978528	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35978527_35978528delTT	uc002hoi.1	-						DDX52_uc002hoh.1_Intron	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
LOC284100	284100	broad.mit.edu	37	17	36214141	36214141	+	Intron	DEL	A	-	-	rs76035088		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36214141delA	uc002hom.1	-						LOC284100_uc002hon.1_Intron					Homo sapiens cDNA FLJ37577 fis, clone BRCOC2003513, moderately similar to 14-3-3 protein epsilon (14-3-3E).												0																		---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37111288	37111289	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37111288_37111289insT	uc002hrc.2	-							NM_001008777	NP_001008777			F-box protein 47												0																		---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38548599	38548599	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38548599delA	uc002huq.2	-							NM_001067	NP_001058			DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)													---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40003394	40003394	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40003394delA	uc010cxr.2	+						KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
KAT2A	2648	broad.mit.edu	37	17	40270182	40270182	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40270182delG	uc002hyx.2	-							NM_021078	NP_066564			general control of amino acid synthesis 5-like						chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2																		---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40685495	40685495	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40685495delT	uc002hzv.2	+							NM_000263	NP_000254			alpha-N-acetylglucosaminidase precursor							lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
RPL27	6155	broad.mit.edu	37	17	41154524	41154526	+	Intron	DEL	AAA	-	-	rs76067241		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41154524_41154526delAAA	uc002icj.2	+						RPL27_uc002ick.2_Intron	NM_000988	NP_000979			ribosomal protein L27						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome				0		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	41796307	41796311	+	IGR	DEL	TTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41796307_41796311delTTTTT								MEOX1 (57045 upstream) : SOST (34788 downstream)																																			---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41958597	41958597	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41958597delG	uc010wip.1	-						MPP2_uc002ien.1_Intron|MPP2_uc010wim.1_Intron|MPP2_uc002ieo.1_Intron|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Intron	NM_005374	NP_005365			palmitoylated membrane protein 2						signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)												OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	17	42025267	42025269	+	IGR	DEL	AAA	-	-	rs112096102		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42025267_42025269delAAA								PPY (5434 upstream) : PYY (4840 downstream)																																			---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43912267	43912268	+	3'UTR	INS	-	G	G	rs140399885	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43912267_43912268insG	uc010dap.2	+	14					CRHR1_uc010wjx.1_3'UTR|CRHR1_uc002ijp.2_3'UTR|CRHR1_uc002ijm.2_3'UTR|CRHR1_uc002ijn.2_3'UTR|CRHR1_uc010dar.2_3'UTR|CRHR1_uc010dao.2_3'UTR|CRHR1_uc010daq.2_3'UTR	NM_001145146	NP_001138618			corticotropin releasing hormone receptor 1						female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45729935	45729935	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45729935delA	uc002ilt.1	+						KPNB1_uc010wkw.1_Intron	NM_002265	NP_002256			karyopherin beta 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46441193	46441193	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46441193delA	uc002ini.1	-						SKAP1_uc002inj.1_Intron|SKAP1_uc010dbd.1_Intron|SKAP1_uc010dbe.1_Intron	NM_003726	NP_003717			src kinase associated phosphoprotein 1 isoform						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0																		---	---	---	---
MYST2	11143	broad.mit.edu	37	17	47904634	47904634	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47904634delT	uc002ipm.2	+						MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Intron|MYST2_uc010wme.1_Intron|MYST2_uc010wmf.1_Intron|MYST2_uc010wmg.1_Intron	NM_007067	NP_008998			MYST histone acetyltransferase 2						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48141615	48141615	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48141615delG	uc010dbl.2	+						ITGA3_uc010dbm.2_Intron	NM_002204	NP_002195			integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48355786	48355786	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48355786delC	uc002iqn.1	+							NM_153229	NP_694961			transmembrane protein 92 precursor							integral to membrane					0																		---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52980936	52980936	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52980936delA	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54305178	54305178	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54305178delT	uc002iun.1	+						uc002iuo.2_5'Flank	NM_153228	NP_694960			ankyrin-repeat and fibronectin type III domain											large_intestine(1)|ovary(1)	2																		---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55754524	55754525	+	Intron	INS	-	TC	TC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55754524_55754525insTC	uc002iuz.1	+						MSI2_uc010wnm.1_Intron	NM_138962	NP_620412			musashi 2 isoform a							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)				T	HOXA9	CML								---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57148100	57148101	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57148100_57148101delAA	uc002iwy.3	-						TRIM37_uc002iwz.3_Intron|TRIM37_uc002ixa.3_Intron|TRIM37_uc010woc.1_Intron	NM_001005207	NP_001005207			tripartite motif-containing 37 protein							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61913095	61913096	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61913095_61913096delTT	uc010deb.1	-						SMARCD2_uc010wpt.1_Intron|SMARCD2_uc010dea.1_Intron|SMARCD2_uc010dec.1_Intron	NM_001098426	NP_001091896			SWI/SNF-related matrix-associated						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62043618	62043618	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62043618delG	uc002jds.1	-							NM_000334	NP_000325			voltage-gated sodium channel type 4 alpha						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62474233	62474233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62474233delA	uc002jei.2	-							NM_007215	NP_009146			DNA polymerase subunit gamma-2, mitochondrial						DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62602763	62602763	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62602763delA	uc002jep.1	-						SMURF2_uc002jeq.1_Intron|SMURF2_uc002jer.1_Intron	NM_022739	NP_073576			SMAD specific E3 ubiquitin protein ligase 2						BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)															---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63186049	63186049	+	Intron	DEL	T	-	-	rs112552969		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63186049delT	uc002jfe.2	+						RGS9_uc010dem.2_Intron|RGS9_uc002jfd.2_Intron|RGS9_uc002jff.2_Intron|RGS9_uc002jfg.2_Intron	NM_003835	NP_003826			regulator of G-protein signaling 9 isoform 1						intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64125854	64125854	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64125854delT	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64179497	64179497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64179497delA	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65156546	65156547	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65156546_65156547delAA	uc010wqk.1	-						HELZ_uc002jfv.3_Intron|HELZ_uc002jfx.3_Intron	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67025161	67025161	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67025161delT	uc002jhu.2	-						ABCA9_uc010dez.2_Intron	NM_080283	NP_525022			ATP-binding cassette, sub-family A, member 9						transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67124603	67124603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67124603delT	uc002jhw.1	-							NM_080284	NP_525023			ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)																	---	---	---	---
Unknown	0	broad.mit.edu	37	17	67703569	67703569	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67703569delA								MAP2K6 (165107 upstream) : KCNJ16 (367857 downstream)																																			---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74059913	74059915	+	Intron	DEL	CTC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74059913_74059915delCTC	uc002jqk.1	-						SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Intron	NM_014230	NP_055045			signal recognition particle 68kDa						response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1																		---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74477309	74477309	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74477309delG	uc002jrq.1	-						RHBDF2_uc002jrp.1_Intron|RHBDF2_uc002jrr.1_Intron|RHBDF2_uc010wtf.1_Intron|RHBDF2_uc002jrs.1_Intron	NM_024599	NP_078875			rhomboid, veinlet-like 6 isoform 1						negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0																		---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2922287	2922288	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2922287_2922288delTT	uc002klo.2	-							NM_014646	NP_055461			lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)														---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3272865	3272865	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3272865delT	uc010dkl.2	+						MYL12B_uc002klt.3_Intron|MYL12B_uc010wyv.1_Intron	NM_001144944	NP_001138416			myosin regulatory light chain MRCL2 isoform A						axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0																		---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8384458	8384458	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8384458delA	uc002knn.3	+						PTPRM_uc010dkv.2_Intron|PTPRM_uc010wzl.1_Intron	NM_002845	NP_002836			protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
Unknown	0	broad.mit.edu	37	18	10623852	10623852	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10623852delA								NAPG (71090 upstream) : FAM38B (47008 downstream)																																			---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28654582	28654583	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28654582_28654583delAA	uc002kwl.3	-						DSC2_uc002kwk.3_Intron	NM_024422	NP_077740			desmocollin 2 isoform Dsc2a preproprotein						homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)															---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28736269	28736270	+	Intron	INS	-	AC	AC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28736269_28736270insAC	uc002kwn.2	-						DSC1_uc002kwm.2_Intron	NM_024421	NP_077739			desmocollin 1 isoform Dsc1a preproprotein						homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)															---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29797210	29797210	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29797210delT	uc002kxj.3	+							NM_005925	NP_005916			meprin A beta precursor						digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31241532	31241532	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31241532delA	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32405028	32405028	+	Intron	DEL	T	-	-	rs77685796		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32405028delT	uc010dmn.1	+						DTNA_uc002kxu.2_Intron|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc002kxx.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dmk.1_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33289488	33289488	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33289488delA	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43437680	43437681	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43437680_43437681delTT	uc002lbm.2	-							NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278334	54278334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54278334delA	uc002lgg.2	-						TXNL1_uc010xdz.1_Intron|TXNL1_uc002lgh.2_Intron|TXNL1_uc002lgi.2_Intron|TXNL1_uc002lgj.1_Intron	NM_004786	NP_004777			thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
Unknown	0	broad.mit.edu	37	18	57429216	57429218	+	IGR	DEL	AAG	-	-	rs141641247	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57429216_57429218delAAG								CCBE1 (64572 upstream) : PMAIP1 (137974 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	18	58330371	58330371	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58330371delC								MC4R (290370 upstream) : CDH20 (670617 downstream)																																			---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66503864	66503867	+	Intron	DEL	AAAT	-	-	rs71369199	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66503864_66503867delAAAT	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron|CCDC102B_uc002lkj.1_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67807195	67807195	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67807195delA	uc002lkp.2	-						RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron	NM_173630	NP_775901			rotatin								binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526037	70526037	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70526037delT	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron|NETO1_uc002lkz.2_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71825155	71825155	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71825155delT	uc010dqr.1	+							NM_014177	NP_054896			hypothetical protein LOC29090 precursor						protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
FGF22	27006	broad.mit.edu	37	19	643528	643528	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:643528delG	uc010xfq.1	+	3	437	c.437delG	c.(436-438)AGGfs	p.R146fs	FGF22_uc010xfr.1_Frame_Shift_Del_p.E138fs	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	146					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PRTN3	5657	broad.mit.edu	37	19	843449	843449	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:843449delC	uc002lqa.1	+							NM_002777	NP_002768			myeloblastin						collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2873789	2873789	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2873789delA	uc002lwp.1	+						ZNF556_uc002lwq.2_Intron	NM_024967	NP_079243			zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
KIAA1543	57662	broad.mit.edu	37	19	7681267	7681267	+	Intron	DEL	T	-	-	rs72992552	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7681267delT	uc002mgv.3	+						KIAA1543_uc002mgu.3_Intron|KIAA1543_uc002mgw.2_Intron	NM_020902	NP_065953			NEZHA isoform 2						epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1																		---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7976122	7976122	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7976122delC	uc002mit.2	+						MAP2K7_uc002miv.2_Intron|MAP2K7_uc010xka.1_Intron|MAP2K7_uc010xkb.1_Intron|MAP2K7_uc010dvv.2_Intron	NM_145185	NP_660186			mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8151014	8151014	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8151014delG	uc002mjf.2	-						FBN3_uc002mje.2_Intron	NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8176750	8176750	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8176750delC	uc002mjf.2	-							NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
ZNF699	374879	broad.mit.edu	37	19	9408812	9408812	+	Intron	DEL	T	-	-	rs144670815		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9408812delT	uc002mlc.1	-							NM_198535	NP_940937			zinc finger protein 699						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9931194	9931194	+	5'Flank	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9931194delA	uc002mme.2	-						FBXL12_uc002mmd.2_5'Flank|FBXL12_uc002mmf.2_5'Flank|FBXL12_uc002mmg.2_5'Flank|FBXL12_uc002mmh.2_Intron	NM_017703	NP_060173			F-box and leucine-rich repeat protein 12								protein binding			lung(1)|kidney(1)	2																		---	---	---	---
MRPL4	51073	broad.mit.edu	37	19	10369015	10369015	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10369015delG	uc002mnm.2	+						MRPL4_uc002mnn.2_Intron|MRPL4_uc002mno.2_Intron	NM_146387	NP_666499			mitochondrial ribosomal protein L4 isoform a						translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)														---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488473	11488473	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11488473delA	uc002mrh.2	-	2										SubName: Full=Erythropoietin receptor; Flags: Fragment;							extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14732269	14732269	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14732269delA	uc002mzi.3	-						EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960			egf-like module-containing mucin-like receptor						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16625198	16625198	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16625198delA	uc002neh.1	+						MED26_uc002nee.2_Intron|C19orf44_uc002neg.2_Intron|C19orf44_uc010eai.1_Intron	NM_032207	NP_115583			hypothetical protein LOC84167												0																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17119514	17119514	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17119514delA	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337542	17337542	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17337542delC	uc002nfp.2	+	2	112	c.110delC	c.(109-111)GCCfs	p.A37fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17993148	17993148	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17993148delT	uc002nhr.3	+							NM_000453	NP_000444			solute carrier family 5 (sodium iodide						cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273703	18273703	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18273703delA	uc002nia.1	+						PIK3R2_uc002nib.1_Intron|PIK3R2_uc010ebi.1_Intron	NM_005027	NP_005018			phosphoinositide-3-kinase, regulatory subunit 2						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18775397	18775397	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18775397delT	uc002njz.1	+							NM_018316	NP_060786			kelch-like 26											ovary(1)	1																		---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20294985	20294985	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20294985delT	uc002nou.2	+							NM_052852	NP_443084			zinc finger protein 486						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	19	21823295	21823295	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21823295delT								ZNF429 (84227 upstream) : ZNF100 (83549 downstream)																																			---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30314459	30314459	+	Intron	DEL	A	-	-	rs4805483	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30314459delA	uc002nsn.2	+						CCNE1_uc002nso.2_Intron|CCNE1_uc002nsp.2_Intron	NM_001238	NP_001229			cyclin E1 isoform 1						androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36332583	36332583	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36332583delC	uc002oby.2	-						NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637			nephrin precursor						cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37917100	37917100	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37917100delA	uc002ogi.2	-						ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Intron	NM_152484	NP_689697			zinc finger protein 569						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41055990	41055991	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41055990_41055991delAA	uc002ony.2	+						SPTBN4_uc002onx.2_Intron|SPTBN4_uc002onz.2_Intron|SPTBN4_uc010egx.2_Intron|SPTBN4_uc010egy.1_Intron|SPTBN4_uc002ooa.2_Intron	NM_020971	NP_066022			spectrin, beta, non-erythrocytic 4 isoform						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096142	41096142	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41096142delC	uc002oob.2	+						SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Intron|SHKBP1_uc002ooe.2_Intron|SHKBP1_uc002oof.2_Intron|SHKBP1_uc010xvm.1_Intron|SHKBP1_uc010xvn.1_Intron|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401			SH3KBP1 binding protein 1							voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
ZFP112	7771	broad.mit.edu	37	19	44841031	44841031	+	Intron	DEL	T	-	-	rs113034578		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44841031delT	uc010ejj.2	-						ZFP112_uc002ozc.3_Intron|ZFP112_uc010xwy.1_Intron|ZFP112_uc010xwz.1_Intron	NM_001083335	NP_001076804			zinc finger protein 228 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197715	48197715	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48197715delC	uc002phh.3	+	8	2821	c.2627delC	c.(2626-2628)GCCfs	p.A876fs	GLTSCR1_uc002phi.3_Frame_Shift_Del_p.A634fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	876							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48654327	48654328	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48654327_48654328delAA	uc002pia.1	-						LIG1_uc010xze.1_Intron|LIG1_uc002phz.1_Intron|LIG1_uc002pib.1_Intron|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225			DNA ligase I						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50123757	50123757	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50123757delG	uc002poo.3	+							NM_020719	NP_065770			proline rich 12								DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
C19orf63	284361	broad.mit.edu	37	19	50985131	50985132	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50985131_50985132insG	uc002psl.2	+						C19orf63_uc002psj.2_Intron|C19orf63_uc002psk.2_Frame_Shift_Ins_p.L231fs	NM_206538	NP_996261			hematopoietic signal peptide-containing isoform							extracellular region|integral to membrane					0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52468066	52468066	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52468066delT	uc002pyd.2	-	5					uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645			zinc finger protein 350						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	55212296	55212296	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55212296delA								LILRB4 (32452 upstream) : LILRP2 (7305 downstream)																																			---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55397026	55397027	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55397026_55397027insA	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56185490	56185490	+	3'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56185490delC	uc002qlu.2	+	12					U2AF2_uc002qlt.2_3'UTR|EPN1_uc002qlw.2_5'Flank|EPN1_uc002qlv.2_5'Flank|EPN1_uc010etd.2_5'Flank|EPN1_uc002qlx.2_5'Flank	NM_007279	NP_009210			U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58512233	58512233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58512233delA	uc002qqw.2	-						ZNF606_uc010yhp.1_Intron|ZNF606_uc002qqx.1_Intron|uc002qqy.1_5'Flank|uc002qqz.1_5'Flank	NM_025027	NP_079303			zinc finger protein 606						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
Unknown	0	broad.mit.edu	37	20	2056532	2056532	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2056532delA								PDYN (81829 upstream) : STK35 (25996 downstream)																																			---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2777466	2777466	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2777466delG	uc002wgu.2	-						CPXM1_uc010gas.2_Intron	NM_019609	NP_062555			carboxypeptidase X, member 1 precursor						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17208173	17208174	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17208173_17208174insG	uc002wpm.2	+						PCSK2_uc002wpl.2_Intron|PCSK2_uc010zrm.1_Intron	NM_002594	NP_002585			proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18505351	18505351	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18505351delT	uc002wqz.1	+						SEC23B_uc002wra.1_Intron|SEC23B_uc002wrb.1_Intron|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Intron	NM_006363	NP_006354			Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20243449	20243452	+	Intron	DEL	TTTT	-	-	rs35241025		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20243449_20243452delTTTT	uc002wru.2	+						C20orf26_uc010zse.1_Intron|C20orf26_uc002wrw.2_Intron|C20orf26_uc002wrv.2_Intron	NM_015585	NP_056400			hypothetical protein LOC26074											ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21338218	21338218	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21338218delT	uc002wsf.1	+						XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_Intron	NM_012255	NP_036387			5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
CST9	128822	broad.mit.edu	37	20	23586076	23586076	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23586076delA	uc002wtl.2	-							NM_001008693	NP_001008693			cystatin 9 precursor							extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)																	---	---	---	---
Unknown	0	broad.mit.edu	37	20	29930733	29930733	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29930733delT								DEFB116 (34345 upstream) : DEFB118 (25695 downstream)																																			---	---	---	---
C20orf185	359710	broad.mit.edu	37	20	31661235	31661235	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31661235delT	uc002wym.1	+							NM_182658	NP_872599			antimicrobial peptide RYA3 precursor						innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4																		---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32199335	32199335	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32199335delT	uc002wzg.1	+						CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Intron|CBFA2T2_uc002wzf.1_Intron|CBFA2T2_uc002wzh.1_Intron|CBFA2T2_uc002wzi.1_Intron|CBFA2T2_uc002wzj.1_Intron	NM_005093	NP_005084			core-binding factor, runt domain, alpha subunit							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2																		---	---	---	---
MIR644	693229	broad.mit.edu	37	20	33054129	33054130	+	RNA	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33054129_33054130insT	hsa-mir-644|MI0003659	+						ITCH_uc002xak.2_Intron|ITCH_uc010geu.1_Intron|ITCH_uc010zuj.1_Intron																	0																		---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34766817	34766817	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34766817delA	uc002xfb.2	+						EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.2_Intron|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288			erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)																	---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35349930	35349931	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35349930_35349931insA	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40944219	40944219	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40944219delT	uc002xkg.2	-						PTPRT_uc010ggj.2_Intron	NM_007050	NP_008981			protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306343	41306344	+	Intron	DEL	AC	-	-	rs2425514	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:41306343_41306344delAC	uc002xkg.2	-						PTPRT_uc010ggj.2_Intron	NM_007050	NP_008981			protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43138337	43138337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43138337delT	uc002xme.2	-						SERINC3_uc002xmf.1_Intron|SERINC3_uc010ggs.1_Intron|SERINC3_uc010zwp.1_Intron	NM_198941	NP_945179			tumor differentially expressed protein 1							integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47870567	47870569	+	Intron	DEL	TTT	-	-	rs11353174		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47870567_47870569delTTT	uc002xui.2	-							NM_021035	NP_066363			zinc finger, NFX1-type containing 1								metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
USP25	29761	broad.mit.edu	37	21	17203605	17203605	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17203605delA	uc002yjy.1	+						USP25_uc011aby.1_Intron|USP25_uc002yjz.1_Intron|USP25_uc010gla.1_Intron	NM_013396	NP_037528			ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17250893	17250894	+	3'UTR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17250893_17250894insT	uc002yjy.1	+	24					USP25_uc011aby.1_3'UTR|USP25_uc002yjz.1_3'UTR|USP25_uc010gla.1_3'UTR	NM_013396	NP_037528			ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112407	21112408	+	IGR	DEL	GA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112407_21112408delGA								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	21	21797194	21797194	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21797194delT								None (None upstream) : C21orf131 (317720 downstream)																																			---	---	---	---
ATP5J	522	broad.mit.edu	37	21	27097750	27097750	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27097750delT	uc002yls.2	-						ATP5J_uc002ylt.2_Intron|ATP5J_uc002ylu.2_Intron|ATP5J_uc002ylv.2_Intron|ATP5J_uc002ylw.2_Intron	NM_001685	NP_001676			ATP synthase, H+ transporting, mitochondrial F0						ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0																		---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647023	33647023	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647023delT	uc002ypi.2	-						C21orf45_uc011adn.1_Intron	NM_018944	NP_061817			chromosome 21 open reading frame 45						cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34128919	34128919	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34128919delT	uc002yqn.2	-						GCFC1_uc002yqm.2_5'UTR|GCFC1_uc002yqo.2_Intron|GCFC1_uc002yqp.2_Intron	NM_016631	NP_057715			GC-rich sequence DNA-binding factor candidate							cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
DONSON	29980	broad.mit.edu	37	21	34956724	34956724	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34956724delA	uc002ysk.2	-						DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_Intron|DONSON_uc002ysl.2_Intron|DONSON_uc010gme.2_Intron|DONSON_uc002ysm.2_Intron	NM_017613	NP_060083			downstream neighbor of SON						multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43541382	43541382	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43541382delT	uc002zaf.1	+						UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc002zal.1_Intron	NM_001004416	NP_001004416			uromodulin-like 1 isoform 1 precursor							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44118958	44118958	+	Intron	DEL	T	-	-	rs1515755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44118958delT	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47862398	47862398	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47862398delT	uc002zji.3	+						PCNT_uc002zjj.2_Intron	NM_006031	NP_006022			pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
Unknown	0	broad.mit.edu	37	22	16353835	16353835	+	IGR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16353835delG								POTEH (65898 upstream) : OR11H1 (94991 downstream)																																			---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23744282	23744282	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23744282delG	uc002zxa.3	-						ZDHHC8P1_uc002zxb.3_RNA|ZDHHC8P1_uc002zwz.3_Intron	NR_003950				Homo sapiens cDNA FLJ31568 fis, clone NT2RI2001595.												0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26043916	26043917	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26043916_26043917delAA	uc003abx.3	+						ADRBK2_uc010gux.2_Intron|ADRBK2_uc003abw.2_Intron|ADRBK2_uc003aby.3_Intron	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26894669	26894669	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26894669delA	uc003acr.2	-						TFIP11_uc003acs.2_Intron|TFIP11_uc003act.2_Intron	NM_012143	NP_036275			tuftelin interacting protein 11						biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32269504	32269506	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32269504_32269506delTTT	uc003als.2	+						DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Intron|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Intron|DEPDC5_uc003alu.2_Intron|DEPDC5_uc003alv.2_Intron|DEPDC5_uc003alw.2_Intron|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Intron|DEPDC5_uc011aly.1_Intron	NM_014662	NP_055477			DEP domain containing 5 isoform 1						intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---
BPIL2	254240	broad.mit.edu	37	22	32812067	32812070	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32812067_32812070delTTTT	uc003amn.2	-						BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592			bactericidal/permeability-increasing							extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36712840	36712840	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36712840delA	uc003apg.2	-						MYH9_uc003aph.1_Intron	NM_002473	NP_002464			myosin, heavy polypeptide 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38934201	38934201	+	Intron	DEL	A	-	-	rs66487664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38934201delA	uc003avz.1	-						DMC1_uc011anv.1_Intron	NM_007068	NP_008999			DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43568708	43568708	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43568708delT	uc003bdq.2	-						TTLL12_uc003bdp.2_5'Flank|TTLL12_uc003bdr.1_Intron	NM_015140	NP_055955			tubulin tyrosine ligase-like family, member 12						protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44151722	44151722	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44151722delA	uc003bdy.1	-						EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Intron|EFCAB6_uc003beb.3_Intron	NM_022785	NP_073622			CAP-binding protein complex interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086002	47086002	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086002delC	uc003bia.2	-	12	1535	c.1428delG	c.(1426-1428)GGGfs	p.G476fs	CERK_uc010hae.2_Frame_Shift_Del_p.G278fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	476					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
ARSA	410	broad.mit.edu	37	22	51063611	51063611	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)													---	---	---	---
FAM9B	171483	broad.mit.edu	37	X	8993426	8993426	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8993426delA	uc011mhu.1	-						FAM9B_uc011mhv.1_Intron|FAM9B_uc004csh.2_Intron	NM_205849	NP_995321			family with sequence similarity 9, member B							nucleus					0		Hepatocellular(5;0.219)																---	---	---	---
TBL1X	6907	broad.mit.edu	37	X	9665481	9665481	+	Intron	DEL	G	-	-	rs72612809	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:9665481delG	uc010ndq.2	+						TBL1X_uc004csq.3_Intron|TBL1X_uc010ndr.2_Intron|TBL1X_uc004csr.2_Intron|TBL1X_uc004css.2_Intron	NM_001139466	NP_001132938			transducin beta-like 1X isoform a						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)																---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12414136	12414136	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12414136delT	uc004cuz.1	+						FRMPD4_uc011mij.1_Intron	NM_014728	NP_055543			FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645058	13645058	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645058delT	uc004cvi.2	+						EGFL6_uc004cvj.2_Intron	NM_015507	NP_056322			epidermal growth factor-like protein 6						cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16867569	16867569	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16867569delT	uc004cxt.2	-						RBBP7_uc004cxs.1_Intron|RBBP7_uc004cxu.2_Intron	NM_002893	NP_002884			retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17086437	17086438	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17086437_17086438delAA	uc004cxv.1	+						REPS2_uc004cxw.1_Intron|REPS2_uc011miw.1_Intron	NM_004726	NP_004717			RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22129815	22129816	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22129815_22129816delTG	uc004dah.2	+						PHEX_uc011mjr.1_Intron|PHEX_uc011mjs.1_Intron	NM_000444	NP_000435			phosphate-regulating neutral endopeptidase						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	26523591	26523591	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26523591delA								MAGEB6 (309829 upstream) : VENTXP1 (52863 downstream)																																			---	---	---	---
CXorf30	645090	broad.mit.edu	37	X	36392862	36392862	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:36392862delT	uc011mkc.1	+							NM_001098843	NP_001092313			hypothetical protein LOC645090											lung(2)|breast(1)	3																		---	---	---	---
DYNLT3	6990	broad.mit.edu	37	X	37699961	37699962	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37699961_37699962delAT	uc004dds.2	-							NM_006520	NP_006511			dynein, light chain, Tctex-type 3						cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity				0																		---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38144668	38144668	+	3'UTR	DEL	T	-	-	rs66997072		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38144668delT	uc004ded.1	-	15					RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025			retinitis pigmentosa GTPase regulator isoform C						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40540221	40540221	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40540221delA	uc004dex.3	-							NM_004229	NP_004220			mediator complex subunit 14						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
MAOA	4128	broad.mit.edu	37	X	43572141	43572141	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43572141delA	uc004dfy.2	+						MAOA_uc011mkw.1_Intron	NM_000240	NP_000231			monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)													---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47034512	47034512	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47034512delC	uc004dhf.2	+						RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Intron|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Intron	NM_005676	NP_005667			RNA binding motif protein 10 isoform 1						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48297697	48297697	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48297697delA								SSX4 (44912 upstream) : SLC38A5 (19231 downstream)																																			---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48372756	48372756	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48372756delG	uc010nie.1	+						PORCN_uc004djr.1_Intron|PORCN_uc004djs.1_Intron|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Intron|PORCN_uc004djw.1_Intron	NM_203475	NP_982301			porcupine isoform D						Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
RBM3	5935	broad.mit.edu	37	X	48435397	48435397	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48435397delT	uc004dkf.1	+						RBM3_uc004dkd.1_Intron|RBM3_uc004dkg.2_Intron	NM_006743	NP_006734			RNA binding motif protein 3						positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48635377	48635378	+	IGR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48635377_48635378insA								GLOD5 (3315 upstream) : GATA1 (9604 downstream)																																			---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52681587	52681587	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52681587delA	uc004dqx.1	-							NM_173358	NP_775494			synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	53043948	53043949	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53043948_53043949delAA								FAM156A (106365 upstream) : GPR173 (34557 downstream)																																			---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53285127	53285127	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53438554	53438554	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53438554delA	uc004dsg.2	-						SMC1A_uc011moe.1_Intron|SMC1A_uc011mof.1_Intron	NM_006306	NP_006297			structural maintenance of chromosomes 1A						cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64751477	64751477	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64751477delA	uc004dwa.1	-						LAS1L_uc004dwc.1_Intron|LAS1L_uc004dwd.1_Intron	NM_031206	NP_112483			LAS1-like							MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70626407	70626407	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70626407delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron|TAF1_uc004dzv.3_Intron|TAF1_uc010nld.1_5'Flank|TAF1_uc010nle.1_5'Flank|TAF1_uc010nlf.1_5'Flank|TAF1_uc004dzx.2_5'Flank|TAF1_uc004dzy.2_5'Flank	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
PIN4	5303	broad.mit.edu	37	X	71416535	71416535	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71416535delT	uc004eam.2	+						PIN4_uc004eao.1_Intron	NM_006223	NP_006214			protein (peptidyl-prolyl cis/trans isomerase)						protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)																	---	---	---	---
CHIC1	53344	broad.mit.edu	37	X	72899574	72899574	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72899574delT	uc004ebk.3	+						CHIC1_uc010nlo.2_Intron|CHIC1_uc011mql.1_Intron|CHIC1_uc004ebl.3_Intron	NM_001039840	NP_001034929			cysteine-rich hydrophobic domain 1							cytoplasmic membrane-bounded vesicle|plasma membrane					0	Renal(35;0.156)																	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76763680	76763680	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76763680delA	uc004ecp.3	-	35					ATRX_uc004ecq.3_3'UTR|ATRX_uc004eco.3_3'UTR	NM_000489	NP_000480			transcriptional regulator ATRX isoform 1						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
HMGN5	79366	broad.mit.edu	37	X	80373886	80373886	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:80373886delA	uc004eee.1	-							NM_030763	NP_110390			high-mobility group nucleosome binding domain 5						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			lung(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	81762218	81762218	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:81762218delT								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	83996004	83996004	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83996004delT								HDX (238546 upstream) : UBE2DNL (193153 downstream)																																			---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86087097	86087097	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:86087097delT	uc004eew.2	+						DACH2_uc004eex.2_Intron|DACH2_uc010nmq.2_Intron|DACH2_uc011mra.1_Intron|DACH2_uc010nmr.2_Intron	NM_053281	NP_444511			dachshund 2 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5																		---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100383497	100383497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100383497delA	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102318391	102318395	+	Intron	DEL	CCCGC	-	-	rs80081474		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102318391_102318395delCCCGC	uc004ejt.1	-							NM_018476	NP_060946			brain expressed, X-linked 1						cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110506864	110506864	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110506864delA	uc004epc.1	-						CAPN6_uc011msu.1_Intron	NM_014289	NP_055104			calpain 6						microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117527389	117527389	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117527389delA	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119387139	119387139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119387139delA	uc004esn.1	+						ZBTB33_uc010nqm.1_Intron	NM_006777	NP_006768			kaiso						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119580473	119580474	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119580473_119580474delAA	uc004est.3	-						LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Intron|LAMP2_uc010nqp.1_Intron	NM_002294	NP_002285			lysosomal-associated membrane protein 2 isoform						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	124028293	124028293	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:124028293delA	uc004euj.2	-						ODZ1_uc011muj.1_Intron|ODZ1_uc010nqy.2_Intron	NM_014253	NP_055068			odz, odd Oz/ten-m homolog 1 isoform 3						immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129204831	129204831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129204831delG	uc004evd.3	-						ELF4_uc004eve.3_Intron	NM_001421	NP_001412			E74-like factor 4						natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1								T	ERG	AML								---	---	---	---
Unknown	0	broad.mit.edu	37	X	133406914	133406914	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133406914delA								CCDC160 (27108 upstream) : PHF6 (100428 downstream)																																			---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134683426	134683426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134683426delT	uc004eyw.3	+							NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135046953	135046954	+	3'UTR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135046953_135046954insA	uc004ezi.1	-	4					MMGT1_uc011mvw.1_3'UTR	NM_173470	NP_775741			membrane magnesium transporter 1 precursor							early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1273615	1273615	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1273615delC	uc001aer.3	-						DVL1_uc002quu.2_Intron|DVL1_uc009vka.2_Intron|DVL1_uc001aeu.1_Intron	NM_004421	NP_004412			dishevelled 1						canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290110delG	uc001aew.2	-	5	932	c.901delC	c.(901-903)CGGfs	p.R301fs	MXRA8_uc001aex.3_Frame_Shift_Del_p.R301fs|MXRA8_uc001aey.3_Frame_Shift_Del_p.R301fs|MXRA8_uc010nyl.1_Frame_Shift_Del_p.R301fs|MXRA8_uc001aez.2_Frame_Shift_Del_p.R200fs|MXRA8_uc001afa.2_Frame_Shift_Del_p.R292fs	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290607	1290607	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290607delG	uc001aew.2	-						MXRA8_uc001aex.3_Intron|MXRA8_uc001aey.3_Intron|MXRA8_uc010nyl.1_Intron|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Intron	NM_032348	NP_115724			matrix-remodelling associated 8 precursor							integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6894337	6894337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6894337delT	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187619	11187619	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187619delT	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11314203	11314203	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11314203delT	uc001asd.2	-							NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MST1P9	11223	broad.mit.edu	37	1	17086003	17086003	+	Frame_Shift_Del	DEL	G	-	-	rs3982176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17086003delG	uc010ock.1	-	7	894	c.894delC	c.(892-894)GGCfs	p.G298fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	NR_002729				SubName: Full=Hepatocyte growth factor-like protein homolog;												0																		---	---	---	---
PLA2G2D	26279	broad.mit.edu	37	1	20441897	20441897	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20441897delA	uc001bcz.2	-						PLA2G2D_uc009vpo.2_Intron	NM_012400	NP_036532			phospholipase A2, group IID precursor						inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)											Multiple Myeloma(11;0.12)			---	---	---	---
TMEM50A	23585	broad.mit.edu	37	1	25679545	25679545	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25679545delT	uc001bke.2	+						TMEM50A_uc010oeq.1_Intron|TMEM50A_uc009vrr.2_Intron|TMEM50A_uc009vrs.2_Intron	NM_014313	NP_055128			small membrane protein 1							endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)														---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26624607	26624608	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26624607_26624608insG	uc001blw.2	-						UBXN11_uc001blz.1_Intron|UBXN11_uc001blv.2_Intron|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Intron|UBXN11_uc001bmb.1_Intron|UBXN11_uc010ofb.1_Intron|UBXN11_uc010ofc.1_Intron	NM_183008	NP_892120			socius isoform 2							cytoplasm|cytoskeleton				ovary(1)	1																		---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	-	-	rs140055856		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105931delG	uc001bmv.1	+	20	5915	c.5542delG	c.(5542-5544)GGGfs	p.G1848fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1631fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G694fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G176fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G90fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1848					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
TAF12	6883	broad.mit.edu	37	1	28929962	28929963	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28929962_28929963delAA	uc001bqw.2	-	5					TAF12_uc001bqx.2_3'UTR|TAF12_uc001bqy.2_3'UTR	NM_005644	NP_005635			TAF12 RNA polymerase II, TATA box binding						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38170966	38170966	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38170966delT	uc001cbr.2	+						CDCA8_uc001cbs.2_Intron|CDCA8_uc010oih.1_Intron	NM_018101	NP_060571			cell division cycle associated 8						cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
SF3A3	10946	broad.mit.edu	37	1	38446098	38446099	+	Intron	DEL	AA	-	-	rs113844754		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38446098_38446099delAA	uc001cci.2	-						SF3A3_uc010oik.1_Intron	NM_006802	NP_006793			splicing factor 3a, subunit 3						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40767618	40767618	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40767618delT	uc001cfh.1	-						COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843			alpha 2 type IX collagen precursor						axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)															---	---	---	---
SCMH1	22955	broad.mit.edu	37	1	41617396	41617397	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41617396_41617397insA	uc001cgo.2	-						SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Intron|SCMH1_uc001cgr.2_Intron|SCMH1_uc001cgs.2_Intron|SCMH1_uc001cgt.2_Intron|SCMH1_uc001cgq.2_Intron|SCMH1_uc010ojs.1_Intron	NM_001031694	NP_001026864			sex comb on midleg 1 isoform 1						anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)																---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44421863	44421863	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44421863delT	uc001ckx.2	+							NM_014652	NP_055467			importin 13						protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45111159	45111162	+	Splice_Site	DEL	AAGT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45111159_45111162delAAGT	uc001clv.1	+	12	1805	c.1445_splice	c.e12+1	p.K482_splice	RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620			ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	45287583	45287583	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45287583delA								BTBD19 (7782 upstream) : PTCH2 (505 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	1	51662882	51662882	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51662882delA								C1orf185 (49130 upstream) : RNF11 (39063 downstream)																																			---	---	---	---
TXNDC12	51060	broad.mit.edu	37	1	52520880	52520880	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52520880delT	uc001cti.2	-	1					BTF3L4_uc001ctk.2_5'Flank|BTF3L4_uc001ctl.2_5'Flank|BTF3L4_uc010onh.1_5'Flank	NM_015913	NP_056997			thioredoxin domain containing 12 precursor						activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1																		---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52923972	52923972	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52923972delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc009vze.1_Intron|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cua.1_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53287093	53287093	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53287093delT	uc001cuj.2	+						ZYG11B_uc010onj.1_Intron|ZYG11B_uc009vzh.2_Intron	NM_024646	NP_078922			zyg-11 homolog B								protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55573113	55573113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55573113delA	uc001cyg.3	-							NM_015306	NP_056121			ubiquitin specific protease 24						ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57189194	57189194	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57189194delT	uc001cym.3	-						C1orf168_uc001cyl.2_Intron	NM_001004303	NP_001004303			hypothetical protein LOC199920											ovary(3)|skin(2)	5																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62271102	62271102	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62271102delT	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_5'Flank	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62380193	62380193	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62380193delA	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_Intron	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64033964	64033964	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64033964delT	uc001dbf.2	+							NM_032437	NP_115813			EF-hand calcium binding domain 7								calcium ion binding				0																		---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67206270	67206270	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67206270delA	uc001dcr.2	+						SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Intron|SGIP1_uc001dcu.2_Intron	NM_032291	NP_115667			SH3-domain GRB2-like (endophilin) interacting						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70616970	70616970	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70616970delA	uc001der.1	-							NM_017768	NP_060238			leucine rich repeat containing 40											ovary(1)	1																		---	---	---	---
ANKRD13C	81573	broad.mit.edu	37	1	70766400	70766400	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70766400delT	uc001dex.3	-						ANKRD13C_uc009wbk.2_Intron	NM_030816	NP_110443			ankyrin repeat domain 13C						protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78188044	78188044	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78188044delA	uc001dht.2	-						USP33_uc001dhs.2_Intron|USP33_uc001dhu.2_Intron|USP33_uc001dhv.2_Intron|USP33_uc001dhw.2_Intron	NM_015017	NP_055832			ubiquitin specific protease 33 isoform 1						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84986284	84986284	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84986284delT	uc001djz.1	+	3	318	c.119delT	c.(118-120)GTTfs	p.V40fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.V40fs|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84991354	84991354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84991354delT	uc001djz.1	+						SPATA1_uc001djx.2_Intron|SPATA1_uc001djy.1_Intron	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020568	85020568	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020568delT	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85417779	85417779	+	Intron	DEL	G	-	-	rs679961	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85417779delG	uc001dkm.2	-						MCOLN2_uc001dkn.2_Intron	NM_153259	NP_694991			mucolipin 2							integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92430468	92430470	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92430468_92430470delTTT	uc001dok.3	+						BRDT_uc001dol.3_Intron|BRDT_uc010osz.1_Intron|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Intron	NM_207189	NP_997072			testis-specific bromodomain protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447354	92447354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92447354delT	uc001dok.3	+						BRDT_uc001dol.3_Intron|BRDT_uc010osz.1_Intron|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Intron	NM_207189	NP_997072			testis-specific bromodomain protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92568324	92568324	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92568324delT	uc001doo.2	+						BTBD8_uc010otc.1_Intron	NM_183242	NP_899065			BTB (POZ) domain containing 8							nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)														---	---	---	---
DR1	1810	broad.mit.edu	37	1	93826012	93826012	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93826012delA	uc001dpu.2	+						DR1_uc010otj.1_Intron	NM_001938	NP_001929			down-regulator of transcription 1						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity				0		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)														---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94685958	94685959	+	Intron	INS	-	A	A	rs149426255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94685958_94685959insA	uc001dqj.3	-						ARHGAP29_uc009wdq.1_Intron|ARHGAP29_uc001dql.2_Intron	NM_004815	NP_004806			PTPL1-associated RhoGAP 1						Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)														---	---	---	---
F3	2152	broad.mit.edu	37	1	95001871	95001871	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95001871delT	uc001dqr.2	-						F3_uc001dqp.2_Intron|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984			coagulation factor III precursor						activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)													---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98157374	98157374	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:98157374delA	uc001drv.2	-						DPYD_uc010oub.1_Intron	NM_000110	NP_000101			dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107691083	107691083	+	5'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107691083delA	uc001dvh.3	+	2					NTNG1_uc001dvf.3_5'UTR|NTNG1_uc010out.1_5'UTR|NTNG1_uc001dvc.3_5'UTR|NTNG1_uc001dvd.1_5'UTR	NM_001113226	NP_001106697			netrin G1 isoform 1						axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108315260	108315260	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:108315260delA	uc001dvk.1	-						VAV3_uc010ouw.1_Intron|VAV3_uc001dvl.1_Intron|VAV3_uc010oux.1_Intron	NM_006113	NP_006104			vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114414022	114414022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114414022delT	uc001eds.2	-						uc001edv.1_Intron|PTPN22_uc009wgq.2_Intron|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Intron|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Intron	NM_015967	NP_057051			protein tyrosine phosphatase, non-receptor type						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114976131	114976131	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114976131delA	uc001eew.2	-						TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120510373	120510373	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120510373delT	uc001eik.2	-						NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron	NM_024408	NP_077719			notch 2 preproprotein						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)				N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144855333	144855334	+	Intron	INS	-	G	G	rs112069674		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144855333_144855334insG	uc001elw.3	-						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Intron	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
GPR89A	653519	broad.mit.edu	37	1	145764599	145764599	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145764599delA	uc001eot.2	-	14					NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_3'UTR|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_3'UTR|GPR89A_uc010ozb.1_3'UTR|GPR89A_uc001eos.2_3'UTR|GPR89A_uc010ozc.1_3'UTR|GPR89A_uc010ozd.1_3'UTR	NM_001097612	NP_001091081			G protein-coupled receptor 89A isoform 1						intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)															---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146739195	146739195	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146739195delC	uc001epm.3	+						uc001epp.2_Intron|CHD1L_uc001epn.3_Intron|CHD1L_uc010ozo.1_Intron|CHD1L_uc009wjg.2_Intron|CHD1L_uc009wjh.2_Intron|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron|CHD1L_uc010ozq.1_Intron|CHD1L_uc009wji.2_Intron	NM_004284	NP_004275			chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149899306	149899306	+	Intron	DEL	A	-	-	rs75973795		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149899306delA	uc001etj.1	-						SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Intron|SF3B4_uc009wll.1_Intron	NM_005850	NP_005841			splicing factor 3b, subunit 4							nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
BNIPL	149428	broad.mit.edu	37	1	151010862	151010862	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151010862delA	uc001ewl.2	+						BNIPL_uc009wmi.2_Intron|BNIPL_uc009wmj.2_5'Flank	NM_138278	NP_612122			BCL2/adenovirus E1B 19kD interacting protein						apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151079397	151079397	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151079397delT	uc001ewr.2	+						GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219			GA repeat binding protein, beta 2						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)														---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154215938	154215938	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154215938delT	uc001fep.3	+						UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_Intron|UBAP2L_uc010pel.1_Intron|UBAP2L_uc010pen.1_Intron	NM_014847	NP_055662			ubiquitin associated protein 2-like isoform a						binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155695905	155695907	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155695905_155695907delTTT	uc001flq.2	+						DAP3_uc001flr.2_Intron|DAP3_uc001fls.2_Intron|DAP3_uc010pgl.1_Intron|DAP3_uc001flt.2_Intron|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Intron	NM_033657	NP_387506			death-associated protein 3						induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	156316804	156316805	+	IGR	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156316804_156316805delCT								C1orf182 (21 upstream) : RHBG (22198 downstream)																																			---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156499845	156499846	+	Intron	DEL	CA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156499845_156499846delCA	uc001fpf.2	-							NM_178229	NP_839943			IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160582201	160582201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160582201delA	uc001fwl.3	-						SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028			signaling lymphocytic activation molecule family						interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD247	919	broad.mit.edu	37	1	167487830	167487830	+	5'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167487830delG	uc001gei.3	-	1					CD247_uc001gej.3_5'UTR|CD247_uc001gek.2_5'UTR	NM_198053	NP_932170			T-cell receptor zeta chain isoform 1 precursor						interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)															---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172569120	172569120	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172569120delT	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172571102	172571102	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172571102delA	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173702733	173702733	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173702733delA	uc001gjc.2	+						KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Intron|KLHL20_uc001gjd.2_Intron	NM_014458	NP_055273			kelch-like 20						cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179956362	179956362	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179956362delT	uc001gnt.2	+						CEP350_uc001gnr.1_Intron|CEP350_uc009wxl.2_Intron	NM_014810	NP_055625			centrosome-associated protein 350							centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180404392	180404392	+	Intron	DEL	T	-	-	rs114573269	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180404392delT	uc001gog.2	-							NM_032360	NP_115736			acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
C1orf21	81563	broad.mit.edu	37	1	184446788	184446788	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184446788delT	uc001gqv.1	+							NM_030806	NP_110433			chromosome 1 open reading frame 21												0		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)														---	---	---	---
C1orf26	54823	broad.mit.edu	37	1	185140797	185140797	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185140797delT	uc001grg.3	+						C1orf26_uc001grh.3_Intron	NM_001105518	NP_001098988			hypothetical protein LOC54823												0																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186115162	186115162	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186115162delA	uc001grq.1	+						HMCN1_uc001grs.1_Intron	NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200632979	200632979	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200632979delA	uc009wzk.2	-						DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895			DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200801614	200801614	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200801614delT	uc001gvl.2	+						CAMSAP1L1_uc001gvk.2_Intron|CAMSAP1L1_uc001gvm.2_Intron	NM_203459	NP_982284			calmodulin regulated spectrin-associated protein							cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	201997689	201997689	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201997689delA								ELF3 (11383 upstream) : GPR37L1 (94340 downstream)																																			---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205802017	205802017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205802017delT	uc001hdj.2	-						PM20D1_uc009xbr.2_Intron	NM_152491	NP_689704			peptidase M20 domain containing 1 precursor							extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)															---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208252478	208252478	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208252478delC	uc001hgz.2	-							NM_025179	NP_079455			plexin A2 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213173991	213173991	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213173991delA	uc001hjz.2	-						ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron	NM_144567	NP_653168			LOC90806 protein												0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213290507	213290507	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213290507delT	uc010ptr.1	+						RPS6KC1_uc001hkd.2_Intron|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Intron	NM_012424	NP_036556			ribosomal protein S6 kinase, 52kDa, polypeptide						cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215777330	215777330	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215777330delT	uc001hks.2	+						KCTD3_uc001hkt.2_Intron|KCTD3_uc010pub.1_Intron|KCTD3_uc009xdn.2_Intron	NM_016121	NP_057205			potassium channel tetramerisation domain							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215914592	215914592	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215914592delA	uc001hku.1	-							NM_206933	NP_996816			usherin isoform B						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
Unknown	0	broad.mit.edu	37	1	219745879	219745880	+	IGR	INS	-	AGGA	AGGA			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:219745879_219745880insAGGA								LYPLAL1 (359673 upstream) : SLC30A10 (112889 downstream)																																			---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324483	220324483	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324483delA	uc010puk.1	-	35					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_3'UTR|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546			rab3 GTPase-activating protein, non-catalytic						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220771631	220771631	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220771631delT	uc001hmn.3	+						MARK1_uc009xdw.2_Intron|MARK1_uc010pun.1_Intron|MARK1_uc001hmm.3_Intron	NM_018650	NP_061120			MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220789238	220789238	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220789238delT	uc001hmn.3	+						MARK1_uc009xdw.2_Intron|MARK1_uc010pun.1_Intron|MARK1_uc001hmm.3_Intron	NM_018650	NP_061120			MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223980974	223980974	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223980974delA	uc010pvb.1	-						TP53BP2_uc001hod.2_Intron|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Intron	NM_001031685	NP_001026855			tumor protein p53 binding protein, 2 isoform 1						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225695604	225695604	+	Intron	DEL	T	-	-	rs76873734		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:225695604delT	uc001hpc.1	-						ENAH_uc001hpd.1_Intron|ENAH_uc001hpb.1_Intron	NM_001008493	NP_001008493			enabled homolog isoform a						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)														---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227213676	227213676	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227213676delA	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqt.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
C1orf124	83932	broad.mit.edu	37	1	231475707	231475707	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231475707delA	uc001hur.2	+						EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Intron|C1orf124_uc001hut.2_Intron	NM_032018	NP_114407			hypothetical protein LOC83932 isoform a						DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)																---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233512089	233512089	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233512089delA	uc001hvt.3	+						KIAA1804_uc001hvu.3_Intron	NM_032435	NP_115811			mixed lineage kinase 4						activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236750617	236750617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236750617delA	uc001hyd.1	-							NM_018072	NP_060542			protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237819091	237819091	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237819091delT	uc001hyl.1	+							NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243327520	243327520	+	Intron	DEL	A	-	-	rs1815604	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243327520delA	uc001hzs.2	-						CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627			centrosomal protein 170kDa isoform alpha							centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)															---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248247982	248247982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248247982delT	uc001ids.2	+							NM_175911	NP_787107			olfactory receptor, family 2, subfamily L,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)															---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7001234	7001235	+	Intron	DEL	CG	-	-	rs3085147		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7001234_7001235delCG	uc002qyo.2	-						CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Intron	NM_207315	NP_997198			UMP-CMP kinase 2 precursor						dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10101687	10101688	+	Intron	DEL	TT	-	-	rs138724700		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10101687_10101688delTT	uc002raa.2	+						GRHL1_uc002rab.2_Intron|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Intron	NM_198182	NP_937825			grainyhead-like 1						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12858399	12858399	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:12858399delT	uc002rbv.3	+	1					TRIB2_uc010yjp.1_Intron	NM_021643	NP_067675			tribbles homolog 2						negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)															OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15537483	15537483	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15537483delT	uc002rcc.1	-						NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993			neuroblastoma-amplified protein											ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24841615	24841615	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24841615delT	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24949704	24949708	+	Intron	DEL	AAAAA	-	-	rs71960773		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24949704_24949708delAAAAA	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26503128	26503128	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26503128delA	uc002rgz.2	+						HADHB_uc010ykv.1_Intron|HADHB_uc010ykw.1_Intron|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Intron	NM_000183	NP_000174			mitochondrial trifunctional protein, beta						fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26663210	26663215	+	Intron	DEL	TGTGTA	-	-	rs59636742		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26663210_26663215delTGTGTA	uc002rhg.2	+						C2orf39_uc010eym.1_Intron	NM_145038	NP_659475			hypothetical protein LOC92749												0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CIB4	130106	broad.mit.edu	37	2	26863928	26863928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26863928delT	uc002rhm.2	-							NM_001029881	NP_001025052			calcium and integrin binding family member 4								calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27305786	27305786	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27305786delG	uc002rii.3	+	4	1775	c.1347delG	c.(1345-1347)TTGfs	p.L449fs	EMILIN1_uc010eyq.1_Frame_Shift_Del_p.L449fs|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	449					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
FNDC4	64838	broad.mit.edu	37	2	27717144	27717145	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27717144_27717145insC	uc002rkx.2	-						GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734			fibronectin type III domain containing 4							integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32626139	32626139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32626139delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32828247	32828247	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32828247delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39507306	39507306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39507306delT	uc002rro.2	-						MAP4K3_uc002rrp.2_Intron|MAP4K3_uc010yns.1_Intron	NM_003618	NP_003609			mitogen-activated protein kinase kinase kinase						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
PREPL	9581	broad.mit.edu	37	2	44550340	44550340	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44550340delT	uc002ruf.2	-						PREPL_uc002rug.2_Intron|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Intron|PREPL_uc002rui.3_Intron|PREPL_uc002ruj.1_Intron|PREPL_uc002ruk.1_Intron	NM_006036	NP_006027			prolyl endopeptidase-like isoform C						proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
C2orf34	79823	broad.mit.edu	37	2	44931581	44931581	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44931581delA	uc002rum.2	+							NM_024766	NP_079042			hypothetical protein LOC79823							cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53897896	53897896	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53897896delT	uc002rxg.1	-						ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc002rxf.1_Intron	NM_016115	NP_057199			ankyrin repeat and SOCS box-containing protein 3						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54127178	54127178	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54127178delA	uc002rxp.2	-						PSME4_uc010yop.1_Intron|PSME4_uc010yoq.1_Intron|PSME4_uc010fbu.1_Intron|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429			proteasome (prosome, macropain) activator						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55894901	55894902	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55894901_55894902insA	uc002rzf.2	-						PNPT1_uc002rzg.2_Intron	NM_033109	NP_149100			polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	60910327	60910328	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60910327_60910328insG								BCL11A (129694 upstream) : PAPOLG (73055 downstream)																																			---	---	---	---
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61577527delA	uc002sbe.2	-							NM_014709	NP_055524			ubiquitin specific protease 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	68675338	68675339	+	IGR	INS	-	G	G	rs112647784	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68675338_68675339insG								PLEK (50754 upstream) : FBXO48 (14168 downstream)																																			---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69298960	69298960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69298960delT	uc002sfg.2	+						ANTXR1_uc002sfe.2_Intron|ANTXR1_uc002sff.2_Intron|ANTXR1_uc002sfd.2_Intron	NM_032208	NP_115584			anthrax toxin receptor 1 isoform 1 precursor						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
FIGLA	344018	broad.mit.edu	37	2	71014775	71014776	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71014775_71014776insT	uc002she.1	-							NM_001004311	NP_001004311			factor in the germline alpha						multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73826304	73826304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73826304delT	uc002sje.1	+						ALMS1_uc002sjf.1_Intron|ALMS1_uc002sjh.1_Intron	NM_015120	NP_055935			Alstrom syndrome 1						G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SUCLG1	8802	broad.mit.edu	37	2	84658555	84658555	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84658555delA	uc002son.2	-							NM_003849	NP_003840			succinate-CoA ligase, GDP-forming alpha subunit						tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)													---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85595705	85595705	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85595705delA	uc002spf.3	+						ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Intron|ELMOD3_uc002sph.3_Intron|ELMOD3_uc010ysn.1_Intron|ELMOD3_uc010yso.1_Intron|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493			ELMO/CED-12 domain containing 3 isoform b						phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
RGPD1	400966	broad.mit.edu	37	2	87205186	87205187	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87205186_87205187insT	uc010fgv.2	+						RMND5A_uc002srs.3_Intron|RGPD1_uc002ssb.2_Intron|RGPD1_uc002ssc.2_Intron	NM_001024457	NP_001019628			RANBP2-like and GRIP domain containing 1						intracellular transport		binding				0																		---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	87397713	87397714	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87397713_87397714delTC	uc002srs.3	+											SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1;											ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	88292400	88292400	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88292400delA								RMND5A (253634 upstream) : KRCC1 (34324 downstream)																																			---	---	---	---
FLJ40330	645784	broad.mit.edu	37	2	89083945	89083946	+	Intron	INS	-	GC	GC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89083945_89083946insGC	uc010fhf.2	+						FLJ40330_uc010fhg.2_Intron|FLJ40330_uc010fhh.2_Intron					Homo sapiens mRNA; cDNA DKFZp434J1630 (from clone DKFZp434J1630).												0																		---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97020221	97020221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97020221delT	uc002svz.1	+						NCAPH_uc010fhu.1_Intron|NCAPH_uc010fhv.1_Intron|NCAPH_uc010yum.1_Intron|NCAPH_uc010fhw.1_Intron|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156			non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)																---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98779625	98779626	+	Intron	DEL	TG	-	-	rs112049891		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98779625_98779626delTG	uc002syo.2	+						VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_Intron|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Intron|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Intron	NM_144992	NP_659429			von Willebrand factor A domain containing 3B											ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99985818	99985818	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99985818delA	uc002tab.2	+							NM_015904	NP_056988			eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL1R1	3554	broad.mit.edu	37	2	102781255	102781255	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102781255delA	uc002tbq.2	+	4	401	c.83delA	c.(82-84)GAAfs	p.E28fs	IL1R1_uc010fix.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbp.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbr.2_Frame_Shift_Del_p.E28fs	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	28	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)													---	---	---	---
Unknown	0	broad.mit.edu	37	2	106987360	106987360	+	IGR	DEL	T	-	-	rs78019139		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106987360delT								UXS1 (176565 upstream) : PLGLA (15409 downstream)																																			---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	109868231	109868231	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109868231delA	uc010ywt.1	+							NM_001099289	NP_001092759			SH3 domain containing ring finger 3								zinc ion binding			ovary(1)	1																		---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113316706	113316706	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113316706delT	uc002thw.2	+						POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_Intron|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Intron|POLR1B_uc002thy.2_Intron|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887			RNA polymerase I polypeptide B isoform 1						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113496662	113496663	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113496662_113496663insT	uc002tie.2	-						CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Intron|uc002tid.2_Intron	NM_152515	NP_689728			cytoskeleton associated protein 2-like							centrosome					0																		---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116593676	116593677	+	Intron	DEL	TG	-	-	rs10549769		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:116593676_116593677delTG	uc002tla.1	+						DPP10_uc002tlb.1_Intron|DPP10_uc002tlc.1_Intron|DPP10_uc002tle.2_Intron|DPP10_uc002tlf.1_Intron	NM_020868	NP_065919			dipeptidyl peptidase 10 isoform long						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10																		---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118865677	118865677	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118865677delT	uc002tlk.2	+						INSIG2_uc010yye.1_Intron|INSIG2_uc002tll.2_Intron	NM_016133	NP_057217			insulin induced protein 2						ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	130750777	130750777	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130750777delC								RAB6C (10466 upstream) : LOC440905 (32795 downstream)																																			---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131128612	131128612	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131128612delC	uc002trc.2	+						PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Intron|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184			protein tyrosine phosphatase, non-receptor type							cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)																	---	---	---	---
Unknown	0	broad.mit.edu	37	2	133020743	133020744	+	IGR	INS	-	T	T	rs137914230		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133020743_133020744insT								NCRNA00164 (5201 upstream) : GPR39 (153403 downstream)																																			---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135700158	135700158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135700158delA	uc002tuc.1	+						CCNT2_uc002tub.1_Intron|CCNT2_uc010zbf.1_Intron|CCNT2_uc002tud.1_Intron	NM_058241	NP_490595			cyclin T2 isoform b						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135870879	135870879	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135870879delT	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136622865	136622865	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136622865delA	uc002tuw.2	-							NM_005915	NP_005906			minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)													---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144313915	144313915	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144313915delT	uc002tvm.3	+						ARHGAP15_uc002tvn.2_Intron	NM_018460	NP_060930			ARHGAP15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148712820	148712820	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148712820delT	uc002twi.2	-						ORC4L_uc002twj.2_Intron|ORC4L_uc010zbo.1_Intron|ORC4L_uc010zbp.1_Intron|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Intron|ORC4L_uc002twk.2_Intron|ORC4L_uc010zbr.1_Intron	NM_181741	NP_859525			origin recognition complex subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149864394	149864394	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149864394delT	uc010zbu.1	+						KIF5C_uc002tws.1_Intron|KIF5C_uc002twu.1_Intron	NM_004522	NP_004513			kinesin family member 5C						microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331352	152331352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152331352delT	uc002txm.2	+						RIF1_uc002txl.2_Intron|RIF1_uc002txn.2_Intron|RIF1_uc002txo.2_Intron|RIF1_uc002txp.2_Intron|uc010fnw.1_5'Flank	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152417500	152417500	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152417500delA	uc010fnx.2	-						NEB_uc002txr.2_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162272776	162272776	+	5'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162272776delA	uc002ubw.1	+	1					TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584			T-box, brain, 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162903784	162903784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162903784delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162904110	162904110	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162904110delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012667	170012667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012667delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170033201	170033201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170033201delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170058057	170058057	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170058057delT	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171248018	171248018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171248018delT	uc002ufy.2	+						MYO3B_uc002ufv.2_Intron|MYO3B_uc010fqb.1_Intron|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_Intron|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	NM_138995	NP_620482			myosin IIIB isoform 2						response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172650406	172650407	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172650406_172650407insT	uc002uhh.2	-						SLC25A12_uc010fqh.2_Intron	NM_003705	NP_003696			solute carrier family 25, member 12						gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)													---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172823128	172823128	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172823128delA	uc002uhi.2	+						HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Intron	NM_003642	NP_003633			histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)															---	---	---	---
SP3	6670	broad.mit.edu	37	2	174783522	174783522	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174783522delA	uc002uig.2	-						SP3_uc002uie.2_Intron|SP3_uc002uif.2_Intron|SP3_uc010zel.1_Intron	NM_003111	NP_003102			Sp3 transcription factor isoform 1						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)															---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054889	177054889	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177054889delA	uc002ukv.3	+	2					HOXD1_uc010fqy.2_3'UTR|HOXD1_uc010zez.1_3'UTR	NM_024501	NP_078777			homeobox D1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)														---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178301396	178301396	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178301396delA	uc002ull.2	+						AGPS_uc010zfb.1_Intron	NM_003659	NP_003650			alkyldihydroxyacetone phosphate synthase						ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179258982	179258982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179258982delT	uc002ulx.2	+						OSBPL6_uc002uly.2_Intron|OSBPL6_uc010zfe.1_Intron|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Intron	NM_032523	NP_115912			oxysterol-binding protein-like protein 6 isoform						lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180829240	180829241	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180829240_180829241insA	uc010frh.1	-						CWC22_uc002unp.2_Intron	NM_020943	NP_065994			CWC22 spliceosome-associated protein homolog							catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192278713	192278713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192278713delT	uc010fsg.2	+						MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Intron|MYO1B_uc002usu.2_Intron|MYO1B_uc002usv.2_Intron	NM_001130158	NP_001123630			myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206988816	206988816	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206988816delT	uc002vbe.2	-	19					NDUFS1_uc010ziq.1_3'UTR|NDUFS1_uc010zir.1_3'UTR|NDUFS1_uc010zis.1_3'UTR|NDUFS1_uc010zit.1_3'UTR|NDUFS1_uc010ziu.1_3'UTR	NM_005006	NP_004997			NADH dehydrogenase (ubiquinone) Fe-S protein 1,						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210561667	210561667	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210561667delA	uc002vde.1	+	9	4662	c.4414delA	c.(4414-4416)AAAfs	p.K1472fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Del_p.K1468fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1472					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220166975	220166976	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220166975_220166976insC	uc002vkz.2	-	6	966_967	c.877_878insG	c.(877-879)GTGfs	p.V293fs	PTPRN_uc010zlc.1_Frame_Shift_Ins_p.V203fs|PTPRN_uc002vla.2_Frame_Shift_Ins_p.V293fs	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	293	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227872647	227872647	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227872647delA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227973598	227973599	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227973598_227973599insA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021599	242021599	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021599delC	uc002wah.1	+						SNED1_uc002wai.1_Intron|SNED1_uc002waj.1_Intron	NM_001080437	NP_001073906			6720455I24Rik homolog precursor						cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
ATG4B	23192	broad.mit.edu	37	2	242593946	242593946	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242593946delT	uc002wbv.2	+						ATG4B_uc002wbu.2_Intron|ATG4B_uc002wbw.2_Intron|ATG4B_uc010zox.1_Intron|ATG4B_uc010zoy.1_Intron|ATG4B_uc010fzp.2_Intron|ATG4B_uc010zoz.1_Intron	NM_013325	NP_037457			APG4 autophagy 4 homolog B isoform a						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)														---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4452827	4452827	+	Intron	DEL	T	-	-	rs72240947		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4452827delT	uc003bpz.1	-						SUMF1_uc003bps.1_Intron|SUMF1_uc011ass.1_Intron|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Intron	NM_182760	NP_877437			sulfatase modifying factor 1 isoform 1							endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4669682	4669682	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4669682delT	uc003bqa.2	+						ITPR1_uc010hbz.2_Intron|ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Intron	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10427117	10427117	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10427117delA	uc003bvt.2	-						ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331			plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12944144	12944144	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12944144delA	uc003bxt.2	-						IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Intron	NM_014869	NP_055684			IQ motif and Sec7 domain 1 isoform b						regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20217999	20217999	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20217999delA	uc003cbs.2	-						SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Intron|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Intron|SGOL1_uc003cca.2_Intron|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410			shugoshin-like 1 isoform A2						attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25661229	25661235	+	Intron	DEL	GAAAAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25661229_25661235delGAAAAAA	uc011awn.1	-						TOP2B_uc003cdj.2_Intron|TOP2B_uc011awm.1_Intron|TOP2B_uc010hff.1_Intron	NM_001068	NP_001059			DNA topoisomerase II, beta isozyme						DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
CMTM8	152189	broad.mit.edu	37	3	32301786	32301786	+	Intron	DEL	A	-	-	rs6796318	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32301786delA	uc003cex.2	+						CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199			CKLF-like MARVEL transmembrane domain containing						chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37032586	37032586	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37032586delA	uc003cgk.2	-	1					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620			EPM2A interacting protein 1							endoplasmic reticulum					0																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37547431	37547431	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37547431delT	uc003chd.2	+						ITGA9_uc003chc.2_Intron	NM_002207	NP_002198			integrin, alpha 9 precursor						axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44868019	44868019	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44868019delT	uc003cnx.3	+						KIF15_uc010hiq.2_Intron|KIF15_uc010hir.2_Intron	NM_020242	NP_064627			kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47752412	47752414	+	Intron	DEL	ATT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47752412_47752414delATT	uc003crq.2	-						SMARCC1_uc011bbd.1_Intron	NM_003074	NP_003065			SWI/SNF-related matrix-associated						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49339623	49339627	+	Intron	DEL	AAAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49339623_49339627delAAAAA	uc003cwq.2	-						USP4_uc003cwo.2_Intron|USP4_uc003cwp.2_Intron|USP4_uc003cwr.2_Intron	NM_003363	NP_003354			ubiquitin specific protease 4 isoform a						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
RBM6	10180	broad.mit.edu	37	3	49999865	49999865	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49999865delA	uc003cyc.2	+						RBM6_uc011bdh.1_Intron|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768			RNA binding motif protein 6						RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51417604delC	uc011bds.1	+	52	5572	c.5549delC	c.(5548-5550)ACCfs	p.T1850fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52662815	52662815	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52662815delG	uc003des.2	-						PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Intron|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Intron|PBRM1_uc003deu.2_Intron|PBRM1_uc003dev.2_Intron|PBRM1_uc003dew.2_Intron|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Intron|PBRM1_uc003dfb.1_Intron	NM_181042	NP_060635			polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833559	52833559	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833559delT	uc003dfv.2	+						ITIH3_uc011bek.1_Intron	NM_002217	NP_002208			inter-alpha (globulin) inhibitor H3						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52950388	52950396	+	Intron	DEL	TTTTTTTTA	-	-	rs71087030		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52950388_52950396delTTTTTTTTA	uc003dgf.2	-						SFMBT1_uc010hmr.2_Intron|SFMBT1_uc003dgg.2_Intron|SFMBT1_uc003dgh.2_Intron	NM_001005159	NP_001005159			Scm-like with four mbt domains 1						regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57494742	57494742	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57494742delT	uc003dit.2	-						DNAH12_uc003diu.2_Intron	NM_178504	NP_848599			dynein heavy chain domain 2 isoform 1						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2																		---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64184686	64184686	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64184686delT	uc003dmf.2	-							NM_198859	NP_942559			prickle-like 2							cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69104708	69104708	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69104708delA	uc003dno.2	-						UBA3_uc003dnq.2_Intron|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959			ubiquitin-activating enzyme 3 isoform 1						protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)														---	---	---	---
ARL6IP5	10550	broad.mit.edu	37	3	69153415	69153415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69153415delA	uc003dnr.2	+							NM_006407	NP_006398			ADP-ribosylation-like factor 6 interacting						L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89478476	89478476	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89478476delT	uc003dqy.2	+						EPHA3_uc010hon.1_Intron	NM_005233	NP_005224			ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
MINA	84864	broad.mit.edu	37	3	97669754	97669754	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97669754delA	uc003drz.1	-						MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Intron|MINA_uc003dsb.1_Intron|MINA_uc003dsc.1_Intron|MINA_uc010hpa.1_Intron	NM_001042533	NP_001035998			MYC induced nuclear antigen isoform a						ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100042414delT	uc003dtt.2	+						TBC1D23_uc003dts.2_Intron|TBC1D23_uc003dtu.2_Intron	NM_018309	NP_060779			TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311692	101311692	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311692delT	uc003dva.2	+	5					PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090			PEST proteolytic signal containing nuclear						cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108102761	108102761	+	Intron	DEL	T	-	-	rs73850872	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108102761delT	uc003dxa.1	-							NM_014981	NP_055796			myosin, heavy polypeptide 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108279028	108279028	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108279028delT	uc003dxb.3	-							NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108347822	108347822	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108347822delA	uc003dxd.2	+						DZIP3_uc003dxf.1_Intron|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Intron	NM_014648	NP_055463			DAZ interacting protein 3, zinc finger						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108813667	108813667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108813667delA	uc003dxl.2	-						MORC1_uc011bhn.1_Intron	NM_014429	NP_055244			MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8																		---	---	---	---
CD86	942	broad.mit.edu	37	3	121825017	121825017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121825017delT	uc003eet.2	+						CD86_uc011bjo.1_Intron|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Intron	NM_175862	NP_787058			CD86 antigen isoform 1						interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)													---	---	---	---
KPNA1	3836	broad.mit.edu	37	3	122215548	122215548	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122215548delC	uc003efd.1	-						KPNA1_uc011bjr.1_5'Flank|KPNA1_uc010hrh.2_Intron|KPNA1_uc003efe.2_Intron	NM_002264	NP_002255			karyopherin alpha 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418145	122418145	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418145delT	uc003efq.3	+						PARP14_uc010hrk.2_Intron|PARP14_uc003efr.2_5'Flank|PARP14_uc003efs.1_5'Flank	NM_017554	NP_060024			poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124458850	124458850	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124458850delT	uc003ehl.3	+						UMPS_uc003ehm.3_Intron|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Intron|UMPS_uc011bkc.1_Intron|UMPS_uc003ehn.3_Intron|UMPS_uc011bkd.1_Intron	NM_000373	NP_000364			uridine monophosphate synthase						'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)														---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195789	129195790	+	Intron	DEL	TT	-	-	rs10575192		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195789_129195790delTT	uc003emm.2	+						IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715			WD repeat domain 10 isoform 2						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
UBA5	79876	broad.mit.edu	37	3	132390860	132390860	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132390860delT	uc003epa.3	+						NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Intron|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Intron	NM_024818	NP_079094			ubiquitin-activating enzyme 5 isoform 1						protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136240317	136240317	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136240317delT	uc003era.1	-						STAG1_uc003erb.1_Intron|STAG1_uc003erc.1_Intron|STAG1_uc010hua.1_Intron|STAG1_uc003erd.2_Intron|STAG1_uc003ere.2_Intron	NM_005862	NP_005853			stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137981526	137981526	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137981526delA	uc003esa.1	+						TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Intron|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Intron|ARMC8_uc003esb.1_Intron|ARMC8_uc003esc.1_Intron|ARMC8_uc003esf.1_5'Flank	NM_015396	NP_056211			armadillo repeat containing 8 isoform 2								binding				0																		---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139086114	139086114	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139086114delA	uc003etf.3	-						COPB2_uc011bmv.1_Intron|COPB2_uc010hui.2_Intron	NM_004766	NP_004757			coatomer protein complex, subunit beta 2 (beta						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145789276	145789276	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145789276delT	uc003evs.1	-						PLOD2_uc003evq.1_Intron|PLOD2_uc011bnm.1_Intron|PLOD2_uc003evr.1_Intron	NM_000935	NP_000926			procollagen-lysine, 2-oxoglutarate 5-dioxygenase						protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
GYG1	2992	broad.mit.edu	37	3	148711907	148711907	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148711907delT	uc003ewn.2	+						GYG1_uc011bnp.1_Intron|GYG1_uc003ewo.2_Intron|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121			glycogenin 1						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
FAM194A	131831	broad.mit.edu	37	3	150420024	150420024	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150420024delC	uc003eyg.2	-						FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---
C3orf79	152118	broad.mit.edu	37	3	153203781	153203781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153203781delT	uc003ezt.2	+							NM_001101337	NP_001094807			chromosome 3 open reading frame 79												0																		---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153905449	153905449	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153905449delT	uc011bog.1	+						SGEF_uc011boh.1_Intron	NM_015595	NP_056410			Src homology 3 domain-containing guanine						regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160958626	160958627	+	Intron	DEL	TT	-	-	rs141601797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160958626_160958627delTT	uc003feb.1	+						NMD3_uc003fec.2_Intron|NMD3_uc003fed.1_Intron|NMD3_uc010hwh.2_Intron	NM_015938	NP_057022			NMD3 homolog						protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
SI	6476	broad.mit.edu	37	3	164755956	164755956	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164755956delT	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167402279	167402280	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167402279_167402280insC	uc003fex.2	-						PDCD10_uc003fez.2_Intron|PDCD10_uc003fey.2_Intron	NM_007217	NP_009148			programmed cell death 10						angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170819514	170819514	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170819514delA	uc003fhh.2	-						TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843			TRAF2 and NCK interacting kinase isoform 1						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843675	170843675	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170843675delA	uc003fhh.2	-						TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843			TRAF2 and NCK interacting kinase isoform 1						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179334935	179334936	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179334935_179334936insT	uc003fkc.2	+						NDUFB5_uc003fkd.2_Intron|NDUFB5_uc003fke.2_Intron	NM_002492	NP_002483			NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)													---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179615760	179615761	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179615760_179615761insT	uc003fki.1	-						PEX5L_uc011bqd.1_Intron|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Intron|PEX5L_uc011bqg.1_Intron|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643			peroxisomal biogenesis factor 5-like						protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180671370	180671370	+	Intron	DEL	T	-	-	rs75916673		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180671370delT	uc003fkq.2	+						FXR1_uc003fkp.2_Intron|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Intron|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Intron	NM_005087	NP_005078			fragile X mental retardation-related protein 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184742112	184742112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184742112delT	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186967887	186967887	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186967887delT	uc003frh.1	-						MASP1_uc003fri.2_Intron|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Intron|MASP1_uc011bse.1_Intron	NM_001879	NP_001870			mannan-binding lectin serine protease 1 isoform						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190165415	190165415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190165415delA	uc003fsj.2	-							NM_207316	NP_997199			transmembrane protein 207 precursor							integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193182984	193182984	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193182984delT	uc003ftd.2	-						ATP13A4_uc003fte.1_Intron|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_Intron|ATP13A4_uc003ftf.3_Intron	NM_032279	NP_115655			ATPase type 13A4						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
SDHAP2	727956	broad.mit.edu	37	3	195392917	195392917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195392917delT	uc003fuw.2	+						SDHAP2_uc003fut.3_Intron|SDHAP2_uc003fuu.3_Intron|SDHAP2_uc011btb.1_Intron|SDHAP2_uc011btc.1_Intron|SDHAP2_uc003fuv.2_Intron					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0																		---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196088571	196088571	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196088571delT	uc003fwm.3	-						UBXN7_uc003fwn.3_Intron|UBXN7_uc010iae.2_Intron	NM_015562	NP_056377			UBX domain containing 7								protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196793772	196793772	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196793772delA	uc003fxo.3	-						DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Intron|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Intron	NM_001098424	NP_001091894			discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2834925	2834925	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2834925delC	uc003gfi.3	+						SH3BP2_uc011bvp.1_Intron|SH3BP2_uc003gfj.3_Intron|SH3BP2_uc003gfk.3_Intron|SH3BP2_uc003gfl.3_Intron|SH3BP2_uc003gfm.3_Intron	NM_001122681	NP_001116153			SH3-domain binding protein 2 isoform a						signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2940408	2940408	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2940408delT	uc003ggj.1	-						C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_3'UTR	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2958218	2958218	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2958218delA	uc003ggj.1	-						C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_5'Flank|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron|NOP14_uc010icq.1_Intron	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
HTT	3064	broad.mit.edu	37	4	3129358	3129358	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3129358delT	uc011bvq.1	+							NM_002111	NP_002102			huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
TMEM128	85013	broad.mit.edu	37	4	4241997	4241997	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4241997delA	uc003ghr.1	-						TMEM128_uc003ghq.1_Intron|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Intron|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316			transmembrane protein 128							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)														---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13371634	13371634	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13371634delA	uc003gmu.2	-						RAB28_uc003gmt.2_Intron|RAB28_uc011bwz.1_Intron|RAB28_uc003gmv.2_Intron	NM_001017979	NP_001017979			RAB28, member RAS oncogene family isoform 1						small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2																		---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13485808	13485808	+	5'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13485808delG	uc003gmu.2	-	1					RAB28_uc003gmt.2_5'UTR|RAB28_uc011bwz.1_5'UTR|RAB28_uc003gmv.2_RNA	NM_001017979	NP_001017979			RAB28, member RAS oncogene family isoform 1						small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16587637	16587637	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16587637delA	uc003goz.2	-						LDB2_uc003gpa.2_Intron|LDB2_uc003gpb.2_Intron|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Intron|LDB2_uc003goy.2_Intron|LDB2_uc011bxi.1_Intron	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749784	22749787	+	Intron	DEL	TATA	-	-	rs33941035		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22749784_22749787delTATA	uc003gqp.3	+						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Intron	NM_020973	NP_066024			cytosolic beta-glucosidase isoform a						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26431945	26431945	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26431945delA	uc003grx.1	+						RBPJ_uc003gry.1_Intron|RBPJ_uc003grz.1_Intron|RBPJ_uc011bxt.1_3'UTR|RBPJ_uc003gsa.1_Intron|RBPJ_uc003gsb.1_Intron|RBPJ_uc003gsc.1_Intron|uc003gsd.2_5'Flank	NM_005349	NP_005340			recombining binding protein suppressor of						DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)																---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27004738	27004738	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27004738delA	uc003gsh.3	+						STIM2_uc003gsg.3_Intron|STIM2_uc010iex.2_Intron|STIM2_uc010iey.2_Intron	NM_020860	NP_065911			stromal interaction molecule 2						activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37590393	37590393	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37590393delA	uc003gsw.3	+						C4orf19_uc003gsy.3_Intron	NM_001104629	NP_001098099			hypothetical protein LOC55286												0																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38777276	38777276	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38777276delA	uc003gti.2	-						TLR10_uc003gtj.2_Intron|TLR10_uc003gtk.2_Intron	NM_030956	NP_112218			toll-like receptor 10 precursor						inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
KLB	152831	broad.mit.edu	37	4	39449786	39449786	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39449786delA	uc003gua.2	+						KLB_uc011byj.1_Intron	NM_175737	NP_783864			klotho beta						carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39974662	39974662	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39974662delT	uc003guv.3	-						PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Intron	NM_001100399	NP_001093869			PDS5, regulator of cohesion maintenance, homolog						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695103	47695103	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695103delA	uc003gxm.2	-						CORIN_uc011bzf.1_Intron|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_Intron	NM_006587	NP_006578			corin						peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48533084	48533087	+	Intron	DEL	TCAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48533084_48533087delTCAA	uc003gyh.1	-						FRYL_uc003gyg.1_Intron|FRYL_uc003gyi.1_Intron|FRYL_uc003gyj.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48625211	48625213	+	Intron	DEL	AAC	-	-	rs776579	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48625211_48625213delAAC	uc003gyh.1	-						FRYL_uc003gyk.2_Intron|FRYL_uc003gyl.1_Intron|FRYL_uc003gym.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
DCUN1D4	23142	broad.mit.edu	37	4	52757912	52757912	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52757912delT	uc003gze.2	+						DCUN1D4_uc003gzf.2_Intron|DCUN1D4_uc011bzn.1_Intron|DCUN1D4_uc003gzg.2_Intron|DCUN1D4_uc003gzh.2_Intron|DCUN1D4_uc011bzo.1_Intron	NM_001040402	NP_001035492			DCN1, defective in cullin neddylation 1, domain											ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)															---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52926826	52926826	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52926826delT	uc003gzl.2	+						SPATA18_uc010igl.1_Intron|SPATA18_uc011bzq.1_Intron|SPATA18_uc003gzk.1_Intron	NM_145263	NP_660306			spermatogenesis associated 18 homolog						mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56884135	56884135	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56884135delT	uc003hbi.2	+						CEP135_uc003hbj.2_Intron	NM_025009	NP_079285			centrosome protein 4						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57267248	57267248	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57267248delA	uc003hbr.2	-							NM_002703	NP_002694			phosphoribosyl pyrophosphate amidotransferase						glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---
Unknown	0	broad.mit.edu	37	4	57500223	57500223	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57500223delA								ARL9 (110165 upstream) : HOPX (13931 downstream)																																			---	---	---	---
C4orf14	84273	broad.mit.edu	37	4	57832975	57832975	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57832975delA	uc003hck.2	-							NM_032313	NP_115689			hypothetical protein LOC84273								GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
Unknown	0	broad.mit.edu	37	4	68312325	68312325	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68312325delT	uc003hdc.1	-											Homo sapiens cDNA FLJ35884 fis, clone TESTI2008960.																														---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68547233	68547233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68547233delA	uc003hdg.3	-						UBA6_uc003hdi.2_Intron|UBA6_uc003hdj.2_Intron	NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69198815	69198815	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69198815delA	uc003hdx.2	-						YTHDC1_uc003hdy.2_Intron	NM_001031732	NP_001026902			splicing factor YT521-B isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CSN2	1447	broad.mit.edu	37	4	70826811	70826812	+	5'Flank	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70826811_70826812delAA	uc003hes.3	-						CSN2_uc003het.3_5'Flank	NM_001891	NP_001882			casein beta precursor						calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity				0																		---	---	---	---
C4orf40	401137	broad.mit.edu	37	4	71027283	71027283	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71027283delT	uc003hfa.3	+						C4orf40_uc003hfb.3_Intron	NM_214711	NP_999876			hypothetical protein LOC401137 precursor							extracellular region					0																		---	---	---	---
DCK	1633	broad.mit.edu	37	4	71892332	71892333	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71892332_71892333delTT	uc003hfx.2	+						DCK_uc011cbb.1_Intron	NM_000788	NP_000779			deoxycytidine kinase						purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)													---	---	---	---
ALB	213	broad.mit.edu	37	4	74270303	74270305	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74270303_74270305delAAA	uc003hgs.3	+						ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Intron|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_5'Flank	NM_000477	NP_000468			albumin preproprotein						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
ALB	213	broad.mit.edu	37	4	74270811	74270811	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74270811delT	uc003hgs.3	+						ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Intron|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_5'Flank	NM_000477	NP_000468			albumin preproprotein						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
USO1	8615	broad.mit.edu	37	4	76726517	76726517	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76726517delT	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78081697	78081697	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78081697delA	uc003hkq.3	+						CCNG2_uc003hkn.3_Intron|CCNG2_uc011ccc.1_Intron|CCNG2_uc003hkp.3_Intron	NM_004354	NP_004345			cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79369152	79369153	+	Intron	INS	-	AT	AT			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79369152_79369153insAT	uc003hlb.2	+							NM_025074	NP_079350			Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82349077	82349077	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82349077delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82367029	82367029	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82367029delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85723104	85723104	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85723104delT	uc003hpd.2	-							NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87656212	87656212	+	Intron	DEL	T	-	-	rs77672732		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87656212delT	uc003hpz.2	+						PTPN13_uc003hpy.2_Intron|PTPN13_uc003hqa.2_Intron|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	87792172	87792172	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87792172delA								SLC10A6 (21756 upstream) : C4orf36 (5187 downstream)																																			---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95206100	95206100	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95206100delT	uc003htc.3	+						SMARCAD1_uc003htb.3_Intron|SMARCAD1_uc003htd.3_Intron|SMARCAD1_uc010ila.2_Intron|SMARCAD1_uc011cdw.1_Intron	NM_020159	NP_064544			SWI/SNF-related, matrix-associated						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99960367	99960367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99960367delT	uc003huf.3	+						METAP1_uc003hug.2_Intron	NM_015143	NP_055958			methionyl aminopeptidase 1						N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
SLC39A8	64116	broad.mit.edu	37	4	103188866	103188866	+	Intron	DEL	T	-	-	rs71705287		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103188866delT	uc003hwb.1	-						SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Intron|SLC39A8_uc003hwc.2_Intron	NM_022154	NP_071437			solute carrier family 39 (zinc transporter),							integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)														---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107037270	107037270	+	Intron	DEL	T	-	-	rs79018134		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107037270delT	uc010ilv.2	-						TBCK_uc003hyb.2_Intron|TBCK_uc003hye.2_Intron|TBCK_uc003hyc.2_Intron|TBCK_uc003hyd.2_Intron|TBCK_uc003hyf.2_Intron	NM_001163435	NP_001156907			TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107037554	107037554	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107037554delA	uc010ilv.2	-						TBCK_uc003hyb.2_Intron|TBCK_uc003hye.2_Intron|TBCK_uc003hyc.2_Intron|TBCK_uc003hyd.2_Intron|TBCK_uc003hyf.2_Intron	NM_001163435	NP_001156907			TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108608337	108608337	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108608337delA	uc003hyk.2	-						PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434			3'-phosphoadenosine 5'-phosphosulfate synthase						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
AP1AR	55435	broad.mit.edu	37	4	113186056	113186056	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113186056delT	uc003iaj.3	+						AP1AR_uc010imm.1_Intron|AP1AR_uc003iak.3_Intron	NM_018569	NP_061039			adaptor-related protein complex 1 associated						protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0																		---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239769	119239769	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119239769delT	uc003ica.1	-							NM_003619	NP_003610			neurotrypsin precursor							membrane	scavenger receptor activity			skin(1)	1																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122068097	122068097	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122068097delA	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123095926	123095926	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123095926delT	uc003ieh.2	+							NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123145659	123145659	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123145659delC	uc003ieh.2	+	21	2665	c.2620delC	c.(2620-2622)CCCfs	p.P874fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.P627fs|KIAA1109_uc010ins.1_Frame_Shift_Del_p.P217fs|KIAA1109_uc003iej.1_Frame_Shift_Del_p.P259fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	874					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128863072	128863072	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128863072delA	uc003ifp.2	-						MFSD8_uc011cgu.1_Intron|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991			major facilitator superfamily domain containing						cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2																		---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140270590	140270591	+	Intron	DEL	TT	-	-	rs112955393		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140270590_140270591delTT	uc003ihu.1	+							NM_057175	NP_476516			NMDA receptor regulated 1						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144471021	144471021	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144471021delT	uc003ijg.2	+							NM_003601	NP_003592			SWI/SNF-related matrix-associated						CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155505988	155505988	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155505988delA	uc003iod.1	-							NM_000508	NP_000499			fibrinogen, alpha polypeptide isoform alpha-E						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159603683	159603684	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159603683_159603684delTT	uc003iqb.2	+						ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Intron|ETFDH_uc010iqs.2_Intron	NM_004453	NP_004444			electron-transferring-flavoprotein dehydrogenase						fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160271577	160271577	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160271577delT	uc003iqg.3	+							NM_014247	NP_055062			Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169158399	169158400	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169158399_169158400delCT	uc003irp.2	-							NM_017631	NP_060101			DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184207093	184207093	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184207093delT	uc010irx.2	+						WWC2_uc003ivk.3_Intron|WWC2_uc003ivl.3_Intron|WWC2_uc010iry.2_Intron|WWC2_uc003ivn.3_Intron|WWC2_uc010irz.2_Intron|WWC2_uc003ivo.3_Intron	NM_024949	NP_079225			WW and C2 domain containing 2											ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)														---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186267675	186267675	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186267675delT	uc003ixh.2	+						SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Intron	NM_031953	NP_114159			sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
SDHA	6389	broad.mit.edu	37	5	240458	240458	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:240458delT	uc003jao.3	+						SDHA_uc011clv.1_Intron|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Intron|SDHA_uc003jar.3_Intron	NM_004168	NP_004159			succinate dehydrogenase complex, subunit A,						nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1321591	1321591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1321591delT	uc003jch.2	-						CLPTM1L_uc003jcg.2_Intron	NM_030782	NP_110409			CLPTM1-like						apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)														---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1409126	1409126	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1409126delT	uc003jck.2	-							NM_001044	NP_001035			solute carrier family 6 (neurotransmitter						cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)													---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1501536	1501536	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1501536delC	uc003jcm.2	-							NM_024830	NP_079106			lysophosphatidylcholine acyltransferase 1						phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)														---	---	---	---
SDHAP3	728609	broad.mit.edu	37	5	1593156	1593156	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1593156delA	uc010itg.1	-						SDHAP3_uc011cme.1_Intron					Homo sapiens cDNA clone IMAGE:40127561.												0																		---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7885676	7885677	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7885676_7885677delTT	uc003jed.2	+						MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Intron|MTRR_uc003jef.3_Intron|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_Intron	NM_024010	NP_076915			methionine synthase reductase isoform 2						methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)													---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14489275	14489275	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14489275delA	uc003jff.2	+						TRIO_uc003jfg.2_Intron	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19612813	19612813	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19612813delT	uc003jgc.2	-						CDH18_uc003jgd.2_Intron|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19746957	19746958	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19746957_19746958delAT	uc003jgc.2	-						CDH18_uc003jgd.2_Intron|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32091384	32091385	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32091384_32091385delAC	uc003jhl.2	+						PDZD2_uc003jhm.2_Intron	NM_178140	NP_835260			PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32786466	32786467	+	3'UTR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32786466_32786467delTT	uc003jhv.2	+	8					NPR3_uc011cnz.1_3'UTR|NPR3_uc003jhu.2_3'UTR|C5orf23_uc003jhw.1_5'Flank	NM_000908	NP_000899			natriuretic peptide receptor C/guanylate cyclase						osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)													---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34954259	34954259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34954259delT	uc003jjc.2	+						DNAJC21_uc003jjb.2_Intron	NM_001012339	NP_001012339			DnaJ homology subfamily A member 5 isoform 2						protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37010413	37010414	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37010413_37010414insT	uc003jkl.3	+						NIPBL_uc003jkk.3_Intron	NM_133433	NP_597677			delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37349361	37349362	+	Intron	DEL	AA	-	-	rs74712044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37349361_37349362delAA	uc003jku.1	-						NUP155_uc003jkt.1_Intron|NUP155_uc010iuz.1_Intron	NM_153485	NP_705618			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38430360	38430360	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38430360delT	uc003jlc.1	+						EGFLAM_uc003jlb.1_Intron|EGFLAM_uc003jle.1_Intron|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616			EGF-like, fibronectin type III and laminin G							cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38925278	38925279	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38925278_38925279insA	uc003jln.1	+						OSMR_uc011cpj.1_Intron	NM_003999	NP_003990			oncostatin M receptor precursor						cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353454	45353454	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45353454delA	uc003jok.2	-							NM_021072	NP_066550			hyperpolarization activated cyclic							integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
SFRS12IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64023941delT	uc003jtk.2	-	4	423	c.271delA	c.(271-273)AGGfs	p.R91fs		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	91	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)														---	---	---	---
C5orf44	80006	broad.mit.edu	37	5	64931972	64931974	+	Intron	DEL	TTT	-	-	rs71760261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64931972_64931974delTTT	uc003jtz.3	+						C5orf44_uc003jua.3_Intron|C5orf44_uc003juc.3_Intron|C5orf44_uc010iwv.2_Intron	NM_024941	NP_079217			hypothetical protein LOC80006 isoform 2											ovary(1)	1																		---	---	---	---
SGTB	54557	broad.mit.edu	37	5	64976250	64976250	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64976250delA	uc003jud.2	-							NM_019072	NP_061945			small glutamine-rich tetratricopeptide repeat								binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)														---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65279617	65279617	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65279617delC	uc003juk.1	+						ERBB2IP_uc003juh.1_Intron|ERBB2IP_uc003jui.1_Intron|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Intron|ERBB2IP_uc011cqy.1_Intron|ERBB2IP_uc011cqz.1_Intron	NM_018695	NP_061165			ERBB2 interacting protein isoform 2						basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)														---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66398594	66398594	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66398594delA	uc003jut.1	+						MAST4_uc003jus.2_Intron|MAST4_uc003juu.1_Intron|MAST4_uc011cra.1_Intron|MAST4_uc010ixa.2_Intron|MAST4_uc003juv.2_Intron|MAST4_uc003juw.2_Intron	NM_015183	NP_055998			microtubule associated serine/threonine kinase							cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
SLC30A5	64924	broad.mit.edu	37	5	68399960	68399960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68399960delT	uc003jvh.2	+						SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron	NM_022902	NP_075053			solute carrier family 30 (zinc transporter),						cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70835352	70835352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70835352delT	uc003kbp.1	+						BDP1_uc003kbo.2_Intron|BDP1_uc003kbq.1_Intron|BDP1_uc003kbr.1_Intron	NM_018429	NP_060899			transcription factor-like nuclear regulator						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72146953	72146953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72146953delA	uc003kck.3	+						TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Intron|TNPO1_uc003kch.2_Intron|TNPO1_uc003kci.3_Intron|TNPO1_uc003kcg.3_Intron	NM_002270	NP_002261			transportin 1 isoform 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76745819	76745819	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76745819delA	uc003kff.1	-						WDR41_uc011csy.1_Intron|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Intron|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738			WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)														---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78351761	78351761	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78351761delA	uc003kfs.2	-						DMGDH_uc011cte.1_5'Flank|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523			dimethylglycine dehydrogenase precursor						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78378959	78378959	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78378959delA	uc003kft.2	+						BHMT2_uc011cth.1_Intron	NM_017614	NP_060084			betaine-homocysteine methyltransferase 2						methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86644899	86644900	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86644899_86644900delAA	uc003kiw.2	+						RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron	NM_002890	NP_002881			RAS p21 protein activator 1 isoform 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
LOC645323	645323	broad.mit.edu	37	5	87898998	87898998	+	Intron	DEL	A	-	-	rs11959094		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87898998delA	uc011cua.1	-							NR_015436				Homo sapiens cDNA FLJ34037 fis, clone FCBBF2005439.												0																		---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89933862	89933863	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89933862_89933863delAA	uc003kju.2	+						GPR98_uc003kjt.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90671548	90671548	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90671548delT	uc003kjz.2	-							NM_020801	NP_065852			arrestin domain containing 3						signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)														---	---	---	---
RFESD	317671	broad.mit.edu	37	5	94991635	94991635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94991635delA	uc003klf.2	+						RFESD_uc003klg.2_Intron|RFESD_uc011cun.1_Intron|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498			Rieske (Fe-S) domain containing isoform 2								2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)														---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96349292	96349292	+	Intron	DEL	T	-	-	rs74970606		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96349292delT	uc003kmv.1	+						LNPEP_uc003kmw.1_Intron	NM_005575	NP_005566			leucyl/cystinyl aminopeptidase isoform 1						cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	96392026	96392026	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96392026delA								LNPEP (26911 upstream) : LIX1 (35549 downstream)																																			---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101755728delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101793966	101793966	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101793966delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
APC	324	broad.mit.edu	37	5	112154530	112154531	+	Intron	DEL	TG	-	-	rs141013063	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112154530_112154531delTG	uc010jby.2	+						APC_uc011cvt.1_Intron|APC_uc003kpz.3_Intron|APC_uc003kpy.3_Intron|APC_uc010jbz.2_Intron	NM_001127511	NP_001120983			adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112328522	112328522	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112328522delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112343574	112343574	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112343574delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122163031	122163031	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122163031delT	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122748350	122748350	+	Intron	DEL	T	-	-	rs66479829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122748350delT	uc003ktk.2	-						CEP120_uc011cwq.1_Intron|CEP120_uc010jcz.1_Intron	NM_153223	NP_694955			coiled-coil domain containing 100							centrosome				ovary(1)	1																		---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125885822	125885822	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125885822delT	uc003ktx.2	-						ALDH7A1_uc003ktv.2_Intron|ALDH7A1_uc003kty.2_Intron|ALDH7A1_uc011cxa.1_Intron	NM_001182	NP_001173			aldehyde dehydrogenase 7 family, member A1						cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	5	126506009	126506009	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126506009delT								FLJ44606 (96837 upstream) : MEGF10 (120447 downstream)																																			---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128932244	128932244	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128932244delT	uc003kvb.1	+						ADAMTS19_uc010jdh.1_5'Flank	NM_133638	NP_598377			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132069870	132069870	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132069870delT	uc003kxo.2	-						KIF3A_uc003kxn.2_Intron|KIF3A_uc011cxf.1_Intron|KIF3A_uc003kxp.2_Intron	NM_007054	NP_008985			kinesin family member 3A						blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132159772	132159773	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132159772_132159773insC	uc003kxx.2	-	7	2385_2386	c.1580_1581insG	c.(1579-1581)GGCfs	p.G527fs	SHROOM1_uc003kxy.1_Frame_Shift_Ins_p.G527fs	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	527					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
UBE2B	7320	broad.mit.edu	37	5	133726150	133726150	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133726150delA	uc003kzh.2	+	6						NM_003337	NP_003328			ubiquitin-conjugating enzyme E2B						canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137763437	137763437	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137763437delT	uc003lcy.1	+						KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688			jumonji domain containing 1B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138764375delA	uc003len.2	-						DNAJC18_uc010jff.2_Intron	NM_152686	NP_689899			DnaJ (Hsp40) homolog, subfamily C, member 18						protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
PRELID2	153768	broad.mit.edu	37	5	145199605	145199605	+	Intron	DEL	A	-	-	rs11309176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145199605delA	uc003lnp.1	-						PRELID2_uc003lnq.1_Intron|PRELID2_uc003lno.1_Intron|PRELID2_uc003lnr.1_Intron	NM_182960	NP_892005			PRELI domain containing 2 isoform a												0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	149227268	149227269	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149227268_149227269delAA								PPARGC1B (1 upstream) : PDE6A (10251 downstream)																																			---	---	---	---
CD74	972	broad.mit.edu	37	5	149792481	149792481	+	5'Flank	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149792481delG	uc003lsc.2	-						CD74_uc003lse.2_5'Flank|CD74_uc003lsd.2_5'Flank|CD74_uc003lsf.1_5'Flank	NM_001025159	NP_001020330			CD74 antigen isoform a						antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)					T	ROS1	NSCLC								---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150102363	150102364	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150102363_150102364delTT	uc003lsv.2	-						DCTN4_uc003lsu.2_Intron|DCTN4_uc010jhi.2_Intron	NM_016221	NP_057305			dynactin 4 (p62) isoform b							centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154135745	154135745	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160886864	160886864	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160886864delA	uc003lys.1	-						GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Intron	NM_021911	NP_068711			gamma-aminobutyric acid (GABA) A receptor, beta						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167379581	167379581	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167379581delT	uc010jjd.2	+						ODZ2_uc003lzq.2_Intron|ODZ2_uc003lzr.3_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179689017	179689017	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179689017delA	uc003mls.3	-						MAPK9_uc003mlt.3_Intron|MAPK9_uc010jlc.2_Intron|MAPK9_uc003mlv.3_Intron|MAPK9_uc011dgx.1_Intron	NM_002752	NP_002743			mitogen-activated protein kinase 9 isoform JNK2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
Unknown	0	broad.mit.edu	37	6	5067160	5067161	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5067160_5067161insC	uc003mwn.1	+											Homo sapiens cDNA FLJ37615 fis, clone BRCOC2011996.																														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7566746	7566746	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7566746delA	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7578647	7578647	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7578647delT	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7582771	7582771	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7582771delT	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13584591	13584591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13584591delT	uc003nay.2	+						SIRT5_uc003naw.2_Intron|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Intron	NM_012241	NP_036373			sirtuin 5 isoform 1						chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
TPMT	7172	broad.mit.edu	37	6	18134020	18134021	+	Intron	DEL	AC	-	-	rs68138647		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18134020_18134021delAC	uc003ncm.2	-						TPMT_uc010jpm.1_Frame_Shift_Del_p.G198fs	NM_000367	NP_000358			thiopurine S-methyltransferase						xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)													---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24567112	24567112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24567112delT	uc011djo.1	-						KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Intron|KIAA0319_uc011djq.1_Intron|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Intron	NM_014809	NP_055624			KIAA0319 precursor						negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29580837	29580837	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29580837delT	uc003nmt.3	-						GABBR1_uc003nmp.3_Intron|GABBR1_uc003nms.3_Intron|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Intron|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461			gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576436	30576436	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30576436delT	uc003nqn.1	-						PPP1R10_uc010jsc.1_Intron	NM_002714	NP_002705			protein phosphatase 1, regulatory subunit 10						protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30621048	30621048	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30621048delT	uc003nqz.2	-	20	3309	c.3097delA	c.(3097-3099)ATAfs	p.I1033fs	DHX16_uc003nqy.2_Frame_Shift_Del_p.I552fs|DHX16_uc011dmo.1_Frame_Shift_Del_p.I973fs	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1033					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	30665317	30665318	+	IGR	DEL	TT	-	-	rs137943555		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30665317_30665318delTT								NRM (6259 upstream) : MDC1 (2267 downstream)																																			---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31708750	31708750	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31708750delA	uc003nwv.1	+						MSH5_uc003nwt.1_Intron|MSH5_uc003nwu.1_Intron|MSH5_uc003nww.1_Intron|MSH5_uc003nwx.1_Intron	NM_172166	NP_751898			mutS homolog 5 isoform c						chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35216592	35216592	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35216592delA	uc003okf.1	+	22					SCUBE3_uc003okg.1_3'UTR|SCUBE3_uc003okh.1_3'UTR	NM_152753	NP_689966			signal peptide, CUB domain, EGF-like 3						protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38750770	38750770	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38750770delA	uc003ooe.1	+							NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371468	44371468	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371468delT	uc003oxl.2	+							NM_001253	NP_001244			CDC5-like						cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46518263	46518263	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46518263delA	uc003oyf.1	-						CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677			cytochrome P450, family 39, subfamily A,						bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1																		---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46836932	46836932	+	Intron	DEL	A	-	-	rs75249218		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46836932delA	uc003oyo.3	-						GPR116_uc011dwj.1_5'UTR|GPR116_uc011dwk.1_Intron|GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Intron|GPR116_uc010jzi.1_Intron	NM_001098518	NP_001091988			G-protein coupled receptor 116 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51887448	51887449	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51887448_51887449insT	uc003pah.1	-						PKHD1_uc003pai.2_Intron	NM_138694	NP_619639			fibrocystin isoform 1						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52288681	52288681	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52288681delT	uc003pap.3	+						EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Intron	NM_018100	NP_060570			EF-hand domain (C-terminal) containing 1							axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55381522	55381523	+	Intron	INS	-	A	A	rs141179453	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55381522_55381523insA	uc003pcn.2	-						HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909			3-hydroxymethyl-3-methylglutaryl-Coenzyme A								hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---
DST	667	broad.mit.edu	37	6	56376047	56376049	+	In_Frame_Del	DEL	TCT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56376047_56376049delTCT	uc003pdf.2	-	67	12397_12399	c.12369_12371delAGA	c.(12367-12372)GAAGAT>GAT	p.E4123del	DST_uc003pcz.3_In_Frame_Del_p.E3945del|DST_uc011dxj.1_In_Frame_Del_p.E3974del|DST_uc011dxk.1_In_Frame_Del_p.E3985del|DST_uc003pcy.3_In_Frame_Del_p.E3619del	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6031	Spectrin 11.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64289336	64289336	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64289336delT	uc003pek.2	+						PTP4A1_uc003pel.2_Intron	NM_003463	NP_003454			protein tyrosine phosphatase type IVA, member 1						cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70648035	70648036	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70648035_70648036insA	uc003pfc.1	+						COL19A1_uc010kam.1_Intron	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71562148	71562148	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71562148delT	uc003pfr.2	+						SMAP1_uc003pfs.2_Intron|SMAP1_uc010kao.2_Intron|SMAP1_uc010kap.2_Intron	NM_001044305	NP_001037770			stromal membrane-associated GTPase-activating						regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73835182	73835182	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73835182delT	uc003pgk.2	+						KCNQ5_uc011dyh.1_Intron|KCNQ5_uc011dyi.1_Intron|KCNQ5_uc010kat.2_Intron|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816			potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75798722	75798722	+	Intron	DEL	C	-	-	rs672648		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75798722delC	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83841885	83841885	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83841885delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83861593	83861593	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83861593delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83869790	83869790	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83869790delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
RNGTT	8732	broad.mit.edu	37	6	89563641	89563642	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89563641_89563642delTT	uc003pmr.2	-						RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron	NM_003800	NP_003791			RNA guanylyltransferase and 5'-phosphatase						interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)														---	---	---	---
LYRM2	57226	broad.mit.edu	37	6	90347730	90347730	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90347730delT	uc003pnm.2	-						LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|LYRM2_uc010kcf.1_Intron|LYRM2_uc010kcg.2_Intron|LYRM2_uc003pnl.3_Intron	NM_020466	NP_065199			LYR motif containing 2												0		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90529029	90529030	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90529029_90529030delAA	uc003pnn.1	-						MDN1_uc003pnp.1_Intron	NM_014611	NP_055426			MDN1, midasin homolog						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CCNC	892	broad.mit.edu	37	6	100006215	100006215	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100006215delT	uc003pqe.2	-						uc003pqc.2_Intron|CCNC_uc003pqd.2_Intron|CCNC_uc010kcr.2_Intron|CCNC_uc010kcs.2_Intron|CCNC_uc011eah.1_Intron|CCNC_uc003pqf.2_3'UTR	NM_005190	NP_005181			cyclin C isoform a						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101215315	101215315	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101215315delA	uc003pqk.2	-						ASCC3_uc011eai.1_Intron|ASCC3_uc003pql.2_Intron	NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102133965	102133965	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102133965delA	uc003pqp.3	+						GRIK2_uc003pqn.2_Intron|GRIK2_uc003pqo.3_Intron|GRIK2_uc010kcw.2_Intron	NM_021956	NP_068775			glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)													---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105244435	105244436	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105244435_105244436insA	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107595537	107595537	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107595537delT	uc003prt.2	-						PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.2_Intron|PDSS2_uc003prv.2_Intron	NM_020381	NP_065114			prenyl diphosphate synthase, subunit 2						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108197684	108197684	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108197684delT	uc003psc.3	-						SEC63_uc003psb.3_Intron	NM_007214	NP_009145			SEC63-like protein						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109769301	109769302	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109769301_109769302delAC	uc003ptj.2	-						MICAL1_uc003ptk.2_Intron|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Intron	NM_022765	NP_073602			microtubule associated monoxygenase, calponin						cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	113545198	113545199	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:113545198_113545199insT								RFPL4B (872700 upstream) : MARCKS (633328 downstream)																																			---	---	---	---
RSPH4A	345895	broad.mit.edu	37	6	116951817	116951817	+	Intron	DEL	T	-	-	rs784134		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116951817delT	uc003pxe.2	+						RSPH4A_uc010kee.2_Intron	NM_001010892	NP_001010892			radial spoke head 4 homolog A isoform 1						cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0														Kartagener_syndrome				---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237595	117237595	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237595delT	uc003pxm.2	+							NM_173560	NP_775831			regulatory factor X, 6						glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118598580	118598580	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118598580delG	uc003pxx.3	+						SLC35F1_uc003pxy.1_Intron	NM_001029858	NP_001025029			solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119301222	119301222	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119301222delA	uc003pyj.2	-						FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron	NM_024581	NP_078857			hypothetical protein LOC79632 isoform 1											ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	121730064	121730064	+	IGR	DEL	T	-	-	rs74363630		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121730064delT								C6orf170 (74420 upstream) : GJA1 (26681 downstream)																																			---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332047	123332047	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332047delT	uc003pzi.1	+							NM_001010852	NP_001010852			retinaldehyde binding protein 1-like 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123637480	123637480	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123637480delT	uc003pzj.1	-						TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123702474	123702474	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123702474delA	uc003pzj.1	-						TRDN_uc003pzk.1_Intron|TRDN_uc003pzl.1_Intron|TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127804264	127804264	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127804264delA	uc003qbd.2	-							NM_001012279	NP_001012279			hypothetical protein LOC387104 precursor							integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149813468	149813471	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149813468_149813471delTTTT	uc010kic.2	-							NM_139126				peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149856013	149856014	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149856013_149856014delAA	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151336482	151336482	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151336482delT	uc003qob.2	+						MTHFD1L_uc011een.1_Intron|MTHFD1L_uc011eeo.1_Intron|MTHFD1L_uc003qoc.2_Intron	NM_015440	NP_056255			methylenetetrahydrofolate dehydrogenase (NADP+						folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152578100	152578101	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152578100_152578101delTT	uc010kiw.2	-						SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599580	152599580	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599580delT	uc010kiw.2	-						SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
Unknown	0	broad.mit.edu	37	6	154037518	154037518	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154037518delT								RGS17 (585129 upstream) : OPRM1 (294118 downstream)																																			---	---	---	---
FGFR1OP	11116	broad.mit.edu	37	6	167447338	167447338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167447338delT	uc003qvj.2	+						CCR6_uc003qvl.2_Intron|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.2_Intron	NM_007045	NP_008976			FGFR1 oncogene partner isoform a						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(1)	1		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)				T	FGFR1	MPD|NHL								---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170181412	170181412	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170181412delT	uc003qxg.1	+						C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Intron	NM_018341	NP_060811			hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
RSPH10B2	728194	broad.mit.edu	37	7	6006678	6006679	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6006678_6006679insAG	uc003sph.1	-	3	340_341	c.69_70insCT	c.(67-72)TCTGATfs	p.S23fs	RSPH10B2_uc010ktd.1_Frame_Shift_Ins_p.S23fs	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	23_24										ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6781234	6781234	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6781234delT	uc003squ.2	+						PMS2CL_uc003sqv.1_Intron					Homo sapiens PMS2CL mRNA for PMS2-C terminal -like, complete cds.												0																		---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476158	7476158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476158delA	uc003src.1	-						COL28A1_uc011jxe.1_Intron|COL28A1_uc003srd.2_Intron|COL28A1_uc003sre.1_Intron	NM_001037763	NP_001032852			collagen, type XXVIII precursor						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8198251delT	uc003srm.2	-	7	678	c.611delA	c.(610-612)AACfs	p.N204fs	ICA1_uc010ktr.2_Frame_Shift_Del_p.N204fs|ICA1_uc003srl.2_Frame_Shift_Del_p.N192fs|ICA1_uc003srn.3_Frame_Shift_Del_p.N130fs|ICA1_uc003srp.3_Frame_Shift_Del_p.N203fs|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Frame_Shift_Del_p.N204fs|ICA1_uc003srr.2_Frame_Shift_Del_p.N203fs|ICA1_uc003sro.3_Frame_Shift_Del_p.N204fs|ICA1_uc011jxg.1_Frame_Shift_Del_p.N204fs|ICA1_uc003srs.1_Frame_Shift_Del_p.N204fs	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	204	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18988799	18988800	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18988799_18988800insT	uc003suh.2	+						HDAC9_uc003sue.2_Intron|HDAC9_uc003sui.2_Intron|HDAC9_uc003suj.2_Intron|HDAC9_uc003suk.2_Intron	NM_058176	NP_478056			histone deacetylase 9 isoform 1						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21743993	21743993	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21743993delT	uc003svc.2	+							NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
CBX3	11335	broad.mit.edu	37	7	26251418	26251418	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26251418delT	uc003sxt.2	+						CBX3_uc003sxu.2_Intron|CBX3_uc003sxv.2_Intron	NM_007276	NP_009207			chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			ovary(1)	1																		---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27142248	27142248	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27142248delT	uc003syh.2	-	1						NM_006735	NP_006726			homeobox A2							nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	29760221	29760221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29760221delT	uc003tai.2	+											Homo sapiens DPY-19-like 2 pseudogene 3 (DPY19L2P3) pseudogene mRNA, complete sequence.																														---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32678981	32678981	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32678981delA	uc011kai.1	+						uc003tcw.2_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
AVL9	23080	broad.mit.edu	37	7	33055170	33055170	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33055170delA	uc011kai.1	+						NT5C3_uc003tdi.2_Intron|NT5C3_uc003tdj.2_Intron|NT5C3_uc003tdk.2_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36466411	36466411	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36466411delT	uc003tff.2	+						ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	NM_018685	NP_061155			anillin, actin binding protein						cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3																		---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39247285	39247285	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39247285delA	uc003thb.1	+						POU6F2_uc010kxo.2_Intron	NM_007252	NP_009183			POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45003923	45003924	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45003923_45003924insC	uc003tmh.2	-						MYO1G_uc003tmf.2_Intron|MYO1G_uc003tmg.2_Intron|MYO1G_uc010kym.2_Intron	NM_033054	NP_149043			myosin IG							myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48045524	48045524	+	Intron	DEL	T	-	-	rs80067951		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48045524delT	uc003tof.2	-						SUN3_uc010kyq.2_Intron|SUN3_uc003tog.2_Intron|SUN3_uc011kcf.1_Intron	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314550	48314550	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48314550delA	uc003toq.2	+	17	5312	c.5287delA	c.(5287-5289)AAAfs	p.K1763fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.K1266fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1763					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ZNF735	730291	broad.mit.edu	37	7	63674370	63674370	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63674370delT	uc011kdn.1	+							NM_001159524	NP_001152996			zinc finger protein 735						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	65222951	65222951	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65222951delT	uc003tud.1	-						CCT6P1_uc003tug.2_Intron|CCT6P1_uc003tuh.2_Intron|CCT6P1_uc003tui.2_Intron|uc003tuk.1_5'Flank					Homo sapiens hypothetical LOC441242, mRNA (cDNA clone MGC:87648 IMAGE:5267764), complete cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	66347893	66347893	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66347893delA								LOC729156 (38080 upstream) : C7orf42 (38310 downstream)																																			---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73601779	73601779	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73601779delT	uc003uad.1	+						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron	NM_022170	NP_071496			eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77807188	77807188	+	Intron	DEL	A	-	-	rs113984102		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77807188delA	uc003ugx.2	-						MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron	NM_012301	NP_036433			membrane associated guanylate kinase, WW and PDZ							cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83591153	83591153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83591153delA	uc003uhz.2	-							NM_006080	NP_006071			semaphorin 3A precursor						axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)																	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87778219	87778220	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87778219_87778220insT	uc003ujn.2	+						ADAM22_uc003ujk.1_Intron|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Intron	NM_021723	NP_068369			ADAM metallopeptidase domain 22 isoform 1						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847728	88847728	+	Intron	DEL	T	-	-	rs78003398		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847728delT	uc011khi.1	+							NM_181646	NP_857597			zinc finger protein 804B							intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
C7orf63	79846	broad.mit.edu	37	7	89912076	89912077	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89912076_89912077insA	uc010lep.2	+						C7orf63_uc003ukf.2_Intron|C7orf63_uc003ukg.2_Intron|C7orf63_uc011khj.1_Intron|C7orf63_uc011khk.1_Intron	NM_001039706	NP_001034795			hypothetical protein LOC79846 isoform 1								binding			ovary(1)	1																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90376819	90376819	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90376819delT	uc003uky.2	+						CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Intron|CDK14_uc010les.1_Intron|CDK14_uc011khl.1_Intron	NM_012395	NP_036527			PFTAIRE protein kinase 1						cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752766	91752766	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91752766delT	uc003ulm.3	-						CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron	NM_000786	NP_000777			cytochrome P450, family 51, subfamily A,						cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)													---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92000724	92000724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92000724delT	uc003ulw.2	+						ANKIB1_uc010lew.1_5'Flank	NM_019004	NP_061877			ankyrin repeat and IBR domain containing 1								protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92403884	92403884	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92403884delT	uc011khw.1	-						CDK6_uc010lez.2_Intron	NM_001259	NP_001250			cyclin-dependent kinase 6						cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
TMEM130	222865	broad.mit.edu	37	7	98446426	98446426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98446426delT	uc003upo.2	-						TMEM130_uc011kiq.1_Intron|TMEM130_uc011kir.1_Intron|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922			transmembrane protein 130 isoform a							Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98546413	98546413	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98546413delT	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98563215	98563215	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98563215delG	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	98994127	98994128	+	3'UTR	DEL	CC	-	-	rs113663373		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98994127_98994128delCC	uc003uqe.2	-	6						NM_014891	NP_055706			PDGFA associated protein 1						cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99621024	99621024	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99621024delT	uc003usk.1	+						ZKSCAN1_uc003usj.2_Intron|ZKSCAN1_uc003usl.1_Intron|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430			zinc finger protein 36						viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99943553delT	uc003uuk.2	+	4					PILRB_uc003uul.2_5'UTR	NM_013440	NP_038468			paired immunoglobulin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
SPDYE2	441273	broad.mit.edu	37	7	102197784	102197784	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102197784delT	uc011kkx.1	+						UPK3BL_uc003uzy.2_Intron|POLR2J3_uc003uzw.2_Intron|POLR2J3_uc011kkw.1_Intron|SPDYE2_uc003vaa.1_Intron	NM_001031618	NP_001026789			speedy homolog E2												0																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107414307	107414307	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107414307delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107419989	107419989	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107419989delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121597015	121597015	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121597015delA	uc003vjy.2	+						PTPRZ1_uc003vjz.2_Intron	NM_002851	NP_002842			protein tyrosine phosphatase, receptor-type,						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753834	121753834	+	Intron	DEL	A	-	-	rs36059311		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121753834delA	uc003vka.2	-						AASS_uc011knu.1_Intron|AASS_uc011knv.1_Intron|AASS_uc003vkb.2_Intron|AASS_uc011knw.1_Intron	NM_005763	NP_005754			aminoadipate-semialdehyde synthase precursor						protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122316893	122316893	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122316893delT	uc010lkp.2	-						CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424			Ca2+-dependent activator protein for secretion 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
WASL	8976	broad.mit.edu	37	7	123335069	123335069	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123335069delA	uc003vkz.2	-							NM_003941	NP_003932			Wiskott-Aldrich syndrome gene-like protein						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0																		---	---	---	---
C7orf45	136263	broad.mit.edu	37	7	129856477	129856477	+	3'UTR	DEL	A	-	-	rs72394033		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129856477delA	uc003vpp.2	+	3						NM_145268	NP_660311			hypothetical protein LOC136263							integral to membrane					0	Melanoma(18;0.0435)																	---	---	---	---
Unknown	0	broad.mit.edu	37	7	131578776	131578776	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131578776delC								PODXL (337400 upstream) : PLXNA4 (229316 downstream)																																			---	---	---	---
BRAF	673	broad.mit.edu	37	7	140476994	140476994	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140476994delT	uc003vwc.3	-							NM_004333	NP_004324			B-Raf						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	7	148751396	148751396	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148751396delA								PDIA4 (25614 upstream) : ZNF786 (15337 downstream)																																			---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149489374	149489374	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149489374delG	uc010lpk.2	+							NM_198455	NP_940857			SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150923194	150923195	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150923194_150923195delTG	uc003wjp.2	-						ABCF2_uc003wjo.1_Intron	NM_007189	NP_009120			ATP-binding cassette, sub-family F, member 2							ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154172013	154172013	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154172013delT	uc003wlk.2	+						DPP6_uc003wli.2_Intron|DPP6_uc003wlj.2_Intron|DPP6_uc010lqh.1_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron	NM_130797	NP_570629			dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155473256	155473256	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155473256delT	uc010lqk.1	+						RBM33_uc003wme.2_Intron	NM_053043	NP_444271			RNA binding motif protein 33								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155556609	155556609	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155556609delG	uc010lqk.1	+	15	3451	c.3083delG	c.(3082-3084)AGGfs	p.R1028fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.R838fs|RBM33_uc003wmg.2_5'UTR	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1028							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2065595	2065596	+	Intron	DEL	TA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2065595_2065596delTA	uc003wpx.3	+						MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961			myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
LOC349196	349196	broad.mit.edu	37	8	7196263	7196264	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:7196263_7196264delAC	uc010lrk.1	-						uc011kwo.1_Intron					Homo sapiens cDNA FLJ37516 fis, clone BRCAN2000832.												0																		---	---	---	---
FLJ10661	286042	broad.mit.edu	37	8	8098084	8098084	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8098084delA	uc003wsf.3	+							NR_024361				Homo sapiens cDNA FLJ60033 complete cds, highly similar to Protein FAM86A.												0																		---	---	---	---
DEFB134	613211	broad.mit.edu	37	8	11853468	11853468	+	Intron	DEL	A	-	-	rs77552285		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11853468delA	uc011kxn.1	-							NM_001033019	NP_001028191			beta-defensin 134 precursor						defense response to bacterium	extracellular region					0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)														---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14167359	14167359	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14167359delT	uc003wwq.2	-						SGCZ_uc010lss.2_Intron	NM_139167	NP_631906			sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16974262	16974262	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16974262delA	uc003wxd.2	+							NM_181723	NP_859074			EF-hand domain family, member A2							integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
ZDHHC2	51201	broad.mit.edu	37	8	17067785	17067785	+	Intron	DEL	T	-	-	rs4922272		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17067785delT	uc003wxe.2	+							NM_016353	NP_057437			zinc finger, DHHC-type containing 2							integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17826953	17826953	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17826953delT	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_5'Flank|PCM1_uc011kyj.1_5'Flank|PCM1_uc003wyk.3_5'Flank	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17882706	17882707	+	Intron	INS	-	A	A	rs146647405	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17882706_17882707insA	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Intron|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_Intron	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21846489	21846489	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21846489delT	uc003xaa.3	+						XPO7_uc010lti.2_Intron|XPO7_uc010ltk.2_Intron	NM_015024	NP_055839			exportin 7 isoform b						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)														---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25287255	25287255	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25287255delT	uc003xeo.2	-	12					PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104			potassium channel tetramerisation domain							voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26149253	26149253	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26149253delC	uc003xeu.2	+	1					PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_5'Flank	NM_002717	NP_002708			alpha isoform of regulatory subunit B55, protein						protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27348831	27348831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27348831delG	uc003xfu.2	+						EPHX2_uc010lut.1_Intron|EPHX2_uc010luu.2_Intron|EPHX2_uc010luv.2_Intron|EPHX2_uc003xfv.2_Intron|EPHX2_uc010luw.2_Intron	NM_001979	NP_001970			epoxide hydrolase 2, cytoplasmic						aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
C8orf41	80185	broad.mit.edu	37	8	33367554	33367554	+	Intron	DEL	A	-	-	rs79956819		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33367554delA	uc003xjl.3	-						C8orf41_uc003xjk.3_Intron|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Intron|C8orf41_uc003xjn.1_Intron	NM_025115	NP_079391			hypothetical protein LOC80185								binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38875022	38875022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38875022delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880562	38880562	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38880562delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39694901	39694901	+	Intron	DEL	T	-	-	rs71692514		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39694901delT	uc003xnj.2	-						ADAM2_uc003xnk.2_Intron|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455			ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---
MYST3	7994	broad.mit.edu	37	8	41801617	41801617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41801617delA	uc010lxb.2	-						MYST3_uc010lxc.2_Intron|MYST3_uc003xon.3_Intron|MYST3_uc010lxd.2_Intron	NM_001099412	NP_001092882			MYST histone acetyltransferase (monocytic						histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)															---	---	---	---
POLB	5423	broad.mit.edu	37	8	42199220	42199220	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42199220delT	uc003xoz.1	+						POLB_uc003xpa.1_Intron|POLB_uc011lcs.1_Intron	NM_002690	NP_002681			DNA-directed DNA polymerase beta						DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)|breast(1)	2	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)								DNA_polymerases_(catalytic_subunits)					---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42552905	42552905	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42552905delG	uc003xpi.1	+							NM_000749	NP_000740			cholinergic receptor, nicotinic, beta						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48586205	48586205	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48586205delT	uc003xqd.2	+						KIAA0146_uc011ldb.1_Intron|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Intron|KIAA0146_uc011ldd.1_Intron|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_Intron|KIAA0146_uc011lde.1_Intron|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Intron|KIAA0146_uc011ldg.1_5'UTR|KIAA0146_uc010lxv.1_Intron	NM_001080394	NP_001073863			hypothetical protein LOC23514												0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48812834	48812834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48812834delA	uc003xqi.2	-						PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835			protein kinase, DNA-activated, catalytic						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51351027	51351028	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51351027_51351028insA	uc010lxy.1	+						SNTG1_uc003xqs.1_Intron|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_Intron	NM_018967	NP_061840			syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59477817	59477817	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59477817delT	uc003xtn.2	+						SDCBP_uc003xto.2_Intron|SDCBP_uc003xtr.2_Intron|SDCBP_uc003xtp.2_Intron|SDCBP_uc003xtq.2_Intron|SDCBP_uc003xts.2_Intron|SDCBP_uc011led.1_Intron	NM_005625	NP_005616			syntenin isoform 1						actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61714076	61714076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61714076delT	uc003xue.2	+							NM_017780	NP_060250			chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66657849	66657850	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66657849_66657850insT	uc003xvq.2	-						PDE7A_uc003xvr.2_Intron|PDE7A_uc003xvp.2_Intron	NM_002604	NP_002595			phosphodiesterase 7A isoform b							cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68044403	68044403	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68044403delA	uc003xxi.2	+						CSPP1_uc003xxg.1_Intron|CSPP1_uc003xxh.1_Intron|CSPP1_uc003xxj.2_Intron|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672			centrosome spindle pole associated protein 1							centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	68319249	68319249	+	IGR	DEL	A	-	-	rs75255829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68319249delA								ARFGEF1 (63337 upstream) : CPA6 (15157 downstream)																																			---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71037164	71037164	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71037164delG	uc003xyn.1	-						NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531			nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646015	71646015	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71646015delT	uc003xyq.2	+						XKR9_uc010lze.2_Intron|XKR9_uc010lzd.2_Intron	NM_001011720	NP_001011720			XK, Kell blood group complex subunit-related							integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)															---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72969255	72969255	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72969255delA	uc003xza.2	-							NM_007332	NP_015628			ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75937752	75937753	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75937752_75937753delAT	uc003yan.2	+						CRISPLD1_uc011lfk.1_Intron|CRISPLD1_uc011lfl.1_Intron	NM_031461	NP_113649			cysteine-rich secretory protein LCCL domain							extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76463542	76463542	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76463542delA	uc003yaq.2	+						HNF4G_uc003yar.2_Intron	NM_004133	NP_004124			hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	81213788	81213788	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81213788delC								TPD52 (129952 upstream) : ZBTB10 (184066 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	81472059	81472059	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81472059delA								ZBTB10 (37451 upstream) : ZNF704 (78710 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	82530375	82530375	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82530375delT								FABP12 (86825 upstream) : IMPA1 (38776 downstream)																																			---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90936586	90936587	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90936586_90936587delTT	uc003yeg.2	+						OSGIN2_uc003yeh.2_Intron	NM_004337	NP_004328			oxidative stress induced growth inhibitor family						germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)															---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91056917	91056917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91056917delT	uc003yek.1	+						DECR1_uc011lgc.1_Intron|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350			2,4-dienoyl CoA reductase 1 precursor						fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
TMEM64	169200	broad.mit.edu	37	8	91637754	91637755	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91637754_91637755delAA	uc003yen.2	-	3					TMEM64_uc003yeo.2_3'UTR|TMEM64_uc011lgf.1_3'UTR	NM_001008495	NP_001008495			transmembrane protein 64 isoform 1							integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)															---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92097184	92097184	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92097184delA	uc003yeu.3	+	7					OTUD6B_uc011lgh.1_3'UTR	NM_016023	NP_057107			OTU domain containing 6B											ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	94969529	94969529	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94969529delT								PDP1 (31235 upstream) : CDH17 (169865 downstream)																																			---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95541687	95541687	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95541687delA	uc003ygo.1	-						KIAA1429_uc003ygp.2_Intron|KIAA1429_uc010maz.1_5'Flank	NM_015496	NP_056311			hypothetical protein LOC25962 isoform 1						mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95768113	95768113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95768113delA	uc003ygx.2	+							NM_181787	NP_861452			dpy-19-like 4							integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95905205	95905205	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95905205delA	uc003yhc.2	-						C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Intron	NM_057749	NP_477097			cyclin E2						cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)																	---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99264978	99264978	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99264978delT	uc003yil.1	-						NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Intron	NM_024759	NP_079035			NIPA-like domain containing 2							integral to membrane					0																		---	---	---	---
POLR2K	5440	broad.mit.edu	37	8	101164033	101164033	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101164033delT	uc003yjf.2	+							NM_005034	NP_005025			DNA directed RNA polymerase II polypeptide K						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103665676	103665676	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103665676delA	uc011lhk.1	-						KLF10_uc011lhj.1_Intron	NM_005655	NP_005646			Kruppel-like factor 10 isoform a						cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105511791	105511791	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105511791delA	uc003yma.2	-						LRP12_uc003ymb.2_Intron	NM_013437	NP_038465			low density lipoprotein-related protein 12						endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113702411	113702412	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113702411_113702412delTT	uc003ynu.2	-						CSMD3_uc003yns.2_5'Flank|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121327882	121327882	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121327882delA	uc003yox.2	+						COL14A1_uc003yoz.2_Intron	NM_021110	NP_066933			collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122640781	122640781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122640781delT	uc003yph.2	-							NM_005328	NP_005319			hyaluronan synthase 2							integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368511	124368511	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124368511delA	uc003yqh.3	-						ATAD2_uc011lii.1_Intron|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Intron	NM_014109	NP_054828			ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125025569	125025569	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125025569delA	uc003yqw.2	+						uc003yqx.1_Intron	NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130874724	130874724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130874724delT	uc003yss.2	-						FAM49B_uc003yst.2_Intron|FAM49B_uc003ysu.2_Intron|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Intron|FAM49B_uc003ysx.2_Intron|FAM49B_uc003ysy.1_Intron	NM_016623	NP_057707			hypothetical protein LOC51571												0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141810338	141810338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141810338delT	uc003yvu.2	-						PTK2_uc011ljq.1_Intron|PTK2_uc003yvp.2_Intron|PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145003563	145003563	+	Intron	DEL	G	-	-	rs140068101		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145003563delG	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145625525	145625533	+	Intron	DEL	CCCCCCCCC	-	-	rs145341443		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145625525_145625533delCCCCCCCCC	uc003zcj.2	-						CPSF1_uc003zck.1_In_Frame_Del_p.GGG244del|CPSF1_uc011lle.1_Intron|MIR1234_hsa-mir-1234|MI0006324_RNA	NM_013291	NP_037423			cleavage and polyadenylation specific factor 1,						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300456	5300456	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5300456delA	uc003zja.1	-						RLN2_uc003ziz.1_Intron	NM_134441	NP_604390			relaxin 2 isoform 1 preproprotein						female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7128278	7128278	+	Intron	DEL	A	-	-	rs73403349	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7128278delA	uc003zkh.2	+						KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Intron|KDM4C_uc011lmk.1_Intron|KDM4C_uc011lml.1_Intron	NM_015061	NP_055876			jumonji domain containing 2C isoform 1						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8340946	8340946	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8340946delA	uc003zkk.2	-						PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16775804	16775804	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16775804delT	uc003zml.2	-						BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Intron|BNC2_uc003zmr.1_Intron|BNC2_uc003zmp.1_Intron|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Intron|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107			basonuclin 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19370000	19370000	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19370000delT	uc003znq.2	+						DENND4C_uc011lnc.1_Intron|DENND4C_uc011lnd.1_Intron|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_Intron	NM_017925	NP_060395			DENN/MADD domain containing 4C							integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22451039	22451039	+	Intron	DEL	T	-	-	rs41270141	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:22451039delT	uc003zpp.1	+							NM_022160	NP_071443			DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)														---	---	---	---
IFT74	80173	broad.mit.edu	37	9	27060506	27060506	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27060506delT	uc010mja.2	+						IFT74_uc010mjb.2_Intron|IFT74_uc003zqg.3_Intron	NM_001099223	NP_001092693			coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32405448	32405448	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32405448delA	uc003zqw.3	+						ACO1_uc010mjh.1_Intron|ACO1_uc003zqx.3_Intron|ACO1_uc003zqy.3_Intron	NM_002197	NP_002188			aconitase 1						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32493953	32493953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32493953delA	uc003zra.2	-						DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Intron	NM_014314	NP_055129			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide						detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)														---	---	---	---
DNAJA1	3301	broad.mit.edu	37	9	33034392	33034393	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33034392_33034393insT	uc003zsd.1	+						DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Intron	NM_001539	NP_001530			DnaJ (Hsp40) homolog, subfamily A, member 1						protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)														---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35721531	35721531	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35721531delT	uc003zxt.2	-							NM_006289	NP_006280			talin 1						axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353341	36353342	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36353341_36353342delAA	uc003zzh.2	-						RNF38_uc003zzi.2_Intron|RNF38_uc003zzj.2_Intron|RNF38_uc003zzk.2_Intron|RNF38_uc003zzl.2_Intron|RNF38_uc003zzm.2_Intron	NM_022781	NP_073618			ring finger protein 38 isoform 1								zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
ANKRD20A4	728747	broad.mit.edu	37	9	69391298	69391299	+	Intron	INS	-	TA	TA			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69391298_69391299insTA	uc004afn.2	+						ANKRD20A4_uc010mnw.1_Intron	NM_001098805	NP_001092275			ankyrin repeat domain 20 family, member A4												0																		---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836476	71836476	+	Intron	DEL	T	-	-	rs113816166		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836476delT	uc004ahe.2	+						TJP2_uc011lrs.1_Intron|TJP2_uc011lrt.1_Intron|TJP2_uc004ahd.2_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Intron|TJP2_uc011lrv.1_Intron	NM_004817	NP_004808			tight junction protein 2 (zona occludens 2)						cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	78917033	78917033	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78917033delT								PCSK5 (108695 upstream) : RFK (83400 downstream)																																			---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79890720delC	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79930064	79930064	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79930064delT	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron|VPS13A_uc010mpo.1_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
NXNL2	158046	broad.mit.edu	37	9	91150747	91150747	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91150747delC	uc011ltj.1	+						NXNL2_uc004aqa.2_Intron	NM_001161625	NP_001155097			nucleoredoxin-like 2 isoform 1												0																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95003101	95003101	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95003101delA	uc004art.1	-						IARS_uc004ars.1_Intron|IARS_uc004aru.3_Intron|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	NM_013417	NP_038203			isoleucine tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
C9orf5	23731	broad.mit.edu	37	9	111813112	111813112	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111813112delA	uc004bdt.3	-						C9orf5_uc004bds.3_Intron|C9orf5_uc004bdr.3_Intron	NM_032012	NP_114401			hypothetical protein LOC23731							integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)														---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119065092	119065093	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119065092_119065093insA	uc004bjn.2	+	10	3391_3392	c.3010_3011insA	c.(3010-3012)CAAfs	p.Q1004fs	PAPPA_uc011lxp.1_Frame_Shift_Ins_p.Q699fs|PAPPA_uc011lxq.1_Frame_Shift_Ins_p.Q379fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1004					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	127957481	127957481	+	IGR	DEL	A	-	-	rs79479616		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127957481delA								PPP6C (5263 upstream) : RABEPK (5336 downstream)																																			---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129596298	129596299	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129596298_129596299delAA	uc004bql.2	+	3					ZBTB43_uc010mxf.2_3'UTR	NM_014007	NP_054726			zinc finger and BTB domain containing 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131742685	131742685	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131742685delT	uc004bws.1	+							NM_015354	NP_056169			nucleoporin 188kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132848815	132848815	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132848815delT	uc004bze.2	+						GPR107_uc004bzb.2_Intron|GPR107_uc004bzc.3_Intron|GPR107_uc011mbx.1_Intron|GPR107_uc004bzd.2_Intron	NM_001136557	NP_001130029			G protein-coupled receptor 107 isoform 1							integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)																---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693635	137693637	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137693635_137693637delAAA	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
NACC2	138151	broad.mit.edu	37	9	138907999	138907999	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138907999delT	uc004cgw.2	-						NACC2_uc010nbh.2_Intron	NM_144653	NP_653254			BTB (POZ) domain containing 14A						negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0																		---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	390739	390739	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:390739delC	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
PITRM1	10531	broad.mit.edu	37	10	3201243	3201243	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3201243delA	uc010qah.1	-						PITRM1_uc001igr.1_Intron|PITRM1_uc001igt.1_Intron|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Intron|PITRM1_uc010qai.1_Intron|PITRM1_uc001igw.1_Intron					SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;						proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7423987	7423988	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7423987_7423988insA	uc009xio.1	-						SFMBT2_uc001ijn.1_Intron|SFMBT2_uc010qay.1_Intron|SFMBT2_uc001ijo.1_Intron	NM_001029880	NP_001025051			Scm-like with four mbt domains 2						regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	13199671	13199672	+	IGR	INS	-	G	G	rs113702003		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13199671_13199672insG								OPTN (19395 upstream) : MCM10 (3909 downstream)																																			---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15197377	15197377	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15197377delT	uc001inz.1	-						NMT2_uc001ioa.1_Intron|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Intron|uc010qca.1_5'Flank	NM_004808	NP_004799			N-myristoyltransferase 2						N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	18198214	18198214	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18198214delT	uc001ipm.2	+							NM_002438	NP_002429			mannose receptor C type 1 precursor						receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26855854	26855855	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26855854_26855855delAA	uc001iss.2	+							NM_019043	NP_061916			amyloid beta (A4) precursor protein-binding,						blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27311456	27311456	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27311456delT	uc001ith.2	-						ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Intron	NM_014915	NP_055730			ankyrin repeat domain 26							centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27458857	27458857	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27458857delT	uc001itm.2	+						MASTL_uc001itl.2_Intron|MASTL_uc009xkw.1_Intron|MASTL_uc009xkx.1_Intron	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30611196	30611196	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30611196delA	uc001iva.3	-						MTPAP_uc001ivb.3_Intron	NM_018109	NP_060579			PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37486587	37486587	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37486587delT	uc001iza.1	+							NM_052997	NP_443723			ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
HSD17B7P2	158160	broad.mit.edu	37	10	38666843	38666843	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38666843delT	uc001izq.2	+							NR_003086				Homo sapiens 17-beta-hydroxysteroid dehydrogenase type VII isoform mRNA, complete cds.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	43189775	43189776	+	5'Flank	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43189775_43189776insA	uc001jah.1	-											Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439.																														---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44104661	44104661	+	Intron	DEL	T	-	-	rs78524172		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44104661delT	uc010qfc.1	+						ZNF485_uc010qfd.1_Intron	NM_145312	NP_660355			zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CXCL12	6387	broad.mit.edu	37	10	44868832	44868832	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44868832delC	uc001jbf.2	-							NM_000609	NP_000600			chemokine (C-X-C motif) ligand 12 (stromal						blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity				0					Dexamethasone(DB01234)													---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49634259	49634259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49634259delT	uc009xnz.2	+						MAPK8_uc001jgl.2_Intron|MAPK8_uc001jgm.2_Intron|MAPK8_uc001jgo.2_Intron|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Intron|MAPK8_uc010qgk.1_Intron|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635			mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---
PARG	8505	broad.mit.edu	37	10	51466157	51466157	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51466157delA	uc001jih.2	-						uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|AGAP7_uc001jio.2_Intron	NM_003631	NP_003622			poly (ADP-ribose) glycohydrolase						carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	65662136	65662136	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:65662136delT								REEP3 (280165 upstream) : ANXA2P3 (923149 downstream)																																			---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69668900	69668900	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69668900delT	uc001jnd.2	+						SIRT1_uc010qis.1_Intron|SIRT1_uc009xpp.2_Intron|SIRT1_uc001jne.2_Intron	NM_012238	NP_036370			sirtuin 1 isoform a						apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70136913	70136913	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70136913delT	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'UTR	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70140858	70140858	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70140858delA	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71003256	71003257	+	Intron	DEL	TT	-	-	rs33955218		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71003256_71003257delTT	uc001jpf.3	+						HKDC1_uc010qje.1_Intron	NM_025130	NP_079406			hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71917453	71917453	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71917453delA	uc010qjh.1	-						SAR1A_uc010qji.1_Intron|SAR1A_uc010qjj.1_Intron	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179965	72179966	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179965_72179966insT	uc001jrb.2	+							NM_004096	NP_004087			eukaryotic translation initiation factor 4E						negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73887716	73887716	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73887716delA	uc001jst.1	-						ASCC1_uc001jsr.1_Intron|ASCC1_uc001jss.1_Intron|ASCC1_uc001jsu.1_Intron|ASCC1_uc010qju.1_Intron					RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0																		---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75560464delC	uc009xrl.2	+	24	5110	c.5078delC	c.(5077-5079)TCCfs	p.S1693fs	KIAA0913_uc001jve.2_Frame_Shift_Del_p.S1698fs|KIAA0913_uc001jvf.2_Frame_Shift_Del_p.S1511fs|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Frame_Shift_Del_p.S1120fs|KIAA0913_uc010qkr.1_Frame_Shift_Del_p.S1108fs|KIAA0913_uc001jvj.2_Frame_Shift_Del_p.S1108fs|KIAA0913_uc009xrn.1_Frame_Shift_Del_p.S104fs	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1693							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75584959	75584959	+	Intron	DEL	G	-	-	rs137992560	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75584959delG	uc001jvv.1	-						CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc010qkv.1_Intron|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911			calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75893990	75893990	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75893990delA	uc001jwf.2	-						AP3M1_uc001jwg.2_Intron|AP3M1_uc001jwh.2_Intron|AP3M1_uc010qla.1_Intron	NM_207012	NP_996895			adaptor-related protein complex 3, mu 1 subunit						protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)																	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81680656delA	uc001kbf.2	+						MBL1P_uc001kbg.1_RNA					Homo sapiens mannose-binding protein-A pseudogene (MBL1P1) mRNA sequence.												0																		---	---	---	---
RNLS	55328	broad.mit.edu	37	10	90034668	90034668	+	3'UTR	DEL	A	-	-	rs113106989		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90034668delA	uc001kfd.2	-	7					RNLS_uc010qms.1_Intron	NM_018363	NP_060833			renalase isoform 2							extracellular region	oxidoreductase activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	94968105	94968105	+	IGR	DEL	T	-	-	rs76646378		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94968105delT								CYP26A1 (130464 upstream) : MYOF (98082 downstream)																																			---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96094287	96094287	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96094287delA	uc001kjq.1	-							NM_022451	NP_071896			nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98325349	98325349	+	Intron	DEL	T	-	-	rs146162227		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98325349delT	uc001kmm.3	-						TM9SF3_uc010qot.1_Intron	NM_020123	NP_064508			transmembrane 9 superfamily member 3 precursor							integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99221731	99221731	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99221731delA	uc001kns.3	-						MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Intron|MMS19_uc009xvt.2_Intron|MMS19_uc001knr.2_Intron|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Intron|MMS19_uc001knu.1_Intron	NM_022362	NP_071757			MMS19 nucleotide excision repair homolog						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
ERLIN1	10613	broad.mit.edu	37	10	101926992	101926992	+	Intron	DEL	A	-	-	rs75860150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101926992delA	uc001kqn.3	-						ERLIN1_uc001kqo.3_Intron|ERLIN1_uc010qpm.1_Intron	NM_006459	NP_006450			ER lipid raft associated 1						ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding				0		Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)														---	---	---	---
HIF1AN	55662	broad.mit.edu	37	10	102305592	102305592	+	Intron	DEL	T	-	-	rs11817143	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102305592delT	uc001krj.3	+							NM_017902	NP_060372			hypoxia-inducible factor 1, alpha subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111651337	111651337	+	Intron	DEL	T	-	-	rs112429910		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111651337delT	uc001kyp.1	-						XPNPEP1_uc009xxt.1_Intron|XPNPEP1_uc001kyq.1_Intron|XPNPEP1_uc010qrb.1_Intron	NM_020383	NP_065116			X-prolyl aminopeptidase (aminopeptidase P) 1,						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
ACSL5	51703	broad.mit.edu	37	10	114135945	114135945	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114135945delA	uc001kzs.2	+						ACSL5_uc001kzt.2_Intron|ACSL5_uc001kzu.2_5'Flank	NM_203379	NP_976313			acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)														---	---	---	---
VTI1A	143187	broad.mit.edu	37	10	114297977	114297977	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114297977delT	uc001kzy.2	+						VTI1A_uc001kzz.2_Intron	NM_145206	NP_660207			SNARE Vti1a-beta protein						intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116335018	116335018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116335018delT	uc010qsg.1	-						ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116734855	116734855	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116734855delT	uc001lcd.2	+						TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908			TruB pseudouridine (psi) synthase homolog 1						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)														---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123987553	123987554	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123987553_123987554insT	uc001lfv.2	+						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Intron|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron	NM_206862	NP_996744			transforming, acidic coiled-coil containing							microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789606	127789607	+	Intron	DEL	TT	-	-	rs79010435		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127789606_127789607delTT	uc001ljk.2	-						ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron	NM_003474	NP_003465			ADAM metallopeptidase domain 12 isoform 1						cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624450	5624451	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5624450_5624451insT	uc001mbf.2	+						HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819			tripartite motif-containing 6 and tripartite							intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7655601	7655602	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7655601_7655602insT	uc001mfj.3	+						PPFIBP2_uc010rbb.1_Intron|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Intron|PPFIBP2_uc010rbd.1_Intron|PPFIBP2_uc010rbe.1_Intron|PPFIBP2_uc001mfl.3_Intron|PPFIBP2_uc009yfj.1_Intron	NM_003621	NP_003612			PTPRF interacting protein, binding protein 2						cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8160039	8160040	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8160039_8160040delAA	uc001mgd.2	-						RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Intron|RIC3_uc010rbm.1_Intron|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_078833			resistance to inhibitors of cholinesterase 3							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	20596096	20596096	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20596096delC								PRMT3 (65219 upstream) : SLC6A5 (24850 downstream)																																			---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22233000	22233000	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22233000delA	uc001mqi.2	+						ANO5_uc001mqj.2_Intron	NM_213599	NP_998764			anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844691	22844691	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844691delA	uc001mqp.3	-							NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33589821	33589821	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33589821delG	uc001mup.3	+						C11orf41_uc001mun.1_Intron	NM_012194	NP_036326			hypothetical protein LOC25758							integral to membrane				ovary(2)	2																		---	---	---	---
CAT	847	broad.mit.edu	37	11	34489736	34489736	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34489736delT	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
CAT	847	broad.mit.edu	37	11	34490058	34490059	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34490058_34490059delAA	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34979161	34979161	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34979161delA	uc001mvt.2	+						PDHX_uc010rep.1_Intron|PDHX_uc010req.1_Intron	NM_003477	NP_003468			pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)															---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40135879	40135879	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:40135879delT	uc001mxa.1	-	2					LRRC4C_uc001mxc.1_3'UTR|LRRC4C_uc001mxd.1_3'UTR|LRRC4C_uc001mxb.1_3'UTR	NM_020929	NP_065980			netrin-G1 ligand precursor						regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)																---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47823232	47823232	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47823232delT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47841147	47841148	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47841147_47841148delTT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	49860159	49860159	+	IGR	DEL	T	-	-	rs112842155		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49860159delT								LOC440040 (28192 upstream) : OR4C13 (113816 downstream)																																			---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57078042	57078042	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57078042delA	uc001njr.2	-						TNKS1BP1_uc001njs.2_Intron|TNKS1BP1_uc009ymd.1_Intron	NM_033396	NP_203754			tankyrase 1-binding protein 1						nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
CLP1	10978	broad.mit.edu	37	11	57428126	57428126	+	Intron	DEL	A	-	-	rs74496835		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57428126delA	uc001nkw.2	+						CLP1_uc010rjw.1_Intron|CLP1_uc009yml.2_Intron	NM_006831	NP_006822			ATP/GTP-binding protein isoform 1						mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1																		---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58379334	58379334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58379334delA	uc001nmx.3	+						ZFP91_uc001nmy.3_Intron|ZFP91-CNTF_uc010rkm.1_Intron	NM_053023	NP_444251			zinc finger protein 91						activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)																---	---	---	---
AIP	9049	broad.mit.edu	37	11	67254767	67254767	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67254767delT	uc001olv.2	+							NM_003977	NP_003968			aryl hydrocarbon receptor interacting protein						protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0														Familial_Isolated_Pituitary_Adenoma_				---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70275373	70275373	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70275373delG	uc001opv.3	+						CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Intron|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Intron	NM_005231	NP_005222			cortactin isoform a							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---
RNF121	55298	broad.mit.edu	37	11	71705621	71705621	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71705621delA	uc001ora.2	+						RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	NM_018320	NP_060790			ring finger protein 121							integral to membrane	zinc ion binding				0																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82894176	82894176	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82894176delT	uc001ozx.3	+							NM_015885	NP_056969			pre-mRNA cleavage complex II protein Pcf11						mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	89769257	89769257	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89769257delA	uc010rua.1	+							NM_020358	NP_065091			ring finger protein 18																														---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92896062	92896062	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92896062delT	uc001pdn.2	-						SLC36A4_uc001pdm.2_Intron	NM_152313	NP_689526			solute carrier family 36 (proton/amino acid						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
CWC15	51503	broad.mit.edu	37	11	94696475	94696475	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94696475delA	uc001pfd.3	-	8						NM_016403	NP_057487			CWC15 homolog						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102647188	102647188	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102647188delA	uc001phg.1	-							NM_002425	NP_002416			matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103128230	103128230	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103128230delT	uc001pho.2	+						DYNC2H1_uc001phn.1_Intron|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869776	104869776	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869776delT	uc010rva.1	-						CASP5_uc010ruz.1_Intron|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338			caspase 5 isoform a precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105929470	105929472	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105929470_105929472delTTT	uc001pja.2	-						KBTBD3_uc001pjb.2_Intron|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841			BTB and kelch domain containing 3											ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111946474	111946475	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111946474_111946475insT	uc001pmr.3	+						PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Intron|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953144	111953144	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953144delT	uc001pmr.3	+						C11orf57_uc001pmu.2_3'UTR|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953289	111953289	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953289delA	uc001pmr.3	+	6	1153	c.472delA	c.(472-474)AAAfs	p.K158fs	C11orf57_uc001pmw.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmt.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmv.3_Frame_Shift_Del_p.K158fs|C11orf57_uc001pms.3_Frame_Shift_Del_p.K130fs	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	158	Lys-rich.									breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
IL18	3606	broad.mit.edu	37	11	112024223	112024223	+	Intron	DEL	T	-	-	rs78854082		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112024223delT	uc001pnb.1	-						IL18_uc001pna.1_5'Flank|IL18_uc009yym.1_Intron	NM_001562	NP_001553			interleukin 18 proprotein						angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113187142	113187142	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113187142delA	uc001pnu.2	+						TTC12_uc001pnv.2_Intron|TTC12_uc001pnw.2_Intron|TTC12_uc001pnx.2_Intron	NM_017868	NP_060338			tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113266217	113266217	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113266217delG	uc001pny.2	+							NM_178510	NP_848605			ankyrin repeat and kinase domain containing 1								ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)														---	---	---	---
REXO2	25996	broad.mit.edu	37	11	114314854	114314854	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114314854delT	uc001poy.2	+						REXO2_uc001poz.2_Intron	NM_015523	NP_056338			small fragment nuclease precursor						nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding				0		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155670	117155670	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155670delA	uc001pqt.2	+						RNF214_uc001pqu.2_Intron|RNF214_uc010rxf.1_Intron	NM_207343	NP_997226			ring finger protein 214								zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
MPZL2	10205	broad.mit.edu	37	11	118130541	118130541	+	Intron	DEL	C	-	-	rs67304385		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118130541delC	uc001psn.2	-						MPZL2_uc001pso.2_Intron|MPZL2_uc001psp.1_3'UTR	NM_005797	NP_005788			myelin protein zero-like 2 precursor						anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120973343	120973343	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120973343delT	uc010rzo.1	+							NM_005422	NP_005413			tectorin alpha precursor						cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125481184	125481184	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125481184delT	uc001qcd.2	+						STT3A_uc001qce.2_Intron|STT3A_uc010sbg.1_Intron|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926			integral membrane protein 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)														---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125496889	125496889	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125496889delA	uc009zbo.2	+						CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Intron|CHEK1_uc009zbp.2_Intron|CHEK1_uc001qcg.3_Intron|CHEK1_uc009zbq.2_Intron|CHEK1_uc001qci.1_Intron	NM_001114122	NP_001107594			checkpoint kinase 1						cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)									Other_conserved_DNA_damage_response_genes					---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128350397	128350398	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128350397_128350398delAA	uc010sbs.1	-						ETS1_uc001qej.2_Intron|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229			v-ets erythroblastosis virus E26 oncogene						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)														---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134072805	134072805	+	Intron	DEL	A	-	-	rs34989286		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134072805delA	uc001qhd.1	-						NCAPD3_uc010scm.1_Intron|NCAPD3_uc009zda.1_Intron	NM_015261	NP_056076			non-SMC condensin II complex, subunit D3						cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)														---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2016939	2016951	+	Intron	DEL	GCCTGGTGAGTAT	-	-	rs113797488		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2016939_2016951delGCCTGGTGAGTAT	uc001qjp.2	-						CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952			voltage-gated calcium channel alpha(2)delta-4							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	6994172	6994172	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6994172delT	uc001qrn.1	+							NM_006992	NP_008923			leucine rich repeat containing 23 isoform b											ovary(1)	1																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10775373	10775373	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10775373delA	uc001qys.2	-							NM_018423	NP_060893			serine/threonine/tyrosine kinase 1							integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14775148	14775148	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14775148delA	uc001rcd.2	-							NM_004963	NP_004954			guanylate cyclase 2C precursor						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15656757	15656757	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15656757delT	uc001rcv.1	+						PTPRO_uc001rcw.1_Intron|PTPRO_uc001rcu.1_Intron	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377827	21377827	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377827delA	uc001req.3	+							NM_006446	NP_006437			solute carrier organic anion transporter family,						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22025423	22025423	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22025423delT	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22035949	22035949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22035949delA	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
KIAA0528	9847	broad.mit.edu	37	12	22625136	22625136	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22625136delA	uc001rfq.2	-						KIAA0528_uc010sir.1_Intron|KIAA0528_uc010sis.1_Intron|KIAA0528_uc010sit.1_Intron|KIAA0528_uc010siu.1_Intron|KIAA0528_uc001rfr.2_Intron	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
BCAT1	586	broad.mit.edu	37	12	24989606	24989606	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24989606delA	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495			branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)													---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25260649	25260649	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25260649delG	uc001rgh.2	+						LRMP_uc010sja.1_Intron|LRMP_uc010sjb.1_Intron|LRMP_uc001rgi.2_Intron|LRMP_uc010sjc.1_Intron|LRMP_uc010sjd.1_Intron	NM_006152	NP_006143			lymphoid-restricted membrane protein						vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)																	---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26377487	26377487	+	Intron	DEL	T	-	-	rs77713712		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26377487delT	uc001rhe.2	+						SSPN_uc001rhd.2_Intron|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077			sarcospan isoform 1						cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26629765	26629765	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26629765delT	uc001rhg.2	-						ITPR2_uc009zjg.1_Intron	NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26807105	26807105	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26807105delA	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26868528	26868529	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26868528_26868529insG	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ERGIC2	51290	broad.mit.edu	37	12	29502923	29502923	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29502923delA	uc001riv.2	-						ERGIC2_uc001riw.2_Intron	NM_016570	NP_057654			PTX1 protein						vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)													---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31435557	31435557	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31435557delA	uc010sjz.1	-	6					FAM60A_uc001rkd.2_3'UTR|FAM60A_uc010ska.1_3'UTR|FAM60A_uc001rke.2_3'UTR|FAM60A_uc010skb.1_RNA|FAM60A_uc001rkc.2_3'UTR	NM_021238	NP_067061			family with sequence similarity 60, member A												0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)																	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40265442	40265442	+	Intron	DEL	T	-	-	rs78698425		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40265442delT	uc010skm.1	-						C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Intron	NM_052885	NP_443117			solute carrier family 2 (facilitated glucose							integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)													HNSCC(50;0.14)			---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45741713	45741713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45741713delT	uc001roo.2	+						ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Intron|ANO6_uc010slg.1_Intron	NM_001025356	NP_001020527			anoctamin 6 isoform a						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2																		---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46275603	46275603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46275603delT	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.1_Intron|ARID2_uc001rou.1_Intron	NM_152641	NP_689854			AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49445525_49445526insG	uc001rta.3	-	10	1940_1941	c.1940_1941insC	c.(1939-1941)CCAfs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|14.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50824444	50824444	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50824444delT	uc001rwp.1	+						LARP4_uc001rwo.1_Intron|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Intron|LARP4_uc001rws.1_Intron|LARP4_uc001rwm.2_Intron|LARP4_uc001rwn.2_Intron	NM_052879	NP_443111			c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53865350	53865350	+	Intron	DEL	G	-	-	rs149798027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53865350delG	uc001sdl.3	+						PCBP2_uc001sdc.3_Intron|PCBP2_uc001sdb.3_Intron|PCBP2_uc001sde.3_Intron|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Intron|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Intron	NM_001128911	NP_001122383			poly(rC) binding protein 2 isoform d						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0																		---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56494192	56494193	+	Intron	DEL	AG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56494192_56494193delAG	uc001sjh.2	+						ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Intron|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Intron|ERBB3_uc001sjl.2_Intron	NM_001982	NP_001973			erbB-3 isoform 1 precursor						cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56822988	56822988	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56822988delT	uc001slf.2	-						TIMELESS_uc001slg.2_Intron	NM_003920	NP_003911			timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56865713	56865713	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56865713delG	uc001slj.2	-						GLS2_uc009zos.2_Intron|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399			glutaminase 2 precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57562807	57562807	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57562807delG	uc001snd.2	+						LRP1_uc009zpi.1_Intron	NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57642161	57642163	+	Intron	DEL	TTT	-	-	rs113333044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57642161_57642163delTTT	uc001snp.2	-						STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501			SH3 and cysteine rich domain 3						intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TSFM	10102	broad.mit.edu	37	12	58180702	58180702	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58180702delT	uc001sqi.2	+						TSFM_uc010sse.1_Intron|TSFM_uc001sqh.2_Intron|TSFM_uc010ssf.1_Intron	NM_005726	NP_005717			Ts translation elongation factor, mitochondrial						regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64828782	64828782	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64828782delT	uc001ssb.2	+							NM_007235	NP_009166			tRNA exportin						intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)														---	---	---	---
NUP107	57122	broad.mit.edu	37	12	69126366	69126366	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69126366delA	uc001suf.2	+						NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Intron	NM_020401	NP_065134			nucleoporin 107kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
TSPAN8	7103	broad.mit.edu	37	12	71523013	71523013	+	Intron	DEL	T	-	-	rs112700480		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71523013delT	uc009zrt.1	-						TSPAN8_uc001swk.1_Intron|TSPAN8_uc001swj.1_Intron	NM_004616	NP_004607			transmembrane 4 superfamily member 3						protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)															---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72287221	72287222	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72287221_72287222delTG	uc001swu.2	+						TBC1D15_uc009zrv.2_Intron|TBC1D15_uc010stt.1_Intron|TBC1D15_uc001swv.2_Intron|TBC1D15_uc001sww.2_Intron	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73057100	73057100	+	3'UTR	DEL	T	-	-	rs77607591		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73057100delT	uc001sxa.2	+	19						NM_013381	NP_037513			thyrotropin-releasing hormone degrading enzyme						cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80658629	80658629	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80658629delA								PPP1R12A (329394 upstream) : PTPRQ (179497 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	12	80706601	80706601	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80706601delT								PPP1R12A (377366 upstream) : PTPRQ (131525 downstream)																																			---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81648872	81648873	+	3'UTR	INS	-	T	T	rs116290027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81648872_81648873insT	uc001szl.1	+	16					ACSS3_uc001szm.1_3'UTR|ACSS3_uc001szn.1_3'UTR	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MRPL42	28977	broad.mit.edu	37	12	93873154	93873154	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93873154delT	uc001tcr.2	+						MRPL42_uc001tcq.2_Intron|MRPL42_uc001tcs.2_Intron|MRPL42_uc001tct.2_Intron	NM_172177	NP_751917			mitochondrial ribosomal protein L42 isoform a						translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			ovary(2)	2																		---	---	---	---
NR2C1	7181	broad.mit.edu	37	12	95453642	95453642	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95453642delT	uc001tdm.3	-						NR2C1_uc010suu.1_Intron|NR2C1_uc001tdo.3_Intron|NR2C1_uc001tdn.3_Intron	NM_003297	NP_003288			nuclear receptor subfamily 2, group C, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95657043	95657043	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95657043delA	uc001tdz.2	+						VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Intron|VEZT_uc001tdt.2_Intron|VEZT_uc009zsz.1_Intron|VEZT_uc001tdv.2_Intron|VEZT_uc001tdw.1_Intron|VEZT_uc009zta.1_Intron	NM_017599	NP_060069			vezatin, adherens junctions transmembrane							acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97082938	97082938	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97082938delT	uc001tet.1	+							NM_198520	NP_940922			hypothetical protein LOC374467											skin(6)|ovary(1)	7																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100709304	100709304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100709304delT	uc001thn.2	+						SCYL2_uc009ztw.1_Intron|SCYL2_uc001thm.1_Intron	NM_017988	NP_060458			SCY1-like 2 protein						endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113645153	113645153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113645153delA	uc001tuv.1	-						IQCD_uc001tuu.2_Intron	NM_138451	NP_612460			IQ motif containing D											ovary(1)	1																		---	---	---	---
SLC24A6	80024	broad.mit.edu	37	12	113748006	113748006	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113748006delC	uc001tvc.2	-						SLC24A6_uc001tuz.2_Intron|SLC24A6_uc001tva.2_Intron|SLC24A6_uc001tvb.2_Intron	NM_024959	NP_079235			solute carrier family 24 member 6 precursor						response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1																		---	---	---	---
VSIG10	54621	broad.mit.edu	37	12	118519823	118519830	+	Intron	DEL	AAAAAAAA	-	-	rs11413291		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118519823_118519830delAAAAAAAA	uc001tws.2	-							NM_019086	NP_061959			V-set and immunoglobulin domain containing 10							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	119633369	119633370	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119633369_119633370insG								HSPB8 (819 upstream) : LOC144742 (88260 downstream)																																			---	---	---	---
RNF10	9921	broad.mit.edu	37	12	120990203	120990203	+	Intron	DEL	A	-	-	rs112757664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120990203delA	uc001typ.3	+						RNF10_uc010szk.1_Intron|RNF10_uc001tyq.3_Intron	NM_014868	NP_055683			ring finger protein 10						negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121690305	121690306	+	Intron	INS	-	CTGGTGATCCGC	CTGGTGATCCGC	rs146470009	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121690305_121690306insCTGGTGATCCGC	uc001tzu.2	-						CAMKK2_uc001tzt.2_Intron|CAMKK2_uc001tzv.2_Intron|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Intron|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron|CAMKK2_uc001uab.2_Intron|CAMKK2_uc001uac.2_Intron	NM_006549	NP_006540			calcium/calmodulin-dependent protein kinase						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122819156	122819156	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122819156delT	uc001ucg.1	-						CLIP1_uc001uch.1_Intron|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947			restin isoform a						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123036453	123036453	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123036453delT	uc001ucv.2	+						KNTC1_uc010taf.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123343928	123343928	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123343928delG	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)														---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123816078	123816078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123816078delT	uc010tap.1	-						SBNO1_uc010tao.1_Intron|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Intron|SBNO1_uc001ueu.2_Intron|SBNO1_uc001uev.2_Intron|SBNO1_uc009zxy.1_Intron	NM_018183	NP_060653			sno, strawberry notch homolog 1								ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124337720	124337720	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124337720delT	uc001uft.3	+							NM_207437	NP_997320			dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130856213	130856213	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130856213delT	uc001uik.2	+	21						NM_004764	NP_004755			piwi-like 1						gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	19761247	19761248	+	IGR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19761247_19761248delTT								TUBA3C (5311 upstream) : LOC100101938 (75693 downstream)																																			---	---	---	---
LOC100101938	100101938	broad.mit.edu	37	13	19868887	19868888	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19868887_19868888insA	uc010tck.1	-							NR_027248				Homo sapiens cDNA clone IMAGE:5265638.												0																		---	---	---	---
RPL21	6144	broad.mit.edu	37	13	27830554	27830554	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27830554delT	uc001ura.2	+							NM_000982	NP_000973			ribosomal protein L21						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)														---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28845155	28845155	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28845155delA	uc001urz.2	+						PAN3_uc010tdo.1_Intron|PAN3_uc001ury.2_Intron|PAN3_uc001urx.2_Intron	NM_175854	NP_787050			PABP1-dependent poly A-specific ribonuclease						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33320006	33320006	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33320006delT	uc010abf.2	+						PDS5B_uc010abg.2_Intron	NM_015032	NP_055847			PDS5, regulator of cohesion maintenance, homolog						cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33344888delA	uc010abf.2	+	33	4319	c.4161delA	c.(4159-4161)CCAfs	p.P1387fs	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1387					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34400078	34400078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:34400078delT	uc001uuz.2	+						RFC3_uc001uva.2_Intron|RFC3_uc010ted.1_Intron	NM_002915	NP_002906			replication factor C 3 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36006603	36006603	+	Intron	DEL	T	-	-	rs75161455		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36006603delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36219988	36219988	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36219988delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_Intron|NBEA_uc001uvd.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40268934	40268934	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40268934delT	uc001uxh.2	+						COG6_uc001uxi.2_Intron|COG6_uc010acb.2_Intron	NM_020751	NP_065802			component of oligomeric golgi complex 6 isoform						protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46919832	46919832	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46919832delT	uc010acl.2	-						C13orf18_uc010tfy.1_Intron|C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_Intron|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Intron|C13orf18_uc001vbh.3_Intron|C13orf18_uc001vbi.3_Intron	NM_025113	NP_079389			hypothetical protein LOC80183												0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53000038	53000038	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53000038delA	uc001vgs.2	-						VPS36_uc001vgq.2_Intron	NM_016075	NP_057159			vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616753	60616754	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616753_60616754insA	uc001vht.2	-						DIAPH3_uc001vhw.1_Intron|DIAPH3_uc010aed.1_Intron|DIAPH3_uc010aee.1_Intron|uc001vhx.2_Intron	NM_001042517	NP_001035982			diaphanous homolog 3 isoform a						actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176755	79176756	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79176755_79176756delAC	uc001vkv.2	-						uc001vku.1_Intron	NM_006237	NP_006228			POU domain, class 4, transcription factor 1						axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)														---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96251812	96251812	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96251812delA	uc001vmk.2	-						DZIP1_uc001vmj.2_5'UTR|DZIP1_uc001vml.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673085	98673085	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673085delT	uc001vne.2	+							NM_002271	NP_002262			importin 5						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
UBAC2	337867	broad.mit.edu	37	13	100020309	100020309	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100020309delT	uc001voa.3	+						UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Intron	NM_001144072	NP_001137544			UBA domain containing 2 isoform 1							integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101277621	101277621	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101277621delA	uc001vou.2	-						TMTC4_uc001vot.2_Intron|TMTC4_uc010tja.1_Intron|TMTC4_uc001vov.1_3'UTR|TMTC4_uc001vow.1_3'UTR	NM_001079669	NP_001073137			transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103282656	103282656	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103282656delT	uc001vpi.3	+							NM_003291	NP_003282			tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115004335	115004335	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115004335delT	uc001vuk.1	+						CDC16_uc010tkm.1_Intron|CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20818653	20818654	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20818653_20818654insT	uc001vxc.2	+						PARP2_uc001vxd.2_Intron|PARP2_uc001vxb.1_Intron	NM_005484	NP_005475			poly (ADP-ribose) polymerase family, member 2						protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
Unknown	0	broad.mit.edu	37	14	22409536	22409542	+	Intron	DEL	TCTCTTT	-	-	rs57759840		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22409536_22409542delTCTCTTT	uc001wbw.2	+						uc010tmg.1_Intron|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010ajb.1_Intron|uc001wck.2_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22987602	22987602	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22987602delA	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfo.2_Intron|uc001wfp.2_Intron|uc001wfq.1_5'Flank|uc001wfr.1_5'Flank|uc010ajz.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341401	23341401	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23341401delC	uc001whd.2	+	1					LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764			low density lipoprotein receptor-related protein						endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874770	23874770	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874770delC	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24537607	24537608	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24537607_24537608delAA	uc001wlj.2	+						LRRC16B_uc001wlk.2_Intron|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank	NM_138360	NP_612369			leucine rich repeat containing 16B											ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31112379	31112379	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31112379delA	uc001wqm.1	+						SCFD1_uc001wqn.1_Intron|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_Intron|SCFD1_uc010amf.1_Intron|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Intron	NM_016106	NP_057190			vesicle transport-related protein isoform a						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31549990	31549990	+	Intron	DEL	T	-	-	rs80049494		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31549990delT	uc001wqy.3	+						AP4S1_uc001wqw.3_Intron|AP4S1_uc001wqx.3_Intron|AP4S1_uc010amh.2_Intron|AP4S1_uc001wqz.3_Intron	NM_001128126	NP_001121598			adaptor-related protein complex 4, sigma 1							coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31581823	31581823	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31581823delT	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31777238	31777238	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31777238delA	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31789928	31789928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31789928delT	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
NUBPL	80224	broad.mit.edu	37	14	32142486	32142486	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32142486delA	uc001wrk.3	+						NUBPL_uc010amj.2_Intron|NUBPL_uc010tpl.1_Intron	NM_025152	NP_079428			nucleotide binding protein-like						mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)														---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36777407	36777407	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36777407delA	uc001wtm.2	-						MBIP_uc001wto.2_Intron|MBIP_uc010tpy.1_Intron|MBIP_uc001wtn.2_Intron	NM_016586	NP_057670			MAP3K12 binding inhibitory protein 1 isoform 1						histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39545303	39545303	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39545303delA	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_Intron	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39868656	39868656	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39868656delA	uc001wvk.2	-	4						NM_203301	NP_976046			F-box protein 33												0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52936948	52936948	+	Intron	DEL	A	-	-	rs34421151		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52936948delA	uc001wzs.2	-						TXNDC16_uc010tqu.1_Intron|TXNDC16_uc010aoe.2_Intron	NM_020784	NP_065835			thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097034	60097034	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097034delC	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61441971	61441971	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61441971delA	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62234188	62234188	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62234188delT	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62567095	62567095	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62567095delT	uc001xfu.1	+						SYT16_uc010tse.1_Intron	NM_031914	NP_114120			synaptotagmin XIV-like											central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64867679	64867679	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64867679delT	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66135890	66135890	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:66135890delA	uc001xin.2	+						FUT8_uc001xio.2_Intron|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Intron|FUT8_uc001xip.2_Intron|FUT8_uc001xiq.2_Intron|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368			fucosyltransferase 8 isoform a						in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)														---	---	---	---
EIF2S1	1965	broad.mit.edu	37	14	67831815	67831816	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67831815_67831816delAA	uc001xjg.2	+							NM_004094	NP_004085			eukaryotic translation initiation factor 2,							cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)														---	---	---	---
RAD51L1	5890	broad.mit.edu	37	14	68331959	68331960	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68331959_68331960delTT	uc001xkf.1	+						RAD51L1_uc010aqq.2_Intron|RAD51L1_uc001xkd.2_Intron|RAD51L1_uc010aqr.2_Intron|RAD51L1_uc001xke.2_Intron|RAD51L1_uc010aqs.1_Intron|RAD51L1_uc001xkg.1_Intron	NM_133509	NP_598193			RAD51-like 1 isoform 3						blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0				UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)				T	HMGA2	lipoma|uterine leiomyoma			Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
Unknown	0	broad.mit.edu	37	14	70270922	70270923	+	IGR	DEL	TT	-	-	rs11429169		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70270922_70270923delTT								SLC10A1 (6916 upstream) : SMOC1 (75220 downstream)																																			---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70351984	70351986	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70351984_70351986delTTT	uc001xls.1	+						SMOC1_uc001xlt.1_Intron	NM_022137	NP_071420			secreted modular calcium-binding protein 1						cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74153808	74153808	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74153808delA	uc001xoq.3	+						DNAL1_uc010aru.2_Intron|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615			axonemal dynein light chain 1												0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
KIAA0317	9870	broad.mit.edu	37	14	75137987	75137988	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75137987_75137988delTT	uc001xqb.2	-						KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Intron	NM_001039479	NP_001034568			hypothetical protein LOC9870						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)														---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75601712	75601712	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75601712delA	uc001xrm.1	-						TMED10_uc010ash.1_Intron|TMED10_uc010asg.1_Intron|TMED10_uc010tuz.1_Intron	NM_006827	NP_006818			transmembrane emp24 domain-containing protein 10						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)														---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021964	78021964	+	Intron	DEL	T	-	-	rs151267420	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78021964delT	uc001xub.2	-							NM_004863	NP_004854			serine palmitoyltransferase, long chain base							integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670639	81670639	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81670639delT	uc001xvf.1	-						GTF2A1_uc010atb.1_Intron|GTF2A1_uc001xvg.1_Intron|GTF2A1_uc001xvh.1_Intron|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943			TFIIA alpha, p55 isoform 1						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	83158940	83158941	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:83158940_83158941insT								None (None upstream) : None (None downstream)																																			---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92482002	92482002	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92482002delA	uc001xzy.2	-						TRIP11_uc010auf.1_Intron	NM_004239	NP_004230			thyroid hormone receptor interactor 11						transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92562289	92562289	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92562289delA	uc001yac.3	-						ATXN3_uc010aug.2_Intron|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984			ataxin 3 reference isoform						cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93282502	93282502	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93282502delT	uc001yaz.1	+							NM_005113	NP_005104			Golgi autoantigen, golgin subfamily a, 5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)				T	RET	papillary thyroid								---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95581844	95581844	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95581844delA	uc001ydw.2	-						DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron	NM_030621	NP_085124			dicer1						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97019076	97019076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97019076delT	uc001yfq.2	+						PAPOLA_uc001yfr.2_Intron|PAPOLA_uc010twv.1_Intron|PAPOLA_uc010avp.2_Intron	NM_032632	NP_116021			poly(A) polymerase alpha						mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
EML1	2009	broad.mit.edu	37	14	100377967	100377967	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100377967delT	uc001ygs.2	+						EML1_uc010tww.1_Intron|EML1_uc001ygr.2_Intron	NM_004434	NP_004425			echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103441860	103441860	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103441860delA	uc001ymi.1	-							NM_006035	NP_006026			CDC42-binding protein kinase beta						actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
XRCC3	7517	broad.mit.edu	37	14	104165201	104165201	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104165201delG	uc001yny.3	-	10	1355	c.975delC	c.(973-975)CCCfs	p.P325fs	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001ynz.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001yoa.3_Frame_Shift_Del_p.P325fs	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	325					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
NF1P1	440225	broad.mit.edu	37	15	21136692	21136693	+	5'Flank	DEL	CA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:21136692_21136693delCA	uc001ytv.1	-											Human NF1-related locus DNA in A9 mouse DNA background.												0																		---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22870060	22870060	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22870060delT	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22980298	22980299	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22980298_22980299delTT	uc001yus.2	+						CYFIP1_uc001yut.2_Intron|CYFIP1_uc010aya.1_Intron|CYFIP1_uc001yuu.2_Intron|CYFIP1_uc001yuv.2_Intron	NM_014608	NP_055423			cytoplasmic FMR1 interacting protein 1 isoform						axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114116	23114116	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114116delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114370	23114370	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114370delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331164	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23331163_23331164delAA	uc001yvr.2	-						HERC2P2_uc010ayf.1_Intron					RecName: Full=Putative HERC2-like protein 3;												0																		---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222784	25222784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25222784delA	uc001ywp.1	+						SNRPN_uc001ywq.1_Intron|SNRPN_uc001ywr.1_Intron|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_Intron|SNRPN_uc001ywv.1_Intron|SNRPN_uc001yww.1_Intron|SNRPN_uc001ywx.1_Intron|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_Intron	NM_022807	NP_073718			small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25227367	25227367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25227367delT	uc001ywz.1	+						PAR-SN_uc001yxa.1_RNA|PAR-SN_uc001yxc.2_RNA|PAR-SN_uc001yxb.3_RNA|PAR5_uc001yxd.2_5'Flank					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26828329	26828330	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26828329_26828330delTC	uc001zaz.2	-						GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron	NM_000814	NP_000805			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473276	28473279	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28473276_28473279delAAAA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28537949	28537949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28537949delA	uc001zbj.2	-						HERC2_uc001zbl.1_Intron	NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30010055	30010055	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30010055delT	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38792548	38792549	+	Intron	DEL	TG	-	-	rs12904148	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38792548_38792549delTG	uc001zke.3	-						RASGRP1_uc010bbe.2_Intron|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Intron	NM_005739	NP_005730			RAS guanyl releasing protein 1 isoform a						cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)														---	---	---	---
RAD51	5888	broad.mit.edu	37	15	41020654	41020655	+	Intron	DEL	AA	-	-	rs34910367		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41020654_41020655delAA	uc001zmi.3	+						RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Intron|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Intron	NM_002875	NP_002866			RAD51 homolog protein isoform 1						DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)									Homologous_recombination					---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43252975	43252975	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43252975delT	uc001zqq.2	-							NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43317302	43317302	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43317302delT	uc001zqq.2	-						UBR1_uc010udk.1_Intron	NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43512848	43512848	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43512848delC	uc001zra.3	-						EPB42_uc001zrb.3_Intron|EPB42_uc010udm.1_Intron	NM_001114134	NP_001107606			erythrocyte membrane protein band 4.2 isoform 2						erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45561372	45561372	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45561372delA	uc001zva.2	+							NM_004212	NP_004203			solute carrier family 28 (sodium-coupled						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48744606	48744606	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48744606delT	uc001zwx.1	-						FBN1_uc010beo.1_Intron	NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49429298	49429298	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49429298delT	uc001zxf.2	-						COPS2_uc001zxh.2_Intron|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227			COP9 constitutive photomorphogenic homolog						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53901640	53901640	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53901640delG	uc002acj.2	-							NM_182758	NP_877435			WD repeat domain 72											lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54915983	54915983	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54915983delT	uc002ack.2	+						UNC13C_uc002acm.2_Intron	NM_001080534	NP_001074003			unc-13 homolog C						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55930705	55930705	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55930705delT	uc002adg.2	-							NM_173814	NP_776175			protogenin precursor						multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59359441	59359443	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59359441_59359443delTTT	uc002afv.2	+						RNF111_uc002afs.2_Intron|RNF111_uc002aft.2_Intron|RNF111_uc002afu.2_Intron|RNF111_uc002afw.2_Intron|RNF111_uc002afx.2_Intron	NM_017610	NP_060080			ring finger protein 111						multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)														---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62242755	62242756	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62242755_62242756delAA	uc002agz.2	-						VPS13C_uc002aha.2_Intron|VPS13C_uc002ahb.1_Intron|VPS13C_uc002ahc.1_Intron	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	62563040	62563040	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62563040delA								C2CD4B (105558 upstream) : MGC15885 (366331 downstream)																																			---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945625	62945626	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945625_62945626delCT	uc002alb.3	+							NM_015059	NP_055874			talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64005110	64005110	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64005110delA	uc002amp.2	-						HERC1_uc010uil.1_Intron	NM_003922	NP_003913			hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64410941	64410941	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64410941delT	uc002amv.2	+						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Intron|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Intron|SNX1_uc010bgw.2_Intron	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64422659	64422659	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64422659delA	uc002amv.2	+						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Intron|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Intron|SNX1_uc010bgw.2_Intron	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64923741	64923741	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64923741delT	uc002ann.2	+							NM_015042	NP_055857			zinc finger protein 609							nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65411613	65411613	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65411613delA	uc002aol.2	-							NM_005707	NP_005698			programmed cell death 7						apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0																		---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621076	65621076	+	3'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65621076delG	uc002aos.2	-	14					IGDCC3_uc002aor.1_3'UTR	NM_004884	NP_004875			putative neuronal cell adhesion molecule											ovary(3)	3																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70949255	70949255	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70949255delA	uc002asr.2	-	19					UACA_uc010uke.1_3'UTR|UACA_uc002asq.2_3'UTR	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70987451	70987451	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70987451delA	uc002asr.2	-						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Intron|UACA_uc010bin.1_Intron	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184328	71184328	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71184328delG	uc002asv.2	-	1	426	c.284delC	c.(283-285)CCGfs	p.P95fs	LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	95							DNA binding|metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615063	73615063	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73615063delC	uc002avp.2	-	8	4365	c.3371delG	c.(3370-3372)GGTfs	p.G1124fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1124	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311041	75311041	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75311041delT	uc002azk.1	+						SCAMP5_uc002azl.1_Intron|SCAMP5_uc002azm.1_Intron|SCAMP5_uc002azn.1_Intron|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417			secretory carrier membrane protein 5						exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1																		---	---	---	---
ISL2	64843	broad.mit.edu	37	15	76633897	76633897	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76633897delC	uc002bbw.1	+							NM_145805	NP_665804			ISL LIM homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	78189163	78189164	+	IGR	INS	-	G	G	rs148372236	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78189163_78189164insG								LINGO1 (200688 upstream) : LOC645752 (17395 downstream)																																			---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78758544	78758544	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78758544delT	uc002bdr.2	+						IREB2_uc010unb.1_Intron|IREB2_uc002bdq.2_Intron	NM_004136	NP_004127			iron-responsive element binding protein 2								4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81636087	81636090	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81636087_81636090delAAAA	uc002bgo.1	-						TMC3_uc010blr.1_Intron|TMC3_uc002bgp.2_Intron	NM_001080532	NP_001074001			transmembrane channel-like 3							integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83330894	83330895	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83330894_83330895insC	uc010uoh.1	-						AP3B2_uc010uoi.1_Intron|AP3B2_uc010uoj.1_Intron|AP3B2_uc010bmp.2_Intron|AP3B2_uc010uog.1_Intron	NM_004644	NP_004635			adaptor-related protein complex 3, beta 2						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
C15orf58	390637	broad.mit.edu	37	15	90784046	90784046	+	Intron	DEL	A	-	-	rs77298979		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90784046delA	uc002bpc.2	+							NM_001013657	NP_001013679			hypothetical protein LOC390637						glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0																		---	---	---	---
BLM	641	broad.mit.edu	37	15	91308328	91308328	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91308328delT	uc002bpr.2	+						BLM_uc010uqh.1_Intron|BLM_uc010uqi.1_Intron|BLM_uc010bnx.2_Intron|BLM_uc002bps.1_Intron	NM_000057	NP_000048			Bloom syndrome protein						double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93444561	93444561	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93444561delT	uc002bsp.2	+						CHD2_uc002bsm.1_Intron|CHD2_uc002bsn.2_Intron|CHD2_uc002bso.1_Intron	NM_001271	NP_001262			chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	97170610	97170610	+	IGR	DEL	C	-	-	rs79611327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:97170610delC								NR2F2 (287120 upstream) : SPATA8 (156069 downstream)																																			---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1612146	1612146	+	Intron	DEL	T	-	-	rs79682362		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1612146delT	uc002cmb.2	-						IFT140_uc002clz.2_Intron	NM_014714	NP_055529			intraflagellar transport 140											ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)																---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367102	3367102	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3367102delT	uc002cut.3	+						ZNF75A_uc002cuv.3_Intron	NM_153028	NP_694573			zinc finger protein 75a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12163132	12163132	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12163132delT	uc002dby.3	+						SNX29_uc010uyx.1_Intron	NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22826303	22826303	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22826303delG	uc002dli.2	+	1	444	c.372delG	c.(370-372)AAGfs	p.K124fs	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	124	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
COG7	91949	broad.mit.edu	37	16	23404439	23404439	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23404439delA	uc002dlo.2	-							NM_153603	NP_705831			component of oligomeric golgi complex 7						intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24960607	24960607	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24960607delT	uc002dnb.2	-						ARHGAP17_uc002dna.2_Intron|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_3'UTR	NM_001006634	NP_001006635			nadrin isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30492667	30492673	+	Intron	DEL	AAAAAAA	-	-	rs138296725		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30492667_30492673delAAAAAAA	uc002dyi.3	+						ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200			integrin alpha L isoform a precursor						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31094274	31094275	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31094274_31094275delCT	uc002eap.2	+							NM_014699	NP_055514			zinc finger protein 646						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46950267	46950267	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46950267delA	uc002eel.2	+						GPT2_uc002eem.2_Intron	NM_133443	NP_597700			glutamic pyruvate transaminase 2 isoform 1						2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50128483	50128484	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50128483_50128484insT	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707236	50707236	+	3'UTR	DEL	A	-	-	rs75121949	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707236delA	uc002egk.2	-	4					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274			sorting nexin 20 isoform 1						cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53705553	53705553	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53705553delA	uc002ehp.2	-						RPGRIP1L_uc002eho.3_Intron|RPGRIP1L_uc010vgy.1_Intron|RPGRIP1L_uc010cbx.2_Intron|RPGRIP1L_uc010vgz.1_Intron|RPGRIP1L_uc002ehq.1_Intron	NM_015272	NP_056087			RPGRIP1-like isoform a						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
GNAO1	2775	broad.mit.edu	37	16	56377906	56377907	+	3'UTR	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56377906_56377907insC	uc002eit.3	+	8					GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073			guanine nucleotide binding protein, alpha						dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)																---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58557157	58557157	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58557157delA	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002ent.2_Intron|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	60058501	60058501	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:60058501delT								None (None upstream) : None (None downstream)																																			---	---	---	---
CA7	766	broad.mit.edu	37	16	66886490	66886490	+	Intron	DEL	A	-	-	rs10534176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66886490delA	uc002eqi.2	+						uc002eqh.2_Intron|CA7_uc002eqj.2_Intron	NM_005182	NP_005173			carbonic anhydrase VII isoform 1						one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)														---	---	---	---
B3GNT9	84752	broad.mit.edu	37	16	67183783	67183783	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67183783delA	uc002erf.2	-	2	927	c.606delT	c.(604-606)TTTfs	p.F202fs	uc002erg.1_Frame_Shift_Del_p.L62fs	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	202	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0																		---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67231626	67231626	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67231626delT	uc002erz.2	+						ELMO3_uc002esa.2_5'Flank|ELMO3_uc002esb.2_5'Flank|ELMO3_uc002esc.2_5'Flank	NM_001950	NP_001941			E2F transcription factor 4						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68355172	68355172	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68355172delA	uc002evy.1	+						PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Intron|PRMT7_uc002evz.1_5'Flank	NM_019023	NP_061896			protein arginine methyltransferase 7						cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74336248	74336248	+	Intron	DEL	T	-	-	rs72459246		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74336248delT	uc002fcq.2	+						PSMD7_uc010vmr.1_Intron	NM_002811	NP_002802			proteasome 26S non-ATPase subunit 7						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0																		---	---	---	---
CTRB1	1504	broad.mit.edu	37	16	75256657	75256657	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75256657delC	uc002fds.2	+							NM_001906	NP_001897			chymotrypsin B1 precursor												0				BRCA - Breast invasive adenocarcinoma(221;0.166)														---	---	---	---
CENPN	55839	broad.mit.edu	37	16	81058306	81058306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81058306delT	uc002ffx.2	+						CENPN_uc010vnl.1_Intron|CENPN_uc010vnm.1_Intron|CENPN_uc002ffy.3_Intron	NM_001100624	NP_001094094			centromere protein N isoform 2						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81087885	81087886	+	Intron	DEL	AC	-	-	rs139808847	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81087885_81087886delAC	uc010chf.2	-							NM_001100873	NP_001094343			chromosome 16 open reading frame 46 isoform 1												0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81094614	81094614	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81094614delA	uc002fgc.3	-	4					C16orf46_uc010chf.2_Intron|C16orf46_uc010vno.1_3'UTR	NM_152337	NP_689550			chromosome 16 open reading frame 46 isoform 2												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	88620072	88620074	+	IGR	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88620072_88620074delAAA								ZFPM1 (18499 upstream) : ZC3H18 (16715 downstream)																																			---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88779687	88779687	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88779687delC	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2568632	2568632	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2568632delT	uc002fuw.3	+						PAFAH1B1_uc010ckb.1_Intron	NM_000430	NP_000421			platelet-activating factor acetylhydrolase,						acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1																		---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3990635	3990635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3990635delA	uc002fxe.2	-						ZZEF1_uc002fxk.1_Intron	NM_015113	NP_055928			zinc finger, ZZ type with EF hand domain 1								calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
UBE2G1	7326	broad.mit.edu	37	17	4205335	4205335	+	Intron	DEL	C	-	-	rs1866175	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4205335delC	uc002fxs.2	-							NM_003342	NP_003333			ubiquitin-conjugating enzyme E2G 1						protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0																		---	---	---	---
USP6	9098	broad.mit.edu	37	17	5044641	5044642	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5044641_5044642delAA	uc002gau.1	+						USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron	NM_004505	NP_004496			ubiquitin specific protease 6						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5238430	5238430	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5238430delT	uc002gbm.3	+						RABEP1_uc010clc.1_Intron|RABEP1_uc010cld.1_Intron|RABEP1_uc010vsw.1_Intron|RABEP1_uc002gbl.3_Intron|RABEP1_uc002gbj.2_Intron|RABEP1_uc002gbk.2_Intron	NM_004703	NP_004694			rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
RPAIN	84268	broad.mit.edu	37	17	5324587	5324588	+	Intron	DEL	TC	-	-	rs4444392	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5324587_5324588delTC	uc002gbq.2	+						NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Intron|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Intron|RPAIN_uc002gbw.2_Intron	NM_001033002	NP_001028174			RPA interacting protein isoform b						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0																		---	---	---	---
STX8	9482	broad.mit.edu	37	17	9282137	9282137	+	Intron	DEL	A	-	-	rs139246965	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9282137delA	uc002glx.2	-							NM_004853	NP_004844			syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1																		---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9488830	9488830	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9488830delA	uc002gly.2	+						WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Intron	NM_145054	NP_659491			WD40-repeat protein upregulated in HCC isoform							cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	14608988	14608988	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14608988delT								HS3ST3B1 (359496 upstream) : PMP22 (524109 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	17	16745226	16745226	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16745226delC								LOC162632 (37407 upstream) : TNFRSF13B (87623 downstream)																																			---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19684555	19684555	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19684555delC	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19719998	19719998	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19719998delA	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27249005	27249005	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27249005delA	uc002hdg.1	-						PHF12_uc010wbb.1_Intron|PHF12_uc002hdi.1_Intron|PHF12_uc002hdj.1_Intron|PHF12_uc010crw.1_Intron|PHF12_uc002hdh.1_Intron	NM_001033561	NP_001028733			PHD finger protein 12 isoform 1						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)															---	---	---	---
NF1	4763	broad.mit.edu	37	17	29559062	29559069	+	Intron	DEL	TTTTTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29559062_29559069delTTTTTTTT	uc002hgg.2	+						NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron|NF1_uc002hgi.1_Intron	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30302737	30302737	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30302737delT	uc002hgs.2	+						SUZ12_uc002hgt.2_Intron	NM_015355	NP_056170			joined to JAZF1						negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)						T	JAZF1	endometrial stromal tumours								---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30500730	30500730	+	Intron	DEL	A	-	-	rs79743579		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30500730delA	uc002hgz.2	+						RHOT1_uc002hgw.2_Intron|RHOT1_uc002hgy.2_Intron|RHOT1_uc002hha.2_Intron|RHOT1_uc010csv.2_Intron|RHOT1_uc002hgx.2_Intron|RHOT1_uc010wby.1_Intron|RHOT1_uc002hhb.2_Intron|RHOT1_uc002hgv.2_Intron	NM_018307	NP_060777			ras homolog gene family, member T1 isoform 3						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)																---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35985898	35985898	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35985898delA	uc002hoi.1	-						DDX52_uc002hoh.1_Intron	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
LOC284100	284100	broad.mit.edu	37	17	36214141	36214141	+	Intron	DEL	A	-	-	rs76035088		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36214141delA	uc002hom.1	-						LOC284100_uc002hon.1_Intron					Homo sapiens cDNA FLJ37577 fis, clone BRCOC2003513, moderately similar to 14-3-3 protein epsilon (14-3-3E).												0																		---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37111288	37111289	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37111288_37111289insT	uc002hrc.2	-							NM_001008777	NP_001008777			F-box protein 47												0																		---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37967635	37967650	+	Intron	DEL	GGAAGGAAGAAAGGAC	-	-	rs138660333	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37967635_37967650delGGAAGGAAGAAAGGAC	uc002hsu.2	-						IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Intron|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_Intron|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613			aiolos isoform 1						B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38548599	38548599	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38548599delA	uc002huq.2	-							NM_001067	NP_001058			DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)													---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40003394	40003394	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40003394delA	uc010cxr.2	+						KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40685495	40685495	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40685495delT	uc002hzv.2	+							NM_000263	NP_000254			alpha-N-acetylglucosaminidase precursor							lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
Unknown	0	broad.mit.edu	37	17	41796307	41796311	+	IGR	DEL	TTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41796307_41796311delTTTTT								MEOX1 (57045 upstream) : SOST (34788 downstream)																																			---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41958597	41958597	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41958597delG	uc010wip.1	-						MPP2_uc002ien.1_Intron|MPP2_uc010wim.1_Intron|MPP2_uc002ieo.1_Intron|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Intron	NM_005374	NP_005365			palmitoylated membrane protein 2						signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)												OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMUB2	79089	broad.mit.edu	37	17	42266286	42266289	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42266286_42266289delTTTT	uc002ifo.2	+						C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Intron|TMUB2_uc010wiu.1_Intron|TMUB2_uc002ifq.2_Intron|TMUB2_uc002ifr.2_Intron|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Intron|TMUB2_uc002ifu.2_Intron|TMUB2_uc002ifv.2_Intron|TMUB2_uc002ifw.1_Intron|TMUB2_uc002ifx.2_Intron|TMUB2_uc002ify.2_5'Flank	NM_001076674	NP_001070142			transmembrane and ubiquitin-like domain							integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
RUNDC3A	10900	broad.mit.edu	37	17	42392043	42392046	+	Intron	DEL	GGGG	-	-	rs67278675		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42392043_42392046delGGGG	uc002igl.3	+						RUNDC3A_uc002igi.2_Intron|RUNDC3A_uc002igj.2_Intron|RUNDC3A_uc002igk.2_Intron	NM_001144825	NP_001138297			RUN domain containing 3A isoform 1						small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45729935	45729935	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45729935delA	uc002ilt.1	+						KPNB1_uc010wkw.1_Intron	NM_002265	NP_002256			karyopherin beta 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133539	46133539	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46133539delT	uc002imz.3	+						NFE2L1_uc002ina.3_Intron|NFE2L1_uc002inb.3_Intron|NFE2L1_uc010wle.1_Intron|NFE2L1_uc010wlf.1_Intron|NFE2L1_uc002inc.1_Intron	NM_003204	NP_003195			nuclear factor erythroid 2-like 1						anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1																		---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46474290	46474292	+	Intron	DEL	AAA	-	-	rs148098474		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46474290_46474292delAAA	uc002ini.1	-						SKAP1_uc002inj.1_Intron|SKAP1_uc010dbd.1_Intron|SKAP1_uc010dbe.1_Intron	NM_003726	NP_003717			src kinase associated phosphoprotein 1 isoform						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0																		---	---	---	---
MYST2	11143	broad.mit.edu	37	17	47904634	47904634	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47904634delT	uc002ipm.2	+						MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Intron|MYST2_uc010wme.1_Intron|MYST2_uc010wmf.1_Intron|MYST2_uc010wmg.1_Intron	NM_007067	NP_008998			MYST histone acetyltransferase 2						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48141615	48141615	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48141615delG	uc010dbl.2	+						ITGA3_uc010dbm.2_Intron	NM_002204	NP_002195			integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48355786	48355786	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48355786delC	uc002iqn.1	+							NM_153229	NP_694961			transmembrane protein 92 precursor							integral to membrane					0																		---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52980936	52980936	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52980936delA	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54305178	54305178	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54305178delT	uc002iun.1	+						uc002iuo.2_5'Flank	NM_153228	NP_694960			ankyrin-repeat and fibronectin type III domain											large_intestine(1)|ovary(1)	2																		---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55754524	55754525	+	Intron	INS	-	TC	TC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55754524_55754525insTC	uc002iuz.1	+						MSI2_uc010wnm.1_Intron	NM_138962	NP_620412			musashi 2 isoform a							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)				T	HOXA9	CML								---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56553399	56553399	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56553399delA	uc002iwi.1	-							NM_001080439	NP_001073908			heat shock transcription factor family member 5							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	57049717	57049718	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57049717_57049718delTT	uc002iwx.2	+						PPM1E_uc010ddd.2_Intron	NM_014906	NP_055721			protein phosphatase 1E						protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)															---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57148100	57148101	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57148100_57148101delAA	uc002iwy.3	-						TRIM37_uc002iwz.3_Intron|TRIM37_uc002ixa.3_Intron|TRIM37_uc010woc.1_Intron	NM_001005207	NP_001005207			tripartite motif-containing 37 protein							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57725154	57725154	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57725154delT	uc002ixq.1	+						CLTC_uc002ixp.2_Intron|CLTC_uc002ixr.1_Intron	NM_004859	NP_004850			clathrin heavy chain 1						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59967306	59967306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59967306delT	uc002izn.2	-						INTS2_uc002izm.2_Intron	NM_020748	NP_065799			integrator complex subunit 2						snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3																		---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61888619	61888619	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61888619delA	uc002jbu.2	+						DDX42_uc002jbv.2_Intron|DDX42_uc002jbw.1_Intron|DDX42_uc002jbx.2_Intron|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398			DEAD box polypeptide 42 protein						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61913095	61913096	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61913095_61913096delTT	uc010deb.1	-						SMARCD2_uc010wpt.1_Intron|SMARCD2_uc010dea.1_Intron|SMARCD2_uc010dec.1_Intron	NM_001098426	NP_001091896			SWI/SNF-related matrix-associated						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62043618	62043618	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62043618delG	uc002jds.1	-							NM_000334	NP_000325			voltage-gated sodium channel type 4 alpha						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62474233	62474233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62474233delA	uc002jei.2	-							NM_007215	NP_009146			DNA polymerase subunit gamma-2, mitochondrial						DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64125854	64125854	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64125854delT	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64179497	64179497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64179497delA	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67124603	67124603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67124603delT	uc002jhw.1	-							NM_080284	NP_525023			ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)																	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74059913	74059915	+	Intron	DEL	CTC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74059913_74059915delCTC	uc002jqk.1	-						SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Intron	NM_014230	NP_055045			signal recognition particle 68kDa						response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1																		---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74477309	74477309	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74477309delG	uc002jrq.1	-						RHBDF2_uc002jrp.1_Intron|RHBDF2_uc002jrr.1_Intron|RHBDF2_uc010wtf.1_Intron|RHBDF2_uc002jrs.1_Intron	NM_024599	NP_078875			rhomboid, veinlet-like 6 isoform 1						negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0																		---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3272865	3272865	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3272865delT	uc010dkl.2	+						MYL12B_uc002klt.3_Intron|MYL12B_uc010wyv.1_Intron	NM_001144944	NP_001138416			myosin regulatory light chain MRCL2 isoform A						axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0																		---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8384458	8384458	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8384458delA	uc002knn.3	+						PTPRM_uc010dkv.2_Intron|PTPRM_uc010wzl.1_Intron	NM_002845	NP_002836			protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
Unknown	0	broad.mit.edu	37	18	10623852	10623852	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10623852delA								NAPG (71090 upstream) : FAM38B (47008 downstream)																																			---	---	---	---
SS18	6760	broad.mit.edu	37	18	23667438	23667438	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23667438delA	uc002kvm.2	-						SS18_uc002kvn.2_Intron|SS18_uc010xbf.1_Intron|SS18_uc010xbg.1_Intron|SS18_uc010xbh.1_Intron|SS18_uc010xbi.1_Intron|SS18_uc010dlz.1_Intron	NM_001007559	NP_001007560			synovial sarcoma translocation, chromosome 18						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28736269	28736270	+	Intron	INS	-	AC	AC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28736269_28736270insAC	uc002kwn.2	-						DSC1_uc002kwm.2_Intron	NM_024421	NP_077739			desmocollin 1 isoform Dsc1a preproprotein						homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)															---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29796832	29796834	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29796832_29796834delAAA	uc002kxj.3	+							NM_005925	NP_005916			meprin A beta precursor						digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30260121	30260121	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30260121delA	uc002kxm.1	-						KLHL14_uc010dmd.1_Intron	NM_020805	NP_065856			kelch-like 14							cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31241532	31241532	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31241532delA	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33289488	33289488	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33289488delA	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33800306	33800309	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33800306_33800309delAAAA	uc002kzq.3	+							NM_017947	NP_060417			molybdenum cofactor sulfurase						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43437680	43437681	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43437680_43437681delTT	uc002lbm.2	-							NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43702272	43702273	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43702272_43702273delAA	uc002lbu.2	+						HAUS1_uc002lbv.2_Intron	NM_138443	NP_612452			coiled-coil domain containing 5						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1																		---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278334	54278334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54278334delA	uc002lgg.2	-						TXNL1_uc010xdz.1_Intron|TXNL1_uc002lgh.2_Intron|TXNL1_uc002lgi.2_Intron|TXNL1_uc002lgj.1_Intron	NM_004786	NP_004777			thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
Unknown	0	broad.mit.edu	37	18	57429216	57429218	+	IGR	DEL	AAG	-	-	rs141641247	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57429216_57429218delAAG								CCBE1 (64572 upstream) : PMAIP1 (137974 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	18	58330371	58330371	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58330371delC								MC4R (290370 upstream) : CDH20 (670617 downstream)																																			---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61459834	61459834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61459834delA	uc002ljl.2	+						SERPINB7_uc002ljm.2_Intron|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Intron	NM_001040147	NP_001035237			serine (or cysteine) proteinase inhibitor, clade						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66503864	66503867	+	Intron	DEL	AAAT	-	-	rs71369199	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66503864_66503867delAAAT	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron|CCDC102B_uc002lkj.1_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67807195	67807195	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67807195delA	uc002lkp.2	-						RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron	NM_173630	NP_775901			rotatin								binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70423460	70423460	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70423460delA	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71825155	71825155	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71825155delT	uc010dqr.1	+							NM_014177	NP_054896			hypothetical protein LOC29090 precursor						protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
PARD6G	84552	broad.mit.edu	37	18	77960837	77960837	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77960837delG	uc002lny.2	-						PARD6G_uc010xfp.1_Intron	NM_032510	NP_115899			PAR-6 gamma protein						cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)														---	---	---	---
HCN2	610	broad.mit.edu	37	19	613828	613828	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:613828delC	uc002lpe.2	+							NM_001194	NP_001185			hyperpolarization activated cyclic						cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
FGF22	27006	broad.mit.edu	37	19	643528	643528	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:643528delG	uc010xfq.1	+	3	437	c.437delG	c.(436-438)AGGfs	p.R146fs	FGF22_uc010xfr.1_Frame_Shift_Del_p.E138fs	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	146					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PRTN3	5657	broad.mit.edu	37	19	843449	843449	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:843449delC	uc002lqa.1	+							NM_002777	NP_002768			myeloblastin						collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2873789	2873789	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2873789delA	uc002lwp.1	+						ZNF556_uc002lwq.2_Intron	NM_024967	NP_079243			zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5278195	5278200	+	Intron	DEL	AAAAAA	-	-	rs147296585		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5278195_5278200delAAAAAA	uc002mbv.2	-						PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Intron|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron|PTPRS_uc002mbz.1_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8151014	8151014	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8151014delG	uc002mjf.2	-						FBN3_uc002mje.2_Intron	NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8176750	8176750	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8176750delC	uc002mjf.2	-							NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
ZNF699	374879	broad.mit.edu	37	19	9408812	9408812	+	Intron	DEL	T	-	-	rs144670815		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9408812delT	uc002mlc.1	-							NM_198535	NP_940937			zinc finger protein 699						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9931194	9931194	+	5'Flank	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9931194delA	uc002mme.2	-						FBXL12_uc002mmd.2_5'Flank|FBXL12_uc002mmf.2_5'Flank|FBXL12_uc002mmg.2_5'Flank|FBXL12_uc002mmh.2_Intron	NM_017703	NP_060173			F-box and leucine-rich repeat protein 12								protein binding			lung(1)|kidney(1)	2																		---	---	---	---
MRPL4	51073	broad.mit.edu	37	19	10369015	10369015	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10369015delG	uc002mnm.2	+						MRPL4_uc002mnn.2_Intron|MRPL4_uc002mno.2_Intron	NM_146387	NP_666499			mitochondrial ribosomal protein L4 isoform a						translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)														---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13445408	13445411	+	Intron	DEL	TGTG	-	-	rs138143360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13445408_13445411delTGTG	uc010dze.2	-						CACNA1A_uc002mwy.3_Intron	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17119514	17119514	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17119514delA	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17294680	17294681	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17294680_17294681delAA	uc010eak.2	+						MYO9B_uc002nfi.2_Intron|MYO9B_uc002nfj.1_Intron	NM_004145	NP_004136			myosin IXB isoform 1						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337542	17337542	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17337542delC	uc002nfp.2	+	2	112	c.110delC	c.(109-111)GCCfs	p.A37fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273703	18273703	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18273703delA	uc002nia.1	+						PIK3R2_uc002nib.1_Intron|PIK3R2_uc010ebi.1_Intron	NM_005027	NP_005018			phosphoinositide-3-kinase, regulatory subunit 2						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20294985	20294985	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20294985delT	uc002nou.2	+							NM_052852	NP_443084			zinc finger protein 486						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	19	21823295	21823295	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21823295delT								ZNF429 (84227 upstream) : ZNF100 (83549 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	19	24116780	24116780	+	Intron	DEL	A	-	-	rs35012860		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24116780delA	uc002nrp.1	-											Homo sapiens cDNA FLJ43698 fis, clone TCERX2000998.																														---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36332583	36332583	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36332583delC	uc002oby.2	-						NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637			nephrin precursor						cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37917100	37917100	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37917100delA	uc002ogi.2	-						ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Intron	NM_152484	NP_689697			zinc finger protein 569						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40384321	40384324	+	Intron	DEL	AGAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40384321_40384324delAGAA	uc002omp.3	-							NM_003890	NP_003881			Fc fragment of IgG binding protein precursor							extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096142	41096142	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41096142delC	uc002oob.2	+						SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Intron|SHKBP1_uc002ooe.2_Intron|SHKBP1_uc002oof.2_Intron|SHKBP1_uc010xvm.1_Intron|SHKBP1_uc010xvn.1_Intron|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401			SH3KBP1 binding protein 1							voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42824786	42824786	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42824786delT	uc002otk.1	+							NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45315356	45315357	+	Intron	INS	-	AG	AG			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45315356_45315357insAG	uc002ozu.2	+						BCAM_uc002ozt.1_Intron	NM_005581	NP_005572			basal cell adhesion molecule isoform 1						cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46177864	46177865	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46177864_46177865delAA	uc002pcu.1	+						GIPR_uc002pct.1_Intron|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_Intron|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155			gastric inhibitory polypeptide receptor						generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)														---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197715	48197715	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48197715delC	uc002phh.3	+	8	2821	c.2627delC	c.(2626-2628)GCCfs	p.A876fs	GLTSCR1_uc002phi.3_Frame_Shift_Del_p.A634fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	876							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48654327	48654328	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48654327_48654328delAA	uc002pia.1	-						LIG1_uc010xze.1_Intron|LIG1_uc002phz.1_Intron|LIG1_uc002pib.1_Intron|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225			DNA ligase I						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50123757	50123757	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50123757delG	uc002poo.3	+							NM_020719	NP_065770			proline rich 12								DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51853743	51853743	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51853743delT	uc002pwh.2	-						ETFB_uc002pwg.2_Intron	NM_001985	NP_001976			electron-transfer-flavoprotein, beta polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52468066	52468066	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52468066delT	uc002pyd.2	-	5					uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645			zinc finger protein 350						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52819262	52819262	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52819262delT	uc010ydl.1	+						ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Intron|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285			zinc finger protein 480						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	55212296	55212296	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55212296delA								LILRB4 (32452 upstream) : LILRP2 (7305 downstream)																																			---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55397026	55397027	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55397026_55397027insA	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55446085	55446086	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55446085_55446086delTT	uc002qih.3	-						NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Intron|NLRP7_uc010esk.2_Intron|NLRP7_uc010esl.2_Intron	NM_206828	NP_996611			NACHT, leucine rich repeat and PYD containing 7								ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58512233	58512233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58512233delA	uc002qqw.2	-						ZNF606_uc010yhp.1_Intron|ZNF606_uc002qqx.1_Intron|uc002qqy.1_5'Flank|uc002qqz.1_5'Flank	NM_025027	NP_079303			zinc finger protein 606						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
Unknown	0	broad.mit.edu	37	20	2056532	2056532	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2056532delA								PDYN (81829 upstream) : STK35 (25996 downstream)																																			---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2777466	2777466	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2777466delG	uc002wgu.2	-						CPXM1_uc010gas.2_Intron	NM_019609	NP_062555			carboxypeptidase X, member 1 precursor						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17208173	17208174	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17208173_17208174insG	uc002wpm.2	+						PCSK2_uc002wpl.2_Intron|PCSK2_uc010zrm.1_Intron	NM_002594	NP_002585			proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18505351	18505351	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18505351delT	uc002wqz.1	+						SEC23B_uc002wra.1_Intron|SEC23B_uc002wrb.1_Intron|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Intron	NM_006363	NP_006354			Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21338218	21338218	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21338218delT	uc002wsf.1	+						XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_Intron	NM_012255	NP_036387			5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
CST9	128822	broad.mit.edu	37	20	23586076	23586076	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23586076delA	uc002wtl.2	-							NM_001008693	NP_001008693			cystatin 9 precursor							extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)																	---	---	---	---
Unknown	0	broad.mit.edu	37	20	29930733	29930733	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29930733delT								DEFB116 (34345 upstream) : DEFB118 (25695 downstream)																																			---	---	---	---
C20orf185	359710	broad.mit.edu	37	20	31661235	31661235	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31661235delT	uc002wym.1	+							NM_182658	NP_872599			antimicrobial peptide RYA3 precursor						innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4																		---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32199335	32199335	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32199335delT	uc002wzg.1	+						CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Intron|CBFA2T2_uc002wzf.1_Intron|CBFA2T2_uc002wzh.1_Intron|CBFA2T2_uc002wzi.1_Intron|CBFA2T2_uc002wzj.1_Intron	NM_005093	NP_005084			core-binding factor, runt domain, alpha subunit							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2																		---	---	---	---
MIR644	693229	broad.mit.edu	37	20	33054129	33054130	+	RNA	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33054129_33054130insT	hsa-mir-644|MI0003659	+						ITCH_uc002xak.2_Intron|ITCH_uc010geu.1_Intron|ITCH_uc010zuj.1_Intron																	0																		---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34766817	34766817	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34766817delA	uc002xfb.2	+						EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.2_Intron|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288			erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)																	---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35349930	35349931	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35349930_35349931insA	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36361416	36361416	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36361416delA	uc010zvw.1	+	2	257	c.166delA	c.(166-168)AAAfs	p.K56fs	CTNNBL1_uc010zvv.1_Frame_Shift_Del_p.K29fs	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	56					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---
KIAA0406	9675	broad.mit.edu	37	20	36625458	36625458	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36625458delA	uc002xhl.2	-						KIAA0406_uc002xhm.2_Intron	NM_014657	NP_055472			hypothetical protein LOC9675								binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40120107	40120107	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40120107delA	uc002xka.1	-						CHD6_uc002xkd.2_Intron	NM_032221	NP_115597			chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306344	41306344	+	Intron	DEL	C	-	-	rs2425514	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:41306344delC	uc002xkg.2	-						PTPRT_uc010ggj.2_Intron	NM_007050	NP_008981			protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43138337	43138337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43138337delT	uc002xme.2	-						SERINC3_uc002xmf.1_Intron|SERINC3_uc010ggs.1_Intron|SERINC3_uc010zwp.1_Intron	NM_198941	NP_945179			tumor differentially expressed protein 1							integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45789429	45789430	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45789429_45789430delTT	uc002xsm.2	+						EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Intron|EYA2_uc002xso.2_Intron|EYA2_uc002xsp.2_Intron|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235			eyes absent 2 isoform a						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)																---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52570374	52570374	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52570374delA	uc002xws.2	-						BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648			breast carcinoma amplified sequence 1							cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57598688	57598688	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57598688delG	uc002yak.2	+							NM_030773	NP_110400			beta tubulin 1, class VI						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)													---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62074016	62074021	+	Intron	DEL	CACCAC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62074016_62074021delCACCAC	uc002yey.1	-						KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron	NM_172107	NP_742105			potassium voltage-gated channel KQT-like protein						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
USP25	29761	broad.mit.edu	37	21	17250893	17250894	+	3'UTR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17250893_17250894insT	uc002yjy.1	+	24					USP25_uc011aby.1_3'UTR|USP25_uc002yjz.1_3'UTR|USP25_uc010gla.1_3'UTR	NM_013396	NP_037528			ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112407	21112408	+	IGR	DEL	GA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112407_21112408delGA								None (None upstream) : None (None downstream)																																			---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647023	33647023	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647023delT	uc002ypi.2	-						C21orf45_uc011adn.1_Intron	NM_018944	NP_061817			chromosome 21 open reading frame 45						cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34017084	34017084	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34017084delA	uc002yqh.2	-						SYNJ1_uc011ads.1_Intron|SYNJ1_uc002yqf.2_Intron|SYNJ1_uc002yqg.2_Intron|SYNJ1_uc002yqi.2_Intron|SYNJ1_uc002yqe.3_5'Flank	NM_003895	NP_003886			synaptojanin 1 isoform a								inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43541382	43541382	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43541382delT	uc002zaf.1	+						UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc002zal.1_Intron	NM_001004416	NP_001004416			uromodulin-like 1 isoform 1 precursor							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44118958	44118958	+	Intron	DEL	T	-	-	rs1515755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44118958delT	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44514504	44514504	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44514504delT	uc002zda.1	-						U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_Intron|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_3'UTR	NM_001025203	NP_001020374			U2 small nuclear RNA auxillary factor 1 isoform						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47862398	47862398	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47862398delT	uc002zji.3	+						PCNT_uc002zjj.2_Intron	NM_006031	NP_006022			pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
Unknown	0	broad.mit.edu	37	22	16353835	16353835	+	IGR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16353835delG								POTEH (65898 upstream) : OR11H1 (94991 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	22	16419352	16419352	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16419352delT								POTEH (131415 upstream) : OR11H1 (29474 downstream)																																			---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23744282	23744282	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23744282delG	uc002zxa.3	-						ZDHHC8P1_uc002zxb.3_RNA|ZDHHC8P1_uc002zwz.3_Intron	NR_003950				Homo sapiens cDNA FLJ31568 fis, clone NT2RI2001595.												0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26043916	26043917	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26043916_26043917delAA	uc003abx.3	+						ADRBK2_uc010gux.2_Intron|ADRBK2_uc003abw.2_Intron|ADRBK2_uc003aby.3_Intron	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31985386	31985386	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31985386delA	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
C22orf30	253143	broad.mit.edu	37	22	32084257	32084257	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32084257delT	uc003alp.3	-						C22orf30_uc003alo.1_Intron|C22orf30_uc010gwj.1_Intron	NM_173566	NP_775837			hypothetical protein LOC253143												0																		---	---	---	---
BPIL2	254240	broad.mit.edu	37	22	32812067	32812070	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32812067_32812070delTTTT	uc003amn.2	-						BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592			bactericidal/permeability-increasing							extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2																		---	---	---	---
SOX10	6663	broad.mit.edu	37	22	38370364	38370365	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38370364_38370365insT	uc003aun.1	-						POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Intron	NM_006941	NP_008872			SRY (sex determining region Y)-box 10							cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)																	---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38934201	38934201	+	Intron	DEL	A	-	-	rs66487664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38934201delA	uc003avz.1	-						DMC1_uc011anv.1_Intron	NM_007068	NP_008999			DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40444759	40444760	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40444759_40444760insA	uc003aym.2	+							NM_001024843	NP_001020014			trinucleotide repeat containing 6B isoform 3						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40696634	40696634	+	Intron	DEL	T	-	-	rs77607132		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40696634delT	uc011aor.1	+						TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Intron|TNRC6B_uc003ayo.2_Intron	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40719315	40719315	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40719315delT	uc011aor.1	+	23					TNRC6B_uc003aym.2_3'UTR|TNRC6B_uc003ayn.3_3'UTR	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086002	47086002	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086002delC	uc003bia.2	-	12	1535	c.1428delG	c.(1426-1428)GGGfs	p.G476fs	CERK_uc010hae.2_Frame_Shift_Del_p.G278fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	476					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
ARSA	410	broad.mit.edu	37	22	51063611	51063611	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)													---	---	---	---
FAM9B	171483	broad.mit.edu	37	X	8993426	8993426	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8993426delA	uc011mhu.1	-						FAM9B_uc011mhv.1_Intron|FAM9B_uc004csh.2_Intron	NM_205849	NP_995321			family with sequence similarity 9, member B							nucleus					0		Hepatocellular(5;0.219)																---	---	---	---
TBL1X	6907	broad.mit.edu	37	X	9665481	9665481	+	Intron	DEL	G	-	-	rs72612809	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:9665481delG	uc010ndq.2	+						TBL1X_uc004csq.3_Intron|TBL1X_uc010ndr.2_Intron|TBL1X_uc004csr.2_Intron|TBL1X_uc004css.2_Intron	NM_001139466	NP_001132938			transducin beta-like 1X isoform a						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)																---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12414136	12414136	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12414136delT	uc004cuz.1	+						FRMPD4_uc011mij.1_Intron	NM_014728	NP_055543			FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645058	13645058	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645058delT	uc004cvi.2	+						EGFL6_uc004cvj.2_Intron	NM_015507	NP_056322			epidermal growth factor-like protein 6						cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16867569	16867569	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16867569delT	uc004cxt.2	-						RBBP7_uc004cxs.1_Intron|RBBP7_uc004cxu.2_Intron	NM_002893	NP_002884			retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18275212	18275212	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18275212delA	uc004cyl.2	-						SCML2_uc004cyk.3_Intron|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080			sex comb on midleg-like 2						anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	26523591	26523591	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26523591delA								MAGEB6 (309829 upstream) : VENTXP1 (52863 downstream)																																			---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29301000	29301000	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:29301000delT	uc004dby.2	+							NM_014271	NP_055086			interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31144834	31144834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31144834delA	uc004dda.1	-						DMD_uc004dcq.1_Intron|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Intron|DMD_uc004dcu.1_Intron|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc004dcm.1_Intron|DMD_uc004dcn.1_Intron|DMD_uc004dco.1_Intron|DMD_uc004dcp.1_Intron|DMD_uc011mkb.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
CXorf30	645090	broad.mit.edu	37	X	36392862	36392862	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:36392862delT	uc011mkc.1	+							NM_001098843	NP_001092313			hypothetical protein LOC645090											lung(2)|breast(1)	3																		---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38144668	38144668	+	3'UTR	DEL	T	-	-	rs66997072		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38144668delT	uc004ded.1	-	15					RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025			retinitis pigmentosa GTPase regulator isoform C						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40540221	40540221	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40540221delA	uc004dex.3	-							NM_004229	NP_004220			mediator complex subunit 14						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
MAOA	4128	broad.mit.edu	37	X	43572141	43572141	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43572141delA	uc004dfy.2	+						MAOA_uc011mkw.1_Intron	NM_000240	NP_000231			monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)													---	---	---	---
PHF16	9767	broad.mit.edu	37	X	46884358	46884358	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46884358delT	uc004dgx.2	+						PHF16_uc004dgy.2_Intron	NM_001077445	NP_001070913			PHD finger protein 16						histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48297697	48297697	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48297697delA								SSX4 (44912 upstream) : SLC38A5 (19231 downstream)																																			---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48372756	48372756	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48372756delG	uc010nie.1	+						PORCN_uc004djr.1_Intron|PORCN_uc004djs.1_Intron|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Intron|PORCN_uc004djw.1_Intron	NM_203475	NP_982301			porcupine isoform D						Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48635377	48635378	+	IGR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48635377_48635378insA								GLOD5 (3315 upstream) : GATA1 (9604 downstream)																																			---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52681587	52681587	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52681587delA	uc004dqx.1	-							NM_173358	NP_775494			synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)																	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53285127	53285127	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64751477	64751477	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64751477delA	uc004dwa.1	-						LAS1L_uc004dwc.1_Intron|LAS1L_uc004dwd.1_Intron	NM_031206	NP_112483			LAS1-like							MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70626407	70626407	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70626407delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron|TAF1_uc004dzv.3_Intron|TAF1_uc010nld.1_5'Flank|TAF1_uc010nle.1_5'Flank|TAF1_uc010nlf.1_5'Flank|TAF1_uc004dzx.2_5'Flank|TAF1_uc004dzy.2_5'Flank	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
Unknown	0	broad.mit.edu	37	X	71492424	71492424	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71492424delA								PIN4 (7612 upstream) : RPS4X (30 downstream)																																			---	---	---	---
ATRX	546	broad.mit.edu	37	X	76763680	76763680	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76763680delA	uc004ecp.3	-	35					ATRX_uc004ecq.3_3'UTR|ATRX_uc004eco.3_3'UTR	NM_000489	NP_000480			transcriptional regulator ATRX isoform 1						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
Unknown	0	broad.mit.edu	37	X	81762218	81762218	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:81762218delT								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	83996004	83996004	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83996004delT								HDX (238546 upstream) : UBE2DNL (193153 downstream)																																			---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100383497	100383497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100383497delA	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106066802	106066802	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106066802delT	uc004emo.2	+						MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Intron|TBC1D8B_uc004emn.2_Intron	NM_017752	NP_060222			TBC1 domain family, member 8B (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109441522	109441522	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109441522delA	uc004eoo.2	-	6					AMMECR1_uc004eop.2_3'UTR|AMMECR1_uc004eoq.2_3'UTR	NM_015365	NP_056180			AMMECR1 protein isoform 1												0																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	110035534	110035534	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110035534delA	uc004eou.3	-						CHRDL1_uc004eov.2_5'Flank|CHRDL1_uc004eow.2_Intron|CHRDL1_uc010nps.2_Intron|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Intron	NM_001143981	NP_001137453			chordin-like 1 isoform 1 precursor						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110506864	110506864	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110506864delA	uc004epc.1	-						CAPN6_uc011msu.1_Intron	NM_014289	NP_055104			calpain 6						microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114877477	114877477	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114877477delT	uc004eqd.2	+						PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Intron|PLS3_uc004eqe.2_Intron|PLS3_uc011mtg.1_Intron|PLS3_uc011mth.1_Intron|PLS3_uc011mti.1_Intron|PLS3_uc011mtj.1_Intron|PLS3_uc011mtk.1_5'Flank|PLS3_uc011mtl.1_5'Flank	NM_005032	NP_005023			plastin 3							cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115303402	115303402	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115303402delT	uc004eqh.3	+							NM_000686	NP_000677			angiotensin II receptor, type 2						behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117527389	117527389	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117527389delA	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119387139	119387139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119387139delA	uc004esn.1	+						ZBTB33_uc010nqm.1_Intron	NM_006777	NP_006768			kaiso						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119580473	119580474	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119580473_119580474delAA	uc004est.3	-						LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Intron|LAMP2_uc010nqp.1_Intron	NM_002294	NP_002285			lysosomal-associated membrane protein 2 isoform						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1																		---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129204831	129204831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129204831delG	uc004evd.3	-						ELF4_uc004eve.3_Intron	NM_001421	NP_001412			E74-like factor 4						natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1								T	ERG	AML								---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132897776	132897776	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132897776delA	uc004exe.1	-						GPC3_uc010nrn.1_Intron|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_Intron	NM_004484	NP_004475			glypican 3 isoform 2 precursor							extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)							T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	X	133406914	133406914	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133406914delA								CCDC160 (27108 upstream) : PHF6 (100428 downstream)																																			---	---	---	---
HPRT1	3251	broad.mit.edu	37	X	133609078	133609078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133609078delT	uc004exl.3	+						HPRT1_uc010nrs.2_Intron	NM_000194	NP_000185			hypoxanthine phosphoribosyltransferase 1						adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity				0	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)													---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134683426	134683426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134683426delT	uc004eyw.3	+							NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135046953	135046954	+	3'UTR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135046953_135046954insA	uc004ezi.1	-	4					MMGT1_uc011mvw.1_3'UTR	NM_173470	NP_775741			membrane magnesium transporter 1 precursor							early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1273615	1273615	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1273615delC	uc001aer.3	-						DVL1_uc002quu.2_Intron|DVL1_uc009vka.2_Intron|DVL1_uc001aeu.1_Intron	NM_004421	NP_004412			dishevelled 1						canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290110delG	uc001aew.2	-	5	932	c.901delC	c.(901-903)CGGfs	p.R301fs	MXRA8_uc001aex.3_Frame_Shift_Del_p.R301fs|MXRA8_uc001aey.3_Frame_Shift_Del_p.R301fs|MXRA8_uc010nyl.1_Frame_Shift_Del_p.R301fs|MXRA8_uc001aez.2_Frame_Shift_Del_p.R200fs|MXRA8_uc001afa.2_Frame_Shift_Del_p.R292fs	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290607	1290607	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290607delG	uc001aew.2	-						MXRA8_uc001aex.3_Intron|MXRA8_uc001aey.3_Intron|MXRA8_uc010nyl.1_Intron|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Intron	NM_032348	NP_115724			matrix-remodelling associated 8 precursor							integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6894337	6894337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6894337delT	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187619	11187619	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187619delT	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11314203	11314203	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11314203delT	uc001asd.2	-							NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MST1P9	11223	broad.mit.edu	37	1	17086003	17086003	+	Frame_Shift_Del	DEL	G	-	-	rs3982176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17086003delG	uc010ock.1	-	7	894	c.894delC	c.(892-894)GGCfs	p.G298fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	NR_002729				SubName: Full=Hepatocyte growth factor-like protein homolog;												0																		---	---	---	---
PLA2G2D	26279	broad.mit.edu	37	1	20441897	20441897	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20441897delA	uc001bcz.2	-						PLA2G2D_uc009vpo.2_Intron	NM_012400	NP_036532			phospholipase A2, group IID precursor						inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)											Multiple Myeloma(11;0.12)			---	---	---	---
TMEM50A	23585	broad.mit.edu	37	1	25679545	25679545	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25679545delT	uc001bke.2	+						TMEM50A_uc010oeq.1_Intron|TMEM50A_uc009vrr.2_Intron|TMEM50A_uc009vrs.2_Intron	NM_014313	NP_055128			small membrane protein 1							endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)														---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26624607	26624608	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26624607_26624608insG	uc001blw.2	-						UBXN11_uc001blz.1_Intron|UBXN11_uc001blv.2_Intron|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Intron|UBXN11_uc001bmb.1_Intron|UBXN11_uc010ofb.1_Intron|UBXN11_uc010ofc.1_Intron	NM_183008	NP_892120			socius isoform 2							cytoplasm|cytoskeleton				ovary(1)	1																		---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	-	-	rs140055856		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105931delG	uc001bmv.1	+	20	5915	c.5542delG	c.(5542-5544)GGGfs	p.G1848fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1631fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G694fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G176fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G90fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1848					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
TAF12	6883	broad.mit.edu	37	1	28929962	28929963	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28929962_28929963delAA	uc001bqw.2	-	5					TAF12_uc001bqx.2_3'UTR|TAF12_uc001bqy.2_3'UTR	NM_005644	NP_005635			TAF12 RNA polymerase II, TATA box binding						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38170966	38170966	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38170966delT	uc001cbr.2	+						CDCA8_uc001cbs.2_Intron|CDCA8_uc010oih.1_Intron	NM_018101	NP_060571			cell division cycle associated 8						cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
SF3A3	10946	broad.mit.edu	37	1	38446098	38446099	+	Intron	DEL	AA	-	-	rs113844754		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38446098_38446099delAA	uc001cci.2	-						SF3A3_uc010oik.1_Intron	NM_006802	NP_006793			splicing factor 3a, subunit 3						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40767618	40767618	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40767618delT	uc001cfh.1	-						COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843			alpha 2 type IX collagen precursor						axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)															---	---	---	---
SCMH1	22955	broad.mit.edu	37	1	41617396	41617397	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41617396_41617397insA	uc001cgo.2	-						SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Intron|SCMH1_uc001cgr.2_Intron|SCMH1_uc001cgs.2_Intron|SCMH1_uc001cgt.2_Intron|SCMH1_uc001cgq.2_Intron|SCMH1_uc010ojs.1_Intron	NM_001031694	NP_001026864			sex comb on midleg 1 isoform 1						anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)																---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44421863	44421863	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44421863delT	uc001ckx.2	+							NM_014652	NP_055467			importin 13						protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45111159	45111162	+	Splice_Site	DEL	AAGT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45111159_45111162delAAGT	uc001clv.1	+	12	1805	c.1445_splice	c.e12+1	p.K482_splice	RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620			ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	45287583	45287583	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45287583delA								BTBD19 (7782 upstream) : PTCH2 (505 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	1	51662882	51662882	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51662882delA								C1orf185 (49130 upstream) : RNF11 (39063 downstream)																																			---	---	---	---
TXNDC12	51060	broad.mit.edu	37	1	52520880	52520880	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52520880delT	uc001cti.2	-	1					BTF3L4_uc001ctk.2_5'Flank|BTF3L4_uc001ctl.2_5'Flank|BTF3L4_uc010onh.1_5'Flank	NM_015913	NP_056997			thioredoxin domain containing 12 precursor						activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1																		---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52923972	52923972	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52923972delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc009vze.1_Intron|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cua.1_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53287093	53287093	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53287093delT	uc001cuj.2	+						ZYG11B_uc010onj.1_Intron|ZYG11B_uc009vzh.2_Intron	NM_024646	NP_078922			zyg-11 homolog B								protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55573113	55573113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55573113delA	uc001cyg.3	-							NM_015306	NP_056121			ubiquitin specific protease 24						ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57189194	57189194	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57189194delT	uc001cym.3	-						C1orf168_uc001cyl.2_Intron	NM_001004303	NP_001004303			hypothetical protein LOC199920											ovary(3)|skin(2)	5																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62271102	62271102	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62271102delT	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_5'Flank	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62380193	62380193	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62380193delA	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_Intron	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64033964	64033964	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64033964delT	uc001dbf.2	+							NM_032437	NP_115813			EF-hand calcium binding domain 7								calcium ion binding				0																		---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67206270	67206270	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67206270delA	uc001dcr.2	+						SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Intron|SGIP1_uc001dcu.2_Intron	NM_032291	NP_115667			SH3-domain GRB2-like (endophilin) interacting						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70616970	70616970	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70616970delA	uc001der.1	-							NM_017768	NP_060238			leucine rich repeat containing 40											ovary(1)	1																		---	---	---	---
ANKRD13C	81573	broad.mit.edu	37	1	70766400	70766400	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70766400delT	uc001dex.3	-						ANKRD13C_uc009wbk.2_Intron	NM_030816	NP_110443			ankyrin repeat domain 13C						protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78188044	78188044	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78188044delA	uc001dht.2	-						USP33_uc001dhs.2_Intron|USP33_uc001dhu.2_Intron|USP33_uc001dhv.2_Intron|USP33_uc001dhw.2_Intron	NM_015017	NP_055832			ubiquitin specific protease 33 isoform 1						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84986284	84986284	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84986284delT	uc001djz.1	+	3	318	c.119delT	c.(118-120)GTTfs	p.V40fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.V40fs|SPATA1_uc001djy.1_RNA	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84991354	84991354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84991354delT	uc001djz.1	+						SPATA1_uc001djx.2_Intron|SPATA1_uc001djy.1_Intron	NM_001081472	NP_001074941			spermatogenesis associated 1											central_nervous_system(1)	1				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)														---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020568	85020568	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020568delT	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85417779	85417779	+	Intron	DEL	G	-	-	rs679961	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85417779delG	uc001dkm.2	-						MCOLN2_uc001dkn.2_Intron	NM_153259	NP_694991			mucolipin 2							integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92430468	92430470	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92430468_92430470delTTT	uc001dok.3	+						BRDT_uc001dol.3_Intron|BRDT_uc010osz.1_Intron|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Intron	NM_207189	NP_997072			testis-specific bromodomain protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447354	92447354	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92447354delT	uc001dok.3	+						BRDT_uc001dol.3_Intron|BRDT_uc010osz.1_Intron|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Intron	NM_207189	NP_997072			testis-specific bromodomain protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92568324	92568324	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92568324delT	uc001doo.2	+						BTBD8_uc010otc.1_Intron	NM_183242	NP_899065			BTB (POZ) domain containing 8							nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)														---	---	---	---
DR1	1810	broad.mit.edu	37	1	93826012	93826012	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93826012delA	uc001dpu.2	+						DR1_uc010otj.1_Intron	NM_001938	NP_001929			down-regulator of transcription 1						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity				0		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)														---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94685958	94685959	+	Intron	INS	-	A	A	rs149426255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94685958_94685959insA	uc001dqj.3	-						ARHGAP29_uc009wdq.1_Intron|ARHGAP29_uc001dql.2_Intron	NM_004815	NP_004806			PTPL1-associated RhoGAP 1						Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)														---	---	---	---
F3	2152	broad.mit.edu	37	1	95001871	95001871	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95001871delT	uc001dqr.2	-						F3_uc001dqp.2_Intron|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984			coagulation factor III precursor						activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)													---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98157374	98157374	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:98157374delA	uc001drv.2	-						DPYD_uc010oub.1_Intron	NM_000110	NP_000101			dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107691083	107691083	+	5'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107691083delA	uc001dvh.3	+	2					NTNG1_uc001dvf.3_5'UTR|NTNG1_uc010out.1_5'UTR|NTNG1_uc001dvc.3_5'UTR|NTNG1_uc001dvd.1_5'UTR	NM_001113226	NP_001106697			netrin G1 isoform 1						axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108315260	108315260	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:108315260delA	uc001dvk.1	-						VAV3_uc010ouw.1_Intron|VAV3_uc001dvl.1_Intron|VAV3_uc010oux.1_Intron	NM_006113	NP_006104			vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114414022	114414022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114414022delT	uc001eds.2	-						uc001edv.1_Intron|PTPN22_uc009wgq.2_Intron|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Intron|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Intron	NM_015967	NP_057051			protein tyrosine phosphatase, non-receptor type						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114976131	114976131	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114976131delA	uc001eew.2	-						TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120510373	120510373	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120510373delT	uc001eik.2	-						NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron	NM_024408	NP_077719			notch 2 preproprotein						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)				N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144855333	144855334	+	Intron	INS	-	G	G	rs112069674		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144855333_144855334insG	uc001elw.3	-						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Intron	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
GPR89A	653519	broad.mit.edu	37	1	145764599	145764599	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145764599delA	uc001eot.2	-	14					NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_3'UTR|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_3'UTR|GPR89A_uc010ozb.1_3'UTR|GPR89A_uc001eos.2_3'UTR|GPR89A_uc010ozc.1_3'UTR|GPR89A_uc010ozd.1_3'UTR	NM_001097612	NP_001091081			G protein-coupled receptor 89A isoform 1						intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)															---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146739195	146739195	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146739195delC	uc001epm.3	+						uc001epp.2_Intron|CHD1L_uc001epn.3_Intron|CHD1L_uc010ozo.1_Intron|CHD1L_uc009wjg.2_Intron|CHD1L_uc009wjh.2_Intron|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron|CHD1L_uc010ozq.1_Intron|CHD1L_uc009wji.2_Intron	NM_004284	NP_004275			chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149899306	149899306	+	Intron	DEL	A	-	-	rs75973795		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149899306delA	uc001etj.1	-						SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Intron|SF3B4_uc009wll.1_Intron	NM_005850	NP_005841			splicing factor 3b, subunit 4							nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
BNIPL	149428	broad.mit.edu	37	1	151010862	151010862	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151010862delA	uc001ewl.2	+						BNIPL_uc009wmi.2_Intron|BNIPL_uc009wmj.2_5'Flank	NM_138278	NP_612122			BCL2/adenovirus E1B 19kD interacting protein						apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151079397	151079397	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151079397delT	uc001ewr.2	+						GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219			GA repeat binding protein, beta 2						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)														---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154215938	154215938	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154215938delT	uc001fep.3	+						UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_Intron|UBAP2L_uc010pel.1_Intron|UBAP2L_uc010pen.1_Intron	NM_014847	NP_055662			ubiquitin associated protein 2-like isoform a						binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155695905	155695907	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155695905_155695907delTTT	uc001flq.2	+						DAP3_uc001flr.2_Intron|DAP3_uc001fls.2_Intron|DAP3_uc010pgl.1_Intron|DAP3_uc001flt.2_Intron|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Intron	NM_033657	NP_387506			death-associated protein 3						induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	156316804	156316805	+	IGR	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156316804_156316805delCT								C1orf182 (21 upstream) : RHBG (22198 downstream)																																			---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156499845	156499846	+	Intron	DEL	CA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156499845_156499846delCA	uc001fpf.2	-							NM_178229	NP_839943			IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160582201	160582201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160582201delA	uc001fwl.3	-						SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028			signaling lymphocytic activation molecule family						interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD247	919	broad.mit.edu	37	1	167487830	167487830	+	5'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167487830delG	uc001gei.3	-	1					CD247_uc001gej.3_5'UTR|CD247_uc001gek.2_5'UTR	NM_198053	NP_932170			T-cell receptor zeta chain isoform 1 precursor						interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)															---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172569120	172569120	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172569120delT	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172571102	172571102	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172571102delA	uc001giq.3	+						C1orf9_uc010pmm.1_Intron|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Intron	NM_014283	NP_055098			chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173702733	173702733	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173702733delA	uc001gjc.2	+						KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Intron|KLHL20_uc001gjd.2_Intron	NM_014458	NP_055273			kelch-like 20						cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179956362	179956362	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179956362delT	uc001gnt.2	+						CEP350_uc001gnr.1_Intron|CEP350_uc009wxl.2_Intron	NM_014810	NP_055625			centrosome-associated protein 350							centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180404392	180404392	+	Intron	DEL	T	-	-	rs114573269	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180404392delT	uc001gog.2	-							NM_032360	NP_115736			acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
C1orf21	81563	broad.mit.edu	37	1	184446788	184446788	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184446788delT	uc001gqv.1	+							NM_030806	NP_110433			chromosome 1 open reading frame 21												0		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)														---	---	---	---
C1orf26	54823	broad.mit.edu	37	1	185140797	185140797	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185140797delT	uc001grg.3	+						C1orf26_uc001grh.3_Intron	NM_001105518	NP_001098988			hypothetical protein LOC54823												0																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186115162	186115162	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186115162delA	uc001grq.1	+						HMCN1_uc001grs.1_Intron	NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200632979	200632979	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200632979delA	uc009wzk.2	-						DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895			DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200801614	200801614	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200801614delT	uc001gvl.2	+						CAMSAP1L1_uc001gvk.2_Intron|CAMSAP1L1_uc001gvm.2_Intron	NM_203459	NP_982284			calmodulin regulated spectrin-associated protein							cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	201997689	201997689	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201997689delA								ELF3 (11383 upstream) : GPR37L1 (94340 downstream)																																			---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205802017	205802017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205802017delT	uc001hdj.2	-						PM20D1_uc009xbr.2_Intron	NM_152491	NP_689704			peptidase M20 domain containing 1 precursor							extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)															---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208252478	208252478	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208252478delC	uc001hgz.2	-							NM_025179	NP_079455			plexin A2 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213173991	213173991	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213173991delA	uc001hjz.2	-						ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron	NM_144567	NP_653168			LOC90806 protein												0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213290507	213290507	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213290507delT	uc010ptr.1	+						RPS6KC1_uc001hkd.2_Intron|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Intron	NM_012424	NP_036556			ribosomal protein S6 kinase, 52kDa, polypeptide						cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215777330	215777330	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215777330delT	uc001hks.2	+						KCTD3_uc001hkt.2_Intron|KCTD3_uc010pub.1_Intron|KCTD3_uc009xdn.2_Intron	NM_016121	NP_057205			potassium channel tetramerisation domain							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215914592	215914592	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215914592delA	uc001hku.1	-							NM_206933	NP_996816			usherin isoform B						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
Unknown	0	broad.mit.edu	37	1	219745879	219745880	+	IGR	INS	-	AGGA	AGGA			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:219745879_219745880insAGGA								LYPLAL1 (359673 upstream) : SLC30A10 (112889 downstream)																																			---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324483	220324483	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324483delA	uc010puk.1	-	35					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_3'UTR|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546			rab3 GTPase-activating protein, non-catalytic						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220771631	220771631	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220771631delT	uc001hmn.3	+						MARK1_uc009xdw.2_Intron|MARK1_uc010pun.1_Intron|MARK1_uc001hmm.3_Intron	NM_018650	NP_061120			MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220789238	220789238	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220789238delT	uc001hmn.3	+						MARK1_uc009xdw.2_Intron|MARK1_uc010pun.1_Intron|MARK1_uc001hmm.3_Intron	NM_018650	NP_061120			MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223980974	223980974	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223980974delA	uc010pvb.1	-						TP53BP2_uc001hod.2_Intron|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Intron	NM_001031685	NP_001026855			tumor protein p53 binding protein, 2 isoform 1						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225695604	225695604	+	Intron	DEL	T	-	-	rs76873734		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:225695604delT	uc001hpc.1	-						ENAH_uc001hpd.1_Intron|ENAH_uc001hpb.1_Intron	NM_001008493	NP_001008493			enabled homolog isoform a						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)														---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227213676	227213676	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227213676delA	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqt.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
C1orf124	83932	broad.mit.edu	37	1	231475707	231475707	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231475707delA	uc001hur.2	+						EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Intron|C1orf124_uc001hut.2_Intron	NM_032018	NP_114407			hypothetical protein LOC83932 isoform a						DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)																---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233512089	233512089	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233512089delA	uc001hvt.3	+						KIAA1804_uc001hvu.3_Intron	NM_032435	NP_115811			mixed lineage kinase 4						activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236750617	236750617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236750617delA	uc001hyd.1	-							NM_018072	NP_060542			protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237819091	237819091	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237819091delT	uc001hyl.1	+							NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243327520	243327520	+	Intron	DEL	A	-	-	rs1815604	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243327520delA	uc001hzs.2	-						CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627			centrosomal protein 170kDa isoform alpha							centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)															---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248247982	248247982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248247982delT	uc001ids.2	+							NM_175911	NP_787107			olfactory receptor, family 2, subfamily L,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)															---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7001234	7001235	+	Intron	DEL	CG	-	-	rs3085147		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7001234_7001235delCG	uc002qyo.2	-						CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Intron	NM_207315	NP_997198			UMP-CMP kinase 2 precursor						dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10101687	10101688	+	Intron	DEL	TT	-	-	rs138724700		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10101687_10101688delTT	uc002raa.2	+						GRHL1_uc002rab.2_Intron|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Intron	NM_198182	NP_937825			grainyhead-like 1						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12858399	12858399	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:12858399delT	uc002rbv.3	+	1					TRIB2_uc010yjp.1_Intron	NM_021643	NP_067675			tribbles homolog 2						negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)															OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15537483	15537483	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15537483delT	uc002rcc.1	-						NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993			neuroblastoma-amplified protein											ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24841615	24841615	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24841615delT	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24949704	24949708	+	Intron	DEL	AAAAA	-	-	rs71960773		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24949704_24949708delAAAAA	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26503128	26503128	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26503128delA	uc002rgz.2	+						HADHB_uc010ykv.1_Intron|HADHB_uc010ykw.1_Intron|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Intron	NM_000183	NP_000174			mitochondrial trifunctional protein, beta						fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26663210	26663215	+	Intron	DEL	TGTGTA	-	-	rs59636742		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26663210_26663215delTGTGTA	uc002rhg.2	+						C2orf39_uc010eym.1_Intron	NM_145038	NP_659475			hypothetical protein LOC92749												0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CIB4	130106	broad.mit.edu	37	2	26863928	26863928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26863928delT	uc002rhm.2	-							NM_001029881	NP_001025052			calcium and integrin binding family member 4								calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27305786	27305786	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27305786delG	uc002rii.3	+	4	1775	c.1347delG	c.(1345-1347)TTGfs	p.L449fs	EMILIN1_uc010eyq.1_Frame_Shift_Del_p.L449fs|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	449					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
FNDC4	64838	broad.mit.edu	37	2	27717144	27717145	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27717144_27717145insC	uc002rkx.2	-						GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734			fibronectin type III domain containing 4							integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32626139	32626139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32626139delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32828247	32828247	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32828247delA	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39507306	39507306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39507306delT	uc002rro.2	-						MAP4K3_uc002rrp.2_Intron|MAP4K3_uc010yns.1_Intron	NM_003618	NP_003609			mitogen-activated protein kinase kinase kinase						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
PREPL	9581	broad.mit.edu	37	2	44550340	44550340	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44550340delT	uc002ruf.2	-						PREPL_uc002rug.2_Intron|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Intron|PREPL_uc002rui.3_Intron|PREPL_uc002ruj.1_Intron|PREPL_uc002ruk.1_Intron	NM_006036	NP_006027			prolyl endopeptidase-like isoform C						proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
C2orf34	79823	broad.mit.edu	37	2	44931581	44931581	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44931581delA	uc002rum.2	+							NM_024766	NP_079042			hypothetical protein LOC79823							cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53897896	53897896	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53897896delT	uc002rxg.1	-						ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc002rxf.1_Intron	NM_016115	NP_057199			ankyrin repeat and SOCS box-containing protein 3						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54127178	54127178	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54127178delA	uc002rxp.2	-						PSME4_uc010yop.1_Intron|PSME4_uc010yoq.1_Intron|PSME4_uc010fbu.1_Intron|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429			proteasome (prosome, macropain) activator						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55894901	55894902	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55894901_55894902insA	uc002rzf.2	-						PNPT1_uc002rzg.2_Intron	NM_033109	NP_149100			polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	60910327	60910328	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60910327_60910328insG								BCL11A (129694 upstream) : PAPOLG (73055 downstream)																																			---	---	---	---
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61577527delA	uc002sbe.2	-							NM_014709	NP_055524			ubiquitin specific protease 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	68675338	68675339	+	IGR	INS	-	G	G	rs112647784	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68675338_68675339insG								PLEK (50754 upstream) : FBXO48 (14168 downstream)																																			---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69298960	69298960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69298960delT	uc002sfg.2	+						ANTXR1_uc002sfe.2_Intron|ANTXR1_uc002sff.2_Intron|ANTXR1_uc002sfd.2_Intron	NM_032208	NP_115584			anthrax toxin receptor 1 isoform 1 precursor						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
FIGLA	344018	broad.mit.edu	37	2	71014775	71014776	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71014775_71014776insT	uc002she.1	-							NM_001004311	NP_001004311			factor in the germline alpha						multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73826304	73826304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73826304delT	uc002sje.1	+						ALMS1_uc002sjf.1_Intron|ALMS1_uc002sjh.1_Intron	NM_015120	NP_055935			Alstrom syndrome 1						G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SUCLG1	8802	broad.mit.edu	37	2	84658555	84658555	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84658555delA	uc002son.2	-							NM_003849	NP_003840			succinate-CoA ligase, GDP-forming alpha subunit						tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)													---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85595705	85595705	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85595705delA	uc002spf.3	+						ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Intron|ELMOD3_uc002sph.3_Intron|ELMOD3_uc010ysn.1_Intron|ELMOD3_uc010yso.1_Intron|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493			ELMO/CED-12 domain containing 3 isoform b						phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
RGPD1	400966	broad.mit.edu	37	2	87205186	87205187	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87205186_87205187insT	uc010fgv.2	+						RMND5A_uc002srs.3_Intron|RGPD1_uc002ssb.2_Intron|RGPD1_uc002ssc.2_Intron	NM_001024457	NP_001019628			RANBP2-like and GRIP domain containing 1						intracellular transport		binding				0																		---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	87397713	87397714	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87397713_87397714delTC	uc002srs.3	+											SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1;											ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	88292400	88292400	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88292400delA								RMND5A (253634 upstream) : KRCC1 (34324 downstream)																																			---	---	---	---
FLJ40330	645784	broad.mit.edu	37	2	89083945	89083946	+	Intron	INS	-	GC	GC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89083945_89083946insGC	uc010fhf.2	+						FLJ40330_uc010fhg.2_Intron|FLJ40330_uc010fhh.2_Intron					Homo sapiens mRNA; cDNA DKFZp434J1630 (from clone DKFZp434J1630).												0																		---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97020221	97020221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97020221delT	uc002svz.1	+						NCAPH_uc010fhu.1_Intron|NCAPH_uc010fhv.1_Intron|NCAPH_uc010yum.1_Intron|NCAPH_uc010fhw.1_Intron|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156			non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)																---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98779625	98779626	+	Intron	DEL	TG	-	-	rs112049891		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98779625_98779626delTG	uc002syo.2	+						VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_Intron|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Intron|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Intron	NM_144992	NP_659429			von Willebrand factor A domain containing 3B											ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99985818	99985818	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99985818delA	uc002tab.2	+							NM_015904	NP_056988			eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL1R1	3554	broad.mit.edu	37	2	102781255	102781255	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102781255delA	uc002tbq.2	+	4	401	c.83delA	c.(82-84)GAAfs	p.E28fs	IL1R1_uc010fix.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbp.2_Frame_Shift_Del_p.E28fs|IL1R1_uc002tbr.2_Frame_Shift_Del_p.E28fs	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	28	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)													---	---	---	---
Unknown	0	broad.mit.edu	37	2	106987360	106987360	+	IGR	DEL	T	-	-	rs78019139		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106987360delT								UXS1 (176565 upstream) : PLGLA (15409 downstream)																																			---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	109868231	109868231	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109868231delA	uc010ywt.1	+							NM_001099289	NP_001092759			SH3 domain containing ring finger 3								zinc ion binding			ovary(1)	1																		---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113316706	113316706	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113316706delT	uc002thw.2	+						POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_Intron|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Intron|POLR1B_uc002thy.2_Intron|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887			RNA polymerase I polypeptide B isoform 1						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113496662	113496663	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113496662_113496663insT	uc002tie.2	-						CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Intron|uc002tid.2_Intron	NM_152515	NP_689728			cytoskeleton associated protein 2-like							centrosome					0																		---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116593676	116593677	+	Intron	DEL	TG	-	-	rs10549769		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:116593676_116593677delTG	uc002tla.1	+						DPP10_uc002tlb.1_Intron|DPP10_uc002tlc.1_Intron|DPP10_uc002tle.2_Intron|DPP10_uc002tlf.1_Intron	NM_020868	NP_065919			dipeptidyl peptidase 10 isoform long						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10																		---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118865677	118865677	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118865677delT	uc002tlk.2	+						INSIG2_uc010yye.1_Intron|INSIG2_uc002tll.2_Intron	NM_016133	NP_057217			insulin induced protein 2						ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	130750777	130750777	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130750777delC								RAB6C (10466 upstream) : LOC440905 (32795 downstream)																																			---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131128612	131128612	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131128612delC	uc002trc.2	+						PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Intron|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184			protein tyrosine phosphatase, non-receptor type							cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)																	---	---	---	---
Unknown	0	broad.mit.edu	37	2	133020743	133020744	+	IGR	INS	-	T	T	rs137914230		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133020743_133020744insT								NCRNA00164 (5201 upstream) : GPR39 (153403 downstream)																																			---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135700158	135700158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135700158delA	uc002tuc.1	+						CCNT2_uc002tub.1_Intron|CCNT2_uc010zbf.1_Intron|CCNT2_uc002tud.1_Intron	NM_058241	NP_490595			cyclin T2 isoform b						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135870879	135870879	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135870879delT	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136622865	136622865	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136622865delA	uc002tuw.2	-							NM_005915	NP_005906			minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)													---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144313915	144313915	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144313915delT	uc002tvm.3	+						ARHGAP15_uc002tvn.2_Intron	NM_018460	NP_060930			ARHGAP15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148712820	148712820	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148712820delT	uc002twi.2	-						ORC4L_uc002twj.2_Intron|ORC4L_uc010zbo.1_Intron|ORC4L_uc010zbp.1_Intron|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Intron|ORC4L_uc002twk.2_Intron|ORC4L_uc010zbr.1_Intron	NM_181741	NP_859525			origin recognition complex subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149864394	149864394	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149864394delT	uc010zbu.1	+						KIF5C_uc002tws.1_Intron|KIF5C_uc002twu.1_Intron	NM_004522	NP_004513			kinesin family member 5C						microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331352	152331352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152331352delT	uc002txm.2	+						RIF1_uc002txl.2_Intron|RIF1_uc002txn.2_Intron|RIF1_uc002txo.2_Intron|RIF1_uc002txp.2_Intron|uc010fnw.1_5'Flank	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152417500	152417500	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152417500delA	uc010fnx.2	-						NEB_uc002txr.2_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162272776	162272776	+	5'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162272776delA	uc002ubw.1	+	1					TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584			T-box, brain, 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162903784	162903784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162903784delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162904110	162904110	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162904110delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron|DPP4_uc002uca.1_Intron|DPP4_uc002ucb.1_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012667	170012667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012667delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170033201	170033201	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170033201delA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170058057	170058057	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170058057delT	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171248018	171248018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171248018delT	uc002ufy.2	+						MYO3B_uc002ufv.2_Intron|MYO3B_uc010fqb.1_Intron|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_Intron|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	NM_138995	NP_620482			myosin IIIB isoform 2						response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172650406	172650407	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172650406_172650407insT	uc002uhh.2	-						SLC25A12_uc010fqh.2_Intron	NM_003705	NP_003696			solute carrier family 25, member 12						gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)													---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172823128	172823128	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172823128delA	uc002uhi.2	+						HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Intron	NM_003642	NP_003633			histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)															---	---	---	---
SP3	6670	broad.mit.edu	37	2	174783522	174783522	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174783522delA	uc002uig.2	-						SP3_uc002uie.2_Intron|SP3_uc002uif.2_Intron|SP3_uc010zel.1_Intron	NM_003111	NP_003102			Sp3 transcription factor isoform 1						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)															---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054889	177054889	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177054889delA	uc002ukv.3	+	2					HOXD1_uc010fqy.2_3'UTR|HOXD1_uc010zez.1_3'UTR	NM_024501	NP_078777			homeobox D1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)														---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178301396	178301396	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178301396delA	uc002ull.2	+						AGPS_uc010zfb.1_Intron	NM_003659	NP_003650			alkyldihydroxyacetone phosphate synthase						ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179258982	179258982	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179258982delT	uc002ulx.2	+						OSBPL6_uc002uly.2_Intron|OSBPL6_uc010zfe.1_Intron|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Intron	NM_032523	NP_115912			oxysterol-binding protein-like protein 6 isoform						lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180829240	180829241	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180829240_180829241insA	uc010frh.1	-						CWC22_uc002unp.2_Intron	NM_020943	NP_065994			CWC22 spliceosome-associated protein homolog							catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192278713	192278713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192278713delT	uc010fsg.2	+						MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Intron|MYO1B_uc002usu.2_Intron|MYO1B_uc002usv.2_Intron	NM_001130158	NP_001123630			myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206988816	206988816	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206988816delT	uc002vbe.2	-	19					NDUFS1_uc010ziq.1_3'UTR|NDUFS1_uc010zir.1_3'UTR|NDUFS1_uc010zis.1_3'UTR|NDUFS1_uc010zit.1_3'UTR|NDUFS1_uc010ziu.1_3'UTR	NM_005006	NP_004997			NADH dehydrogenase (ubiquinone) Fe-S protein 1,						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210561667	210561667	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210561667delA	uc002vde.1	+	9	4662	c.4414delA	c.(4414-4416)AAAfs	p.K1472fs	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Del_p.K1468fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1472					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220166975	220166976	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220166975_220166976insC	uc002vkz.2	-	6	966_967	c.877_878insG	c.(877-879)GTGfs	p.V293fs	PTPRN_uc010zlc.1_Frame_Shift_Ins_p.V203fs|PTPRN_uc002vla.2_Frame_Shift_Ins_p.V293fs	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	293	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227872647	227872647	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227872647delA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227973598	227973599	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227973598_227973599insA	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021599	242021599	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021599delC	uc002wah.1	+						SNED1_uc002wai.1_Intron|SNED1_uc002waj.1_Intron	NM_001080437	NP_001073906			6720455I24Rik homolog precursor						cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
ATG4B	23192	broad.mit.edu	37	2	242593946	242593946	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242593946delT	uc002wbv.2	+						ATG4B_uc002wbu.2_Intron|ATG4B_uc002wbw.2_Intron|ATG4B_uc010zox.1_Intron|ATG4B_uc010zoy.1_Intron|ATG4B_uc010fzp.2_Intron|ATG4B_uc010zoz.1_Intron	NM_013325	NP_037457			APG4 autophagy 4 homolog B isoform a						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)														---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4452827	4452827	+	Intron	DEL	T	-	-	rs72240947		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4452827delT	uc003bpz.1	-						SUMF1_uc003bps.1_Intron|SUMF1_uc011ass.1_Intron|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Intron	NM_182760	NP_877437			sulfatase modifying factor 1 isoform 1							endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4669682	4669682	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4669682delT	uc003bqa.2	+						ITPR1_uc010hbz.2_Intron|ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Intron	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10427117	10427117	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10427117delA	uc003bvt.2	-						ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331			plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12944144	12944144	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12944144delA	uc003bxt.2	-						IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Intron	NM_014869	NP_055684			IQ motif and Sec7 domain 1 isoform b						regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20217999	20217999	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20217999delA	uc003cbs.2	-						SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Intron|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Intron|SGOL1_uc003cca.2_Intron|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410			shugoshin-like 1 isoform A2						attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25661229	25661235	+	Intron	DEL	GAAAAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25661229_25661235delGAAAAAA	uc011awn.1	-						TOP2B_uc003cdj.2_Intron|TOP2B_uc011awm.1_Intron|TOP2B_uc010hff.1_Intron	NM_001068	NP_001059			DNA topoisomerase II, beta isozyme						DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
CMTM8	152189	broad.mit.edu	37	3	32301786	32301786	+	Intron	DEL	A	-	-	rs6796318	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32301786delA	uc003cex.2	+						CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199			CKLF-like MARVEL transmembrane domain containing						chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37032586	37032586	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37032586delA	uc003cgk.2	-	1					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620			EPM2A interacting protein 1							endoplasmic reticulum					0																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37547431	37547431	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37547431delT	uc003chd.2	+						ITGA9_uc003chc.2_Intron	NM_002207	NP_002198			integrin, alpha 9 precursor						axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44868019	44868019	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44868019delT	uc003cnx.3	+						KIF15_uc010hiq.2_Intron|KIF15_uc010hir.2_Intron	NM_020242	NP_064627			kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47752412	47752414	+	Intron	DEL	ATT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47752412_47752414delATT	uc003crq.2	-						SMARCC1_uc011bbd.1_Intron	NM_003074	NP_003065			SWI/SNF-related matrix-associated						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49339623	49339627	+	Intron	DEL	AAAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49339623_49339627delAAAAA	uc003cwq.2	-						USP4_uc003cwo.2_Intron|USP4_uc003cwp.2_Intron|USP4_uc003cwr.2_Intron	NM_003363	NP_003354			ubiquitin specific protease 4 isoform a						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
RBM6	10180	broad.mit.edu	37	3	49999865	49999865	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49999865delA	uc003cyc.2	+						RBM6_uc011bdh.1_Intron|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768			RNA binding motif protein 6						RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51417604delC	uc011bds.1	+	52	5572	c.5549delC	c.(5548-5550)ACCfs	p.T1850fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52662815	52662815	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52662815delG	uc003des.2	-						PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Intron|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Intron|PBRM1_uc003deu.2_Intron|PBRM1_uc003dev.2_Intron|PBRM1_uc003dew.2_Intron|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Intron|PBRM1_uc003dfb.1_Intron	NM_181042	NP_060635			polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833559	52833559	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833559delT	uc003dfv.2	+						ITIH3_uc011bek.1_Intron	NM_002217	NP_002208			inter-alpha (globulin) inhibitor H3						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52950388	52950396	+	Intron	DEL	TTTTTTTTA	-	-	rs71087030		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52950388_52950396delTTTTTTTTA	uc003dgf.2	-						SFMBT1_uc010hmr.2_Intron|SFMBT1_uc003dgg.2_Intron|SFMBT1_uc003dgh.2_Intron	NM_001005159	NP_001005159			Scm-like with four mbt domains 1						regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57494742	57494742	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57494742delT	uc003dit.2	-						DNAH12_uc003diu.2_Intron	NM_178504	NP_848599			dynein heavy chain domain 2 isoform 1						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2																		---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64184686	64184686	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64184686delT	uc003dmf.2	-							NM_198859	NP_942559			prickle-like 2							cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69104708	69104708	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69104708delA	uc003dno.2	-						UBA3_uc003dnq.2_Intron|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959			ubiquitin-activating enzyme 3 isoform 1						protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)														---	---	---	---
ARL6IP5	10550	broad.mit.edu	37	3	69153415	69153415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69153415delA	uc003dnr.2	+							NM_006407	NP_006398			ADP-ribosylation-like factor 6 interacting						L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89478476	89478476	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89478476delT	uc003dqy.2	+						EPHA3_uc010hon.1_Intron	NM_005233	NP_005224			ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
MINA	84864	broad.mit.edu	37	3	97669754	97669754	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97669754delA	uc003drz.1	-						MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Intron|MINA_uc003dsb.1_Intron|MINA_uc003dsc.1_Intron|MINA_uc010hpa.1_Intron	NM_001042533	NP_001035998			MYC induced nuclear antigen isoform a						ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100042414delT	uc003dtt.2	+						TBC1D23_uc003dts.2_Intron|TBC1D23_uc003dtu.2_Intron	NM_018309	NP_060779			TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311692	101311692	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311692delT	uc003dva.2	+	5					PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090			PEST proteolytic signal containing nuclear						cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108102761	108102761	+	Intron	DEL	T	-	-	rs73850872	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108102761delT	uc003dxa.1	-							NM_014981	NP_055796			myosin, heavy polypeptide 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108279028	108279028	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108279028delT	uc003dxb.3	-							NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108347822	108347822	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108347822delA	uc003dxd.2	+						DZIP3_uc003dxf.1_Intron|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Intron	NM_014648	NP_055463			DAZ interacting protein 3, zinc finger						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108813667	108813667	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108813667delA	uc003dxl.2	-						MORC1_uc011bhn.1_Intron	NM_014429	NP_055244			MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8																		---	---	---	---
CD86	942	broad.mit.edu	37	3	121825017	121825017	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121825017delT	uc003eet.2	+						CD86_uc011bjo.1_Intron|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Intron	NM_175862	NP_787058			CD86 antigen isoform 1						interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)													---	---	---	---
KPNA1	3836	broad.mit.edu	37	3	122215548	122215548	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122215548delC	uc003efd.1	-						KPNA1_uc011bjr.1_5'Flank|KPNA1_uc010hrh.2_Intron|KPNA1_uc003efe.2_Intron	NM_002264	NP_002255			karyopherin alpha 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418145	122418145	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418145delT	uc003efq.3	+						PARP14_uc010hrk.2_Intron|PARP14_uc003efr.2_5'Flank|PARP14_uc003efs.1_5'Flank	NM_017554	NP_060024			poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124458850	124458850	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124458850delT	uc003ehl.3	+						UMPS_uc003ehm.3_Intron|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Intron|UMPS_uc011bkc.1_Intron|UMPS_uc003ehn.3_Intron|UMPS_uc011bkd.1_Intron	NM_000373	NP_000364			uridine monophosphate synthase						'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)														---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195789	129195790	+	Intron	DEL	TT	-	-	rs10575192		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195789_129195790delTT	uc003emm.2	+						IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715			WD repeat domain 10 isoform 2						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
UBA5	79876	broad.mit.edu	37	3	132390860	132390860	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132390860delT	uc003epa.3	+						NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Intron|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Intron	NM_024818	NP_079094			ubiquitin-activating enzyme 5 isoform 1						protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136240317	136240317	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136240317delT	uc003era.1	-						STAG1_uc003erb.1_Intron|STAG1_uc003erc.1_Intron|STAG1_uc010hua.1_Intron|STAG1_uc003erd.2_Intron|STAG1_uc003ere.2_Intron	NM_005862	NP_005853			stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137981526	137981526	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137981526delA	uc003esa.1	+						TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Intron|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Intron|ARMC8_uc003esb.1_Intron|ARMC8_uc003esc.1_Intron|ARMC8_uc003esf.1_5'Flank	NM_015396	NP_056211			armadillo repeat containing 8 isoform 2								binding				0																		---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139086114	139086114	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139086114delA	uc003etf.3	-						COPB2_uc011bmv.1_Intron|COPB2_uc010hui.2_Intron	NM_004766	NP_004757			coatomer protein complex, subunit beta 2 (beta						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145789276	145789276	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145789276delT	uc003evs.1	-						PLOD2_uc003evq.1_Intron|PLOD2_uc011bnm.1_Intron|PLOD2_uc003evr.1_Intron	NM_000935	NP_000926			procollagen-lysine, 2-oxoglutarate 5-dioxygenase						protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
GYG1	2992	broad.mit.edu	37	3	148711907	148711907	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148711907delT	uc003ewn.2	+						GYG1_uc011bnp.1_Intron|GYG1_uc003ewo.2_Intron|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121			glycogenin 1						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
FAM194A	131831	broad.mit.edu	37	3	150420024	150420024	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150420024delC	uc003eyg.2	-						FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---
C3orf79	152118	broad.mit.edu	37	3	153203781	153203781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153203781delT	uc003ezt.2	+							NM_001101337	NP_001094807			chromosome 3 open reading frame 79												0																		---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153905449	153905449	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153905449delT	uc011bog.1	+						SGEF_uc011boh.1_Intron	NM_015595	NP_056410			Src homology 3 domain-containing guanine						regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160958626	160958627	+	Intron	DEL	TT	-	-	rs141601797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160958626_160958627delTT	uc003feb.1	+						NMD3_uc003fec.2_Intron|NMD3_uc003fed.1_Intron|NMD3_uc010hwh.2_Intron	NM_015938	NP_057022			NMD3 homolog						protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
SI	6476	broad.mit.edu	37	3	164755956	164755956	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164755956delT	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167402279	167402280	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167402279_167402280insC	uc003fex.2	-						PDCD10_uc003fez.2_Intron|PDCD10_uc003fey.2_Intron	NM_007217	NP_009148			programmed cell death 10						angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170819514	170819514	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170819514delA	uc003fhh.2	-						TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843			TRAF2 and NCK interacting kinase isoform 1						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843675	170843675	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170843675delA	uc003fhh.2	-						TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843			TRAF2 and NCK interacting kinase isoform 1						actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179334935	179334936	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179334935_179334936insT	uc003fkc.2	+						NDUFB5_uc003fkd.2_Intron|NDUFB5_uc003fke.2_Intron	NM_002492	NP_002483			NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)													---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179615760	179615761	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179615760_179615761insT	uc003fki.1	-						PEX5L_uc011bqd.1_Intron|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Intron|PEX5L_uc011bqg.1_Intron|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643			peroxisomal biogenesis factor 5-like						protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180671370	180671370	+	Intron	DEL	T	-	-	rs75916673		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180671370delT	uc003fkq.2	+						FXR1_uc003fkp.2_Intron|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Intron|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Intron	NM_005087	NP_005078			fragile X mental retardation-related protein 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184742112	184742112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184742112delT	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186967887	186967887	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186967887delT	uc003frh.1	-						MASP1_uc003fri.2_Intron|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Intron|MASP1_uc011bse.1_Intron	NM_001879	NP_001870			mannan-binding lectin serine protease 1 isoform						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190165415	190165415	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190165415delA	uc003fsj.2	-							NM_207316	NP_997199			transmembrane protein 207 precursor							integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193182984	193182984	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193182984delT	uc003ftd.2	-						ATP13A4_uc003fte.1_Intron|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_Intron|ATP13A4_uc003ftf.3_Intron	NM_032279	NP_115655			ATPase type 13A4						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
SDHAP2	727956	broad.mit.edu	37	3	195392917	195392917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195392917delT	uc003fuw.2	+						SDHAP2_uc003fut.3_Intron|SDHAP2_uc003fuu.3_Intron|SDHAP2_uc011btb.1_Intron|SDHAP2_uc011btc.1_Intron|SDHAP2_uc003fuv.2_Intron					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0																		---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196088571	196088571	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196088571delT	uc003fwm.3	-						UBXN7_uc003fwn.3_Intron|UBXN7_uc010iae.2_Intron	NM_015562	NP_056377			UBX domain containing 7								protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196793772	196793772	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196793772delA	uc003fxo.3	-						DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Intron|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Intron	NM_001098424	NP_001091894			discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2834925	2834925	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2834925delC	uc003gfi.3	+						SH3BP2_uc011bvp.1_Intron|SH3BP2_uc003gfj.3_Intron|SH3BP2_uc003gfk.3_Intron|SH3BP2_uc003gfl.3_Intron|SH3BP2_uc003gfm.3_Intron	NM_001122681	NP_001116153			SH3-domain binding protein 2 isoform a						signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2940408	2940408	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2940408delT	uc003ggj.1	-						C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_3'UTR	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2958218	2958218	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2958218delA	uc003ggj.1	-						C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_5'Flank|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron|NOP14_uc010icq.1_Intron	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
HTT	3064	broad.mit.edu	37	4	3129358	3129358	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3129358delT	uc011bvq.1	+							NM_002111	NP_002102			huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
TMEM128	85013	broad.mit.edu	37	4	4241997	4241997	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4241997delA	uc003ghr.1	-						TMEM128_uc003ghq.1_Intron|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Intron|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316			transmembrane protein 128							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)														---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13371634	13371634	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13371634delA	uc003gmu.2	-						RAB28_uc003gmt.2_Intron|RAB28_uc011bwz.1_Intron|RAB28_uc003gmv.2_Intron	NM_001017979	NP_001017979			RAB28, member RAS oncogene family isoform 1						small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2																		---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13485808	13485808	+	5'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13485808delG	uc003gmu.2	-	1					RAB28_uc003gmt.2_5'UTR|RAB28_uc011bwz.1_5'UTR|RAB28_uc003gmv.2_RNA	NM_001017979	NP_001017979			RAB28, member RAS oncogene family isoform 1						small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16587637	16587637	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16587637delA	uc003goz.2	-						LDB2_uc003gpa.2_Intron|LDB2_uc003gpb.2_Intron|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Intron|LDB2_uc003goy.2_Intron|LDB2_uc011bxi.1_Intron	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749784	22749787	+	Intron	DEL	TATA	-	-	rs33941035		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22749784_22749787delTATA	uc003gqp.3	+						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Intron	NM_020973	NP_066024			cytosolic beta-glucosidase isoform a						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26431945	26431945	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26431945delA	uc003grx.1	+						RBPJ_uc003gry.1_Intron|RBPJ_uc003grz.1_Intron|RBPJ_uc011bxt.1_3'UTR|RBPJ_uc003gsa.1_Intron|RBPJ_uc003gsb.1_Intron|RBPJ_uc003gsc.1_Intron|uc003gsd.2_5'Flank	NM_005349	NP_005340			recombining binding protein suppressor of						DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)																---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27004738	27004738	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27004738delA	uc003gsh.3	+						STIM2_uc003gsg.3_Intron|STIM2_uc010iex.2_Intron|STIM2_uc010iey.2_Intron	NM_020860	NP_065911			stromal interaction molecule 2						activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37590393	37590393	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37590393delA	uc003gsw.3	+						C4orf19_uc003gsy.3_Intron	NM_001104629	NP_001098099			hypothetical protein LOC55286												0																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38777276	38777276	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38777276delA	uc003gti.2	-						TLR10_uc003gtj.2_Intron|TLR10_uc003gtk.2_Intron	NM_030956	NP_112218			toll-like receptor 10 precursor						inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
KLB	152831	broad.mit.edu	37	4	39449786	39449786	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39449786delA	uc003gua.2	+						KLB_uc011byj.1_Intron	NM_175737	NP_783864			klotho beta						carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39974662	39974662	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39974662delT	uc003guv.3	-						PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Intron	NM_001100399	NP_001093869			PDS5, regulator of cohesion maintenance, homolog						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695103	47695103	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695103delA	uc003gxm.2	-						CORIN_uc011bzf.1_Intron|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_Intron	NM_006587	NP_006578			corin						peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48533084	48533087	+	Intron	DEL	TCAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48533084_48533087delTCAA	uc003gyh.1	-						FRYL_uc003gyg.1_Intron|FRYL_uc003gyi.1_Intron|FRYL_uc003gyj.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48625211	48625213	+	Intron	DEL	AAC	-	-	rs776579	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48625211_48625213delAAC	uc003gyh.1	-						FRYL_uc003gyk.2_Intron|FRYL_uc003gyl.1_Intron|FRYL_uc003gym.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
DCUN1D4	23142	broad.mit.edu	37	4	52757912	52757912	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52757912delT	uc003gze.2	+						DCUN1D4_uc003gzf.2_Intron|DCUN1D4_uc011bzn.1_Intron|DCUN1D4_uc003gzg.2_Intron|DCUN1D4_uc003gzh.2_Intron|DCUN1D4_uc011bzo.1_Intron	NM_001040402	NP_001035492			DCN1, defective in cullin neddylation 1, domain											ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)															---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52926826	52926826	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52926826delT	uc003gzl.2	+						SPATA18_uc010igl.1_Intron|SPATA18_uc011bzq.1_Intron|SPATA18_uc003gzk.1_Intron	NM_145263	NP_660306			spermatogenesis associated 18 homolog						mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56884135	56884135	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56884135delT	uc003hbi.2	+						CEP135_uc003hbj.2_Intron	NM_025009	NP_079285			centrosome protein 4						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57267248	57267248	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57267248delA	uc003hbr.2	-							NM_002703	NP_002694			phosphoribosyl pyrophosphate amidotransferase						glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---
Unknown	0	broad.mit.edu	37	4	57500223	57500223	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57500223delA								ARL9 (110165 upstream) : HOPX (13931 downstream)																																			---	---	---	---
C4orf14	84273	broad.mit.edu	37	4	57832975	57832975	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57832975delA	uc003hck.2	-							NM_032313	NP_115689			hypothetical protein LOC84273								GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
Unknown	0	broad.mit.edu	37	4	68312325	68312325	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68312325delT	uc003hdc.1	-											Homo sapiens cDNA FLJ35884 fis, clone TESTI2008960.																														---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68547233	68547233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68547233delA	uc003hdg.3	-						UBA6_uc003hdi.2_Intron|UBA6_uc003hdj.2_Intron	NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69198815	69198815	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69198815delA	uc003hdx.2	-						YTHDC1_uc003hdy.2_Intron	NM_001031732	NP_001026902			splicing factor YT521-B isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CSN2	1447	broad.mit.edu	37	4	70826811	70826812	+	5'Flank	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70826811_70826812delAA	uc003hes.3	-						CSN2_uc003het.3_5'Flank	NM_001891	NP_001882			casein beta precursor						calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity				0																		---	---	---	---
C4orf40	401137	broad.mit.edu	37	4	71027283	71027283	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71027283delT	uc003hfa.3	+						C4orf40_uc003hfb.3_Intron	NM_214711	NP_999876			hypothetical protein LOC401137 precursor							extracellular region					0																		---	---	---	---
DCK	1633	broad.mit.edu	37	4	71892332	71892333	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71892332_71892333delTT	uc003hfx.2	+						DCK_uc011cbb.1_Intron	NM_000788	NP_000779			deoxycytidine kinase						purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)													---	---	---	---
ALB	213	broad.mit.edu	37	4	74270303	74270305	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74270303_74270305delAAA	uc003hgs.3	+						ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Intron|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_5'Flank	NM_000477	NP_000468			albumin preproprotein						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
ALB	213	broad.mit.edu	37	4	74270811	74270811	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74270811delT	uc003hgs.3	+						ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Intron|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_5'Flank	NM_000477	NP_000468			albumin preproprotein						bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
USO1	8615	broad.mit.edu	37	4	76726517	76726517	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76726517delT	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78081697	78081697	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78081697delA	uc003hkq.3	+						CCNG2_uc003hkn.3_Intron|CCNG2_uc011ccc.1_Intron|CCNG2_uc003hkp.3_Intron	NM_004354	NP_004345			cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79369152	79369153	+	Intron	INS	-	AT	AT			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79369152_79369153insAT	uc003hlb.2	+							NM_025074	NP_079350			Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82349077	82349077	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82349077delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82367029	82367029	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82367029delA	uc003hmi.1	-						RASGEF1B_uc003hmj.1_Intron|RASGEF1B_uc010ijq.1_Intron	NM_152545	NP_689758			RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85723104	85723104	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85723104delT	uc003hpd.2	-							NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87656212	87656212	+	Intron	DEL	T	-	-	rs77672732		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87656212delT	uc003hpz.2	+						PTPN13_uc003hpy.2_Intron|PTPN13_uc003hqa.2_Intron|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	87792172	87792172	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87792172delA								SLC10A6 (21756 upstream) : C4orf36 (5187 downstream)																																			---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95206100	95206100	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95206100delT	uc003htc.3	+						SMARCAD1_uc003htb.3_Intron|SMARCAD1_uc003htd.3_Intron|SMARCAD1_uc010ila.2_Intron|SMARCAD1_uc011cdw.1_Intron	NM_020159	NP_064544			SWI/SNF-related, matrix-associated						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99960367	99960367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99960367delT	uc003huf.3	+						METAP1_uc003hug.2_Intron	NM_015143	NP_055958			methionyl aminopeptidase 1						N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
SLC39A8	64116	broad.mit.edu	37	4	103188866	103188866	+	Intron	DEL	T	-	-	rs71705287		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103188866delT	uc003hwb.1	-						SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Intron|SLC39A8_uc003hwc.2_Intron	NM_022154	NP_071437			solute carrier family 39 (zinc transporter),							integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)														---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107037270	107037270	+	Intron	DEL	T	-	-	rs79018134		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107037270delT	uc010ilv.2	-						TBCK_uc003hyb.2_Intron|TBCK_uc003hye.2_Intron|TBCK_uc003hyc.2_Intron|TBCK_uc003hyd.2_Intron|TBCK_uc003hyf.2_Intron	NM_001163435	NP_001156907			TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107037554	107037554	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107037554delA	uc010ilv.2	-						TBCK_uc003hyb.2_Intron|TBCK_uc003hye.2_Intron|TBCK_uc003hyc.2_Intron|TBCK_uc003hyd.2_Intron|TBCK_uc003hyf.2_Intron	NM_001163435	NP_001156907			TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108608337	108608337	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108608337delA	uc003hyk.2	-						PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434			3'-phosphoadenosine 5'-phosphosulfate synthase						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
AP1AR	55435	broad.mit.edu	37	4	113186056	113186056	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113186056delT	uc003iaj.3	+						AP1AR_uc010imm.1_Intron|AP1AR_uc003iak.3_Intron	NM_018569	NP_061039			adaptor-related protein complex 1 associated						protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0																		---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239769	119239769	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119239769delT	uc003ica.1	-							NM_003619	NP_003610			neurotrypsin precursor							membrane	scavenger receptor activity			skin(1)	1																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122068097	122068097	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122068097delA	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123095926	123095926	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123095926delT	uc003ieh.2	+							NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123145659	123145659	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123145659delC	uc003ieh.2	+	21	2665	c.2620delC	c.(2620-2622)CCCfs	p.P874fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.P627fs|KIAA1109_uc010ins.1_Frame_Shift_Del_p.P217fs|KIAA1109_uc003iej.1_Frame_Shift_Del_p.P259fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	874					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128863072	128863072	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128863072delA	uc003ifp.2	-						MFSD8_uc011cgu.1_Intron|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991			major facilitator superfamily domain containing						cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2																		---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140270590	140270591	+	Intron	DEL	TT	-	-	rs112955393		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140270590_140270591delTT	uc003ihu.1	+							NM_057175	NP_476516			NMDA receptor regulated 1						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144471021	144471021	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144471021delT	uc003ijg.2	+							NM_003601	NP_003592			SWI/SNF-related matrix-associated						CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155505988	155505988	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155505988delA	uc003iod.1	-							NM_000508	NP_000499			fibrinogen, alpha polypeptide isoform alpha-E						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159603683	159603684	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159603683_159603684delTT	uc003iqb.2	+						ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Intron|ETFDH_uc010iqs.2_Intron	NM_004453	NP_004444			electron-transferring-flavoprotein dehydrogenase						fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160271577	160271577	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160271577delT	uc003iqg.3	+							NM_014247	NP_055062			Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169158399	169158400	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169158399_169158400delCT	uc003irp.2	-							NM_017631	NP_060101			DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184207093	184207093	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184207093delT	uc010irx.2	+						WWC2_uc003ivk.3_Intron|WWC2_uc003ivl.3_Intron|WWC2_uc010iry.2_Intron|WWC2_uc003ivn.3_Intron|WWC2_uc010irz.2_Intron|WWC2_uc003ivo.3_Intron	NM_024949	NP_079225			WW and C2 domain containing 2											ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)														---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186267675	186267675	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186267675delT	uc003ixh.2	+						SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Intron	NM_031953	NP_114159			sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
SDHA	6389	broad.mit.edu	37	5	240458	240458	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:240458delT	uc003jao.3	+						SDHA_uc011clv.1_Intron|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Intron|SDHA_uc003jar.3_Intron	NM_004168	NP_004159			succinate dehydrogenase complex, subunit A,						nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1321591	1321591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1321591delT	uc003jch.2	-						CLPTM1L_uc003jcg.2_Intron	NM_030782	NP_110409			CLPTM1-like						apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)														---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1409126	1409126	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1409126delT	uc003jck.2	-							NM_001044	NP_001035			solute carrier family 6 (neurotransmitter						cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)													---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1501536	1501536	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1501536delC	uc003jcm.2	-							NM_024830	NP_079106			lysophosphatidylcholine acyltransferase 1						phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)														---	---	---	---
SDHAP3	728609	broad.mit.edu	37	5	1593156	1593156	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1593156delA	uc010itg.1	-						SDHAP3_uc011cme.1_Intron					Homo sapiens cDNA clone IMAGE:40127561.												0																		---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7885676	7885677	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7885676_7885677delTT	uc003jed.2	+						MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Intron|MTRR_uc003jef.3_Intron|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_Intron	NM_024010	NP_076915			methionine synthase reductase isoform 2						methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)													---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14489275	14489275	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14489275delA	uc003jff.2	+						TRIO_uc003jfg.2_Intron	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19612813	19612813	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19612813delT	uc003jgc.2	-						CDH18_uc003jgd.2_Intron|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19746957	19746958	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19746957_19746958delAT	uc003jgc.2	-						CDH18_uc003jgd.2_Intron|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32091384	32091385	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32091384_32091385delAC	uc003jhl.2	+						PDZD2_uc003jhm.2_Intron	NM_178140	NP_835260			PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32786466	32786467	+	3'UTR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32786466_32786467delTT	uc003jhv.2	+	8					NPR3_uc011cnz.1_3'UTR|NPR3_uc003jhu.2_3'UTR|C5orf23_uc003jhw.1_5'Flank	NM_000908	NP_000899			natriuretic peptide receptor C/guanylate cyclase						osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)													---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34954259	34954259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34954259delT	uc003jjc.2	+						DNAJC21_uc003jjb.2_Intron	NM_001012339	NP_001012339			DnaJ homology subfamily A member 5 isoform 2						protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37010413	37010414	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37010413_37010414insT	uc003jkl.3	+						NIPBL_uc003jkk.3_Intron	NM_133433	NP_597677			delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37349361	37349362	+	Intron	DEL	AA	-	-	rs74712044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37349361_37349362delAA	uc003jku.1	-						NUP155_uc003jkt.1_Intron|NUP155_uc010iuz.1_Intron	NM_153485	NP_705618			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38430360	38430360	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38430360delT	uc003jlc.1	+						EGFLAM_uc003jlb.1_Intron|EGFLAM_uc003jle.1_Intron|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616			EGF-like, fibronectin type III and laminin G							cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38925278	38925279	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38925278_38925279insA	uc003jln.1	+						OSMR_uc011cpj.1_Intron	NM_003999	NP_003990			oncostatin M receptor precursor						cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353454	45353454	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45353454delA	uc003jok.2	-							NM_021072	NP_066550			hyperpolarization activated cyclic							integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
SFRS12IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64023941delT	uc003jtk.2	-	4	423	c.271delA	c.(271-273)AGGfs	p.R91fs		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	91	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)														---	---	---	---
C5orf44	80006	broad.mit.edu	37	5	64931972	64931974	+	Intron	DEL	TTT	-	-	rs71760261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64931972_64931974delTTT	uc003jtz.3	+						C5orf44_uc003jua.3_Intron|C5orf44_uc003juc.3_Intron|C5orf44_uc010iwv.2_Intron	NM_024941	NP_079217			hypothetical protein LOC80006 isoform 2											ovary(1)	1																		---	---	---	---
SGTB	54557	broad.mit.edu	37	5	64976250	64976250	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64976250delA	uc003jud.2	-							NM_019072	NP_061945			small glutamine-rich tetratricopeptide repeat								binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)														---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65279617	65279617	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65279617delC	uc003juk.1	+						ERBB2IP_uc003juh.1_Intron|ERBB2IP_uc003jui.1_Intron|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Intron|ERBB2IP_uc011cqy.1_Intron|ERBB2IP_uc011cqz.1_Intron	NM_018695	NP_061165			ERBB2 interacting protein isoform 2						basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)														---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66398594	66398594	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66398594delA	uc003jut.1	+						MAST4_uc003jus.2_Intron|MAST4_uc003juu.1_Intron|MAST4_uc011cra.1_Intron|MAST4_uc010ixa.2_Intron|MAST4_uc003juv.2_Intron|MAST4_uc003juw.2_Intron	NM_015183	NP_055998			microtubule associated serine/threonine kinase							cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
SLC30A5	64924	broad.mit.edu	37	5	68399960	68399960	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68399960delT	uc003jvh.2	+						SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron	NM_022902	NP_075053			solute carrier family 30 (zinc transporter),						cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70835352	70835352	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70835352delT	uc003kbp.1	+						BDP1_uc003kbo.2_Intron|BDP1_uc003kbq.1_Intron|BDP1_uc003kbr.1_Intron	NM_018429	NP_060899			transcription factor-like nuclear regulator						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72146953	72146953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72146953delA	uc003kck.3	+						TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Intron|TNPO1_uc003kch.2_Intron|TNPO1_uc003kci.3_Intron|TNPO1_uc003kcg.3_Intron	NM_002270	NP_002261			transportin 1 isoform 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76745819	76745819	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76745819delA	uc003kff.1	-						WDR41_uc011csy.1_Intron|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Intron|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738			WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)														---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78351761	78351761	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78351761delA	uc003kfs.2	-						DMGDH_uc011cte.1_5'Flank|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523			dimethylglycine dehydrogenase precursor						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78378959	78378959	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78378959delA	uc003kft.2	+						BHMT2_uc011cth.1_Intron	NM_017614	NP_060084			betaine-homocysteine methyltransferase 2						methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86644899	86644900	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86644899_86644900delAA	uc003kiw.2	+						RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron	NM_002890	NP_002881			RAS p21 protein activator 1 isoform 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
LOC645323	645323	broad.mit.edu	37	5	87898998	87898998	+	Intron	DEL	A	-	-	rs11959094		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87898998delA	uc011cua.1	-							NR_015436				Homo sapiens cDNA FLJ34037 fis, clone FCBBF2005439.												0																		---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89933862	89933863	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89933862_89933863delAA	uc003kju.2	+						GPR98_uc003kjt.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90671548	90671548	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90671548delT	uc003kjz.2	-							NM_020801	NP_065852			arrestin domain containing 3						signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)														---	---	---	---
RFESD	317671	broad.mit.edu	37	5	94991635	94991635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94991635delA	uc003klf.2	+						RFESD_uc003klg.2_Intron|RFESD_uc011cun.1_Intron|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498			Rieske (Fe-S) domain containing isoform 2								2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)														---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96349292	96349292	+	Intron	DEL	T	-	-	rs74970606		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96349292delT	uc003kmv.1	+						LNPEP_uc003kmw.1_Intron	NM_005575	NP_005566			leucyl/cystinyl aminopeptidase isoform 1						cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	96392026	96392026	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96392026delA								LNPEP (26911 upstream) : LIX1 (35549 downstream)																																			---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101755728delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101793966	101793966	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101793966delA	uc003knn.2	-						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Intron|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
APC	324	broad.mit.edu	37	5	112154530	112154531	+	Intron	DEL	TG	-	-	rs141013063	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112154530_112154531delTG	uc010jby.2	+						APC_uc011cvt.1_Intron|APC_uc003kpz.3_Intron|APC_uc003kpy.3_Intron|APC_uc010jbz.2_Intron	NM_001127511	NP_001120983			adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112328522	112328522	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112328522delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112343574	112343574	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112343574delT	uc003kqh.2	+						DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_Intron	NM_152624	NP_689837			DCP2 decapping enzyme						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122163031	122163031	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122163031delT	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122748350	122748350	+	Intron	DEL	T	-	-	rs66479829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122748350delT	uc003ktk.2	-						CEP120_uc011cwq.1_Intron|CEP120_uc010jcz.1_Intron	NM_153223	NP_694955			coiled-coil domain containing 100							centrosome				ovary(1)	1																		---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125885822	125885822	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125885822delT	uc003ktx.2	-						ALDH7A1_uc003ktv.2_Intron|ALDH7A1_uc003kty.2_Intron|ALDH7A1_uc011cxa.1_Intron	NM_001182	NP_001173			aldehyde dehydrogenase 7 family, member A1						cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	5	126506009	126506009	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126506009delT								FLJ44606 (96837 upstream) : MEGF10 (120447 downstream)																																			---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128932244	128932244	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128932244delT	uc003kvb.1	+						ADAMTS19_uc010jdh.1_5'Flank	NM_133638	NP_598377			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132069870	132069870	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132069870delT	uc003kxo.2	-						KIF3A_uc003kxn.2_Intron|KIF3A_uc011cxf.1_Intron|KIF3A_uc003kxp.2_Intron	NM_007054	NP_008985			kinesin family member 3A						blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132159772	132159773	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132159772_132159773insC	uc003kxx.2	-	7	2385_2386	c.1580_1581insG	c.(1579-1581)GGCfs	p.G527fs	SHROOM1_uc003kxy.1_Frame_Shift_Ins_p.G527fs	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	527					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
UBE2B	7320	broad.mit.edu	37	5	133726150	133726150	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133726150delA	uc003kzh.2	+	6						NM_003337	NP_003328			ubiquitin-conjugating enzyme E2B						canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137763437	137763437	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137763437delT	uc003lcy.1	+						KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688			jumonji domain containing 1B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138764375delA	uc003len.2	-						DNAJC18_uc010jff.2_Intron	NM_152686	NP_689899			DnaJ (Hsp40) homolog, subfamily C, member 18						protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
PRELID2	153768	broad.mit.edu	37	5	145199605	145199605	+	Intron	DEL	A	-	-	rs11309176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145199605delA	uc003lnp.1	-						PRELID2_uc003lnq.1_Intron|PRELID2_uc003lno.1_Intron|PRELID2_uc003lnr.1_Intron	NM_182960	NP_892005			PRELI domain containing 2 isoform a												0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	149227268	149227269	+	IGR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149227268_149227269delAA								PPARGC1B (1 upstream) : PDE6A (10251 downstream)																																			---	---	---	---
CD74	972	broad.mit.edu	37	5	149792481	149792481	+	5'Flank	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149792481delG	uc003lsc.2	-						CD74_uc003lse.2_5'Flank|CD74_uc003lsd.2_5'Flank|CD74_uc003lsf.1_5'Flank	NM_001025159	NP_001020330			CD74 antigen isoform a						antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)					T	ROS1	NSCLC								---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150102363	150102364	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150102363_150102364delTT	uc003lsv.2	-						DCTN4_uc003lsu.2_Intron|DCTN4_uc010jhi.2_Intron	NM_016221	NP_057305			dynactin 4 (p62) isoform b							centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154135745	154135745	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160886864	160886864	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160886864delA	uc003lys.1	-						GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Intron	NM_021911	NP_068711			gamma-aminobutyric acid (GABA) A receptor, beta						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167379581	167379581	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167379581delT	uc010jjd.2	+						ODZ2_uc003lzq.2_Intron|ODZ2_uc003lzr.3_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179689017	179689017	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179689017delA	uc003mls.3	-						MAPK9_uc003mlt.3_Intron|MAPK9_uc010jlc.2_Intron|MAPK9_uc003mlv.3_Intron|MAPK9_uc011dgx.1_Intron	NM_002752	NP_002743			mitogen-activated protein kinase 9 isoform JNK2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
Unknown	0	broad.mit.edu	37	6	5067160	5067161	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5067160_5067161insC	uc003mwn.1	+											Homo sapiens cDNA FLJ37615 fis, clone BRCOC2011996.																														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7566746	7566746	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7566746delA	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7578647	7578647	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7578647delT	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7582771	7582771	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7582771delT	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13584591	13584591	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13584591delT	uc003nay.2	+						SIRT5_uc003naw.2_Intron|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Intron	NM_012241	NP_036373			sirtuin 5 isoform 1						chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
TPMT	7172	broad.mit.edu	37	6	18134020	18134021	+	Intron	DEL	AC	-	-	rs68138647		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18134020_18134021delAC	uc003ncm.2	-						TPMT_uc010jpm.1_Frame_Shift_Del_p.G198fs	NM_000367	NP_000358			thiopurine S-methyltransferase						xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)													---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24567112	24567112	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24567112delT	uc011djo.1	-						KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Intron|KIAA0319_uc011djq.1_Intron|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Intron	NM_014809	NP_055624			KIAA0319 precursor						negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29580837	29580837	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29580837delT	uc003nmt.3	-						GABBR1_uc003nmp.3_Intron|GABBR1_uc003nms.3_Intron|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Intron|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461			gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30576436	30576436	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30576436delT	uc003nqn.1	-						PPP1R10_uc010jsc.1_Intron	NM_002714	NP_002705			protein phosphatase 1, regulatory subunit 10						protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30621048	30621048	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30621048delT	uc003nqz.2	-	20	3309	c.3097delA	c.(3097-3099)ATAfs	p.I1033fs	DHX16_uc003nqy.2_Frame_Shift_Del_p.I552fs|DHX16_uc011dmo.1_Frame_Shift_Del_p.I973fs	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1033					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	30665317	30665318	+	IGR	DEL	TT	-	-	rs137943555		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30665317_30665318delTT								NRM (6259 upstream) : MDC1 (2267 downstream)																																			---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31708750	31708750	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31708750delA	uc003nwv.1	+						MSH5_uc003nwt.1_Intron|MSH5_uc003nwu.1_Intron|MSH5_uc003nww.1_Intron|MSH5_uc003nwx.1_Intron	NM_172166	NP_751898			mutS homolog 5 isoform c						chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35216592	35216592	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35216592delA	uc003okf.1	+	22					SCUBE3_uc003okg.1_3'UTR|SCUBE3_uc003okh.1_3'UTR	NM_152753	NP_689966			signal peptide, CUB domain, EGF-like 3						protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38750770	38750770	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38750770delA	uc003ooe.1	+							NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371468	44371468	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371468delT	uc003oxl.2	+							NM_001253	NP_001244			CDC5-like						cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46518263	46518263	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46518263delA	uc003oyf.1	-						CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677			cytochrome P450, family 39, subfamily A,						bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1																		---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46836932	46836932	+	Intron	DEL	A	-	-	rs75249218		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46836932delA	uc003oyo.3	-						GPR116_uc011dwj.1_5'UTR|GPR116_uc011dwk.1_Intron|GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Intron|GPR116_uc010jzi.1_Intron	NM_001098518	NP_001091988			G-protein coupled receptor 116 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51887448	51887449	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51887448_51887449insT	uc003pah.1	-						PKHD1_uc003pai.2_Intron	NM_138694	NP_619639			fibrocystin isoform 1						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52288681	52288681	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52288681delT	uc003pap.3	+						EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Intron	NM_018100	NP_060570			EF-hand domain (C-terminal) containing 1							axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55381522	55381523	+	Intron	INS	-	A	A	rs141179453	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55381522_55381523insA	uc003pcn.2	-						HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909			3-hydroxymethyl-3-methylglutaryl-Coenzyme A								hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---
DST	667	broad.mit.edu	37	6	56376047	56376049	+	In_Frame_Del	DEL	TCT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56376047_56376049delTCT	uc003pdf.2	-	67	12397_12399	c.12369_12371delAGA	c.(12367-12372)GAAGAT>GAT	p.E4123del	DST_uc003pcz.3_In_Frame_Del_p.E3945del|DST_uc011dxj.1_In_Frame_Del_p.E3974del|DST_uc011dxk.1_In_Frame_Del_p.E3985del|DST_uc003pcy.3_In_Frame_Del_p.E3619del	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6031	Spectrin 11.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64289336	64289336	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64289336delT	uc003pek.2	+						PTP4A1_uc003pel.2_Intron	NM_003463	NP_003454			protein tyrosine phosphatase type IVA, member 1						cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70648035	70648036	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70648035_70648036insA	uc003pfc.1	+						COL19A1_uc010kam.1_Intron	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71562148	71562148	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71562148delT	uc003pfr.2	+						SMAP1_uc003pfs.2_Intron|SMAP1_uc010kao.2_Intron|SMAP1_uc010kap.2_Intron	NM_001044305	NP_001037770			stromal membrane-associated GTPase-activating						regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73835182	73835182	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73835182delT	uc003pgk.2	+						KCNQ5_uc011dyh.1_Intron|KCNQ5_uc011dyi.1_Intron|KCNQ5_uc010kat.2_Intron|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816			potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75798722	75798722	+	Intron	DEL	C	-	-	rs672648		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75798722delC	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83841885	83841885	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83841885delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83861593	83861593	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83861593delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83869790	83869790	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83869790delT	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron|DOPEY1_uc003pjt.2_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
RNGTT	8732	broad.mit.edu	37	6	89563641	89563642	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89563641_89563642delTT	uc003pmr.2	-						RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron	NM_003800	NP_003791			RNA guanylyltransferase and 5'-phosphatase						interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)														---	---	---	---
LYRM2	57226	broad.mit.edu	37	6	90347730	90347730	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90347730delT	uc003pnm.2	-						LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|LYRM2_uc010kcf.1_Intron|LYRM2_uc010kcg.2_Intron|LYRM2_uc003pnl.3_Intron	NM_020466	NP_065199			LYR motif containing 2												0		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90529029	90529030	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90529029_90529030delAA	uc003pnn.1	-						MDN1_uc003pnp.1_Intron	NM_014611	NP_055426			MDN1, midasin homolog						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CCNC	892	broad.mit.edu	37	6	100006215	100006215	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100006215delT	uc003pqe.2	-						uc003pqc.2_Intron|CCNC_uc003pqd.2_Intron|CCNC_uc010kcr.2_Intron|CCNC_uc010kcs.2_Intron|CCNC_uc011eah.1_Intron|CCNC_uc003pqf.2_3'UTR	NM_005190	NP_005181			cyclin C isoform a						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101215315	101215315	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101215315delA	uc003pqk.2	-						ASCC3_uc011eai.1_Intron|ASCC3_uc003pql.2_Intron	NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102133965	102133965	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102133965delA	uc003pqp.3	+						GRIK2_uc003pqn.2_Intron|GRIK2_uc003pqo.3_Intron|GRIK2_uc010kcw.2_Intron	NM_021956	NP_068775			glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)													---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105244435	105244436	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105244435_105244436insA	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107595537	107595537	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107595537delT	uc003prt.2	-						PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.2_Intron|PDSS2_uc003prv.2_Intron	NM_020381	NP_065114			prenyl diphosphate synthase, subunit 2						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108197684	108197684	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108197684delT	uc003psc.3	-						SEC63_uc003psb.3_Intron	NM_007214	NP_009145			SEC63-like protein						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109769301	109769302	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109769301_109769302delAC	uc003ptj.2	-						MICAL1_uc003ptk.2_Intron|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Intron	NM_022765	NP_073602			microtubule associated monoxygenase, calponin						cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	113545198	113545199	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:113545198_113545199insT								RFPL4B (872700 upstream) : MARCKS (633328 downstream)																																			---	---	---	---
RSPH4A	345895	broad.mit.edu	37	6	116951817	116951817	+	Intron	DEL	T	-	-	rs784134		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116951817delT	uc003pxe.2	+						RSPH4A_uc010kee.2_Intron	NM_001010892	NP_001010892			radial spoke head 4 homolog A isoform 1						cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0														Kartagener_syndrome				---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237595	117237595	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237595delT	uc003pxm.2	+							NM_173560	NP_775831			regulatory factor X, 6						glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118598580	118598580	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118598580delG	uc003pxx.3	+						SLC35F1_uc003pxy.1_Intron	NM_001029858	NP_001025029			solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119301222	119301222	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119301222delA	uc003pyj.2	-						FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron	NM_024581	NP_078857			hypothetical protein LOC79632 isoform 1											ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	121730064	121730064	+	IGR	DEL	T	-	-	rs74363630		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121730064delT								C6orf170 (74420 upstream) : GJA1 (26681 downstream)																																			---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332047	123332047	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332047delT	uc003pzi.1	+							NM_001010852	NP_001010852			retinaldehyde binding protein 1-like 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123637480	123637480	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123637480delT	uc003pzj.1	-						TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123702474	123702474	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123702474delA	uc003pzj.1	-						TRDN_uc003pzk.1_Intron|TRDN_uc003pzl.1_Intron|TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127804264	127804264	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127804264delA	uc003qbd.2	-							NM_001012279	NP_001012279			hypothetical protein LOC387104 precursor							integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149813468	149813471	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149813468_149813471delTTTT	uc010kic.2	-							NM_139126				peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149856013	149856014	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149856013_149856014delAA	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151336482	151336482	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151336482delT	uc003qob.2	+						MTHFD1L_uc011een.1_Intron|MTHFD1L_uc011eeo.1_Intron|MTHFD1L_uc003qoc.2_Intron	NM_015440	NP_056255			methylenetetrahydrofolate dehydrogenase (NADP+						folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152578100	152578101	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152578100_152578101delTT	uc010kiw.2	-						SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599580	152599580	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599580delT	uc010kiw.2	-						SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
Unknown	0	broad.mit.edu	37	6	154037518	154037518	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154037518delT								RGS17 (585129 upstream) : OPRM1 (294118 downstream)																																			---	---	---	---
FGFR1OP	11116	broad.mit.edu	37	6	167447338	167447338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167447338delT	uc003qvj.2	+						CCR6_uc003qvl.2_Intron|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.2_Intron	NM_007045	NP_008976			FGFR1 oncogene partner isoform a						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(1)	1		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)				T	FGFR1	MPD|NHL								---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170181412	170181412	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170181412delT	uc003qxg.1	+						C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Intron	NM_018341	NP_060811			hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
RSPH10B2	728194	broad.mit.edu	37	7	6006678	6006679	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6006678_6006679insAG	uc003sph.1	-	3	340_341	c.69_70insCT	c.(67-72)TCTGATfs	p.S23fs	RSPH10B2_uc010ktd.1_Frame_Shift_Ins_p.S23fs	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	23_24										ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6781234	6781234	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6781234delT	uc003squ.2	+						PMS2CL_uc003sqv.1_Intron					Homo sapiens PMS2CL mRNA for PMS2-C terminal -like, complete cds.												0																		---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476158	7476158	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476158delA	uc003src.1	-						COL28A1_uc011jxe.1_Intron|COL28A1_uc003srd.2_Intron|COL28A1_uc003sre.1_Intron	NM_001037763	NP_001032852			collagen, type XXVIII precursor						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8198251delT	uc003srm.2	-	7	678	c.611delA	c.(610-612)AACfs	p.N204fs	ICA1_uc010ktr.2_Frame_Shift_Del_p.N204fs|ICA1_uc003srl.2_Frame_Shift_Del_p.N192fs|ICA1_uc003srn.3_Frame_Shift_Del_p.N130fs|ICA1_uc003srp.3_Frame_Shift_Del_p.N203fs|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Frame_Shift_Del_p.N204fs|ICA1_uc003srr.2_Frame_Shift_Del_p.N203fs|ICA1_uc003sro.3_Frame_Shift_Del_p.N204fs|ICA1_uc011jxg.1_Frame_Shift_Del_p.N204fs|ICA1_uc003srs.1_Frame_Shift_Del_p.N204fs	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	204	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18988799	18988800	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18988799_18988800insT	uc003suh.2	+						HDAC9_uc003sue.2_Intron|HDAC9_uc003sui.2_Intron|HDAC9_uc003suj.2_Intron|HDAC9_uc003suk.2_Intron	NM_058176	NP_478056			histone deacetylase 9 isoform 1						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21743993	21743993	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21743993delT	uc003svc.2	+							NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
CBX3	11335	broad.mit.edu	37	7	26251418	26251418	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26251418delT	uc003sxt.2	+						CBX3_uc003sxu.2_Intron|CBX3_uc003sxv.2_Intron	NM_007276	NP_009207			chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			ovary(1)	1																		---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27142248	27142248	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27142248delT	uc003syh.2	-	1						NM_006735	NP_006726			homeobox A2							nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	29760221	29760221	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29760221delT	uc003tai.2	+											Homo sapiens DPY-19-like 2 pseudogene 3 (DPY19L2P3) pseudogene mRNA, complete sequence.																														---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32678981	32678981	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32678981delA	uc011kai.1	+						uc003tcw.2_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
AVL9	23080	broad.mit.edu	37	7	33055170	33055170	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33055170delA	uc011kai.1	+						NT5C3_uc003tdi.2_Intron|NT5C3_uc003tdj.2_Intron|NT5C3_uc003tdk.2_Intron	NM_015060	NP_055875			AVL9 homolog (S. cerevisiase)							integral to membrane					0																		---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36466411	36466411	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36466411delT	uc003tff.2	+						ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	NM_018685	NP_061155			anillin, actin binding protein						cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3																		---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39247285	39247285	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39247285delA	uc003thb.1	+						POU6F2_uc010kxo.2_Intron	NM_007252	NP_009183			POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45003923	45003924	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45003923_45003924insC	uc003tmh.2	-						MYO1G_uc003tmf.2_Intron|MYO1G_uc003tmg.2_Intron|MYO1G_uc010kym.2_Intron	NM_033054	NP_149043			myosin IG							myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48045524	48045524	+	Intron	DEL	T	-	-	rs80067951		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48045524delT	uc003tof.2	-						SUN3_uc010kyq.2_Intron|SUN3_uc003tog.2_Intron|SUN3_uc011kcf.1_Intron	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314550	48314550	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48314550delA	uc003toq.2	+	17	5312	c.5287delA	c.(5287-5289)AAAfs	p.K1763fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.K1266fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1763					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ZNF735	730291	broad.mit.edu	37	7	63674370	63674370	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63674370delT	uc011kdn.1	+							NM_001159524	NP_001152996			zinc finger protein 735						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	65222951	65222951	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65222951delT	uc003tud.1	-						CCT6P1_uc003tug.2_Intron|CCT6P1_uc003tuh.2_Intron|CCT6P1_uc003tui.2_Intron|uc003tuk.1_5'Flank					Homo sapiens hypothetical LOC441242, mRNA (cDNA clone MGC:87648 IMAGE:5267764), complete cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	66347893	66347893	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66347893delA								LOC729156 (38080 upstream) : C7orf42 (38310 downstream)																																			---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73601779	73601779	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73601779delT	uc003uad.1	+						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron	NM_022170	NP_071496			eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77807188	77807188	+	Intron	DEL	A	-	-	rs113984102		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77807188delA	uc003ugx.2	-						MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron	NM_012301	NP_036433			membrane associated guanylate kinase, WW and PDZ							cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83591153	83591153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83591153delA	uc003uhz.2	-							NM_006080	NP_006071			semaphorin 3A precursor						axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)																	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87778219	87778220	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87778219_87778220insT	uc003ujn.2	+						ADAM22_uc003ujk.1_Intron|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Intron	NM_021723	NP_068369			ADAM metallopeptidase domain 22 isoform 1						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847728	88847728	+	Intron	DEL	T	-	-	rs78003398		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847728delT	uc011khi.1	+							NM_181646	NP_857597			zinc finger protein 804B							intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
C7orf63	79846	broad.mit.edu	37	7	89912076	89912077	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89912076_89912077insA	uc010lep.2	+						C7orf63_uc003ukf.2_Intron|C7orf63_uc003ukg.2_Intron|C7orf63_uc011khj.1_Intron|C7orf63_uc011khk.1_Intron	NM_001039706	NP_001034795			hypothetical protein LOC79846 isoform 1								binding			ovary(1)	1																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90376819	90376819	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90376819delT	uc003uky.2	+						CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Intron|CDK14_uc010les.1_Intron|CDK14_uc011khl.1_Intron	NM_012395	NP_036527			PFTAIRE protein kinase 1						cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752766	91752766	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91752766delT	uc003ulm.3	-						CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron	NM_000786	NP_000777			cytochrome P450, family 51, subfamily A,						cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)													---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92000724	92000724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92000724delT	uc003ulw.2	+						ANKIB1_uc010lew.1_5'Flank	NM_019004	NP_061877			ankyrin repeat and IBR domain containing 1								protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92403884	92403884	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92403884delT	uc011khw.1	-						CDK6_uc010lez.2_Intron	NM_001259	NP_001250			cyclin-dependent kinase 6						cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
TMEM130	222865	broad.mit.edu	37	7	98446426	98446426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98446426delT	uc003upo.2	-						TMEM130_uc011kiq.1_Intron|TMEM130_uc011kir.1_Intron|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922			transmembrane protein 130 isoform a							Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98546413	98546413	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98546413delT	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98563215	98563215	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98563215delG	uc003upp.2	+						TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487			transformation/transcription domain-associated						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	98994127	98994128	+	3'UTR	DEL	CC	-	-	rs113663373		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98994127_98994128delCC	uc003uqe.2	-	6						NM_014891	NP_055706			PDGFA associated protein 1						cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99621024	99621024	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99621024delT	uc003usk.1	+						ZKSCAN1_uc003usj.2_Intron|ZKSCAN1_uc003usl.1_Intron|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430			zinc finger protein 36						viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99943553delT	uc003uuk.2	+	4					PILRB_uc003uul.2_5'UTR	NM_013440	NP_038468			paired immunoglobulin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
SPDYE2	441273	broad.mit.edu	37	7	102197784	102197784	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102197784delT	uc011kkx.1	+						UPK3BL_uc003uzy.2_Intron|POLR2J3_uc003uzw.2_Intron|POLR2J3_uc011kkw.1_Intron|SPDYE2_uc003vaa.1_Intron	NM_001031618	NP_001026789			speedy homolog E2												0																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107414307	107414307	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107414307delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107419989	107419989	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107419989delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121597015	121597015	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121597015delA	uc003vjy.2	+						PTPRZ1_uc003vjz.2_Intron	NM_002851	NP_002842			protein tyrosine phosphatase, receptor-type,						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753834	121753834	+	Intron	DEL	A	-	-	rs36059311		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121753834delA	uc003vka.2	-						AASS_uc011knu.1_Intron|AASS_uc011knv.1_Intron|AASS_uc003vkb.2_Intron|AASS_uc011knw.1_Intron	NM_005763	NP_005754			aminoadipate-semialdehyde synthase precursor						protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122316893	122316893	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122316893delT	uc010lkp.2	-						CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424			Ca2+-dependent activator protein for secretion 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
WASL	8976	broad.mit.edu	37	7	123335069	123335069	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123335069delA	uc003vkz.2	-							NM_003941	NP_003932			Wiskott-Aldrich syndrome gene-like protein						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0																		---	---	---	---
C7orf45	136263	broad.mit.edu	37	7	129856477	129856477	+	3'UTR	DEL	A	-	-	rs72394033		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129856477delA	uc003vpp.2	+	3						NM_145268	NP_660311			hypothetical protein LOC136263							integral to membrane					0	Melanoma(18;0.0435)																	---	---	---	---
Unknown	0	broad.mit.edu	37	7	131578776	131578776	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131578776delC								PODXL (337400 upstream) : PLXNA4 (229316 downstream)																																			---	---	---	---
BRAF	673	broad.mit.edu	37	7	140476994	140476994	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140476994delT	uc003vwc.3	-							NM_004333	NP_004324			B-Raf						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	7	148751396	148751396	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148751396delA								PDIA4 (25614 upstream) : ZNF786 (15337 downstream)																																			---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149489374	149489374	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149489374delG	uc010lpk.2	+							NM_198455	NP_940857			SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150923194	150923195	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150923194_150923195delTG	uc003wjp.2	-						ABCF2_uc003wjo.1_Intron	NM_007189	NP_009120			ATP-binding cassette, sub-family F, member 2							ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154172013	154172013	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154172013delT	uc003wlk.2	+						DPP6_uc003wli.2_Intron|DPP6_uc003wlj.2_Intron|DPP6_uc010lqh.1_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron	NM_130797	NP_570629			dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155473256	155473256	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155473256delT	uc010lqk.1	+						RBM33_uc003wme.2_Intron	NM_053043	NP_444271			RNA binding motif protein 33								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155556609	155556609	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155556609delG	uc010lqk.1	+	15	3451	c.3083delG	c.(3082-3084)AGGfs	p.R1028fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.R838fs|RBM33_uc003wmg.2_5'UTR	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1028							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2065595	2065596	+	Intron	DEL	TA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2065595_2065596delTA	uc003wpx.3	+						MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961			myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
LOC349196	349196	broad.mit.edu	37	8	7196263	7196264	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:7196263_7196264delAC	uc010lrk.1	-						uc011kwo.1_Intron					Homo sapiens cDNA FLJ37516 fis, clone BRCAN2000832.												0																		---	---	---	---
FLJ10661	286042	broad.mit.edu	37	8	8098084	8098084	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8098084delA	uc003wsf.3	+							NR_024361				Homo sapiens cDNA FLJ60033 complete cds, highly similar to Protein FAM86A.												0																		---	---	---	---
DEFB134	613211	broad.mit.edu	37	8	11853468	11853468	+	Intron	DEL	A	-	-	rs77552285		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11853468delA	uc011kxn.1	-							NM_001033019	NP_001028191			beta-defensin 134 precursor						defense response to bacterium	extracellular region					0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)														---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14167359	14167359	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14167359delT	uc003wwq.2	-						SGCZ_uc010lss.2_Intron	NM_139167	NP_631906			sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16974262	16974262	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16974262delA	uc003wxd.2	+							NM_181723	NP_859074			EF-hand domain family, member A2							integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
ZDHHC2	51201	broad.mit.edu	37	8	17067785	17067785	+	Intron	DEL	T	-	-	rs4922272		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17067785delT	uc003wxe.2	+							NM_016353	NP_057437			zinc finger, DHHC-type containing 2							integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17826953	17826953	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17826953delT	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_5'Flank|PCM1_uc011kyj.1_5'Flank|PCM1_uc003wyk.3_5'Flank	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17882706	17882707	+	Intron	INS	-	A	A	rs146647405	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17882706_17882707insA	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Intron|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_Intron	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21846489	21846489	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21846489delT	uc003xaa.3	+						XPO7_uc010lti.2_Intron|XPO7_uc010ltk.2_Intron	NM_015024	NP_055839			exportin 7 isoform b						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)														---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25287255	25287255	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25287255delT	uc003xeo.2	-	12					PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104			potassium channel tetramerisation domain							voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26149253	26149253	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26149253delC	uc003xeu.2	+	1					PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_5'Flank	NM_002717	NP_002708			alpha isoform of regulatory subunit B55, protein						protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27348831	27348831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27348831delG	uc003xfu.2	+						EPHX2_uc010lut.1_Intron|EPHX2_uc010luu.2_Intron|EPHX2_uc010luv.2_Intron|EPHX2_uc003xfv.2_Intron|EPHX2_uc010luw.2_Intron	NM_001979	NP_001970			epoxide hydrolase 2, cytoplasmic						aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
C8orf41	80185	broad.mit.edu	37	8	33367554	33367554	+	Intron	DEL	A	-	-	rs79956819		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33367554delA	uc003xjl.3	-						C8orf41_uc003xjk.3_Intron|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Intron|C8orf41_uc003xjn.1_Intron	NM_025115	NP_079391			hypothetical protein LOC80185								binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38875022	38875022	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38875022delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880562	38880562	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38880562delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39694901	39694901	+	Intron	DEL	T	-	-	rs71692514		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39694901delT	uc003xnj.2	-						ADAM2_uc003xnk.2_Intron|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455			ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---
MYST3	7994	broad.mit.edu	37	8	41801617	41801617	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41801617delA	uc010lxb.2	-						MYST3_uc010lxc.2_Intron|MYST3_uc003xon.3_Intron|MYST3_uc010lxd.2_Intron	NM_001099412	NP_001092882			MYST histone acetyltransferase (monocytic						histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)															---	---	---	---
POLB	5423	broad.mit.edu	37	8	42199220	42199220	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42199220delT	uc003xoz.1	+						POLB_uc003xpa.1_Intron|POLB_uc011lcs.1_Intron	NM_002690	NP_002681			DNA-directed DNA polymerase beta						DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)|breast(1)	2	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)								DNA_polymerases_(catalytic_subunits)					---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42552905	42552905	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42552905delG	uc003xpi.1	+							NM_000749	NP_000740			cholinergic receptor, nicotinic, beta						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48586205	48586205	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48586205delT	uc003xqd.2	+						KIAA0146_uc011ldb.1_Intron|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Intron|KIAA0146_uc011ldd.1_Intron|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_Intron|KIAA0146_uc011lde.1_Intron|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Intron|KIAA0146_uc011ldg.1_5'UTR|KIAA0146_uc010lxv.1_Intron	NM_001080394	NP_001073863			hypothetical protein LOC23514												0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48812834	48812834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48812834delA	uc003xqi.2	-						PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835			protein kinase, DNA-activated, catalytic						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51351027	51351028	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51351027_51351028insA	uc010lxy.1	+						SNTG1_uc003xqs.1_Intron|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_Intron	NM_018967	NP_061840			syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59477817	59477817	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59477817delT	uc003xtn.2	+						SDCBP_uc003xto.2_Intron|SDCBP_uc003xtr.2_Intron|SDCBP_uc003xtp.2_Intron|SDCBP_uc003xtq.2_Intron|SDCBP_uc003xts.2_Intron|SDCBP_uc011led.1_Intron	NM_005625	NP_005616			syntenin isoform 1						actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61714076	61714076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61714076delT	uc003xue.2	+							NM_017780	NP_060250			chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66657849	66657850	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66657849_66657850insT	uc003xvq.2	-						PDE7A_uc003xvr.2_Intron|PDE7A_uc003xvp.2_Intron	NM_002604	NP_002595			phosphodiesterase 7A isoform b							cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68044403	68044403	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68044403delA	uc003xxi.2	+						CSPP1_uc003xxg.1_Intron|CSPP1_uc003xxh.1_Intron|CSPP1_uc003xxj.2_Intron|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672			centrosome spindle pole associated protein 1							centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	68319249	68319249	+	IGR	DEL	A	-	-	rs75255829		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68319249delA								ARFGEF1 (63337 upstream) : CPA6 (15157 downstream)																																			---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71037164	71037164	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71037164delG	uc003xyn.1	-						NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531			nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646015	71646015	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71646015delT	uc003xyq.2	+						XKR9_uc010lze.2_Intron|XKR9_uc010lzd.2_Intron	NM_001011720	NP_001011720			XK, Kell blood group complex subunit-related							integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)															---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72969255	72969255	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72969255delA	uc003xza.2	-							NM_007332	NP_015628			ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75937752	75937753	+	Intron	DEL	AT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75937752_75937753delAT	uc003yan.2	+						CRISPLD1_uc011lfk.1_Intron|CRISPLD1_uc011lfl.1_Intron	NM_031461	NP_113649			cysteine-rich secretory protein LCCL domain							extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76463542	76463542	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76463542delA	uc003yaq.2	+						HNF4G_uc003yar.2_Intron	NM_004133	NP_004124			hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	81213788	81213788	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81213788delC								TPD52 (129952 upstream) : ZBTB10 (184066 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	81472059	81472059	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81472059delA								ZBTB10 (37451 upstream) : ZNF704 (78710 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	82530375	82530375	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82530375delT								FABP12 (86825 upstream) : IMPA1 (38776 downstream)																																			---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90936586	90936587	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90936586_90936587delTT	uc003yeg.2	+						OSGIN2_uc003yeh.2_Intron	NM_004337	NP_004328			oxidative stress induced growth inhibitor family						germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)															---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91056917	91056917	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91056917delT	uc003yek.1	+						DECR1_uc011lgc.1_Intron|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350			2,4-dienoyl CoA reductase 1 precursor						fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
TMEM64	169200	broad.mit.edu	37	8	91637754	91637755	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91637754_91637755delAA	uc003yen.2	-	3					TMEM64_uc003yeo.2_3'UTR|TMEM64_uc011lgf.1_3'UTR	NM_001008495	NP_001008495			transmembrane protein 64 isoform 1							integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)															---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92097184	92097184	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92097184delA	uc003yeu.3	+	7					OTUD6B_uc011lgh.1_3'UTR	NM_016023	NP_057107			OTU domain containing 6B											ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	94969529	94969529	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94969529delT								PDP1 (31235 upstream) : CDH17 (169865 downstream)																																			---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95541687	95541687	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95541687delA	uc003ygo.1	-						KIAA1429_uc003ygp.2_Intron|KIAA1429_uc010maz.1_5'Flank	NM_015496	NP_056311			hypothetical protein LOC25962 isoform 1						mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95768113	95768113	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95768113delA	uc003ygx.2	+							NM_181787	NP_861452			dpy-19-like 4							integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95905205	95905205	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95905205delA	uc003yhc.2	-						C8orf38_uc003yhe.1_5'Flank|C8orf38_uc003yhf.2_5'Flank|CCNE2_uc003yhd.2_Intron	NM_057749	NP_477097			cyclin E2						cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)																	---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99264978	99264978	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99264978delT	uc003yil.1	-						NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Intron	NM_024759	NP_079035			NIPA-like domain containing 2							integral to membrane					0																		---	---	---	---
POLR2K	5440	broad.mit.edu	37	8	101164033	101164033	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101164033delT	uc003yjf.2	+							NM_005034	NP_005025			DNA directed RNA polymerase II polypeptide K						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103665676	103665676	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103665676delA	uc011lhk.1	-						KLF10_uc011lhj.1_Intron	NM_005655	NP_005646			Kruppel-like factor 10 isoform a						cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105511791	105511791	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105511791delA	uc003yma.2	-						LRP12_uc003ymb.2_Intron	NM_013437	NP_038465			low density lipoprotein-related protein 12						endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113702411	113702412	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113702411_113702412delTT	uc003ynu.2	-						CSMD3_uc003yns.2_5'Flank|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121327882	121327882	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121327882delA	uc003yox.2	+						COL14A1_uc003yoz.2_Intron	NM_021110	NP_066933			collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122640781	122640781	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122640781delT	uc003yph.2	-							NM_005328	NP_005319			hyaluronan synthase 2							integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368511	124368511	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124368511delA	uc003yqh.3	-						ATAD2_uc011lii.1_Intron|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Intron	NM_014109	NP_054828			ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125025569	125025569	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125025569delA	uc003yqw.2	+						uc003yqx.1_Intron	NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130874724	130874724	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130874724delT	uc003yss.2	-						FAM49B_uc003yst.2_Intron|FAM49B_uc003ysu.2_Intron|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Intron|FAM49B_uc003ysx.2_Intron|FAM49B_uc003ysy.1_Intron	NM_016623	NP_057707			hypothetical protein LOC51571												0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141810338	141810338	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141810338delT	uc003yvu.2	-						PTK2_uc011ljq.1_Intron|PTK2_uc003yvp.2_Intron|PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145003563	145003563	+	Intron	DEL	G	-	-	rs140068101		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145003563delG	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145625525	145625533	+	Intron	DEL	CCCCCCCCC	-	-	rs145341443		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145625525_145625533delCCCCCCCCC	uc003zcj.2	-						CPSF1_uc003zck.1_In_Frame_Del_p.GGG244del|CPSF1_uc011lle.1_Intron|MIR1234_hsa-mir-1234|MI0006324_RNA	NM_013291	NP_037423			cleavage and polyadenylation specific factor 1,						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300456	5300456	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5300456delA	uc003zja.1	-						RLN2_uc003ziz.1_Intron	NM_134441	NP_604390			relaxin 2 isoform 1 preproprotein						female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7128278	7128278	+	Intron	DEL	A	-	-	rs73403349	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7128278delA	uc003zkh.2	+						KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Intron|KDM4C_uc011lmk.1_Intron|KDM4C_uc011lml.1_Intron	NM_015061	NP_055876			jumonji domain containing 2C isoform 1						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8340946	8340946	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8340946delA	uc003zkk.2	-						PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16775804	16775804	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16775804delT	uc003zml.2	-						BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Intron|BNC2_uc003zmr.1_Intron|BNC2_uc003zmp.1_Intron|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Intron|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107			basonuclin 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19370000	19370000	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19370000delT	uc003znq.2	+						DENND4C_uc011lnc.1_Intron|DENND4C_uc011lnd.1_Intron|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_Intron	NM_017925	NP_060395			DENN/MADD domain containing 4C							integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22451039	22451039	+	Intron	DEL	T	-	-	rs41270141	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:22451039delT	uc003zpp.1	+							NM_022160	NP_071443			DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)														---	---	---	---
IFT74	80173	broad.mit.edu	37	9	27060506	27060506	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27060506delT	uc010mja.2	+						IFT74_uc010mjb.2_Intron|IFT74_uc003zqg.3_Intron	NM_001099223	NP_001092693			coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32405448	32405448	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32405448delA	uc003zqw.3	+						ACO1_uc010mjh.1_Intron|ACO1_uc003zqx.3_Intron|ACO1_uc003zqy.3_Intron	NM_002197	NP_002188			aconitase 1						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32493953	32493953	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32493953delA	uc003zra.2	-						DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Intron	NM_014314	NP_055129			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide						detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)														---	---	---	---
DNAJA1	3301	broad.mit.edu	37	9	33034392	33034393	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33034392_33034393insT	uc003zsd.1	+						DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Intron	NM_001539	NP_001530			DnaJ (Hsp40) homolog, subfamily A, member 1						protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)														---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35721531	35721531	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35721531delT	uc003zxt.2	-							NM_006289	NP_006280			talin 1						axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353341	36353342	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36353341_36353342delAA	uc003zzh.2	-						RNF38_uc003zzi.2_Intron|RNF38_uc003zzj.2_Intron|RNF38_uc003zzk.2_Intron|RNF38_uc003zzl.2_Intron|RNF38_uc003zzm.2_Intron	NM_022781	NP_073618			ring finger protein 38 isoform 1								zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
ANKRD20A4	728747	broad.mit.edu	37	9	69391298	69391299	+	Intron	INS	-	TA	TA			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69391298_69391299insTA	uc004afn.2	+						ANKRD20A4_uc010mnw.1_Intron	NM_001098805	NP_001092275			ankyrin repeat domain 20 family, member A4												0																		---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836476	71836476	+	Intron	DEL	T	-	-	rs113816166		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836476delT	uc004ahe.2	+						TJP2_uc011lrs.1_Intron|TJP2_uc011lrt.1_Intron|TJP2_uc004ahd.2_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Intron|TJP2_uc011lrv.1_Intron	NM_004817	NP_004808			tight junction protein 2 (zona occludens 2)						cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	78917033	78917033	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78917033delT								PCSK5 (108695 upstream) : RFK (83400 downstream)																																			---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79890720delC	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79930064	79930064	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79930064delT	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron|VPS13A_uc010mpo.1_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
NXNL2	158046	broad.mit.edu	37	9	91150747	91150747	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91150747delC	uc011ltj.1	+						NXNL2_uc004aqa.2_Intron	NM_001161625	NP_001155097			nucleoredoxin-like 2 isoform 1												0																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95003101	95003101	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95003101delA	uc004art.1	-						IARS_uc004ars.1_Intron|IARS_uc004aru.3_Intron|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	NM_013417	NP_038203			isoleucine tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
C9orf5	23731	broad.mit.edu	37	9	111813112	111813112	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111813112delA	uc004bdt.3	-						C9orf5_uc004bds.3_Intron|C9orf5_uc004bdr.3_Intron	NM_032012	NP_114401			hypothetical protein LOC23731							integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)														---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119065092	119065093	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119065092_119065093insA	uc004bjn.2	+	10	3391_3392	c.3010_3011insA	c.(3010-3012)CAAfs	p.Q1004fs	PAPPA_uc011lxp.1_Frame_Shift_Ins_p.Q699fs|PAPPA_uc011lxq.1_Frame_Shift_Ins_p.Q379fs	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1004					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	127957481	127957481	+	IGR	DEL	A	-	-	rs79479616		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127957481delA								PPP6C (5263 upstream) : RABEPK (5336 downstream)																																			---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129596298	129596299	+	3'UTR	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129596298_129596299delAA	uc004bql.2	+	3					ZBTB43_uc010mxf.2_3'UTR	NM_014007	NP_054726			zinc finger and BTB domain containing 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131742685	131742685	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131742685delT	uc004bws.1	+							NM_015354	NP_056169			nucleoporin 188kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132848815	132848815	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132848815delT	uc004bze.2	+						GPR107_uc004bzb.2_Intron|GPR107_uc004bzc.3_Intron|GPR107_uc011mbx.1_Intron|GPR107_uc004bzd.2_Intron	NM_001136557	NP_001130029			G protein-coupled receptor 107 isoform 1							integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)																---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693635	137693637	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137693635_137693637delAAA	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
NACC2	138151	broad.mit.edu	37	9	138907999	138907999	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138907999delT	uc004cgw.2	-						NACC2_uc010nbh.2_Intron	NM_144653	NP_653254			BTB (POZ) domain containing 14A						negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0																		---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	390739	390739	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:390739delC	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
PITRM1	10531	broad.mit.edu	37	10	3201243	3201243	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3201243delA	uc010qah.1	-						PITRM1_uc001igr.1_Intron|PITRM1_uc001igt.1_Intron|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Intron|PITRM1_uc010qai.1_Intron|PITRM1_uc001igw.1_Intron					SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;						proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7423987	7423988	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7423987_7423988insA	uc009xio.1	-						SFMBT2_uc001ijn.1_Intron|SFMBT2_uc010qay.1_Intron|SFMBT2_uc001ijo.1_Intron	NM_001029880	NP_001025051			Scm-like with four mbt domains 2						regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	13199671	13199672	+	IGR	INS	-	G	G	rs113702003		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13199671_13199672insG								OPTN (19395 upstream) : MCM10 (3909 downstream)																																			---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15197377	15197377	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15197377delT	uc001inz.1	-						NMT2_uc001ioa.1_Intron|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Intron|uc010qca.1_5'Flank	NM_004808	NP_004799			N-myristoyltransferase 2						N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	18198214	18198214	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18198214delT	uc001ipm.2	+							NM_002438	NP_002429			mannose receptor C type 1 precursor						receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26855854	26855855	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26855854_26855855delAA	uc001iss.2	+							NM_019043	NP_061916			amyloid beta (A4) precursor protein-binding,						blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27311456	27311456	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27311456delT	uc001ith.2	-						ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Intron	NM_014915	NP_055730			ankyrin repeat domain 26							centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27458857	27458857	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27458857delT	uc001itm.2	+						MASTL_uc001itl.2_Intron|MASTL_uc009xkw.1_Intron|MASTL_uc009xkx.1_Intron	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30611196	30611196	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30611196delA	uc001iva.3	-						MTPAP_uc001ivb.3_Intron	NM_018109	NP_060579			PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37486587	37486587	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37486587delT	uc001iza.1	+							NM_052997	NP_443723			ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
HSD17B7P2	158160	broad.mit.edu	37	10	38666843	38666843	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38666843delT	uc001izq.2	+							NR_003086				Homo sapiens 17-beta-hydroxysteroid dehydrogenase type VII isoform mRNA, complete cds.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	43189775	43189776	+	5'Flank	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43189775_43189776insA	uc001jah.1	-											Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439.																														---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44104661	44104661	+	Intron	DEL	T	-	-	rs78524172		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44104661delT	uc010qfc.1	+						ZNF485_uc010qfd.1_Intron	NM_145312	NP_660355			zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CXCL12	6387	broad.mit.edu	37	10	44868832	44868832	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44868832delC	uc001jbf.2	-							NM_000609	NP_000600			chemokine (C-X-C motif) ligand 12 (stromal						blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity				0					Dexamethasone(DB01234)													---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49634259	49634259	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49634259delT	uc009xnz.2	+						MAPK8_uc001jgl.2_Intron|MAPK8_uc001jgm.2_Intron|MAPK8_uc001jgo.2_Intron|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Intron|MAPK8_uc010qgk.1_Intron|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635			mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---
PARG	8505	broad.mit.edu	37	10	51466157	51466157	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51466157delA	uc001jih.2	-						uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|AGAP7_uc001jio.2_Intron	NM_003631	NP_003622			poly (ADP-ribose) glycohydrolase						carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	65662136	65662136	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:65662136delT								REEP3 (280165 upstream) : ANXA2P3 (923149 downstream)																																			---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69668900	69668900	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69668900delT	uc001jnd.2	+						SIRT1_uc010qis.1_Intron|SIRT1_uc009xpp.2_Intron|SIRT1_uc001jne.2_Intron	NM_012238	NP_036370			sirtuin 1 isoform a						apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70136913	70136913	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70136913delT	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'UTR	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70140858	70140858	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70140858delA	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71003256	71003257	+	Intron	DEL	TT	-	-	rs33955218		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71003256_71003257delTT	uc001jpf.3	+						HKDC1_uc010qje.1_Intron	NM_025130	NP_079406			hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71917453	71917453	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71917453delA	uc010qjh.1	-						SAR1A_uc010qji.1_Intron|SAR1A_uc010qjj.1_Intron	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179965	72179966	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179965_72179966insT	uc001jrb.2	+							NM_004096	NP_004087			eukaryotic translation initiation factor 4E						negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73887716	73887716	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73887716delA	uc001jst.1	-						ASCC1_uc001jsr.1_Intron|ASCC1_uc001jss.1_Intron|ASCC1_uc001jsu.1_Intron|ASCC1_uc010qju.1_Intron					RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0																		---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75560464delC	uc009xrl.2	+	24	5110	c.5078delC	c.(5077-5079)TCCfs	p.S1693fs	KIAA0913_uc001jve.2_Frame_Shift_Del_p.S1698fs|KIAA0913_uc001jvf.2_Frame_Shift_Del_p.S1511fs|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Frame_Shift_Del_p.S1120fs|KIAA0913_uc010qkr.1_Frame_Shift_Del_p.S1108fs|KIAA0913_uc001jvj.2_Frame_Shift_Del_p.S1108fs|KIAA0913_uc009xrn.1_Frame_Shift_Del_p.S104fs	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1693							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75584959	75584959	+	Intron	DEL	G	-	-	rs137992560	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75584959delG	uc001jvv.1	-						CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc010qkv.1_Intron|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911			calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75893990	75893990	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75893990delA	uc001jwf.2	-						AP3M1_uc001jwg.2_Intron|AP3M1_uc001jwh.2_Intron|AP3M1_uc010qla.1_Intron	NM_207012	NP_996895			adaptor-related protein complex 3, mu 1 subunit						protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)																	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81680656delA	uc001kbf.2	+						MBL1P_uc001kbg.1_RNA					Homo sapiens mannose-binding protein-A pseudogene (MBL1P1) mRNA sequence.												0																		---	---	---	---
RNLS	55328	broad.mit.edu	37	10	90034668	90034668	+	3'UTR	DEL	A	-	-	rs113106989		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90034668delA	uc001kfd.2	-	7					RNLS_uc010qms.1_Intron	NM_018363	NP_060833			renalase isoform 2							extracellular region	oxidoreductase activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	94968105	94968105	+	IGR	DEL	T	-	-	rs76646378		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94968105delT								CYP26A1 (130464 upstream) : MYOF (98082 downstream)																																			---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96094287	96094287	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96094287delA	uc001kjq.1	-							NM_022451	NP_071896			nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98325349	98325349	+	Intron	DEL	T	-	-	rs146162227		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98325349delT	uc001kmm.3	-						TM9SF3_uc010qot.1_Intron	NM_020123	NP_064508			transmembrane 9 superfamily member 3 precursor							integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99221731	99221731	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99221731delA	uc001kns.3	-						MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Intron|MMS19_uc009xvt.2_Intron|MMS19_uc001knr.2_Intron|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Intron|MMS19_uc001knu.1_Intron	NM_022362	NP_071757			MMS19 nucleotide excision repair homolog						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
ERLIN1	10613	broad.mit.edu	37	10	101926992	101926992	+	Intron	DEL	A	-	-	rs75860150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101926992delA	uc001kqn.3	-						ERLIN1_uc001kqo.3_Intron|ERLIN1_uc010qpm.1_Intron	NM_006459	NP_006450			ER lipid raft associated 1						ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding				0		Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)														---	---	---	---
HIF1AN	55662	broad.mit.edu	37	10	102305592	102305592	+	Intron	DEL	T	-	-	rs11817143	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102305592delT	uc001krj.3	+							NM_017902	NP_060372			hypoxia-inducible factor 1, alpha subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111651337	111651337	+	Intron	DEL	T	-	-	rs112429910		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111651337delT	uc001kyp.1	-						XPNPEP1_uc009xxt.1_Intron|XPNPEP1_uc001kyq.1_Intron|XPNPEP1_uc010qrb.1_Intron	NM_020383	NP_065116			X-prolyl aminopeptidase (aminopeptidase P) 1,						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
ACSL5	51703	broad.mit.edu	37	10	114135945	114135945	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114135945delA	uc001kzs.2	+						ACSL5_uc001kzt.2_Intron|ACSL5_uc001kzu.2_5'Flank	NM_203379	NP_976313			acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)														---	---	---	---
VTI1A	143187	broad.mit.edu	37	10	114297977	114297977	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114297977delT	uc001kzy.2	+						VTI1A_uc001kzz.2_Intron	NM_145206	NP_660207			SNARE Vti1a-beta protein						intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116335018	116335018	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116335018delT	uc010qsg.1	-						ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116734855	116734855	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116734855delT	uc001lcd.2	+						TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908			TruB pseudouridine (psi) synthase homolog 1						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)														---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123987553	123987554	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123987553_123987554insT	uc001lfv.2	+						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Intron|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron	NM_206862	NP_996744			transforming, acidic coiled-coil containing							microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789606	127789607	+	Intron	DEL	TT	-	-	rs79010435		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127789606_127789607delTT	uc001ljk.2	-						ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron	NM_003474	NP_003465			ADAM metallopeptidase domain 12 isoform 1						cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624450	5624451	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5624450_5624451insT	uc001mbf.2	+						HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819			tripartite motif-containing 6 and tripartite							intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7655601	7655602	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7655601_7655602insT	uc001mfj.3	+						PPFIBP2_uc010rbb.1_Intron|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Intron|PPFIBP2_uc010rbd.1_Intron|PPFIBP2_uc010rbe.1_Intron|PPFIBP2_uc001mfl.3_Intron|PPFIBP2_uc009yfj.1_Intron	NM_003621	NP_003612			PTPRF interacting protein, binding protein 2						cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8160039	8160040	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8160039_8160040delAA	uc001mgd.2	-						RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Intron|RIC3_uc010rbm.1_Intron|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_078833			resistance to inhibitors of cholinesterase 3							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	20596096	20596096	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20596096delC								PRMT3 (65219 upstream) : SLC6A5 (24850 downstream)																																			---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22233000	22233000	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22233000delA	uc001mqi.2	+						ANO5_uc001mqj.2_Intron	NM_213599	NP_998764			anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844691	22844691	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844691delA	uc001mqp.3	-							NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33589821	33589821	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33589821delG	uc001mup.3	+						C11orf41_uc001mun.1_Intron	NM_012194	NP_036326			hypothetical protein LOC25758							integral to membrane				ovary(2)	2																		---	---	---	---
CAT	847	broad.mit.edu	37	11	34489736	34489736	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34489736delT	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
CAT	847	broad.mit.edu	37	11	34490058	34490059	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34490058_34490059delAA	uc001mvm.2	+						CAT_uc001mvn.2_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34979161	34979161	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34979161delA	uc001mvt.2	+						PDHX_uc010rep.1_Intron|PDHX_uc010req.1_Intron	NM_003477	NP_003468			pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)															---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40135879	40135879	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:40135879delT	uc001mxa.1	-	2					LRRC4C_uc001mxc.1_3'UTR|LRRC4C_uc001mxd.1_3'UTR|LRRC4C_uc001mxb.1_3'UTR	NM_020929	NP_065980			netrin-G1 ligand precursor						regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)																---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47823232	47823232	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47823232delT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47841147	47841148	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47841147_47841148delTT	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	49860159	49860159	+	IGR	DEL	T	-	-	rs112842155		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49860159delT								LOC440040 (28192 upstream) : OR4C13 (113816 downstream)																																			---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57078042	57078042	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57078042delA	uc001njr.2	-						TNKS1BP1_uc001njs.2_Intron|TNKS1BP1_uc009ymd.1_Intron	NM_033396	NP_203754			tankyrase 1-binding protein 1						nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
CLP1	10978	broad.mit.edu	37	11	57428126	57428126	+	Intron	DEL	A	-	-	rs74496835		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57428126delA	uc001nkw.2	+						CLP1_uc010rjw.1_Intron|CLP1_uc009yml.2_Intron	NM_006831	NP_006822			ATP/GTP-binding protein isoform 1						mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1																		---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58379334	58379334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58379334delA	uc001nmx.3	+						ZFP91_uc001nmy.3_Intron|ZFP91-CNTF_uc010rkm.1_Intron	NM_053023	NP_444251			zinc finger protein 91						activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)																---	---	---	---
AIP	9049	broad.mit.edu	37	11	67254767	67254767	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67254767delT	uc001olv.2	+							NM_003977	NP_003968			aryl hydrocarbon receptor interacting protein						protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0														Familial_Isolated_Pituitary_Adenoma_				---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70275373	70275373	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70275373delG	uc001opv.3	+						CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Intron|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Intron	NM_005231	NP_005222			cortactin isoform a							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---
RNF121	55298	broad.mit.edu	37	11	71705621	71705621	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71705621delA	uc001ora.2	+						RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	NM_018320	NP_060790			ring finger protein 121							integral to membrane	zinc ion binding				0																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82894176	82894176	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82894176delT	uc001ozx.3	+							NM_015885	NP_056969			pre-mRNA cleavage complex II protein Pcf11						mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	89769257	89769257	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89769257delA	uc010rua.1	+							NM_020358	NP_065091			ring finger protein 18																														---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92896062	92896062	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92896062delT	uc001pdn.2	-						SLC36A4_uc001pdm.2_Intron	NM_152313	NP_689526			solute carrier family 36 (proton/amino acid						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
CWC15	51503	broad.mit.edu	37	11	94696475	94696475	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94696475delA	uc001pfd.3	-	8						NM_016403	NP_057487			CWC15 homolog						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102647188	102647188	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102647188delA	uc001phg.1	-							NM_002425	NP_002416			matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103128230	103128230	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103128230delT	uc001pho.2	+						DYNC2H1_uc001phn.1_Intron|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869776	104869776	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869776delT	uc010rva.1	-						CASP5_uc010ruz.1_Intron|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338			caspase 5 isoform a precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105929470	105929472	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105929470_105929472delTTT	uc001pja.2	-						KBTBD3_uc001pjb.2_Intron|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841			BTB and kelch domain containing 3											ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111946474	111946475	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111946474_111946475insT	uc001pmr.3	+						PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Intron|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953144	111953144	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953144delT	uc001pmr.3	+						C11orf57_uc001pmu.2_3'UTR|C11orf57_uc001pmw.3_Intron|C11orf57_uc001pmt.3_Intron|C11orf57_uc001pmv.3_Intron|C11orf57_uc001pms.3_Intron	NM_001082970	NP_001076439			hypothetical protein LOC55216 isoform b											breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953289	111953289	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111953289delA	uc001pmr.3	+	6	1153	c.472delA	c.(472-474)AAAfs	p.K158fs	C11orf57_uc001pmw.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmt.3_Frame_Shift_Del_p.K159fs|C11orf57_uc001pmv.3_Frame_Shift_Del_p.K158fs|C11orf57_uc001pms.3_Frame_Shift_Del_p.K130fs	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	158	Lys-rich.									breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)														---	---	---	---
IL18	3606	broad.mit.edu	37	11	112024223	112024223	+	Intron	DEL	T	-	-	rs78854082		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112024223delT	uc001pnb.1	-						IL18_uc001pna.1_5'Flank|IL18_uc009yym.1_Intron	NM_001562	NP_001553			interleukin 18 proprotein						angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113187142	113187142	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113187142delA	uc001pnu.2	+						TTC12_uc001pnv.2_Intron|TTC12_uc001pnw.2_Intron|TTC12_uc001pnx.2_Intron	NM_017868	NP_060338			tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113266217	113266217	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113266217delG	uc001pny.2	+							NM_178510	NP_848605			ankyrin repeat and kinase domain containing 1								ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)														---	---	---	---
REXO2	25996	broad.mit.edu	37	11	114314854	114314854	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114314854delT	uc001poy.2	+						REXO2_uc001poz.2_Intron	NM_015523	NP_056338			small fragment nuclease precursor						nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding				0		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155670	117155670	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155670delA	uc001pqt.2	+						RNF214_uc001pqu.2_Intron|RNF214_uc010rxf.1_Intron	NM_207343	NP_997226			ring finger protein 214								zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
MPZL2	10205	broad.mit.edu	37	11	118130541	118130541	+	Intron	DEL	C	-	-	rs67304385		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118130541delC	uc001psn.2	-						MPZL2_uc001pso.2_Intron|MPZL2_uc001psp.1_3'UTR	NM_005797	NP_005788			myelin protein zero-like 2 precursor						anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120973343	120973343	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120973343delT	uc010rzo.1	+							NM_005422	NP_005413			tectorin alpha precursor						cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125481184	125481184	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125481184delT	uc001qcd.2	+						STT3A_uc001qce.2_Intron|STT3A_uc010sbg.1_Intron|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926			integral membrane protein 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)														---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125496889	125496889	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125496889delA	uc009zbo.2	+						CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Intron|CHEK1_uc009zbp.2_Intron|CHEK1_uc001qcg.3_Intron|CHEK1_uc009zbq.2_Intron|CHEK1_uc001qci.1_Intron	NM_001114122	NP_001107594			checkpoint kinase 1						cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)									Other_conserved_DNA_damage_response_genes					---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128350397	128350398	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128350397_128350398delAA	uc010sbs.1	-						ETS1_uc001qej.2_Intron|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229			v-ets erythroblastosis virus E26 oncogene						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)														---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134072805	134072805	+	Intron	DEL	A	-	-	rs34989286		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134072805delA	uc001qhd.1	-						NCAPD3_uc010scm.1_Intron|NCAPD3_uc009zda.1_Intron	NM_015261	NP_056076			non-SMC condensin II complex, subunit D3						cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)														---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2016939	2016951	+	Intron	DEL	GCCTGGTGAGTAT	-	-	rs113797488		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2016939_2016951delGCCTGGTGAGTAT	uc001qjp.2	-						CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952			voltage-gated calcium channel alpha(2)delta-4							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	6994172	6994172	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6994172delT	uc001qrn.1	+							NM_006992	NP_008923			leucine rich repeat containing 23 isoform b											ovary(1)	1																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10775373	10775373	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10775373delA	uc001qys.2	-							NM_018423	NP_060893			serine/threonine/tyrosine kinase 1							integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14775148	14775148	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14775148delA	uc001rcd.2	-							NM_004963	NP_004954			guanylate cyclase 2C precursor						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15656757	15656757	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15656757delT	uc001rcv.1	+						PTPRO_uc001rcw.1_Intron|PTPRO_uc001rcu.1_Intron	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377827	21377827	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377827delA	uc001req.3	+							NM_006446	NP_006437			solute carrier organic anion transporter family,						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22025423	22025423	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22025423delT	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22035949	22035949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22035949delA	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
KIAA0528	9847	broad.mit.edu	37	12	22625136	22625136	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22625136delA	uc001rfq.2	-						KIAA0528_uc010sir.1_Intron|KIAA0528_uc010sis.1_Intron|KIAA0528_uc010sit.1_Intron|KIAA0528_uc010siu.1_Intron|KIAA0528_uc001rfr.2_Intron	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
BCAT1	586	broad.mit.edu	37	12	24989606	24989606	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24989606delA	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495			branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)													---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25260649	25260649	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25260649delG	uc001rgh.2	+						LRMP_uc010sja.1_Intron|LRMP_uc010sjb.1_Intron|LRMP_uc001rgi.2_Intron|LRMP_uc010sjc.1_Intron|LRMP_uc010sjd.1_Intron	NM_006152	NP_006143			lymphoid-restricted membrane protein						vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)																	---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26377487	26377487	+	Intron	DEL	T	-	-	rs77713712		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26377487delT	uc001rhe.2	+						SSPN_uc001rhd.2_Intron|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077			sarcospan isoform 1						cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26629765	26629765	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26629765delT	uc001rhg.2	-						ITPR2_uc009zjg.1_Intron	NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26807105	26807105	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26807105delA	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26868528	26868529	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26868528_26868529insG	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ERGIC2	51290	broad.mit.edu	37	12	29502923	29502923	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29502923delA	uc001riv.2	-						ERGIC2_uc001riw.2_Intron	NM_016570	NP_057654			PTX1 protein						vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)													---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31435557	31435557	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31435557delA	uc010sjz.1	-	6					FAM60A_uc001rkd.2_3'UTR|FAM60A_uc010ska.1_3'UTR|FAM60A_uc001rke.2_3'UTR|FAM60A_uc010skb.1_RNA|FAM60A_uc001rkc.2_3'UTR	NM_021238	NP_067061			family with sequence similarity 60, member A												0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)																	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40265442	40265442	+	Intron	DEL	T	-	-	rs78698425		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40265442delT	uc010skm.1	-						C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Intron	NM_052885	NP_443117			solute carrier family 2 (facilitated glucose							integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)													HNSCC(50;0.14)			---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45741713	45741713	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45741713delT	uc001roo.2	+						ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Intron|ANO6_uc010slg.1_Intron	NM_001025356	NP_001020527			anoctamin 6 isoform a						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2																		---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46275603	46275603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46275603delT	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.1_Intron|ARID2_uc001rou.1_Intron	NM_152641	NP_689854			AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49445525_49445526insG	uc001rta.3	-	10	1940_1941	c.1940_1941insC	c.(1939-1941)CCAfs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|14.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50824444	50824444	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50824444delT	uc001rwp.1	+						LARP4_uc001rwo.1_Intron|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Intron|LARP4_uc001rws.1_Intron|LARP4_uc001rwm.2_Intron|LARP4_uc001rwn.2_Intron	NM_052879	NP_443111			c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53865350	53865350	+	Intron	DEL	G	-	-	rs149798027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53865350delG	uc001sdl.3	+						PCBP2_uc001sdc.3_Intron|PCBP2_uc001sdb.3_Intron|PCBP2_uc001sde.3_Intron|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Intron|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Intron	NM_001128911	NP_001122383			poly(rC) binding protein 2 isoform d						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0																		---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56494192	56494193	+	Intron	DEL	AG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56494192_56494193delAG	uc001sjh.2	+						ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Intron|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Intron|ERBB3_uc001sjl.2_Intron	NM_001982	NP_001973			erbB-3 isoform 1 precursor						cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56822988	56822988	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56822988delT	uc001slf.2	-						TIMELESS_uc001slg.2_Intron	NM_003920	NP_003911			timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56865713	56865713	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56865713delG	uc001slj.2	-						GLS2_uc009zos.2_Intron|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399			glutaminase 2 precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57562807	57562807	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57562807delG	uc001snd.2	+						LRP1_uc009zpi.1_Intron	NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57642161	57642163	+	Intron	DEL	TTT	-	-	rs113333044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57642161_57642163delTTT	uc001snp.2	-						STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501			SH3 and cysteine rich domain 3						intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TSFM	10102	broad.mit.edu	37	12	58180702	58180702	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58180702delT	uc001sqi.2	+						TSFM_uc010sse.1_Intron|TSFM_uc001sqh.2_Intron|TSFM_uc010ssf.1_Intron	NM_005726	NP_005717			Ts translation elongation factor, mitochondrial						regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64828782	64828782	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64828782delT	uc001ssb.2	+							NM_007235	NP_009166			tRNA exportin						intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)														---	---	---	---
NUP107	57122	broad.mit.edu	37	12	69126366	69126366	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69126366delA	uc001suf.2	+						NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Intron	NM_020401	NP_065134			nucleoporin 107kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
TSPAN8	7103	broad.mit.edu	37	12	71523013	71523013	+	Intron	DEL	T	-	-	rs112700480		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71523013delT	uc009zrt.1	-						TSPAN8_uc001swk.1_Intron|TSPAN8_uc001swj.1_Intron	NM_004616	NP_004607			transmembrane 4 superfamily member 3						protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)															---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72287221	72287222	+	Intron	DEL	TG	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72287221_72287222delTG	uc001swu.2	+						TBC1D15_uc009zrv.2_Intron|TBC1D15_uc010stt.1_Intron|TBC1D15_uc001swv.2_Intron|TBC1D15_uc001sww.2_Intron	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73057100	73057100	+	3'UTR	DEL	T	-	-	rs77607591		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73057100delT	uc001sxa.2	+	19						NM_013381	NP_037513			thyrotropin-releasing hormone degrading enzyme						cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80658629	80658629	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80658629delA								PPP1R12A (329394 upstream) : PTPRQ (179497 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	12	80706601	80706601	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80706601delT								PPP1R12A (377366 upstream) : PTPRQ (131525 downstream)																																			---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81648872	81648873	+	3'UTR	INS	-	T	T	rs116290027	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81648872_81648873insT	uc001szl.1	+	16					ACSS3_uc001szm.1_3'UTR|ACSS3_uc001szn.1_3'UTR	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MRPL42	28977	broad.mit.edu	37	12	93873154	93873154	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93873154delT	uc001tcr.2	+						MRPL42_uc001tcq.2_Intron|MRPL42_uc001tcs.2_Intron|MRPL42_uc001tct.2_Intron	NM_172177	NP_751917			mitochondrial ribosomal protein L42 isoform a						translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			ovary(2)	2																		---	---	---	---
NR2C1	7181	broad.mit.edu	37	12	95453642	95453642	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95453642delT	uc001tdm.3	-						NR2C1_uc010suu.1_Intron|NR2C1_uc001tdo.3_Intron|NR2C1_uc001tdn.3_Intron	NM_003297	NP_003288			nuclear receptor subfamily 2, group C, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95657043	95657043	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95657043delA	uc001tdz.2	+						VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Intron|VEZT_uc001tdt.2_Intron|VEZT_uc009zsz.1_Intron|VEZT_uc001tdv.2_Intron|VEZT_uc001tdw.1_Intron|VEZT_uc009zta.1_Intron	NM_017599	NP_060069			vezatin, adherens junctions transmembrane							acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97082938	97082938	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97082938delT	uc001tet.1	+							NM_198520	NP_940922			hypothetical protein LOC374467											skin(6)|ovary(1)	7																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100709304	100709304	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100709304delT	uc001thn.2	+						SCYL2_uc009ztw.1_Intron|SCYL2_uc001thm.1_Intron	NM_017988	NP_060458			SCY1-like 2 protein						endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113645153	113645153	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113645153delA	uc001tuv.1	-						IQCD_uc001tuu.2_Intron	NM_138451	NP_612460			IQ motif containing D											ovary(1)	1																		---	---	---	---
SLC24A6	80024	broad.mit.edu	37	12	113748006	113748006	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113748006delC	uc001tvc.2	-						SLC24A6_uc001tuz.2_Intron|SLC24A6_uc001tva.2_Intron|SLC24A6_uc001tvb.2_Intron	NM_024959	NP_079235			solute carrier family 24 member 6 precursor						response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1																		---	---	---	---
VSIG10	54621	broad.mit.edu	37	12	118519823	118519830	+	Intron	DEL	AAAAAAAA	-	-	rs11413291		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118519823_118519830delAAAAAAAA	uc001tws.2	-							NM_019086	NP_061959			V-set and immunoglobulin domain containing 10							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	119633369	119633370	+	IGR	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119633369_119633370insG								HSPB8 (819 upstream) : LOC144742 (88260 downstream)																																			---	---	---	---
RNF10	9921	broad.mit.edu	37	12	120990203	120990203	+	Intron	DEL	A	-	-	rs112757664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120990203delA	uc001typ.3	+						RNF10_uc010szk.1_Intron|RNF10_uc001tyq.3_Intron	NM_014868	NP_055683			ring finger protein 10						negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121690305	121690306	+	Intron	INS	-	CTGGTGATCCGC	CTGGTGATCCGC	rs146470009	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121690305_121690306insCTGGTGATCCGC	uc001tzu.2	-						CAMKK2_uc001tzt.2_Intron|CAMKK2_uc001tzv.2_Intron|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Intron|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron|CAMKK2_uc001uab.2_Intron|CAMKK2_uc001uac.2_Intron	NM_006549	NP_006540			calcium/calmodulin-dependent protein kinase						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122819156	122819156	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122819156delT	uc001ucg.1	-						CLIP1_uc001uch.1_Intron|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947			restin isoform a						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123036453	123036453	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123036453delT	uc001ucv.2	+						KNTC1_uc010taf.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123343928	123343928	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123343928delG	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)														---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123816078	123816078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123816078delT	uc010tap.1	-						SBNO1_uc010tao.1_Intron|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Intron|SBNO1_uc001ueu.2_Intron|SBNO1_uc001uev.2_Intron|SBNO1_uc009zxy.1_Intron	NM_018183	NP_060653			sno, strawberry notch homolog 1								ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124337720	124337720	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124337720delT	uc001uft.3	+							NM_207437	NP_997320			dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130856213	130856213	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130856213delT	uc001uik.2	+	21						NM_004764	NP_004755			piwi-like 1						gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	19761247	19761248	+	IGR	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19761247_19761248delTT								TUBA3C (5311 upstream) : LOC100101938 (75693 downstream)																																			---	---	---	---
LOC100101938	100101938	broad.mit.edu	37	13	19868887	19868888	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19868887_19868888insA	uc010tck.1	-							NR_027248				Homo sapiens cDNA clone IMAGE:5265638.												0																		---	---	---	---
RPL21	6144	broad.mit.edu	37	13	27830554	27830554	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27830554delT	uc001ura.2	+							NM_000982	NP_000973			ribosomal protein L21						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)														---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28845155	28845155	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28845155delA	uc001urz.2	+						PAN3_uc010tdo.1_Intron|PAN3_uc001ury.2_Intron|PAN3_uc001urx.2_Intron	NM_175854	NP_787050			PABP1-dependent poly A-specific ribonuclease						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33320006	33320006	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33320006delT	uc010abf.2	+						PDS5B_uc010abg.2_Intron	NM_015032	NP_055847			PDS5, regulator of cohesion maintenance, homolog						cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33344888delA	uc010abf.2	+	33	4319	c.4161delA	c.(4159-4161)CCAfs	p.P1387fs	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1387					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34400078	34400078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:34400078delT	uc001uuz.2	+						RFC3_uc001uva.2_Intron|RFC3_uc010ted.1_Intron	NM_002915	NP_002906			replication factor C 3 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36006603	36006603	+	Intron	DEL	T	-	-	rs75161455		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36006603delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36219988	36219988	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36219988delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_Intron|NBEA_uc001uvd.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40268934	40268934	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40268934delT	uc001uxh.2	+						COG6_uc001uxi.2_Intron|COG6_uc010acb.2_Intron	NM_020751	NP_065802			component of oligomeric golgi complex 6 isoform						protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46919832	46919832	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46919832delT	uc010acl.2	-						C13orf18_uc010tfy.1_Intron|C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_Intron|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Intron|C13orf18_uc001vbh.3_Intron|C13orf18_uc001vbi.3_Intron	NM_025113	NP_079389			hypothetical protein LOC80183												0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53000038	53000038	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53000038delA	uc001vgs.2	-						VPS36_uc001vgq.2_Intron	NM_016075	NP_057159			vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616753	60616754	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616753_60616754insA	uc001vht.2	-						DIAPH3_uc001vhw.1_Intron|DIAPH3_uc010aed.1_Intron|DIAPH3_uc010aee.1_Intron|uc001vhx.2_Intron	NM_001042517	NP_001035982			diaphanous homolog 3 isoform a						actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176755	79176756	+	Intron	DEL	AC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79176755_79176756delAC	uc001vkv.2	-						uc001vku.1_Intron	NM_006237	NP_006228			POU domain, class 4, transcription factor 1						axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)														---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96251812	96251812	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96251812delA	uc001vmk.2	-						DZIP1_uc001vmj.2_5'UTR|DZIP1_uc001vml.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673085	98673085	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673085delT	uc001vne.2	+							NM_002271	NP_002262			importin 5						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
UBAC2	337867	broad.mit.edu	37	13	100020309	100020309	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100020309delT	uc001voa.3	+						UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Intron	NM_001144072	NP_001137544			UBA domain containing 2 isoform 1							integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101277621	101277621	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101277621delA	uc001vou.2	-						TMTC4_uc001vot.2_Intron|TMTC4_uc010tja.1_Intron|TMTC4_uc001vov.1_3'UTR|TMTC4_uc001vow.1_3'UTR	NM_001079669	NP_001073137			transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103282656	103282656	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103282656delT	uc001vpi.3	+							NM_003291	NP_003282			tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115004335	115004335	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115004335delT	uc001vuk.1	+						CDC16_uc010tkm.1_Intron|CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20818653	20818654	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20818653_20818654insT	uc001vxc.2	+						PARP2_uc001vxd.2_Intron|PARP2_uc001vxb.1_Intron	NM_005484	NP_005475			poly (ADP-ribose) polymerase family, member 2						protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
Unknown	0	broad.mit.edu	37	14	22409536	22409542	+	Intron	DEL	TCTCTTT	-	-	rs57759840		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22409536_22409542delTCTCTTT	uc001wbw.2	+						uc010tmg.1_Intron|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010ajb.1_Intron|uc001wck.2_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22987602	22987602	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22987602delA	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfo.2_Intron|uc001wfp.2_Intron|uc001wfq.1_5'Flank|uc001wfr.1_5'Flank|uc010ajz.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341401	23341401	+	5'UTR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23341401delC	uc001whd.2	+	1					LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764			low density lipoprotein receptor-related protein						endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874770	23874770	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874770delC	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24537607	24537608	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24537607_24537608delAA	uc001wlj.2	+						LRRC16B_uc001wlk.2_Intron|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank	NM_138360	NP_612369			leucine rich repeat containing 16B											ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31112379	31112379	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31112379delA	uc001wqm.1	+						SCFD1_uc001wqn.1_Intron|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_Intron|SCFD1_uc010amf.1_Intron|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Intron	NM_016106	NP_057190			vesicle transport-related protein isoform a						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31549990	31549990	+	Intron	DEL	T	-	-	rs80049494		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31549990delT	uc001wqy.3	+						AP4S1_uc001wqw.3_Intron|AP4S1_uc001wqx.3_Intron|AP4S1_uc010amh.2_Intron|AP4S1_uc001wqz.3_Intron	NM_001128126	NP_001121598			adaptor-related protein complex 4, sigma 1							coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31581823	31581823	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31581823delT	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31777238	31777238	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31777238delA	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31789928	31789928	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31789928delT	uc001wrf.3	-						HEATR5A_uc010ami.2_Intron	NM_015473	NP_056288			HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
NUBPL	80224	broad.mit.edu	37	14	32142486	32142486	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32142486delA	uc001wrk.3	+						NUBPL_uc010amj.2_Intron|NUBPL_uc010tpl.1_Intron	NM_025152	NP_079428			nucleotide binding protein-like						mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)														---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36777407	36777407	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36777407delA	uc001wtm.2	-						MBIP_uc001wto.2_Intron|MBIP_uc010tpy.1_Intron|MBIP_uc001wtn.2_Intron	NM_016586	NP_057670			MAP3K12 binding inhibitory protein 1 isoform 1						histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39545303	39545303	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39545303delA	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_Intron	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39868656	39868656	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39868656delA	uc001wvk.2	-	4						NM_203301	NP_976046			F-box protein 33												0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52936948	52936948	+	Intron	DEL	A	-	-	rs34421151		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52936948delA	uc001wzs.2	-						TXNDC16_uc010tqu.1_Intron|TXNDC16_uc010aoe.2_Intron	NM_020784	NP_065835			thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097034	60097034	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097034delC	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61441971	61441971	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61441971delA	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62234188	62234188	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62234188delT	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62567095	62567095	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62567095delT	uc001xfu.1	+						SYT16_uc010tse.1_Intron	NM_031914	NP_114120			synaptotagmin XIV-like											central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64867679	64867679	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64867679delT	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66135890	66135890	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:66135890delA	uc001xin.2	+						FUT8_uc001xio.2_Intron|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Intron|FUT8_uc001xip.2_Intron|FUT8_uc001xiq.2_Intron|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368			fucosyltransferase 8 isoform a						in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)														---	---	---	---
EIF2S1	1965	broad.mit.edu	37	14	67831815	67831816	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67831815_67831816delAA	uc001xjg.2	+							NM_004094	NP_004085			eukaryotic translation initiation factor 2,							cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)														---	---	---	---
RAD51L1	5890	broad.mit.edu	37	14	68331959	68331960	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68331959_68331960delTT	uc001xkf.1	+						RAD51L1_uc010aqq.2_Intron|RAD51L1_uc001xkd.2_Intron|RAD51L1_uc010aqr.2_Intron|RAD51L1_uc001xke.2_Intron|RAD51L1_uc010aqs.1_Intron|RAD51L1_uc001xkg.1_Intron	NM_133509	NP_598193			RAD51-like 1 isoform 3						blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0				UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)				T	HMGA2	lipoma|uterine leiomyoma			Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
Unknown	0	broad.mit.edu	37	14	70270922	70270923	+	IGR	DEL	TT	-	-	rs11429169		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70270922_70270923delTT								SLC10A1 (6916 upstream) : SMOC1 (75220 downstream)																																			---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70351984	70351986	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70351984_70351986delTTT	uc001xls.1	+						SMOC1_uc001xlt.1_Intron	NM_022137	NP_071420			secreted modular calcium-binding protein 1						cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74153808	74153808	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74153808delA	uc001xoq.3	+						DNAL1_uc010aru.2_Intron|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615			axonemal dynein light chain 1												0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
KIAA0317	9870	broad.mit.edu	37	14	75137987	75137988	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75137987_75137988delTT	uc001xqb.2	-						KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Intron	NM_001039479	NP_001034568			hypothetical protein LOC9870						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)														---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75601712	75601712	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75601712delA	uc001xrm.1	-						TMED10_uc010ash.1_Intron|TMED10_uc010asg.1_Intron|TMED10_uc010tuz.1_Intron	NM_006827	NP_006818			transmembrane emp24 domain-containing protein 10						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)														---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021964	78021964	+	Intron	DEL	T	-	-	rs151267420	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78021964delT	uc001xub.2	-							NM_004863	NP_004854			serine palmitoyltransferase, long chain base							integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670639	81670639	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81670639delT	uc001xvf.1	-						GTF2A1_uc010atb.1_Intron|GTF2A1_uc001xvg.1_Intron|GTF2A1_uc001xvh.1_Intron|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943			TFIIA alpha, p55 isoform 1						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	83158940	83158941	+	IGR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:83158940_83158941insT								None (None upstream) : None (None downstream)																																			---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92482002	92482002	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92482002delA	uc001xzy.2	-						TRIP11_uc010auf.1_Intron	NM_004239	NP_004230			thyroid hormone receptor interactor 11						transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92562289	92562289	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92562289delA	uc001yac.3	-						ATXN3_uc010aug.2_Intron|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984			ataxin 3 reference isoform						cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93282502	93282502	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93282502delT	uc001yaz.1	+							NM_005113	NP_005104			Golgi autoantigen, golgin subfamily a, 5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)				T	RET	papillary thyroid								---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95581844	95581844	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95581844delA	uc001ydw.2	-						DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron	NM_030621	NP_085124			dicer1						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97019076	97019076	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97019076delT	uc001yfq.2	+						PAPOLA_uc001yfr.2_Intron|PAPOLA_uc010twv.1_Intron|PAPOLA_uc010avp.2_Intron	NM_032632	NP_116021			poly(A) polymerase alpha						mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
EML1	2009	broad.mit.edu	37	14	100377967	100377967	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100377967delT	uc001ygs.2	+						EML1_uc010tww.1_Intron|EML1_uc001ygr.2_Intron	NM_004434	NP_004425			echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103441860	103441860	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103441860delA	uc001ymi.1	-							NM_006035	NP_006026			CDC42-binding protein kinase beta						actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
XRCC3	7517	broad.mit.edu	37	14	104165201	104165201	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104165201delG	uc001yny.3	-	10	1355	c.975delC	c.(973-975)CCCfs	p.P325fs	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001ynz.3_Frame_Shift_Del_p.P325fs|XRCC3_uc001yoa.3_Frame_Shift_Del_p.P325fs	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	325					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
NF1P1	440225	broad.mit.edu	37	15	21136692	21136693	+	5'Flank	DEL	CA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:21136692_21136693delCA	uc001ytv.1	-											Human NF1-related locus DNA in A9 mouse DNA background.												0																		---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22870060	22870060	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22870060delT	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22980298	22980299	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22980298_22980299delTT	uc001yus.2	+						CYFIP1_uc001yut.2_Intron|CYFIP1_uc010aya.1_Intron|CYFIP1_uc001yuu.2_Intron|CYFIP1_uc001yuv.2_Intron	NM_014608	NP_055423			cytoplasmic FMR1 interacting protein 1 isoform						axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114116	23114116	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114116delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	23114370	23114370	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23114370delA	uc001yvf.2	-											Homo sapiens cDNA clone IMAGE:5275816.																														---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331164	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23331163_23331164delAA	uc001yvr.2	-						HERC2P2_uc010ayf.1_Intron					RecName: Full=Putative HERC2-like protein 3;												0																		---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222784	25222784	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25222784delA	uc001ywp.1	+						SNRPN_uc001ywq.1_Intron|SNRPN_uc001ywr.1_Intron|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_Intron|SNRPN_uc001ywv.1_Intron|SNRPN_uc001yww.1_Intron|SNRPN_uc001ywx.1_Intron|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_Intron	NM_022807	NP_073718			small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25227367	25227367	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25227367delT	uc001ywz.1	+						PAR-SN_uc001yxa.1_RNA|PAR-SN_uc001yxc.2_RNA|PAR-SN_uc001yxb.3_RNA|PAR5_uc001yxd.2_5'Flank					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26828329	26828330	+	Intron	DEL	TC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26828329_26828330delTC	uc001zaz.2	-						GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron	NM_000814	NP_000805			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473276	28473279	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28473276_28473279delAAAA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28537949	28537949	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28537949delA	uc001zbj.2	-						HERC2_uc001zbl.1_Intron	NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30010055	30010055	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30010055delT	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38792548	38792549	+	Intron	DEL	TG	-	-	rs12904148	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38792548_38792549delTG	uc001zke.3	-						RASGRP1_uc010bbe.2_Intron|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Intron	NM_005739	NP_005730			RAS guanyl releasing protein 1 isoform a						cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)														---	---	---	---
RAD51	5888	broad.mit.edu	37	15	41020654	41020655	+	Intron	DEL	AA	-	-	rs34910367		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41020654_41020655delAA	uc001zmi.3	+						RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Intron|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Intron	NM_002875	NP_002866			RAD51 homolog protein isoform 1						DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)									Homologous_recombination					---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43252975	43252975	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43252975delT	uc001zqq.2	-							NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43317302	43317302	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43317302delT	uc001zqq.2	-						UBR1_uc010udk.1_Intron	NM_174916	NP_777576			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43512848	43512848	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43512848delC	uc001zra.3	-						EPB42_uc001zrb.3_Intron|EPB42_uc010udm.1_Intron	NM_001114134	NP_001107606			erythrocyte membrane protein band 4.2 isoform 2						erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45561372	45561372	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45561372delA	uc001zva.2	+							NM_004212	NP_004203			solute carrier family 28 (sodium-coupled						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48744606	48744606	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48744606delT	uc001zwx.1	-						FBN1_uc010beo.1_Intron	NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49429298	49429298	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49429298delT	uc001zxf.2	-						COPS2_uc001zxh.2_Intron|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227			COP9 constitutive photomorphogenic homolog						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53901640	53901640	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53901640delG	uc002acj.2	-							NM_182758	NP_877435			WD repeat domain 72											lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54915983	54915983	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54915983delT	uc002ack.2	+						UNC13C_uc002acm.2_Intron	NM_001080534	NP_001074003			unc-13 homolog C						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55930705	55930705	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55930705delT	uc002adg.2	-							NM_173814	NP_776175			protogenin precursor						multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59359441	59359443	+	Intron	DEL	TTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59359441_59359443delTTT	uc002afv.2	+						RNF111_uc002afs.2_Intron|RNF111_uc002aft.2_Intron|RNF111_uc002afu.2_Intron|RNF111_uc002afw.2_Intron|RNF111_uc002afx.2_Intron	NM_017610	NP_060080			ring finger protein 111						multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)														---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62242755	62242756	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62242755_62242756delAA	uc002agz.2	-						VPS13C_uc002aha.2_Intron|VPS13C_uc002ahb.1_Intron|VPS13C_uc002ahc.1_Intron	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	62563040	62563040	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62563040delA								C2CD4B (105558 upstream) : MGC15885 (366331 downstream)																																			---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945625	62945626	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945625_62945626delCT	uc002alb.3	+							NM_015059	NP_055874			talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64005110	64005110	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64005110delA	uc002amp.2	-						HERC1_uc010uil.1_Intron	NM_003922	NP_003913			hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64410941	64410941	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64410941delT	uc002amv.2	+						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Intron|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Intron|SNX1_uc010bgw.2_Intron	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64422659	64422659	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64422659delA	uc002amv.2	+						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Intron|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Intron|SNX1_uc010bgw.2_Intron	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64923741	64923741	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64923741delT	uc002ann.2	+							NM_015042	NP_055857			zinc finger protein 609							nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65411613	65411613	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65411613delA	uc002aol.2	-							NM_005707	NP_005698			programmed cell death 7						apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0																		---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621076	65621076	+	3'UTR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65621076delG	uc002aos.2	-	14					IGDCC3_uc002aor.1_3'UTR	NM_004884	NP_004875			putative neuronal cell adhesion molecule											ovary(3)	3																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70949255	70949255	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70949255delA	uc002asr.2	-	19					UACA_uc010uke.1_3'UTR|UACA_uc002asq.2_3'UTR	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70987451	70987451	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70987451delA	uc002asr.2	-						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Intron|UACA_uc010bin.1_Intron	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184328	71184328	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71184328delG	uc002asv.2	-	1	426	c.284delC	c.(283-285)CCGfs	p.P95fs	LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	95							DNA binding|metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615063	73615063	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73615063delC	uc002avp.2	-	8	4365	c.3371delG	c.(3370-3372)GGTfs	p.G1124fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1124	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311041	75311041	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75311041delT	uc002azk.1	+						SCAMP5_uc002azl.1_Intron|SCAMP5_uc002azm.1_Intron|SCAMP5_uc002azn.1_Intron|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417			secretory carrier membrane protein 5						exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1																		---	---	---	---
ISL2	64843	broad.mit.edu	37	15	76633897	76633897	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76633897delC	uc002bbw.1	+							NM_145805	NP_665804			ISL LIM homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	78189163	78189164	+	IGR	INS	-	G	G	rs148372236	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78189163_78189164insG								LINGO1 (200688 upstream) : LOC645752 (17395 downstream)																																			---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78758544	78758544	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78758544delT	uc002bdr.2	+						IREB2_uc010unb.1_Intron|IREB2_uc002bdq.2_Intron	NM_004136	NP_004127			iron-responsive element binding protein 2								4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81636087	81636090	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81636087_81636090delAAAA	uc002bgo.1	-						TMC3_uc010blr.1_Intron|TMC3_uc002bgp.2_Intron	NM_001080532	NP_001074001			transmembrane channel-like 3							integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83330894	83330895	+	Intron	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83330894_83330895insC	uc010uoh.1	-						AP3B2_uc010uoi.1_Intron|AP3B2_uc010uoj.1_Intron|AP3B2_uc010bmp.2_Intron|AP3B2_uc010uog.1_Intron	NM_004644	NP_004635			adaptor-related protein complex 3, beta 2						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
C15orf58	390637	broad.mit.edu	37	15	90784046	90784046	+	Intron	DEL	A	-	-	rs77298979		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90784046delA	uc002bpc.2	+							NM_001013657	NP_001013679			hypothetical protein LOC390637						glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0																		---	---	---	---
BLM	641	broad.mit.edu	37	15	91308328	91308328	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91308328delT	uc002bpr.2	+						BLM_uc010uqh.1_Intron|BLM_uc010uqi.1_Intron|BLM_uc010bnx.2_Intron|BLM_uc002bps.1_Intron	NM_000057	NP_000048			Bloom syndrome protein						double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93444561	93444561	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93444561delT	uc002bsp.2	+						CHD2_uc002bsm.1_Intron|CHD2_uc002bsn.2_Intron|CHD2_uc002bso.1_Intron	NM_001271	NP_001262			chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	97170610	97170610	+	IGR	DEL	C	-	-	rs79611327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:97170610delC								NR2F2 (287120 upstream) : SPATA8 (156069 downstream)																																			---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1612146	1612146	+	Intron	DEL	T	-	-	rs79682362		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1612146delT	uc002cmb.2	-						IFT140_uc002clz.2_Intron	NM_014714	NP_055529			intraflagellar transport 140											ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)																---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367102	3367102	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3367102delT	uc002cut.3	+						ZNF75A_uc002cuv.3_Intron	NM_153028	NP_694573			zinc finger protein 75a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12163132	12163132	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12163132delT	uc002dby.3	+						SNX29_uc010uyx.1_Intron	NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22826303	22826303	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22826303delG	uc002dli.2	+	1	444	c.372delG	c.(370-372)AAGfs	p.K124fs	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	124	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
COG7	91949	broad.mit.edu	37	16	23404439	23404439	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23404439delA	uc002dlo.2	-							NM_153603	NP_705831			component of oligomeric golgi complex 7						intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24960607	24960607	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24960607delT	uc002dnb.2	-						ARHGAP17_uc002dna.2_Intron|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_3'UTR	NM_001006634	NP_001006635			nadrin isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30492667	30492673	+	Intron	DEL	AAAAAAA	-	-	rs138296725		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30492667_30492673delAAAAAAA	uc002dyi.3	+						ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200			integrin alpha L isoform a precursor						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31094274	31094275	+	Intron	DEL	CT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31094274_31094275delCT	uc002eap.2	+							NM_014699	NP_055514			zinc finger protein 646						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46950267	46950267	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46950267delA	uc002eel.2	+						GPT2_uc002eem.2_Intron	NM_133443	NP_597700			glutamic pyruvate transaminase 2 isoform 1						2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50128483	50128484	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50128483_50128484insT	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707236	50707236	+	3'UTR	DEL	A	-	-	rs75121949	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707236delA	uc002egk.2	-	4					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274			sorting nexin 20 isoform 1						cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53705553	53705553	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53705553delA	uc002ehp.2	-						RPGRIP1L_uc002eho.3_Intron|RPGRIP1L_uc010vgy.1_Intron|RPGRIP1L_uc010cbx.2_Intron|RPGRIP1L_uc010vgz.1_Intron|RPGRIP1L_uc002ehq.1_Intron	NM_015272	NP_056087			RPGRIP1-like isoform a						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
GNAO1	2775	broad.mit.edu	37	16	56377906	56377907	+	3'UTR	INS	-	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56377906_56377907insC	uc002eit.3	+	8					GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073			guanine nucleotide binding protein, alpha						dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)																---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58557157	58557157	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58557157delA	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002ent.2_Intron|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	60058501	60058501	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:60058501delT								None (None upstream) : None (None downstream)																																			---	---	---	---
CA7	766	broad.mit.edu	37	16	66886490	66886490	+	Intron	DEL	A	-	-	rs10534176		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66886490delA	uc002eqi.2	+						uc002eqh.2_Intron|CA7_uc002eqj.2_Intron	NM_005182	NP_005173			carbonic anhydrase VII isoform 1						one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)														---	---	---	---
B3GNT9	84752	broad.mit.edu	37	16	67183783	67183783	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67183783delA	uc002erf.2	-	2	927	c.606delT	c.(604-606)TTTfs	p.F202fs	uc002erg.1_Frame_Shift_Del_p.L62fs	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	202	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0																		---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67231626	67231626	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67231626delT	uc002erz.2	+						ELMO3_uc002esa.2_5'Flank|ELMO3_uc002esb.2_5'Flank|ELMO3_uc002esc.2_5'Flank	NM_001950	NP_001941			E2F transcription factor 4						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68355172	68355172	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68355172delA	uc002evy.1	+						PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Intron|PRMT7_uc002evz.1_5'Flank	NM_019023	NP_061896			protein arginine methyltransferase 7						cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74336248	74336248	+	Intron	DEL	T	-	-	rs72459246		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74336248delT	uc002fcq.2	+						PSMD7_uc010vmr.1_Intron	NM_002811	NP_002802			proteasome 26S non-ATPase subunit 7						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0																		---	---	---	---
CTRB1	1504	broad.mit.edu	37	16	75256657	75256657	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75256657delC	uc002fds.2	+							NM_001906	NP_001897			chymotrypsin B1 precursor												0				BRCA - Breast invasive adenocarcinoma(221;0.166)														---	---	---	---
CENPN	55839	broad.mit.edu	37	16	81058306	81058306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81058306delT	uc002ffx.2	+						CENPN_uc010vnl.1_Intron|CENPN_uc010vnm.1_Intron|CENPN_uc002ffy.3_Intron	NM_001100624	NP_001094094			centromere protein N isoform 2						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81087885	81087886	+	Intron	DEL	AC	-	-	rs139808847	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81087885_81087886delAC	uc010chf.2	-							NM_001100873	NP_001094343			chromosome 16 open reading frame 46 isoform 1												0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81094614	81094614	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81094614delA	uc002fgc.3	-	4					C16orf46_uc010chf.2_Intron|C16orf46_uc010vno.1_3'UTR	NM_152337	NP_689550			chromosome 16 open reading frame 46 isoform 2												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	88620072	88620074	+	IGR	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88620072_88620074delAAA								ZFPM1 (18499 upstream) : ZC3H18 (16715 downstream)																																			---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88779687	88779687	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88779687delC	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2568632	2568632	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2568632delT	uc002fuw.3	+						PAFAH1B1_uc010ckb.1_Intron	NM_000430	NP_000421			platelet-activating factor acetylhydrolase,						acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1																		---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3990635	3990635	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3990635delA	uc002fxe.2	-						ZZEF1_uc002fxk.1_Intron	NM_015113	NP_055928			zinc finger, ZZ type with EF hand domain 1								calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
UBE2G1	7326	broad.mit.edu	37	17	4205335	4205335	+	Intron	DEL	C	-	-	rs1866175	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4205335delC	uc002fxs.2	-							NM_003342	NP_003333			ubiquitin-conjugating enzyme E2G 1						protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0																		---	---	---	---
USP6	9098	broad.mit.edu	37	17	5044641	5044642	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5044641_5044642delAA	uc002gau.1	+						USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron	NM_004505	NP_004496			ubiquitin specific protease 6						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5238430	5238430	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5238430delT	uc002gbm.3	+						RABEP1_uc010clc.1_Intron|RABEP1_uc010cld.1_Intron|RABEP1_uc010vsw.1_Intron|RABEP1_uc002gbl.3_Intron|RABEP1_uc002gbj.2_Intron|RABEP1_uc002gbk.2_Intron	NM_004703	NP_004694			rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
RPAIN	84268	broad.mit.edu	37	17	5324587	5324588	+	Intron	DEL	TC	-	-	rs4444392	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5324587_5324588delTC	uc002gbq.2	+						NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Intron|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Intron|RPAIN_uc002gbw.2_Intron	NM_001033002	NP_001028174			RPA interacting protein isoform b						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0																		---	---	---	---
STX8	9482	broad.mit.edu	37	17	9282137	9282137	+	Intron	DEL	A	-	-	rs139246965	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9282137delA	uc002glx.2	-							NM_004853	NP_004844			syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1																		---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9488830	9488830	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9488830delA	uc002gly.2	+						WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Intron	NM_145054	NP_659491			WD40-repeat protein upregulated in HCC isoform							cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	14608988	14608988	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14608988delT								HS3ST3B1 (359496 upstream) : PMP22 (524109 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	17	16745226	16745226	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16745226delC								LOC162632 (37407 upstream) : TNFRSF13B (87623 downstream)																																			---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19684555	19684555	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19684555delC	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19719998	19719998	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19719998delA	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449740delT	uc010crj.2	+	2	782	c.570delT	c.(568-570)TGTfs	p.C190fs	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	190	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27249005	27249005	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27249005delA	uc002hdg.1	-						PHF12_uc010wbb.1_Intron|PHF12_uc002hdi.1_Intron|PHF12_uc002hdj.1_Intron|PHF12_uc010crw.1_Intron|PHF12_uc002hdh.1_Intron	NM_001033561	NP_001028733			PHD finger protein 12 isoform 1						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)															---	---	---	---
NF1	4763	broad.mit.edu	37	17	29559062	29559069	+	Intron	DEL	TTTTTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29559062_29559069delTTTTTTTT	uc002hgg.2	+						NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron|NF1_uc002hgi.1_Intron	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30302737	30302737	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30302737delT	uc002hgs.2	+						SUZ12_uc002hgt.2_Intron	NM_015355	NP_056170			joined to JAZF1						negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)						T	JAZF1	endometrial stromal tumours								---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30500730	30500730	+	Intron	DEL	A	-	-	rs79743579		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30500730delA	uc002hgz.2	+						RHOT1_uc002hgw.2_Intron|RHOT1_uc002hgy.2_Intron|RHOT1_uc002hha.2_Intron|RHOT1_uc010csv.2_Intron|RHOT1_uc002hgx.2_Intron|RHOT1_uc010wby.1_Intron|RHOT1_uc002hhb.2_Intron|RHOT1_uc002hgv.2_Intron	NM_018307	NP_060777			ras homolog gene family, member T1 isoform 3						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)																---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35985898	35985898	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35985898delA	uc002hoi.1	-						DDX52_uc002hoh.1_Intron	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
LOC284100	284100	broad.mit.edu	37	17	36214141	36214141	+	Intron	DEL	A	-	-	rs76035088		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36214141delA	uc002hom.1	-						LOC284100_uc002hon.1_Intron					Homo sapiens cDNA FLJ37577 fis, clone BRCOC2003513, moderately similar to 14-3-3 protein epsilon (14-3-3E).												0																		---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37111288	37111289	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37111288_37111289insT	uc002hrc.2	-							NM_001008777	NP_001008777			F-box protein 47												0																		---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37967635	37967650	+	Intron	DEL	GGAAGGAAGAAAGGAC	-	-	rs138660333	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37967635_37967650delGGAAGGAAGAAAGGAC	uc002hsu.2	-						IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Intron|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_Intron|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613			aiolos isoform 1						B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38548599	38548599	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38548599delA	uc002huq.2	-							NM_001067	NP_001058			DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)													---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40003394	40003394	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40003394delA	uc010cxr.2	+						KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40685495	40685495	+	5'Flank	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40685495delT	uc002hzv.2	+							NM_000263	NP_000254			alpha-N-acetylglucosaminidase precursor							lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
Unknown	0	broad.mit.edu	37	17	41796307	41796311	+	IGR	DEL	TTTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41796307_41796311delTTTTT								MEOX1 (57045 upstream) : SOST (34788 downstream)																																			---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41958597	41958597	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41958597delG	uc010wip.1	-						MPP2_uc002ien.1_Intron|MPP2_uc010wim.1_Intron|MPP2_uc002ieo.1_Intron|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Intron	NM_005374	NP_005365			palmitoylated membrane protein 2						signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)												OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMUB2	79089	broad.mit.edu	37	17	42266286	42266289	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42266286_42266289delTTTT	uc002ifo.2	+						C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Intron|TMUB2_uc010wiu.1_Intron|TMUB2_uc002ifq.2_Intron|TMUB2_uc002ifr.2_Intron|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Intron|TMUB2_uc002ifu.2_Intron|TMUB2_uc002ifv.2_Intron|TMUB2_uc002ifw.1_Intron|TMUB2_uc002ifx.2_Intron|TMUB2_uc002ify.2_5'Flank	NM_001076674	NP_001070142			transmembrane and ubiquitin-like domain							integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
RUNDC3A	10900	broad.mit.edu	37	17	42392043	42392046	+	Intron	DEL	GGGG	-	-	rs67278675		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42392043_42392046delGGGG	uc002igl.3	+						RUNDC3A_uc002igi.2_Intron|RUNDC3A_uc002igj.2_Intron|RUNDC3A_uc002igk.2_Intron	NM_001144825	NP_001138297			RUN domain containing 3A isoform 1						small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45729935	45729935	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45729935delA	uc002ilt.1	+						KPNB1_uc010wkw.1_Intron	NM_002265	NP_002256			karyopherin beta 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133539	46133539	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46133539delT	uc002imz.3	+						NFE2L1_uc002ina.3_Intron|NFE2L1_uc002inb.3_Intron|NFE2L1_uc010wle.1_Intron|NFE2L1_uc010wlf.1_Intron|NFE2L1_uc002inc.1_Intron	NM_003204	NP_003195			nuclear factor erythroid 2-like 1						anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1																		---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46474290	46474292	+	Intron	DEL	AAA	-	-	rs148098474		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46474290_46474292delAAA	uc002ini.1	-						SKAP1_uc002inj.1_Intron|SKAP1_uc010dbd.1_Intron|SKAP1_uc010dbe.1_Intron	NM_003726	NP_003717			src kinase associated phosphoprotein 1 isoform						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0																		---	---	---	---
MYST2	11143	broad.mit.edu	37	17	47904634	47904634	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47904634delT	uc002ipm.2	+						MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Intron|MYST2_uc010wme.1_Intron|MYST2_uc010wmf.1_Intron|MYST2_uc010wmg.1_Intron	NM_007067	NP_008998			MYST histone acetyltransferase 2						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48141615	48141615	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48141615delG	uc010dbl.2	+						ITGA3_uc010dbm.2_Intron	NM_002204	NP_002195			integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48355786	48355786	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48355786delC	uc002iqn.1	+							NM_153229	NP_694961			transmembrane protein 92 precursor							integral to membrane					0																		---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52980936	52980936	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52980936delA	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54305178	54305178	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54305178delT	uc002iun.1	+						uc002iuo.2_5'Flank	NM_153228	NP_694960			ankyrin-repeat and fibronectin type III domain											large_intestine(1)|ovary(1)	2																		---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55754524	55754525	+	Intron	INS	-	TC	TC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55754524_55754525insTC	uc002iuz.1	+						MSI2_uc010wnm.1_Intron	NM_138962	NP_620412			musashi 2 isoform a							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)				T	HOXA9	CML								---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56553399	56553399	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56553399delA	uc002iwi.1	-							NM_001080439	NP_001073908			heat shock transcription factor family member 5							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	57049717	57049718	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57049717_57049718delTT	uc002iwx.2	+						PPM1E_uc010ddd.2_Intron	NM_014906	NP_055721			protein phosphatase 1E						protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)															---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57148100	57148101	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57148100_57148101delAA	uc002iwy.3	-						TRIM37_uc002iwz.3_Intron|TRIM37_uc002ixa.3_Intron|TRIM37_uc010woc.1_Intron	NM_001005207	NP_001005207			tripartite motif-containing 37 protein							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57725154	57725154	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57725154delT	uc002ixq.1	+						CLTC_uc002ixp.2_Intron|CLTC_uc002ixr.1_Intron	NM_004859	NP_004850			clathrin heavy chain 1						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59967306	59967306	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59967306delT	uc002izn.2	-						INTS2_uc002izm.2_Intron	NM_020748	NP_065799			integrator complex subunit 2						snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3																		---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61888619	61888619	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61888619delA	uc002jbu.2	+						DDX42_uc002jbv.2_Intron|DDX42_uc002jbw.1_Intron|DDX42_uc002jbx.2_Intron|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398			DEAD box polypeptide 42 protein						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61913095	61913096	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61913095_61913096delTT	uc010deb.1	-						SMARCD2_uc010wpt.1_Intron|SMARCD2_uc010dea.1_Intron|SMARCD2_uc010dec.1_Intron	NM_001098426	NP_001091896			SWI/SNF-related matrix-associated						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62043618	62043618	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62043618delG	uc002jds.1	-							NM_000334	NP_000325			voltage-gated sodium channel type 4 alpha						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62474233	62474233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62474233delA	uc002jei.2	-							NM_007215	NP_009146			DNA polymerase subunit gamma-2, mitochondrial						DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64125854	64125854	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64125854delT	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	64179497	64179497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64179497delA	uc002jfl.2	-						CCDC46_uc002jfm.2_Intron|CCDC46_uc010dep.2_Intron	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67124603	67124603	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67124603delT	uc002jhw.1	-							NM_080284	NP_525023			ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)																	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74059913	74059915	+	Intron	DEL	CTC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74059913_74059915delCTC	uc002jqk.1	-						SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Intron	NM_014230	NP_055045			signal recognition particle 68kDa						response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1																		---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74477309	74477309	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74477309delG	uc002jrq.1	-						RHBDF2_uc002jrp.1_Intron|RHBDF2_uc002jrr.1_Intron|RHBDF2_uc010wtf.1_Intron|RHBDF2_uc002jrs.1_Intron	NM_024599	NP_078875			rhomboid, veinlet-like 6 isoform 1						negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0																		---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3272865	3272865	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3272865delT	uc010dkl.2	+						MYL12B_uc002klt.3_Intron|MYL12B_uc010wyv.1_Intron	NM_001144944	NP_001138416			myosin regulatory light chain MRCL2 isoform A						axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0																		---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8384458	8384458	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8384458delA	uc002knn.3	+						PTPRM_uc010dkv.2_Intron|PTPRM_uc010wzl.1_Intron	NM_002845	NP_002836			protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
Unknown	0	broad.mit.edu	37	18	10623852	10623852	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10623852delA								NAPG (71090 upstream) : FAM38B (47008 downstream)																																			---	---	---	---
SS18	6760	broad.mit.edu	37	18	23667438	23667438	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23667438delA	uc002kvm.2	-						SS18_uc002kvn.2_Intron|SS18_uc010xbf.1_Intron|SS18_uc010xbg.1_Intron|SS18_uc010xbh.1_Intron|SS18_uc010xbi.1_Intron|SS18_uc010dlz.1_Intron	NM_001007559	NP_001007560			synovial sarcoma translocation, chromosome 18						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28736269	28736270	+	Intron	INS	-	AC	AC			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28736269_28736270insAC	uc002kwn.2	-						DSC1_uc002kwm.2_Intron	NM_024421	NP_077739			desmocollin 1 isoform Dsc1a preproprotein						homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)															---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29796832	29796834	+	Intron	DEL	AAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29796832_29796834delAAA	uc002kxj.3	+							NM_005925	NP_005916			meprin A beta precursor						digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30260121	30260121	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30260121delA	uc002kxm.1	-						KLHL14_uc010dmd.1_Intron	NM_020805	NP_065856			kelch-like 14							cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31241532	31241532	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31241532delA	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33289488	33289488	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33289488delA	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33800306	33800309	+	Intron	DEL	AAAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33800306_33800309delAAAA	uc002kzq.3	+							NM_017947	NP_060417			molybdenum cofactor sulfurase						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43437680	43437681	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43437680_43437681delTT	uc002lbm.2	-							NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43702272	43702273	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43702272_43702273delAA	uc002lbu.2	+						HAUS1_uc002lbv.2_Intron	NM_138443	NP_612452			coiled-coil domain containing 5						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1																		---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278334	54278334	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54278334delA	uc002lgg.2	-						TXNL1_uc010xdz.1_Intron|TXNL1_uc002lgh.2_Intron|TXNL1_uc002lgi.2_Intron|TXNL1_uc002lgj.1_Intron	NM_004786	NP_004777			thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
Unknown	0	broad.mit.edu	37	18	57429216	57429218	+	IGR	DEL	AAG	-	-	rs141641247	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57429216_57429218delAAG								CCBE1 (64572 upstream) : PMAIP1 (137974 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	18	58330371	58330371	+	IGR	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58330371delC								MC4R (290370 upstream) : CDH20 (670617 downstream)																																			---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61459834	61459834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61459834delA	uc002ljl.2	+						SERPINB7_uc002ljm.2_Intron|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Intron	NM_001040147	NP_001035237			serine (or cysteine) proteinase inhibitor, clade						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66503864	66503867	+	Intron	DEL	AAAT	-	-	rs71369199	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66503864_66503867delAAAT	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron|CCDC102B_uc002lkj.1_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67807195	67807195	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67807195delA	uc002lkp.2	-						RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron	NM_173630	NP_775901			rotatin								binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70423460	70423460	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70423460delA	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71825155	71825155	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71825155delT	uc010dqr.1	+							NM_014177	NP_054896			hypothetical protein LOC29090 precursor						protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
PARD6G	84552	broad.mit.edu	37	18	77960837	77960837	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77960837delG	uc002lny.2	-						PARD6G_uc010xfp.1_Intron	NM_032510	NP_115899			PAR-6 gamma protein						cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)														---	---	---	---
HCN2	610	broad.mit.edu	37	19	613828	613828	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:613828delC	uc002lpe.2	+							NM_001194	NP_001185			hyperpolarization activated cyclic						cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
FGF22	27006	broad.mit.edu	37	19	643528	643528	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:643528delG	uc010xfq.1	+	3	437	c.437delG	c.(436-438)AGGfs	p.R146fs	FGF22_uc010xfr.1_Frame_Shift_Del_p.E138fs	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	146					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PRTN3	5657	broad.mit.edu	37	19	843449	843449	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:843449delC	uc002lqa.1	+							NM_002777	NP_002768			myeloblastin						collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2873789	2873789	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2873789delA	uc002lwp.1	+						ZNF556_uc002lwq.2_Intron	NM_024967	NP_079243			zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5278195	5278200	+	Intron	DEL	AAAAAA	-	-	rs147296585		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5278195_5278200delAAAAAA	uc002mbv.2	-						PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Intron|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron|PTPRS_uc002mbz.1_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8151014	8151014	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8151014delG	uc002mjf.2	-						FBN3_uc002mje.2_Intron	NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8176750	8176750	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8176750delC	uc002mjf.2	-							NM_032447	NP_115823			fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
ZNF699	374879	broad.mit.edu	37	19	9408812	9408812	+	Intron	DEL	T	-	-	rs144670815		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9408812delT	uc002mlc.1	-							NM_198535	NP_940937			zinc finger protein 699						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9931194	9931194	+	5'Flank	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9931194delA	uc002mme.2	-						FBXL12_uc002mmd.2_5'Flank|FBXL12_uc002mmf.2_5'Flank|FBXL12_uc002mmg.2_5'Flank|FBXL12_uc002mmh.2_Intron	NM_017703	NP_060173			F-box and leucine-rich repeat protein 12								protein binding			lung(1)|kidney(1)	2																		---	---	---	---
MRPL4	51073	broad.mit.edu	37	19	10369015	10369015	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10369015delG	uc002mnm.2	+						MRPL4_uc002mnn.2_Intron|MRPL4_uc002mno.2_Intron	NM_146387	NP_666499			mitochondrial ribosomal protein L4 isoform a						translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)														---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13445408	13445411	+	Intron	DEL	TGTG	-	-	rs138143360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13445408_13445411delTGTG	uc010dze.2	-						CACNA1A_uc002mwy.3_Intron	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17119514	17119514	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17119514delA	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17294680	17294681	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17294680_17294681delAA	uc010eak.2	+						MYO9B_uc002nfi.2_Intron|MYO9B_uc002nfj.1_Intron	NM_004145	NP_004136			myosin IXB isoform 1						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337542	17337542	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17337542delC	uc002nfp.2	+	2	112	c.110delC	c.(109-111)GCCfs	p.A37fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273703	18273703	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18273703delA	uc002nia.1	+						PIK3R2_uc002nib.1_Intron|PIK3R2_uc010ebi.1_Intron	NM_005027	NP_005018			phosphoinositide-3-kinase, regulatory subunit 2						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20294985	20294985	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20294985delT	uc002nou.2	+							NM_052852	NP_443084			zinc finger protein 486						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	19	21823295	21823295	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21823295delT								ZNF429 (84227 upstream) : ZNF100 (83549 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	19	24116780	24116780	+	Intron	DEL	A	-	-	rs35012860		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24116780delA	uc002nrp.1	-											Homo sapiens cDNA FLJ43698 fis, clone TCERX2000998.																														---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36332583	36332583	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36332583delC	uc002oby.2	-						NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637			nephrin precursor						cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37917100	37917100	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37917100delA	uc002ogi.2	-						ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Intron	NM_152484	NP_689697			zinc finger protein 569						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40384321	40384324	+	Intron	DEL	AGAA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40384321_40384324delAGAA	uc002omp.3	-							NM_003890	NP_003881			Fc fragment of IgG binding protein precursor							extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096142	41096142	+	Intron	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41096142delC	uc002oob.2	+						SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Intron|SHKBP1_uc002ooe.2_Intron|SHKBP1_uc002oof.2_Intron|SHKBP1_uc010xvm.1_Intron|SHKBP1_uc010xvn.1_Intron|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401			SH3KBP1 binding protein 1							voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42824786	42824786	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42824786delT	uc002otk.1	+							NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45315356	45315357	+	Intron	INS	-	AG	AG			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45315356_45315357insAG	uc002ozu.2	+						BCAM_uc002ozt.1_Intron	NM_005581	NP_005572			basal cell adhesion molecule isoform 1						cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46177864	46177865	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46177864_46177865delAA	uc002pcu.1	+						GIPR_uc002pct.1_Intron|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_Intron|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155			gastric inhibitory polypeptide receptor						generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)														---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197715	48197715	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48197715delC	uc002phh.3	+	8	2821	c.2627delC	c.(2626-2628)GCCfs	p.A876fs	GLTSCR1_uc002phi.3_Frame_Shift_Del_p.A634fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	876							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48654327	48654328	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48654327_48654328delAA	uc002pia.1	-						LIG1_uc010xze.1_Intron|LIG1_uc002phz.1_Intron|LIG1_uc002pib.1_Intron|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225			DNA ligase I						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50123757	50123757	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50123757delG	uc002poo.3	+							NM_020719	NP_065770			proline rich 12								DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51853743	51853743	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51853743delT	uc002pwh.2	-						ETFB_uc002pwg.2_Intron	NM_001985	NP_001976			electron-transfer-flavoprotein, beta polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52468066	52468066	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52468066delT	uc002pyd.2	-	5					uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645			zinc finger protein 350						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52819262	52819262	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52819262delT	uc010ydl.1	+						ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Intron|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285			zinc finger protein 480						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	55212296	55212296	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55212296delA								LILRB4 (32452 upstream) : LILRP2 (7305 downstream)																																			---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55397026	55397027	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55397026_55397027insA	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55446085	55446086	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55446085_55446086delTT	uc002qih.3	-						NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Intron|NLRP7_uc010esk.2_Intron|NLRP7_uc010esl.2_Intron	NM_206828	NP_996611			NACHT, leucine rich repeat and PYD containing 7								ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58512233	58512233	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58512233delA	uc002qqw.2	-						ZNF606_uc010yhp.1_Intron|ZNF606_uc002qqx.1_Intron|uc002qqy.1_5'Flank|uc002qqz.1_5'Flank	NM_025027	NP_079303			zinc finger protein 606						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
Unknown	0	broad.mit.edu	37	20	2056532	2056532	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2056532delA								PDYN (81829 upstream) : STK35 (25996 downstream)																																			---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2777466	2777466	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2777466delG	uc002wgu.2	-						CPXM1_uc010gas.2_Intron	NM_019609	NP_062555			carboxypeptidase X, member 1 precursor						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17208173	17208174	+	Intron	INS	-	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17208173_17208174insG	uc002wpm.2	+						PCSK2_uc002wpl.2_Intron|PCSK2_uc010zrm.1_Intron	NM_002594	NP_002585			proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18505351	18505351	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18505351delT	uc002wqz.1	+						SEC23B_uc002wra.1_Intron|SEC23B_uc002wrb.1_Intron|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Intron	NM_006363	NP_006354			Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21338218	21338218	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21338218delT	uc002wsf.1	+						XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_Intron	NM_012255	NP_036387			5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
CST9	128822	broad.mit.edu	37	20	23586076	23586076	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23586076delA	uc002wtl.2	-							NM_001008693	NP_001008693			cystatin 9 precursor							extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)																	---	---	---	---
Unknown	0	broad.mit.edu	37	20	29930733	29930733	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29930733delT								DEFB116 (34345 upstream) : DEFB118 (25695 downstream)																																			---	---	---	---
C20orf185	359710	broad.mit.edu	37	20	31661235	31661235	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31661235delT	uc002wym.1	+							NM_182658	NP_872599			antimicrobial peptide RYA3 precursor						innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4																		---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32199335	32199335	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32199335delT	uc002wzg.1	+						CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Intron|CBFA2T2_uc002wzf.1_Intron|CBFA2T2_uc002wzh.1_Intron|CBFA2T2_uc002wzi.1_Intron|CBFA2T2_uc002wzj.1_Intron	NM_005093	NP_005084			core-binding factor, runt domain, alpha subunit							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2																		---	---	---	---
MIR644	693229	broad.mit.edu	37	20	33054129	33054130	+	RNA	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33054129_33054130insT	hsa-mir-644|MI0003659	+						ITCH_uc002xak.2_Intron|ITCH_uc010geu.1_Intron|ITCH_uc010zuj.1_Intron																	0																		---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34766817	34766817	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34766817delA	uc002xfb.2	+						EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.2_Intron|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288			erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)																	---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35349930	35349931	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35349930_35349931insA	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36361416	36361416	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36361416delA	uc010zvw.1	+	2	257	c.166delA	c.(166-168)AAAfs	p.K56fs	CTNNBL1_uc010zvv.1_Frame_Shift_Del_p.K29fs	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	56					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---
KIAA0406	9675	broad.mit.edu	37	20	36625458	36625458	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36625458delA	uc002xhl.2	-						KIAA0406_uc002xhm.2_Intron	NM_014657	NP_055472			hypothetical protein LOC9675								binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40120107	40120107	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40120107delA	uc002xka.1	-						CHD6_uc002xkd.2_Intron	NM_032221	NP_115597			chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306344	41306344	+	Intron	DEL	C	-	-	rs2425514	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:41306344delC	uc002xkg.2	-						PTPRT_uc010ggj.2_Intron	NM_007050	NP_008981			protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43138337	43138337	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43138337delT	uc002xme.2	-						SERINC3_uc002xmf.1_Intron|SERINC3_uc010ggs.1_Intron|SERINC3_uc010zwp.1_Intron	NM_198941	NP_945179			tumor differentially expressed protein 1							integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45789429	45789430	+	Intron	DEL	TT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45789429_45789430delTT	uc002xsm.2	+						EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Intron|EYA2_uc002xso.2_Intron|EYA2_uc002xsp.2_Intron|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235			eyes absent 2 isoform a						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)																---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52570374	52570374	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52570374delA	uc002xws.2	-						BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648			breast carcinoma amplified sequence 1							cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57598688	57598688	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57598688delG	uc002yak.2	+							NM_030773	NP_110400			beta tubulin 1, class VI						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)													---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62074016	62074021	+	Intron	DEL	CACCAC	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62074016_62074021delCACCAC	uc002yey.1	-						KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron	NM_172107	NP_742105			potassium voltage-gated channel KQT-like protein						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
USP25	29761	broad.mit.edu	37	21	17250893	17250894	+	3'UTR	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17250893_17250894insT	uc002yjy.1	+	24					USP25_uc011aby.1_3'UTR|USP25_uc002yjz.1_3'UTR|USP25_uc010gla.1_3'UTR	NM_013396	NP_037528			ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112407	21112408	+	IGR	DEL	GA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112407_21112408delGA								None (None upstream) : None (None downstream)																																			---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647023	33647023	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647023delT	uc002ypi.2	-						C21orf45_uc011adn.1_Intron	NM_018944	NP_061817			chromosome 21 open reading frame 45						cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34017084	34017084	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34017084delA	uc002yqh.2	-						SYNJ1_uc011ads.1_Intron|SYNJ1_uc002yqf.2_Intron|SYNJ1_uc002yqg.2_Intron|SYNJ1_uc002yqi.2_Intron|SYNJ1_uc002yqe.3_5'Flank	NM_003895	NP_003886			synaptojanin 1 isoform a								inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43541382	43541382	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43541382delT	uc002zaf.1	+						UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc002zal.1_Intron	NM_001004416	NP_001004416			uromodulin-like 1 isoform 1 precursor							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44118958	44118958	+	Intron	DEL	T	-	-	rs1515755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44118958delT	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44514504	44514504	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44514504delT	uc002zda.1	-						U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_Intron|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_3'UTR	NM_001025203	NP_001020374			U2 small nuclear RNA auxillary factor 1 isoform						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47862398	47862398	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47862398delT	uc002zji.3	+						PCNT_uc002zjj.2_Intron	NM_006031	NP_006022			pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
Unknown	0	broad.mit.edu	37	22	16353835	16353835	+	IGR	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16353835delG								POTEH (65898 upstream) : OR11H1 (94991 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	22	16419352	16419352	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16419352delT								POTEH (131415 upstream) : OR11H1 (29474 downstream)																																			---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23744282	23744282	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23744282delG	uc002zxa.3	-						ZDHHC8P1_uc002zxb.3_RNA|ZDHHC8P1_uc002zwz.3_Intron	NR_003950				Homo sapiens cDNA FLJ31568 fis, clone NT2RI2001595.												0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26043916	26043917	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26043916_26043917delAA	uc003abx.3	+						ADRBK2_uc010gux.2_Intron|ADRBK2_uc003abw.2_Intron|ADRBK2_uc003aby.3_Intron	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31985386	31985386	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31985386delA	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
C22orf30	253143	broad.mit.edu	37	22	32084257	32084257	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32084257delT	uc003alp.3	-						C22orf30_uc003alo.1_Intron|C22orf30_uc010gwj.1_Intron	NM_173566	NP_775837			hypothetical protein LOC253143												0																		---	---	---	---
BPIL2	254240	broad.mit.edu	37	22	32812067	32812070	+	Intron	DEL	TTTT	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32812067_32812070delTTTT	uc003amn.2	-						BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592			bactericidal/permeability-increasing							extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2																		---	---	---	---
SOX10	6663	broad.mit.edu	37	22	38370364	38370365	+	Intron	INS	-	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38370364_38370365insT	uc003aun.1	-						POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Intron	NM_006941	NP_008872			SRY (sex determining region Y)-box 10							cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)																	---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38934201	38934201	+	Intron	DEL	A	-	-	rs66487664		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38934201delA	uc003avz.1	-						DMC1_uc011anv.1_Intron	NM_007068	NP_008999			DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40444759	40444760	+	Intron	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40444759_40444760insA	uc003aym.2	+							NM_001024843	NP_001020014			trinucleotide repeat containing 6B isoform 3						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40696634	40696634	+	Intron	DEL	T	-	-	rs77607132		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40696634delT	uc011aor.1	+						TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Intron|TNRC6B_uc003ayo.2_Intron	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40719315	40719315	+	3'UTR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40719315delT	uc011aor.1	+	23					TNRC6B_uc003aym.2_3'UTR|TNRC6B_uc003ayn.3_3'UTR	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086002	47086002	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086002delC	uc003bia.2	-	12	1535	c.1428delG	c.(1426-1428)GGGfs	p.G476fs	CERK_uc010hae.2_Frame_Shift_Del_p.G278fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	476					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
ARSA	410	broad.mit.edu	37	22	51063611	51063611	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)													---	---	---	---
FAM9B	171483	broad.mit.edu	37	X	8993426	8993426	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8993426delA	uc011mhu.1	-						FAM9B_uc011mhv.1_Intron|FAM9B_uc004csh.2_Intron	NM_205849	NP_995321			family with sequence similarity 9, member B							nucleus					0		Hepatocellular(5;0.219)																---	---	---	---
TBL1X	6907	broad.mit.edu	37	X	9665481	9665481	+	Intron	DEL	G	-	-	rs72612809	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:9665481delG	uc010ndq.2	+						TBL1X_uc004csq.3_Intron|TBL1X_uc010ndr.2_Intron|TBL1X_uc004csr.2_Intron|TBL1X_uc004css.2_Intron	NM_001139466	NP_001132938			transducin beta-like 1X isoform a						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)																---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12414136	12414136	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12414136delT	uc004cuz.1	+						FRMPD4_uc011mij.1_Intron	NM_014728	NP_055543			FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645058	13645058	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645058delT	uc004cvi.2	+						EGFL6_uc004cvj.2_Intron	NM_015507	NP_056322			epidermal growth factor-like protein 6						cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16867569	16867569	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16867569delT	uc004cxt.2	-						RBBP7_uc004cxs.1_Intron|RBBP7_uc004cxu.2_Intron	NM_002893	NP_002884			retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18275212	18275212	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18275212delA	uc004cyl.2	-						SCML2_uc004cyk.3_Intron|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080			sex comb on midleg-like 2						anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	26523591	26523591	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26523591delA								MAGEB6 (309829 upstream) : VENTXP1 (52863 downstream)																																			---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29301000	29301000	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:29301000delT	uc004dby.2	+							NM_014271	NP_055086			interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31144834	31144834	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31144834delA	uc004dda.1	-						DMD_uc004dcq.1_Intron|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Intron|DMD_uc004dcu.1_Intron|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc004dcm.1_Intron|DMD_uc004dcn.1_Intron|DMD_uc004dco.1_Intron|DMD_uc004dcp.1_Intron|DMD_uc011mkb.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
CXorf30	645090	broad.mit.edu	37	X	36392862	36392862	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:36392862delT	uc011mkc.1	+							NM_001098843	NP_001092313			hypothetical protein LOC645090											lung(2)|breast(1)	3																		---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38144668	38144668	+	3'UTR	DEL	T	-	-	rs66997072		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38144668delT	uc004ded.1	-	15					RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025			retinitis pigmentosa GTPase regulator isoform C						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40540221	40540221	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40540221delA	uc004dex.3	-							NM_004229	NP_004220			mediator complex subunit 14						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
MAOA	4128	broad.mit.edu	37	X	43572141	43572141	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43572141delA	uc004dfy.2	+						MAOA_uc011mkw.1_Intron	NM_000240	NP_000231			monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)													---	---	---	---
PHF16	9767	broad.mit.edu	37	X	46884358	46884358	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46884358delT	uc004dgx.2	+						PHF16_uc004dgy.2_Intron	NM_001077445	NP_001070913			PHD finger protein 16						histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48297697	48297697	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48297697delA								SSX4 (44912 upstream) : SLC38A5 (19231 downstream)																																			---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48372756	48372756	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48372756delG	uc010nie.1	+						PORCN_uc004djr.1_Intron|PORCN_uc004djs.1_Intron|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Intron|PORCN_uc004djw.1_Intron	NM_203475	NP_982301			porcupine isoform D						Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	48635377	48635378	+	IGR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48635377_48635378insA								GLOD5 (3315 upstream) : GATA1 (9604 downstream)																																			---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52681587	52681587	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52681587delA	uc004dqx.1	-							NM_173358	NP_775494			synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)																	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53285127	53285127	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64751477	64751477	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64751477delA	uc004dwa.1	-						LAS1L_uc004dwc.1_Intron|LAS1L_uc004dwd.1_Intron	NM_031206	NP_112483			LAS1-like							MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70626407	70626407	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70626407delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron|TAF1_uc004dzv.3_Intron|TAF1_uc010nld.1_5'Flank|TAF1_uc010nle.1_5'Flank|TAF1_uc010nlf.1_5'Flank|TAF1_uc004dzx.2_5'Flank|TAF1_uc004dzy.2_5'Flank	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
Unknown	0	broad.mit.edu	37	X	71492424	71492424	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71492424delA								PIN4 (7612 upstream) : RPS4X (30 downstream)																																			---	---	---	---
ATRX	546	broad.mit.edu	37	X	76763680	76763680	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76763680delA	uc004ecp.3	-	35					ATRX_uc004ecq.3_3'UTR|ATRX_uc004eco.3_3'UTR	NM_000489	NP_000480			transcriptional regulator ATRX isoform 1						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
Unknown	0	broad.mit.edu	37	X	81762218	81762218	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:81762218delT								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	83996004	83996004	+	IGR	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83996004delT								HDX (238546 upstream) : UBE2DNL (193153 downstream)																																			---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100383497	100383497	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100383497delA	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106066802	106066802	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106066802delT	uc004emo.2	+						MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Intron|TBC1D8B_uc004emn.2_Intron	NM_017752	NP_060222			TBC1 domain family, member 8B (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109441522	109441522	+	3'UTR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109441522delA	uc004eoo.2	-	6					AMMECR1_uc004eop.2_3'UTR|AMMECR1_uc004eoq.2_3'UTR	NM_015365	NP_056180			AMMECR1 protein isoform 1												0																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	110035534	110035534	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110035534delA	uc004eou.3	-						CHRDL1_uc004eov.2_5'Flank|CHRDL1_uc004eow.2_Intron|CHRDL1_uc010nps.2_Intron|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Intron	NM_001143981	NP_001137453			chordin-like 1 isoform 1 precursor						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110506864	110506864	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110506864delA	uc004epc.1	-						CAPN6_uc011msu.1_Intron	NM_014289	NP_055104			calpain 6						microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114877477	114877477	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114877477delT	uc004eqd.2	+						PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Intron|PLS3_uc004eqe.2_Intron|PLS3_uc011mtg.1_Intron|PLS3_uc011mth.1_Intron|PLS3_uc011mti.1_Intron|PLS3_uc011mtj.1_Intron|PLS3_uc011mtk.1_5'Flank|PLS3_uc011mtl.1_5'Flank	NM_005032	NP_005023			plastin 3							cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115303402	115303402	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115303402delT	uc004eqh.3	+							NM_000686	NP_000677			angiotensin II receptor, type 2						behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117527389	117527389	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117527389delA	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119387139	119387139	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119387139delA	uc004esn.1	+						ZBTB33_uc010nqm.1_Intron	NM_006777	NP_006768			kaiso						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119580473	119580474	+	Intron	DEL	AA	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119580473_119580474delAA	uc004est.3	-						LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Intron|LAMP2_uc010nqp.1_Intron	NM_002294	NP_002285			lysosomal-associated membrane protein 2 isoform						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1																		---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129204831	129204831	+	Intron	DEL	G	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129204831delG	uc004evd.3	-						ELF4_uc004eve.3_Intron	NM_001421	NP_001412			E74-like factor 4						natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1								T	ERG	AML								---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132897776	132897776	+	Intron	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132897776delA	uc004exe.1	-						GPC3_uc010nrn.1_Intron|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_Intron	NM_004484	NP_004475			glypican 3 isoform 2 precursor							extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)							T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	X	133406914	133406914	+	IGR	DEL	A	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133406914delA								CCDC160 (27108 upstream) : PHF6 (100428 downstream)																																			---	---	---	---
HPRT1	3251	broad.mit.edu	37	X	133609078	133609078	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133609078delT	uc004exl.3	+						HPRT1_uc010nrs.2_Intron	NM_000194	NP_000185			hypoxanthine phosphoribosyltransferase 1						adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity				0	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)													---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134683426	134683426	+	Intron	DEL	T	-	-			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134683426delT	uc004eyw.3	+							NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135046953	135046954	+	3'UTR	INS	-	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135046953_135046954insA	uc004ezi.1	-	4					MMGT1_uc011mvw.1_3'UTR	NM_173470	NP_775741			membrane magnesium transporter 1 precursor							early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
SAMD11	148398	broad.mit.edu	37	1	879321	879321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:879321G>A	uc001abw.1	+	14	1914	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	SAMD11_uc001abx.1_Missense_Mutation_p.A475T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	612						nucleus					0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	985290	985290	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:985290C>T	uc001ack.1	+	27	4802	c.4752C>T	c.(4750-4752)ACC>ACT	p.T1584T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1584	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	987126	987126	+	Missense_Mutation	SNP	C	T	T	rs138113721		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:987126C>T	uc001ack.1	+	33	5632	c.5582C>T	c.(5581-5583)GCG>GTG	p.A1861V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1861					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
UBE2J2	118424	broad.mit.edu	37	1	1190610	1190610	+	Silent	SNP	G	A	A	rs147177041		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1190610G>A	uc001adn.2	-	7	1063	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	UBE2J2_uc001adm.2_Silent_p.Y216Y|UBE2J2_uc001ado.2_Silent_p.Y267Y|UBE2J2_uc001adp.2_Silent_p.Y251Y|UBE2J2_uc001adq.2_Silent_p.Y199Y|UBE2J2_uc001adr.2_Silent_p.Y199Y|UBE2J2_uc001ads.2_Silent_p.Y199Y	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	251	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)														---	---	---	---
CPSF3L	54973	broad.mit.edu	37	1	1249150	1249150	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1249150C>T	uc001aee.1	-	9	977	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.A313T|CPSF3L_uc009vjz.1_Missense_Mutation_p.A285T|CPSF3L_uc010nyj.1_Missense_Mutation_p.A278T|CPSF3L_uc001aeg.1_Missense_Mutation_p.A183T|CPSF3L_uc001aeh.1_Missense_Mutation_p.A206T|CPSF3L_uc001aei.1_Missense_Mutation_p.A209T|CPSF3L_uc001aej.1_Missense_Mutation_p.A134T|CPSF3L_uc001aek.1_Missense_Mutation_p.A49T	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	307						Golgi apparatus|nucleus	hydrolase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)														---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1275509	1275509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1275509C>T	uc001aer.3	-	8	865	c.818G>A	c.(817-819)CGT>CAT	p.R273H	DVL1_uc002quu.2_Translation_Start_Site|DVL1_uc009vka.2_Translation_Start_Site|DVL1_uc001aeu.1_Translation_Start_Site	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	273	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290077	1290077	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290077C>T	uc001aew.2	-	5	965	c.934G>A	c.(934-936)GGC>AGC	p.G312S	MXRA8_uc001aex.3_Missense_Mutation_p.G312S|MXRA8_uc001aey.3_Missense_Mutation_p.G312S|MXRA8_uc010nyl.1_Missense_Mutation_p.G312S|MXRA8_uc001aez.2_Missense_Mutation_p.G211S|MXRA8_uc001afa.2_Missense_Mutation_p.G303S	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	312	Extracellular (Potential).					integral to membrane					0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1325706	1325706	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1325706C>T	uc001afi.2	-	8	942	c.910G>A	c.(910-912)GCT>ACT	p.A304T	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A82T|CCNL2_uc001afg.1_Missense_Mutation_p.A82T|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	304					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)														---	---	---	---
MORN1	79906	broad.mit.edu	37	1	2288909	2288909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2288909G>A	uc001ajb.1	-	10	1019	c.998C>T	c.(997-999)GCC>GTC	p.A333V	MORN1_uc009vld.2_Missense_Mutation_p.A309V|MORN1_uc001ajd.1_Missense_Mutation_p.A333V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)														---	---	---	---
PANK4	55229	broad.mit.edu	37	1	2447082	2447082	+	Silent	SNP	G	A	A	rs143863716	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2447082G>A	uc001ajm.1	-	10	1302	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PANK4_uc010nza.1_Silent_p.Y392Y	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	431					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3394499	3394499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3394499G>A	uc001akg.3	+	11	1782	c.1534G>A	c.(1534-1536)GAA>AAA	p.E512K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E224K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E224K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E216K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3395096	3395096	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3395096C>T	uc001akg.3	+	12	1982	c.1734C>T	c.(1732-1734)TCC>TCT	p.S578S	ARHGEF16_uc001aki.2_Silent_p.S290S|ARHGEF16_uc001akj.2_Silent_p.S290S|ARHGEF16_uc010nzh.1_Silent_p.S282S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3417801	3417801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3417801C>T	uc001akl.2	-	19	2613	c.2386G>A	c.(2386-2388)GAC>AAC	p.D796N	MEGF6_uc001akk.2_Missense_Mutation_p.D691N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	796	EGF-like 13.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
WDR8	49856	broad.mit.edu	37	1	3552529	3552529	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3552529T>C	uc001ako.2	-	6	690	c.582A>G	c.(580-582)GCA>GCG	p.A194A	WDR8_uc001akn.3_Silent_p.A194A|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	194	WD 3.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3669074	3669074	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3669074C>A	uc001akv.2	+	1	110	c.29C>A	c.(28-30)CCC>CAC	p.P10H		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	10										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	6008211	6008211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6008211A>G	uc001alq.1	-	8	1177	c.911T>C	c.(910-912)GTT>GCT	p.V304A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	304					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6172337	6172337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6172337T>A	uc001amb.1	-	35	5103	c.5003A>T	c.(5002-5004)GAT>GTT	p.D1668V	CHD5_uc001alz.1_Missense_Mutation_p.D525V|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6202212	6202212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6202212A>G	uc001amb.1	-	15	2512	c.2412T>C	c.(2410-2412)AGT>AGC	p.S804S	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6311498	6311498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6311498C>A	uc001amp.1	-	4	1139	c.879G>T	c.(877-879)CTG>CTT	p.L293L	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314057	6314057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6314057G>A	uc001amp.1	-	3	767	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	169	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
TNFRSF25	8718	broad.mit.edu	37	1	6521665	6521665	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6521665G>T	uc001ane.2	-	10	1171	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	TNFRSF25_uc001ana.2_Silent_p.I178I|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.I134I|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.I324I|TNFRSF25_uc001ang.2_Silent_p.I316I|TNFRSF25_uc001anh.2_Silent_p.I370I	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	361	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6649079	6649079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6649079T>C	uc009vmc.1	+	11	1997	c.1874T>C	c.(1873-1875)GTG>GCG	p.V625A	ZBTB48_uc001anx.2_Missense_Mutation_p.V625A|ZBTB48_uc009vmd.1_Missense_Mutation_p.V625A|ZBTB48_uc001any.1_Missense_Mutation_p.V263A	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	625						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6712987	6712987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6712987C>T	uc001aof.2	-	6	638	c.532G>A	c.(532-534)GCC>ACC	p.A178T	DNAJC11_uc010nzt.1_Missense_Mutation_p.A140T|DNAJC11_uc001aog.2_Missense_Mutation_p.A178T|DNAJC11_uc010nzu.1_Missense_Mutation_p.A88T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	178					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6885143	6885143	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6885143T>C	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7797373	7797373	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7797373G>A	uc001aoi.2	+	15	3608	c.3401G>A	c.(3400-3402)CGT>CAT	p.R1134H	CAMTA1_uc010nzv.1_Missense_Mutation_p.R221H|CAMTA1_uc001aok.3_Missense_Mutation_p.R177H|CAMTA1_uc001aoj.2_Missense_Mutation_p.R90H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7798045	7798045	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7798045T>G	uc001aoi.2	+	16	3892	c.3685T>G	c.(3685-3687)TCT>GCT	p.S1229A	CAMTA1_uc010nzv.1_Missense_Mutation_p.S316A|CAMTA1_uc001aok.3_Missense_Mutation_p.S272A|CAMTA1_uc001aoj.2_Missense_Mutation_p.S185A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
PER3	8863	broad.mit.edu	37	1	7887864	7887864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887864C>T	uc001aoo.2	+	17	3026	c.2851C>T	c.(2851-2853)CAA>TAA	p.Q951*	PER3_uc009vmg.1_Nonsense_Mutation_p.Q959*|PER3_uc009vmh.1_Nonsense_Mutation_p.Q952*|PER3_uc001aop.2_Nonsense_Mutation_p.Q959*|PER3_uc010nzw.1_Nonsense_Mutation_p.Q640*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8418702	8418702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8418702G>A	uc001ape.2	-	21	4703	c.3893C>T	c.(3892-3894)ACC>ATC	p.T1298I	RERE_uc001apf.2_Missense_Mutation_p.T1298I|RERE_uc001apd.2_Missense_Mutation_p.T744I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1298					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8568729	8568729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8568729A>G	uc001ape.2	-	9	1646	c.836T>C	c.(835-837)CTG>CCG	p.L279P	RERE_uc001apf.2_Missense_Mutation_p.L279P|RERE_uc010nzx.1_Missense_Mutation_p.L11P|RERE_uc001aph.1_Missense_Mutation_p.L279P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	279	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8684437	8684437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8684437A>G	uc001ape.2	-	4	1138	c.328T>C	c.(328-330)TGT>CGT	p.C110R	RERE_uc001apf.2_Missense_Mutation_p.C110R|RERE_uc001aph.1_Missense_Mutation_p.C110R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	110	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
GPR157	80045	broad.mit.edu	37	1	9188749	9188749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9188749C>T	uc001apq.1	-	1	481	c.338G>A	c.(337-339)CGC>CAC	p.R113H	GPR157_uc010oad.1_Missense_Mutation_p.R113H|GPR157_uc001apr.2_Missense_Mutation_p.R113H|GPR157_uc001aps.2_Silent_p.A161A	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	113	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
CTNNBIP1	56998	broad.mit.edu	37	1	9910819	9910819	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9910819A>G	uc001aqk.1	-	6	510	c.203T>C	c.(202-204)GTG>GCG	p.V68A	CTNNBIP1_uc001aql.1_Missense_Mutation_p.V68A	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	68					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10165777	10165777	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10165777T>A	uc001aqs.3	+	6	1497	c.784T>A	c.(784-786)TCC>ACC	p.S262T	UBE4B_uc001aqr.3_Missense_Mutation_p.S262T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	262					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10231209	10231209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10231209G>A	uc001aqs.3	+	25	4060	c.3347G>A	c.(3346-3348)CGA>CAA	p.R1116Q	UBE4B_uc001aqr.3_Missense_Mutation_p.R987Q|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R571Q|UBE4B_uc001aqu.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1116					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10423365	10423365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10423365A>G	uc001aqx.3	+	41	4531	c.4329A>G	c.(4327-4329)GAA>GAG	p.E1443E	KIF1B_uc001aqw.3_Silent_p.E1397E|KIF1B_uc001aqy.2_Silent_p.E1417E|KIF1B_uc001aqz.2_Silent_p.E1443E|KIF1B_uc001ara.2_Silent_p.E1403E|KIF1B_uc001arb.2_Silent_p.E1429E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1443					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DFFA	1676	broad.mit.edu	37	1	10523179	10523179	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10523179T>C	uc001arj.2	-	5	817	c.719A>G	c.(718-720)CAC>CGC	p.H240R	DFFA_uc001ark.2_Missense_Mutation_p.H240R	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	240					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10714658	10714658	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10714658A>G	uc001aro.2	-						CASZ1_uc001arp.1_Intron|CASZ1_uc009vmx.2_Intron	NM_001079843	NP_001073312			castor homolog 1, zinc finger isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10720009	10720009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10720009C>T	uc001aro.2	-	6	1410	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	CASZ1_uc001arp.1_Missense_Mutation_p.A364T|CASZ1_uc009vmx.2_Missense_Mutation_p.A388T|CASZ1_uc001arq.1_Missense_Mutation_p.A223T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187061	11187061	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187061T>C	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11313937	11313937	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11313937T>C	uc001asd.2	-	6	920	c.799A>G	c.(799-801)ATC>GTC	p.I267V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	267					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11580746	11580746	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11580746C>T	uc001ash.3	+	10	2341	c.2203C>T	c.(2203-2205)CTG>TTG	p.L735L	PTCHD2_uc001asi.1_Silent_p.L735L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	735	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11591735	11591735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11591735C>T	uc001ash.3	+	17	3481	c.3343C>T	c.(3343-3345)CGC>TGC	p.R1115C		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1115	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11595642	11595642	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11595642G>A	uc001ash.3	+	20	3895	c.3757G>A	c.(3757-3759)GTC>ATC	p.V1253I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1253	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12018613	12018613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12018613A>G	uc001atm.2	+	9	975	c.884A>G	c.(883-885)GAA>GGA	p.E295G	PLOD1_uc010obb.1_Missense_Mutation_p.E342G	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	295					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12198386	12198386	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12198386A>G	uc001atq.2	+	14	1658	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNFRSF8_uc010obc.1_Missense_Mutation_p.Y367C|TNFRSF8_uc001atr.2_Missense_Mutation_p.Y16C|TNFRSF8_uc001ats.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	479	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AADACL4	343066	broad.mit.edu	37	1	12726188	12726188	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12726188T>A	uc001auf.2	+	4	666	c.666T>A	c.(664-666)TAT>TAA	p.Y222*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	222	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)														---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12855624	12855624	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12855624T>C	uc001auj.1	+	4	1007	c.904T>C	c.(904-906)TAT>CAT	p.Y302H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	302											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
LOC649330	649330	broad.mit.edu	37	1	12907311	12907311	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12907311C>T	uc009vno.2	-	1	927	c.832G>A	c.(832-834)GAG>AAG	p.E278K	HNRNPCL1_uc010obf.1_Missense_Mutation_p.E278K	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	278							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14059379	14059379	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14059379T>C	uc001avi.2	+	4	1087	c.231_splice	c.e4+2	p.E77_splice	PRDM2_uc001avg.2_Splice_Site_p.E77_splice|PRDM2_uc001avh.2_Splice_Site_p.E77_splice|PRDM2_uc001avj.2_Intron	NM_012231	NP_036363			retinoblastoma protein-binding zinc finger							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105882	14105882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14105882C>T	uc001avi.2	+	8	2448	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A531V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.A288V|PRDM2_uc001avk.2_Missense_Mutation_p.A330V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	531						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108310	14108310	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108310A>G	uc001avi.2	+	8	4876	c.4020A>G	c.(4018-4020)AAA>AAG	p.K1340K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.K1340K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.K1139K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1340	C2H2-type 7; atypical.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108484	14108484	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108484A>T	uc001avi.2	+	8	5050	c.4194A>T	c.(4192-4194)GGA>GGT	p.G1398G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1398G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1197G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1398	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108568	14108568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108568T>A	uc001avi.2	+	8	5134	c.4278T>A	c.(4276-4278)AAT>AAA	p.N1426K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.N1426K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.N1225K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1426	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108802	14108802	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108802T>C	uc001avi.2	+	8	5368	c.4512T>C	c.(4510-4512)AGT>AGC	p.S1504S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1504S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1303S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1504						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15390079	15390079	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15390079C>T	uc001avm.3	+	7	1340	c.1059C>T	c.(1057-1059)CCC>CCT	p.P353P	KAZ_uc009vog.1_Silent_p.P353P|KAZ_uc010obj.1_Silent_p.P353P|KAZ_uc001avo.2_Silent_p.P347P|KAZ_uc001avp.2_Silent_p.P259P|KAZ_uc001avq.2_Silent_p.P259P|KAZ_uc001avr.2_Missense_Mutation_p.R255W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	353					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
CELA2B	51032	broad.mit.edu	37	1	15812448	15812448	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15812448C>T	uc001awl.2	+	6	571	c.546C>T	c.(544-546)GAC>GAT	p.D182D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
CASP9	842	broad.mit.edu	37	1	15833485	15833485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15833485C>T	uc001awn.2	-	4	634	c.539G>A	c.(538-540)CGC>CAC	p.R180H	CASP9_uc001awm.1_Missense_Mutation_p.R180H|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.R24H|CASP9_uc009voi.2_Missense_Mutation_p.R24H|CASP9_uc010obm.1_Missense_Mutation_p.R97H|CASP9_uc001awq.2_Missense_Mutation_p.R97H	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	180					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)														---	---	---	---
PLEKHM2	23207	broad.mit.edu	37	1	16056303	16056303	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16056303C>T	uc010obo.1	+	14	2314	c.2087C>T	c.(2086-2088)GCT>GTT	p.A696V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	696					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16095085	16095085	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16095085A>G	uc001axd.1	+	6	944	c.501A>G	c.(499-501)CCA>CCG	p.P167P	FBLIM1_uc001axe.1_Silent_p.P167P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P167P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	167	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)														---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16263760	16263760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16263760C>T	uc001axk.1	+	12	10333	c.10129C>T	c.(10129-10131)CCC>TCC	p.P3377S	SPEN_uc010obp.1_Missense_Mutation_p.P3336S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3377	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
ZBTB17	7709	broad.mit.edu	37	1	16274869	16274869	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16274869A>T	uc001axl.3	-	3	361	c.122T>A	c.(121-123)GTG>GAG	p.V41E	ZBTB17_uc010obq.1_Intron|ZBTB17_uc010obr.1_Missense_Mutation_p.V41E|ZBTB17_uc010obs.1_5'UTR|ZBTB17_uc010obt.1_Missense_Mutation_p.V41E|ZBTB17_uc010obu.1_Intron|ZBTB17_uc009vom.1_Missense_Mutation_p.V41E|ZBTB17_uc010obv.1_Missense_Mutation_p.V41E|ZBTB17_uc009von.1_Missense_Mutation_p.V44E	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	41	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16382999	16382999	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16382999T>C	uc001axw.3	+	19	2092	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V671A|CLCNKB_uc001axy.3_Missense_Mutation_p.V501A	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	671	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)												OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16529008	16529008	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16529008T>G	uc001ayc.1	-	13	2106	c.1969A>C	c.(1969-1971)AGC>CGC	p.S657R	ARHGEF19_uc009voo.1_Missense_Mutation_p.S10R|ARHGEF19_uc001ayb.1_Missense_Mutation_p.S134R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	657	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
C1orf144	26099	broad.mit.edu	37	1	16721643	16721643	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16721643C>T	uc001aym.3	+	4					C1orf144_uc010ocb.1_Silent_p.G119G|C1orf144_uc001ayi.3_3'UTR|C1orf144_uc001ayk.3_3'UTR	NM_001114600	NP_001108072			putative MAPK activating protein PM20,PM21												0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17313105	17313105	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17313105C>A	uc001baa.2	-	28	3448	c.3258G>T	c.(3256-3258)GCG>GCT	p.A1086A	ATP13A2_uc001azz.1_Intron|ATP13A2_uc001bab.2_Silent_p.A1081A|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1086	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17316648	17316648	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17316648A>G	uc001baa.2	-	21	2576	c.2386T>C	c.(2386-2388)TCC>CCC	p.S796P	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.S791P|ATP13A2_uc001bac.2_Missense_Mutation_p.S791P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	796	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17332055	17332055	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17332055C>T	uc001baa.2	-						ATP13A2_uc001bab.2_Intron|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372			ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17354302	17354302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17354302T>C	uc001bae.2	-	5	633	c.482A>G	c.(481-483)GAT>GGT	p.D161G		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	161					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17410313	17410313	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17410313A>T	uc001baf.2	-	9	1040	c.958T>A	c.(958-960)TTC>ATC	p.F320I	PADI2_uc010ocm.1_Missense_Mutation_p.F204I|PADI2_uc001bag.1_Missense_Mutation_p.F320I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	320					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17596816	17596816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17596816G>A	uc001bai.2	+	7	781	c.741G>A	c.(739-741)GAG>GAA	p.E247E		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	247					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17609396	17609396	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17609396T>A	uc001bai.2	+	16	1857	c.1817T>A	c.(1816-1818)ATC>AAC	p.I606N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	606					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17720850	17720850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17720850A>G	uc001bak.1	+	12	1237	c.1237A>G	c.(1237-1239)ATG>GTG	p.M413V		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	405					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17747324	17747324	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17747324T>G	uc001bal.2	-	6	792	c.745A>C	c.(745-747)ATA>CTA	p.I249L	RCC2_uc001bam.2_Missense_Mutation_p.I249L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	249	RCC1 3.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17749252	17749252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17749252C>T	uc001bal.2	-	4	651	c.604G>A	c.(604-606)GAA>AAA	p.E202K	RCC2_uc001bam.2_Missense_Mutation_p.E202K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	202	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18021710	18021710	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18021710G>A	uc001ban.2	+	28	3401	c.3242G>A	c.(3241-3243)GGC>GAC	p.G1081D	ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1042D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1037D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G842D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G854D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G784D|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G105D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1081					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19403330	19403330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19403330C>T	uc001bbi.2	-	105	15395	c.15391G>A	c.(15391-15393)GAC>AAC	p.D5131N	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.D26N|UBR4_uc010ocv.1_Missense_Mutation_p.D654N|UBR4_uc009vph.2_Missense_Mutation_p.D786N|UBR4_uc010ocw.1_Missense_Mutation_p.D795N|UBR4_uc001bbg.2_Missense_Mutation_p.D842N|UBR4_uc001bbh.2_Missense_Mutation_p.D840N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5131					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19440266	19440266	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19440266T>C	uc001bbi.2	-	77	11388	c.11384A>G	c.(11383-11385)TAC>TGC	p.Y3795C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3795					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)												OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19447850	19447850	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19447850C>A	uc001bbi.2	-	68	9978	c.9974G>T	c.(9973-9975)TGT>TTT	p.C3325F	UBR4_uc001bbk.1_Missense_Mutation_p.C972F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3325					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19467907	19467907	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19467907G>A	uc001bbi.2	-	57	8426	c.8422C>T	c.(8422-8424)CCT>TCT	p.P2808S	UBR4_uc001bbk.1_Missense_Mutation_p.P490S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2808					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19480342	19480342	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19480342T>C	uc001bbi.2	-	45	6554	c.6550A>G	c.(6550-6552)ACA>GCA	p.T2184A	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.T121A|UBR4_uc001bbm.1_Missense_Mutation_p.T1396A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2184					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
KIAA0090	23065	broad.mit.edu	37	1	19566468	19566468	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19566468T>C	uc001bbo.2	-	8	841	c.798A>G	c.(796-798)TTA>TTG	p.L266L	KIAA0090_uc001bbp.2_Silent_p.L266L|KIAA0090_uc001bbq.2_Silent_p.L266L|KIAA0090_uc001bbr.2_Silent_p.L244L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	266	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
AKR7A2	8574	broad.mit.edu	37	1	19633822	19633822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19633822T>C	uc001bbw.2	-	4	696	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	AKR7A2_uc001bbx.2_Missense_Mutation_p.Y190C	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	225					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19653883	19653883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19653883G>A	uc001bby.2	+	8	1133	c.781G>A	c.(781-783)GGC>AGC	p.G261S	PQLC2_uc001bbz.2_Missense_Mutation_p.G196S|PQLC2_uc001bca.2_Missense_Mutation_p.G261S|PQLC2_uc001bcb.2_Missense_Mutation_p.G150S|PQLC2_uc001bcc.2_Missense_Mutation_p.G150S	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	261	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19655099	19655099	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19655099A>G	uc001bby.2	+	9	1190	c.838A>G	c.(838-840)ACC>GCC	p.T280A	PQLC2_uc001bbz.2_Missense_Mutation_p.T215A|PQLC2_uc001bca.2_Missense_Mutation_p.T280A|PQLC2_uc001bcb.2_Missense_Mutation_p.T169A|PQLC2_uc001bcc.2_Missense_Mutation_p.T169A	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	280	Cytoplasmic (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
OTUD3	23252	broad.mit.edu	37	1	20233069	20233069	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20233069C>A	uc001bcs.3	+	7	1099	c.980C>A	c.(979-981)CCT>CAT	p.P327H		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	327											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PLA2G2C	391013	broad.mit.edu	37	1	20490512	20490512	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20490512C>A	uc009vpq.1	-	3	425	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21044008	21044008	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21044008G>A	uc001bdr.3	-	1	310	c.192C>T	c.(190-192)ACC>ACT	p.T64T	KIF17_uc001bds.3_Silent_p.T64T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	64	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---
HP1BP3	50809	broad.mit.edu	37	1	21097562	21097562	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21097562C>A	uc001bdw.1	-	6	655	c.515G>T	c.(514-516)TGC>TTC	p.C172F	HP1BP3_uc001bdv.1_Missense_Mutation_p.C134F|HP1BP3_uc010odh.1_Missense_Mutation_p.C134F|HP1BP3_uc001bdy.1_Missense_Mutation_p.C172F|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.C171F|HP1BP3_uc010odg.1_Missense_Mutation_p.C20F	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	172	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21144005	21144005	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21144005A>T	uc001bec.2	-	29	4483	c.4227T>A	c.(4225-4227)AGT>AGA	p.S1409R	EIF4G3_uc010odi.1_Missense_Mutation_p.S1013R|EIF4G3_uc010odj.1_Missense_Mutation_p.S1408R|EIF4G3_uc009vpz.2_Missense_Mutation_p.S1129R|EIF4G3_uc001bed.2_Missense_Mutation_p.S1409R|EIF4G3_uc001bef.2_Missense_Mutation_p.S1445R|EIF4G3_uc001bee.2_Missense_Mutation_p.S1415R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1409					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21226422	21226422	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21226422C>A	uc001bec.2	-	11	1855	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D	EIF4G3_uc010odi.1_Missense_Mutation_p.E137D|EIF4G3_uc010odj.1_Missense_Mutation_p.E532D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E253D|EIF4G3_uc001bed.2_Missense_Mutation_p.E533D|EIF4G3_uc001bef.2_Missense_Mutation_p.E532D|EIF4G3_uc001bee.2_Missense_Mutation_p.E539D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	533					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
ALPL	249	broad.mit.edu	37	1	21887136	21887136	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21887136A>G	uc001bet.2	+	3	336	c.79A>G	c.(79-81)AAG>GAG	p.K27E	ALPL_uc010odn.1_5'UTR|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_5'UTR|ALPL_uc001beu.3_Missense_Mutation_p.K27E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	27					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)													---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21934800	21934800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21934800A>G	uc001bex.2	-	17	1460	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	RAP1GAP_uc001bev.2_Missense_Mutation_p.L401P|RAP1GAP_uc001bew.2_Missense_Mutation_p.L465P|RAP1GAP_uc001bey.2_Missense_Mutation_p.L401P	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	401					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936606	21936606	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21936606C>T	uc001bex.2	-						RAP1GAP_uc001bev.2_Intron|RAP1GAP_uc001bew.2_Intron|RAP1GAP_uc001bey.2_Intron	NM_002885	NP_002876			RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
LDLRAD2	401944	broad.mit.edu	37	1	22147988	22147988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22147988C>T	uc001bfg.1	+	4	876	c.689C>T	c.(688-690)ACC>ATC	p.T230I	LDLRAD2_uc001bfh.1_RNA	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	230	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)														---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22150131	22150131	+	Silent	SNP	G	A	A	rs147161785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22150131G>A	uc001bfj.2	-	96	13021	c.12981C>T	c.(12979-12981)AAC>AAT	p.N4327N	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.N344N|HSPG2_uc009vqd.2_Silent_p.N4328N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4327	Laminin G-like 3.			N->A: Retains proper folding. Reduced calcium ion binding.	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	A	A	rs146179360	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22154901G>A	uc001bfj.2	-	89	12296	c.12256C>T	c.(12256-12258)CGG>TGG	p.R4086W	HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22832620	22832620	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22832620A>G	uc001bft.2	+	7	1757	c.1246A>G	c.(1246-1248)ACG>GCG	p.T416A	ZBTB40_uc001bfu.2_Missense_Mutation_p.T416A|ZBTB40_uc009vqi.1_Missense_Mutation_p.T304A|ZBTB40_uc001bfv.1_Missense_Mutation_p.T45A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	416					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)														---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22924701	22924701	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22924701T>C	uc001bfx.1	+	12	2299	c.2174T>C	c.(2173-2175)CTG>CCG	p.L725P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
C1QA	712	broad.mit.edu	37	1	22964157	22964157	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22964157G>A	uc001bfy.2	+	2	133	c.48G>A	c.(46-48)TCG>TCA	p.S16S	C1QA_uc001bfz.2_Silent_p.S16S	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	16					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974134	22974134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22974134C>T	uc001bgc.3	+	3	699	c.596C>T	c.(595-597)ACC>ATC	p.T199I	C1QC_uc001bga.3_Missense_Mutation_p.T199I|C1QC_uc001bgb.2_Missense_Mutation_p.T199I	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	199	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23107938	23107938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23107938C>T	uc009vqj.1	+	2	231	c.86C>T	c.(85-87)GCG>GTG	p.A29V	EPHB2_uc001bge.2_Missense_Mutation_p.A29V|EPHB2_uc001bgf.2_Missense_Mutation_p.A29V|EPHB2_uc010odu.1_Missense_Mutation_p.A29V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	29	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23405623	23405623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23405623T>C	uc001bgi.2	+	15	2085	c.1936T>C	c.(1936-1938)TGG>CGG	p.W646R	KDM1A_uc001bgj.2_Missense_Mutation_p.W670R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	646	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2																		---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23420507	23420507	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23420507T>A	uc001bgk.2	-	4	632	c.248A>T	c.(247-249)AAG>ATG	p.K83M	LUZP1_uc010odv.1_Missense_Mutation_p.K83M|LUZP1_uc001bgl.2_Missense_Mutation_p.K83M|LUZP1_uc001bgm.1_Missense_Mutation_p.K83M	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	83	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)														---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23758207	23758207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23758207T>C	uc001bha.2	-	23	2652	c.2528A>G	c.(2527-2529)TAC>TGC	p.Y843C	ASAP3_uc001bgy.1_Missense_Mutation_p.Y347C|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Y733C|ASAP3_uc010oea.1_Missense_Mutation_p.Y834C|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	843					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
E2F2	1870	broad.mit.edu	37	1	23842920	23842920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23842920G>A	uc001bhe.1	-	6	1380	c.952C>T	c.(952-954)CTC>TTC	p.L318F		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	318					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078489	24078489	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24078489C>T	uc001bho.2	+	4	1532	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	491					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)												OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24080852	24080852	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24080852G>T	uc001bho.2	+	7	1832	c.1772_splice	c.e7-1	p.S591_splice		NM_003198	NP_003189			elongin A						positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)														---	---	---	---
C1orf128	57095	broad.mit.edu	37	1	24113772	24113772	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24113772G>A	uc001bhq.2	+	6	672	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	C1orf128_uc010oeb.1_Missense_Mutation_p.R88Q	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	181	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24419453	24419453	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24419453G>T	uc001bin.3	-	10	1237	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	MYOM3_uc001bim.3_Silent_p.T15T|MYOM3_uc001bio.2_Silent_p.T358T|MYOM3_uc001bip.1_Silent_p.T15T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	358	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24432516	24432516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24432516G>A	uc001bin.3	-	5	617	c.454C>T	c.(454-456)CGC>TGC	p.R152C	MYOM3_uc001bio.2_Missense_Mutation_p.R152C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	152										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24673056	24673056	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24673056C>T	uc001biy.2	+	13	1529	c.1483C>T	c.(1483-1485)CGT>TGT	p.R495C	GRHL3_uc001bix.2_Missense_Mutation_p.R490C|GRHL3_uc001biz.2_Missense_Mutation_p.R397C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	490					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	26104818	26104818	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26104818A>G	uc001bkm.2	+						MAN1C1_uc009vry.1_Intron|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112			mannosidase, alpha, class 1C, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)														---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26135604	26135604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26135604A>G	uc010oer.1	+	8	890	c.835A>G	c.(835-837)ACT>GCT	p.T279A	SEPN1_uc010oes.1_Missense_Mutation_p.T245A	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	279						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PAQR7	164091	broad.mit.edu	37	1	26189996	26189996	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26189996A>C	uc001bkx.2	-	2	1002	c.335T>G	c.(334-336)CTT>CGT	p.L112R		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	112	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524554	26524554	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26524554C>A	uc010oez.1	+	5	664	c.664C>A	c.(664-666)CTC>ATC	p.L222I	CATSPER4_uc010oey.1_Missense_Mutation_p.L44I|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	222	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26663751	26663751	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26663751A>T	uc001bmd.3	-	9	1059	c.629T>A	c.(628-630)ATC>AAC	p.I210N	AIM1L_uc001bmf.3_Missense_Mutation_p.I101N	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	210	Beta/gamma crystallin 'Greek key' 4.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26672211	26672211	+	5'Flank	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26672211G>A	uc001bmd.3	-						uc009vsi.1_Missense_Mutation_p.P313L	NM_001039775	NP_001034864			absent in melanoma 1-like								sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
ZNF683	257101	broad.mit.edu	37	1	26691013	26691013	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26691013A>C	uc001bmg.1	-						ZNF683_uc001bmh.1_Intron|ZNF683_uc009vsj.1_Intron	NM_173574	NP_775845			zinc finger protein 683						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)														---	---	---	---
DHDDS	79947	broad.mit.edu	37	1	26759503	26759503	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26759503A>G	uc001bml.2	+						DHDDS_uc001bmk.2_Intron|DHDDS_uc001bmm.2_Intron|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Intron	NM_205861	NP_995583			dehydrodolichyl diphosphate synthase isoform b								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26878189	26878189	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26878189A>T	uc001bmr.1	+	6	606	c.443A>T	c.(442-444)GAC>GTC	p.D148V	RPS6KA1_uc010ofe.1_Missense_Mutation_p.D56V|RPS6KA1_uc010off.1_Missense_Mutation_p.D132V|RPS6KA1_uc001bms.1_Missense_Mutation_p.D157V|RPS6KA1_uc009vsl.1_5'UTR|MIR1976_hsa-mir-1976|MI0009986_5'Flank	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26887635	26887635	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26887635G>A	uc001bmr.1	+						RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Intron|RPS6KA1_uc001bms.1_Intron|RPS6KA1_uc009vsl.1_Intron	NM_002953	NP_002944			ribosomal protein S6 kinase, 90kDa, polypeptide						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058102	27058102	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27058102T>C	uc001bmv.1	+						ARID1A_uc001bmt.1_Intron|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Intron	NM_006015	NP_006006			AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105591	27105591	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105591T>C	uc001bmv.1	+	20	5575	c.5202T>C	c.(5200-5202)TAT>TAC	p.Y1734Y	ARID1A_uc001bmu.1_Silent_p.Y1517Y|ARID1A_uc001bmx.1_Silent_p.Y580Y|ARID1A_uc009vsm.1_Silent_p.Y62Y|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1734*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ZDHHC18	84243	broad.mit.edu	37	1	27176863	27176863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27176863T>C	uc001bnb.2	+	4	813	c.718T>C	c.(718-720)TTT>CTT	p.F240L	ZDHHC18_uc010ofh.1_Missense_Mutation_p.F105L	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	240	Helical; (Potential).|DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)														---	---	---	---
GPATCH3	63906	broad.mit.edu	37	1	27218931	27218931	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27218931G>T	uc001bne.2	-	6	1361	c.1332C>A	c.(1330-1332)GGC>GGA	p.G444G	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Silent_p.G255G	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	444	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27436202	27436202	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)													---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27688704	27688704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27688704G>T	uc001bny.1	-	9	1542	c.1293C>A	c.(1291-1293)TGC>TGA	p.C431*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.C423*|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	431					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
C1orf38	9473	broad.mit.edu	37	1	28209562	28209562	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28209562T>C	uc001bpc.3	+						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Intron	NM_001105556	NP_001099026			basement membrane-induced gene isoform 3						cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
DNAJC8	22826	broad.mit.edu	37	1	28530265	28530265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28530265T>G	uc001bpn.2	-	8	665	c.632A>C	c.(631-633)AAC>ACC	p.N211T	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	211					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28607245	28607245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28607245C>T	uc001bps.2	+	10	1728	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	459					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28802790	28802790	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28802790T>C	uc001bpw.2	+	8	1875	c.1593T>C	c.(1591-1593)GAT>GAC	p.D531D	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.D515D|PHACTR4_uc001bpy.2_Silent_p.D541D	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	531							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819589	28819589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819589C>T	uc001bpw.2	+	13	2361	c.2079C>T	c.(2077-2079)AGC>AGT	p.S693S	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.S677S|PHACTR4_uc001bpy.2_Silent_p.S703S|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	693							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819605	28819605	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819605T>G	uc001bpw.2	+	13	2375	c.2093_splice	c.e13+2	p.R698_splice	PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.R682_splice|PHACTR4_uc001bpy.2_Splice_Site_p.R708_splice|PHACTR4_uc001bpz.2_Splice_Site	NM_001048183	NP_001041648			phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28897682	28897682	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28897682T>G	uc001bqi.2	+						TRNAU1AP_uc001bqh.2_Intron|TRNAU1AP_uc010ofw.1_Intron	NM_017846	NP_060316			tRNA selenocysteine associated protein 1						selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
OPRD1	4985	broad.mit.edu	37	1	29189408	29189408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29189408C>T	uc001brf.1	+	3	974	c.732C>T	c.(730-732)CGC>CGT	p.R244R		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	244	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)													---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29314014	29314014	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29314014G>A	uc001brm.1	+	1	72	c.65G>A	c.(64-66)GGT>GAT	p.G22D	EPB41_uc001brg.1_Translation_Start_Site|EPB41_uc001brh.1_Translation_Start_Site|EPB41_uc001bri.1_Missense_Mutation_p.G22D|EPB41_uc001brj.1_Translation_Start_Site|EPB41_uc009vtk.1_Missense_Mutation_p.G22D|EPB41_uc001brk.2_Missense_Mutation_p.G22D|EPB41_uc001brl.1_Missense_Mutation_p.G22D|EPB41_uc009vtl.1_Translation_Start_Site|EPB41_uc009vtm.1_Translation_Start_Site	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	22					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)														---	---	---	---
SFRS4	6429	broad.mit.edu	37	1	29475243	29475243	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29475243C>T	uc001bro.2	-	6	1537	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	388	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29522739	29522739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29522739T>C	uc001brq.1	-	8	898	c.862A>G	c.(862-864)ATG>GTG	p.M288V	MECR_uc001brp.1_Missense_Mutation_p.M212V|MECR_uc001brr.1_Missense_Mutation_p.M212V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	288					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29542532	29542532	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29542532C>A	uc001brq.1	-	3	427	c.391G>T	c.(391-393)GCA>TCA	p.A131S	MECR_uc001brp.1_Missense_Mutation_p.A55S|MECR_uc001brr.1_Missense_Mutation_p.A55S|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.A55S|MECR_uc010ofz.1_Missense_Mutation_p.A131S	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	131					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29611288	29611288	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29611288C>A	uc001bru.2	+	14	2335	c.2225C>A	c.(2224-2226)TCG>TAG	p.S742*	PTPRU_uc001brv.2_Nonsense_Mutation_p.S742*|PTPRU_uc001brw.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtq.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtr.2_Nonsense_Mutation_p.S742*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	742	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29618439	29618439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29618439A>T	uc001bru.2	+	16	2517	c.2407A>T	c.(2407-2409)ATG>TTG	p.M803L	PTPRU_uc001brv.2_Missense_Mutation_p.M793L|PTPRU_uc001brw.2_Missense_Mutation_p.M793L|PTPRU_uc009vtq.2_Missense_Mutation_p.M793L|PTPRU_uc009vtr.2_Missense_Mutation_p.M793L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	803	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31479866	31479866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31479866C>T	uc001bsi.1	-	4	629	c.516G>A	c.(514-516)TGG>TGA	p.W172*	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Nonsense_Mutation_p.W172*|PUM1_uc001bsj.1_Nonsense_Mutation_p.W172*|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Nonsense_Mutation_p.W208*|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	172					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
BAI2	576	broad.mit.edu	37	1	32222059	32222059	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32222059G>A	uc001btn.2	-	4	733	c.379C>T	c.(379-381)CGG>TGG	p.R127W	BAI2_uc010ogp.1_Missense_Mutation_p.R115W|BAI2_uc010ogq.1_Missense_Mutation_p.R127W|BAI2_uc001bto.2_Missense_Mutation_p.R127W|BAI2_uc001btq.1_Missense_Mutation_p.R115W|BAI2_uc010ogr.1_Missense_Mutation_p.R115W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	127	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)														---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503449	32503449	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32503449G>T	uc001bub.2	+	6	1025	c.919G>T	c.(919-921)GGA>TGA	p.G307*	KHDRBS1_uc001bua.1_Nonsense_Mutation_p.G268*|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	307	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32635510	32635510	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32635510A>G	uc001bug.2	+	13	1360	c.1272A>G	c.(1270-1272)AAA>AAG	p.K424K	KPNA6_uc001buh.2_Silent_p.K199K|KPNA6_uc010ogx.1_Silent_p.K421K|KPNA6_uc010ogy.1_Silent_p.K429K|KPNA6_uc009vtz.2_Silent_p.K319K	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	424	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
EIF3I	8668	broad.mit.edu	37	1	32696575	32696575	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32696575A>G	uc001bur.3	+	11	1384	c.851A>G	c.(850-852)CAC>CGC	p.H284R	EIF3I_uc009vuc.2_Missense_Mutation_p.H284R|EIF3I_uc001bus.2_Missense_Mutation_p.H236R	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	284	WD 5.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)																---	---	---	---
TSSK3	81629	broad.mit.edu	37	1	32829415	32829415	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32829415T>C	uc001bvf.2	+	2	806	c.365T>C	c.(364-366)ATC>ACC	p.I122T	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	122	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)																---	---	---	---
RBBP4	5928	broad.mit.edu	37	1	33134616	33134616	+	Missense_Mutation	SNP	A	G	G	rs77147900		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33134616A>G	uc001bvr.2	+	6	803	c.644A>G	c.(643-645)AAA>AGA	p.K215R	RBBP4_uc001bvs.2_Missense_Mutation_p.K214R|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.K180R	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	215					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)																---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33237888	33237888	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33237888C>A	uc001bvv.2	+	6	3067	c.2931C>A	c.(2929-2931)CCC>CCA	p.P977P	KIAA1522_uc001bvu.1_Silent_p.P1036P|KIAA1522_uc010ohm.1_Silent_p.P988P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	977	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34015866	34015866	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34015866C>T	uc001bxn.1	-	55	8425	c.8396G>A	c.(8395-8397)AGC>AAC	p.S2799N	CSMD2_uc001bxm.1_Missense_Mutation_p.S2943N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2799	Sushi 19.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035106	34035106	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34035106G>A	uc001bxn.1	-	53	8034	c.8005C>T	c.(8005-8007)CGC>TGC	p.R2669C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2667C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2669	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34071528	34071528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34071528T>C	uc001bxn.1	-	42	6313	c.6284A>G	c.(6283-6285)GAA>GGA	p.E2095G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2095	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34667751	34667751	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34667751A>G	uc001bxs.3	+	4	1166	c.767A>G	c.(766-768)CAC>CGC	p.H256R	C1orf94_uc001bxt.2_Missense_Mutation_p.H446R	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	256							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GJB3	2707	broad.mit.edu	37	1	35250919	35250919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35250919A>G	uc001bxx.2	+	2	1171	c.556A>G	c.(556-558)ATC>GTC	p.I186V	GJB3_uc001bxy.2_Missense_Mutation_p.I186V|GJB3_uc001bxz.3_Missense_Mutation_p.I186V|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	186	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35332721	35332721	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35332721G>A	uc001byc.2	-	9	2649	c.2649C>T	c.(2647-2649)ATC>ATT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)														OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370394	35370394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35370394C>T	uc001byc.2	-	1	591	c.591G>A	c.(589-591)GGG>GGA	p.G197G		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	197					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35851205	35851205	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35851205T>C	uc001byt.2	+						ZMYM4_uc009vuu.2_Intron|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Intron	NM_005095	NP_005086			zinc finger protein 262						multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36203686	36203686	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36203686T>C	uc001bzi.2	-	22	3651	c.3571A>G	c.(3571-3573)AAA>GAA	p.K1191E	CLSPN_uc009vux.2_Missense_Mutation_p.K1127E	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1191					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36563431	36563431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36563431G>A	uc001bzv.1	-	2	1858	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	COL8A2_uc001bzw.1_Silent_p.G552G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	617	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36645561	36645561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36645561G>A	uc001bzz.2	+	16	2624	c.2408G>A	c.(2407-2409)GGA>GAA	p.G803E	MAP7D1_uc001caa.2_Missense_Mutation_p.G770E|MAP7D1_uc001cab.2_Missense_Mutation_p.G765E|MAP7D1_uc001cac.2_Missense_Mutation_p.G502E|MAP7D1_uc001cad.2_Missense_Mutation_p.G339E	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	803						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)																---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755361	36755361	+	Missense_Mutation	SNP	G	A	A	rs143670803	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36755361G>A	uc001cae.3	+	5	1965	c.1741G>A	c.(1741-1743)GCA>ACA	p.A581T	THRAP3_uc001caf.3_Missense_Mutation_p.A581T|THRAP3_uc001cag.1_Missense_Mutation_p.A581T	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	581					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36757116	36757116	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36757116A>G	uc001cae.3	+	6	2111	c.1887A>G	c.(1885-1887)CAA>CAG	p.Q629Q	THRAP3_uc001caf.3_Silent_p.Q629Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	629					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36769439	36769439	+	Missense_Mutation	SNP	C	T	T	rs141044799		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36769439C>T	uc001cae.3	+	12	2913	c.2689C>T	c.(2689-2691)CGG>TGG	p.R897W	THRAP3_uc001caf.3_Missense_Mutation_p.R897W|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	897					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
C1orf113	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36785374C>T	uc010oia.1	+	14	1138	c.1110C>T	c.(1108-1110)AAC>AAT	p.N370N	C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	254											0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
MEAF6	64769	broad.mit.edu	37	1	37975066	37975066	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37975066G>A	uc001cbg.1	-	3	301	c.284C>T	c.(283-285)ACC>ATC	p.T95I	MEAF6_uc001cbd.1_Missense_Mutation_p.T73I|MEAF6_uc001cbe.1_Missense_Mutation_p.T95I|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.T95I	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	95					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0																		---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006093	38006093	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006093A>G	uc001cbi.2	-	3	664	c.591T>C	c.(589-591)GGT>GGC	p.G197G	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	197					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006337	38006337	+	Missense_Mutation	SNP	C	A	A	rs80144754	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006337C>A	uc001cbi.2	-	3	420	c.347G>T	c.(346-348)CGG>CTG	p.R116L	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	116	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
DNALI1	7802	broad.mit.edu	37	1	38023220	38023220	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38023220T>C	uc001cbj.2	+	2	174	c.164T>C	c.(163-165)GTC>GCC	p.V55A	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	33					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38048476	38048476	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38048476C>T	uc001cbk.2	-	7	861	c.698G>A	c.(697-699)CGT>CAT	p.R233H	GNL2_uc010oif.1_Missense_Mutation_p.R74H	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	233					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38053053	38053053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38053053G>A	uc001cbk.2	-	5	591	c.428C>T	c.(427-429)ACA>ATA	p.T143I	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Intron	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	143					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38188974	38188974	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38188974C>T	uc009vvi.2	-						EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_Intron	NM_001099439	NP_001092909			EPH receptor A10 isofom 3							extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265387	38265387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38265387C>T	uc001cby.2	+	4	967	c.886C>T	c.(886-888)CCC>TCC	p.P296S	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.P74S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	296	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
FHL3	2275	broad.mit.edu	37	1	38463130	38463130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38463130C>T	uc001ccj.2	-	6	877	c.790G>A	c.(790-792)GTA>ATA	p.V264I	FHL3_uc001cck.2_Missense_Mutation_p.V264I|FHL3_uc001ccl.2_Silent_p.S262S|FHL3_uc001ccm.2_Missense_Mutation_p.V156I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	264	LIM zinc-binding 4.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341489	39341489	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39341489G>A	uc001cct.1	-	2	563	c.282C>T	c.(280-282)GGC>GGT	p.G94G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	94	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39750744	39750744	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39750744A>T	uc010ois.1	+						MACF1_uc001cda.1_Intron	NM_012090	NP_036222			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39765892	39765892	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39765892A>T	uc010ois.1	+	23	2712	c.2507A>T	c.(2506-2508)GAG>GTG	p.E836V	MACF1_uc001cda.1_Missense_Mutation_p.E744V|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	836					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39796951	39796951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39796951G>A	uc010oiu.1	+	1	142	c.11G>A	c.(10-12)GGC>GAC	p.G4D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1569					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798124	39798124	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39798124C>G	uc010oiu.1	+	1	1315	c.1184C>G	c.(1183-1185)GCC>GGC	p.A395G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1960					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39844182	39844182	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39844182C>T	uc010oiu.1	+	17	8714	c.8583C>T	c.(8581-8583)TAC>TAT	p.Y2861Y	MACF1_uc010ois.1_Silent_p.Y2359Y|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4426					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39854290	39854290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39854290C>T	uc010oiu.1	+	22	11227	c.11096C>T	c.(11095-11097)ACC>ATC	p.T3699I	MACF1_uc010ois.1_Missense_Mutation_p.T3197I|MACF1_uc001cda.1_Missense_Mutation_p.T3084I|MACF1_uc001cdc.1_Missense_Mutation_p.T2263I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5264	Spectrin 6.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39879803	39879803	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39879803A>G	uc009vvt.1	+	1	4628	c.3866A>G	c.(3865-3867)AAC>AGC	p.N1289S	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1153	Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39950269	39950269	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39950269T>A	uc010oiu.1	+						MACF1_uc010ois.1_Intron|MACF1_uc001cde.1_Intron|MACF1_uc001cdf.1_Intron|MACF1_uc001cdg.2_Intron|MACF1_uc001cdh.2_Intron	NM_033044	NP_149033			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
BMP8B	656	broad.mit.edu	37	1	40226088	40226088	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40226088G>A	uc001cdz.1	-	7					PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	NM_001720	NP_001711			bone morphogenetic protein 8B preproprotein						cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---
MYCL1	4610	broad.mit.edu	37	1	40363565	40363565	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40363565G>A	uc001cer.1	-	3	791	c.574C>T	c.(574-576)CGA>TGA	p.R192*	MYCL1_uc001ces.1_Nonsense_Mutation_p.R192*	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)					A		small cell lung 								---	---	---	---
CAP1	10487	broad.mit.edu	37	1	40535427	40535427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40535427C>A	uc001cfa.3	+	9	1103	c.874C>A	c.(874-876)CCA>ACA	p.P292T	CAP1_uc001cey.3_Missense_Mutation_p.P292T|CAP1_uc001cez.3_Missense_Mutation_p.P292T|CAP1_uc009vvz.2_Missense_Mutation_p.P292T|CAP1_uc010oje.1_Missense_Mutation_p.P209T	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	292					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
RLF	6018	broad.mit.edu	37	1	40703531	40703531	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40703531A>C	uc001cfc.3	+	8	3188	c.3157A>C	c.(3157-3159)AGG>CGG	p.R1053R	RLF_uc001cfd.3_Silent_p.R744R	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)															---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40747087	40747087	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40747087A>T	uc001cfg.2	+	7	1053	c.842A>T	c.(841-843)GAC>GTC	p.D281V		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	281						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40879909	40879909	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40879909C>A	uc001cfj.2	+	6	633	c.568C>A	c.(568-570)CTT>ATT	p.L190I	SMAP2_uc010ojh.1_Missense_Mutation_p.L190I|SMAP2_uc001cfk.2_Missense_Mutation_p.L160I|SMAP2_uc010oji.1_Missense_Mutation_p.L107I|SMAP2_uc010ojj.1_Missense_Mutation_p.L6I	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	190	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40881883	40881883	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40881883C>T	uc001cfj.2	+	8	782	c.717C>T	c.(715-717)GGC>GGT	p.G239G	SMAP2_uc010ojh.1_Silent_p.G239G|SMAP2_uc001cfk.2_Silent_p.G209G|SMAP2_uc010oji.1_Silent_p.G156G|SMAP2_uc010ojj.1_Silent_p.G55G	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	239					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40981037	40981037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981037T>C	uc001cfp.2	+	3	1026	c.821T>C	c.(820-822)CTT>CCT	p.L274P	DEM1_uc001cfq.2_Missense_Mutation_p.L274P|DEM1_uc001cfr.2_Missense_Mutation_p.L274P|DEM1_uc001cfs.2_Missense_Mutation_p.L274P	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	274							DNA binding|exonuclease activity				0																		---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41250028	41250028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41250028A>G	uc001cgh.1	+	1	345	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	KCNQ4_uc001cgi.1_Missense_Mutation_p.Y88C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	88	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)															---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41990484	41990484	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41990484G>A	uc001cgz.3	-	6	6518	c.5305C>T	c.(5305-5307)CTG>TTG	p.L1769L	HIVEP3_uc001cha.3_Silent_p.L1769L|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1769	C2H2-type 4.|ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046233	42046233	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046233T>C	uc001cgz.3	-	4	5449	c.4236A>G	c.(4234-4236)TCA>TCG	p.S1412S	HIVEP3_uc001cha.3_Silent_p.S1412S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046988	42046988	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046988C>A	uc001cgz.3	-	4	4694	c.3481G>T	c.(3481-3483)GAA>TAA	p.E1161*	HIVEP3_uc001cha.3_Nonsense_Mutation_p.E1161*|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048796	42048796	+	Missense_Mutation	SNP	C	T	T	rs143274774		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048796C>T	uc001cgz.3	-	4	2886	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R558Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	558	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
FOXJ3	22887	broad.mit.edu	37	1	42664883	42664883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42664883C>T	uc001che.2	-	9	961	c.649G>A	c.(649-651)GAT>AAT	p.D217N	FOXJ3_uc001chf.2_Missense_Mutation_p.D217N|FOXJ3_uc001chg.2_Missense_Mutation_p.D217N|FOXJ3_uc001chh.1_Missense_Mutation_p.D183N	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	217					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
YBX1	4904	broad.mit.edu	37	1	43149140	43149140	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43149140G>T	uc001chs.2	+							NM_004559	NP_004550			nuclease sensitive element binding protein 1						CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43212614	43212614	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43212614T>C	uc001chv.2	-						LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chx.3_Missense_Mutation_p.N795S	NM_022356	NP_071751			leprecan 1 isoform 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43213016	43213016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43213016A>G	uc001chv.2	-	14	2095	c.1982T>C	c.(1981-1983)GTG>GCG	p.V661A	LEPRE1_uc001chw.2_Missense_Mutation_p.V661A|LEPRE1_uc001chx.3_Missense_Mutation_p.V661A	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	661	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43396858	43396858	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43396858T>C	uc001cik.2	-	3	659	c.134A>G	c.(133-135)AAC>AGC	p.N45S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	45	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMEM125	128218	broad.mit.edu	37	1	43738912	43738912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43738912C>T	uc001cir.2	+	4	1089	c.519C>T	c.(517-519)AGC>AGT	p.S173S	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.S173S	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	173						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43777979	43777979	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43777979C>A	uc001ciu.2	+	12	1713	c.1634C>A	c.(1633-1635)CCT>CAT	p.P545H	TIE1_uc010okd.1_Missense_Mutation_p.P545H|TIE1_uc010oke.1_Missense_Mutation_p.P500H|TIE1_uc009vwq.2_Missense_Mutation_p.P501H|TIE1_uc010okf.1_Missense_Mutation_p.P190H|TIE1_uc010okg.1_Missense_Mutation_p.P190H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	545	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43903371	43903371	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43903371G>A	uc001cjk.1	+	30	4161	c.3699G>A	c.(3697-3699)TCG>TCA	p.S1233S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2132						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43908489	43908489	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43908489G>T	uc001cjk.1	+	44	5917	c.5455_splice	c.e44-1	p.E1819_splice		NM_015284	NP_056099			hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056821	44056821	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056821T>C	uc001cjr.2	+	9	1468	c.1128T>C	c.(1126-1128)ATT>ATC	p.I376I	PTPRF_uc001cjs.2_Silent_p.I376I|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	376	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056913G>A	uc001cjr.2	+	9	1560	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	PTPRF_uc001cjs.2_Missense_Mutation_p.R407H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44063488	44063488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44063488T>C	uc001cjr.2	+	12	2223	c.1883T>C	c.(1882-1884)GTC>GCC	p.V628A	PTPRF_uc001cjs.2_Missense_Mutation_p.V628A|PTPRF_uc001cju.2_Missense_Mutation_p.V199A|PTPRF_uc009vwt.2_Missense_Mutation_p.V199A|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	628	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44075099	44075099	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44075099A>T	uc001cjr.2	+	22	4243	c.3903A>T	c.(3901-3903)GGA>GGT	p.G1301G	PTPRF_uc001cjs.2_Silent_p.G1292G|PTPRF_uc001cju.2_Silent_p.G679G|PTPRF_uc009vwt.2_Silent_p.G861G|PTPRF_uc001cjv.2_Silent_p.G761G|PTPRF_uc001cjw.2_Silent_p.G527G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1301	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
ATP6V0B	533	broad.mit.edu	37	1	44442793	44442793	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44442793G>A	uc001cld.2	+	7	607	c.496G>A	c.(496-498)GAT>AAT	p.D166N	ATP6V0B_uc001clc.2_Missense_Mutation_p.D166N|ATP6V0B_uc001cle.2_Missense_Mutation_p.D119N|ATP6V0B_uc001clf.2_Missense_Mutation_p.D119N|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	166	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44458260	44458260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44458260G>T	uc001clj.2	+	4	539	c.368G>T	c.(367-369)AGG>ATG	p.R123M	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.R79M|CCDC24_uc009vxc.2_Missense_Mutation_p.R87M	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	123											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44461664	44461664	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44461664C>T	uc001clj.2	+	9	927	c.756C>T	c.(754-756)TGC>TGT	p.C252C	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.A206V|CCDC24_uc009vxc.2_Silent_p.C216C	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	252											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292148	45292148	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45292148G>A	uc010olf.1	-						PTCH2_uc010olg.1_Intron	NM_003738	NP_003729			patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45474846	45474846	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45474846T>A	uc009vxk.2	-	7	1140	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.I64F|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	348	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
UROD	7389	broad.mit.edu	37	1	45479751	45479751	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45479751T>C	uc001cna.1	+						HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc001cnb.1_Intron|UROD_uc010olj.1_Silent_p.P159P|UROD_uc001cnc.1_Intron	NM_000374	NP_000365			uroporphyrinogen decarboxylase							cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)													Porphyria_Cutanea_Tarda_Type_II				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45797085	45797085	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45797085C>T	uc001cnm.2	-						MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Intron|MUTYH_uc009vxo.2_Intron|MUTYH_uc001cng.2_Intron|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Intron|MUTYH_uc001cnh.2_Intron|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Intron|MUTYH_uc009vxp.2_Intron|MUTYH_uc001cnn.2_Intron	NM_012222	NP_036354			mutY homolog isoform 1						depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45799172	45799172	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45799172G>A	uc001cnm.2	-	3	468	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Silent_p.F59F|MUTYH_uc009vxo.2_Silent_p.F59F|MUTYH_uc001cng.2_Silent_p.F70F|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Silent_p.F59F|MUTYH_uc001cnh.2_Silent_p.F60F|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.F73F|MUTYH_uc009vxp.2_Silent_p.F87F|MUTYH_uc001cnn.2_Silent_p.F74F	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	84					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
TOE1	114034	broad.mit.edu	37	1	45808899	45808899	+	Missense_Mutation	SNP	C	A	A	rs145913038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45808899C>A	uc009vxq.2	+	8	1641	c.1058C>A	c.(1057-1059)CCG>CAG	p.P353Q	MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	353						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46496749	46496749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46496749C>T	uc001cov.2	+	23	3062	c.2779C>T	c.(2779-2781)CGA>TGA	p.R927*	MAST2_uc001cow.2_Nonsense_Mutation_p.R927*|MAST2_uc001coy.1_Nonsense_Mutation_p.R601*|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	927					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46497992	46497992	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46497992T>G	uc001cov.2	+	25	3613	c.3330T>G	c.(3328-3330)GCT>GCG	p.A1110A	MAST2_uc001cow.2_Silent_p.A1110A|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1110	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46658844	46658844	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46658844A>G	uc001cpe.2	-	13	1316	c.1152_splice	c.e13+1	p.P384_splice	POMGNT1_uc010olx.1_Splice_Site_p.P362_splice|POMGNT1_uc010oly.1_Splice_Site|POMGNT1_uc010olz.1_Splice_Site_p.P241_splice|POMGNT1_uc001cpg.2_Splice_Site_p.P384_splice|POMGNT1_uc001cpf.2_Splice_Site_p.P51_splice|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_Splice_Site_p.P51_splice	NM_017739	NP_060209			O-linked mannose						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46726527	46726527	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46726527C>T	uc009vye.2	+	8	720	c.606C>T	c.(604-606)CGC>CGT	p.R202R	RAD54L_uc001cpl.2_Silent_p.R202R|RAD54L_uc001cpm.1_Silent_p.R22R	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	202	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46739122	46739122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46739122G>A	uc009vye.2	+	14	1585	c.1471G>A	c.(1471-1473)GAG>AAG	p.E491K	RAD54L_uc001cpl.2_Missense_Mutation_p.E491K|RAD54L_uc001cpm.1_Intron	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	491					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46876500	46876500	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46876500A>G	uc001cpu.2	+	11	1372	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	430					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)													---	---	---	---
ATPAF1	64756	broad.mit.edu	37	1	47101525	47101525	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47101525T>A	uc001cqh.2	-	9	1015	c.910A>T	c.(910-912)ATG>TTG	p.M304L	ATPAF1_uc001cqg.2_Missense_Mutation_p.M85L|ATPAF1_uc009vyk.2_Missense_Mutation_p.M153L|ATPAF1_uc010omg.1_Missense_Mutation_p.M216L|ATPAF1_uc001cqi.2_Missense_Mutation_p.M236L	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly	304					protein complex assembly	mitochondrion	protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
KIAA0494	9813	broad.mit.edu	37	1	47183713	47183713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47183713T>C	uc001cqk.3	-	1	1024	c.47A>G	c.(46-48)GAC>GGC	p.D16G	KIAA0494_uc010omh.1_Missense_Mutation_p.D16G|KIAA0494_uc001cql.1_Missense_Mutation_p.D16G	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	16							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47515714	47515714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47515714A>G	uc001cqt.2	+	12	1648	c.1398A>G	c.(1396-1398)GTA>GTG	p.V466V	CYP4X1_uc001cqr.2_Silent_p.V465V|CYP4X1_uc001cqs.2_Silent_p.V401V	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---
CYP4Z1	199974	broad.mit.edu	37	1	47564911	47564911	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47564911G>A	uc001cqu.1	+	8	1025	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	341	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1																		---	---	---	---
STIL	6491	broad.mit.edu	37	1	47716886	47716886	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47716886T>C	uc001crc.1	-	17	3941	c.3786A>G	c.(3784-3786)CTA>CTG	p.L1262L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1216L|STIL_uc010omo.1_Silent_p.L1245L|STIL_uc001crd.1_Silent_p.L1263L|STIL_uc001cre.1_Silent_p.L1262L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1262					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717182	47717182	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717182G>T	uc001crc.1	-	17	3645	c.3490C>A	c.(3490-3492)CTT>ATT	p.L1164I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1118I|STIL_uc010omo.1_Missense_Mutation_p.L1147I|STIL_uc001crd.1_Missense_Mutation_p.L1165I|STIL_uc001cre.1_Missense_Mutation_p.L1164I	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1164					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47728569	47728569	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47728569T>C	uc001crc.1	-						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Intron|STIL_uc010omo.1_Intron|STIL_uc001crd.1_Intron|STIL_uc001cre.1_Intron|STIL_uc001crf.1_Intron|STIL_uc001crg.1_Intron	NM_003035	NP_003026			SCL/TAL1 interrupting locus isoform 2						cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
CMPK1	51727	broad.mit.edu	37	1	47840875	47840875	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47840875G>A	uc001cri.2	+	5	704	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	CMPK1_uc010omp.1_Silent_p.Q136Q|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	153					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)													---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48690420	48690420	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48690420A>T	uc001cro.2	+	2	239	c.187A>T	c.(187-189)ACC>TCC	p.T63S	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.T63S|SLC5A9_uc010omt.1_Missense_Mutation_p.T56S|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48703476	48703476	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48703476C>A	uc001cro.2	+	11	1470	c.1418C>A	c.(1417-1419)GCT>GAT	p.A473D	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A498D|SLC5A9_uc010omt.1_Missense_Mutation_p.A487D|SLC5A9_uc001crp.2_Missense_Mutation_p.A140D|SLC5A9_uc010omu.1_Missense_Mutation_p.A140D|SLC5A9_uc009vyt.1_5'Flank	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	473	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
FAF1	11124	broad.mit.edu	37	1	50956304	50956304	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:50956304A>G	uc009vyx.1	-	18	1672	c.1609T>C	c.(1609-1611)TTT>CTT	p.F537L	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.F537L|FAF1_uc010onc.1_Missense_Mutation_p.F295L	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	537					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)														---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52257781	52257781	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52257781A>G	uc001ctc.3	-						NRD1_uc009vzb.2_Intron|NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_Intron|NRD1_uc001ctf.2_Intron	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52343945	52343945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52343945A>G	uc001ctc.3	-						NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Intron|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52729433	52729433	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52729433C>G	uc001cto.2	+						ZFYVE9_uc001ctn.2_Intron|ZFYVE9_uc001ctp.2_Intron	NM_004799	NP_004790			zinc finger, FYVE domain containing 9 isoform 3						endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8																		---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52826088	52826088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52826088C>T	uc001ctq.1	-						CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'Flank	NM_032449	NP_115825			coiled-coil and C2 domain containing 1B											ovary(2)	2																		---	---	---	---
ORC1L	4998	broad.mit.edu	37	1	52838930	52838930	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52838930T>C	uc001ctt.2	-	17	2728	c.2509A>G	c.(2509-2511)AGC>GGC	p.S837G	ORC1L_uc010oni.1_Missense_Mutation_p.S832G|ORC1L_uc001ctu.2_Missense_Mutation_p.S837G|ORC1L_uc009vzd.2_Missense_Mutation_p.S591G	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	837	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---
PRPF38A	84950	broad.mit.edu	37	1	52881054	52881054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52881054G>A	uc001ctv.3	+	9	1095	c.892G>A	c.(892-894)GAA>AAA	p.E298K	PRPF38A_uc001ctw.3_Silent_p.P108P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	298					mRNA processing|RNA splicing	spliceosomal complex					0																		---	---	---	---
GPX7	2882	broad.mit.edu	37	1	53072522	53072522	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53072522G>A	uc001cue.2	+	2	344	c.305G>A	c.(304-306)AGC>AAC	p.S102N		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	102					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)													---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53236726	53236726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53236726G>A	uc001cuj.2	+	3	426	c.231G>A	c.(229-231)AGG>AGA	p.R77R	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.R68R	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	77							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53245640	53245640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53245640A>G	uc001cuj.2	+	4	1262	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.E347G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	356							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53279576	53279576	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53279576A>G	uc001cuj.2	+	12	2133	c.1938A>G	c.(1936-1938)GTA>GTG	p.V646V	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.V567V|ZYG11B_uc009vzh.2_Silent_p.V68V	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	646							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53282239	53282239	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53282239T>C	uc001cuj.2	+	13	2177	c.1982T>C	c.(1981-1983)TTC>TCC	p.F661S	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.F582S|ZYG11B_uc009vzh.2_Missense_Mutation_p.F83S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	661							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SCP2	6342	broad.mit.edu	37	1	53427303	53427303	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53427303T>A	uc001cur.1	+	6	644	c.523_splice	c.e6+2	p.G175_splice	SCP2_uc001cus.1_Splice_Site|SCP2_uc010ono.1_Splice_Site_p.G94_splice|SCP2_uc010onp.1_Splice_Site_p.G151_splice|SCP2_uc009vzi.1_Splice_Site_p.G131_splice|SCP2_uc001cuq.1_Splice_Site_p.G131_splice	NM_002979	NP_002970			sterol carrier protein 2 isoform 1 proprotein						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1																		---	---	---	---
PODN	127435	broad.mit.edu	37	1	53544105	53544105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53544105C>T	uc001cuv.2	+	8	1074	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	PODN_uc001cuw.2_Missense_Mutation_p.P337L|PODN_uc010onr.1_Missense_Mutation_p.P337L|PODN_uc010ons.1_Missense_Mutation_p.P214L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	308	LRR 9.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675839	53675839	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675839A>T	uc001cvb.3	+	4	1008	c.493A>T	c.(493-495)ACA>TCA	p.T165S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	165	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675956	53675956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675956G>A	uc001cvb.3	+	4	1125	c.610G>A	c.(610-612)GCC>ACC	p.A204T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	204					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53715086	53715086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53715086T>C	uc001cvi.1	-	18	2961	c.2819A>G	c.(2818-2820)AAC>AGC	p.N940S	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.N770S|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	940	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---
TMEM48	55706	broad.mit.edu	37	1	54258916	54258916	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54258916A>G	uc001cvs.2	-	14	1862	c.1621T>C	c.(1621-1623)TAT>CAT	p.Y541H	TMEM48_uc010onu.1_Missense_Mutation_p.Y501H|TMEM48_uc001cvt.2_Missense_Mutation_p.Y418H|TMEM48_uc009vzk.2_Intron|TMEM48_uc010onv.1_Missense_Mutation_p.Y206H	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	541	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2																		---	---	---	---
YIPF1	54432	broad.mit.edu	37	1	54331937	54331937	+	Missense_Mutation	SNP	C	T	T	rs139670932		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54387395	54387395	+	Missense_Mutation	SNP	C	T	T	rs140103685	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54387395C>T	uc001cwh.2	-	6	440	c.364G>A	c.(364-366)GCC>ACC	p.A122T	HSPB11_uc001cwi.1_3'UTR	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	122					cell adhesion|response to stress						0																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54395786	54395786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54395786A>G	uc001cwh.2	-	3	207	c.131T>C	c.(130-132)ATG>ACG	p.M44T	HSPB11_uc001cwi.1_Missense_Mutation_p.M44T	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	44					cell adhesion|response to stress						0																		---	---	---	---
SSBP3	23648	broad.mit.edu	37	1	54867612	54867612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54867612A>G	uc001cxe.2	-	4	496	c.198T>C	c.(196-198)TTT>TTC	p.F66F	SSBP3_uc001cxf.2_Silent_p.F66F|SSBP3_uc001cxg.2_Silent_p.F66F	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0																		---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55074766	55074766	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55074766C>A	uc001cxm.1	+						ACOT11_uc001cxj.1_Missense_Mutation_p.P467H|ACOT11_uc001cxl.1_Missense_Mutation_p.P589H	NM_015547	NP_056362			thioesterase, adipose associated isoform BFIT1						fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1																		---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55518094	55518094	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55518094G>T	uc001cyf.1	+						PCSK9_uc010ool.1_Intron|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596			proprotein convertase subtilisin/kexin type 9						cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55627910	55627910	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55627910C>G	uc001cyg.3	-	7	619	c.619G>C	c.(619-621)GGA>CGA	p.G207R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	319					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57158066	57158066	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158066G>A	uc001cyk.3	+	4	437	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	122	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57159508	57159508	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57159508T>C	uc001cyk.3	+	5	617	c.546T>C	c.(544-546)CCT>CCC	p.P182P		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	182	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
C8B	732	broad.mit.edu	37	1	57420406	57420406	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57420406A>T	uc001cyp.2	-	4	553	c.486T>A	c.(484-486)TGT>TGA	p.C162*	C8B_uc010oon.1_Nonsense_Mutation_p.C100*|C8B_uc010ooo.1_Nonsense_Mutation_p.C110*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57535065	57535065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57535065G>A	uc001cys.1	-	10	1305	c.631C>T	c.(631-633)CGT>TGT	p.R211C	DAB1_uc001cyt.1_Missense_Mutation_p.R211C|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.R211C	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	211					cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248625	59248625	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59248625G>T	uc001cze.2	-	1	1161	c.118C>A	c.(118-120)CTG>ATG	p.L40M	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	40					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)			A		sarcoma								---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60299106	60299106	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60299106T>C	uc009wad.2	+	6	405	c.303T>C	c.(301-303)CTT>CTC	p.L101L	HOOK1_uc001czo.2_Silent_p.L101L|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.L59L	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60330855	60330855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60330855A>G	uc009wad.2	+	19	1784	c.1682A>G	c.(1681-1683)CAT>CGT	p.H561R	HOOK1_uc001czo.2_Missense_Mutation_p.H561R|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.H519R	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	561	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62550219	62550219	+	Missense_Mutation	SNP	G	A	A	rs139521421		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62550219G>A	uc001dab.2	+	33	4390	c.4276G>A	c.(4276-4278)GCA>ACA	p.A1426T	INADL_uc009waf.1_Missense_Mutation_p.A1426T|INADL_uc001daa.2_Missense_Mutation_p.A1426T|INADL_uc001dad.3_Missense_Mutation_p.A1123T|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.A210T|INADL_uc009wag.2_Missense_Mutation_p.A210T|INADL_uc010oou.1_Missense_Mutation_p.A99T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1426					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62574144	62574144	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62574144G>A	uc001dab.2	+	34	4527	c.4413G>A	c.(4411-4413)GGG>GGA	p.G1471G	INADL_uc009waf.1_Silent_p.G1501G|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Silent_p.G1168G|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.G285G|INADL_uc009wag.2_Silent_p.G255G|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1471	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62614010	62614010	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62614010A>G	uc001dab.2	+	42	5440	c.5326A>G	c.(5326-5328)ACA>GCA	p.T1776A	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T560A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1776					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675548	62675548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675548C>T	uc001dae.3	+	4	1404	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	368										ovary(1)|skin(1)	2																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675858	62675858	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675858A>T	uc001dae.3	+	4	1714	c.1412A>T	c.(1411-1413)GAC>GTC	p.D471V		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	471	Glu-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62738936	62738936	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62738936A>G	uc001dah.3	-	3	2217	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	614										ovary(3)|skin(2)|lung(1)	6																		---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63090947	63090947	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63090947T>A	uc001daq.2	-	12	1442	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	DOCK7_uc001dan.2_Missense_Mutation_p.T362S|DOCK7_uc001dao.2_Missense_Mutation_p.T362S|DOCK7_uc001dap.2_Missense_Mutation_p.T470S|DOCK7_uc009wah.1_Missense_Mutation_p.T470S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	470					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
ITGB3BP	23421	broad.mit.edu	37	1	63919586	63919586	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63919586T>C	uc001dba.1	-						ITGB3BP_uc001dbb.1_Intron|ITGB3BP_uc001dbc.1_Intron|ITGB3BP_uc001dbd.1_Intron|ITGB3BP_uc009wak.1_Missense_Mutation_p.K185E|ITGB3BP_uc001dbe.1_Intron	NM_014288	NP_055103			integrin beta 3 binding protein						apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0																		---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64644121	64644121	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64644121G>T	uc001dbj.2	+	9	2796	c.2397G>T	c.(2395-2397)CAG>CAT	p.Q799H	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	799	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19																		---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65120394	65120394	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65120394G>A	uc001dbo.1	+	12	1642	c.1537G>A	c.(1537-1539)GCA>ACA	p.A513T	CACHD1_uc001dbp.1_Missense_Mutation_p.A268T|CACHD1_uc001dbq.1_Missense_Mutation_p.A268T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	564	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65332662	65332662	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65332662T>A	uc001dbu.1	-	7	1126	c.877A>T	c.(877-879)ATT>TTT	p.I293F	JAK1_uc009wam.1_Missense_Mutation_p.I281F	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	293	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65851520	65851520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65851520G>A	uc001dcd.1	+	7	919	c.755G>A	c.(754-756)CGC>CAC	p.R252H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H|DNAJC6_uc001dce.1_Missense_Mutation_p.R309H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65871610	65871610	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65871610C>T	uc001dcd.1	+	16	2278	c.2114C>T	c.(2113-2115)CCG>CTG	p.P705L	DNAJC6_uc010opc.1_Missense_Mutation_p.P692L|DNAJC6_uc001dce.1_Missense_Mutation_p.P762L	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65878634	65878634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65878634G>A	uc001dcd.1	+	19	2832	c.2668G>A	c.(2668-2670)GCA>ACA	p.A890T	DNAJC6_uc010opc.1_Missense_Mutation_p.A877T|DNAJC6_uc001dce.1_Missense_Mutation_p.A947T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	890	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102560	66102560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66102560C>A	uc001dci.2	+	20	3562	c.3360C>A	c.(3358-3360)TGC>TGA	p.C1120*	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1120	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67356835	67356835	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67356835A>G	uc001dcx.2	-	4	699	c.643_splice	c.e4+1	p.D215_splice	WDR78_uc001dcy.2_Splice_Site_p.D215_splice|WDR78_uc001dcz.2_Splice_Site_p.D215_splice|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039			WD repeat domain 78 isoform 1											ovary(2)	2																		---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67512970	67512970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67512970A>G	uc001ddk.2	-	7	998	c.614T>C	c.(613-615)GTA>GCA	p.V205A	SLC35D1_uc010oph.1_Missense_Mutation_p.V126A	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	205	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)													---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67721560	67721560	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67721560T>C	uc001ddo.2	+	10	1274	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	IL23R_uc009waz.2_Missense_Mutation_p.Y194H|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Intron|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.Y143H|IL23R_uc010opn.1_Missense_Mutation_p.Y242H|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.Y256H|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.Y226H|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.Y194H|IL23R_uc010opt.1_Missense_Mutation_p.Y38H|IL23R_uc010opu.1_Missense_Mutation_p.Y93H|IL23R_uc010opv.1_Missense_Mutation_p.Y155H|IL23R_uc010opw.1_Missense_Mutation_p.Y32H|IL23R_uc010opx.1_Missense_Mutation_p.Y38H|IL23R_uc010opy.1_Missense_Mutation_p.Y164H|IL23R_uc010opz.1_Missense_Mutation_p.Y38H|IL23R_uc010oqa.1_Missense_Mutation_p.Y38H|IL23R_uc010oqb.1_Missense_Mutation_p.Y226H|IL23R_uc010oqc.1_Missense_Mutation_p.Y113H|IL23R_uc010oqd.1_Missense_Mutation_p.Y32H|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Missense_Mutation_p.Y38H|IL23R_uc001dds.2_Missense_Mutation_p.Y142H|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	397	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0																		---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67787284	67787284	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67787284G>C	uc001ddu.2	+	3	717	c.77_splice	c.e3-1	p.D26_splice	IL12RB2_uc010oqi.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqj.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqm.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550			interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67885689	67885689	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67885689T>A	uc001ddv.2	-						SERBP1_uc001ddx.2_Intron|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	NM_001018067	NP_001018077			SERPINE1 mRNA binding protein 1 isoform 1						regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70226075	70226075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70226075A>G	uc001dep.2	+	1	218	c.188A>G	c.(187-189)AAG>AGG	p.K63R	LRRC7_uc001deo.1_Missense_Mutation_p.K101R|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493845	70493845	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70493845A>T	uc001dep.2	+						LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845			leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504911	70504911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70504911C>T	uc001dep.2	+	19	3320	c.3290C>T	c.(3289-3291)GCT>GTT	p.A1097V	LRRC7_uc009wbg.2_Missense_Mutation_p.A381V|LRRC7_uc001deq.2_Missense_Mutation_p.A338V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1097						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	74737329	74737329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74737329A>G	uc001dgf.1	+	5	432	c.381A>G	c.(379-381)ATA>ATG	p.I127M	TNNI3K_uc001dgc.1_Missense_Mutation_p.I228M|TNNI3K_uc001dgd.2_Missense_Mutation_p.I228M|TNNI3K_uc001dge.1_Missense_Mutation_p.I228M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	127	ANK 2.			I -> V (in Ref. 8; AAH32865).		cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75036811	75036811	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75036811A>G	uc001dgg.2	-	14	4802	c.4583T>C	c.(4582-4584)ATG>ACG	p.M1528T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1528										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75072508	75072508	+	Missense_Mutation	SNP	C	A	A	rs138387900	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75072508C>A	uc001dgg.2	-	10	1485	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E216D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	422	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75175906	75175906	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75175906G>T	uc001dgk.2	-	7	1011	c.506C>A	c.(505-507)GCT>GAT	p.A169D	CRYZ_uc001dgj.2_Missense_Mutation_p.A169D|CRYZ_uc001dgl.2_Missense_Mutation_p.A169D|CRYZ_uc001dgm.2_Missense_Mutation_p.A32D	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	169					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)													---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76257267	76257267	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76257267A>T	uc001dgy.1	+						RABGGTB_uc009wbt.1_Intron|RABGGTB_uc001dha.1_Intron|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573			RAB geranylgeranyltransferase, beta subunit						protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1																		---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76384670	76384670	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76384670A>G	uc001dhe.1	-	3	995	c.855T>C	c.(853-855)GCT>GCC	p.A285A	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	285	SOCS box.				intracellular signal transduction					ovary(1)	1																		---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77528783	77528783	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77528783A>G	uc001dhi.2	+	5	1078	c.903A>G	c.(901-903)AAA>AAG	p.K301K	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	301	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2																		---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78047779	78047779	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78047779A>G	uc001dhq.2	-	7	2153	c.1677T>C	c.(1675-1677)GTT>GTC	p.V559V	ZZZ3_uc001dhr.2_Silent_p.V65V|ZZZ3_uc001dhp.2_Silent_p.V559V	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78163606	78163606	+	Silent	SNP	A	G	G	rs35826044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78163606A>G	uc001dht.2	-	24	2960	c.2613T>C	c.(2611-2613)GGT>GGC	p.G871G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.V558A|USP33_uc001dhu.2_Silent_p.G840G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	871	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78194238	78194238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78194238A>G	uc001dht.2	-	11	1317	c.970T>C	c.(970-972)TGT>CGT	p.C324R	USP33_uc001dhs.2_Missense_Mutation_p.C45R|USP33_uc001dhu.2_Missense_Mutation_p.C293R|USP33_uc001dhv.2_Missense_Mutation_p.C129R|USP33_uc001dhw.2_Missense_Mutation_p.C324R	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	324					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78205094	78205094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78205094C>T	uc001dht.2	-	6	647	c.300G>A	c.(298-300)AAG>AAA	p.K100K	USP33_uc001dhu.2_Silent_p.K69K|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Silent_p.K100K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	100	UBP-type.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78207399	78207399	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78207399T>C	uc001dht.2	-	3	424	c.77A>G	c.(76-78)GAA>GGA	p.E26G	USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.E26G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	26					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78425903	78425903	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78425903A>T	uc001dii.2	-	16	1631	c.1542T>A	c.(1540-1542)TAT>TAA	p.Y514*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.Y535*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	514	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78429943	78429943	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78429943C>T	uc001dii.2	-	11	1025	c.936G>A	c.(934-936)AAG>AAA	p.K312K	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.K333K	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	312	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82432273	82432273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82432273T>C	uc001dit.3	+	12	2459	c.2278T>C	c.(2278-2280)TTT>CTT	p.F760L	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F760L|LPHN2_uc001div.2_Missense_Mutation_p.F760L|LPHN2_uc009wcd.2_Missense_Mutation_p.F760L|LPHN2_uc001diw.2_Missense_Mutation_p.F344L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	773	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82436047	82436047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82436047C>T	uc001dit.3	+	15	2913	c.2732C>T	c.(2731-2733)GCT>GTT	p.A911V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A911V|LPHN2_uc001div.2_Missense_Mutation_p.A911V|LPHN2_uc009wcd.2_Missense_Mutation_p.A911V|LPHN2_uc001diw.2_Missense_Mutation_p.A495V|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	924	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82447656	82447656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82447656A>G	uc001dit.3	+	18	3408	c.3227A>G	c.(3226-3228)AAG>AGG	p.K1076R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K1076R|LPHN2_uc001div.2_Missense_Mutation_p.K1076R|LPHN2_uc009wcd.2_Missense_Mutation_p.K1076R|LPHN2_uc001diw.2_Missense_Mutation_p.K660R|LPHN2_uc009wce.1_Missense_Mutation_p.K177R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1089	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82452676	82452676	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82452676A>G	uc001dit.3	+						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Intron|LPHN2_uc001div.2_Intron|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Silent_p.V767V	NM_012302	NP_036434			latrophilin 2 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82456638	82456638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82456638T>C	uc001dit.3	+	21	4202	c.4021T>C	c.(4021-4023)TCC>CCC	p.S1341P	LPHN2_uc001dis.2_Missense_Mutation_p.S321P|LPHN2_uc001diu.2_Missense_Mutation_p.S1341P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S968P	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1397	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84348635	84348635	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84348635T>C	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84394887	84394887	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84394887A>G	uc001djc.2	-	10	1470	c.1074T>C	c.(1072-1074)ACT>ACC	p.T358T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	358	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403686	84403686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403686A>G	uc001djc.2	-	8	1133	c.737T>C	c.(736-738)ATG>ACG	p.M246T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	246	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403704	84403704	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403704A>G	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84417647	84417647	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84417647G>A	uc001djc.2	-	3	434	c.38C>T	c.(37-39)CCC>CTC	p.P13L	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	13				P -> S (in Ref. 1; AAO37763).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84864327	84864327	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84864327C>T	uc001djt.1	+	1	113	c.80C>T	c.(79-81)GCA>GTA	p.A27V	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	27					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)									Direct_reversal_of_damage					---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020676	85020676	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020676A>G	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85128059	85128059	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85128059C>T	uc001dkh.2	-	9	1025	c.750_splice	c.e9-1	p.R250_splice	SSX2IP_uc001dkf.2_Splice_Site_p.R223_splice|SSX2IP_uc001dkg.2_Splice_Site|SSX2IP_uc010orz.1_Splice_Site_p.R223_splice|SSX2IP_uc001dki.2_Splice_Site_p.R250_splice|SSX2IP_uc010osa.1_Splice_Site_p.R223_splice|SSX2IP_uc001dkj.2_Splice_Site_p.R250_splice|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Splice_Site_p.R246_splice	NM_014021	NP_054740			synovial sarcoma, X breakpoint 2 interacting						cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85279740	85279740	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85279740A>C	uc001dkl.2	-	2	890	c.851T>G	c.(850-852)CTC>CGC	p.L284R	LPAR3_uc009wcj.1_Missense_Mutation_p.L284R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	284	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5																		---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86246964	86246964	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86246964G>A	uc001dlj.2	-						COL24A1_uc001dli.2_Intron|COL24A1_uc010osd.1_Intron|COL24A1_uc001dlk.2_Intron|COL24A1_uc010ose.1_Intron|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850			collagen, type XXIV, alpha 1 precursor						cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86891127	86891127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86891127A>G	uc001dlr.3	+	2	454	c.292A>G	c.(292-294)AAC>GAC	p.N98D		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	98	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)														---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89226053	89226053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89226053T>C	uc001dmn.2	+	3	840	c.498T>C	c.(496-498)TCT>TCC	p.S166S	PKN2_uc001dmm.1_Silent_p.S166S|PKN2_uc010osp.1_Silent_p.S166S|PKN2_uc010osq.1_Silent_p.S9S|PKN2_uc009wcv.2_Silent_p.S166S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	166	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89323054	89323054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89323054A>G	uc001dmo.3	-	6	771	c.652T>C	c.(652-654)TTC>CTC	p.F218L		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)														---	---	---	---
GBP1	2633	broad.mit.edu	37	1	89521797	89521797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89521797C>T	uc001dmx.2	-	8	1490	c.1270G>A	c.(1270-1272)GCG>ACG	p.A424T		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	424					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)														---	---	---	---
GBP1	2633	broad.mit.edu	37	1	89523757	89523757	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89523757T>C	uc001dmx.2	-	6	1012	c.792A>G	c.(790-792)CAA>CAG	p.Q264Q		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	264					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)														---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89727976	89727976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89727976T>C	uc001dnc.2	-	11	2111	c.1574A>G	c.(1573-1575)CAA>CGA	p.Q525R	GBP5_uc001dnd.2_Missense_Mutation_p.Q525R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	525						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)														---	---	---	---
LRRC8D	55144	broad.mit.edu	37	1	90400154	90400154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90400154T>C	uc001dnm.2	+	3	1952	c.1527T>C	c.(1525-1527)ATT>ATC	p.I509I	LRRC8D_uc001dnn.2_Silent_p.I509I	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	509						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)														---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90487907	90487907	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90487907A>C	uc001dnq.2	+						ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021			zinc finger protein 326 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)														---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91180132	91180132	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91180132G>A	uc001dns.2	-	2	849	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	269	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91382481	91382481	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91382481T>A	uc001dnw.2	-	6	4000	c.3858A>T	c.(3856-3858)CGA>CGT	p.R1286R	ZNF644_uc001dnv.2_Silent_p.R64R|ZNF644_uc001dnx.2_Silent_p.R64R	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406878	91406878	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91406878A>G	uc001dnw.2	-						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Intron	NM_201269	NP_958357			zinc finger protein 644 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91779569	91779569	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91779569C>T	uc001doa.3	-	29	3289	c.3189G>A	c.(3187-3189)GTG>GTA	p.V1063V	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.V742V|HFM1_uc001dob.3_Silent_p.V251V|HFM1_uc010osv.1_Silent_p.V747V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1063	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91816380	91816380	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91816380A>G	uc001doa.3	-	18	2221	c.2121T>C	c.(2119-2121)CAT>CAC	p.H707H	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.H386H|HFM1_uc010osv.1_Silent_p.H391H	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92428390	92428390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92428390C>T	uc001dok.3	+	2	428	c.79C>T	c.(79-81)CGA>TGA	p.R27*	BRDT_uc001dol.3_Nonsense_Mutation_p.R27*|BRDT_uc010osz.1_Nonsense_Mutation_p.R27*|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Nonsense_Mutation_p.R27*|BRDT_uc010otb.1_Nonsense_Mutation_p.R27*|BRDT_uc001dom.3_Nonsense_Mutation_p.R27*	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92433761	92433761	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92433761T>C	uc001dok.3	+	4	738	c.389T>C	c.(388-390)TTA>TCA	p.L130S	BRDT_uc001dol.3_Missense_Mutation_p.L130S|BRDT_uc010osz.1_Missense_Mutation_p.L130S|BRDT_uc009wdf.2_Missense_Mutation_p.L57S|BRDT_uc010ota.1_Missense_Mutation_p.L84S|BRDT_uc010otb.1_Missense_Mutation_p.L84S|BRDT_uc001dom.3_Missense_Mutation_p.L130S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94033334	94033334	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94033334C>T	uc001dpz.2	-	10	2324	c.2049G>A	c.(2047-2049)CAG>CAA	p.Q683Q	BCAR3_uc001dqa.2_Silent_p.Q683Q|BCAR3_uc001dqb.2_Silent_p.Q683Q|BCAR3_uc001dpx.3_Silent_p.Q359Q|BCAR3_uc001dpy.2_Silent_p.Q592Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	683	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94049596	94049596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94049596A>G	uc001dpz.2	-	6	1287	c.1012T>C	c.(1012-1014)TCA>CCA	p.S338P	BCAR3_uc001dqa.2_Missense_Mutation_p.S338P|BCAR3_uc001dqb.2_Missense_Mutation_p.S338P|BCAR3_uc001dpx.3_Missense_Mutation_p.S14P|BCAR3_uc001dpy.2_Missense_Mutation_p.S247P|BCAR3_uc009wdm.1_Missense_Mutation_p.S14P	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	338					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94054955	94054955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94054955G>A	uc001dpz.2	-	5	783	c.508C>T	c.(508-510)CGA>TGA	p.R170*	BCAR3_uc001dqa.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.R79*|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	170	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94335500	94335500	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94335500T>A	uc001dqf.2	-	7	2216	c.2178A>T	c.(2176-2178)AGA>AGT	p.R726S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94338708	94338708	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94338708A>G	uc001dqf.2	-	4	1907	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94476478	94476478	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94476478C>T	uc001dqh.2	-	40	5696	c.5592G>A	c.(5590-5592)GAG>GAA	p.E1864E	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E132E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1864					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94544162	94544162	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94544162T>C	uc001dqh.2	-	10	1444	c.1340A>G	c.(1339-1341)CAG>CGG	p.Q447R	ABCA4_uc010otn.1_Missense_Mutation_p.Q447R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	447	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCD3	5825	broad.mit.edu	37	1	94955477	94955477	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94955477T>G	uc001dqn.3	+	15	1370	c.1268T>G	c.(1267-1269)GTC>GGC	p.V423G	ABCD3_uc010oto.1_Missense_Mutation_p.V447G|ABCD3_uc010otp.1_Missense_Mutation_p.V350G|ABCD3_uc009wdr.2_Missense_Mutation_p.V313G|ABCD3_uc001dqo.3_Missense_Mutation_p.V111G	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	423					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)														---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97250813	97250813	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97250813A>T	uc001drq.2	+						PTBP2_uc001drn.2_Intron|PTBP2_uc001dro.2_Intron|PTBP2_uc010otz.1_Intron|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drr.2_Intron|PTBP2_uc010oua.1_Intron|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron	NM_021190	NP_067013			polypyrimidine tract binding protein 2								nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97839124	97839124	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97839124C>T	uc001drv.2	-	16	2188	c.2051G>A	c.(2050-2052)TGT>TAT	p.C684Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	684					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99771407G>A	uc001dse.2	+	7	1239	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	LPPR4_uc010oue.1_Missense_Mutation_p.R320Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	378							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100525469	100525469	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100525469T>C	uc001dst.2	+	4	279	c.279T>C	c.(277-279)GGT>GGC	p.G93G		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	93	Helical; Name=2; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100547720	100547720	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100547720G>A	uc001dst.2	+	12	1428	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	476	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100588820	100588820	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100588820T>C	uc001dsu.2	-	3	293	c.152A>G	c.(151-153)GAC>GGC	p.D51G	SASS6_uc009wdz.2_Intron	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	51	PISA.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100733760	100733760	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100733760C>T	uc001dtc.2	+	3	417	c.199C>T	c.(199-201)CTG>TTG	p.L67L	RTCD1_uc010ouh.1_Silent_p.L67L|RTCD1_uc001dtd.2_Silent_p.L80L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	67					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100740491	100740491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100740491A>G	uc001dtc.2	+	6	803	c.585A>G	c.(583-585)AGA>AGG	p.R195R	RTCD1_uc001dtd.2_Silent_p.R208R	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	195					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101431466	101431466	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101431466T>A	uc001dtn.2	+	10	1262	c.1075T>A	c.(1075-1077)TTT>ATT	p.F359I	SLC30A7_uc001dto.2_Missense_Mutation_p.F359I	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	359	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)														---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101458252	101458252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101458252T>C	uc001dts.2	-	7	722	c.575A>G	c.(574-576)CAA>CGA	p.Q192R	DPH5_uc001dtr.2_Missense_Mutation_p.Q192R|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Missense_Mutation_p.Q192R|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Missense_Mutation_p.Q71R|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	192					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)														---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102290762	102290762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102290762G>A	uc001duf.2	-	4	543	c.472C>T	c.(472-474)CCC>TCC	p.P158S	OLFM3_uc001dug.2_Missense_Mutation_p.P138S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.P63S|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	158	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104118128	104118128	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:104118128G>A	uc001duq.2	+	9	1683	c.1067G>A	c.(1066-1068)AGC>AAC	p.S356N	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S356N|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	356					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107867139	107867139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107867139T>C	uc001dvh.3	+	3	1200	c.482T>C	c.(481-483)ATC>ACC	p.I161T	NTNG1_uc001dvf.3_Missense_Mutation_p.I161T|NTNG1_uc010out.1_Missense_Mutation_p.I161T|NTNG1_uc001dvc.3_Missense_Mutation_p.I161T|NTNG1_uc001dvd.1_Missense_Mutation_p.I161T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	161	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107973538	107973538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107973538A>G	uc001dvh.3	+	6	1972	c.1254A>G	c.(1252-1254)ATA>ATG	p.I418M	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	418	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109154855	109154855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109154855G>A	uc010ouy.1	+	4	424	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	115										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)														---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109321945	109321945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109321945G>A	uc001dvy.2	+	9	797	c.722G>A	c.(721-723)GGC>GAC	p.G241D	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	241	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)														---	---	---	---
CLCC1	23155	broad.mit.edu	37	1	109482311	109482311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109482311T>C	uc001dwe.1	-	9	1080	c.988A>G	c.(988-990)ATT>GTT	p.I330V	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.I330V|CLCC1_uc001dwg.1_Missense_Mutation_p.I280V|CLCC1_uc009wes.1_Missense_Mutation_p.I209V|CLCC1_uc009wet.1_Missense_Mutation_p.I145V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	330	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)														---	---	---	---
KIAA1324	57535	broad.mit.edu	37	1	109742558	109742558	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109742558G>A	uc001dwq.2	+	20	2720	c.2584G>A	c.(2584-2586)GCT>ACT	p.A862T	KIAA1324_uc009wex.1_Missense_Mutation_p.A812T|KIAA1324_uc009wey.2_Missense_Mutation_p.A775T|KIAA1324_uc010ovg.1_Missense_Mutation_p.A760T|KIAA1324_uc001dwr.2_Missense_Mutation_p.A512T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	862	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109795564	109795564	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109795564C>A	uc001dxa.3	+	1	2924	c.2863C>A	c.(2863-2865)CAG>AAG	p.Q955K		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	955	Extracellular (Potential).|Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109801132	109801132	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109801132C>T	uc001dxa.3	+	2	3450	c.3389C>T	c.(3388-3390)ACG>ATG	p.T1130M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1130	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110129475	110129475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110129475C>T	uc001dxz.2	+	7	1002	c.845C>T	c.(844-846)CCG>CTG	p.P282L		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	282					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)														---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110203856	110203856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110203856G>A	uc001dyf.2	+	8	951	c.637G>A	c.(637-639)GCT>ACT	p.A213T	GSTM4_uc001dyg.2_Missense_Mutation_p.A109T|GSTM4_uc009wfj.2_Missense_Mutation_p.A152T|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	213					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110555579	110555579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110555579T>C	uc001dyx.2	+	5	905	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	AHCYL1_uc010ovw.1_Missense_Mutation_p.Y133H|AHCYL1_uc001dyy.2_Missense_Mutation_p.Y133H|AHCYL1_uc010ovx.1_Missense_Mutation_p.Y133H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	180					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---
FAM40A	85369	broad.mit.edu	37	1	110580588	110580588	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110580588G>A	uc001dza.1	+						FAM40A_uc001dyz.1_Intron|FAM40A_uc009wfp.1_Intron	NM_033088	NP_149079			hypothetical protein LOC85369							nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)														---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110737212	110737212	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110737212C>T	uc009wfq.2	+	9	1772	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	SLC6A17_uc001dze.1_Silent_p.G35G	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	437	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)														---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111059927	111059927	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111059927C>A	uc001dzt.1	-	1	1871	c.1483G>T	c.(1483-1485)GAC>TAC	p.D495Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	495						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
C1orf103	55791	broad.mit.edu	37	1	111490579	111490579	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111490579T>C	uc001eaa.2	-	4					C1orf103_uc001dzz.2_3'UTR|C1orf103_uc001eab.2_3'UTR|C1orf103_uc001eac.1_3'UTR	NM_018372	NP_060842			receptor-interacting factor 1 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)														---	---	---	---
DRAM2	128338	broad.mit.edu	37	1	111668915	111668915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111668915C>T	uc001ead.3	-	4	390	c.133G>A	c.(133-135)GAC>AAC	p.D45N	DRAM2_uc001eae.3_Missense_Mutation_p.D45N|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	45					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0																		---	---	---	---
C1orf88	128344	broad.mit.edu	37	1	111891127	111891127	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111891127C>G	uc001eaw.2	+						C1orf88_uc001eax.2_Intron|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_5'UTR	NM_181643	NP_857594			hypothetical protein LOC128344											ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---
C1orf162	128346	broad.mit.edu	37	1	112020302	112020302	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112020302G>A	uc001ebe.2	+	5	292	c.232G>A	c.(232-234)GGC>AGC	p.G78S		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	78						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
RAP1A	5906	broad.mit.edu	37	1	112247110	112247110	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112247110T>A	uc001ebi.2	+	6	572	c.468_splice	c.e6+2	p.E156_splice	RAP1A_uc001ebk.2_Splice_Site_p.E156_splice|RAP1A_uc001ebl.2_Splice_Site_p.E156_splice|RAP1A_uc001ebm.2_Splice_Site	NM_002884	NP_002875			RAP1A, member of RAS oncogene family precursor						activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112991688	112991688	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112991688T>A	uc001ebx.2	+	4	452	c.224T>A	c.(223-225)GTC>GAC	p.V75D		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	75						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998596	112998596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998596A>G	uc001ebx.2	+	6	710	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	161	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998647	112998647	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998647T>A	uc001ebx.2	+	6	761	c.533T>A	c.(532-534)CTC>CAC	p.L178H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	178	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113197105	113197105	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113197105G>A	uc001ecj.1	+	5	630	c.238G>A	c.(238-240)GGT>AGT	p.G80S		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113217525	113217525	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113217525C>A	uc001eck.2	+	2					MOV10_uc001ecl.2_5'UTR|MOV10_uc001ecn.2_5'UTR|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	NM_001130079	NP_001123551			Mov10, Moloney leukemia virus 10, homolog						mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113238807	113238807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113238807T>C	uc001eck.2	+	12	2087	c.1817T>C	c.(1816-1818)GTA>GCA	p.V606A	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V606A|MOV10_uc001ecm.2_Missense_Mutation_p.V546A|MOV10_uc009wgj.1_Missense_Mutation_p.V546A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	606					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113653183	113653183	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113653183T>C	uc001edf.1	+	13	1995	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	LRIG2_uc009wgn.1_Silent_p.N496N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	599	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114184904	114184904	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114184904A>T	uc001edk.2	+	10	1913	c.1732A>T	c.(1732-1734)ACT>TCT	p.T578S	MAGI3_uc001edh.3_Missense_Mutation_p.T603S|MAGI3_uc001edi.3_Missense_Mutation_p.T578S|MAGI3_uc010owm.1_Missense_Mutation_p.T603S|MAGI3_uc001edj.2_Missense_Mutation_p.T299S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	603	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114247337	114247337	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114247337T>C	uc009wgp.1	-	13	2206	c.1754A>G	c.(1753-1755)AAG>AGG	p.K585R	PHTF1_uc001edn.2_Missense_Mutation_p.K585R|PHTF1_uc001edm.2_Missense_Mutation_p.K342R	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	585						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114310883	114310883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114310883G>T	uc001edq.2	-	5	1823	c.1787C>A	c.(1786-1788)GCT>GAT	p.A596D	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	596						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114320291	114320291	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114320291A>G	uc001edq.2	-	3	1551	c.1515_splice	c.e3+1	p.K505_splice	RSBN1_uc001edr.2_Splice_Site	NM_018364	NP_060834			round spermatid basic protein 1							nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114447319	114447319	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114447319C>A	uc001eeb.2	-	1	164	c.21G>T	c.(19-21)GAG>GAT	p.E7D	AP4B1_uc001eec.2_Missense_Mutation_p.E7D|AP4B1_uc001eed.2_Missense_Mutation_p.E7D|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Missense_Mutation_p.E7D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114450717	114450717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114450717A>G	uc001eeg.2	+	3	613	c.442A>G	c.(442-444)AAT>GAT	p.N148D	AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|DCLRE1B_uc001eeh.2_Missense_Mutation_p.N22D|DCLRE1B_uc001eei.2_Missense_Mutation_p.N22D	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	148					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114508904	114508904	+	Intron	SNP	C	A	A	rs79568971		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114508904C>A	uc001eem.2	+						HIPK1_uc001eel.2_Intron|HIPK1_uc001een.2_Intron|HIPK1_uc001eeo.2_Intron|HIPK1_uc001eep.2_Intron|HIPK1_uc001eeq.2_Intron	NM_198268	NP_938009			homeodomain-interacting protein kinase 1 isoform						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114680358	114680358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114680358C>T	uc001eev.2	-	3	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	277	Cytoplasmic (Potential).|C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114682276	114682276	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114682276C>T	uc001eev.2	-	2	468	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	158	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940429	114940429	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940429A>G	uc001eew.2	-	20	3309	c.3225T>C	c.(3223-3225)GAT>GAC	p.D1075D	TRIM33_uc010owr.1_Silent_p.D689D|TRIM33_uc010ows.1_Silent_p.D707D|TRIM33_uc001eex.2_Silent_p.D1058D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1075					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940559	114940559	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940559T>C	uc001eew.2	-						TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114970520	114970520	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114970520A>C	uc001eew.2	-						TRIM33_uc010owr.1_5'Flank|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
DENND2C	163259	broad.mit.edu	37	1	115130002	115130002	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115130002A>G	uc001efd.1	-						DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Intron	NM_198459	NP_940861			DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115221074	115221074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115221074T>C	uc001efe.1	-	8	1056	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	AMPD1_uc001eff.1_Silent_p.Q320Q	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	324					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)													---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115261368	115261368	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115261368T>C	uc001efk.2	-	19	2683	c.2217_splice	c.e19-1	p.C739_splice	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Splice_Site_p.C785_splice|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Splice_Site_p.C708_splice|CSDE1_uc001efm.2_Splice_Site_p.C754_splice|CSDE1_uc009wgv.2_Splice_Site_p.C739_splice|CSDE1_uc001efn.2_Splice_Site_p.C708_splice	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115282310	115282310	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115282310T>C	uc001efk.2	-						CSDE1_uc001efi.2_Intron|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Intron|CSDE1_uc001efm.2_Intron|CSDE1_uc009wgv.2_Intron|CSDE1_uc001efn.2_Intron	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115418740	115418740	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115418740A>T	uc001efr.2	+	10	917	c.708A>T	c.(706-708)AGA>AGT	p.R236S	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R236S|SYCP1_uc009wgw.2_Missense_Mutation_p.R236S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	236	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TSHB	7252	broad.mit.edu	37	1	115576796	115576796	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115576796C>A	uc001efs.1	+	3	433	c.365C>A	c.(364-366)ACA>AAA	p.T122K		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	122					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)														---	---	---	---
NHLH2	4808	broad.mit.edu	37	1	116380781	116380781	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116380781G>C	uc009wgz.2	-	2	718	c.213C>G	c.(211-213)CGC>CGG	p.R71R	NHLH2_uc001efy.2_Silent_p.R71R	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	71	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116937812	116937812	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116937812G>A	uc001ege.2	+	13	2080	c.1741G>A	c.(1741-1743)GAT>AAT	p.D581N	ATP1A1_uc010owv.1_Missense_Mutation_p.D550N|ATP1A1_uc010oww.1_Missense_Mutation_p.D581N|ATP1A1_uc010owx.1_Missense_Mutation_p.D550N|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	581	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)													---	---	---	---
CD101	9398	broad.mit.edu	37	1	117552590	117552590	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117552590G>T	uc010oxb.1	+	2	220	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CD101_uc009whd.2_Missense_Mutation_p.Q54H|CD101_uc010oxc.1_Missense_Mutation_p.Q54H|CD101_uc010oxd.1_Missense_Mutation_p.Q54H	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	54	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561006	117561006	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117561006C>T	uc010oxb.1	+	6	1899	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M	CD101_uc009whd.2_Missense_Mutation_p.T614M|CD101_uc010oxc.1_Missense_Mutation_p.T614M|CD101_uc010oxd.1_Missense_Mutation_p.T552M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	614	Extracellular (Potential).|Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117617696	117617696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117617696G>A	uc001egy.2	+	5	510	c.490G>A	c.(490-492)GAT>AAT	p.D164N	TTF2_uc001egx.1_Missense_Mutation_p.D164N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	164					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117634487	117634487	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117634487A>T	uc001egy.2	+	17	2740	c.2720A>T	c.(2719-2721)GAC>GTC	p.D907V	MIR942_hsa-mir-942|MI0005767_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	907					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
VTCN1	79679	broad.mit.edu	37	1	117695702	117695702	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117695702C>T	uc001ehb.2	-						VTCN1_uc001ehc.2_Intron|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902			V-set domain containing T cell activation							integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)														---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118009007	118009007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118009007T>C	uc001ehd.1	+	8	1847	c.1126T>C	c.(1126-1128)TAT>CAT	p.Y376H	MAN1A2_uc009whg.1_Missense_Mutation_p.Y166H	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	376	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)														---	---	---	---
FAM46C	54855	broad.mit.edu	37	1	118165851	118165851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118165851C>T	uc001ehe.2	+	2	560	c.361C>T	c.(361-363)CCA>TCA	p.P121S		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	121											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)											Multiple Myeloma(3;1.13e-06)			---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118483468	118483468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118483468C>T	uc010oxe.1	+	7	760	c.694C>T	c.(694-696)CCA>TCA	p.P232S	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P61S	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	232						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118516195	118516195	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118516195G>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118526430	118526430	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118526430T>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118527389	118527389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118527389T>C	uc001ehk.2	-	41	5754	c.5686A>G	c.(5686-5688)ACA>GCA	p.T1896A		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118530822	118530822	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118530822C>T	uc001ehk.2	-	39	5595	c.5527G>A	c.(5527-5529)GCT>ACT	p.A1843T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1843						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119584963	119584963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119584963T>C	uc001ehn.2	-	4	467	c.439A>G	c.(439-441)ACC>GCC	p.T147A	WARS2_uc010oxf.1_Missense_Mutation_p.T53A|WARS2_uc001ehm.2_Missense_Mutation_p.T147A|WARS2_uc010oxg.1_Missense_Mutation_p.T90A|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	147					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)													---	---	---	---
HAO2	51179	broad.mit.edu	37	1	119927387	119927387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119927387T>C	uc001ehq.1	+						HAO2_uc001ehr.1_Intron	NM_001005783	NP_001005783			hydroxyacid oxidase 2						fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)														---	---	---	---
PHGDH	26227	broad.mit.edu	37	1	120277395	120277395	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120277395T>G	uc001ehz.2	+						PHGDH_uc009whl.2_Missense_Mutation_p.C119G|PHGDH_uc009whm.2_Intron|PHGDH_uc001eia.2_Intron|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Intron	NM_006623	NP_006614			phosphoglycerate dehydrogenase						brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)													---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144867919	144867919	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144867919A>G	uc001elw.3	-	33	5809	c.5518_splice	c.e33+1	p.G1840_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.G1734_splice|PDE4DIP_uc001elv.3_Splice_Site_p.G847_splice|PDE4DIP_uc001ema.2_Intron	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882879	144882879	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882879T>G	uc001elw.3	-	24	3431	c.3140A>C	c.(3139-3141)AAC>ACC	p.N1047T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1113T|PDE4DIP_uc001elv.3_Missense_Mutation_p.N54T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1047					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144917847	144917847	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144917847C>T	uc001elw.3	-	11	1730	c.1439G>A	c.(1438-1440)CGA>CAA	p.R480Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R546Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R643Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R9Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R267Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	480	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144921944	144921944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144921944A>G	uc001elw.3	-	9	1376	c.1085T>C	c.(1084-1086)GTA>GCA	p.V362A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V428A|PDE4DIP_uc001emc.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emd.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emb.1_Missense_Mutation_p.V525A|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.V149A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	362	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145535890	145535890	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145535890A>T	uc001eoa.2	+	16	2154	c.2078A>T	c.(2077-2079)GAT>GTT	p.D693V	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.D562V|ITGA10_uc009wiw.2_Missense_Mutation_p.D550V|ITGA10_uc010oyw.1_Missense_Mutation_p.D638V	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	693	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562806	145562806	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145562806C>T	uc001eob.1	+	10	2602	c.2494C>T	c.(2494-2496)CTA>TTA	p.L832L	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.L675L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
RNF115	27246	broad.mit.edu	37	1	145646131	145646131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145646131G>A	uc001eoj.2	+	2	323	c.119G>A	c.(118-120)AGA>AAA	p.R40K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_5'UTR|RNF115_uc009wiy.2_5'UTR	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	40					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PRKAB2	5565	broad.mit.edu	37	1	146633349	146633349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146633349G>A	uc001epe.2	-	7	828	c.683C>T	c.(682-684)GCC>GTC	p.A228V	PRKAB2_uc010ozm.1_Missense_Mutation_p.A146V|PRKAB2_uc010ozn.1_Missense_Mutation_p.P106S|PRKAB2_uc009wjf.1_Missense_Mutation_p.A228V	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	228					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)													---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146680462	146680462	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146680462A>G	uc001epi.2	-	6	1171	c.782T>C	c.(781-783)ATA>ACA	p.I261T	FMO5_uc001eph.3_Missense_Mutation_p.I261T|FMO5_uc001epj.2_Missense_Mutation_p.I261T|FMO5_uc001epk.3_Missense_Mutation_p.I261T	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	261						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)																	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146766192	146766192	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146766192A>G	uc001epm.3	+	22	2671	c.2608A>G	c.(2608-2610)ACT>GCT	p.T870A	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.T757A|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.T776A|CHD1L_uc010ozp.1_Missense_Mutation_p.T589A|CHD1L_uc001epo.3_Missense_Mutation_p.T666A|CHD1L_uc009wji.2_Missense_Mutation_p.T589A	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	870	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147090655	147090655	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147090655A>G	uc001epq.2	+	8	1434	c.694A>G	c.(694-696)AAA>GAA	p.K232E	BCL9_uc010ozr.1_Missense_Mutation_p.K158E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	232	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147131101	147131101	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147131101G>T	uc001epr.2	-	4	997	c.533C>A	c.(532-534)GCT>GAT	p.A178D	ACP6_uc009wjj.1_Missense_Mutation_p.A135D	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	178					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)																	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149857887	149857887	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149857887G>T	uc001etc.2	-	1	346	c.304C>A	c.(304-306)CTG>ATG	p.L102M	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	102					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858906	149858906	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858906A>G	uc001etd.2	+	1	382	c.382A>G	c.(382-384)AGC>GGC	p.S128G	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	128					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149880804	149880804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149880804C>T	uc001etg.2	-	8	1810	c.1319G>A	c.(1318-1320)GGT>GAT	p.G440D	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G440D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	440	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149884847	149884847	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149884847C>A	uc001etg.2	-	2	1037	c.546G>T	c.(544-546)GAG>GAT	p.E182D	SV2A_uc001eth.2_Missense_Mutation_p.E182D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	182	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149903306	149903306	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149903306C>T	uc001etl.3	-	13	1387	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	MTMR11_uc001etm.1_Missense_Mutation_p.R307H|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Intron	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	379	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916322	149916322	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149916322C>A	uc001etn.2	-	12	2322	c.1966G>T	c.(1966-1968)GGA>TGA	p.G656*		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	656					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150065723	150065723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150065723G>A	uc001etp.2	+	13	2045	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.G455D|VPS45_uc010pbs.1_Missense_Mutation_p.G386D|VPS45_uc001etq.2_Missense_Mutation_p.G311D|VPS45_uc009wlm.1_Missense_Mutation_p.G467D	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	491					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444063	150444063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444063C>T	uc009wlr.2	+	11	2840	c.2639C>T	c.(2638-2640)GCC>GTC	p.A880V	RPRD2_uc010pcc.1_Missense_Mutation_p.A854V|RPRD2_uc001eup.3_Missense_Mutation_p.A854V	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	880	Ser-rich.						protein binding			ovary(1)	1																		---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444378	150444378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444378C>T	uc009wlr.2	+	11	3155	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M	RPRD2_uc010pcc.1_Silent_p.H912H|RPRD2_uc001eup.3_Missense_Mutation_p.T959M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	985							protein binding			ovary(1)	1																		---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150525402	150525402	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150525402C>A	uc001eux.2	+	5	343	c.107C>A	c.(106-108)CCT>CAT	p.P36H	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P36H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	36					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530529	150530529	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150530529C>A	uc001eux.2	+	14	2522	c.2286C>A	c.(2284-2286)CCC>CCA	p.P762P	ADAMTSL4_uc001euw.2_Silent_p.P762P|ADAMTSL4_uc009wlw.2_Silent_p.P785P|ADAMTSL4_uc010pcg.1_Silent_p.P723P|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	762	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150531943	150531943	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150531943G>A	uc001eux.2	+	17	3179	c.2943_splice	c.e17+1	p.P981_splice	ADAMTSL4_uc009wlw.2_Splice_Site_p.P1004_splice|ADAMTSL4_uc010pcg.1_Splice_Site_p.P942_splice|ADAMTSL4_uc009wlx.2_Splice_Site_p.P144_splice	NM_019032	NP_061905			thrombospondin repeat containing 1 isoform 1						apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)													OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151021160	151021160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151021160C>T	uc001ewn.2	+	1	902	c.837C>T	c.(835-837)ACC>ACT	p.T279T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	279						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)													OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMOD4	29765	broad.mit.edu	37	1	151143549	151143549	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151143549A>G	uc001exc.3	-						TMOD4_uc001exb.2_Intron|TMOD4_uc001exd.2_Intron|TMOD4_uc010pct.1_Intron	NM_013353	NP_037485			tropomodulin 4 (muscle)						muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151214608	151214608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151214608C>T	uc001exj.2	+	13	1825	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	PIP5K1A_uc001exi.2_Missense_Mutation_p.S445F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S418F|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	458					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151280078	151280078	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151280078T>G	uc001ext.2	-	4	1569	c.1154A>C	c.(1153-1155)CAG>CCG	p.Q385P	PI4KB_uc001exr.2_Missense_Mutation_p.Q397P|PI4KB_uc001exs.2_Missense_Mutation_p.Q370P|PI4KB_uc001exu.2_Missense_Mutation_p.Q370P|PI4KB_uc010pcw.1_Missense_Mutation_p.Q53P	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	385					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151315256	151315256	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151315256T>C	uc001exv.1	-	11	1471	c.1257A>G	c.(1255-1257)ATA>ATG	p.I419M	RFX5_uc001exw.1_Missense_Mutation_p.I419M|RFX5_uc009wmr.1_Missense_Mutation_p.I419M|RFX5_uc010pcx.1_Missense_Mutation_p.I379M	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	419						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151317258	151317258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151317258A>G	uc001exv.1	-	6	513	c.299T>C	c.(298-300)CTG>CCG	p.L100P	RFX5_uc001exw.1_Missense_Mutation_p.L100P|RFX5_uc009wmr.1_Missense_Mutation_p.L100P|RFX5_uc010pcx.1_Intron	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	100	RFX-type winged-helix.|Potential.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151378320	151378320	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151378320C>T	uc001eyd.1	-	19	3497	c.3191G>A	c.(3190-3192)GGG>GAG	p.G1064E	POGZ_uc001eye.1_Missense_Mutation_p.G1011E|POGZ_uc010pdb.1_Missense_Mutation_p.G1055E|POGZ_uc001eyf.1_Missense_Mutation_p.G1020E|POGZ_uc010pdc.1_Missense_Mutation_p.G1002E|POGZ_uc009wmv.1_Missense_Mutation_p.G969E|POGZ_uc010pdd.1_Missense_Mutation_p.G555E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1064	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151380621	151380621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151380621C>T	uc001eyd.1	-	15	2636	c.2330G>A	c.(2329-2331)CGC>CAC	p.R777H	POGZ_uc001eye.1_Missense_Mutation_p.R724H|POGZ_uc010pdb.1_Missense_Mutation_p.R768H|POGZ_uc001eyf.1_Missense_Mutation_p.R733H|POGZ_uc010pdc.1_Missense_Mutation_p.R715H|POGZ_uc009wmv.1_Missense_Mutation_p.R682H|POGZ_uc010pdd.1_Missense_Mutation_p.R268H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	777	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151400884	151400884	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151400884C>A	uc001eyd.1	-	6	880	c.574G>T	c.(574-576)GGT>TGT	p.G192C	POGZ_uc001eye.1_Missense_Mutation_p.G139C|POGZ_uc010pdb.1_Missense_Mutation_p.G192C|POGZ_uc001eyf.1_Missense_Mutation_p.G139C|POGZ_uc010pdc.1_Missense_Mutation_p.G139C|POGZ_uc009wmv.1_Missense_Mutation_p.G97C|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.G192C	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	192					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.G192D(1)		ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151506503	151506503	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151506503C>T	uc009wmw.2	+	15	2939	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	CGN_uc010pde.1_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	926	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151509216	151509216	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151509216G>A	uc009wmw.2	+	20	3461	c.3317G>A	c.(3316-3318)AGG>AAG	p.R1106K	CGN_uc010pde.1_Missense_Mutation_p.R100K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1100	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773766	151773766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151773766C>T	uc001ezf.1	-	2	1605	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	472	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058504	152058504	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152058504T>C	uc001ezo.1	-	3	1719	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	552							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152081767	152081767	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152081767C>A	uc001ezp.2	-	2	3926	c.3926G>T	c.(3925-3927)AGG>ATG	p.R1309M	TCHH_uc009wne.1_Missense_Mutation_p.R1309M	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1309	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083746	152083746	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152083746G>A	uc001ezp.2	-	2	1947	c.1947C>T	c.(1945-1947)CGC>CGT	p.R649R	TCHH_uc009wne.1_Silent_p.R649R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	649	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187726	152187726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187726A>G	uc001ezt.1	-	3	6455	c.6379T>C	c.(6379-6381)TCA>CCA	p.S2127P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2127	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187976	152187976	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187976A>G	uc001ezt.1	-	3	6205	c.6129T>C	c.(6127-6129)GGT>GGC	p.G2043G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2043	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188530	152188530	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152188530C>A	uc001ezt.1	-	3	5651	c.5575G>T	c.(5575-5577)GGC>TGC	p.G1859C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1859	20.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192748	152192748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152192748C>T	uc001ezt.1	-	3	1433	c.1357G>A	c.(1357-1359)GGC>AGC	p.G453S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	453	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152193216	152193216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275456	152275456	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152275456T>C	uc001ezu.1	-	3	11942	c.11906A>G	c.(11905-11907)CAA>CGA	p.Q3969R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3969					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152278805G>A	uc001ezu.1	-	3	8593	c.8557C>T	c.(8557-8559)CAC>TAC	p.H2853Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280937	152280937	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152280937G>A	uc001ezu.1	-	3	6461	c.6425C>T	c.(6424-6426)CCG>CTG	p.P2142L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282226	152282226	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152282226T>C	uc001ezu.1	-	3	5172	c.5136A>G	c.(5134-5136)CGA>CGG	p.R1712R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285766	152285766	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152285766G>A	uc001ezu.1	-	3	1632	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323458	152323458	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152323458T>G	uc001ezw.3	-	3	6877	c.6804A>C	c.(6802-6804)TCA>TCC	p.S2268S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2268							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325465	152325465	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152325465G>A	uc001ezw.3	-	3	4870	c.4797C>T	c.(4795-4797)TAC>TAT	p.Y1599Y	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152733357	152733357	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152733357T>C	uc001fal.1	+	2	1351	c.1293T>C	c.(1291-1293)TGT>TGC	p.C431C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	431	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152777882G>A	uc001fap.1	-	2	124	c.73C>T	c.(73-75)CCC>TCC	p.P25S		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
PGLYRP3	114771	broad.mit.edu	37	1	153274910	153274910	+	Missense_Mutation	SNP	G	A	A	rs149128791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153274910G>A	uc001fbn.1	-	5	756	c.703C>T	c.(703-705)CGG>TGG	p.R235W		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	235		Murein.			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
S100A3	6274	broad.mit.edu	37	1	153520239	153520239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153520239A>G	uc001fca.1	-	3	308	c.225T>C	c.(223-225)TAT>TAC	p.Y75Y	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	75	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153653743	153653743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153653743T>C	uc001fcs.3	+	3	1430	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	NPR1_uc010pdz.1_Missense_Mutation_p.F83L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	337	Extracellular (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)													---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153713206	153713206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153713206C>T	uc009wom.2	+	3	451	c.230C>T	c.(229-231)GCG>GTG	p.A77V	INTS3_uc001fct.2_Missense_Mutation_p.A77V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	77					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153914821	153914821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153914821G>A	uc001fdd.1	-	5	1053	c.652C>T	c.(652-654)CGC>TGC	p.R218C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	218	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153916525	153916525	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153916525G>A	uc001fdd.1	-							NM_014856	NP_055671			DENN/MADD domain containing 4B											ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947178	153947178	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947178G>A	uc001fds.2	-	5	1141	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	140	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947216C>T	uc001fds.2	-	5	1103	c.380G>A	c.(379-381)CGT>CAT	p.R127H		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	127	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153955047	153955047	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153955047G>A	uc001fdt.1	-	6	538	c.444C>T	c.(442-444)TTC>TTT	p.F148F	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	148					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153967602	153967602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153967602A>G	uc001fdw.2	-	38	5513	c.5441T>C	c.(5440-5442)CTG>CCG	p.L1814P	NUP210L_uc009woq.2_Missense_Mutation_p.L723P|NUP210L_uc010peh.1_Missense_Mutation_p.L1662P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1814	Helical; (Potential).					integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154091248	154091248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154091248G>A	uc001fdw.2	-	11	1435	c.1363C>T	c.(1363-1365)CAC>TAC	p.H455Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H455Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	455						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154228240	154228240	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154228240G>A	uc001fep.3	+						UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_Intron|UBAP2L_uc010pel.1_Intron|UBAP2L_uc010pen.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662			ubiquitin associated protein 2-like isoform a						binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544124	154544124	+	Silent	SNP	G	A	A	rs140739605		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154544124G>A	uc001ffg.2	+	5	1089	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	275	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)													---	---	---	---
ADAR	103	broad.mit.edu	37	1	154569657	154569657	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154569657T>C	uc001ffh.2	-	5	2221	c.2021A>G	c.(2020-2022)GAG>GGG	p.E674G	ADAR_uc001ffj.2_Missense_Mutation_p.E674G|ADAR_uc001ffi.2_Missense_Mutation_p.E674G|ADAR_uc001ffk.2_Missense_Mutation_p.E379G	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	674	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)														---	---	---	---
PMVK	10654	broad.mit.edu	37	1	154897634	154897634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154897634G>A	uc001ffq.2	-	5	873	c.550C>T	c.(550-552)CTG>TTG	p.L184L		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	184					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155147963	155147963	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155147963C>A	uc001fhs.1	+	2	248	c.165C>A	c.(163-165)GCC>GCA	p.A55A	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Silent_p.A42A|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.A55A|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Silent_p.A32A|TRIM46_uc009wpg.1_Silent_p.A42A|TRIM46_uc009wpf.2_Silent_p.A42A|TRIM46_uc001fhv.3_Silent_p.A42A|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	55	RING-type 1; degenerate.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155154445	155154445	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155154445G>A	uc001fhs.1	+	9	1789	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R443Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R546Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R556Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	569	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155169629	155169629	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155169629G>T	uc001fix.2	-	16	1869	c.1846C>A	c.(1846-1848)CTG>ATG	p.L616M	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.L607M|THBS3_uc001fiz.2_Missense_Mutation_p.L579M|THBS3_uc001fiy.2_Missense_Mutation_p.L145M|THBS3_uc010pfu.1_Missense_Mutation_p.L496M|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	616	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155220430	155220430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155220430G>A	uc001fjm.2	-	9	1753	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R185W|FAM189B_uc001fjn.2_Missense_Mutation_p.R287W|FAM189B_uc001fjo.2_Missense_Mutation_p.R365W|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	383						integral to membrane	WW domain binding			ovary(1)|breast(1)	2																		---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155226553	155226553	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155226553T>A	uc001fjs.2	-	8	1062	c.809A>T	c.(808-810)AAG>ATG	p.K270M	RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.K117M|SCAMP3_uc001fju.2_Missense_Mutation_p.K256M|SCAMP3_uc001fjv.2_Missense_Mutation_p.R266W|SCAMP3_uc001fjt.2_Missense_Mutation_p.K244M	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	270					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FDPS	2224	broad.mit.edu	37	1	155289429	155289429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155289429G>A	uc001fkc.2	+	9	1093	c.874G>A	c.(874-876)GCC>ACC	p.A292T	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A226T|FDPS_uc001fke.2_Missense_Mutation_p.A292T|FDPS_uc001fkf.2_Missense_Mutation_p.A226T|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	292					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)													---	---	---	---
C1orf104	284618	broad.mit.edu	37	1	155290616	155290616	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155290616C>A	uc001fki.2	-	2	941	c.664G>T	c.(664-666)GCG>TCG	p.A222S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	222											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155349857	155349857	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155349857G>T	uc009wqq.2	-	8	6649	c.6169C>A	c.(6169-6171)CTT>ATT	p.L2057I	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.L2052I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2057					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449639	155449639	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155449639A>G	uc009wqq.2	-	3	3502	c.3022T>C	c.(3022-3024)TCA>CCA	p.S1008P	ASH1L_uc001fkt.2_Missense_Mutation_p.S1008P|ASH1L_uc009wqr.1_Missense_Mutation_p.S1008P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1008					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450153	155450153	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450153C>T	uc009wqq.2	-	3	2988	c.2508G>A	c.(2506-2508)ATG>ATA	p.M836I	ASH1L_uc001fkt.2_Missense_Mutation_p.M836I|ASH1L_uc009wqr.1_Missense_Mutation_p.M836I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	836					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450980	155450980	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450980T>C	uc009wqq.2	-	3	2161	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	ASH1L_uc001fkt.2_Missense_Mutation_p.T561A|ASH1L_uc009wqr.1_Missense_Mutation_p.T561A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	561					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155451081	155451081	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155451081C>T	uc009wqq.2	-	3	2060	c.1580G>A	c.(1579-1581)TGC>TAC	p.C527Y	ASH1L_uc001fkt.2_Missense_Mutation_p.C527Y|ASH1L_uc009wqr.1_Missense_Mutation_p.C527Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	527					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155721929	155721929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155721929A>T	uc001flz.2	-	30	6392	c.6295T>A	c.(6295-6297)TCA>ACA	p.S2099T	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S2098T|GON4L_uc009wrh.1_Missense_Mutation_p.S2098T|GON4L_uc001fma.1_Missense_Mutation_p.S2099T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2099					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838037	155838037	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155838037C>T	uc001fmg.2	+	2	579	c.316C>T	c.(316-318)CGA>TGA	p.R106*	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)															---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886463	155886463	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155886463T>C	uc001fmi.1	-	12	1530	c.1506A>G	c.(1504-1506)GCA>GCG	p.A502A	KIAA0907_uc001fmj.1_Silent_p.A502A|KIAA0907_uc009wrk.1_Silent_p.A359A|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	502											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)															---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155891401	155891401	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155891401G>T	uc001fmi.1	-	10	1055	c.1031C>A	c.(1030-1032)GCT>GAT	p.A344D	KIAA0907_uc001fmj.1_Missense_Mutation_p.A344D|KIAA0907_uc009wrk.1_Missense_Mutation_p.A201D|KIAA0907_uc009wrl.1_Intron|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Intron	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	344	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)															---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156452228	156452228	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156452228C>T	uc001fpc.2	-	3	648	c.258_splice	c.e3+1	p.E86_splice	MEF2D_uc001fpb.2_Splice_Site_p.E86_splice|MEF2D_uc001fpd.2_Splice_Site_p.E86_splice|MEF2D_uc001fpe.1_Splice_Site_p.E86_splice|MEF2D_uc009wsa.2_Splice_Site	NM_005920	NP_005911			myocyte enhancer factor 2D						apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156498800	156498800	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156498800G>T	uc001fpf.2	-	35	4554	c.4479C>A	c.(4477-4479)GGC>GGA	p.G1493G		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1493					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156500056	156500056	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156500056T>C	uc001fpf.2	-	34	4320	c.4245A>G	c.(4243-4245)ACA>ACG	p.T1415T		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1415					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156518533	156518533	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156518533A>G	uc001fpf.2	-	17	1908	c.1833T>C	c.(1831-1833)CTT>CTC	p.L611L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	611					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156621427	156621427	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156621427G>T	uc001fpp.2	+	7	1579	c.1243G>T	c.(1243-1245)GGA>TGA	p.G415*	BCAN_uc001fpo.2_Nonsense_Mutation_p.G415*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	415	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156697311	156697311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156697311T>C	uc001fps.1	-	1	395	c.134A>G	c.(133-135)AAC>AGC	p.N45S	ISG20L2_uc001fpt.1_Missense_Mutation_p.N45S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	45					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf66	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156703256C>T	uc001fpu.2	+	5	1214	c.580C>T	c.(580-582)CGC>TGC	p.R194C	C1orf66_uc001fpv.2_Missense_Mutation_p.R194C	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	194	Potential.					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156756637	156756637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156756637G>A	uc001fqa.2	+	3	1044	c.754G>A	c.(754-756)GCT>ACT	p.A252T	PRCC_uc001fqb.2_Missense_Mutation_p.A252T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	252					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							T	TFE3	papillary renal 								---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156814013	156814013	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156814013G>A	uc010pht.1	-	15	3051	c.2797C>T	c.(2797-2799)CTG>TTG	p.L933L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	933	Helical; (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf92	149499	broad.mit.edu	37	1	156897405	156897405	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156897405T>G	uc001fqm.2	+	7	952	c.780T>G	c.(778-780)GGT>GGG	p.G260G	C1orf92_uc001fql.2_Silent_p.G45G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	260	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)															OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156914939	156914939	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156914939C>T	uc001fqo.2	-	29	3783	c.2743G>A	c.(2743-2745)GAG>AAG	p.E915K	ARHGEF11_uc010phu.1_Missense_Mutation_p.E331K|ARHGEF11_uc001fqn.2_Missense_Mutation_p.E955K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	915	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156916542	156916542	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156916542G>A	uc001fqo.2	-	27	3526	c.2486C>T	c.(2485-2487)GCT>GTT	p.A829V	ARHGEF11_uc010phu.1_Missense_Mutation_p.A245V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A869V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	829	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156918229	156918229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156941587	156941587	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156941587G>A	uc001fqo.2	-						ARHGEF11_uc001fqn.2_Missense_Mutation_p.R202W	NM_014784	NP_055599			Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488498	157488498	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488498T>A	uc001fqu.2	-	14	2893	c.2735A>T	c.(2734-2736)TAC>TTC	p.Y912F	FCRL5_uc009wsm.2_Missense_Mutation_p.Y912F	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	912	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488576	157488576	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488576T>C	uc001fqu.2	-						FCRL5_uc009wsm.2_Intron	NM_031281	NP_112571			Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157739769	157739769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157739769T>C	uc001fre.2	-	4	541	c.482A>G	c.(481-483)GAG>GGG	p.E161G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E161G|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E161G	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	161	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---
CD1D	912	broad.mit.edu	37	1	158152735	158152735	+	Silent	SNP	T	C	C	rs141805163		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158152735T>C	uc001frr.2	+	5	1174	c.675T>C	c.(673-675)CAT>CAC	p.H225H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	225	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450322	158450322	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158450322A>T	uc010pik.1	+	1	655	c.655A>T	c.(655-657)ATA>TTA	p.I219L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576558	158576558	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576558T>C	uc010pio.1	+	1	330	c.330T>C	c.(328-330)ACT>ACC	p.T110T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576645	158576645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576645C>T	uc010pio.1	+	1	417	c.417C>T	c.(415-417)ACC>ACT	p.T139T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158589953	158589953	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158589953A>C	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158621206	158621206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158621206T>A	uc001fst.1	-	24	3627	c.3428A>T	c.(3427-3429)GAT>GTT	p.D1143V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1143	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158622391	158622391	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158622391G>A	uc001fst.1	-	23	3440	c.3241C>T	c.(3241-3243)CGT>TGT	p.R1081C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1081					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687118	158687118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687118T>C	uc010pip.1	-	1	836	c.836A>G	c.(835-837)GAC>GGC	p.D279G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687335	158687335	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687335C>G	uc010pip.1	-	1	619	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	207	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687490	158687490	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687490C>A	uc010pip.1	-	1	464	c.464G>T	c.(463-465)CGG>CTG	p.R155L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	155	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158986335	158986335	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158986335T>C	uc001ftf.1	+	5	1001	c.394T>C	c.(394-396)TCA>CCA	p.S132P	IFI16_uc001ftg.2_Missense_Mutation_p.S132P|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	132	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683503	159683503	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159683503T>A	uc001ftw.2	-	2	591	c.487A>T	c.(487-489)AAC>TAC	p.N163Y	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	163	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)													---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159778831	159778831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159778831A>G	uc001fud.3	+	4	442	c.400A>G	c.(400-402)ACA>GCA	p.T134A	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.T141A|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.T134A	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	134	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159780016	159780016	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159780016T>A	uc001fud.3	+						FCRL6_uc001fuc.2_Intron|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Intron	NM_001004310	NP_001004310			Fc receptor-like 6 precursor							integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159901373	159901373	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159901373G>T	uc001fur.2	-	12	1581	c.1383C>A	c.(1381-1383)GGC>GGA	p.G461G	IGSF9_uc001fuq.2_Silent_p.G445G|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	461	Ig-like 5.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923322	159923322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923322G>T	uc001fus.2	-	2	285	c.168C>A	c.(166-168)TCC>TCA	p.S56S	SLAMF9_uc009wtd.2_Silent_p.S56S|SLAMF9_uc001fut.2_Silent_p.S56S	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	56	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923879	159923879	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923879C>T	uc001fus.2	-						SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273			SLAM family member 9 isoform 1							integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012208	160012208	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160012208C>T	uc001fuw.1	-	2	265	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	39	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098618	160098618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160098618T>C	uc001fvc.2	+	9	1326	c.1194T>C	c.(1192-1194)GCT>GCC	p.A398A	ATP1A2_uc001fvb.2_Silent_p.A398A|ATP1A2_uc010piz.1_Silent_p.A243A|ATP1A2_uc001fvd.2_Silent_p.A134A|ATP1A2_uc009wtg.1_Silent_p.A86A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	398	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160099949	160099949	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160099949G>A	uc001fvc.2	+	12	1651	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A507T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A243T|ATP1A2_uc009wtg.1_Missense_Mutation_p.A195T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	507	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160164845	160164845	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160164845T>C	uc010pja.1	+	4	766	c.509T>C	c.(508-510)CTG>CCG	p.L170P		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	170						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160187442	160187442	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160187442G>A	uc001fvo.2	-	14	2046	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	DCAF8_uc001fvn.2_Silent_p.S578S|DCAF8_uc009wth.2_Silent_p.S578S|DCAF8_uc010pjb.1_Silent_p.S578S|DCAF8_uc010pjc.1_Silent_p.S732S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2																		---	---	---	---
COPA	1314	broad.mit.edu	37	1	160261161	160261161	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160261161T>C	uc009wti.2	-	31	3778	c.3384A>G	c.(3382-3384)CTA>CTG	p.L1128L	COPA_uc001fvv.3_Silent_p.L1137L	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	1128					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)													OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160264607	160264607	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160264607A>G	uc009wti.2	-	24	2911	c.2517T>C	c.(2515-2517)ACT>ACC	p.T839T	COPA_uc001fvv.3_Silent_p.T848T	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	839					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
COPA	1314	broad.mit.edu	37	1	160268779	160268779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160268779T>C	uc009wti.2	-	19	2227	c.1833A>G	c.(1831-1833)GTA>GTG	p.V611V	COPA_uc001fvv.3_Silent_p.V620V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	611					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160322757	160322757	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160322757T>C	uc001fvx.2	+	9	1201	c.1077T>C	c.(1075-1077)GTT>GTC	p.V359V	NCSTN_uc001fvy.2_Silent_p.V339V|NCSTN_uc010pjf.1_Silent_p.V221V|NCSTN_uc001fvz.2_Silent_p.V139V|NCSTN_uc010pjg.1_Silent_p.V101V	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	359	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160385846	160385846	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160385846C>T	uc001fwb.1	+						VANGL2_uc001fwc.1_Intron	NM_020335	NP_065068			vang-like 2						apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607140	160607140	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607140C>T	uc001fwl.3	-	2	602	c.256G>A	c.(256-258)GCA>ACA	p.A86T	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.A86T	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	86	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD48	962	broad.mit.edu	37	1	160654897	160654897	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160654897T>C	uc001fwn.2	-	2	197	c.165A>G	c.(163-165)CAA>CAG	p.Q55Q	CD48_uc001fwo.1_Silent_p.Q55Q|CD48_uc001fwp.2_Silent_p.Q55Q	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	55	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
SLAMF7	57823	broad.mit.edu	37	1	160718142	160718142	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160718142G>T	uc001fwq.2	+	2	229	c.214G>T	c.(214-216)GTG>TTG	p.V72L	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.V72L|SLAMF7_uc010pjo.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	72	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
ITLN1	55600	broad.mit.edu	37	1	160850383	160850383	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160850383C>T	uc001fxc.2	-	6	796	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	227	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)															---	---	---	---
USF1	7391	broad.mit.edu	37	1	161009746	161009746	+	Silent	SNP	G	A	A	rs146372368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161009746G>A	uc001fxi.2	-	11	1092	c.897C>T	c.(895-897)CAC>CAT	p.H299H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.H240H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	299					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
PPOX	5498	broad.mit.edu	37	1	161137170	161137170	+	Missense_Mutation	SNP	C	T	T	rs78028107		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161137170C>T	uc001fyj.2	+	4	522	c.232C>T	c.(232-234)CTT>TTT	p.L78F	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L78F|PPOX_uc001fyl.2_Missense_Mutation_p.L44F|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	78					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											Porphyria_Variegata				---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161201198	161201198	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161201198T>C	uc001fzx.2	-	6	818	c.615A>G	c.(613-615)GTA>GTG	p.V205V	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.V205V|NR1I3_uc001fzg.2_Silent_p.V176V|NR1I3_uc001fzh.2_Silent_p.V176V|NR1I3_uc001fzi.2_Silent_p.V176V|NR1I3_uc001fzj.2_Silent_p.V176V|NR1I3_uc001fzk.2_Silent_p.V176V|NR1I3_uc001fzl.2_Silent_p.V176V|NR1I3_uc001fzm.2_Silent_p.V130V|NR1I3_uc001fzn.2_Silent_p.V38V|NR1I3_uc009wug.2_Silent_p.V38V|NR1I3_uc001fzp.2_Silent_p.V205V|NR1I3_uc001fzo.2_Silent_p.V38V|NR1I3_uc001fzq.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzr.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzs.2_Silent_p.V38V|NR1I3_uc001fzt.2_Silent_p.V38V|NR1I3_uc001fzu.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzv.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzw.2_Silent_p.V205V|NR1I3_uc001fzy.2_Silent_p.V205V|NR1I3_uc001fzz.2_Silent_p.V205V|NR1I3_uc001gaa.2_Silent_p.V205V|NR1I3_uc001gab.2_Silent_p.V205V|NR1I3_uc001gac.2_Silent_p.V176V|NR1I3_uc010pkm.1_Silent_p.V176V|NR1I3_uc010pkn.1_Silent_p.V205V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	205					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161203072	161203072	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161203072C>T	uc001fzx.2	-	4	498	c.295G>A	c.(295-297)GCA>ACA	p.A99T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A99T|NR1I3_uc001fzg.2_Missense_Mutation_p.A70T|NR1I3_uc001fzh.2_Missense_Mutation_p.A70T|NR1I3_uc001fzi.2_Missense_Mutation_p.A70T|NR1I3_uc001fzj.2_Missense_Mutation_p.A70T|NR1I3_uc001fzk.2_Missense_Mutation_p.A70T|NR1I3_uc001fzl.2_Missense_Mutation_p.A70T|NR1I3_uc001fzm.2_Missense_Mutation_p.A24T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A99T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A99T|NR1I3_uc001fzy.2_Missense_Mutation_p.A99T|NR1I3_uc001fzz.2_Missense_Mutation_p.A99T|NR1I3_uc001gaa.2_Missense_Mutation_p.A99T|NR1I3_uc001gab.2_Missense_Mutation_p.A99T|NR1I3_uc001gac.2_Missense_Mutation_p.A70T|NR1I3_uc010pkm.1_Missense_Mutation_p.A70T|NR1I3_uc010pkn.1_Missense_Mutation_p.A99T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161284191	161284191	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161284191C>A	uc001gag.2	+	1					SDHC_uc001gai.2_5'UTR|SDHC_uc001gaj.2_5'UTR|SDHC_uc001gak.2_5'UTR|SDHC_uc001gah.2_5'Flank	NM_003001	NP_002992			succinate dehydrogenase complex, subunit C						respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495350	161495350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495350G>A	uc001gap.2	+	2	1562	c.902G>A	c.(901-903)CGT>CAT	p.R301H	HSPA6_uc001gaq.2_Missense_Mutation_p.R301H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	301					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495882	161495882	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495882G>A	uc001gap.2	+	2	2094	c.1434G>A	c.(1432-1434)GTG>GTA	p.V478V	HSPA6_uc001gaq.2_Silent_p.V478V	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	478					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
FCGR3B	2215	broad.mit.edu	37	1	161599765	161599765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161599765T>C	uc009wul.2	-	3	396	c.122A>G	c.(121-123)GAC>GGC	p.D41G		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	41	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161697222	161697222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161697222C>T	uc001gbh.2	+	8	1285	c.1051C>T	c.(1051-1053)CCA>TCA	p.P351S	FCRLB_uc009wus.2_Missense_Mutation_p.P351S|FCRLB_uc001gbj.2_Silent_p.G302G|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.G295G|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.P351S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	351						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)															---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161789480	161789480	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161789480T>A	uc001gbr.2	+	8	1034	c.967T>A	c.(967-969)TCT>ACT	p.S323T	ATF6_uc001gbq.1_Missense_Mutation_p.S323T	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	323	Basic motif.|Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)															---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161954054	161954054	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161954054T>A	uc001gbu.2	-	8	2088	c.1664A>T	c.(1663-1665)AAT>ATT	p.N555I	OLFML2B_uc001gbt.2_Missense_Mutation_p.N38I|OLFML2B_uc010pkq.1_Missense_Mutation_p.N556I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	555	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162313640	162313640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162313640A>G	uc001gbv.2	+	6	856	c.469A>G	c.(469-471)ATC>GTC	p.I157V	NOS1AP_uc010pkr.1_Missense_Mutation_p.I152V|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.I152V	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	157	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)															---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162469877	162469877	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162469877T>C	uc001gcc.1	+	2	537	c.401T>C	c.(400-402)ATG>ACG	p.M134T	UHMK1_uc001gcb.1_Missense_Mutation_p.M60T|UHMK1_uc009wuu.1_Missense_Mutation_p.M134T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	134	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)															---	---	---	---
HSD17B7	51478	broad.mit.edu	37	1	162766377	162766377	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162766377T>G	uc001gci.2	+	3	337	c.242T>G	c.(241-243)TTT>TGT	p.F81C	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	81	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)													---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163117247	163117247	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:163117247A>C	uc001gcn.2	-	5	678	c.431T>G	c.(430-432)GTG>GGG	p.V144G	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	144	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)															---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818552	166818552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818552G>A	uc001gdt.1	+	5	856	c.736G>A	c.(736-738)GCC>ACC	p.A246T	POGK_uc010ple.1_Missense_Mutation_p.A161T|POGK_uc010plf.1_Missense_Mutation_p.A128T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	246					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818591	166818591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818591T>C	uc001gdt.1	+	5	895	c.775T>C	c.(775-777)TTT>CTT	p.F259L	POGK_uc010ple.1_Missense_Mutation_p.F174L|POGK_uc010plf.1_Missense_Mutation_p.F141L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	259	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166962057	166962057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166962057T>C	uc001gdy.1	+	4	531	c.460T>C	c.(460-462)TTC>CTC	p.F154L	MAEL_uc001gdz.1_Missense_Mutation_p.F123L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	154					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167844425	167844425	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167844425C>A	uc001ger.2	-	13	1705	c.1407_splice	c.e13-1	p.V469_splice	ADCY10_uc009wvk.2_Splice_Site_p.V377_splice|ADCY10_uc010plj.1_Splice_Site_p.V316_splice|ADCY10_uc009wvl.2_Splice_Site_p.V468_splice	NM_018417	NP_060887			adenylate cyclase 10						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168250426	168250426	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168250426A>C	uc001gfl.2	+	1	149	c.98A>C	c.(97-99)AAA>ACA	p.K33T	TBX19_uc001gfj.3_Intron	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	33					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168278029	168278029	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168278029T>C	uc001gfl.2	+	7	1017	c.966T>C	c.(964-966)CCT>CCC	p.P322P	TBX19_uc001gfj.3_Silent_p.P190P|TBX19_uc001gfm.2_Silent_p.P25P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	322					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
C1orf114	57821	broad.mit.edu	37	1	169366587	169366587	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169366587T>A	uc001gga.1	-	5	1426	c.1258A>T	c.(1258-1260)AAA>TAA	p.K420*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.K419*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.K419*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	420											0	all_hematologic(923;0.208)																	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169435124	169435124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169435124T>C	uc001gge.3	-	6	1661	c.1457A>G	c.(1456-1458)GAA>GGA	p.E486G	SLC19A2_uc001ggf.3_Missense_Mutation_p.E285G	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	486	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)																	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510886	169510886	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510886A>T	uc001ggg.1	-	13	3587	c.3442T>A	c.(3442-3444)TCC>ACC	p.S1148T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1148	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
F5	2153	broad.mit.edu	37	1	169519212	169519212	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169519212T>G	uc001ggg.1	-	10	1583	c.1438A>C	c.(1438-1440)ACC>CCC	p.T480P	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	480	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
SELE	6401	broad.mit.edu	37	1	169702011	169702011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169702011T>C	uc001ggm.3	-	3	323	c.166A>G	c.(166-168)ATT>GTT	p.I56V	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	56	Extracellular (Potential).|C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169845114	169845114	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169845114C>T	uc001ggs.2	-						SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607			SCY1-like 3 isoform 2						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169847941	169847941	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169847941T>A	uc001ggs.2	-	3	383	c.185A>T	c.(184-186)CAC>CTC	p.H62L	SCYL3_uc001ggt.2_Missense_Mutation_p.H62L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	62	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170003615	170003615	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170003615T>C	uc001ggv.2	-	7	911	c.640A>G	c.(640-642)ATT>GTT	p.I214V	KIFAP3_uc010ply.1_Missense_Mutation_p.I136V|KIFAP3_uc001ggw.1_Missense_Mutation_p.I170V	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	214					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171244546	171244546	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171244546T>C	uc009wvz.2	+	4	519	c.383T>C	c.(382-384)GTC>GCC	p.V128A	FMO1_uc010pme.1_Missense_Mutation_p.V65A|FMO1_uc001ghl.2_Missense_Mutation_p.V128A|FMO1_uc001ghm.2_Missense_Mutation_p.V128A|FMO1_uc001ghn.2_Missense_Mutation_p.V128A	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	128					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171535990	171535990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171535990A>G	uc010pmg.1	+						BAT2L2_uc010pmh.1_Intron|BAT2L2_uc010pmi.1_Intron	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
VAMP4	8674	broad.mit.edu	37	1	171707551	171707551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171707551G>A	uc001ghx.1	-	2	218	c.4C>T	c.(4-6)CCT>TCT	p.P2S	VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.P2S	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	2	Cytoplasmic (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753267	171753267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171753267G>A	uc001ghz.2	+	2	888	c.541G>A	c.(541-543)GTG>ATG	p.V181M	METTL13_uc001gia.2_Missense_Mutation_p.V95M|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.V180M	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	181							methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171761377	171761377	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171761377T>C	uc001ghz.2	+	6	2040	c.1693_splice	c.e6+2	p.A565_splice	METTL13_uc001gia.2_Splice_Site_p.A479_splice|METTL13_uc001gib.2_Splice_Site_p.A409_splice|METTL13_uc010pml.1_Splice_Site_p.A564_splice|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019			CGI-01 protein isoform 1								methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172357785	172357785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172357785C>T	uc001gie.2	+	20	2534	c.2358C>T	c.(2356-2358)GGC>GGT	p.G786G	DNM3_uc001gif.2_Silent_p.G782G|DNM3_uc001gih.1_Silent_p.G142G	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	792					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---
PIGC	5279	broad.mit.edu	37	1	172411759	172411759	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172411759A>G	uc001gil.2	-	2	285	c.4T>C	c.(4-6)TAT>CAT	p.Y2H	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.Y2H|PIGC_uc001gio.2_Missense_Mutation_p.Y2H	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	2					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
FASLG	356	broad.mit.edu	37	1	172635150	172635150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172635150G>A	uc001gis.2	+	4	997	c.840G>A	c.(838-840)AAG>AAA	p.K280K	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	280	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3																		---	---	---	---
TNFSF4	7292	broad.mit.edu	37	1	173157719	173157719	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173157719A>G	uc001giw.2	-						TNFSF4_uc001giv.2_Intron	NM_003326	NP_003317			tumor necrosis factor (ligand) superfamily,						acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1																		---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173456932	173456932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173456932T>A	uc001giy.1	+	5	656	c.605T>A	c.(604-606)TTC>TAC	p.F202Y		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	202					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173516834	173516834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173516834T>C	uc001giz.2	-	13	1974	c.1551A>G	c.(1549-1551)ATA>ATG	p.I517M	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75M|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173523865	173523865	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173523865A>G	uc001giz.2	-						SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622			solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
CENPL	91687	broad.mit.edu	37	1	173780280	173780280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173780280G>A	uc001gje.3	-	2	372	c.158C>T	c.(157-159)TCG>TTG	p.S53L	CENPL_uc009wwg.2_5'UTR|CENPL_uc001gjg.3_Missense_Mutation_p.S53L|CENPL_uc001gjf.3_Missense_Mutation_p.S53L	NM_033319	NP_201576	Q8N0S6	CENPL_HUMAN	centromere protein L isoform 2	53					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0																		---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173934070	173934070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173934070A>G	uc001gju.3	-	9	1610	c.1523T>C	c.(1522-1524)ATT>ACT	p.I508T	RC3H1_uc010pms.1_Missense_Mutation_p.I508T|RC3H1_uc001gjv.2_Missense_Mutation_p.I508T|RC3H1_uc010pmt.1_Missense_Mutation_p.I508T	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	508					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174221683	174221683	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174221683T>C	uc001gjx.2	+	7	1136	c.941T>C	c.(940-942)GTG>GCG	p.V314A	RABGAP1L_uc009wwq.1_Missense_Mutation_p.V326A|RABGAP1L_uc001gjw.2_Missense_Mutation_p.V277A|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	314					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417491	174417491	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174417491A>T	uc001gka.1	+	1	280	c.242A>T	c.(241-243)CAG>CTG	p.Q81L	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	81	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671273	174671273	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671273G>A	uc001gjx.2	+	17	2243	c.2048G>A	c.(2047-2049)AGC>AAC	p.S683N	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Missense_Mutation_p.S9N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	683	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671283	174671283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671283T>C	uc001gjx.2	+	17	2253	c.2058T>C	c.(2056-2058)TCT>TCC	p.S686S	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Silent_p.S12S	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	686	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335099	175335099	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175335099A>T	uc001gkp.1	-	9	2310	c.2229T>A	c.(2227-2229)GAT>GAA	p.D743E	TNR_uc009wwu.1_Missense_Mutation_p.D743E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	743	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372423	175372423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372423C>T	uc001gkp.1	-	2	910	c.829G>A	c.(829-831)GCC>ACC	p.A277T	TNR_uc009wwu.1_Missense_Mutation_p.A277T|TNR_uc010pmz.1_Missense_Mutation_p.A277T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	277	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372644	175372644	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372644T>C	uc001gkp.1	-	2	689	c.608A>G	c.(607-609)TAC>TGC	p.Y203C	TNR_uc009wwu.1_Missense_Mutation_p.Y203C|TNR_uc010pmz.1_Missense_Mutation_p.Y203C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	203	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525547	176525547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176525547G>A	uc001gkz.2	+	2	1253	c.89G>A	c.(88-90)CGC>CAC	p.R30H	PAPPA2_uc001gky.1_Missense_Mutation_p.R30H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	30					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679181	176679181	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679181A>C	uc001gkz.2	+	11	4684	c.3520A>C	c.(3520-3522)ACC>CCC	p.T1174P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1174					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679281	176679281	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679281T>A	uc001gkz.2	+	11	4784	c.3620T>A	c.(3619-3621)GTT>GAT	p.V1207D	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838049	176838049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176838049T>C	uc001glc.2	-	22	3790	c.3578A>G	c.(3577-3579)TAC>TGC	p.Y1193C	ASTN1_uc001glb.1_Missense_Mutation_p.Y1193C|ASTN1_uc001gld.1_Missense_Mutation_p.Y1193C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1201					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176853605	176853605	+	Silent	SNP	G	A	A	rs144434019		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176853605G>A	uc001glc.2	-	19	3308	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ASTN1_uc001glb.1_Silent_p.H1032H|ASTN1_uc001gld.1_Silent_p.H1032H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1040	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
FAM5B	57795	broad.mit.edu	37	1	177250429	177250429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177250429A>G	uc001glf.2	+	8	2429	c.2117A>G	c.(2116-2118)TAC>TGC	p.Y706C	FAM5B_uc001glg.2_Missense_Mutation_p.Y601C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	706						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178252710	178252710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178252710C>T	uc001glq.2	+	2	978	c.214C>T	c.(214-216)CCA>TCA	p.P72S	RASAL2_uc009wxb.2_Missense_Mutation_p.P72S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5																		---	---	---	---
C1orf125	126859	broad.mit.edu	37	1	179363085	179363085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179363085A>G	uc001gmo.2	+	10	1038	c.911A>G	c.(910-912)GAT>GGT	p.D304G	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.D92G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D304G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	304											0																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179983259	179983259	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179983259A>G	uc001gnt.2	+	10	2054	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CEP350_uc009wxl.2_Silent_p.S556S|CEP350_uc001gnu.2_Silent_p.S391S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	557						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180000515	180000515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180000515G>A	uc001gnt.2	+	15	3994	c.3611G>A	c.(3610-3612)CGT>CAT	p.R1204H	CEP350_uc009wxl.2_Missense_Mutation_p.R1203H|CEP350_uc001gnu.2_Missense_Mutation_p.R1037H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1204	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180064877	180064877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180064877G>A	uc001gnt.2	+	35	9114	c.8731G>A	c.(8731-8733)GAA>AAA	p.E2911K	CEP350_uc009wxl.2_Missense_Mutation_p.E2910K|CEP350_uc001gnv.2_Missense_Mutation_p.E1046K|CEP350_uc001gnw.1_Missense_Mutation_p.E668K|CEP350_uc001gnx.1_Missense_Mutation_p.E668K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2911						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243369	180243369	+	Silent	SNP	C	T	T	rs139155359		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243369C>T	uc001goe.1	+	6	1051	c.828C>T	c.(826-828)AAC>AAT	p.N276N	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243511	180243511	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243511G>A	uc001goe.1	+	6	1193	c.970G>A	c.(970-972)GCT>ACT	p.A324T	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180399357	180399357	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180399357C>T	uc001gog.2	-	4	1046	c.425G>A	c.(424-426)GGT>GAT	p.G142D		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	142						cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
STX6	10228	broad.mit.edu	37	1	180953816	180953816	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180953816T>A	uc010pnq.1	-	7	925	c.688A>T	c.(688-690)AGT>TGT	p.S230C	STX6_uc001goo.2_Missense_Mutation_p.S230C|STX6_uc010pnr.1_Missense_Mutation_p.S129C	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	230	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1																		---	---	---	---
MR1	3140	broad.mit.edu	37	1	181022773	181022773	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181022773G>T	uc001goq.1	+	5	950	c.945G>T	c.(943-945)CTG>CTT	p.L315L	MR1_uc001gor.1_Silent_p.L270L|MR1_uc001gos.1_Silent_p.L223L|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	315	Helical; (Potential).			L -> P (in Ref. 4; BAD96630).	antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1																		---	---	---	---
IER5	51278	broad.mit.edu	37	1	181059004	181059004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181059004A>G	uc001got.3	+	1	1367	c.966A>G	c.(964-966)ACA>ACG	p.T322T		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	322										pancreas(1)	1																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181708397	181708397	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181708397A>G	uc001gow.2	+						CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_Intron|CACNA1E_uc009wxt.2_Intron	NM_000721	NP_000712			calcium channel, voltage-dependent, R type,						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181764126	181764126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181764126C>T	uc001gow.2	+	45	6190	c.6025C>T	c.(6025-6027)CGG>TGG	p.R2009W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1897W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1278W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2052	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182355457	182355457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182355457A>G	uc001gpa.1	-	4	621	c.409T>C	c.(409-411)TAT>CAT	p.Y137H	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.Y137H|GLUL_uc001gpc.1_Missense_Mutation_p.Y137H|GLUL_uc001gpd.1_Missense_Mutation_p.Y137H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	137					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)													---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550471	182550471	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182550471A>G	uc001gpj.1	-	4	1961	c.1794T>C	c.(1792-1794)AAT>AAC	p.N598N	RNASEL_uc009wxz.1_Silent_p.N598N|RNASEL_uc001gpk.2_Silent_p.N598N	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	598	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5														Hereditary_Prostate_Cancer				---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182856359	182856359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182856359C>T	uc001gpr.2	+	28	3766	c.3603C>T	c.(3601-3603)GGC>GGT	p.G1201G	DHX9_uc001gps.2_Silent_p.G987G|DHX9_uc001gpt.2_Silent_p.G480G|DHX9_uc009wyd.2_Silent_p.G166G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1201	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2																		---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183086546	183086546	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183086546C>T	uc001gpy.3	+	9	1913	c.1656C>T	c.(1654-1656)GAC>GAT	p.D552D		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	552	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183208692	183208692	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183208692T>C	uc001gqa.2	+	20	3377	c.3063T>C	c.(3061-3063)ATT>ATC	p.I1021I	LAMC2_uc001gpz.3_Silent_p.I1021I|LAMC2_uc010poa.1_Silent_p.I721I	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1021	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183506324	183506324	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183506324A>C	uc001gqg.2	+	11	1330	c.1208A>C	c.(1207-1209)CAT>CCT	p.H403P	SMG7_uc010pob.1_Missense_Mutation_p.H432P|SMG7_uc001gqf.2_Missense_Mutation_p.H403P|SMG7_uc001gqh.2_Missense_Mutation_p.H403P|SMG7_uc001gqi.2_Missense_Mutation_p.H361P|SMG7_uc010poc.1_Missense_Mutation_p.H361P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	403					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GLT25D2	23127	broad.mit.edu	37	1	183944246	183944246	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183944246C>A	uc001gqr.2	-	3	849	c.477G>T	c.(475-477)TGG>TGT	p.W159C	GLT25D2_uc010poj.1_Missense_Mutation_p.W159C|GLT25D2_uc001gqs.2_Missense_Mutation_p.W39C	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184663337	184663337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184663337G>A	uc010pok.1	-	20	2920	c.2659C>T	c.(2659-2661)CTT>TTT	p.L887F	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L903F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	887					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764990	184764990	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184764990T>C	uc001gra.2	-	14	2102	c.1908A>G	c.(1906-1908)AAA>AAG	p.K636K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	636					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184765096	184765096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184765096G>T	uc001gra.2	-	14	1996	c.1802C>A	c.(1801-1803)GCT>GAT	p.A601D	FAM129A_uc001grb.1_Missense_Mutation_p.A364D	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	601					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
C1orf25	81627	broad.mit.edu	37	1	185089303	185089303	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185089303A>T	uc001grf.3	-	15	2322	c.2050T>A	c.(2050-2052)TTT>ATT	p.F684I	C1orf25_uc010pon.1_Missense_Mutation_p.F528I	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	684						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0																		---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185276772	185276772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185276772G>T	uc001grl.2	-	6	1003	c.380C>A	c.(379-381)TCT>TAT	p.S127Y	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	127					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185970779	185970779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185970779C>A	uc001grq.1	+	28	4483	c.4254C>A	c.(4252-4254)CTC>CTA	p.L1418L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1418	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186055437	186055437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186055437A>G	uc001grq.1	+	58	9173	c.8944A>G	c.(8944-8946)ATC>GTC	p.I2982V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2982	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186114613	186114613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186114613G>A	uc001grq.1	+	92	14574	c.14345G>A	c.(14344-14346)CGC>CAC	p.R4782H	HMCN1_uc001grs.1_Missense_Mutation_p.R351H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4782	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186121905	186121905	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186121905A>G	uc001grq.1	+	96	15149	c.14920A>G	c.(14920-14922)ATT>GTT	p.I4974V	HMCN1_uc001grs.1_Missense_Mutation_p.I543V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4974	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147639	186147639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147639A>G	uc001grq.1	+	104	16264	c.16035A>G	c.(16033-16035)CAA>CAG	p.Q5345Q	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5345	EGF-like 6; calcium-binding (Potential).		Q -> R (in ARMD1).		response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147733	186147733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147733C>T	uc001grq.1	+	104	16358	c.16129C>T	c.(16129-16131)CCT>TCT	p.P5377S	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5377					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186151335	186151335	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186151335C>T	uc001grq.1	+	105	16559	c.16330C>T	c.(16330-16332)CAT>TAT	p.H5444Y	HMCN1_uc001grs.1_Missense_Mutation_p.H896Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5444	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186157083	186157083	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186157083A>C	uc001grq.1	+	106	16712	c.16483A>C	c.(16483-16485)AGC>CGC	p.S5495R	HMCN1_uc001grs.1_Missense_Mutation_p.S947R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5495					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186283791	186283791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186283791C>T	uc001grv.2	-	50	7303	c.7006G>A	c.(7006-7008)GTC>ATC	p.V2336I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2336					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186287715	186287715	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186287715T>C	uc001grv.2	-	48	6982	c.6685A>G	c.(6685-6687)ACC>GCC	p.T2229A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2229					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186291522	186291522	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186291522T>G	uc001grv.2	-	45	6686	c.6389A>C	c.(6388-6390)GAA>GCA	p.E2130A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2130					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186292976	186292976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186292976A>T	uc001grv.2	-	43	6436	c.6139T>A	c.(6139-6141)TCT>ACT	p.S2047T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2047					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186302287	186302287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186302287G>A	uc001grv.2	-	37	5719	c.5422C>T	c.(5422-5424)CGG>TGG	p.R1808W		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1808					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186304584	186304584	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186304584A>G	uc001grv.2	-	34	5094	c.4797T>C	c.(4795-4797)ATT>ATC	p.I1599I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1599	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186315342	186315342	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186315342C>A	uc001grv.2	-	23	3318	c.3021G>T	c.(3019-3021)AAG>AAT	p.K1007N		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1007	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186316487	186316487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186316487G>A	uc001grv.2	-	22	3177	c.2880C>T	c.(2878-2880)AGC>AGT	p.S960S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	960	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
C1orf27	54953	broad.mit.edu	37	1	186386684	186386684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186386684A>G	uc001grw.2	+	14	1431	c.1195A>G	c.(1195-1197)AGT>GGT	p.S399G	C1orf27_uc010poq.1_Missense_Mutation_p.S376G|C1orf27_uc010por.1_Missense_Mutation_p.S367G	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	399						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186915760	186915760	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186915760T>A	uc001gsc.2	+						PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734			cytosolic phospholipase A2, group IVA						phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186919835	186919835	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186919835T>C	uc001gsc.2	+	13	1516	c.1311T>C	c.(1309-1311)AGT>AGC	p.S437S	PLA2G4A_uc010pos.1_Silent_p.S377S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	437	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190067601	190067601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190067601G>A	uc001gse.1	-	8	2080	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	FAM5C_uc010pot.1_Silent_p.N514N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	616						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190129803	190129803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190129803T>C	uc001gse.1	-	7	1411	c.1179A>G	c.(1177-1179)AGA>AGG	p.R393R	FAM5C_uc010pot.1_Silent_p.R291R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	393						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190130020	190130020	+	Missense_Mutation	SNP	T	C	C	rs112829253		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190130020T>C	uc001gse.1	-	7	1194	c.962A>G	c.(961-963)GAT>GGT	p.D321G	FAM5C_uc010pot.1_Missense_Mutation_p.D219G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	321						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038252	193038252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193038252A>G	uc001gss.2	+	2	243	c.68A>G	c.(67-69)TAT>TGT	p.Y23C	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.Y23C|TROVE2_uc001gsw.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyp.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyq.2_Missense_Mutation_p.Y23C|TROVE2_uc001gsx.1_Missense_Mutation_p.Y23C	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	23	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0																		---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193094253	193094253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193094253A>G	uc001gtb.2	+	2	386	c.143A>G	c.(142-144)GAA>GGA	p.E48G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	48					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E48*(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49														Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196458960	196458960	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196458960T>A	uc001gtd.1	-						KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Intron|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905			potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196883700	196883700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196883700T>C	uc001gto.2	+	4	584	c.515T>C	c.(514-516)TTG>TCG	p.L172S	CFHR4_uc009wyy.2_Missense_Mutation_p.L418S|CFHR4_uc001gtp.2_Missense_Mutation_p.L419S	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	172	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197071893	197071893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197071893T>C	uc001gtu.2	-	18	6745	c.6488A>G	c.(6487-6489)TAC>TGC	p.Y2163C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2163					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197093357	197093357	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197093357A>G	uc001gtu.2	-	13	3530	c.3273T>C	c.(3271-3273)GAT>GAC	p.D1091D	ASPM_uc001gtv.2_Silent_p.D1091D|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1091					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197094055	197094055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197094055T>C	uc001gtu.2	-	12	3370	c.3113A>G	c.(3112-3114)GAT>GGT	p.D1038G	ASPM_uc001gtv.2_Missense_Mutation_p.D1038G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1038	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197097627	197097627	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197097627G>A	uc001gtu.2	-	10	3186	c.2929C>T	c.(2929-2931)CGC>TGC	p.R977C	ASPM_uc001gtv.2_Missense_Mutation_p.R977C|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	977	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197099091	197099091	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197099091T>C	uc001gtu.2	-	8	2840	c.2583A>G	c.(2581-2583)ATA>ATG	p.I861M	ASPM_uc001gtv.2_Missense_Mutation_p.I861M|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	861					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197111869	197111869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197111869T>C	uc001gtu.2	-	3	1770	c.1513A>G	c.(1513-1515)ACC>GCC	p.T505A	ASPM_uc001gtv.2_Missense_Mutation_p.T505A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	505					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197298145	197298145	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197298145C>T	uc001gtz.2	+						CRB1_uc010poz.1_Intron|CRB1_uc001gty.1_Intron|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Intron	NM_201253	NP_957705			crumbs homolog 1 precursor						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390140	197390140	+	Silent	SNP	C	T	T	rs115352681	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197390140C>T	uc001gtz.2	+	6	1317	c.1182C>T	c.(1180-1182)TGC>TGT	p.C394C	CRB1_uc010poz.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C282C|CRB1_uc010ppb.1_Silent_p.C394C|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.C43C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	394	Extracellular (Potential).|EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889141	197889141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889141G>A	uc001guk.1	+	2	651	c.214G>A	c.(214-216)GCC>ACC	p.A72T	LHX9_uc001gui.1_Missense_Mutation_p.A63T|LHX9_uc001guj.1_Missense_Mutation_p.A78T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	72	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889164	197889164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889164G>A	uc001guk.1	+	2	674	c.237G>A	c.(235-237)TCG>TCA	p.S79S	LHX9_uc001gui.1_Silent_p.S70S|LHX9_uc001guj.1_Silent_p.S85S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	79	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198288607	198288607	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198288607T>G	uc001gun.3	+	10	1191	c.864T>G	c.(862-864)GTT>GTG	p.V288V		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	288	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711080	198711080	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711080A>G	uc001gur.1	+	24	2660	c.2480A>G	c.(2479-2481)CAC>CGC	p.H827R	PTPRC_uc001gus.1_Missense_Mutation_p.H779R|PTPRC_uc001gut.1_Missense_Mutation_p.H666R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	827	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711111	198711111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711111T>C	uc001gur.1	+	24	2691	c.2511T>C	c.(2509-2511)AAT>AAC	p.N837N	PTPRC_uc001gus.1_Silent_p.N789N|PTPRC_uc001gut.1_Silent_p.N676N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	837	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200539049	200539049	+	Silent	SNP	T	A	A	rs150400242	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200539049T>A	uc010ppk.1	-	23	4090	c.3651A>T	c.(3649-3651)TCA>TCT	p.S1217S	KIF14_uc010ppj.1_Silent_p.S726S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1217	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200558367	200558367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200558367A>G	uc010ppk.1	-	18	3531	c.3092T>C	c.(3091-3093)ATG>ACG	p.M1031T	KIF14_uc010ppj.1_Missense_Mutation_p.M540T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1031	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880842	200880842	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200880842C>T	uc001gvo.2	+	9	1506	c.1476C>T	c.(1474-1476)CGC>CGT	p.R492R	C1orf106_uc010ppm.1_Silent_p.R407R	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	492										skin(2)|ovary(1)	3																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200968470	200968470	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200968470C>A	uc001gvs.1	-						KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron	NM_017596	NP_060066			kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200974805	200974805	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200974805G>T	uc001gvs.1	-	4	782	c.465C>A	c.(463-465)ATC>ATA	p.I155I	KIF21B_uc001gvr.1_Silent_p.I155I|KIF21B_uc009wzl.1_Silent_p.I155I|KIF21B_uc010ppn.1_Silent_p.I155I|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	155	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201036004	201036004	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201036004C>T	uc001gvv.2	-							NM_000069	NP_000060			calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201618328	201618328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201618328C>T	uc001gwu.2	+	1	879	c.532C>T	c.(532-534)CCC>TCC	p.P178S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	178					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843974	201843974	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201843974A>G	uc001gwz.2	+	22	2898	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	950					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201982112	201982112	+	Silent	SNP	C	T	T	rs148651345		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201982112C>T	uc001gxg.3	+	5	3828	c.636C>T	c.(634-636)TCC>TCT	p.S212S	ELF3_uc001gxi.3_Silent_p.S212S|ELF3_uc001gxh.3_Silent_p.S212S	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	212					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0																		---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097334	202097334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202097334G>A	uc001gxj.2	+	2	1159	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	366	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202287192	202287192	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202287192C>G	uc001gxu.2	+	18	1761	c.1761C>G	c.(1759-1761)TTC>TTG	p.F587L	LGR6_uc001gxv.2_Missense_Mutation_p.F535L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.F448L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	587	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10																		---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202396208	202396208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202396208T>A	uc001gya.1	+	5	886	c.742T>A	c.(742-744)TAT>AAT	p.Y248N	PPP1R12B_uc001gxy.2_Missense_Mutation_p.Y248N|PPP1R12B_uc009xad.1_Missense_Mutation_p.Y54N|PPP1R12B_uc009xae.1_Missense_Mutation_p.Y248N|PPP1R12B_uc001gxz.1_Missense_Mutation_p.Y248N	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	248					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202398034	202398034	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202398034T>C	uc001gya.1	+	6	1042	c.898T>C	c.(898-900)TTG>CTG	p.L300L	PPP1R12B_uc001gxy.2_Silent_p.L300L|PPP1R12B_uc009xad.1_Silent_p.L106L|PPP1R12B_uc009xae.1_Silent_p.L300L|PPP1R12B_uc001gxz.1_Silent_p.L300L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	300					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464568	202464568	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464568A>T	uc001gya.1	+	16	2437	c.2293A>T	c.(2293-2295)ACT>TCT	p.T765S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T765S|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	765					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464749	202464749	+	Missense_Mutation	SNP	G	A	A	rs3817221		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464749G>A	uc001gya.1	+	17	2531	c.2387G>A	c.(2386-2388)CGA>CAA	p.R796Q	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R796Q|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R22Q|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R22Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	796					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202880340	202880340	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202880340G>A	uc001gyo.1	-						KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Intron|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646			kelch-like 12						Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203033065	203033065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203033065G>A	uc001gyz.2	+	12	2059	c.1466G>A	c.(1465-1467)CGC>CAC	p.R489H	PPFIA4_uc009xaj.2_Missense_Mutation_p.R1120H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R702H|PPFIA4_uc001gza.2_Missense_Mutation_p.R480H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R175H|PPFIA4_uc001gzc.1_Missense_Mutation_p.R31H	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	489	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---
MYBPH	4608	broad.mit.edu	37	1	203139459	203139459	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203139459C>T	uc001gzh.1	-	7	1112	c.1053G>A	c.(1051-1053)TCG>TCA	p.S351S	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	351	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)														---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203186215	203186215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203186215T>G	uc001gzn.2	-	11	1299	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.K163N|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.K392N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	401					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203468795	203468795	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203468795A>T	uc001gzu.1	+	5	664	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	183	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203698783	203698783	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203698783C>T	uc001gzw.2	+						ATP2B4_uc001gzv.2_Intron|ATP2B4_uc009xaq.2_Intron|ATP2B4_uc001gzx.2_Intron|ATP2B4_uc009xar.2_Intron|SNORA77_uc001gzy.1_RNA	NM_001684	NP_001675			plasma membrane calcium ATPase 4 isoform 4b						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203820223	203820223	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203820223T>C	uc001hac.2	+	19	2761	c.2145T>C	c.(2143-2145)ACT>ACC	p.T715T	ZC3H11A_uc001had.2_Silent_p.T715T|ZC3H11A_uc001hae.2_Silent_p.T715T|ZC3H11A_uc001haf.2_Silent_p.T715T|ZC3H11A_uc010pqm.1_Silent_p.T661T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	715							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204083710	204083710	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204083710C>A	uc001ham.2	+	4	990	c.395C>A	c.(394-396)TCT>TAT	p.S132Y	SOX13_uc001hal.2_Missense_Mutation_p.S132Y|SOX13_uc010pqp.1_Missense_Mutation_p.S132Y|SOX13_uc010pqq.1_5'Flank	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	132					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204115797G>A	uc001hao.3	-	3	941	c.614C>T	c.(613-615)ACG>ATG	p.T205M	ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204216588	204216588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204216588C>T	uc001hau.2	-	13	2142	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	609										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204217956	204217956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204217956G>A	uc001hau.2	-	12	2134	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	606								p.A606V(1)		ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204234146	204234146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204234146C>T	uc001hau.2	-	6	622	c.305G>A	c.(304-306)GGC>GAC	p.G102D		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	102	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379416	204379416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204379416G>A	uc001hav.3	-	1	1529	c.1124C>T	c.(1123-1125)GCT>GTT	p.A375V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	375					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)															---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204401362	204401362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204401362C>T	uc001haw.2	-	28	4600	c.4121G>A	c.(4120-4122)CGC>CAC	p.R1374H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1346H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1374	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)													OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587072	204587072	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204587072A>G	uc001hbe.1	-	3	2437	c.2049T>C	c.(2047-2049)TCT>TCC	p.S683S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S683S|LRRN2_uc009xbf.1_Silent_p.S683S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	683	Cytoplasmic (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588100	204588100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588100T>C	uc001hbe.1	-	3	1409	c.1021A>G	c.(1021-1023)ATG>GTG	p.M341V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.M341V|LRRN2_uc009xbf.1_Missense_Mutation_p.M341V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	341	Extracellular (Potential).|LRR 12.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588840	204588840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588840T>C	uc001hbe.1	-	3	669	c.281A>G	c.(280-282)AAT>AGT	p.N94S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N94S|LRRN2_uc009xbf.1_Missense_Mutation_p.N94S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	94	LRR 2.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588931	204588931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588931G>A	uc001hbe.1	-	3	578	c.190C>T	c.(190-192)CCC>TCC	p.P64S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P64S|LRRN2_uc009xbf.1_Missense_Mutation_p.P64S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	64	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204923419G>A	uc001hbj.2	+	6	647	c.319G>A	c.(319-321)GGG>AGG	p.G107R	NFASC_uc001hbh.2_Missense_Mutation_p.G107R|NFASC_uc010pqz.1_Missense_Mutation_p.G101R|NFASC_uc010pra.1_Missense_Mutation_p.G101R|NFASC_uc001hbi.2_Missense_Mutation_p.G101R|NFASC_uc009xbg.1_Missense_Mutation_p.G174R|NFASC_uc010prb.1_Missense_Mutation_p.G101R|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204926830	204926830	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204926830C>T	uc001hbj.2	+	8	910	c.582C>T	c.(580-582)AAC>AAT	p.N194N	NFASC_uc001hbh.2_Silent_p.N194N|NFASC_uc010pqz.1_Silent_p.N188N|NFASC_uc010pra.1_Silent_p.N188N|NFASC_uc001hbi.2_Silent_p.N188N|NFASC_uc009xbg.1_Silent_p.N261N|NFASC_uc010prb.1_Silent_p.N188N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Silent_p.N15N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	194	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033516	205033516	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205033516T>A	uc001hbr.2	+	11	1576	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	CNTN2_uc001hbq.1_Missense_Mutation_p.I327N|CNTN2_uc001hbs.2_Missense_Mutation_p.I224N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205241020	205241020	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205241020G>T	uc001hbz.1	+	6	2342	c.1898G>T	c.(1897-1899)GGC>GTC	p.G633V	TMCC2_uc010prf.1_Missense_Mutation_p.G555V|TMCC2_uc001hca.2_Missense_Mutation_p.G408V|TMCC2_uc001hcb.1_Missense_Mutation_p.G393V|TMCC2_uc001hcc.1_Missense_Mutation_p.G254V|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	633	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388445	205388445	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388445G>T	uc001hcj.1	-	3	220	c.118C>A	c.(118-120)CAG>AAG	p.Q40K	LEMD1_uc001hci.1_Missense_Mutation_p.Q40K|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	40	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388453	205388453	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388453T>C	uc001hcj.1	-	3	212	c.110A>G	c.(109-111)AAG>AGG	p.K37R	LEMD1_uc001hci.1_Missense_Mutation_p.K37R|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205496974	205496974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205496974T>C	uc001hcr.2	+	9	1091	c.872T>C	c.(871-873)ATC>ACC	p.I291T	CDK18_uc001hcp.2_Missense_Mutation_p.I261T|CDK18_uc001hcq.2_Missense_Mutation_p.I261T|CDK18_uc010prj.1_Missense_Mutation_p.I172T|CDK18_uc001hcs.2_Missense_Mutation_p.I172T|CDK18_uc009xbm.1_Missense_Mutation_p.I186T|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	259	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2																		---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205561362	205561362	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205561362G>A	uc001hcv.3	+	7	1330	c.1244G>A	c.(1243-1245)AGC>AAC	p.S415N	MFSD4_uc010prk.1_Missense_Mutation_p.S328N|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S360N|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	415	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)													OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205568338	205568338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205568338T>C	uc001hcv.3	+	9	1534	c.1448T>C	c.(1447-1449)TTG>TCG	p.L483S	MFSD4_uc010prk.1_Missense_Mutation_p.L396S|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.L428S|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	483	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)															---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205633776	205633776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205633776C>A	uc001hda.1	-	2	348	c.9G>T	c.(7-9)CAG>CAT	p.Q3H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	3					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)					T	ETV1|ETV5|ELK4|ERG	prostate 								---	---	---	---
NUCKS1	64710	broad.mit.edu	37	1	205689743	205689743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205689743G>A	uc001hdb.2	-	5	528	c.268C>T	c.(268-270)CGC>TGC	p.R90C		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	90						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)															---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224429	206224429	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206224429C>T	uc001hds.2	+	1						NM_000707	NP_000698			arginine vasopressin receptor 1B						activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206331109	206331109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206331109A>G	uc001hdu.2	+	9	1233	c.1115A>G	c.(1114-1116)GAT>GGT	p.D372G	CTSE_uc001hdv.2_Missense_Mutation_p.M325V|CTSE_uc010prs.1_Missense_Mutation_p.M250V	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)															---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206611397	206611397	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206611397G>A	uc001hdy.2	+	13	1789	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	SRGAP2_uc010prt.1_Missense_Mutation_p.E409K|SRGAP2_uc001hdx.2_Missense_Mutation_p.E486K|SRGAP2_uc010pru.1_Missense_Mutation_p.E409K|SRGAP2_uc010prv.1_Missense_Mutation_p.E410K	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	573	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)																	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206664989	206664989	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206664989T>A	uc001hdz.1	+	18	2110	c.1742T>A	c.(1741-1743)TTC>TAC	p.F581Y	IKBKE_uc009xbv.1_Missense_Mutation_p.F581Y|IKBKE_uc001hea.1_Missense_Mutation_p.F496Y	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	581					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)																	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207196834	207196834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207196834G>A	uc001hfd.2	-						C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427			specifically androgen-regulated protein isoform							cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)																	---	---	---	---
YOD1	55432	broad.mit.edu	37	1	207222646	207222646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207222646T>C	uc001hfe.1	-	2	813	c.766A>G	c.(766-768)ACC>GCC	p.T256A	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.T212A	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	256	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)																	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207753708	207753708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207753708C>T	uc001hfy.2	+	22	3850	c.3710C>T	c.(3709-3711)TCT>TTT	p.S1237F	CR1_uc009xcl.1_Missense_Mutation_p.S787F|CR1_uc001hfx.2_Missense_Mutation_p.S1687F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1237	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---
CD46	4179	broad.mit.edu	37	1	207963659	207963659	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207963659A>C	uc001hgc.2	+	13					CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_3'UTR|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_3'UTR|CD46_uc001hgj.2_Intron|CD46_uc001hgk.2_3'UTR|CD46_uc001hgl.2_3'UTR|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_3'UTR|CD46_uc001hgo.2_Intron|CD46_uc001hgp.2_Intron	NM_002389	NP_002380			CD46 antigen, complement regulatory protein						complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4																		---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208257862	208257862	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208257862T>C	uc001hgz.2	-	10	2919	c.2161A>G	c.(2161-2163)ACC>GCC	p.T721A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	721	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209799327	209799327	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209799327T>A	uc001hhg.2	-	13	2032	c.1642A>T	c.(1642-1644)AAG>TAG	p.K548*	LAMB3_uc009xco.2_Nonsense_Mutation_p.K548*|LAMB3_uc001hhh.2_Nonsense_Mutation_p.K548*|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	548	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)														---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210637971	210637971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210637971A>G	uc009xcx.2	+	8	1145	c.979A>G	c.(979-981)ACC>GCC	p.T327A	HHAT_uc010psq.1_Missense_Mutation_p.T190A|HHAT_uc001hhz.3_Missense_Mutation_p.T327A|HHAT_uc010psr.1_Missense_Mutation_p.T328A|HHAT_uc010pss.1_Missense_Mutation_p.T282A|HHAT_uc009xcy.2_Missense_Mutation_p.T262A|HHAT_uc010pst.1_Missense_Mutation_p.T264A|HHAT_uc010psu.1_Missense_Mutation_p.T262A|HHAT_uc001hia.3_Missense_Mutation_p.T17A	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	327					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)														---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211451523	211451523	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:211451523G>T	uc001hig.2	+	5	576	c.407G>T	c.(406-408)AGG>ATG	p.R136M	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R194M|RCOR3_uc010psw.1_Missense_Mutation_p.R194M|RCOR3_uc001hif.2_Missense_Mutation_p.R194M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)														---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212560349	212560349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212560349A>G	uc001hjc.3	-	3	395	c.227T>C	c.(226-228)CTG>CCG	p.L76P	TMEM206_uc010pte.1_Missense_Mutation_p.L137P	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	76	Helical; (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)														---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799538	212799538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212799538G>A	uc001hjk.2	+	1	1723	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	440										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213302945	213302945	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213302945C>A	uc010ptr.1	+	6	707	c.548C>A	c.(547-549)GCT>GAT	p.A183D	RPS6KC1_uc001hkd.2_Missense_Mutation_p.A171D|RPS6KC1_uc010pts.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptt.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptu.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.A2D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	183					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214557227C>T	uc001hkk.1	-	13	2242	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	PTPN14_uc010pty.1_Silent_p.T558T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214813868	214813868	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214813868T>C	uc001hkm.2	+	12	2361	c.2187T>C	c.(2185-2187)ACT>ACC	p.T729T		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	729	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214816273	214816273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214816273T>C	uc001hkm.2	+	12	4766	c.4592T>C	c.(4591-4593)CTG>CCG	p.L1531P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1627					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214826425	214826425	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214826425T>C	uc001hkm.2	+							NM_016343	NP_057427			centromere protein F						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
KCNK2	3776	broad.mit.edu	37	1	215342543	215342543	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215342543A>T	uc001hkq.2	+	4	646	c.477A>T	c.(475-477)GGA>GGT	p.G159G	KCNK2_uc001hko.2_Silent_p.G155G|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.G144G	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	159							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)													---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215751371	215751371	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215751371T>C	uc001hks.2	+	6	638	c.344T>C	c.(343-345)TTG>TCG	p.L115S	KCTD3_uc001hkt.2_Missense_Mutation_p.L115S|KCTD3_uc010pub.1_Missense_Mutation_p.L13S|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	115						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215901647	215901647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215901647T>C	uc001hku.1	-	61	12178	c.11791A>G	c.(11791-11793)ACC>GCC	p.T3931A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3931	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216073503	216073503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216073503T>C	uc001hku.1	-	40	7895	c.7508A>G	c.(7507-7509)TAC>TGC	p.Y2503C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2503	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216262383	216262383	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216262383G>A	uc001hku.1	-	23	5244	c.4857C>T	c.(4855-4857)GGC>GGT	p.G1619G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1619	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216369957	216369957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216369957A>G	uc001hku.1	-	19	4576	c.4189T>C	c.(4189-4191)TAT>CAT	p.Y1397H	USH2A_uc001hkv.2_Missense_Mutation_p.Y1397H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1397	Extracellular (Potential).|Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216371840	216371840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216371840T>C	uc001hku.1	-	18	4285	c.3898A>G	c.(3898-3900)AGT>GGT	p.S1300G	USH2A_uc001hkv.2_Missense_Mutation_p.S1300G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1300	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217793422	217793422	+	Missense_Mutation	SNP	C	T	T	rs150988724	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217793422C>T	uc001hlf.1	-	2	572	c.476G>A	c.(475-477)CGC>CAC	p.R159H	GPATCH2_uc001hlg.3_Missense_Mutation_p.R159H	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)														---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217856611	217856611	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217856611A>T	uc001hlh.1	+	5	329	c.303A>T	c.(301-303)CGA>CGT	p.R101R	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.R101R	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	101	IQ 3.					cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)														---	---	---	---
SLC30A10	55532	broad.mit.edu	37	1	220100394	220100394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220100394T>C	uc001hlw.2	-	2	905	c.694A>G	c.(694-696)AAG>GAG	p.K232E	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_Missense_Mutation_p.K7E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	232	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)														---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220193341	220193341	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220193341T>C	uc001hly.1	-	10	1608	c.1338A>G	c.(1336-1338)CTA>CTG	p.L446L	EPRS_uc010puf.1_Silent_p.L197L|EPRS_uc001hlz.1_Silent_p.L446L|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	446	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220203728	220203728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220203728C>T	uc001hly.1	-	6	893	c.623G>A	c.(622-624)GGT>GAT	p.G208D	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.G208D|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	208	"Glutamyl-tRNA synthetase.|""HIGH"" region."				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220275602	220275602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220275602T>C	uc001hmc.2	+	4	786	c.682T>C	c.(682-684)TAC>CAC	p.Y228H		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	228					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220315249	220315249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220315249A>G	uc001hmc.2	+	20	2623	c.2519A>G	c.(2518-2520)CAC>CGC	p.H840R	IARS2_uc001hmd.2_Missense_Mutation_p.H176R	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	840					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324707	220324707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324707T>C	uc010puk.1	-	35	4232	c.4068A>G	c.(4066-4068)ACA>ACG	p.T1356T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.T936T|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1356					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220325021	220325021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220325021T>C	uc010puk.1	-	34	4117	c.3953A>G	c.(3952-3954)CAC>CGC	p.H1318R	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.H898R|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.H262R	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1318					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053336	221053336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221053336T>C	uc001hmv.3	+	1	594	c.137T>C	c.(136-138)ATC>ACC	p.I46T		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	46					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221879722	221879722	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221879722C>T	uc001hmy.1	-	3	1080	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	300					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912385	221912385	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221912385T>C	uc001hmy.1	-	2	884	c.702A>G	c.(700-702)ATA>ATG	p.I234M	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	234	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717326	222717326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222717326T>C	uc001hnh.1	-	2	585	c.527A>G	c.(526-528)GAC>GGC	p.D176G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	176					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)														---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)														---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223971921	223971921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223971921C>A	uc010pvb.1	-	17	3551	c.3259G>T	c.(3259-3261)GGA>TGA	p.G1087*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.G958*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.G320*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.G726*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1081	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---
FBXO28	23219	broad.mit.edu	37	1	224340859	224340859	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224340859T>C	uc001hoh.2	+	4	573	c.532T>C	c.(532-534)TAT>CAT	p.Y178H	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	178										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)														---	---	---	---
CNIH4	29097	broad.mit.edu	37	1	224559058	224559058	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224559058T>C	uc001hom.1	+	4	357	c.325T>C	c.(325-327)TCA>CCA	p.S109P	CNIH4_uc001hon.1_Intron	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	cornichon homolog 4	109					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.00341)														---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224599216	224599216	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224599216T>C	uc001hop.3	-	7	996	c.630A>G	c.(628-630)GAA>GAG	p.E210E	WDR26_uc001hoq.3_Silent_p.E194E|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	357	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)														---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224804931	224804931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224804931G>A	uc001hos.1	+	1	753	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	19	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)														---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226030158	226030158	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226030158G>T	uc001hpk.2	+	7	1103	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	EPHX1_uc001hpl.2_Missense_Mutation_p.E341D	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	341					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)																	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550840	226550840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226550840T>C	uc001hqd.3	-	21	2979	c.2808A>G	c.(2806-2808)TCA>TCG	p.S936S		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	936	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
PARP1	142	broad.mit.edu	37	1	226578278	226578278	+	Silent	SNP	C	T	T	rs142376976		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226578278C>T	uc001hqd.3	-	4	621	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	150	PARP-type 2.|				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
CABC1	56997	broad.mit.edu	37	1	227152890	227152890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227152890G>A	uc001hqm.1	+	8	3786	c.367G>A	c.(367-369)GGA>AGA	p.G123R	CABC1_uc010pvp.1_Missense_Mutation_p.G86R|CABC1_uc001hqn.1_Missense_Mutation_p.G123R|CABC1_uc009xeq.1_Missense_Mutation_p.G71R|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	123					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)																---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227227828	227227828	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227227828T>C	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
ZNF678	339500	broad.mit.edu	37	1	227843127	227843127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227843127T>C	uc001hqw.1	+	4	1521	c.1176T>C	c.(1174-1176)CTT>CTC	p.L392L	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)																---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227935786	227935786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227935786A>G	uc001hrf.2	+	2	898	c.484A>G	c.(484-486)ACC>GCC	p.T162A	SNAP47_uc001hqz.2_Missense_Mutation_p.T117A|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.T162A|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.T117A	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	162	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1																		---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228334650	228334650	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228334650C>T	uc001hsh.2	+						GUK1_uc001hsi.2_Intron|GUK1_uc001hsj.2_Intron|GUK1_uc010pvv.1_Intron|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849			guanylate kinase 1 isoform b						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---
C1orf69	200205	broad.mit.edu	37	1	228362488	228362488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228362488G>A	uc001hsl.3	+	2	526	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	146					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228431128	228431128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228431128C>T	uc009xez.1	+	10	3218	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	OBSCN_uc001hsn.2_Silent_p.G1058G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1058	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468349	228468349	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228468349C>T	uc009xez.1	+	30	8093	c.8049C>T	c.(8047-8049)GGC>GGT	p.G2683G	OBSCN_uc001hsn.2_Silent_p.G2683G|OBSCN_uc001hsp.1_Silent_p.G382G|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2683	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476538	228476538	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476538T>C	uc009xez.1	+	38	10332	c.10288T>C	c.(10288-10290)TAC>CAC	p.Y3430H	OBSCN_uc001hsn.2_Missense_Mutation_p.Y3430H|OBSCN_uc001hsq.1_Missense_Mutation_p.Y686H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3430	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476571	228476571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476571G>A	uc009xez.1	+	38	10365	c.10321G>A	c.(10321-10323)GCC>ACC	p.A3441T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3441T|OBSCN_uc001hsq.1_Missense_Mutation_p.A697T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3441	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228482590	228482590	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228482590G>T	uc009xez.1	+	43	11549	c.11505G>T	c.(11503-11505)AAG>AAT	p.K3835N	OBSCN_uc001hsn.2_Missense_Mutation_p.K3835N|OBSCN_uc001hsq.1_Missense_Mutation_p.K1091N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3835	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228523973	228523973	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228523973T>C	uc009xez.1	+	64	16581	c.16537_splice	c.e64+2	p.E5513_splice	OBSCN_uc001hsn.2_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice	NM_001098623	NP_001092093			obscurin, cytoskeletal calmodulin and						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228524766	228524766	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228524766G>T	uc009xez.1	+	65	16643	c.16599G>T	c.(16597-16599)GAG>GAT	p.E5533D	OBSCN_uc001hsn.2_Missense_Mutation_p.E5533D|OBSCN_uc001hsr.1_Missense_Mutation_p.E161D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5533					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228879123	228879123	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228879123A>C	uc001htf.2	+	3	1034	c.413A>C	c.(412-414)AAC>ACC	p.N138T		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	138					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229666069	229666069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229666069G>A	uc001htp.3	-	8	1565	c.1522C>T	c.(1522-1524)CCC>TCC	p.P508S		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	508	Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229683280	229683280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229683280G>A	uc001htp.3	-	3	930	c.887C>T	c.(886-888)GCC>GTC	p.A296V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	296	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230381798	230381798	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230381798T>C	uc010pwa.1	+						GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472			polypeptide N-acetylgalactosaminyltransferase 2						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)																---	---	---	---
PGBD5	79605	broad.mit.edu	37	1	230492723	230492723	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230492723T>C	uc010pwb.1	-	2	469	c.469A>G	c.(469-471)ACG>GCG	p.T157A	PGBD5_uc001htv.2_Missense_Mutation_p.T256A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	157						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)														---	---	---	---
COG2	22796	broad.mit.edu	37	1	230810880	230810880	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230810880C>T	uc001htw.2	+						COG2_uc001htx.2_Intron|COG2_uc010pwc.1_Intron	NM_007357	NP_031383			component of oligomeric golgi complex 2 isoform						Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
COG2	22796	broad.mit.edu	37	1	230814715	230814715	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230814715G>T	uc001htw.2	+	10	1234	c.1083G>T	c.(1081-1083)CAG>CAT	p.Q361H	COG2_uc001htx.2_Missense_Mutation_p.Q361H|COG2_uc010pwc.1_Missense_Mutation_p.Q234H	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	361					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979489	230979489	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979489C>A	uc001hub.2	-	3	582	c.538G>T	c.(538-540)GGC>TGC	p.G180C	C1orf198_uc009xfh.1_Missense_Mutation_p.G50C|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G142C	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	180											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979510	230979510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979510A>G	uc001hub.2	-	3	561	c.517T>C	c.(517-519)TCC>CCC	p.S173P	C1orf198_uc009xfh.1_Missense_Mutation_p.S43P|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.S135P	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	173											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231337179	231337179	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231337179T>A	uc009xfn.1	+	5	1492	c.1450T>A	c.(1450-1452)TCT>ACT	p.S484T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	484	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)																---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231364893	231364893	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231364893T>C	uc001hun.1	-						C1orf131_uc001hul.2_Intron|C1orf131_uc001hum.2_Intron|C1orf131_uc010pwd.1_Intron	NM_152379	NP_689592			hypothetical protein LOC128061											central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)																---	---	---	---
EGLN1	54583	broad.mit.edu	37	1	231556926	231556926	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231556926C>T	uc001huv.2	-	1	3865	c.709G>A	c.(709-711)GAC>AAC	p.D237N	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	237					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)													---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231906664	231906664	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231906664G>A	uc001huz.2	+	6	1535	c.1482G>A	c.(1480-1482)GAG>GAA	p.E494E	TSNAX-DISC1_uc010pwg.1_Silent_p.E483E|TSNAX-DISC1_uc010pwh.1_Silent_p.E449E|TSNAX-DISC1_uc010pwi.1_Silent_p.E449E|TSNAX-DISC1_uc010pwj.1_Silent_p.E483E|TSNAX-DISC1_uc010pwk.1_Silent_p.E483E|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.E494E|DISC1_uc010pwr.1_Silent_p.E494E|DISC1_uc010pws.1_Silent_p.E494E|DISC1_uc010pwt.1_Silent_p.E494E|DISC1_uc010pwu.1_Silent_p.E144E|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.E494E|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.E494E|DISC1_uc010pxb.1_Silent_p.E494E|DISC1_uc010pxc.1_Silent_p.E494E|DISC1_uc010pxd.1_Silent_p.E139E|DISC1_uc010pxe.1_Silent_p.E494E|DISC1_uc009xfr.2_Silent_p.E449E|DISC1_uc010pxf.1_Silent_p.E494E|DISC1_uc010pxg.1_Silent_p.E494E|DISC1_uc010pxh.1_Silent_p.E526E|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.E139E|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.E139E|DISC1_uc001hva.2_Silent_p.E494E	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	494	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232539873	232539873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232539873A>G	uc001hvg.2	-	18	4972	c.4814T>C	c.(4813-4815)CTA>CCA	p.L1605P	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1605					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232601173	232601173	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232601173A>G	uc001hvg.2	-							NM_020808	NP_065859			signal-induced proliferation-associated 1 like						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
KIAA1383	54627	broad.mit.edu	37	1	232942838	232942838	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232942838C>A	uc001hvh.2	+	1	2201	c.2069C>A	c.(2068-2070)TCT>TAT	p.S690Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	548										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)																---	---	---	---
C1orf57	84284	broad.mit.edu	37	1	233091413	233091413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233091413G>T	uc001hvj.1	+	2	232	c.145G>T	c.(145-147)GGA>TGA	p.G49*	C1orf57_uc001hvi.2_Nonsense_Mutation_p.G49*|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	49							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)																---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345219	235345219	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235345219A>C	uc001hwq.2	-	20	3513	c.3015T>G	c.(3013-3015)AAT>AAG	p.N1005K	ARID4B_uc001hwr.2_Missense_Mutation_p.N919K|ARID4B_uc001hws.3_Missense_Mutation_p.N919K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.N686K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377281	235377281	+	Silent	SNP	C	T	T	rs113894806		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377332	235377332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377332C>T	uc001hwq.2	-	17	2091	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.T212T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	531	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235920623G>A	uc001hxj.2	-	24	7192	c.7017C>T	c.(7015-7017)CTC>CTT	p.L2339L		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
LYST	1130	broad.mit.edu	37	1	235922861	235922861	+	Missense_Mutation	SNP	C	T	T	rs146091043	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235922861C>T	uc001hxj.2	-	23	6467	c.6292G>A	c.(6292-6294)GCC>ACC	p.A2098T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2098					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189447	236189447	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189447G>A	uc001hxo.2	-						NID1_uc009xgd.2_Intron	NM_002508	NP_002499			nidogen 1 precursor						cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236738141	236738141	+	Silent	SNP	G	T	T	rs138699782	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236738141G>T	uc001hyd.1	-	23	3272	c.3147C>A	c.(3145-3147)CCC>CCA	p.P1049P	HEATR1_uc009xgh.1_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1049					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236920856	236920856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236920856T>C	uc001hyf.2	+	18	2429	c.2225T>C	c.(2224-2226)ATC>ACC	p.I742T	ACTN2_uc001hyg.2_Missense_Mutation_p.I534T|ACTN2_uc009xgi.1_Missense_Mutation_p.I742T|ACTN2_uc010pxu.1_Missense_Mutation_p.I431T|ACTN2_uc001hyh.2_Missense_Mutation_p.I430T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	742					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
MTR	4548	broad.mit.edu	37	1	237001790	237001790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237001790T>C	uc001hyi.3	+	15	1829	c.1406T>C	c.(1405-1407)GTC>GCC	p.V469A	MTR_uc010pxw.1_Missense_Mutation_p.V62A|MTR_uc010pxx.1_Missense_Mutation_p.V469A|MTR_uc010pxy.1_Missense_Mutation_p.V469A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	469	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237049633	237049633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237049633T>C	uc001hyi.3	+	27	3240	c.2817T>C	c.(2815-2817)GGT>GGC	p.G939G	MTR_uc010pxw.1_Silent_p.G532G|MTR_uc010pxx.1_Silent_p.G888G|MTR_uc010pxy.1_Silent_p.G793G	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	939	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237057735	237057735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237057735G>A	uc001hyi.3	+	30	3706	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N	MTR_uc010pxw.1_Missense_Mutation_p.D688N|MTR_uc010pxx.1_Missense_Mutation_p.D1044N|MTR_uc010pxy.1_Missense_Mutation_p.D949N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1095	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237608788	237608788	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237608788C>T	uc001hyl.1	+	14	1378	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237660039	237660039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237660039T>C	uc001hyl.1	+	20	2310	c.2190T>C	c.(2188-2190)CTT>CTC	p.L730L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	730	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237923159	237923159	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237923159A>G	uc001hyl.1	+						RYR2_uc010pya.1_Intron	NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238048462	238048462	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238048462T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238051650	238051650	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238051650T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072456	240072456	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240072456C>T	uc001hyp.2	+	5	2484	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	569	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)													---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256747	240256747	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240256747G>A	uc010pyd.1	+	1	1563	c.1338G>A	c.(1336-1338)CGG>CGA	p.R446R	FMN2_uc010pye.1_Silent_p.R446R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	446					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497204	240497204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240497204T>C	uc010pyd.1	+	12	4827	c.4602T>C	c.(4600-4602)CTT>CTC	p.L1534L	FMN2_uc010pye.1_Silent_p.L1538L|FMN2_uc010pyf.1_Silent_p.L180L|FMN2_uc010pyg.1_Silent_p.L130L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1534	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656448	240656448	+	Missense_Mutation	SNP	C	T	T	rs146387570		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656448C>T	uc001hys.2	-	2	608	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	110	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798852	241798852	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241798852T>A	uc001hzd.2	-	1	381	c.217A>T	c.(217-219)ACT>TCT	p.T73S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	73					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)															---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242020693	242020693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242020693C>T	uc001hzh.2	+	7	992	c.452C>T	c.(451-453)GCT>GTT	p.A151V	EXO1_uc001hzi.2_Missense_Mutation_p.A151V|EXO1_uc001hzj.2_Missense_Mutation_p.A151V|EXO1_uc009xgq.2_Missense_Mutation_p.A151V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	151	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242052913	242052913	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052913C>T	uc001hzh.2	+	16					EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_3'UTR|EXO1_uc009xgq.2_3'UTR	NM_130398	NP_569082			exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243727145	243727145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243727145C>T	uc001iab.1	-	9	906	c.825G>A	c.(823-825)GAG>GAA	p.E275E	AKT3_uc001hzz.1_Silent_p.E275E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	275	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217659C>T	uc001iae.2	+	1	1078	c.556C>T	c.(556-558)CGA>TGA	p.R186*	ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217906	244217906	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217906A>T	uc001iae.2	+	1	1325	c.803A>T	c.(802-804)AAC>ATC	p.N268I	ZNF238_uc001iad.3_Missense_Mutation_p.N277I|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	268					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ADSS	159	broad.mit.edu	37	1	244574657	244574657	+	Missense_Mutation	SNP	G	A	A	rs150012791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244574657G>A	uc001iaj.2	-	12	1544	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
ADSS	159	broad.mit.edu	37	1	244595888	244595888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244595888C>T	uc001iaj.2	-	4	659	c.365G>A	c.(364-366)GGC>GAC	p.G122D	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244756860	244756860	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244756860G>A	uc001iam.2	+	17	2342	c.2283G>A	c.(2281-2283)AAG>AAA	p.K761K	C1orf101_uc001iak.1_Silent_p.K315K|C1orf101_uc001ial.2_Silent_p.K761K|C1orf101_uc010pym.1_Silent_p.K610K|C1orf101_uc010pyn.1_Silent_p.K694K	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	761	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245017773	245017773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245017773A>G	uc001iaz.1	-	14	2675	c.2457T>C	c.(2455-2457)CAT>CAC	p.H819H	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.H543H|HNRNPU_uc001iba.1_Silent_p.H800H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	819	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245019225	245019225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245019225A>G	uc001iaz.1	-	11	2366	c.2148T>C	c.(2146-2148)GGT>GGC	p.G716G	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G440G|HNRNPU_uc001iba.1_Silent_p.G697G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	716	RNA-binding RGG-box.|Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245765975	245765975	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245765975T>C	uc001ibf.1	+	6	1887	c.1447T>C	c.(1447-1449)TTG>CTG	p.L483L	KIF26B_uc010pyq.1_Silent_p.L483L|KIF26B_uc001ibg.1_Silent_p.L101L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	483	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245770996	245770996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245770996T>C	uc001ibf.1	+	7	2041	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	KIF26B_uc010pyq.1_Missense_Mutation_p.V534A|KIF26B_uc001ibg.1_Missense_Mutation_p.V152A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	534	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849553	245849553	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245849553A>G	uc001ibf.1	+	12	3708	c.3268A>G	c.(3268-3270)AAA>GAA	p.K1090E	KIF26B_uc001ibg.1_Missense_Mutation_p.K708E|KIF26B_uc001ibh.1_Missense_Mutation_p.K332E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1090					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850411	245850411	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245850411G>A	uc001ibf.1	+	12	4566	c.4126G>A	c.(4126-4128)GCC>ACC	p.A1376T	KIF26B_uc001ibg.1_Missense_Mutation_p.A994T|KIF26B_uc001ibh.1_Missense_Mutation_p.A618T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1376					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246027162	246027162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246027162C>T	uc001ibl.2	-	9	935	c.840G>A	c.(838-840)GAG>GAA	p.E280E	SMYD3_uc001ibk.2_Silent_p.E221E|SMYD3_uc001ibi.2_Silent_p.E91E|SMYD3_uc001ibj.2_Silent_p.E91E	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	280						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246078843	246078843	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246078843T>C	uc001ibl.2	-	8	897	c.802A>G	c.(802-804)ACC>GCC	p.T268A	SMYD3_uc001ibk.2_Missense_Mutation_p.T209A|SMYD3_uc001ibi.2_Missense_Mutation_p.T79A|SMYD3_uc001ibj.2_Missense_Mutation_p.T79A	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	268						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
CNST	163882	broad.mit.edu	37	1	246795222	246795222	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246795222G>T	uc001ibp.2	+	4	990	c.612G>T	c.(610-612)GAG>GAT	p.E204D	CNST_uc001ibo.3_Missense_Mutation_p.E204D	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	204					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0																		---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247014121	247014121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247014121G>A	uc001ibu.1	-	32	5194	c.5187C>T	c.(5185-5187)AGC>AGT	p.S1729S	AHCTF1_uc001ibv.1_Silent_p.S1738S|AHCTF1_uc009xgs.1_Silent_p.S590S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1729	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247071023	247071023	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247071023T>C	uc001ibu.1	-	4	601	c.594A>G	c.(592-594)CCA>CCG	p.P198P	AHCTF1_uc001ibv.1_Silent_p.P207P	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	198	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151044	247151044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151044A>G	uc009xgu.2	-	4	918	c.773T>C	c.(772-774)GTT>GCT	p.V258A	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	258	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151183	247151183	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151183A>G	uc009xgu.2	-	4	779	c.634T>C	c.(634-636)TAC>CAC	p.Y212H	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	212	C2H2-type 3; atypical.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF669	79862	broad.mit.edu	37	1	247264102	247264102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247264102C>T	uc001ice.2	-	4	1142	c.969G>A	c.(967-969)ACG>ACA	p.T323T	ZNF669_uc001icf.2_Silent_p.T237T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	323	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875672	247875672	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875672G>A	uc001idj.1	-	1	386	c.386C>T	c.(385-387)CCT>CTT	p.P129L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978673	247978673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978673C>T	uc001idm.1	-	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004583	248004583	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248004583C>T	uc001idn.1	-	1	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112949	248112949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112949C>A	uc001idt.1	+	1	790	c.790C>A	c.(790-792)CTG>ATG	p.L264M	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551708	248551708	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248551708A>G	uc001iei.1	+	1	799	c.799A>G	c.(799-801)ACC>GCC	p.T267A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616313	248616313	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248616313C>A	uc001iek.1	+	1	215	c.215C>A	c.(214-216)ACC>AAC	p.T72N		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685734	248685734	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685734G>A	uc001ien.1	+	1	787	c.787G>A	c.(787-789)GCC>ACC	p.A263T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844710	248844710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248844710A>G	uc001ieu.1	-	1	896	c.896T>C	c.(895-897)ATG>ACG	p.M299T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249149772	249149772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249149772C>A	uc001ifc.1	-	8	1111	c.944G>T	c.(943-945)GGC>GTC	p.G315V	ZNF692_uc001iez.1_Missense_Mutation_p.G37V|ZNF692_uc001ifa.1_Missense_Mutation_p.G37V|ZNF692_uc001ifb.1_Missense_Mutation_p.G111V|ZNF692_uc001ifd.1_Missense_Mutation_p.G314V|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.G270V|ZNF692_uc010pzr.1_Missense_Mutation_p.G320V	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1079240	1079240	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1079240T>A	uc002qwq.2	+	2	237	c.109T>A	c.(109-111)TCC>ACC	p.S37T	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.S37T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)														---	---	---	---
TPO	7173	broad.mit.edu	37	2	1437321	1437321	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1437321A>G	uc002qww.2	+	4	382	c.291A>G	c.(289-291)TCA>TCG	p.S97S	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.S97S|TPO_uc002qwu.2_Silent_p.S97S|TPO_uc002qwr.2_Silent_p.S97S|TPO_uc002qwx.2_Silent_p.S97S|TPO_uc010yio.1_Silent_p.S97S|TPO_uc010yip.1_Silent_p.S97S	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	97	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392316	3392316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392316G>A	uc002qxm.1	+	2	1128	c.922G>A	c.(922-924)GAC>AAC	p.D308N	TTC15_uc002qxn.1_Missense_Mutation_p.D308N|TTC15_uc010ewm.1_Missense_Mutation_p.D308N|TTC15_uc002qxl.1_Missense_Mutation_p.D308N	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	308							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392319	3392319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392319G>A	uc002qxm.1	+	2	1131	c.925G>A	c.(925-927)GCC>ACC	p.A309T	TTC15_uc002qxn.1_Missense_Mutation_p.A309T|TTC15_uc010ewm.1_Missense_Mutation_p.A309T|TTC15_uc002qxl.1_Missense_Mutation_p.A309T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	309							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
RPS7	6201	broad.mit.edu	37	2	3627805	3627805	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3627805A>T	uc002qxw.2	+	6	568	c.462A>T	c.(460-462)ATA>ATT	p.I154I	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	154					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)														---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743888	3743888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3743888G>A	uc010ewt.2	+	9	852	c.691G>A	c.(691-693)GCG>ACG	p.A231T	ALLC_uc002qyf.2_Missense_Mutation_p.A2T	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	250							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3744991	3744991	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3744991A>T	uc010ewt.2	+	10	956	c.795A>T	c.(793-795)CGA>CGT	p.R265R	ALLC_uc002qyf.2_Silent_p.R36R	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	284							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
SOX11	6664	broad.mit.edu	37	2	5833108	5833108	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:5833108G>A	uc002qyj.2	+	1	310	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	85	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)														---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137188	7137188	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7137188C>T	uc002qys.2	+	3	573	c.131C>T	c.(130-132)ACT>ATT	p.T44I	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	44	RING-type 1; atypical.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871208	8871208	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8871208G>T	uc002qzc.2	-	30	5140	c.4958C>A	c.(4957-4959)CCT>CAT	p.P1653H	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1554H|KIDINS220_uc002qzb.2_Missense_Mutation_p.P507H	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1653	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8917030	8917030	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8917030A>G	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8919145	8919145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8919145T>A	uc002qzc.2	-	19	2677	c.2495A>T	c.(2494-2496)GAC>GTC	p.D832V	KIDINS220_uc010yiv.1_Missense_Mutation_p.D598V|KIDINS220_uc002qzd.2_Missense_Mutation_p.D790V|KIDINS220_uc010yiw.1_Missense_Mutation_p.D833V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	832	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8934031	8934031	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8934031T>A	uc002qzc.2	-	12	1367	c.1185A>T	c.(1183-1185)CGA>CGT	p.R395R	KIDINS220_uc010yiv.1_Silent_p.R161R|KIDINS220_uc002qzd.2_Silent_p.R353R|KIDINS220_uc010yiw.1_Silent_p.R396R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	395	Cytoplasmic (Potential).|ANK 12.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8937007	8937007	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8937007C>T	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
MBOAT2	129642	broad.mit.edu	37	2	9013440	9013440	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9013440G>A	uc002qzg.1	-						MBOAT2_uc010yix.1_Intron	NM_138799	NP_620154			O-acyltransferase (membrane bound) domain						phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531284	9531284	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531284C>A	uc002qzh.2	+	23	2817	c.2477C>A	c.(2476-2478)GCT>GAT	p.A826D	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	826	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531330	9531330	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531330G>A	uc002qzh.2	+						ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878			ArfGAP with SH3 domain, ankyrin repeat and PH						regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10095208	10095208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10095208G>A	uc002raa.2	+	2	356	c.185G>A	c.(184-186)GGC>GAC	p.G62D	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_RNA	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	62	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10130832	10130832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10130832G>A	uc002raa.2	+	10	1449	c.1278G>A	c.(1276-1278)GAG>GAA	p.E426E	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.E237E|GRHL1_uc010yjb.1_Silent_p.E275E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	426					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
HPCAL1	3241	broad.mit.edu	37	2	10559932	10559932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10559932C>T	uc002raj.2	+	3	423	c.49C>T	c.(49-51)CGG>TGG	p.R17W	HPCAL1_uc002rak.2_Missense_Mutation_p.R17W|HPCAL1_uc002ral.2_Missense_Mutation_p.R17W|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.R17W	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	17							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)														---	---	---	---
NOL10	79954	broad.mit.edu	37	2	10729375	10729375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10729375T>C	uc002raq.2	-	19	1763	c.1638A>G	c.(1636-1638)GAA>GAG	p.E546E	NOL10_uc010yje.1_Silent_p.E520E|NOL10_uc010yjf.1_Silent_p.E496E|NOL10_uc002rap.2_Silent_p.E496E	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	546	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)														---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10912074	10912074	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10912074G>A	uc002ras.2	+						ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451			vacuolar H+ ATPase C2 isoform a						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)														---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11765302	11765302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11765302G>A	uc002rbk.1	+	24	4470	c.4170G>A	c.(4168-4170)TGG>TGA	p.W1390*	GREB1_uc002rbp.1_Nonsense_Mutation_p.W388*	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1390						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11911703	11911703	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11911703A>G	uc010yjn.1	+	5	768	c.494A>G	c.(493-495)GAC>GGC	p.D165G	LPIN1_uc010yjm.1_Missense_Mutation_p.D214G|LPIN1_uc002rbt.2_Missense_Mutation_p.D165G|LPIN1_uc002rbs.2_Missense_Mutation_p.D165G	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	165					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)														---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863637	12863637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:12863637G>A	uc002rbv.3	+	2	1958	c.522G>A	c.(520-522)CGG>CGA	p.R174R	TRIB2_uc010yjp.1_Silent_p.R38R	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	174	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15769774	15769774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15769774A>G	uc002rce.2	+	24	2212	c.1924A>G	c.(1924-1926)AGA>GGA	p.R642G		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	642	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)														---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17697217	17697217	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17697217A>G	uc002rcl.1	-	1	2490	c.2466T>C	c.(2464-2466)AGT>AGC	p.S822S	RAD51AP2_uc010exn.1_Silent_p.S813S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	822										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898096	17898096	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17898096A>G	uc002rco.2	-	14	1554	c.1258T>C	c.(1258-1260)TTT>CTT	p.F420L	SMC6_uc010exo.2_Missense_Mutation_p.F420L|SMC6_uc002rcn.2_Missense_Mutation_p.F420L|SMC6_uc002rcp.1_Missense_Mutation_p.F446L|SMC6_uc002rcq.2_Missense_Mutation_p.F446L|SMC6_uc002rcr.1_Missense_Mutation_p.F420L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	420	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17954063	17954063	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17954063T>A	uc010exo.2	-						GEN1_uc002rct.2_Intron|GEN1_uc010yjs.1_Intron|GEN1_uc002rcu.2_Intron	NM_024624	NP_078900			SMC6 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962934	17962934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962934A>G	uc002rct.2	+	14	2528	c.2455A>G	c.(2455-2457)AGA>GGA	p.R819G	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.R819G|GEN1_uc002rcu.2_Missense_Mutation_p.R819G	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	819					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962986	17962986	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962986G>T	uc002rct.2	+	14	2580	c.2507G>T	c.(2506-2508)GGC>GTC	p.G836V	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.G836V|GEN1_uc002rcu.2_Missense_Mutation_p.G836V	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	836					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18766389	18766389	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18766389A>T	uc002rcz.2	-						NT5C1B_uc002rcy.2_Intron|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Intron|NT5C1B_uc010yjw.1_Intron|NT5C1B_uc010exs.2_Intron|NT5C1B_uc002rdb.1_5'Flank	NM_001002006	NP_001002006			5' nucleotidase, cytosolic IB isoform 1						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)																---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20403763	20403763	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20403763C>A	uc002rdo.1	-	3	737	c.438G>T	c.(436-438)CAG>CAT	p.Q146H	SDC1_uc002rdp.1_Missense_Mutation_p.Q146H|SDC1_uc010exv.2_Missense_Mutation_p.Q146H|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	146	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20451433	20451433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20451433C>T	uc002rds.1	-	20	3131	c.3108G>A	c.(3106-3108)AAG>AAA	p.K1036K	PUM2_uc002rdq.1_Silent_p.K415K|PUM2_uc002rdt.1_Silent_p.K1036K|PUM2_uc002rdr.2_Silent_p.K896K|PUM2_uc010yjy.1_Silent_p.K957K|PUM2_uc002rdu.1_Silent_p.K1036K|PUM2_uc010yjz.1_Silent_p.K975K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	1038	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20483138	20483138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20483138T>C	uc002rds.1	-	10	1424	c.1401A>G	c.(1399-1401)ACA>ACG	p.T467T	PUM2_uc002rdt.1_Silent_p.T467T|PUM2_uc002rdr.2_Silent_p.T406T|PUM2_uc010yjy.1_Silent_p.T467T|PUM2_uc002rdu.1_Silent_p.T467T|PUM2_uc010yjz.1_Silent_p.T406T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	467	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
APOB	338	broad.mit.edu	37	2	21224949	21224949	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21224949G>T	uc002red.2	-	29	13473	c.13345C>A	c.(13345-13347)CAG>AAG	p.Q4449K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4449					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230586	21230586	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230586T>G	uc002red.2	-	26	9282	c.9154A>C	c.(9154-9156)AAT>CAT	p.N3052H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3052					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230676	21230676	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230676C>A	uc002red.2	-	26	9192	c.9064G>T	c.(9064-9066)GAT>TAT	p.D3022Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21232015	21232015	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21232015T>C	uc002red.2	-	26	7853	c.7725A>G	c.(7723-7725)AAA>AAG	p.K2575K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2575					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21237364	21237364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21237364C>A	uc002red.2	-	24	3926	c.3798G>T	c.(3796-3798)ATG>ATT	p.M1266I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1266					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21238370	21238370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21238370G>A	uc002red.2	-	22	3508	c.3380C>T	c.(3379-3381)CCC>CTC	p.P1127L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1127					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252548	21252548	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252548G>A	uc002red.2	-	12	1708	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	527	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252767	21252767	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252767T>C	uc002red.2	-							NM_000384	NP_000375			apolipoprotein B precursor						cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24033224	24033224	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24033224A>G	uc002rek.3	-	18	2710	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.S51P|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	806							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24046213	24046213	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24046213C>T	uc002rek.3	-	16	2340	c.2046G>A	c.(2044-2046)CTG>CTA	p.L682L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	682							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24194218	24194218	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24194218T>A	uc010exy.2	+	4	582	c.114T>A	c.(112-114)GAT>GAA	p.D38E	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D38E|UBXN2A_uc010ykj.1_Missense_Mutation_p.D38E	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	38											0																		---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24205770	24205770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24205770T>A	uc010exy.2	+	6	760	c.292T>A	c.(292-294)TTA>ATA	p.L98I	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.L98I|UBXN2A_uc010ykj.1_Missense_Mutation_p.L98I	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	98	SEP.										0																		---	---	---	---
LOC375190	375190	broad.mit.edu	37	2	24342558	24342558	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24342558T>A	uc002rew.2	+						PFN4_uc002rfa.1_Intron					SubName: Full=Putative uncharacterized protein C2orf84;												0																		---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24493619	24493619	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24493619A>G	uc002rfe.2	-	20	2534	c.2276T>C	c.(2275-2277)TTG>TCG	p.L759S	ITSN2_uc002rff.2_Missense_Mutation_p.L732S|ITSN2_uc002rfg.2_Missense_Mutation_p.L759S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	759	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24533475	24533475	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24533475T>A	uc002rfe.2	-	6	697	c.439A>T	c.(439-441)ACC>TCC	p.T147S	ITSN2_uc002rff.2_Missense_Mutation_p.T147S|ITSN2_uc002rfg.2_Missense_Mutation_p.T147S|ITSN2_uc010eyd.2_Missense_Mutation_p.T147S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	147					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24927967	24927967	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24927967G>A	uc002rfk.2	+	10	1220	c.962G>A	c.(961-963)GGC>GAC	p.G321D	NCOA1_uc010eye.2_Missense_Mutation_p.G321D|NCOA1_uc002rfi.2_Missense_Mutation_p.G170D|NCOA1_uc002rfj.2_Missense_Mutation_p.G321D|NCOA1_uc002rfl.2_Missense_Mutation_p.G321D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	321									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929562	24929562	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24929562C>T	uc002rfk.2	+	11	1481	c.1223C>T	c.(1222-1224)CCA>CTA	p.P408L	NCOA1_uc010eye.2_Missense_Mutation_p.P408L|NCOA1_uc002rfi.2_Missense_Mutation_p.P257L|NCOA1_uc002rfj.2_Missense_Mutation_p.P408L|NCOA1_uc002rfl.2_Missense_Mutation_p.P408L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	408	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
CENPO	79172	broad.mit.edu	37	2	25037355	25037355	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25037355T>A	uc002rfo.1	+	4	516	c.327T>A	c.(325-327)CAT>CAA	p.H109Q	CENPO_uc002rfn.2_Missense_Mutation_p.H109Q|CENPO_uc002rfp.1_Missense_Mutation_p.H103Q|CENPO_uc002rfq.1_Missense_Mutation_p.H109Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	109	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25384290	25384290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25384290C>T	uc002rfy.1	-	4	727	c.464G>A	c.(463-465)CGC>CAC	p.R155H	POMC_uc002rfz.1_Missense_Mutation_p.R155H|POMC_uc002rga.1_Missense_Mutation_p.R155H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	155					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)													---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25463242	25463242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25463242A>T	uc002rgc.2	-	19	2508	c.2251T>A	c.(2251-2253)TTC>ATC	p.F751I	DNMT3A_uc002rgd.2_Missense_Mutation_p.F751I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.F562I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	751					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26437359	26437359	+	Nonsense_Mutation	SNP	G	A	A	rs137852775		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26437359G>A	uc002rgy.2	-	9	1001	c.871C>T	c.(871-873)CGA>TGA	p.R291*	HADHA_uc010yks.1_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)													---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26502916	26502916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26502916T>C	uc002rgz.2	+	10	1117	c.866T>C	c.(865-867)ATG>ACG	p.M289T	HADHB_uc010ykv.1_Missense_Mutation_p.M267T|HADHB_uc010ykw.1_Missense_Mutation_p.M274T|HADHB_uc002rha.2_Missense_Mutation_p.M166T|HADHB_uc010ykx.1_Missense_Mutation_p.M215T	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	289					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26644259	26644259	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26644259A>C	uc002rhg.2	+	3	421	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	116	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26676390	26676390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26676390C>T	uc002rhg.2	+	14	1966	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	631											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26695445	26695445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26695445A>G	uc002rhk.2	-	30	3933	c.3806T>C	c.(3805-3807)GTG>GCG	p.V1269A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.V502A|OTOF_uc002rhi.2_Missense_Mutation_p.V579A|OTOF_uc002rhj.2_Missense_Mutation_p.V502A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1269	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26702518	26702518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26702518T>C	uc002rhk.2	-	17	2043	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	639	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26741942	26741942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26741942A>G	uc002rhk.2	-	4	390	c.263T>C	c.(262-264)GTG>GCG	p.V88A	OTOF_uc010ylb.1_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	88	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27162933	27162933	+	Missense_Mutation	SNP	C	T	T	rs147693720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27162933C>T	uc002rhu.3	+	9	1140	c.982C>T	c.(982-984)CCT>TCT	p.P328S	DPYSL5_uc002rhv.3_Missense_Mutation_p.P328S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	328					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27276785	27276785	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27276785T>A	uc002rie.2	+	4	626	c.409T>A	c.(409-411)TTA>ATA	p.L137I	AGBL5_uc002ric.2_Missense_Mutation_p.L137I|AGBL5_uc002rid.2_Missense_Mutation_p.L137I|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	137					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449763	27449763	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27449763T>A	uc002rji.2	+	15	2382	c.2220T>A	c.(2218-2220)ATT>ATA	p.I740I	CAD_uc010eyw.2_Silent_p.I677I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	740	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481702	27481702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27481702T>C	uc002rjk.2	-	2	382	c.196A>G	c.(196-198)ACC>GCC	p.T66A	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.T61A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	66	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
TRIM54	57159	broad.mit.edu	37	2	27529138	27529138	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27529138C>A	uc002rjo.2	+	7	924	c.924C>A	c.(922-924)AGC>AGA	p.S308R	TRIM54_uc002rjn.2_Missense_Mutation_p.S350R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	308	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27560373	27560373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27560373A>G	uc002rjv.1	-	7	1366	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.W346R|GTF3C2_uc002rjw.1_Missense_Mutation_p.W335R|GTF3C2_uc010eyz.1_Missense_Mutation_p.W335R|uc002rjy.1_RNA	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	335						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27676295	27676295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27676295G>A	uc002rku.2	-	35	3958	c.3907C>T	c.(3907-3909)CGA>TGA	p.R1303*	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1303	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27680796	27680796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27680796T>C	uc002rku.2	-	28	3074	c.3023A>G	c.(3022-3024)AAA>AGA	p.K1008R		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1008					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27682682	27682682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27682682G>A	uc002rku.2	-	24	2587	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	846					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800214	27800214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800214A>G	uc002rkz.3	+	1	826	c.775A>G	c.(775-777)ACT>GCT	p.T259A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	259										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28739692	28739692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28739692A>G	uc002rmb.1	+	2	73	c.73A>G	c.(73-75)ACC>GCC	p.T25A	PLB1_uc010ezj.1_Missense_Mutation_p.T25A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	25	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29287753	29287753	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29287753C>A	uc002rmt.1	-	2	3849	c.3849G>T	c.(3847-3849)CAG>CAT	p.Q1283H		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1283					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1																		---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29386758	29386758	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29386758T>C	uc002rmv.2	+	13	1835	c.1596T>C	c.(1594-1596)GGT>GGC	p.G532G	CLIP4_uc002rmu.2_Silent_p.G532G|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	532	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ALK	238	broad.mit.edu	37	2	29462672	29462672	+	Silent	SNP	G	A	A	rs111253753	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29462672G>A	uc002rmy.2	-	13	3136	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	743	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30381637	30381637	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30381637C>T	uc002rna.3	+	5	855	c.294C>T	c.(292-294)CGC>CGT	p.R98R	YPEL5_uc002rnb.3_Silent_p.R98R|YPEL5_uc002rnc.3_Silent_p.R98R|YPEL5_uc002rmz.3_Silent_p.R98R|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Silent_p.R98R	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	98							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
LCLAT1	253558	broad.mit.edu	37	2	30682536	30682536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30682536G>A	uc002rnj.2	+	2	267	c.58G>A	c.(58-60)GCA>ACA	p.A20T	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A20T|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_5'UTR	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	20					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2																		---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30957312	30957312	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30957312T>C	uc002rnn.2	-						CAPN13_uc002rnm.2_Intron	NM_144575	NP_653176			calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31562486	31562486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31562486A>G	uc002rnv.1	-	34	3722	c.3643T>C	c.(3643-3645)TCC>CCC	p.S1215P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1215					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
XDH	7498	broad.mit.edu	37	2	31588888	31588888	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31588888T>C	uc002rnv.1	-	22	2489	c.2410A>G	c.(2410-2412)ACC>GCC	p.T804A		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	804					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32417985	32417985	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32417985A>G	uc002roe.1	+	7	403	c.366_splice	c.e7-2	p.S122_splice	SLC30A6_uc002rof.1_Splice_Site_p.S162_splice|SLC30A6_uc010ymw.1_Splice_Site_p.S93_splice|SLC30A6_uc010ezr.1_Splice_Site_p.S122_splice|SLC30A6_uc002rog.1_Splice_Site|SLC30A6_uc010ezs.1_Splice_Site_p.S48_splice|SLC30A6_uc002roh.1_Splice_Site	NM_017964	NP_060434			solute carrier family 30 (zinc transporter),							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476209	32476209	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32476209T>G	uc002roi.2	-	4	970	c.724A>C	c.(724-726)AGG>CGG	p.R242R	NLRC4_uc002roj.1_Silent_p.R242R|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32694625	32694625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32694625C>T	uc010ezu.2	+	30	6424	c.6290C>T	c.(6289-6291)TCT>TTT	p.S2097F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2097					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32724640	32724640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32724640C>A	uc010ezu.2	+	46	8629	c.8495C>A	c.(8494-8496)CCT>CAT	p.P2832H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2832					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	33036137	33036137	+	Missense_Mutation	SNP	G	A	A	rs147021005		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33036137G>A	uc002rom.2	+	17	2276	c.2045G>A	c.(2044-2046)CGA>CAA	p.R682Q	TTC27_uc010ymx.1_Missense_Mutation_p.R632Q|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682							protein binding			central_nervous_system(1)	1																		---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589422	33589422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589422C>T	uc002ros.2	+	30	4542	c.4542C>T	c.(4540-4542)AAC>AAT	p.N1514N	LTBP1_uc002rot.2_Silent_p.N1188N|LTBP1_uc002rou.2_Silent_p.N1187N|LTBP1_uc002rov.2_Silent_p.N1134N|LTBP1_uc010ymz.1_Silent_p.N1145N|LTBP1_uc010yna.1_Silent_p.N1092N|LTBP1_uc010ynb.1_Silent_p.N411N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1513					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589423	33589423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589423G>A	uc002ros.2	+	30	4543	c.4543G>A	c.(4543-4545)GAA>AAA	p.E1515K	LTBP1_uc002rot.2_Missense_Mutation_p.E1189K|LTBP1_uc002rou.2_Missense_Mutation_p.E1188K|LTBP1_uc002rov.2_Missense_Mutation_p.E1135K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1146K|LTBP1_uc010yna.1_Missense_Mutation_p.E1093K|LTBP1_uc010ynb.1_Missense_Mutation_p.E412K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1514					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33810274	33810274	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33810274C>T	uc002rpa.1	-	8	1200	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	FAM98A_uc010yne.1_Missense_Mutation_p.G181R|FAM98A_uc010ynd.1_Missense_Mutation_p.G207R|FAM98A_uc002roz.1_Missense_Mutation_p.G214R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	377	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)																	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36764546	36764546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36764546C>T	uc002rpd.2	+	14	2519	c.2480C>T	c.(2479-2481)GCC>GTC	p.A827V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	827	Extracellular (Potential).|VWFC 6.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)																---	---	---	---
VIT	5212	broad.mit.edu	37	2	36982084	36982084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36982084G>A	uc002rpl.2	+	5	517	c.296G>A	c.(295-297)GGA>GAA	p.G99E	VIT_uc002rpk.2_Missense_Mutation_p.G92E|VIT_uc010ynf.1_Missense_Mutation_p.G92E|VIT_uc002rpm.2_Missense_Mutation_p.G92E|VIT_uc010ezv.2_Missense_Mutation_p.G92E|VIT_uc010ezw.2_Missense_Mutation_p.G92E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	99	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255304	37255304	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255304T>C	uc002rpp.1	-	24	3711	c.3615A>G	c.(3613-3615)GCA>GCG	p.A1205A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1205							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255956	37255956	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255956G>A	uc002rpp.1	-	23	3565	c.3469C>T	c.(3469-3471)CTA>TTA	p.L1157L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1157							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
SULT6B1	391365	broad.mit.edu	37	2	37402358	37402358	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37402358T>G	uc002rpu.2	-	5	448	c.427A>C	c.(427-429)AGG>CGG	p.R143R	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	181						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37442030	37442030	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37442030T>C	uc002rpz.2	-	9	2476	c.2446A>G	c.(2446-2448)AGG>GGG	p.R816G		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	816					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454697	37454697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454697C>T	uc002rpz.2	-	2	1669	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454859	37454859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454859C>T	uc002rpz.2	-	2	1507	c.1477G>A	c.(1477-1479)GCA>ACA	p.A493T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	493					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37459358	37459358	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37459358T>A	uc002rqa.3	+	2	240	c.165T>A	c.(163-165)GGT>GGA	p.G55G	CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.G55G|C2orf56_uc010ynk.1_Silent_p.G55G|C2orf56_uc010ynl.1_Silent_p.G55G	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	55					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37474636	37474636	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37474636C>T	uc002rqa.3	+	9	1049	c.974C>T	c.(973-975)GCC>GTC	p.A325V	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.A227V|C2orf56_uc010ynk.1_Missense_Mutation_p.A254V|C2orf56_uc010ynl.1_Missense_Mutation_p.A298V|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	325					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873127	37873127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37873127C>T	uc002rqi.1	-	2	1597	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	202					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)																---	---	---	---
SFRS7	6432	broad.mit.edu	37	2	38975244	38975244	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38975244A>T	uc002rqz.2	-	5	755	c.517T>A	c.(517-519)TCA>ACA	p.S173T	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S173T	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	173	3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)																---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39083499	39083499	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39083499G>A	uc002rrf.2	-	7	1791	c.1692C>T	c.(1690-1692)GTC>GTT	p.V564V	DHX57_uc002rrd.3_5'Flank|DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.V564V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	564	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)																---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222407	39222407	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39222407A>T	uc002rrk.3	-	20	3244	c.3203T>A	c.(3202-3204)ATC>AAC	p.I1068N	SOS1_uc002rrj.3_Missense_Mutation_p.I682N	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1068					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)												Noonan_syndrome				---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39481646	39481646	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39481646C>A	uc002rro.2	-	32	2577	c.2486G>T	c.(2485-2487)AGT>ATT	p.S829I	MAP4K3_uc002rrp.2_Missense_Mutation_p.S808I|MAP4K3_uc010yns.1_Missense_Mutation_p.S382I	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	829	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
EML4	27436	broad.mit.edu	37	2	42522632	42522632	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42522632C>T	uc002rsi.2	+	13	1727	c.1465C>T	c.(1465-1467)CCC>TCC	p.P489S	EML4_uc010fap.2_Missense_Mutation_p.P431S|EML4_uc002rsj.2_Missense_Mutation_p.P178S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	489	WD 4.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
KCNG3	170850	broad.mit.edu	37	2	42671387	42671387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42671387G>A	uc002rsn.2	-	2	1594	c.998C>T	c.(997-999)GCC>GTC	p.A333V	KCNG3_uc002rsm.2_Missense_Mutation_p.A322V	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	333	Helical; Name=Segment S5; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1																		---	---	---	---
HAAO	23498	broad.mit.edu	37	2	43015741	43015741	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43015741C>T	uc002rst.3	-	2	162	c.87G>A	c.(85-87)CAG>CAA	p.Q29Q	HAAO_uc010ynw.1_Silent_p.Q29Q	NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	29	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1																		---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44003961	44003961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44003961A>G	uc002rtk.2	+	2	145	c.49A>G	c.(49-51)AGG>GGG	p.R17G	DYNC2LI1_uc002rth.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rti.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R17G|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	17						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44104732	44104732	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44104732C>T	uc002rtq.2	+	12	1879	c.1789C>T	c.(1789-1791)CGG>TGG	p.R597W	ABCG8_uc010yoa.1_Missense_Mutation_p.R596W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	597	ABC transmembrane type-2.|Extracellular (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)														OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44436458	44436458	+	Missense_Mutation	SNP	G	A	A	rs74261788		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44436458G>A	uc002rtt.2	+	3	1384	c.956G>A	c.(955-957)CGG>CAG	p.R319Q	PPM1B_uc002rts.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtu.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtv.2_Missense_Mutation_p.R32Q|PPM1B_uc002rtw.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtx.2_Missense_Mutation_p.R319Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	319					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44539794	44539794	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44539794C>T	uc002ruc.3	+	8	1480	c.1402C>T	c.(1402-1404)CTT>TTT	p.L468F	SLC3A1_uc002rtz.2_Missense_Mutation_p.L468F|SLC3A1_uc002rua.2_Missense_Mutation_p.L468F|SLC3A1_uc002rub.2_Missense_Mutation_p.L468F|SLC3A1_uc002rud.3_Missense_Mutation_p.L190F|SLC3A1_uc002rue.3_Missense_Mutation_p.L88F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	468	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)													---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46605883	46605883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46605883G>A	uc002ruv.2	+	11	2019	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	511	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46608724	46608724	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46608724G>A	uc002ruv.2	+						EPAS1_uc002ruw.2_Intron	NM_001430	NP_001421			endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
CALM2	805	broad.mit.edu	37	2	47389439	47389439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47389439G>A	uc002rvt.2	-	4	429	c.271C>T	c.(271-273)CGT>TGT	p.R91C	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	91	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)													---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48032855	48032855	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48032855T>C	uc002rwd.3	+						MSH6_uc010fbj.2_Intron|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Intron	NM_000179	NP_000170			mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48045997	48045997	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48045997C>T	uc010fbl.2	-	16	1789	c.1675G>A	c.(1675-1677)GTT>ATT	p.V559I	FBXO11_uc002rwe.2_Missense_Mutation_p.V559I|FBXO11_uc002rwf.2_Missense_Mutation_p.V559I|FBXO11_uc002rwg.1_Missense_Mutation_p.V559I|FBXO11_uc010fbk.2_Missense_Mutation_p.V67I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	643	PbH1 11.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48049367	48049367	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48049367A>G	uc010fbl.2	-	13	1554	c.1440T>C	c.(1438-1440)AAT>AAC	p.N480N	FBXO11_uc002rwe.2_Silent_p.N480N|FBXO11_uc002rwf.2_Silent_p.N480N|FBXO11_uc002rwg.1_Silent_p.N480N|FBXO11_uc010fbk.2_Missense_Mutation_p.M20T	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	564	PbH1 8.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48063100	48063100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48063100T>C	uc010fbl.2	-	5	490	c.376A>G	c.(376-378)ATG>GTG	p.M126V	FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	210					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066614	48066614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48066614T>C	uc010fbl.2	-	3	248	c.134A>G	c.(133-135)AAC>AGC	p.N45S	FBXO11_uc002rwe.2_Missense_Mutation_p.N45S|FBXO11_uc002rwf.2_Missense_Mutation_p.N45S|FBXO11_uc002rwg.1_Missense_Mutation_p.N45S	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	129					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48681829	48681829	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48681829A>T	uc002rwm.2	+	3	407	c.222A>T	c.(220-222)GAA>GAT	p.E74D	KLRAQ1_uc002rwi.1_Missense_Mutation_p.E74D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.E74D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E28D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E74D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E74D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	74	Potential.									ovary(1)	1																		---	---	---	---
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808804	48808804	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48808804C>T	uc010yol.1	+	1	1079	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I	STON1_uc002rwo.3_Silent_p.I344I|STON1_uc010fbm.2_Silent_p.I344I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I344I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I344I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	344					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50850688	50850688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50850688G>A	uc010fbq.2	-	6	2474	c.997C>T	c.(997-999)CCC>TCC	p.P333S	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.P300S|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255150	51255150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:51255150G>A	uc010fbq.2	-	2	1739	c.262C>T	c.(262-264)CGC>TGC	p.R88C	NRXN1_uc002rxe.3_Missense_Mutation_p.R88C|NRXN1_uc002rxd.1_Missense_Mutation_p.R88C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53956630	53956630	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53956630A>G	uc002rxg.1	-	4	568	c.433T>C	c.(433-435)TGT>CGT	p.C145R	ASB3_uc002rxh.1_Missense_Mutation_p.C72R|ASB3_uc002rxi.3_Missense_Mutation_p.C183R|ASB3_uc010yoo.1_Intron	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	145	ANK 5.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54028595	54028595	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54028595G>A	uc002rxl.2	+	7	867	c.587G>A	c.(586-588)GGT>GAT	p.G196D	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.G196D|ERLEC1_uc002rxn.2_Missense_Mutation_p.G196D	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	196					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2																		---	---	---	---
ASB3	51130	broad.mit.edu	37	2	54040075	54040075	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54040075T>C	uc002rxi.3	-						ERLEC1_uc002rxl.2_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Intron	NM_001164165	NP_001157637			hypothetical protein LOC100302652						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
GPR75	10936	broad.mit.edu	37	2	54080358	54080358	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54080358A>G	uc002rxo.3	-	2	1807	c.1536T>C	c.(1534-1536)TAT>TAC	p.Y512Y	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	512	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54117289	54117289	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54117289A>T	uc002rxp.2	-	37	4304	c.4248T>A	c.(4246-4248)ATT>ATA	p.I1416I	PSME4_uc010yop.1_Silent_p.I1302I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.I791I|PSME4_uc010fbv.1_Silent_p.I560I|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54163234	54163234	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54163234T>A	uc002rxp.2	-	7	880	c.824A>T	c.(823-825)TAT>TTT	p.Y275F	PSME4_uc010yop.1_Missense_Mutation_p.Y161F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482364	54482364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482364T>A	uc002rxr.2	-	1	1046	c.925A>T	c.(925-927)ATT>TTT	p.I309F	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	309					nucleosome assembly	nucleus					0																		---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482753	54482753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482753G>A	uc002rxr.2	-	1	657	c.536C>T	c.(535-537)GCA>GTA	p.A179V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	179					nucleosome assembly	nucleus					0																		---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55561385	55561385	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55561385T>A	uc002ryv.2	-	15	3414	c.2572A>T	c.(2572-2574)AAG>TAG	p.K858*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.K760*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.K141*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.K141*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	858	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---
CCDC104	112942	broad.mit.edu	37	2	55756032	55756032	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55756032T>C	uc002ryy.2	+	4	499	c.301T>C	c.(301-303)TTG>CTG	p.L101L	CCDC104_uc002ryx.2_Silent_p.L126L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	101										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55863427	55863427	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55863427C>G	uc002rzf.2	-	28	2350	c.2297G>C	c.(2296-2298)AGA>ACA	p.R766T	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	766					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56108868	56108868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56108868G>A	uc002rzh.2	-	5	849	c.519C>T	c.(517-519)GAC>GAT	p.D173D	EFEMP1_uc002rzi.2_Silent_p.D173D|EFEMP1_uc002rzj.2_Silent_p.D173D|EFEMP1_uc010ypc.1_Silent_p.D115D	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	173	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144864	56144864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144864G>A	uc002rzh.2	-	4	783	c.453C>T	c.(451-453)TCC>TCT	p.S151S	EFEMP1_uc002rzi.2_Silent_p.S151S|EFEMP1_uc002rzj.2_Silent_p.S151S|EFEMP1_uc010ypc.1_Silent_p.S93S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	151					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144942	56144942	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144942G>A	uc002rzh.2	-	4	705	c.375C>T	c.(373-375)GTC>GTT	p.V125V	EFEMP1_uc002rzi.2_Silent_p.V125V|EFEMP1_uc002rzj.2_Silent_p.V125V|EFEMP1_uc010ypc.1_Silent_p.V67V	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	125					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58386904	58386904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58386904T>C	uc002rzw.3	-	14	1191	c.1124A>G	c.(1123-1125)CAC>CGC	p.H375R	VRK2_uc002rzo.2_3'UTR|VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_3'UTR|VRK2_uc002rzv.2_3'UTR|VRK2_uc010fcd.2_3'UTR|VRK2_uc002rzp.2_3'UTR|VRK2_uc010ypg.1_3'UTR|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_3'UTR|FANCL_uc002rzx.3_Missense_Mutation_p.H380R|FANCL_uc010fce.2_Missense_Mutation_p.H347R	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	375					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58392975	58392975	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58392975G>C	uc002rzw.3	-	8	642	c.575C>G	c.(574-576)GCA>GGA	p.A192G	FANCL_uc002rzx.3_Missense_Mutation_p.A197G|FANCL_uc010fce.2_Missense_Mutation_p.A192G|FANCL_uc010fcf.1_Missense_Mutation_p.A133G	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	192					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
REL	5966	broad.mit.edu	37	2	61145339	61145339	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61145339T>C	uc002sam.1	+	6	773	c.549T>C	c.(547-549)ACT>ACC	p.T183T	REL_uc002san.1_Silent_p.T183T	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	183	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)					A		Hodgkin Lymphoma								---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61180224	61180224	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61180224C>A	uc010fci.2	-	15	1276	c.1216G>T	c.(1216-1218)GGT>TGT	p.G406C	PUS10_uc002sao.2_Missense_Mutation_p.G406C|PUS10_uc010ypk.1_Missense_Mutation_p.G183C	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	406					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61475803	61475803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61475803T>C	uc002sbe.2	-	49	6259	c.6237A>G	c.(6235-6237)AAA>AAG	p.K2079K	USP34_uc002sbf.2_Silent_p.K229K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2079					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575064	61575064	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61575064T>A	uc002sbe.2	-	15	2248	c.2226A>T	c.(2224-2226)CGA>CGT	p.R742R		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	742					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61607407	61607407	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61607407A>T	uc002sbe.2	-	7	933	c.911T>A	c.(910-912)TTG>TAG	p.L304*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	304					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719260	61719260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719260G>A	uc002sbj.2	-	16	2525	c.1797C>T	c.(1795-1797)TTC>TTT	p.F599F	XPO1_uc010fcl.2_Silent_p.F595F|XPO1_uc010ypn.1_Silent_p.F595F|XPO1_uc002sbk.2_Silent_p.F160F|XPO1_uc002sbh.2_Silent_p.F246F	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	599	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719733	61719733	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719733T>C	uc002sbj.2	-	14	2263	c.1535A>G	c.(1534-1536)GAC>GGC	p.D512G	XPO1_uc010fcl.2_Missense_Mutation_p.D508G|XPO1_uc010ypn.1_Missense_Mutation_p.D508G|XPO1_uc002sbk.2_Missense_Mutation_p.D73G|XPO1_uc002sbh.2_Missense_Mutation_p.D159G	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	512	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61722717	61722717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61722717G>A	uc002sbj.2	-	11	1648	c.920C>T	c.(919-921)GCG>GTG	p.A307V	XPO1_uc010fcl.2_Missense_Mutation_p.A303V|XPO1_uc010ypn.1_Missense_Mutation_p.A303V|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	307	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63170997	63170997	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63170997T>C	uc002sby.2	+						EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067			EH domain binding protein 1 isoform 1							cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)											Hereditary_Prostate_Cancer				---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63280175	63280175	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63280175T>G	uc002scd.2	+	3	298	c.50T>G	c.(49-51)CTG>CGG	p.L17R	OTX1_uc010ypt.1_5'UTR	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)																	---	---	---	---
C2orf86	51057	broad.mit.edu	37	2	63712103	63712103	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63712103G>A	uc002sch.2	-	5	718	c.272C>T	c.(271-273)ACG>ATG	p.T91M	C2orf86_uc002sci.1_Missense_Mutation_p.T67M|C2orf86_uc010fcr.1_5'Flank	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	91					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0																		---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64114742	64114742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64114742A>G	uc002scm.2	+	8	1584	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	UGP2_uc002scl.2_Silent_p.T415T|UGP2_uc010ypx.1_Silent_p.T435T	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	426					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778626	64778626	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64778626T>G	uc002sdc.2	+	1	50	c.18T>G	c.(16-18)ATT>ATG	p.I6M	AFTPH_uc002scz.2_Missense_Mutation_p.I6M|AFTPH_uc002sda.2_Missense_Mutation_p.I6M|AFTPH_uc002sdb.2_Missense_Mutation_p.I6M	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	6					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64796799	64796799	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64796799T>C	uc002sdc.2	+	4	2289	c.2257T>C	c.(2257-2259)TAT>CAT	p.Y753H	AFTPH_uc002scz.2_Missense_Mutation_p.Y753H|AFTPH_uc002sda.2_Missense_Mutation_p.Y753H|AFTPH_uc002sdb.2_Missense_Mutation_p.Y753H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	753					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67630573	67630573	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:67630573G>A	uc002sdz.1	+	5	898	c.759G>A	c.(757-759)AAG>AAA	p.K253K		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	253						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4																		---	---	---	---
PNO1	56902	broad.mit.edu	37	2	68385539	68385539	+	Missense_Mutation	SNP	C	G	G	rs150153986	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68385539C>G	uc002seh.2	+	2	297	c.235C>G	c.(235-237)CCA>GCA	p.P79A	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	79						nucleolus	RNA binding				0																		---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68620387	68620387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68620387T>C	uc002sen.3	+						PLEK_uc010fde.2_Intron	NM_002664	NP_002655			pleckstrin						actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)														---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69009410	69009410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69009410A>G	uc002seu.2	+	3	671	c.307A>G	c.(307-309)AAC>GAC	p.N103D	ARHGAP25_uc010yqk.1_Missense_Mutation_p.N77D|ARHGAP25_uc010fdg.2_Missense_Mutation_p.N103D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N103D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N96D|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	103	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69049650	69049650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69049650G>A	uc002seu.2	+	10	1740	c.1376G>A	c.(1375-1377)AGC>AAC	p.S459N	ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460N|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420N|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452N|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453N|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186N	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093458	69093458	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093458T>C	uc002sez.1	-	2	739	c.580A>G	c.(580-582)ACC>GCC	p.T194A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	194					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093671	69093671	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093671G>C	uc002sez.1	-	2	526	c.367C>G	c.(367-369)CTC>GTC	p.L123V		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	123					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69300209	69300209	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69300209T>A	uc002sfg.2	+	6	824	c.468T>A	c.(466-468)GAT>GAA	p.D156E	ANTXR1_uc002sfe.2_Missense_Mutation_p.D156E|ANTXR1_uc002sff.2_Missense_Mutation_p.D156E|ANTXR1_uc002sfd.2_Missense_Mutation_p.D156E	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	156	Extracellular (Potential).|Interaction with PA.|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69379379	69379379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69379379C>T	uc002sfg.2	+	13	1386	c.1030C>T	c.(1030-1032)CCC>TCC	p.P344S	ANTXR1_uc002sff.2_Missense_Mutation_p.P344S	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	344	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69708009	69708009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69708009A>G	uc002sfp.2	-	19	3057	c.2552T>C	c.(2551-2553)GTG>GCG	p.V851A		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	851						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408456	70408456	+	Missense_Mutation	SNP	C	T	T	rs139242568		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408456C>T	uc002sgh.2	-	3	990	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	221											0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408477	70408477	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408477C>A	uc002sgh.2	-	3	969	c.641G>T	c.(640-642)GGC>GTC	p.G214V		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	214											0																		---	---	---	---
ADD2	119	broad.mit.edu	37	2	70890850	70890850	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70890850C>T	uc002sgz.2	-	16	2353	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E324K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71036894	71036894	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71036894T>C	uc002shf.2	-	6	1712	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	CLEC4F_uc010yqv.1_Silent_p.P545P	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	545	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71625868	71625868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71625868A>G	uc002shx.2	+	12	2785	c.2466A>G	c.(2464-2466)GTA>GTG	p.V822V	ZNF638_uc010yqw.1_Silent_p.V401V|ZNF638_uc002shy.2_Silent_p.V822V|ZNF638_uc002shz.2_Silent_p.V822V|ZNF638_uc002sia.2_Silent_p.V822V|ZNF638_uc002sib.1_Silent_p.V822V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	822					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71660407	71660407	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71660407T>A	uc002shx.2	+	27	6184	c.5865T>A	c.(5863-5865)AAT>AAA	p.N1955K	ZNF638_uc002shy.2_Missense_Mutation_p.N1955K|ZNF638_uc002shz.2_Missense_Mutation_p.N1934K|ZNF638_uc002sia.2_Missense_Mutation_p.N1955K|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.N1052K|ZNF638_uc002sid.2_Missense_Mutation_p.N324K	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1955	Matrin-type.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71681161	71681161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71681161C>T	uc002sie.2	+	1	409	c.33C>T	c.(31-33)AAC>AAT	p.N11N	DYSF_uc010feg.2_Silent_p.N11N|DYSF_uc010feh.2_Silent_p.N11N|DYSF_uc002sig.3_Silent_p.N11N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.N11N|DYSF_uc010fef.2_Silent_p.N11N|DYSF_uc010fei.2_Silent_p.N11N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	11	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71795459	71795459	+	Missense_Mutation	SNP	C	T	T	rs150717638		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71795459C>T	uc002sie.2	+	26	3177	c.2801C>T	c.(2800-2802)CCG>CTG	p.P934L	DYSF_uc010feg.2_Missense_Mutation_p.P965L|DYSF_uc010feh.2_Missense_Mutation_p.P920L|DYSF_uc002sig.3_Missense_Mutation_p.P920L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P934L|DYSF_uc010fef.2_Missense_Mutation_p.P951L|DYSF_uc010fei.2_Missense_Mutation_p.P951L|DYSF_uc010fek.2_Missense_Mutation_p.P952L|DYSF_uc010fej.2_Missense_Mutation_p.P921L|DYSF_uc010fel.2_Missense_Mutation_p.P921L|DYSF_uc010feo.2_Missense_Mutation_p.P966L|DYSF_uc010fem.2_Missense_Mutation_p.P935L|DYSF_uc010fen.2_Missense_Mutation_p.P952L|DYSF_uc002sif.2_Missense_Mutation_p.P935L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	934	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71891479	71891479	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71891479C>T	uc002sie.2	+	45	5344	c.4968C>T	c.(4966-4968)GAC>GAT	p.D1656D	DYSF_uc010feg.2_Silent_p.D1687D|DYSF_uc010feh.2_Silent_p.D1663D|DYSF_uc002sig.3_Silent_p.D1642D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D1677D|DYSF_uc010fef.2_Silent_p.D1694D|DYSF_uc010fei.2_Silent_p.D1673D|DYSF_uc010fek.2_Silent_p.D1674D|DYSF_uc010fej.2_Silent_p.D1664D|DYSF_uc010fel.2_Silent_p.D1643D|DYSF_uc010feo.2_Silent_p.D1688D|DYSF_uc010fem.2_Silent_p.D1678D|DYSF_uc010fen.2_Silent_p.D1695D|DYSF_uc002sif.2_Silent_p.D1657D|DYSF_uc010yqy.1_Silent_p.D537D|DYSF_uc010yqz.1_Silent_p.D417D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1656	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72371112	72371112	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72371112T>C	uc002sih.1	-						CYP26B1_uc010yra.1_Intron|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938			cytochrome P450, family 26, subfamily b,						cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73476280	73476280	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73476280T>G	uc002siz.2	+	8	1047	c.945T>G	c.(943-945)CCT>CCG	p.P315P	CCT7_uc002sja.2_Silent_p.P111P|CCT7_uc010yrf.1_Silent_p.P271P|CCT7_uc010feu.2_Silent_p.P273P|CCT7_uc010yrg.1_Silent_p.P215P|CCT7_uc010yrh.1_Silent_p.P187P|CCT7_uc010yri.1_Silent_p.P228P	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	315					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0																		---	---	---	---
EGR4	1961	broad.mit.edu	37	2	73519364	73519364	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73519364C>T	uc010yrj.1	-	2	1066	c.991G>A	c.(991-993)GCC>ACC	p.A331T	EGR4_uc010yrk.1_Missense_Mutation_p.A330T	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	227						intracellular	nucleic acid binding|zinc ion binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73679769	73679769	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73679769C>A	uc002sje.1	+	10	6229	c.6118C>A	c.(6118-6120)CCA>ACA	p.P2040T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1996T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1426T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1426T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2038	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717072	73717072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717072C>A	uc002sje.1	+	12	8100	c.7989C>A	c.(7987-7989)TTC>TTA	p.F2663L	ALMS1_uc002sjf.1_Missense_Mutation_p.F2619L|ALMS1_uc002sjg.2_Missense_Mutation_p.F2049L|ALMS1_uc002sjh.1_Missense_Mutation_p.F2049L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2661					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717193	73717193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717193C>T	uc002sje.1	+	12	8221	c.8110C>T	c.(8110-8112)CCG>TCG	p.P2704S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2660S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2090S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2090S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2702					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717520	73717520	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717520T>G	uc002sje.1	+	12	8548	c.8437T>G	c.(8437-8439)TTA>GTA	p.L2813V	ALMS1_uc002sjf.1_Missense_Mutation_p.L2769V|ALMS1_uc002sjg.2_Missense_Mutation_p.L2199V|ALMS1_uc002sjh.1_Missense_Mutation_p.L2199V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2811					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74452027	74452027	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74452027T>C	uc002sko.1	-	24	3236	c.3234A>G	c.(3232-3234)AAA>AAG	p.K1078K	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.K1062K|SLC4A5_uc010ffc.1_Silent_p.K981K|SLC4A5_uc002skp.1_Silent_p.K960K|SLC4A5_uc002sks.1_Missense_Mutation_p.K970R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	1078	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74482997	74482997	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74482997G>A	uc002sko.1	-	8	932	c.930C>T	c.(928-930)GGC>GGT	p.G310G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G310G|SLC4A5_uc010ffc.1_Silent_p.G310G|SLC4A5_uc002skp.1_Silent_p.G246G|SLC4A5_uc002sks.1_Silent_p.G310G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	310	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74489328	74489328	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74489328G>A	uc002sko.1	-	6	749	c.747C>T	c.(745-747)GGC>GGT	p.G249G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G249G|SLC4A5_uc010ffc.1_Silent_p.G249G|SLC4A5_uc002skp.1_Silent_p.G185G|SLC4A5_uc002sks.1_Silent_p.G249G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	249	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652568	74652568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74652568T>C	uc002slb.2	+	9	883	c.823T>C	c.(823-825)TTT>CTT	p.F275L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	275	WD 4.										0																		---	---	---	---
AUP1	550	broad.mit.edu	37	2	74754634	74754634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74754634G>A	uc010yrx.1	-	8	1222	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.P42S|AUP1_uc002smf.2_Missense_Mutation_p.P309S|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.P218S|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	375	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0																		---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74759794	74759794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74783646	74783646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74783646G>A	uc002sms.2	+	5	873	c.851G>A	c.(850-852)GGC>GAC	p.G284D	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G145D|DOK1_uc010ffo.2_Missense_Mutation_p.G145D|DOK1_uc002smt.2_Missense_Mutation_p.G70D|DOK1_uc002smu.2_Missense_Mutation_p.G70D|DOK1_uc010yrz.1_Missense_Mutation_p.G273D|DOK1_uc002smv.2_Missense_Mutation_p.G145D|DOK1_uc002smw.1_Missense_Mutation_p.G70D	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	284	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0																		---	---	---	---
C2orf65	130951	broad.mit.edu	37	2	74789369	74789369	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74789369T>G	uc002smy.2	-	8	1373	c.1256A>C	c.(1255-1257)CAT>CCT	p.H419P	C2orf65_uc010ysa.1_Missense_Mutation_p.H419P|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.H175P	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	419					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74883728	74883728	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74883728T>C	uc002sna.1	+	2	324	c.213T>C	c.(211-213)GAT>GAC	p.D71D	SEMA4F_uc010ysb.1_Silent_p.D71D|SEMA4F_uc010ffq.1_Silent_p.D71D|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.D71D	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	71	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
HK2	3099	broad.mit.edu	37	2	75101407	75101407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75101407G>A	uc002snd.2	+	7	2632	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	236	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
FAM176A	84141	broad.mit.edu	37	2	75720435	75720435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75720435C>T	uc002sni.2	-	4	864	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FAM176A_uc002snj.1_Missense_Mutation_p.R116H|FAM176A_uc002snk.1_Missense_Mutation_p.R129H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	129					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0																		---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349971	79349971	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79349971G>A	uc002snz.2	+	5	429	c.326G>A	c.(325-327)CGC>CAC	p.R109H	REG1A_uc010ysd.1_Missense_Mutation_p.R109H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	109	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0																		---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136866	80136866	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80136866G>A	uc010ysh.1	+	6	1004	c.999G>A	c.(997-999)GCG>GCA	p.A333A	CTNNA2_uc010yse.1_Silent_p.A333A|CTNNA2_uc010ysf.1_Silent_p.A333A|CTNNA2_uc010ysg.1_Silent_p.A333A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	333					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529659	80529659	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529659A>T	uc002sok.1	-	2	1556	c.1286T>A	c.(1285-1287)GTC>GAC	p.V429D	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	429	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529813	80529813	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529813C>T	uc002sok.1	-	2	1402	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	378	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530105	80530105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530105C>T	uc002sok.1	-	2	1110	c.840G>A	c.(838-840)CCG>CCA	p.P280P	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	280	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530309	80530309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530309G>A	uc002sok.1	-	2	906	c.636C>T	c.(634-636)ACC>ACT	p.T212T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	212	LRR 6.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530481	80530481	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530481T>C	uc002sok.1	-	2	734	c.464A>G	c.(463-465)GAC>GGC	p.D155G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	155	LRR 3.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530587	80530587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530587G>A	uc002sok.1	-	2	628	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	120	LRR 2.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80801432	80801432	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80801432T>C	uc010ysh.1	+	12	1891	c.1886T>C	c.(1885-1887)ATG>ACG	p.M629T	CTNNA2_uc010yse.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M261T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	629					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85553786	85553786	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85553786C>T	uc010fgd.1	-	2	1358	c.1069G>A	c.(1069-1071)GGG>AGG	p.G357R	TGOLN2_uc002soz.2_Missense_Mutation_p.G357R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.G299R|TGOLN2_uc002spc.1_Missense_Mutation_p.G357R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	357	Extracellular (Potential).					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85892879	85892879	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85892879T>C	uc002sqh.2	-	5	438	c.432A>G	c.(430-432)AAA>AAG	p.K144K	SFTPB_uc002sqi.2_Silent_p.K156K|SFTPB_uc002sqj.2_Silent_p.K144K	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	144	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86280054	86280054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86280054C>T	uc002sqs.2	-	16	2657	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	POLR1A_uc010ytb.1_Missense_Mutation_p.G126S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	760					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352157	86352157	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352157A>G	uc002sqw.2	+	10	822	c.756A>G	c.(754-756)CCA>CCG	p.P252P	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	252						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352159	86352159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352159A>G	uc002sqw.2	+	10	824	c.758A>G	c.(757-759)GAG>GGG	p.E253G	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	253						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88384012	88384012	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88384012G>C	uc002ssr.2	+	2	316	c.314_splice	c.e2+1	p.R105_splice	SMYD1_uc002ssq.1_Intron	NM_198274	NP_938015			SET and MYND domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88390634	88390634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88390634A>G	uc002ssr.2	+	4	634	c.632A>G	c.(631-633)AAC>AGC	p.N211S	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425860	88425860	+	Silent	SNP	C	T	T	rs145520267	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88425860C>T	uc002sst.1	-	2	117	c.75G>A	c.(73-75)CCG>CCA	p.P25P	FABP1_uc002ssu.2_Silent_p.P25P	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	25					organ morphogenesis						0																		---	---	---	---
C2orf51	200523	broad.mit.edu	37	2	88828944	88828944	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88828944G>T	uc002stb.1	+	4	637	c.495G>T	c.(493-495)AAG>AAT	p.K165N		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	165						nucleus				skin(1)	1																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874529	88874529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88874529A>G	uc002stc.3	-	13	2674	c.2472T>C	c.(2470-2472)ACT>ACC	p.T824T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	824	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88885468	88885468	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88885468T>A	uc002stc.3	-	9	1743	c.1541A>T	c.(1540-1542)GAT>GTT	p.D514V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	514	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88887627	88887627	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88887627A>C	uc002stc.3	-							NM_004836	NP_004827			eukaryotic translation initiation factor 2-alpha						activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89156937	89156937	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89156937G>A	uc010ytr.1	-	243		c.9988C>T			uc002sti.1_RNA|uc002stj.1_RNA					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89309537	89309537	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89309537C>T	uc010ytr.1	-	74		c.6810G>A			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89326709C>A	uc010ytr.1	-	68		c.6469G>T			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95753091	95753091	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95753091G>T	uc002sub.2	-	12					MRPS5_uc002suc.2_RNA	NM_031902	NP_114108			mitochondrial ribosomal protein S5						translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818505	95818505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818505A>G	uc002sue.1	-	4	505	c.131T>C	c.(130-132)GTA>GCA	p.V44A	ZNF514_uc002sud.1_Missense_Mutation_p.V117A	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818523	95818523	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818523A>G	uc002sue.1	-						ZNF514_uc002sud.1_Intron	NM_032788	NP_116177			zinc finger protein 514						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF2	7549	broad.mit.edu	37	2	95847534	95847534	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95847534A>G	uc002suf.2	+	6	1420	c.958A>G	c.(958-960)AAA>GAA	p.K320E	ZNF2_uc002sug.2_Missense_Mutation_p.K278E|ZNF2_uc010yue.1_Missense_Mutation_p.K283E|ZNF2_uc010fhs.2_Missense_Mutation_p.K241E	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	320	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)														---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95947020	95947020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95947020A>G	uc002suh.1	+	12	1591	c.1458A>G	c.(1456-1458)GCA>GCG	p.A486A	PROM2_uc002sui.2_Silent_p.A486A|PROM2_uc002suj.2_Silent_p.A140A|PROM2_uc002suk.2_Silent_p.A486A|PROM2_uc002sul.2_Silent_p.A12A|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	486	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1																		---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781266	96781266	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96781266C>A	uc002svi.2	-	1	623	c.623G>T	c.(622-624)AGG>ATG	p.R208M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	208	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96920595	96920595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96920595A>G	uc002svq.2	-	3	642	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	TMEM127_uc002svr.2_Missense_Mutation_p.Y129H	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	129					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0														Pheochromocytoma_(Adrenal)_Familial				---	---	---	---
LMAN2L	81562	broad.mit.edu	37	2	97377612	97377612	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97377612T>A	uc002swu.2	-	5	694	c.658A>T	c.(658-660)AGG>TGG	p.R220W	LMAN2L_uc002swv.2_Missense_Mutation_p.R231W|LMAN2L_uc010yut.1_Missense_Mutation_p.R86W|LMAN2L_uc010yuu.1_Missense_Mutation_p.R84W|LMAN2L_uc010yuv.1_Missense_Mutation_p.R73W|LMAN2L_uc010yuw.1_Missense_Mutation_p.R75W|LMAN2L_uc002sww.2_Missense_Mutation_p.R73W|LMAN2L_uc010yux.1_Missense_Mutation_p.R75W	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	220	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97490873	97490873	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97490873T>A	uc002swy.2	+	2	1328	c.1304T>A	c.(1303-1305)GTC>GAC	p.V435D	CNNM3_uc002swz.2_Intron	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	435	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97493602	97493602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97493602A>G	uc002swy.2	+	4	1678	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G	CNNM3_uc002swz.2_Missense_Mutation_p.S504G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	552					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97527061	97527061	+	Missense_Mutation	SNP	A	T	T	rs142553481	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97527061A>T	uc002sxh.3	-	15	1964	c.1804T>A	c.(1804-1806)TCC>ACC	p.S602T	SEMA4C_uc002sxf.3_Missense_Mutation_p.S102T|SEMA4C_uc002sxe.2_Missense_Mutation_p.S143T|SEMA4C_uc002sxg.3_Missense_Mutation_p.S655T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	602	Extracellular (Potential).|Ig-like C2-type.			S -> T (in Ref. 1; AAQ89201).	muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98162180	98162180	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98162180A>G	uc010yvc.1	-	24	1910	c.1630T>C	c.(1630-1632)TCT>CCT	p.S544P		NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	544											0																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98175328	98175328	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98175328T>C	uc010yvc.1	-	10	1181	c.901A>G	c.(901-903)AGT>GGT	p.S301G	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	301											0																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275349	98275349	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275349G>T	uc002syb.2	-	5	641	c.433C>A	c.(433-435)CTC>ATC	p.L145I		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	145						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275934	98275934	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275934G>A	uc002syb.2	-	4	404	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	66						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99778419	99778419	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99778419G>A	uc002szm.3	+	4	340	c.0_splice	c.e4-1		MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Splice_Site|LIPT1_uc002szo.3_Splice_Site|LIPT1_uc002szp.3_Splice_Site|LIPT1_uc002szq.3_Splice_Site|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199			lipoyltransferase 1 precursor						lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)													---	---	---	---
LYG1	129530	broad.mit.edu	37	2	99908989	99908989	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99908989T>C	uc002szy.2	-						MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Intron	NM_174898	NP_777558			lysozyme g-like protein 1 precursor						cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0																		---	---	---	---
TXNDC9	10190	broad.mit.edu	37	2	99944055	99944055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99944055T>C	uc002szz.2	-	3	442	c.251A>G	c.(250-252)CAA>CGA	p.Q84R	TXNDC9_uc010yvp.1_Missense_Mutation_p.Q101R|TXNDC9_uc002taa.1_Missense_Mutation_p.Q84R	NM_005783	NP_005774	O14530	TXND9_HUMAN	thioredoxin domain containing 9	84	Thioredoxin.				cell redox homeostasis		protein binding				0																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101584868	101584868	+	Missense_Mutation	SNP	G	A	A	rs143509936		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101584868G>A	uc002tap.1	+	11	1319	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M	NPAS2_uc010yvt.1_Missense_Mutation_p.V410M	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	345	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101591290	101591290	+	Missense_Mutation	SNP	G	A	A	rs77601858	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101591290G>A	uc002tap.1	+	13	1452	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	NPAS2_uc010yvt.1_Missense_Mutation_p.R454Q|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	389					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102490623	102490623	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102490623T>A	uc002tbg.2	+	23	2770	c.2715T>A	c.(2713-2715)AAT>AAA	p.N905K	MAP4K4_uc002tbc.2_Missense_Mutation_p.N986K|MAP4K4_uc002tbd.2_Missense_Mutation_p.N878K|MAP4K4_uc002tbe.2_Missense_Mutation_p.N824K|MAP4K4_uc002tbf.2_Missense_Mutation_p.N939K|MAP4K4_uc010yvy.1_Missense_Mutation_p.N901K|MAP4K4_uc002tbh.2_Missense_Mutation_p.N823K|MAP4K4_uc002tbi.2_Missense_Mutation_p.N708K|MAP4K4_uc010yvz.1_Missense_Mutation_p.N945K|MAP4K4_uc002tbk.2_Missense_Mutation_p.N360K|MAP4K4_uc002tbl.2_Missense_Mutation_p.N91K	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	905	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842390	102842390	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102842390C>A	uc002tbs.2	+	9	1150	c.1024C>A	c.(1024-1026)CTT>ATT	p.L342I	IL1RL2_uc002tbt.2_Missense_Mutation_p.L224I	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	342	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102851656	102851656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102851656A>G	uc002tbs.2	+	11	1723	c.1597A>G	c.(1597-1599)AGA>GGA	p.R533G	IL1RL2_uc002tbt.2_Missense_Mutation_p.R415G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	533	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102955465	102955465	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102955465C>T	uc002tbu.1	+	3	501	c.230C>T	c.(229-231)GCT>GTT	p.A77V	IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.A77V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	77	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	103010928	103010928	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103010928G>A	uc002tbw.3	+	10	1262	c.1112_splice	c.e10-1	p.D371_splice	IL18R1_uc010ywc.1_Splice_Site_p.D370_splice|IL18R1_uc010ywd.1_Splice_Site_p.D215_splice|IL18R1_uc010fiy.2_Splice_Site_p.D371_splice	NM_003855	NP_003846			interleukin 18 receptor 1 precursor						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040692	103040692	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103040692A>C	uc002tbx.2	+	5	881	c.397A>C	c.(397-399)AGC>CGC	p.S133R	IL18RAP_uc010fiz.2_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103090419	103090419	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103090419G>A	uc002tbz.3	+	1	658	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	67	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103121821	103121821	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103121821G>C	uc002tbz.3	+	4	1546	c.1089G>C	c.(1087-1089)GAG>GAC	p.E363D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	363	Helical; Name=J/M8; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103130670	103130670	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103130670A>G	uc002tbz.3	+	8	2138	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	561	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
FHL2	2274	broad.mit.edu	37	2	105984137	105984137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:105984137G>T	uc002tcu.2	-	4	728	c.391C>A	c.(391-393)CGC>AGC	p.R131S	FHL2_uc002tdc.2_Missense_Mutation_p.R17S|FHL2_uc002tdd.2_Missense_Mutation_p.R131S|FHL2_uc002tct.2_Missense_Mutation_p.R17S|FHL2_uc002tcv.2_Missense_Mutation_p.R131S|FHL2_uc002tcw.2_Missense_Mutation_p.R131S|FHL2_uc002tcx.2_Missense_Mutation_p.R131S|FHL2_uc010fje.2_Missense_Mutation_p.R44S|FHL2_uc002tcy.2_Missense_Mutation_p.R131S|FHL2_uc002tcz.2_Missense_Mutation_p.R241S|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.R247S	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	131	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106690348	106690348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106690348T>C	uc010fjf.2	+	3	242	c.134T>C	c.(133-135)GTT>GCT	p.V45A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	45						extracellular region|transport vesicle					0																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106694242	106694242	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106694242T>G	uc010fjf.2	+	4	415	c.307T>G	c.(307-309)TAT>GAT	p.Y103D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	103						extracellular region|transport vesicle					0																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109371632	109371632	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109371632T>A	uc002tem.3	+	17	2509	c.2383T>A	c.(2383-2385)TAT>AAT	p.Y795N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	795					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109379876	109379876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109379876T>C	uc002tem.3	+	20	3007	c.2881T>C	c.(2881-2883)TAC>CAC	p.Y961H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380767	109380767	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380767G>A	uc002tem.3	+	20	3898	c.3772G>A	c.(3772-3774)GCT>ACT	p.A1258T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1258	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380996	109380996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380996T>C	uc002tem.3	+	20	4127	c.4001T>C	c.(4000-4002)ATT>ACT	p.I1334T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1334					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109399324	109399324	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109399324T>C	uc002tem.3	+							NM_006267	NP_006258			RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109526978	109526978	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109526978C>T	uc002teq.3	-	9	1172	c.741G>A	c.(739-741)GTG>GTA	p.V247V	EDAR_uc010fjn.2_Silent_p.V279V|EDAR_uc010yws.1_Silent_p.V279V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	247	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ANKRD57	65124	broad.mit.edu	37	2	110373498	110373498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:110373498A>G	uc002tfb.2	+	1	1588	c.1432A>G	c.(1432-1434)AGA>GGA	p.R478G	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	478											0																		---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111551648	111551648	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111551648T>C	uc002tgr.3	+						ACOXL_uc010fkc.2_Intron|ACOXL_uc010yxk.1_Intron	NM_001105516	NP_001098986			acyl-Coenzyme A oxidase-like 2						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112751930	112751930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112751930G>A	uc002thk.1	+	9	1521	c.1399G>A	c.(1399-1401)GGG>AGG	p.G467R	MERTK_uc002thl.1_Missense_Mutation_p.G291R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	467	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113089388	113089388	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113089388C>G	uc002thq.1	+	12	3287	c.2893C>G	c.(2893-2895)CTA>GTA	p.L965V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	965							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113090015	113090015	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113090015C>T	uc002thq.1	+	12	3914	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	1174							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
TTL	150465	broad.mit.edu	37	2	113243546	113243546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113243546A>G	uc002thu.2	+	2	389	c.210A>G	c.(208-210)AAA>AAG	p.K70K		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	70	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)				T	ETV6	ALL								---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113332742	113332742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113332742A>G	uc002thw.2	+	15	3424	c.2844A>G	c.(2842-2844)ACA>ACG	p.T948T	POLR1B_uc010fkn.2_Silent_p.T892T|POLR1B_uc002thx.2_Silent_p.T809T|POLR1B_uc010fko.2_Silent_p.T765T|POLR1B_uc010fkp.2_Silent_p.T387T|POLR1B_uc010yxn.1_Silent_p.T986T|POLR1B_uc002thy.2_Silent_p.T809T|POLR1B_uc010yxo.1_Silent_p.T725T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	948					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113498582	113498582	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113498582T>A	uc002tie.2	-	8	1904	c.1825A>T	c.(1825-1827)ATT>TTT	p.I609F	CKAP2L_uc002tif.2_Missense_Mutation_p.I198F|CKAP2L_uc010yxp.1_Missense_Mutation_p.I444F|uc002tid.2_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	609						centrosome					0																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113513703	113513703	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113513703T>C	uc002tie.2	-	4	1324	c.1245A>G	c.(1243-1245)GCA>GCG	p.A415A	CKAP2L_uc002tif.2_Silent_p.A4A|CKAP2L_uc010yxp.1_Silent_p.A250A|CKAP2L_uc010yxq.1_Silent_p.A250A	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	415						centrosome					0																		---	---	---	---
CBWD2	150472	broad.mit.edu	37	2	114195463	114195463	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114195463A>T	uc002tju.2	+	1	196	c.18A>T	c.(16-18)GGA>GGT	p.G6G	CBWD2_uc002tjt.2_Silent_p.G6G|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	6							ATP binding|protein binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257141	114257141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257141G>A	uc002tjw.3	+	1	481	c.308G>A	c.(307-309)CGG>CAG	p.R103Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	103					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257269	114257269	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257269C>T	uc002tjw.3	+	1	609	c.436C>T	c.(436-438)CGC>TGC	p.R146C		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257505	114257505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257505C>T	uc002tjw.3	+	1	845	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	224	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257596	114257596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257596G>A	uc002tjw.3	+	1	936	c.763G>A	c.(763-765)GGG>AGG	p.G255R		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	255	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257625	114257625	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257625G>A	uc002tjw.3	+	1	965	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	264	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114480774A>G	uc002tku.1	-						SLC35F5_uc002tkt.2_Intron	NM_025181	NP_079457			solute carrier family 35, member F5						transport	integral to membrane					0																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118586952	118586952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118586952T>A	uc002tlh.1	+	13	1879	c.1780T>A	c.(1780-1782)TCT>ACT	p.S594T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	594							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118588280	118588280	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118588280A>G	uc002tlh.1	+	14	2092	c.1993A>G	c.(1993-1995)AGC>GGC	p.S665G		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	665							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118766233	118766233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118766233A>G	uc002tlj.2	-	2	170	c.44T>C	c.(43-45)GTG>GCG	p.V15A	CCDC93_uc010fld.1_Missense_Mutation_p.V15A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	15										large_intestine(1)|ovary(1)	2																OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118854319	118854319	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120012365	120012365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120012365G>A	uc002tlp.2	+	5	1283	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	STEAP3_uc002tlq.2_Missense_Mutation_p.V386M|STEAP3_uc002tlr.2_Missense_Mutation_p.V376M|STEAP3_uc010fle.2_Missense_Mutation_p.V376M	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	376	Ferric oxidoreductase.|Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
TMEM37	140738	broad.mit.edu	37	2	120194588	120194588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120194588C>T	uc002tly.2	+	2	179	c.145C>T	c.(145-147)CAC>TAC	p.H49Y		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	49						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1																		---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121104185	121104185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121104185T>C	uc002tmn.2	+	1	467	c.421T>C	c.(421-423)TCC>CCC	p.S141P		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	141					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106966	121106966	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106966A>G	uc002tmn.2	+	2	786	c.740A>G	c.(739-741)AAC>AGC	p.N247S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	247					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121712859	121712859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121712859C>T	uc010flp.2	+	4	526	c.496C>T	c.(496-498)CTT>TTT	p.L166F	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.L41F|GLI2_uc002tmw.1_Missense_Mutation_p.L166F	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	166					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122215273	122215273	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122215273C>T	uc002tnc.2	-	14	1765	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A459T|CLASP1_uc010yza.1_Missense_Mutation_p.A459T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A459T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	459	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367380	125367380	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367380A>T	uc002tno.2	+	12	2120	c.1756A>T	c.(1756-1758)ATC>TTC	p.I586F	CNTNAP5_uc010flu.2_Missense_Mutation_p.I587F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367427	125367427	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367427C>T	uc002tno.2	+	12	2167	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	CNTNAP5_uc010flu.2_Silent_p.A602A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	601	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530570	125530570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125530570C>T	uc002tno.2	+	17	3089	c.2725C>T	c.(2725-2727)CAG>TAG	p.Q909*	CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Q910*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	909	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128253655	128253655	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128253655C>G	uc002ton.2	-	7	1938	c.1635G>C	c.(1633-1635)CGG>CGC	p.R545R	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	545					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
LIMS2	55679	broad.mit.edu	37	2	128412420	128412420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128412420C>T	uc002tpa.2	-	3	388	c.222G>A	c.(220-222)CCG>CCA	p.P74P	LIMS2_uc002tox.2_Silent_p.P98P|LIMS2_uc010fmb.2_Translation_Start_Site|LIMS2_uc002toy.2_Silent_p.P69P|LIMS2_uc010yzm.1_Silent_p.P96P|LIMS2_uc002toz.2_Silent_p.P69P|LIMS2_uc002tpb.2_Silent_p.P69P	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	74	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)														---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471327	128471327	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128471327C>T	uc002tpg.1	-	18	3321	c.3138G>A	c.(3136-3138)AGG>AGA	p.R1046R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1046					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128767876G>A	uc002tpp.2	-	7	1046	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128930248	128930248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128930248T>C	uc002tps.2	+	29	3384	c.3206T>C	c.(3205-3207)CTG>CCG	p.L1069P	UGGT1_uc002tpr.2_Missense_Mutation_p.L1045P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1069					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128931343	128931343	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128931343T>C	uc002tps.2	+						UGGT1_uc002tpr.2_Intron	NM_020120	NP_064505			UDP-glucose ceramide glucosyltransferase-like 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130918776	130918776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130918776C>T	uc002tqq.1	-	11	1571	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T	SMPD4_uc002tqp.1_Missense_Mutation_p.A44T|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.A219T|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Silent_p.R64R|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	312					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)													---	---	---	---
FAM123C	205147	broad.mit.edu	37	2	131520350	131520350	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131520350T>G	uc002trw.2	+	2	895	c.705T>G	c.(703-705)TGT>TGG	p.C235W	FAM123C_uc010fmv.2_Missense_Mutation_p.C235W|FAM123C_uc010fms.1_Missense_Mutation_p.C235W|FAM123C_uc010fmt.1_Missense_Mutation_p.C235W|FAM123C_uc010fmu.1_Missense_Mutation_p.C235W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	235										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131704079	131704079	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131704079C>T	uc002tsa.1	+						ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Intron|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002trz.1_Intron	NM_015320	NP_056135			Rho guanine nucleotide exchange factor 4 isoform						apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)														---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021731	132021731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132021731C>T	uc002tsn.2	+	15	2755	c.2703C>T	c.(2701-2703)ACC>ACT	p.T901T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T501T|POTEE_uc002tsl.2_Silent_p.T483T|POTEE_uc010fmy.1_Silent_p.T365T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	901	Actin-like.						ATP binding				0																		---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133174728	133174728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133174728T>C	uc002ttl.2	+	1	582	c.113T>C	c.(112-114)CTG>CCG	p.L38P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	38	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0																		---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135095865	135095865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135095865T>C	uc002ttv.1	+	6	826	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135711759	135711759	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135711759G>A	uc002tuc.1	+	9	1766	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CCNT2_uc002tub.1_Silent_p.S578S|CCNT2_uc010zbf.1_Silent_p.S403S|CCNT2_uc002tud.1_Silent_p.S241S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	578					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135884141	135884141	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135884141T>C	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136389319	136389319	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136389319G>T	uc002tuo.2	+	8	899	c.529G>T	c.(529-531)GAA>TAA	p.E177*	R3HDM1_uc010fni.2_Nonsense_Mutation_p.E175*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E121*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E9*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	177	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136396677	136396677	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136396677A>G	uc002tuo.2	+	14	1574	c.1204A>G	c.(1204-1206)AGG>GGG	p.R402G	R3HDM1_uc010fni.2_Missense_Mutation_p.R400G|R3HDM1_uc002tup.2_Missense_Mutation_p.R346G|R3HDM1_uc010zbh.1_Missense_Mutation_p.R234G	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	402							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136437848	136437848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136437848C>T	uc002tuo.2	+	20	2678	c.2308C>T	c.(2308-2310)CCT>TCT	p.P770S	R3HDM1_uc010fni.2_Missense_Mutation_p.P769S|R3HDM1_uc002tup.2_Missense_Mutation_p.P715S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P518S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
DARS	1615	broad.mit.edu	37	2	136664919	136664919	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136664919C>A	uc002tux.1	-	16	1657	c.1473G>T	c.(1471-1473)ATG>ATT	p.M491I	DARS_uc010fnj.1_Missense_Mutation_p.M391I	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	491					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)													---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138400209	138400209	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138400209T>C	uc002tva.1	+						THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139308136	139308136	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139308136T>C	uc002tvh.2	+	3	562	c.162T>C	c.(160-162)AGT>AGC	p.S54S		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	54	MATH.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)														---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429149	139429149	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139429149G>A	uc002tvi.2	-	2	138	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	46	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990805	140990805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:140990805C>A	uc002tvj.1	-	91	14722	c.13750G>T	c.(13750-13752)GAA>TAA	p.E4584*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4584	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665468	141665468	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141665468G>A	uc002tvj.1	-	22	4470	c.3498C>T	c.(3496-3498)GGC>GGT	p.G1166G	LRP1B_uc010fnl.1_Silent_p.G348G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1166	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144244959	144244959	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144244959A>T	uc002tvm.3	+	9	872	c.721A>T	c.(721-723)AGT>TGT	p.S241C	ARHGAP15_uc002tvn.2_Missense_Mutation_p.S7C	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	241					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156756	145156756	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145156756G>A	uc002tvu.2	-	8	2478	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	ZEB2_uc002tvv.2_Silent_p.N660N|ZEB2_uc010zbm.1_Silent_p.N637N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N695N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	666	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157213	145157213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157213G>A	uc002tvu.2	-	8	2021	c.1541C>T	c.(1540-1542)CCG>CTG	p.P514L	ZEB2_uc002tvv.2_Missense_Mutation_p.P508L|ZEB2_uc010zbm.1_Missense_Mutation_p.P485L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P543L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	514						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148695720	148695720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148695720T>C	uc002twi.2	-	13	1252	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V	ORC4L_uc002twj.2_Missense_Mutation_p.M373V|ORC4L_uc010zbo.1_Missense_Mutation_p.M299V|ORC4L_uc010zbp.1_Missense_Mutation_p.M156V|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Missense_Mutation_p.M289V|ORC4L_uc002twk.2_Missense_Mutation_p.M373V|ORC4L_uc002twl.1_5'Flank	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	373					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247137	149247137	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247137C>T	uc002twm.3	+	12	4225	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1079G|MBD5_uc002two.2_Silent_p.G337G|MBD5_uc002twp.2_Silent_p.G129G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1079						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247533	149247533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247533G>A	uc002twm.3	+	12	4621	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.K1211K|MBD5_uc002two.2_Silent_p.K469K|MBD5_uc002twp.2_Silent_p.K261K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
RND3	390	broad.mit.edu	37	2	151326555	151326555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:151326555C>T	uc002txe.2	-	5	925	c.681G>A	c.(679-681)TCG>TCA	p.S227S	RND3_uc002txf.2_Silent_p.S226S|RND3_uc002txg.2_Silent_p.S227S|RND3_uc010zbv.1_Missense_Mutation_p.R110Q|RND3_uc010zbw.1_Silent_p.S90S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	227					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152330503	152330503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152330503T>C	uc002txm.2	+	35	7251	c.7121T>C	c.(7120-7122)ATT>ACT	p.I2374T	RIF1_uc002txl.2_Missense_Mutation_p.I2348T|RIF1_uc002txn.2_Missense_Mutation_p.I2348T|RIF1_uc002txo.2_Missense_Mutation_p.I2348T|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2374	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152342334	152342334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152342334G>A	uc010fnx.2	-	149	20141	c.19950C>T	c.(19948-19950)GGC>GGT	p.G6650G	NEB_uc002txr.2_Silent_p.G2980G|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.G419G|NEB_uc002txq.2_Silent_p.G529G|NEB_uc010zca.1_Silent_p.G481G|NEB_uc010zcb.1_Silent_p.G419G	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6650	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152381673	152381673	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152381673T>G	uc010fnx.2	-						NEB_uc002txr.2_Intron|NEB_uc002txt.3_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152382735	152382735	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152382735G>A	uc010fnx.2	-	121	17075	c.16884C>T	c.(16882-16884)TGC>TGT	p.C5628C	NEB_uc002txr.2_Silent_p.C2051C|NEB_uc002txt.3_Silent_p.C133C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5628	Nebulin 154.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152410411	152410411	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152410411G>A	uc010fnx.2	-	98	14645	c.14454C>T	c.(14452-14454)CAC>CAT	p.H4818H	NEB_uc002txr.2_Silent_p.H1241H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4818	Nebulin 131.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152472522	152472522	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152472522A>G	uc010fnx.2	-	72	10745	c.10554T>C	c.(10552-10554)GCT>GCC	p.A3518A		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3518	Nebulin 96.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496986	152496986	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496986C>G	uc010fnx.2	-	61	8759	c.8568G>C	c.(8566-8568)AAG>AAC	p.K2856N	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2856	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496994	152496994	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496994G>A	uc010fnx.2	-	61	8751	c.8560C>T	c.(8560-8562)CTG>TTG	p.L2854L	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2854	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152497096	152497096	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152497096A>T	uc010fnx.2	-	61	8649	c.8458T>A	c.(8458-8460)TCC>ACC	p.S2820T	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2820	Nebulin 76.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152506866	152506866	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152506866G>T	uc010fnx.2	-	54	7446	c.7255C>A	c.(7255-7257)CTG>ATG	p.L2419M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2419					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522819	152522819	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522819C>T	uc010fnx.2	-	41	5007	c.4816G>A	c.(4816-4818)GCC>ACC	p.A1606T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1606	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522861	152522861	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522861T>C	uc010fnx.2	-	41	4965	c.4774A>G	c.(4774-4776)AGT>GGT	p.S1592G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1592	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152536326	152536326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152536326T>C	uc010fnx.2	-	32	3355	c.3164A>G	c.(3163-3165)GAC>GGC	p.D1055G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1055	Nebulin 25.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
ARL5A	26225	broad.mit.edu	37	2	152670830	152670830	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152670830A>G	uc002txx.1	-	3	427	c.108T>C	c.(106-108)TTT>TTC	p.F36F	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_5'UTR|ARL5A_uc002txw.1_5'UTR	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	36					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)														---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153378496	153378496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153378496C>T	uc002tye.2	+	2	524	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	53	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153475388	153475388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153475388T>C	uc002tye.2	+	14	1710	c.1343T>C	c.(1342-1344)GTT>GCT	p.V448A	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	448	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334890	154334890	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154334890C>T	uc002tyq.1	-	1	433	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	64	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0																		---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186496	157186496	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157186496C>A	uc002tyz.3	-	3	625	c.203G>T	c.(202-204)AGC>ATC	p.S68I	NR4A2_uc002tyx.3_Missense_Mutation_p.S5I|NR4A2_uc010zcf.1_Missense_Mutation_p.S68I|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	68					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157369851	157369851	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157369851G>A	uc002tzf.3	+	6	864	c.504G>A	c.(502-504)TGG>TGA	p.W168*	GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Nonsense_Mutation_p.W168*|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	168					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157425912	157425912	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157425912T>A	uc002tzf.3	+	11	1698	c.1338T>A	c.(1336-1338)GAT>GAA	p.D446E	GPD2_uc010zch.1_Missense_Mutation_p.D219E|GPD2_uc002tzd.3_Missense_Mutation_p.D446E|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	446					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406865	158406865	+	Missense_Mutation	SNP	A	G	G	rs56188432	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158406865A>G	uc002tzk.3	-	4	827	c.584T>C	c.(583-585)ATT>ACT	p.I195T	ACVR1C_uc002tzl.3_Missense_Mutation_p.I115T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I145T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	195	Protein kinase.|Cytoplasmic (Potential).		I -> T.		apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7																		---	---	---	---
UPP2	151531	broad.mit.edu	37	2	158971666	158971666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158971666G>A	uc002tzp.2	+	3	428	c.234G>A	c.(232-234)ATG>ATA	p.M78I	UPP2_uc002tzo.2_Missense_Mutation_p.M135I	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	78					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0																		---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159195339	159195339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159195339G>A	uc002tzq.2	-	7	926	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y	CCDC148_uc002tzr.2_Silent_p.Y69Y|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.Y168Y|CCDC148_uc010foj.1_Silent_p.Y69Y|CCDC148_uc010fok.1_Silent_p.Y135Y|CCDC148_uc002tzs.1_Silent_p.Y221Y	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	221										ovary(2)	2																		---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159517928	159517928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159517928A>G	uc002tzv.2	+	13	2437	c.2177A>G	c.(2176-2178)CAC>CGC	p.H726R	PKP4_uc002tzt.1_Missense_Mutation_p.H578R|PKP4_uc002tzu.2_Missense_Mutation_p.H726R|PKP4_uc002tzw.2_Missense_Mutation_p.H726R|PKP4_uc002tzx.2_Missense_Mutation_p.H383R|PKP4_uc002tzy.1_Missense_Mutation_p.H384R|PKP4_uc002uaa.2_Missense_Mutation_p.H578R|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	726	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
DAPL1	92196	broad.mit.edu	37	2	159660836	159660836	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159660836G>A	uc002uaf.2	+	2	157	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	34					apoptosis|cell differentiation						0																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035681	160035681	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160035681C>T	uc002uag.2	+						TANC1_uc010zcm.1_Intron|TANC1_uc010fom.1_Intron|TANC1_uc002uai.1_RNA	NM_033394	NP_203752			tetratricopeptide repeat, ankyrin repeat and							cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050845	160050845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050845C>T	uc002uag.2	+	17	3094	c.2820C>T	c.(2818-2820)TGC>TGT	p.C940C	TANC1_uc010zcm.1_Silent_p.C932C|TANC1_uc010fom.1_Silent_p.C746C	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	940	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050927	160050927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050927G>A	uc002uag.2	+	17	3176	c.2902G>A	c.(2902-2904)GGC>AGC	p.G968S	TANC1_uc010zcm.1_Missense_Mutation_p.G960S|TANC1_uc010fom.1_Missense_Mutation_p.G774S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	968	ANK 3.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289417	160289417	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160289417G>A	uc002uao.2	-	9	2103	c.1751C>T	c.(1750-1752)GCA>GTA	p.A584V	BAZ2B_uc002uap.2_Missense_Mutation_p.A582V|BAZ2B_uc002uas.1_Missense_Mutation_p.A521V|BAZ2B_uc002uaq.1_Missense_Mutation_p.A512V|BAZ2B_uc002uar.1_Missense_Mutation_p.A157V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	160983118	160983118	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160983118A>G	uc002ubh.2	-						ITGB6_uc010fou.2_Intron|ITGB6_uc010zcq.1_Intron|ITGB6_uc010fov.1_Intron	NM_000888	NP_000879			integrin, beta 6 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161029176	161029176	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161029176A>G	uc002ubh.2	-	6	841	c.825T>C	c.(823-825)CAT>CAC	p.H275H	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	275	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
TANK	10010	broad.mit.edu	37	2	162087958	162087958	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162087958G>A	uc002ubr.1	+	7	1155	c.997G>A	c.(997-999)GAC>AAC	p.D333N	TANK_uc002ubs.2_Missense_Mutation_p.D333N	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	333						cytosol	metal ion binding|protein binding			ovary(1)	1																		---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162279997	162279997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162279997C>T	uc002ubw.1	+	6	1610	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TBR1_uc010foy.2_Silent_p.F149F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162661031G>A	uc002ubx.3	+	3	387	c.203G>A	c.(202-204)CGT>CAT	p.R68H	SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	68	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162875293	162875293	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162875293A>G	uc002ubz.2	-	16	1927	c.1366T>C	c.(1366-1368)TAC>CAC	p.Y456H	DPP4_uc010fpb.2_Missense_Mutation_p.Y132H	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	456	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059659	163059659	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163059659A>G	uc002ucd.2	-						FAP_uc010zct.1_Intron|FAP_uc010fpd.2_Intron	NM_004460	NP_004451			fibroblast activation protein, alpha subunit						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256819	163256819	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163256819T>C	uc002uch.1	-	10	2499	c.2287A>G	c.(2287-2289)ACC>GCC	p.T763A		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	763	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466724	164466724	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164466724C>T	uc002uck.1	-	3	1929	c.1618G>A	c.(1618-1620)GCT>ACT	p.A540T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	540						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165550768	165550768	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165550768G>T	uc010zcw.1	-						COBLL1_uc002ucp.2_Intron|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucn.2_Intron|COBLL1_uc002uco.2_Intron	NM_014900	NP_055715			COBL-like 1											ovary(2)|pancreas(1)	3																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551250	165551250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165551250A>G	uc010zcw.1	-	15	3091	c.2967T>C	c.(2965-2967)GCT>GCC	p.A989A	COBLL1_uc002ucp.2_Silent_p.A922A|COBLL1_uc002ucq.2_Silent_p.A884A|COBLL1_uc010zcx.1_Silent_p.A930A|COBLL1_uc002ucn.2_Silent_p.A350A|COBLL1_uc002uco.2_Silent_p.A653A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	960										ovary(2)|pancreas(1)	3																		---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165768194	165768194	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165768194A>G	uc002ucv.1	-	11	1284	c.747T>C	c.(745-747)GGT>GGC	p.G249G	SLC38A11_uc002ucu.1_Silent_p.G227G|SLC38A11_uc002ucw.1_Silent_p.G249G	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	249	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165950924	165950924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165950924A>T	uc002ucx.2	-	26	4988	c.4496T>A	c.(4495-4497)CTT>CAT	p.L1499H	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1450H|SCN3A_uc002ucz.2_Missense_Mutation_p.L1450H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1499						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165997314	165997314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165997314G>A	uc002ucx.2	-	13	2358	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	SCN3A_uc002ucy.2_Silent_p.N622N|SCN3A_uc002ucz.2_Silent_p.N622N|SCN3A_uc002uda.1_Silent_p.N491N|SCN3A_uc002udb.1_Silent_p.N491N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	622						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152539	166152539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166152539T>C	uc002udc.2	+	2	496	c.206T>C	c.(205-207)ATT>ACT	p.I69T	SCN2A_uc002udd.2_Missense_Mutation_p.I69T|SCN2A_uc002ude.2_Missense_Mutation_p.I69T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	69					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166168564	166168564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166168564G>A	uc002udc.2	+	8	1290	c.1000G>A	c.(1000-1002)GAT>AAT	p.D334N	SCN2A_uc002udd.2_Missense_Mutation_p.D334N|SCN2A_uc002ude.2_Missense_Mutation_p.D334N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	334	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166179742	166179742	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166179742G>A	uc002udc.2	+	12	2038	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	SCN2A_uc002udd.2_Missense_Mutation_p.R583Q|SCN2A_uc002ude.2_Missense_Mutation_p.R583Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	583					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166231207	166231207	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166231207G>A	uc002udc.2	+	22	4275	c.3985G>A	c.(3985-3987)GCT>ACT	p.A1329T	SCN2A_uc002udd.2_Missense_Mutation_p.A1329T|SCN2A_uc002ude.2_Missense_Mutation_p.A1329T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1329	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166802129	166802129	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166802129A>C	uc002udk.2	-	4	467	c.334T>G	c.(334-336)TAC>GAC	p.Y112D	TTC21B_uc002udl.2_Missense_Mutation_p.Y112D|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	112	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848920	166848920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848920G>A	uc010zcz.1	-	26	4850	c.4832C>T	c.(4831-4833)GCC>GTC	p.A1611V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1622	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167133605	167133605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167133605A>T	uc010fpl.2	-	16	3070	c.2729T>A	c.(2728-2730)TTC>TAC	p.F910Y	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	921	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104512	168104512	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104512A>G	uc002udx.2	+	8	6628	c.6610A>G	c.(6610-6612)ATA>GTA	p.I2204V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2029V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1982V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2029					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
STK39	27347	broad.mit.edu	37	2	169018361	169018361	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169018361A>G	uc002uea.2	-							NM_013233	NP_037365			serine threonine kinase 39 (STE20/SPS1 homolog,						response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169313062	169313062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169313062C>T	uc002ueb.1	+	1	228	c.104C>T	c.(103-105)GCT>GTT	p.A35V	LASS6_uc002uec.1_Missense_Mutation_p.A35V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	35	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169792759	169792759	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169792759G>A	uc002ueo.1	-	22	2921	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	ABCB11_uc010zda.1_Missense_Mutation_p.A374V|ABCB11_uc010zdb.1_Missense_Mutation_p.A408V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	932	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169939959	169939959	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169939959C>G	uc002uep.2	+	6	1938	c.434C>G	c.(433-435)ACA>AGA	p.T145R	DHRS9_uc002ueq.2_Missense_Mutation_p.T145R|DHRS9_uc010zdc.1_Missense_Mutation_p.T205R|DHRS9_uc010zdd.1_Missense_Mutation_p.T145R|DHRS9_uc010zde.1_Missense_Mutation_p.T145R	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	145					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169940033	169940033	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169940033G>A	uc002uep.2	+	6	2012	c.508G>A	c.(508-510)GCA>ACA	p.A170T	DHRS9_uc002ueq.2_Missense_Mutation_p.A170T|DHRS9_uc010zdc.1_Missense_Mutation_p.A230T|DHRS9_uc010zdd.1_Missense_Mutation_p.A170T|DHRS9_uc010zde.1_Missense_Mutation_p.A170T	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	170					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012784	170012784	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012784C>A	uc002ues.2	-	65	12364	c.12151G>T	c.(12151-12153)GGT>TGT	p.G4051C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4051	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170034315	170034315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170034315A>G	uc002ues.2	-	53	10604	c.10391T>C	c.(10390-10392)ATT>ACT	p.I3464T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3464	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170066149G>A	uc002ues.2	-	38	6496	c.6283C>T	c.(6283-6285)CGA>TGA	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2095	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170097855	170097855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170097855A>G	uc002ues.2	-	25	3901	c.3688T>C	c.(3688-3690)TGC>CGC	p.C1230R	LRP2_uc010zdf.1_Missense_Mutation_p.C1093R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1230	Extracellular (Potential).|LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170115570	170115570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170115570A>C	uc002ues.2	-	17	2691	c.2478T>G	c.(2476-2478)AAT>AAG	p.N826K	LRP2_uc010zdf.1_Missense_Mutation_p.N689K	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	826	LDL-receptor class B 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170135946	170135946	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170135946G>A	uc002ues.2	-	12	1714	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	LRP2_uc010zdf.1_Missense_Mutation_p.R501W	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	501	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170936326	170936326	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170936326C>A	uc010zdi.1	+	37	5202	c.5202C>A	c.(5200-5202)GCC>GCA	p.A1734A	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.A555A|UBR3_uc002uft.3_Silent_p.A591A|UBR3_uc010zdj.1_Silent_p.A425A|UBR3_uc002ufu.3_Silent_p.A240A	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1734					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171256774	171256774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171256774A>G	uc002ufy.2	+	17	2011	c.1868A>G	c.(1867-1869)CAA>CGA	p.Q623R	MYO3B_uc002ufv.2_Missense_Mutation_p.Q610R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q610R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q623R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	623	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171702573	171702573	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171702573G>T	uc002ugi.2	+	10	1424	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	334					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171906571	171906571	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171906571T>C	uc002ugn.2	-						TLK1_uc002ugo.2_Intron|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_Intron|TLK1_uc010zdn.1_Intron|TLK1_uc002ugr.1_Intron	NM_012290	NP_036422			tousled-like kinase 1 isoform 1						cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
DCAF17	80067	broad.mit.edu	37	2	172330389	172330389	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172330389T>A	uc002ugx.2	+	10	1224	c.995T>A	c.(994-996)ATC>AAC	p.I332N	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Intron|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.I52N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	332						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0																		---	---	---	---
PDK1	5163	broad.mit.edu	37	2	173457701	173457701	+	Silent	SNP	C	T	T	rs138447627		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173457701C>T	uc002uhr.2	+	10	1195	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	PDK1_uc010zdz.1_Silent_p.Y210Y|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.Y385Y|PDK1_uc002uhs.2_Silent_p.Y365Y|PDK1_uc010zeb.1_Silent_p.Y385Y	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	365	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)											Autosomal_Dominant_Polycystic_Kidney_Disease				---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173891823	173891823	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173891823T>A	uc002uhv.3	+	25	2581	c.2394T>A	c.(2392-2394)TAT>TAA	p.Y798*	RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.Y654*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	798	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174130855	174130855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174130855A>G	uc002uhz.2	+	20	1980	c.1780A>G	c.(1780-1782)AAT>GAT	p.N594D	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	594					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174131092	174131092	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174131092T>A	uc002uhz.2	+	20	2217	c.2017T>A	c.(2017-2019)TAC>AAC	p.Y673N	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	673					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174229673	174229673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174229673T>C	uc002uid.1	+	5	744	c.613T>C	c.(613-615)TAC>CAC	p.Y205H	CDCA7_uc002uic.1_Missense_Mutation_p.Y284H|CDCA7_uc010zej.1_Missense_Mutation_p.Y240H|CDCA7_uc010zek.1_Missense_Mutation_p.Y163H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	205					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)															---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175246441	175246441	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175246441C>A	uc002uim.2	-	3	325	c.232G>T	c.(232-234)GCT>TCT	p.A78S	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	78	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175676303	175676303	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175676303T>C	uc002uji.2	-	10	1430	c.900A>G	c.(898-900)GAA>GAG	p.E300E	CHN1_uc010zeq.1_Silent_p.E274E|CHN1_uc002ujj.2_Silent_p.E75E|CHN1_uc002ujg.2_Silent_p.E175E	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	300	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
ATP5G3	518	broad.mit.edu	37	2	176046086	176046086	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176046086A>T	uc002ujz.3	-	1	306	c.36T>A	c.(34-36)TCT>TCA	p.S12S	ATP5G3_uc002uka.3_Silent_p.S12S|ATP5G3_uc002ukb.1_Silent_p.S12S	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)															---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995452	176995452	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176995452C>G	uc002uko.2	+	1	976	c.358C>G	c.(358-360)CCA>GCA	p.P120A	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P120A	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	120	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---
MTX2	10651	broad.mit.edu	37	2	177202275	177202275	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177202275A>G	uc002ukx.2	+	10	910	c.675A>G	c.(673-675)ACA>ACG	p.T225T	MTX2_uc002ukw.2_Silent_p.T215T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	225					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178415951	178415951	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178415951T>C	uc002uln.2	-	1	1574	c.1541A>G	c.(1540-1542)AAT>AGT	p.N514S	TTC30B_uc010zfc.1_Missense_Mutation_p.N286S	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	514	Potential.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178416839	178416839	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178416839C>T	uc002uln.2	-	1	686	c.653G>A	c.(652-654)GGC>GAC	p.G218D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	218	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179201135	179201135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179201135G>A	uc002ulx.2	+	9	1143	c.765G>A	c.(763-765)TCG>TCA	p.S255S	OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	255					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325710	179325710	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179325710T>C	uc002umi.3	+	7	1124	c.768T>C	c.(766-768)AAT>AAC	p.N256N	DFNB59_uc002umj.3_Silent_p.N256N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	256					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
FKBP7	51661	broad.mit.edu	37	2	179334426	179334426	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179334426A>T	uc002umk.2	-	3	589	c.460T>A	c.(460-462)TTT>ATT	p.F154I	FKBP7_uc002umm.2_Missense_Mutation_p.F153I|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	191	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393421	179393421	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179393421A>G	uc010zfg.1	-	309	99577	c.99353T>C	c.(99352-99354)GTC>GCC	p.V33118A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V26813A|TTN_uc010zfi.1_Missense_Mutation_p.V26746A|TTN_uc010zfj.1_Missense_Mutation_p.V26621A|TTN_uc002umq.2_Missense_Mutation_p.V135A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34045							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395728	179395728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179395728T>C	uc010zfg.1	-	307	98134	c.97910A>G	c.(97909-97911)AAC>AGC	p.N32637S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N26332S|TTN_uc010zfi.1_Missense_Mutation_p.N26265S|TTN_uc010zfj.1_Missense_Mutation_p.N26140S|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33564							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402473	179402473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179402473C>T	uc010zfg.1	-	304	91981	c.91757G>A	c.(91756-91758)CGC>CAC	p.R30586H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281H|TTN_uc010zfi.1_Missense_Mutation_p.R24214H|TTN_uc010zfj.1_Missense_Mutation_p.R24089H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404632	179404632	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179404632G>A	uc010zfg.1	-	301	90680	c.90456C>T	c.(90454-90456)GGC>GGT	p.G30152G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G23847G|TTN_uc010zfi.1_Silent_p.G23780G|TTN_uc010zfj.1_Silent_p.G23655G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31079							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179412969	179412969	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179412969G>T	uc010zfg.1	-	288	85904	c.85680C>A	c.(85678-85680)TCC>TCA	p.S28560S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S22255S|TTN_uc010zfi.1_Silent_p.S22188S|TTN_uc010zfj.1_Silent_p.S22063S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29487							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414486	179414486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414486A>G	uc010zfg.1	-	287	84483	c.84259T>C	c.(84259-84261)TAC>CAC	p.Y28087H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21782H|TTN_uc010zfi.1_Missense_Mutation_p.Y21715H|TTN_uc010zfj.1_Missense_Mutation_p.Y21590H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29014							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414849	179414849	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414849A>G	uc010zfg.1	-	286	84236	c.84012T>C	c.(84010-84012)AAT>AAC	p.N28004N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N21699N|TTN_uc010zfi.1_Silent_p.N21632N|TTN_uc010zfj.1_Silent_p.N21507N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414978	179414978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414978G>A	uc010zfg.1	-	286	84107	c.83883C>T	c.(83881-83883)GGC>GGT	p.G27961G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21656G|TTN_uc010zfi.1_Silent_p.G21589G|TTN_uc010zfj.1_Silent_p.G21464G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179415883	179415883	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179415883T>C	uc010zfg.1	-	285	83895	c.83671A>G	c.(83671-83673)ATT>GTT	p.I27891V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21586V|TTN_uc010zfi.1_Missense_Mutation_p.I21519V|TTN_uc010zfj.1_Missense_Mutation_p.I21394V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417047	179417047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179417047C>T	uc010zfg.1	-	284	83100	c.82876G>A	c.(82876-82878)GCC>ACC	p.A27626T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21321T|TTN_uc010zfi.1_Missense_Mutation_p.A21254T|TTN_uc010zfj.1_Missense_Mutation_p.A21129T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179418786	179418786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179418786T>C	uc010zfg.1	-	282	81572	c.81348A>G	c.(81346-81348)CTA>CTG	p.L27116L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20811L|TTN_uc010zfi.1_Silent_p.L20744L|TTN_uc010zfj.1_Silent_p.L20619L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28043							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179419597	179419597	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179419597A>T	uc010zfg.1	-	280	81109	c.80885T>A	c.(80884-80886)ATC>AAC	p.I26962N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20657N|TTN_uc010zfi.1_Missense_Mutation_p.I20590N|TTN_uc010zfj.1_Missense_Mutation_p.I20465N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27889							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425685	179425685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179425685C>T	uc010zfg.1	-	275	77694	c.77470G>A	c.(77470-77472)GCC>ACC	p.A25824T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A19519T|TTN_uc010zfi.1_Missense_Mutation_p.A19452T|TTN_uc010zfj.1_Missense_Mutation_p.A19327T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26751							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428522	179428522	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179428522G>T	uc010zfg.1	-	275	74857	c.74633C>A	c.(74632-74634)GCT>GAT	p.A24878D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A18573D|TTN_uc010zfi.1_Missense_Mutation_p.A18506D|TTN_uc010zfj.1_Missense_Mutation_p.A18381D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25805							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179429031	179429031	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179429031A>C	uc010zfg.1	-	275	74348	c.74124T>G	c.(74122-74124)TCT>TCG	p.S24708S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S18403S|TTN_uc010zfi.1_Silent_p.S18336S|TTN_uc010zfj.1_Silent_p.S18211S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179432851	179432851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179432851G>A	uc010zfg.1	-	275	70528	c.70304C>T	c.(70303-70305)TCC>TTC	p.S23435F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S17130F|TTN_uc010zfi.1_Missense_Mutation_p.S17063F|TTN_uc010zfj.1_Missense_Mutation_p.S16938F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437140	179437140	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437140G>A	uc010zfg.1	-	275	66239	c.66015C>T	c.(66013-66015)TGC>TGT	p.C22005C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C15700C|TTN_uc010zfi.1_Silent_p.C15633C|TTN_uc010zfj.1_Silent_p.C15508C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437289	179437289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437289G>A	uc010zfg.1	-	275	66090	c.65866C>T	c.(65866-65868)CAG>TAG	p.Q21956*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q15651*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q15584*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q15459*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179442036	179442036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179442036T>C	uc010zfg.1	-	273	61546	c.61322A>G	c.(61321-61323)TAT>TGT	p.Y20441C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14136C|TTN_uc010zfi.1_Missense_Mutation_p.Y14069C|TTN_uc010zfj.1_Missense_Mutation_p.Y13944C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21368							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447037	179447037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179447037G>T	uc010zfg.1	-	263	58666	c.58442C>A	c.(58441-58443)GCC>GAC	p.A19481D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13176D|TTN_uc010zfi.1_Missense_Mutation_p.A13109D|TTN_uc010zfj.1_Missense_Mutation_p.A12984D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20408							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456053	179456053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456053T>C	uc010zfg.1	-	253	52919	c.52695A>G	c.(52693-52695)TCA>TCG	p.S17565S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11260S|TTN_uc010zfi.1_Silent_p.S11193S|TTN_uc010zfj.1_Silent_p.S11068S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18492							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456447	179456447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456447T>C	uc010zfg.1	-	252	52619	c.52395A>G	c.(52393-52395)TTA>TTG	p.L17465L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L11160L|TTN_uc010zfi.1_Silent_p.L11093L|TTN_uc010zfj.1_Silent_p.L10968L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18392							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457902	179457902	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179457902A>G	uc010zfg.1	-	248	51553	c.51329T>C	c.(51328-51330)ATT>ACT	p.I17110T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10805T|TTN_uc010zfi.1_Missense_Mutation_p.I10738T|TTN_uc010zfj.1_Missense_Mutation_p.I10613T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18037							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179462392	179462392	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179462392A>G	uc010zfg.1	-	243	49937	c.49713T>C	c.(49711-49713)ATT>ATC	p.I16571I	uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.I10266I|TTN_uc010zfi.1_Silent_p.I10199I|TTN_uc010zfj.1_Silent_p.I10074I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463262	179463262	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463262T>C	uc010zfg.1	-	241	49602	c.49378A>G	c.(49378-49380)AAA>GAA	p.K16460E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10155E|TTN_uc010zfi.1_Missense_Mutation_p.K10088E|TTN_uc010zfj.1_Missense_Mutation_p.K9963E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17387							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463329	179463329	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463329T>C	uc010zfg.1	-	241	49535	c.49311A>G	c.(49309-49311)GCA>GCG	p.A16437A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10132A|TTN_uc010zfi.1_Silent_p.A10065A|TTN_uc010zfj.1_Silent_p.A9940A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179464134	179464134	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179464134A>G	uc010zfg.1	-	239	48906	c.48682T>C	c.(48682-48684)TCT>CCT	p.S16228P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9923P|TTN_uc010zfi.1_Missense_Mutation_p.S9856P|TTN_uc010zfj.1_Missense_Mutation_p.S9731P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17155							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495656	179495656	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495656G>A	uc010zfg.1	-	187	36549	c.36325C>T	c.(36325-36327)CTG>TTG	p.L12109L	TTN_uc010zfh.1_Silent_p.L5804L|TTN_uc010zfi.1_Silent_p.L5737L|TTN_uc010zfj.1_Silent_p.L5612L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13036							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179517022	179517022	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179517022A>G	uc010zfg.1	-	157	32102	c.31878T>C	c.(31876-31878)CCT>CCC	p.P10626P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179542934	179542934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179542934C>T	uc010zfg.1	-	142	30404	c.30180G>A	c.(30178-30180)GTG>GTA	p.V10060V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6721V|TTN_uc010fre.1_Silent_p.V717V|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10987							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544994	179544994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179544994T>C	uc010zfg.1	-	136	29897	c.29673A>G	c.(29671-29673)GCA>GCG	p.A9891A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6552A|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179547450	179547450	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179547450T>G	uc010zfg.1	-	132	29560	c.29336A>C	c.(29335-29337)TAT>TCT	p.Y9779S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y6440S|TTN_uc010fre.1_Missense_Mutation_p.Y626S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10706							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179554557	179554557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179554557T>C	uc010zfg.1	-	119	28321	c.28097A>G	c.(28096-28098)GAA>GGA	p.E9366G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6027G|TTN_uc010fre.1_Missense_Mutation_p.E477G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10293							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179571293	179571293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179571293G>A	uc010zfg.1	-	99	25800	c.25576C>T	c.(25576-25578)CGA>TGA	p.R8526*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5187*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577959	179577959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179577959T>C	uc010zfg.1	-	90	23394	c.23170A>G	c.(23170-23172)AGT>GGT	p.S7724G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4385G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578862	179578862	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578862A>T	uc010zfg.1	-	89	23015	c.22791T>A	c.(22789-22791)GTT>GTA	p.V7597V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4258V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578874	179578874	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578874T>C	uc010zfg.1	-	89	23003	c.22779A>G	c.(22777-22779)GAA>GAG	p.E7593E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179589031	179589031	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179589031T>G	uc010zfg.1	-	69	17563	c.17339A>C	c.(17338-17340)AAT>ACT	p.N5780T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2441T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6707							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179592343G>A	uc010zfg.1	-	65	16454	c.16230C>T	c.(16228-16230)AGC>AGT	p.S5410S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2071S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6337							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594254	179594254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594254A>G	uc010zfg.1	-	61	15121	c.14897T>C	c.(14896-14898)GTA>GCA	p.V4966A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1627A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5893							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179595492	179595492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179595492T>C	uc010zfg.1	-	58	14260	c.14036A>G	c.(14035-14037)AAA>AGA	p.K4679R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1340R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597786	179597786	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179597786T>C	uc010zfg.1	-	52	12609	c.12385A>G	c.(12385-12387)ACC>GCC	p.T4129A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T790A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600589	179600589	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179600589T>C	uc010zfg.1	-	47	11076	c.10852A>G	c.(10852-10854)AGA>GGA	p.R3618G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R279G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4545							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604327	179604327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604327T>C	uc010zfh.1	-	46	13344	c.13120A>G	c.(13120-13122)AAA>GAA	p.K4374E	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4307E|TTN_uc010zfj.1_Missense_Mutation_p.K4182E|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610654	179610654	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179610654C>A	uc002unb.2	-	46	16697	c.16473G>T	c.(16471-16473)ATG>ATT	p.M5491I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616245	179616245	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179616245C>A	uc002unb.2	-	46	11106	c.10882G>T	c.(10882-10884)GAA>TAA	p.E3628*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621295	179621295	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179621295T>C	uc010zfh.1	-	44	10619	c.10395A>G	c.(10393-10395)GCA>GCG	p.A3465A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179639941	179639941	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179639941A>G	uc010zfg.1	-						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron|uc002unc.1_5'Flank	NM_133378	NP_596869			titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642221	179642221	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179642221T>A	uc010zfg.1	-	26	4795	c.4571A>T	c.(4570-4572)GAT>GTT	p.D1524V	TTN_uc010zfh.1_Missense_Mutation_p.D1478V|TTN_uc010zfi.1_Missense_Mutation_p.D1478V|TTN_uc010zfj.1_Missense_Mutation_p.D1478V|TTN_uc002unb.2_Missense_Mutation_p.D1524V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179710393	179710393	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179710393G>C	uc002unf.1	-	12	1766	c.1709C>G	c.(1708-1710)GCA>GGA	p.A570G	CCDC141_uc002une.1_Missense_Mutation_p.A20G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	570							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730575	179730575	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179730575C>T	uc002unf.1	-	7	975	c.918G>A	c.(916-918)AAG>AAA	p.K306K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	306	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179982318	179982318	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815294	180815294	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180815294C>A	uc010frh.1	-	19	2385	c.2085G>T	c.(2083-2085)GAG>GAT	p.E695D	CWC22_uc002uno.2_Missense_Mutation_p.E217D|CWC22_uc002unp.2_Missense_Mutation_p.E695D	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	695	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182394352	182394352	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182394352C>T	uc002unu.2	+	23	3278	c.2515C>T	c.(2515-2517)CTG>TTG	p.L839L	ITGA4_uc002unv.2_Silent_p.L84L	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	839	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)													---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182412405	182412405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182412405C>T	uc002unx.2	-	11	1387	c.1286G>A	c.(1285-1287)AGC>AAC	p.S429N	CERKL_uc002uny.2_Missense_Mutation_p.S403N|CERKL_uc010zfm.1_Missense_Mutation_p.S385N|CERKL_uc002unz.2_Missense_Mutation_p.S151N|CERKL_uc002uoa.2_Missense_Mutation_p.S334N|CERKL_uc002uob.2_Missense_Mutation_p.S151N|CERKL_uc002uoc.2_Missense_Mutation_p.S290N|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.S198N|CERKL_uc002unw.2_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	429					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543447	182543447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182543447G>A	uc002uof.2	-	2	377	c.141C>T	c.(139-141)AAC>AAT	p.N47N	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	47					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183094743	183094743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183094743G>A	uc002uos.2	-	7	797	c.713C>T	c.(712-714)ACA>ATA	p.T238I	PDE1A_uc010zfp.1_Missense_Mutation_p.T134I|PDE1A_uc002uoq.1_Missense_Mutation_p.T238I|PDE1A_uc010zfq.1_Missense_Mutation_p.T238I|PDE1A_uc002uor.2_Missense_Mutation_p.T222I|PDE1A_uc002uou.2_Missense_Mutation_p.T204I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	238	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)															---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183848065	183848065	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183848065C>T	uc002upc.2	-	11	1452	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	NCKAP1_uc002upb.2_Silent_p.L356L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	350					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800760	185800760	+	Missense_Mutation	SNP	G	A	A	rs139641449		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185800760G>A	uc002uph.2	+	4	1231	c.637G>A	c.(637-639)GGC>AGC	p.G213S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	213						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	186670650	186670650	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186670650T>A	uc002upm.2	+						uc010zfu.1_Silent_p.V37V					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186671431	186671431	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186671431T>C	uc002upm.2	+						uc010zfu.1_Missense_Mutation_p.F298L					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186689152	186689152	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186689152T>C	uc002upm.2	+						uc010zfu.1_Intron					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187534526	187534526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187534526A>G	uc002upq.2	+	26	2967	c.2691A>G	c.(2689-2691)GGA>GGG	p.G897G	ITGAV_uc010frs.2_Silent_p.G861G|ITGAV_uc010zfv.1_Silent_p.G851G	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	897	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693278	187693278	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187693278A>G	uc002upu.1	-	9	1375	c.1335T>C	c.(1333-1335)CCT>CCC	p.P445P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	445					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)															---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189870111	189870111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189870111T>C	uc002uqj.1	+	41	3084	c.2967T>C	c.(2965-2967)AGT>AGC	p.S989S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	989	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189933518	189933518	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189933518A>G	uc002uqk.2	-	19	1526	c.1251T>C	c.(1249-1251)GGT>GGC	p.G417G	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	417					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189948739	189948739	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189948739G>A	uc002uqk.2	-	12	1098	c.823C>T	c.(823-825)CCT>TCT	p.P275S	COL5A2_uc010frx.2_Missense_Mutation_p.P28S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	275					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190322032	190322032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190322032A>G	uc002uql.1	+						WDR75_uc002uqm.1_Intron|WDR75_uc002uqn.1_Intron|WDR75_uc002uqo.1_Translation_Start_Site	NM_032168	NP_115544			WD repeat domain 75							nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)															---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190532261	190532261	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190532261C>G	uc002uqt.2	+	4	1837	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	468	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)															---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190647275	190647275	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190647275A>G	uc002urb.3	-	1	834	c.47T>C	c.(46-48)GTC>GCC	p.V16A	PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.V16A|ORMDL1_uc002urd.3_Missense_Mutation_p.V16A|ORMDL1_uc002ure.3_Missense_Mutation_p.V16A|ORMDL1_uc002urf.3_Missense_Mutation_p.V16A|PMS1_uc010zfz.1_5'Flank	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	16					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)															---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190927276	190927276	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190927276A>G	uc002urp.2	-	1	180	c.47T>C	c.(46-48)ATT>ACT	p.I16T		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	16					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)															---	---	---	---
NAB1	4664	broad.mit.edu	37	2	191524184	191524184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191524184A>G	uc002usb.2	+	4	854	c.282A>G	c.(280-282)ATA>ATG	p.I94M	NAB1_uc010fsc.2_Missense_Mutation_p.I94M|NAB1_uc010fsd.2_Missense_Mutation_p.I94M|NAB1_uc002usc.2_Missense_Mutation_p.I94M|NAB1_uc010zgh.1_Missense_Mutation_p.I94M	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)															---	---	---	---
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191792056G>A	uc002usf.2	+	12	1537	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191796330	191796330	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191796330A>T	uc002usf.2	+	14	1881	c.1617A>T	c.(1615-1617)AAA>AAT	p.K539N	GLS_uc002use.2_Missense_Mutation_p.K539N|GLS_uc002usg.1_Missense_Mutation_p.K200N|GLS_uc002ush.2_Missense_Mutation_p.K200N|GLS_uc010zgi.1_Missense_Mutation_p.K110N|GLS_uc010zgj.1_Missense_Mutation_p.K44N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	539					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191819388	191819388	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191819388T>C	uc002usf.2	+	16	2053	c.1789_splice	c.e16+2	p.G597_splice	GLS_uc002ush.2_Splice_Site_p.G258_splice|GLS_uc010zgi.1_Silent_p.G168G|GLS_uc010zgj.1_Splice_Site_p.G102_splice	NM_014905	NP_055720			glutaminase precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191863025	191863025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191863025G>A	uc002usj.2	-	8	939	c.551C>T	c.(550-552)ACC>ATC	p.T184I	STAT1_uc010fse.1_Missense_Mutation_p.T184I|STAT1_uc002usk.2_Missense_Mutation_p.T184I|STAT1_uc002usl.2_Missense_Mutation_p.T186I|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	184					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)													---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191937856	191937856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191937856G>A	uc002usm.1	-	5	687	c.433C>T	c.(433-435)CAC>TAC	p.H145Y	STAT4_uc002usn.1_Missense_Mutation_p.H145Y|STAT4_uc002uso.2_Missense_Mutation_p.H145Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
STAT4	6775	broad.mit.edu	37	2	192011389	192011389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192011389T>C	uc002usm.1	-	3	477	c.223A>G	c.(223-225)AAA>GAA	p.K75E	STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.K75E|STAT4_uc002uso.2_Missense_Mutation_p.K75E|STAT4_uc002usp.3_Missense_Mutation_p.K75E|STAT4_uc010zgl.1_Missense_Mutation_p.K75E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	75					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192255027	192255027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192255027A>C	uc010fsg.2	+	18	2046	c.1791A>C	c.(1789-1791)AAA>AAC	p.K597N	MYO1B_uc002usq.2_Missense_Mutation_p.K597N|MYO1B_uc002usr.2_Missense_Mutation_p.K597N|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	597	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
SDPR	8436	broad.mit.edu	37	2	192700777	192700777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192700777A>T	uc002utb.2	-	2	1480	c.1150T>A	c.(1150-1152)TCA>ACA	p.S384T		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	384						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)													---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196573391	196573391	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196573391A>G	uc002utg.3	+	5	1612	c.1398A>G	c.(1396-1398)GGA>GGG	p.G466G	SLC39A10_uc002uth.3_Silent_p.G466G|SLC39A10_uc010zgp.1_Silent_p.G16G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	466	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)															---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196619245	196619245	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196619245T>C	uc002utj.3	-						DNAH7_uc002uti.3_Intron	NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196759893	196759893	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196759893T>A	uc002utj.3	-	30	4804	c.4703A>T	c.(4702-4704)GAT>GTT	p.D1568V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196883924	196883924	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196883924G>A	uc002utj.3	-	9	940	c.839C>T	c.(838-840)GCT>GTT	p.A280V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197004488	197004488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197004488T>C	uc002utk.2	-	7	1016	c.692A>G	c.(691-693)CAC>CGC	p.H231R	STK17B_uc010fsh.2_Missense_Mutation_p.H231R	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197010665	197010665	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197010665A>C	uc002utk.2	-	4	774	c.450T>G	c.(448-450)CAT>CAG	p.H150Q	STK17B_uc010fsh.2_Missense_Mutation_p.H150Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	150	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197080627	197080627	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197080627G>A	uc002utm.1	-	28	4752	c.4569C>T	c.(4567-4569)TTC>TTT	p.F1523F	HECW2_uc002utl.1_Silent_p.F1167F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1523	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197559769	197559769	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197559769G>T	uc002utp.1	+	14	1645	c.1510_splice	c.e14-1	p.V504_splice	CCDC150_uc010zgq.1_Splice_Site|CCDC150_uc010zgr.1_Splice_Site|CCDC150_uc010zgs.1_Splice_Site_p.V172_splice|CCDC150_uc010zgt.1_5'Flank	NM_001080539	NP_001074008			coiled-coil domain containing 150												0																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197584353	197584353	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197584353C>T	uc002utp.1	+	19	2263	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	CCDC150_uc010zgs.1_Missense_Mutation_p.R357W|CCDC150_uc010zgt.1_Missense_Mutation_p.R127W|CCDC150_uc002utq.1_Missense_Mutation_p.R25W|CCDC150_uc002utr.1_Missense_Mutation_p.R25W	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	710											0																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634713	197634713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634713A>C	uc002uts.2	-	16	2401	c.2311T>G	c.(2311-2313)TTC>GTC	p.F771V	GTF3C3_uc010zgu.1_Missense_Mutation_p.F742V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	771						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634743	197634743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634743G>A	uc002uts.2	-	16	2371	c.2281C>T	c.(2281-2283)CGC>TGC	p.R761C	GTF3C3_uc010zgu.1_Missense_Mutation_p.R732C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	761	TPR 10.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197767343	197767343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197767343T>C	uc002utw.2	-	5	887	c.773A>G	c.(772-774)AAA>AGA	p.K258R	PGAP1_uc002utx.2_Missense_Mutation_p.K84R|PGAP1_uc002uty.1_Missense_Mutation_p.K258R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.K84R	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	258	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878384	197878384	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197878384T>C	uc002uua.1	-	18	1777	c.1700A>G	c.(1699-1701)GAC>GGC	p.D567G	ANKRD44_uc002utz.3_Missense_Mutation_p.D299G	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	592	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198273121	198273121	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198273121T>C	uc002uue.2	-	8	1137	c.1089A>G	c.(1087-1089)CCA>CCG	p.P363P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	363	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361942	198361942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361942T>C	uc002uui.2	-	3	486	c.349A>G	c.(349-351)ACT>GCT	p.T117A	HSPD1_uc002uuj.2_Missense_Mutation_p.T117A|HSPD1_uc010zgx.1_Missense_Mutation_p.T117A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.T117A|HSPD1_uc010zgy.1_Missense_Mutation_p.T117A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361971	198361971	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361971T>G	uc002uui.2	-	3	457	c.320A>C	c.(319-321)GAA>GCA	p.E107A	HSPD1_uc002uuj.2_Missense_Mutation_p.E107A|HSPD1_uc010zgx.1_Missense_Mutation_p.E107A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.E107A|HSPD1_uc010zgy.1_Missense_Mutation_p.E107A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	107					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201337675	201337675	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201337675A>G	uc002uvn.3	+	12	1533	c.1181A>G	c.(1180-1182)CAC>CGC	p.H394R	SPATS2L_uc010fst.2_Missense_Mutation_p.H394R|SPATS2L_uc002uvo.3_Missense_Mutation_p.H334R|SPATS2L_uc002uvp.3_Missense_Mutation_p.H394R|SPATS2L_uc002uvq.3_Missense_Mutation_p.H325R|SPATS2L_uc002uvr.3_Missense_Mutation_p.H394R|SPATS2L_uc010zhc.1_Missense_Mutation_p.H424R	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	394						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3																		---	---	---	---
AOX1	316	broad.mit.edu	37	2	201526361	201526361	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201526361A>G	uc002uvx.2	+						AOX1_uc010zhf.1_Intron|AOX1_uc010fsu.2_Intron	NM_001159	NP_001150			aldehyde oxidase 1						inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201685984	201685984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201685984A>C	uc010zhg.1	+	11	1332	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	BZW1_uc002uwc.2_Missense_Mutation_p.E329A	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	395	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201718027	201718027	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201718027A>T	uc002uwe.2	-	13					CLK1_uc002uwd.2_3'UTR|CLK1_uc010zhi.1_3'UTR|CLK1_uc002uwf.2_3'UTR|CLK1_uc002uwg.2_3'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062			CDC-like kinase 1 isoform 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201726528	201726528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201726528C>A	uc002uwe.2	-	2	239	c.58G>T	c.(58-60)GGA>TGA	p.G20*	CLK1_uc010zhi.1_Nonsense_Mutation_p.G62*|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	20					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CASP10	843	broad.mit.edu	37	2	202050789	202050789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202050789T>C	uc002uxl.1	+	2	707	c.289T>C	c.(289-291)TGT>CGT	p.C97R	CASP10_uc002uxi.1_Missense_Mutation_p.C97R|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.C97R|CASP10_uc002uxk.1_Missense_Mutation_p.C97R|CASP10_uc010fta.1_Missense_Mutation_p.C97R|CASP10_uc002uxm.1_Missense_Mutation_p.C97R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	97	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6																		---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136301	202136301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202136301T>C	uc002uxr.1	+	4	577	c.368T>C	c.(367-369)CTT>CCT	p.L123P	CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc002uxy.1_Missense_Mutation_p.L123P|CASP8_uc002uxx.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	123	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5															HNSCC(4;0.00038)			---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202483730	202483730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202483730G>A	uc002uye.2	-	1	172	c.124C>T	c.(124-126)CAC>TAC	p.H42Y	ALS2CR11_uc002uyf.2_Missense_Mutation_p.H42Y|ALS2CR11_uc010fti.2_Missense_Mutation_p.H42Y	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	42										large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202510022	202510022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202510022C>T	uc002uyk.3	-	22	2033	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.A227T|MPP4_uc010ftj.2_Missense_Mutation_p.A602T|MPP4_uc010zhq.1_Missense_Mutation_p.A578T|MPP4_uc010zhr.1_Missense_Mutation_p.A585T|MPP4_uc010zhs.1_Missense_Mutation_p.A534T|MPP4_uc002uyj.3_Missense_Mutation_p.A574T|MPP4_uc010zht.1_Missense_Mutation_p.A551T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.A565T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	609	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0																		---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588154	202588154	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202588154A>G	uc002uyo.2	-	22	3879	c.3523T>C	c.(3523-3525)TAT>CAT	p.Y1175H	ALS2_uc002uyp.3_Missense_Mutation_p.Y1175H|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1175	MORN 6.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---
NOP58	51602	broad.mit.edu	37	2	203160406	203160406	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203160406T>C	uc002uzb.2	+	10	1067	c.917T>C	c.(916-918)TTA>TCA	p.L306S		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	306	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0																		---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203630429	203630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203630429T>C	uc010zhx.1	+	8	1722	c.1712T>C	c.(1711-1713)GTC>GCC	p.V571A		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	571										ovary(1)	1																		---	---	---	---
ICA1L	130026	broad.mit.edu	37	2	203693595	203693595	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203693595A>G	uc002uzh.1	-	3	302	c.138T>C	c.(136-138)GAT>GAC	p.D46D	ICA1L_uc002uzi.1_Silent_p.D46D|ICA1L_uc002uzj.2_Silent_p.D46D|ICA1L_uc002uzk.1_Silent_p.D46D	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	46	AH.										0																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204305854	204305854	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204305854G>A	uc002vad.2	-	14	2284	c.2059C>T	c.(2059-2061)CCA>TCA	p.P687S		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	687					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204309652	204309652	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204309652A>C	uc002vad.2	-	13	1940	c.1715T>G	c.(1714-1716)ATT>AGT	p.I572S	RAPH1_uc002vae.2_Missense_Mutation_p.I624S|RAPH1_uc002vaf.2_Missense_Mutation_p.I624S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	572					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	205986606	205986606	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:205986606A>G	uc002var.1	+	8	1305	c.1098A>G	c.(1096-1098)TCA>TCG	p.S366S	PARD3B_uc010fub.1_Silent_p.S366S|PARD3B_uc002vao.1_Silent_p.S366S|PARD3B_uc002vap.1_Silent_p.S366S|PARD3B_uc002vaq.1_Silent_p.S366S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	366					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207011675	207011675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207011675G>A	uc002vbe.2	-	8	816	c.689C>T	c.(688-690)GCC>GTC	p.A230V	NDUFS1_uc010ziq.1_Missense_Mutation_p.A244V|NDUFS1_uc010zir.1_Missense_Mutation_p.A194V|NDUFS1_uc010zis.1_Missense_Mutation_p.A173V|NDUFS1_uc010zit.1_Missense_Mutation_p.A119V|NDUFS1_uc010ziu.1_Missense_Mutation_p.A114V	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	230					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207173626	207173626	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207173626T>G	uc002vbp.2	+	5	4624	c.4374T>G	c.(4372-4374)TCT>TCG	p.S1458S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1458							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174279	207174279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429738	207429738	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429738G>A	uc002vbq.2	+						ADAM23_uc010ziv.1_Intron	NM_003812	NP_003803			ADAM metallopeptidase domain 23 preproprotein						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429771	207429771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429771G>A	uc002vbq.2	+	14	1596	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	458	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207530748	207530748	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207530748A>C	uc002vbr.1	-	10	1103	c.986T>G	c.(985-987)CTT>CGT	p.L329R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	329	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---
CPO	130749	broad.mit.edu	37	2	207825666	207825666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207825666A>G	uc002vby.2	+	6	620	c.574A>G	c.(574-576)AGT>GGT	p.S192G		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	192					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)														---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208432253	208432253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208432253C>T	uc002vcc.2	+	5	621	c.370C>T	c.(370-372)CGA>TGA	p.R124*	CREB1_uc010ziz.1_Nonsense_Mutation_p.R108*|CREB1_uc002vcd.2_Nonsense_Mutation_p.R110*|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	124	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208841586	208841586	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208841586C>A	uc002vcl.2	-	3	1825	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	PLEKHM3_uc002vcm.2_Missense_Mutation_p.Q445H	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	445	PH 2.				intracellular signal transduction		metal ion binding			ovary(1)	1																		---	---	---	---
CRYGC	1420	broad.mit.edu	37	2	208993087	208993087	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208993087C>T	uc002vco.3	-	3	403	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	122	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)														---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113132	209113132	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209113132T>C	uc002vcs.2	-	4	621	c.375A>G	c.(373-375)GTA>GTG	p.V125V	IDH1_uc002vct.2_Silent_p.V125V|IDH1_uc002vcu.2_Silent_p.V125V	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	125					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)				Mis		gliobastoma 								---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209153549	209153549	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209153549T>A	uc002vcz.2	+						PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Intron|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855			phosphatidylinositol-3-phosphate 5-kinase type						cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209165682	209165682	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209165682C>A	uc002vcz.2	+	9	1230	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	PIKFYVE_uc010fun.1_Missense_Mutation_p.L39M|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L358M|PIKFYVE_uc002vcv.2_Missense_Mutation_p.L261M|PIKFYVE_uc002vcw.2_Missense_Mutation_p.L358M|PIKFYVE_uc002vcx.2_Missense_Mutation_p.L272M	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	358					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209271804	209271804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209271804T>C	uc002vdb.2	+	1	249	c.36T>C	c.(34-36)GGT>GGC	p.G12G	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	12						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209307125	209307125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353840	209353840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353840C>T	uc002vdb.2	+	11	1393	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	PTH2R_uc010zjb.1_Missense_Mutation_p.R405C|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	394	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353869	209353869	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353869C>T	uc002vdb.2	+	11	1422	c.1209C>T	c.(1207-1209)TCC>TCT	p.S403S	PTH2R_uc010zjb.1_Silent_p.S414S|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	403	Helical; Name=7; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560092	210560092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210560092G>T	uc002vde.1	+	7	3446	c.3198G>T	c.(3196-3198)AGG>AGT	p.R1066S	MAP2_uc002vdc.1_Missense_Mutation_p.R1066S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1062S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1066					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210574631	210574631	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210574631A>G	uc002vde.1	+						MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210588382	210588382	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210588382A>T	uc002vde.1	+						MAP2_uc002vdd.1_Missense_Mutation_p.N414Y|MAP2_uc002vdf.1_Missense_Mutation_p.N357Y|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210887769	210887769	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210887769T>C	uc002vds.2	-	15	3076	c.2868A>G	c.(2866-2868)GTA>GTG	p.V956V	C2orf67_uc002vdt.2_Silent_p.V914V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	956										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210892042	210892042	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210892042T>C	uc002vds.2	-	12	2637	c.2429A>G	c.(2428-2430)GAA>GGA	p.E810G	C2orf67_uc002vdt.2_Missense_Mutation_p.E768G	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	810										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210896271	210896271	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210896271C>G	uc002vds.2	-	9	2238	c.2030_splice	c.e9-1	p.V677_splice	C2orf67_uc002vdt.2_Intron|uc002vdu.1_Intron	NM_152519	NP_689732			hypothetical protein LOC151050											ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211319880	211319880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211319880G>A	uc010zjh.1	-	4	433	c.358C>T	c.(358-360)CTA>TTA	p.L120L	LANCL1_uc002ved.2_Silent_p.L120L|LANCL1_uc010fuq.2_Silent_p.L120L	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	120						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211457691	211457691	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211457691A>G	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211465360	211465360	+	Missense_Mutation	SNP	C	T	T	rs121912592		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211465360C>T	uc002vee.3	+	15	1763	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	CPS1_uc010fur.2_Missense_Mutation_p.T550M|CPS1_uc010fus.2_Missense_Mutation_p.T93M	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	544			T -> M (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212293210	212293210	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212293210T>A	uc002veg.1	-	22	2742	c.2644_splice	c.e22-1	p.M882_splice	ERBB4_uc002veh.1_Splice_Site_p.M882_splice|ERBB4_uc010zji.1_Splice_Site_p.M872_splice|ERBB4_uc010zjj.1_Splice_Site_p.M872_splice	NM_005235	NP_005226			v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212570080	212570080	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212570080C>A	uc002veg.1	-	10	1259	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D	ERBB4_uc002veh.1_Missense_Mutation_p.E387D|ERBB4_uc010zji.1_Missense_Mutation_p.E387D|ERBB4_uc010zjj.1_Missense_Mutation_p.E387D|ERBB4_uc010fut.1_Missense_Mutation_p.E387D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	387	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213914553	213914553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:213914553C>T	uc002vem.2	-	5	627	c.458G>A	c.(457-459)GGC>GAC	p.G153D	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.G100D|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.G127D|IKZF2_uc002vel.2_Missense_Mutation_p.G74D|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.G127D|IKZF2_uc002ven.2_Missense_Mutation_p.G127D	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)														---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215275016	215275016	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215275016G>A	uc002veq.2	+	16	1965	c.1873G>A	c.(1873-1875)GGC>AGC	p.G625S	SPAG16_uc002ver.2_Missense_Mutation_p.G571S|SPAG16_uc010zjk.1_Missense_Mutation_p.G531S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	625	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215833442	215833442	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215833442A>G	uc002vew.2	-	38	5998	c.5778_splice	c.e38+1	p.K1926_splice	ABCA12_uc002vev.2_Splice_Site_p.K1608_splice|ABCA12_uc010zjn.1_Splice_Site_p.K853_splice	NM_173076	NP_775099			ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215847077	215847077	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215847077A>T	uc002vew.2	-	30	4633	c.4413T>A	c.(4411-4413)CAT>CAA	p.H1471Q	ABCA12_uc002vev.2_Missense_Mutation_p.H1153Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H398Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1471	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215851381	215851381	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215851381C>T	uc002vew.2	-	28	4268	c.4048G>A	c.(4048-4050)GGG>AGG	p.G1350R	ABCA12_uc002vev.2_Missense_Mutation_p.G1032R|ABCA12_uc010zjn.1_Missense_Mutation_p.G277R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1350	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215855563	215855563	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215855563A>G	uc002vew.2	-	24	3707	c.3487T>C	c.(3487-3489)TAT>CAT	p.Y1163H	ABCA12_uc002vev.2_Missense_Mutation_p.Y845H|ABCA12_uc010zjn.1_Missense_Mutation_p.Y90H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1163	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215901775	215901775	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215901775A>G	uc002vew.2	-	8	1107	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	296					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.V296V(1)		ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215928846	215928846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215928846T>C	uc002vew.2	-	3	480	c.260A>G	c.(259-261)TAT>TGT	p.Y87C	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	87					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ATIC	471	broad.mit.edu	37	2	216211630	216211630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216211630C>T	uc002vex.3	+	14	1643	c.1469C>T	c.(1468-1470)GCC>GTC	p.A490V	ATIC_uc010zjo.1_Missense_Mutation_p.A431V|ATIC_uc002vey.3_Missense_Mutation_p.A489V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	490					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)			T	ALK	ALCL								---	---	---	---
FN1	2335	broad.mit.edu	37	2	216241350	216241350	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216241350T>C	uc002vfa.2	-	36	6024	c.5758A>G	c.(5758-5760)ACC>GCC	p.T1920A	FN1_uc002vfb.2_Missense_Mutation_p.T1739A|FN1_uc002vfc.2_Missense_Mutation_p.T1739A|FN1_uc002vfd.2_Missense_Mutation_p.T1920A|FN1_uc002vfe.2_Missense_Mutation_p.T1829A|FN1_uc002vff.2_Missense_Mutation_p.T1829A|FN1_uc002vfg.2_Missense_Mutation_p.T1739A|FN1_uc002vfh.2_Missense_Mutation_p.T1739A|FN1_uc002vfi.2_Missense_Mutation_p.T1920A|FN1_uc002vfj.2_Missense_Mutation_p.T1830A|FN1_uc002vez.2_Missense_Mutation_p.T114A|FN1_uc010zjp.1_Missense_Mutation_p.T457A|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.T282A|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216245532	216245532	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216245532A>T	uc002vfa.2	-	33	5700	c.5434_splice	c.e33+1	p.A1812_splice	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Splice_Site_p.A1812_splice|FN1_uc002vfe.2_Splice_Site_p.A1721_splice|FN1_uc002vff.2_Splice_Site_p.A1721_splice|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Splice_Site_p.A1812_splice|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Splice_Site_p.A174_splice|FN1_uc010fvd.1_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216269191	216269191	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216269191A>G	uc002vfa.2	-	20	3440	c.3174T>C	c.(3172-3174)CCT>CCC	p.P1058P	FN1_uc002vfb.2_Silent_p.P1058P|FN1_uc002vfc.2_Silent_p.P1058P|FN1_uc002vfd.2_Silent_p.P1058P|FN1_uc002vfe.2_Silent_p.P1058P|FN1_uc002vff.2_Silent_p.P1058P|FN1_uc002vfg.2_Silent_p.P1058P|FN1_uc002vfh.2_Silent_p.P1058P|FN1_uc002vfi.2_Silent_p.P1058P|FN1_uc002vfj.2_Silent_p.P1058P	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1058	|Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216272839	216272839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216272839G>A	uc002vfa.2	-	17	2776	c.2510C>T	c.(2509-2511)CCC>CTC	p.P837L	FN1_uc002vfb.2_Missense_Mutation_p.P837L|FN1_uc002vfc.2_Missense_Mutation_p.P837L|FN1_uc002vfd.2_Missense_Mutation_p.P837L|FN1_uc002vfe.2_Missense_Mutation_p.P837L|FN1_uc002vff.2_Missense_Mutation_p.P837L|FN1_uc002vfg.2_Missense_Mutation_p.P837L|FN1_uc002vfh.2_Missense_Mutation_p.P837L|FN1_uc002vfi.2_Missense_Mutation_p.P837L|FN1_uc002vfj.2_Missense_Mutation_p.P837L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	837	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216273076	216273076	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216273076A>T	uc002vfa.2	-	16	2639	c.2373T>A	c.(2371-2373)TAT>TAA	p.Y791*	FN1_uc002vfb.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfc.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfd.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfe.2_Nonsense_Mutation_p.Y791*|FN1_uc002vff.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfg.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfh.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfi.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfj.2_Nonsense_Mutation_p.Y791*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	791	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274843	216274843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216274843A>G	uc002vfa.2	-						FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Intron|FN1_uc002vfj.2_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216300512	216300512	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216300512G>A	uc002vfa.2	-	1	280	c.14C>T	c.(13-15)CCG>CTG	p.P5L	FN1_uc002vfb.2_Missense_Mutation_p.P5L|FN1_uc002vfc.2_Missense_Mutation_p.P5L|FN1_uc002vfd.2_Missense_Mutation_p.P5L|FN1_uc002vfe.2_Missense_Mutation_p.P5L|FN1_uc002vff.2_Missense_Mutation_p.P5L|FN1_uc002vfg.2_Missense_Mutation_p.P5L|FN1_uc002vfh.2_Missense_Mutation_p.P5L|FN1_uc002vfi.2_Missense_Mutation_p.P5L|FN1_uc002vfj.2_Missense_Mutation_p.P5L|FN1_uc002vfl.2_Missense_Mutation_p.P5L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	5					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
MREG	55686	broad.mit.edu	37	2	216810365	216810365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216810365A>G	uc002vfo.2	-	4	735	c.439T>C	c.(439-441)TTA>CTA	p.L147L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	147						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)														---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216981555	216981555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216981555A>G	uc002vfy.2	+	3	449	c.309A>G	c.(307-309)CAA>CAG	p.Q103Q	XRCC5_uc002vfz.2_5'Flank	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	103					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)									Direct_reversal_of_damage|NHEJ					---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217280157	217280157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217280157A>G	uc002vgc.3	+	3	1060	c.730A>G	c.(730-732)AAC>GAC	p.N244D	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N244D|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N244D	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	244					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)										Schimke_Immuno-Osseous_Dysplasia				---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218669296	218669296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218669296G>A	uc002vgt.2	-	33	5492	c.5094C>T	c.(5092-5094)GGC>GGT	p.G1698G	TNS1_uc002vgr.2_Silent_p.G1684G|TNS1_uc002vgs.2_Silent_p.G1677G|TNS1_uc002vgq.2_Silent_p.G198G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1698						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712549	218712549	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218712549C>T	uc002vgt.2	-	17	2714	c.2316G>A	c.(2314-2316)TCG>TCA	p.S772S	TNS1_uc002vgr.2_Silent_p.S772S|TNS1_uc002vgs.2_Silent_p.S772S|TNS1_uc010zjv.1_Silent_p.S772S|TNS1_uc010fvj.1_Silent_p.S840S|TNS1_uc010fvk.1_Silent_p.S897S|TNS1_uc010fvi.1_Silent_p.S459S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	772						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	218999581	218999581	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218999581T>A	uc002vgz.1	+	4	282	c.57T>A	c.(55-57)GAT>GAA	p.D19E	CXCR2_uc002vha.1_Missense_Mutation_p.D19E|CXCR2_uc002vhb.1_Missense_Mutation_p.D19E	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	19	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	219000013	219000013	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219000013A>C	uc002vgz.1	+	4	714	c.489A>C	c.(487-489)AAA>AAC	p.K163N	CXCR2_uc002vha.1_Missense_Mutation_p.K163N|CXCR2_uc002vhb.1_Missense_Mutation_p.K163N	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	163	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR1	3577	broad.mit.edu	37	2	219029676	219029676	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219029676G>T	uc002vhc.2	-	2	378	c.259C>A	c.(259-261)CTC>ATC	p.L87I		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	87	Helical; Name=2; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2																		---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219209631	219209631	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219209631G>T	uc002vhn.2	+	10	1229	c.1085G>T	c.(1084-1086)GGG>GTG	p.G362V	PNKD_uc002vhq.2_Missense_Mutation_p.G338V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	362						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CTDSP1	58190	broad.mit.edu	37	2	219267084	219267084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219267084G>A	uc002vhy.2	+	4	670	c.334G>A	c.(334-336)GCG>ACG	p.A112T	CTDSP1_uc002vhx.2_Missense_Mutation_p.A111T|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	112	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219350422	219350422	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219350422A>T	uc002vie.2	-	16	2088	c.1635T>A	c.(1633-1635)TGT>TGA	p.C545*	USP37_uc010fvs.1_Nonsense_Mutation_p.C545*|USP37_uc010zkf.1_Nonsense_Mutation_p.C545*|USP37_uc002vif.2_Nonsense_Mutation_p.C545*|USP37_uc002vig.2_Nonsense_Mutation_p.C473*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	545					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219411702	219411702	+	Missense_Mutation	SNP	C	T	T	rs141437175		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219411702C>T	uc002vie.2	-	7	995	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	USP37_uc010fvs.1_Missense_Mutation_p.R181Q|USP37_uc010zkf.1_Missense_Mutation_p.R181Q|USP37_uc002vif.2_Missense_Mutation_p.R181Q|USP37_uc002vig.2_Missense_Mutation_p.R109Q|USP37_uc010zkg.1_Missense_Mutation_p.R181Q	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
PLCD4	84812	broad.mit.edu	37	2	219487417	219487417	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219487417A>G	uc002vij.1	+	6	783	c.588A>G	c.(586-588)GTA>GTG	p.V196V	PLCD4_uc002vik.1_Silent_p.V43V|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	196	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508288	219508288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219508288A>T	uc002vin.2	-	8	3387	c.2951T>A	c.(2950-2952)GTC>GAC	p.V984D	ZNF142_uc002vil.2_Missense_Mutation_p.V945D|ZNF142_uc010fvt.2_Missense_Mutation_p.V821D|ZNF142_uc002vim.2_Missense_Mutation_p.V821D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219526039	219526039	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219526039G>A	uc002vio.2	+						ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Intron|BCS1L_uc002viq.2_Intron|BCS1L_uc010fvu.2_Intron|BCS1L_uc010fvv.2_Intron|BCS1L_uc002vir.2_Intron|BCS1L_uc002vis.2_Intron	NM_004328	NP_004319			BCS1-like						mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528796	219528796	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528796G>T	uc002vit.2	-	10	1352	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	RNF25_uc010fvw.2_Missense_Mutation_p.R310S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	422					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528942	219528942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528942G>A	uc002vit.2	-	10	1206	c.1118C>T	c.(1117-1119)CCA>CTA	p.P373L	RNF25_uc010fvw.2_Missense_Mutation_p.P261L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	373					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219558684	219558684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219558684C>T	uc002viu.2	+	19	2580	c.2314C>T	c.(2314-2316)CGG>TGG	p.R772W	STK36_uc002viv.2_Missense_Mutation_p.R772W|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219566579	219566579	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219566579T>A	uc002viu.2	+						STK36_uc002viv.2_Intron|STK36_uc002viw.2_Intron|STK36_uc002vix.2_Intron	NM_015690	NP_056505			serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219603528	219603528	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219603528A>G	uc002viy.2	+	3	1499	c.1129A>G	c.(1129-1131)AGG>GGG	p.R377G	TTLL4_uc010zkl.1_Missense_Mutation_p.R212G|TTLL4_uc010fvx.2_Missense_Mutation_p.R377G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219735872	219735872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219735872C>T	uc002vjc.1	+	2	419	c.204C>T	c.(202-204)GGC>GGT	p.G68G		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	68					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219736234	219736234	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219736234C>T	uc002vjc.1	+	3	544	c.329C>T	c.(328-330)GCC>GTC	p.A110V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	110					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219869020	219869020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219869020T>C	uc002vjl.1	-	33	5293	c.5209A>G	c.(5209-5211)AGC>GGC	p.S1737G	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1737						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SLC23A3	151295	broad.mit.edu	37	2	220033490	220033490	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220033490G>C	uc010zks.1	-	5	669	c.558C>G	c.(556-558)GGC>GGG	p.G186G	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Silent_p.G194G|SLC23A3_uc010fwb.2_Silent_p.G186G|SLC23A3_uc002vjs.1_Missense_Mutation_p.P39A|SLC23A3_uc002vjt.1_Silent_p.G44G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	186	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220046854	220046854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220046854T>C	uc002vjw.3	+	9	1271	c.1135T>C	c.(1135-1137)TCA>CCA	p.S379P	FAM134A_uc010fwc.2_Missense_Mutation_p.S172P|FAM134A_uc002vjx.2_Missense_Mutation_p.S172P	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	379						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220149476	220149476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220349088	220349088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220349088G>A	uc010fwg.2	+	30	6903	c.6903G>A	c.(6901-6903)CCG>CCA	p.P2301P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2301	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220354263	220354263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220354263A>G	uc010fwg.2	+	36	8523	c.8523A>G	c.(8521-8523)CCA>CCG	p.P2841P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2841	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220357350	220357350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220357350C>A	uc010fwg.2	+	41	9646	c.9646C>A	c.(9646-9648)CCA>ACA	p.P3216T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3216	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220366625	220366625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220366625C>T	uc002vlr.2	+	5	363	c.295C>T	c.(295-297)CGA>TGA	p.R99*	GMPPA_uc002vls.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlt.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlu.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlv.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Nonsense_Mutation_p.R99*	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	99					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222310897	222310897	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222310897T>C	uc002vmq.2	-	9	1762	c.1720A>G	c.(1720-1722)AGT>GGT	p.S574G	EPHA4_uc002vmr.2_Missense_Mutation_p.S574G|EPHA4_uc010zlm.1_Missense_Mutation_p.S515G|EPHA4_uc010zln.1_Missense_Mutation_p.S574G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	574	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222321482	222321482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222321482T>C	uc002vmq.2	-	7	1496	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	EPHA4_uc002vmr.2_Missense_Mutation_p.E485G|EPHA4_uc010zlm.1_Missense_Mutation_p.E426G|EPHA4_uc010zln.1_Missense_Mutation_p.E485G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	485	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347160	222347160	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347160G>T	uc002vmq.2	-	5	1272	c.1230C>A	c.(1228-1230)ACC>ACA	p.T410T	EPHA4_uc002vmr.2_Silent_p.T410T|EPHA4_uc010zlm.1_Silent_p.T351T|EPHA4_uc010zln.1_Silent_p.T410T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	410	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347301	222347301	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347301A>G	uc002vmq.2	-	5	1131	c.1089T>C	c.(1087-1089)AAT>AAC	p.N363N	EPHA4_uc002vmr.2_Silent_p.N363N|EPHA4_uc010zlm.1_Silent_p.N304N|EPHA4_uc010zln.1_Silent_p.N363N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
FARSB	10056	broad.mit.edu	37	2	223499245	223499245	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223499245A>G	uc002vne.1	-	6	506	c.471T>C	c.(469-471)GTT>GTC	p.V157V	FARSB_uc010zlq.1_Silent_p.V177V|FARSB_uc002vnf.1_Silent_p.V58V	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	157					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)													---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223559222	223559222	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223559222G>T	uc010fws.1	+	4	668	c.620G>T	c.(619-621)CGG>CTG	p.R207L	MOGAT1_uc010fwt.1_Missense_Mutation_p.R167L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	207					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)														---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223781031	223781031	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223781031T>C	uc002vni.2	+						ACSL3_uc002vnj.2_Intron	NM_004457	NP_004448			acyl-CoA synthetase long-chain family member 3						long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)			T	ETV1	prostate								---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224462954	224462954	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224462954A>T	uc002vnm.2	-	2	1180	c.1047T>A	c.(1045-1047)TAT>TAA	p.Y349*		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	349					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224863058	224863058	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224863058T>C	uc002vnu.2	-	3	504	c.261A>G	c.(259-261)GGA>GGG	p.G87G	SERPINE2_uc002vnt.2_Silent_p.G87G|SERPINE2_uc010zlr.1_Silent_p.G99G|SERPINE2_uc002vnv.2_Silent_p.G87G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	87					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225630541	225630541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225630541T>C	uc010fwz.1	-	56	6697	c.6458A>G	c.(6457-6459)GAC>GGC	p.D2153G	DOCK10_uc002vob.2_Missense_Mutation_p.D2147G|DOCK10_uc002voa.2_Silent_p.G834G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2153							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226273691	226273691	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226273691A>G	uc002voe.2	+	2	270	c.95A>G	c.(94-96)GAT>GGT	p.D32G	KIAA1486_uc010fxa.1_Missense_Mutation_p.D27G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	32								p.D32N(1)		ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226446929	226446929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446929G>A	uc002voe.2	+	4	971	c.796G>A	c.(796-798)GCC>ACC	p.A266T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A36T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	266										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226447576	226447576	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226447576G>A	uc002voe.2	+	4	1618	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	481										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660190	227660190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227660190G>A	uc002voh.3	-	1	3317	c.3265C>T	c.(3265-3267)CGT>TGT	p.R1089C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1089					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663097	227663097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663097G>A	uc002voh.3	-	1	410	c.358C>T	c.(358-360)CAC>TAC	p.H120Y		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	120	Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)												OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227732001	227732001	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227732001T>A	uc002voi.2	+	3	654	c.533T>A	c.(532-534)GTC>GAC	p.V178D	RHBDD1_uc010fxc.2_Missense_Mutation_p.V178D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	178						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227919385	227919385	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227919385G>A	uc010zlt.1	-	31	3439	c.2785C>T	c.(2785-2787)CCT>TCT	p.P929S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	929	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
MFF	56947	broad.mit.edu	37	2	228220472	228220472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228220472C>T	uc002vos.2	+	10	1310	c.892C>T	c.(892-894)CGA>TGA	p.R298*	MFF_uc002vot.2_Nonsense_Mutation_p.R247*|MFF_uc002vou.2_Nonsense_Mutation_p.R220*|MFF_uc002vov.2_Nonsense_Mutation_p.R194*|MFF_uc002vow.2_Nonsense_Mutation_p.R199*|MFF_uc002vox.2_Nonsense_Mutation_p.R174*|MFF_uc002voy.2_Nonsense_Mutation_p.R298*|MFF_uc002voz.2_Nonsense_Mutation_p.R174*|MFF_uc002vpa.2_Nonsense_Mutation_p.R86*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298	Potential.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1																		---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228680264	228680264	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228680264C>A	uc002vpl.2	+	2	241	c.171C>A	c.(169-171)GGC>GGA	p.G57G	CCL20_uc002vpm.2_Silent_p.G56G	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	57					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)														---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884736	228884736	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228884736T>C	uc002vpq.2	-	7	881	c.834A>G	c.(832-834)ACA>ACG	p.T278T	SPHKAP_uc002vpp.2_Silent_p.T278T|SPHKAP_uc010zlx.1_Silent_p.T278T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	278						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230910760	230910760	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230910760A>G	uc002vqd.1	-	4	1445	c.1082T>C	c.(1081-1083)ATA>ACA	p.I361T	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I361T|SLC16A14_uc002vqf.2_Missense_Mutation_p.I361T	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	361	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230923905	230923905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230923905C>T	uc002vqd.1	-	2	527	c.164G>A	c.(163-165)GGT>GAT	p.G55D	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G55D|SLC16A14_uc002vqf.2_Missense_Mutation_p.G55D	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	55	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231036441	231036441	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231036441T>C	uc002vqh.3	-						SP110_uc002vqg.3_Missense_Mutation_p.S620G	NM_004509	NP_004500			SP110 nuclear body protein isoform a						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231042316	231042316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231042316T>C	uc002vqh.3	-	14	1768	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D	SP110_uc002vqg.3_Missense_Mutation_p.N510D|SP110_uc002vqi.3_Missense_Mutation_p.N510D|SP110_uc010fxk.2_Missense_Mutation_p.N508D|SP110_uc010fxj.2_Missense_Mutation_p.N153D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP140	11262	broad.mit.edu	37	2	231134660	231134660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134660G>A	uc002vql.2	+	14	1551	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.G365D|SP140_uc002vqm.2_Missense_Mutation_p.G419D|SP140_uc010fxl.2_Missense_Mutation_p.G452D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	479					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231193506	231193506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231193506G>A	uc010fxm.1	+	2	158	c.67G>A	c.(67-69)GAG>AAG	p.E23K	SP140_uc010zma.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231253321	231253321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231253321G>T	uc010fxm.1	+	10	923	c.832G>T	c.(832-834)GCT>TCT	p.A278S	SP140L_uc010fxo.1_Missense_Mutation_p.A85S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	278						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231948386	231948386	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231948386T>C	uc002vrn.1	+	14	1762	c.1631T>C	c.(1630-1632)ATT>ACT	p.I544T	PSMD1_uc002vrm.1_Missense_Mutation_p.I544T|PSMD1_uc010fxu.1_Missense_Mutation_p.I408T	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	544	PC 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)													---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231988258	231988258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231988258A>G	uc002vro.2	-	2	726	c.221T>C	c.(220-222)CTT>CCT	p.L74P	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L74P	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	74	Helical; Name=1; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)													---	---	---	---
NCL	4691	broad.mit.edu	37	2	232325554	232325554	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232325554T>A	uc002vru.2	-	4	778	c.637A>T	c.(637-639)ACT>TCT	p.T213S	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	213					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)														---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458471	232458471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232458471A>G	uc002vrz.2	+	1	860	c.809A>G	c.(808-810)AAC>AGC	p.N270S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	270										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)														---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233194691	233194691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233194691C>T	uc010fxz.2	+	15	2184	c.1908C>T	c.(1906-1908)TCC>TCT	p.S636S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	636							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)														---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233274458	233274458	+	Missense_Mutation	SNP	C	T	T	rs138133953	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233274458C>T	uc002vss.3	+	11	1528	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	492					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)													---	---	---	---
ALPI	248	broad.mit.edu	37	2	233322832	233322832	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233322832C>A	uc002vst.3	+	8	1058	c.981C>A	c.(979-981)CTC>CTA	p.L327L	ALPI_uc002vsu.3_Silent_p.L238L	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	327					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)														---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233404465	233404465	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233404465G>T	uc002vsx.1	+	1	29	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CHRNG_uc010fyd.2_Missense_Mutation_p.G3V|CHRNG_uc010fye.1_Missense_Mutation_p.G3V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	3					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)														---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233620987	233620987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233620987G>T	uc002vti.3	+	8	659	c.322G>T	c.(322-324)GGA>TGA	p.G108*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.G108*|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	108	Poly-Gly.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233744335	233744335	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233744335G>A	uc002vts.2	-	15	2245	c.1997C>T	c.(1996-1998)TCC>TTC	p.S666F	NGEF_uc010zmm.1_Missense_Mutation_p.S389F|NGEF_uc010fyg.1_Missense_Mutation_p.S574F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	666	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785033	233785033	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233785033C>T	uc002vts.2	-	5	1037	c.789G>A	c.(787-789)GTG>GTA	p.V263V	NGEF_uc010fyg.1_Silent_p.V171V|NGEF_uc002vtt.2_Silent_p.V171V	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	263	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072495	234072495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234072495G>A	uc010zmo.1	+	11	1536	c.1383G>A	c.(1381-1383)TGG>TGA	p.W461*	INPP5D_uc010zmp.1_Nonsense_Mutation_p.W460*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	461					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)														---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234359623	234359623	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234359623T>C	uc002vui.1	+	17	2106	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	DGKD_uc002vuj.1_Silent_p.S654S|DGKD_uc010fyh.1_Silent_p.S565S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234368890	234368890	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234368890G>A	uc002vui.1	+	24	2892	c.2880G>A	c.(2878-2880)CTG>CTA	p.L960L	DGKD_uc002vuj.1_Silent_p.L916L|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	960				L -> V (in Ref. 1; BAC11809 and 4; BAA11134).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621647	234621647	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621647G>T	uc002vuw.2	+	1	10	c.10G>T	c.(10-12)GGA>TGA	p.G4*	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Nonsense_Mutation_p.G4*	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	4					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621927	234621927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621927C>T	uc002vuw.2	+	1	290	c.290C>T	c.(289-291)ACT>ATT	p.T97I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.T97I	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	97					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236945228	236945228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:236945228A>G	uc002vvs.2	+	14	2264	c.1669A>G	c.(1669-1671)ATC>GTC	p.I557V	AGAP1_uc002vvt.2_Missense_Mutation_p.I504V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	557	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237349774	237349774	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237349774G>A	uc002vvz.1	-						IQCA1_uc002vwb.2_Intron|IQCA1_uc002vwa.1_Intron|IQCA1_uc010zni.1_Intron	NM_024726	NP_079002			IQ motif containing with AAA domain 1								ATP binding			ovary(1)	1																		---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237374169	237374169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237374169C>T	uc002vvz.1	-	6	1087	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	IQCA1_uc002vwb.2_Missense_Mutation_p.R309Q|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R302Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	302							ATP binding			ovary(1)	1																		---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238249610	238249610	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238249610T>A	uc002vwl.2	-	38	8234	c.7949A>T	c.(7948-7950)GAC>GTC	p.D2650V	COL6A3_uc002vwo.2_Missense_Mutation_p.D2444V|COL6A3_uc010znj.1_Missense_Mutation_p.D2043V|COL6A3_uc002vwj.2_Missense_Mutation_p.D31V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2650	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238253585	238253585	+	Silent	SNP	G	A	A	rs114248590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238253585G>A	uc002vwl.2	-	35	7458	c.7173C>T	c.(7171-7173)TAC>TAT	p.Y2391Y	COL6A3_uc002vwo.2_Silent_p.Y2185Y|COL6A3_uc010znj.1_Silent_p.Y1784Y|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.Y212Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2391	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285615	238285615	+	Missense_Mutation	SNP	T	C	C	rs116294003	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285615T>C	uc002vwl.2	-	7	3155	c.2870A>G	c.(2869-2871)GAT>GGT	p.D957G	COL6A3_uc002vwo.2_Missense_Mutation_p.D751G|COL6A3_uc010znj.1_Missense_Mutation_p.D350G|COL6A3_uc002vwq.2_Missense_Mutation_p.D751G|COL6A3_uc002vwr.2_Missense_Mutation_p.D550G|COL6A3_uc010znk.1_Missense_Mutation_p.D757G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	957	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238296676	238296676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238296676G>A	uc002vwl.2	-	4	1146	c.861C>T	c.(859-861)AGC>AGT	p.S287S	COL6A3_uc002vwo.2_Silent_p.S81S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.S81S|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.S287S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	287	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238303419	238303419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238303419C>T	uc002vwl.2	-	3	805	c.520G>A	c.(520-522)GCA>ACA	p.A174T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A174T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	174	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238725827	238725827	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238725827A>C	uc002vxi.3	+	3	400	c.268A>C	c.(268-270)ACA>CCA	p.T90P		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	89							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)														---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238999895	238999895	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238999895G>T	uc010fyv.2	+	8	985	c.921G>T	c.(919-921)AAG>AAT	p.K307N	SCLY_uc002vxm.3_Missense_Mutation_p.K274N|SCLY_uc002vxn.2_Missense_Mutation_p.K307N|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.K213N	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	307					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)														---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239040248	239040248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239040248G>A	uc002vxq.3	+	9	3003	c.2893G>A	c.(2893-2895)GCA>ACA	p.A965T	ESPNL_uc010fyw.2_Missense_Mutation_p.A661T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	965										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)														---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240061373	240061373	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240061373C>T	uc002vyk.3	-						HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc010fyy.2_Intron|HDAC4_uc010znz.1_Intron|HDAC4_uc010fzb.1_Intron	NM_006037	NP_006028			histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)														---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240921645	240921645	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240921645T>C	uc002vyn.2	-							NM_004544	NP_004535			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)													---	---	---	---
OR6B3	150681	broad.mit.edu	37	2	240985382	240985382	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240985382G>A	uc010zoe.1	-	1	108	c.108C>T	c.(106-108)CTC>CTT	p.L36L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)														---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241513717	241513717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241513717G>A	uc002vzi.2	+	5	1026	c.433G>A	c.(433-435)GAG>AAG	p.E145K	RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	145		Zinc; catalytic (By similarity).			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241689868	241689868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241689868G>A	uc002vzy.2	-	26	2798	c.2652C>T	c.(2650-2652)CGC>CGT	p.R884R	KIF1A_uc010fzk.2_Silent_p.R985R|KIF1A_uc002vzz.1_Silent_p.R985R	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	884					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241724522	241724522	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241724522G>T	uc002vzy.2	-						KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron	NM_004321	NP_004312			axonal transport of synaptic vesicles						anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241992711	241992711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241992711A>G	uc002wah.1	+	16	2225	c.2225A>G	c.(2224-2226)CAC>CGC	p.H742R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	742	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242009574	242009574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242009574G>A	uc002wah.1	+	24	3547	c.3547G>A	c.(3547-3549)GGG>AGG	p.G1183R	SNED1_uc002wai.1_Missense_Mutation_p.G418R|SNED1_uc002waj.1_Missense_Mutation_p.G270R|SNED1_uc002wak.2_Missense_Mutation_p.G270R|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1183	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021174	242021174	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021174C>T	uc002wah.1	+	28	3999	c.3999C>T	c.(3997-3999)TGC>TGT	p.C1333C	SNED1_uc002wai.1_Silent_p.C535C|SNED1_uc002waj.1_Silent_p.C387C	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1333	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242122098	242122098	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242122098G>A	uc002wat.1	+	10	958	c.943G>A	c.(943-945)GAC>AAC	p.D315N	PPP1R7_uc002wau.1_Missense_Mutation_p.D272N|PPP1R7_uc002wav.1_Missense_Mutation_p.D241N	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	315	LRR 11.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)														---	---	---	---
BOK	666	broad.mit.edu	37	2	242501857	242501857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242501857G>A	uc002wbq.2	+	3	561	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	105					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)														---	---	---	---
ATG4B	23192	broad.mit.edu	37	2	242593953	242593953	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242593953T>C	uc002wbv.2	+						ATG4B_uc002wbu.2_Intron|ATG4B_uc002wbw.2_Intron|ATG4B_uc010zox.1_Intron|ATG4B_uc010zoy.1_Intron|ATG4B_uc010fzp.2_Intron|ATG4B_uc010zoz.1_Intron	NM_013325	NP_037457			APG4 autophagy 4 homolog B isoform a						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)														---	---	---	---
D2HGDH	728294	broad.mit.edu	37	2	242690780	242690780	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242690780G>A	uc002wce.1	+	8	1290	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.A239T|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.A72T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	373					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)														---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242757513	242757513	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242757513C>T	uc010fzr.2	+	4	680	c.594C>T	c.(592-594)TTC>TTT	p.F198F	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.F198F|NEU4_uc002wcn.1_Silent_p.F210F|NEU4_uc002wco.1_Silent_p.F198F|NEU4_uc002wcp.1_Silent_p.F210F	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262436	1262436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1262436T>A	uc003boz.2	+	3	388	c.121T>A	c.(121-123)TTA>ATA	p.L41I	CNTN6_uc010hbo.2_Missense_Mutation_p.L36I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.L41I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	41	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1369239	1369239	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1369239A>T	uc003boz.2	+	10	1449	c.1182A>T	c.(1180-1182)ATA>ATT	p.I394I	CNTN6_uc011asj.1_Silent_p.I322I|CNTN6_uc003bpa.2_Silent_p.I394I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	394	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427478	1427478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1427478T>C	uc003boz.2	+	20	2968	c.2701T>C	c.(2701-2703)TCT>CCT	p.S901P	CNTN6_uc011asj.1_Missense_Mutation_p.S829P|CNTN6_uc003bpa.2_Missense_Mutation_p.S901P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	901					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1444125	1444125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1444125G>A	uc003boz.2	+	22	3208	c.2941G>A	c.(2941-2943)GGA>AGA	p.G981R	CNTN6_uc011asj.1_Missense_Mutation_p.G909R|CNTN6_uc003bpa.2_Missense_Mutation_p.G981R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	981	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3081933	3081933	+	Silent	SNP	G	A	A	rs150012927		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3081933G>A	uc003bpc.2	+	19	2597	c.2376G>A	c.(2374-2376)ACG>ACA	p.T792T	CNTN4_uc003bpb.1_Silent_p.T463T|CNTN4_uc003bpe.2_Silent_p.T464T|CNTN4_uc003bpf.2_Silent_p.T463T|CNTN4_uc003bpg.2_Silent_p.T48T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	792	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3118291	3118291	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3118291A>G	uc011ask.1	-	11	1659	c.1015T>C	c.(1015-1017)TTG>CTG	p.L339L	IL5RA_uc010hbq.2_Silent_p.L244L|IL5RA_uc010hbr.2_Silent_p.L130L|IL5RA_uc010hbs.2_Silent_p.L339L|IL5RA_uc011asl.1_Silent_p.L339L|IL5RA_uc010hbp.2_Silent_p.L50L	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	339	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192623	3192623	+	Nonsense_Mutation	SNP	G	A	A	rs121918368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192623G>A	uc003bpq.2	-	11	1274	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	CRBN_uc003bpr.2_Nonsense_Mutation_p.R418*|CRBN_uc010hbw.2_Nonsense_Mutation_p.R375*	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	419	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192649	3192649	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192649G>A	uc003bpq.2	-	11	1248	c.1229C>T	c.(1228-1230)TCA>TTA	p.S410L	CRBN_uc003bpr.2_Missense_Mutation_p.S409L|CRBN_uc010hbw.2_Missense_Mutation_p.S366L	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	410	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887314	3887314	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887314G>A	uc003bpt.3	+	2	1750	c.989G>A	c.(988-990)CGC>CAC	p.R330H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	330	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887411T>A	uc003bpt.3	+	2	1847	c.1086T>A	c.(1084-1086)AAT>AAA	p.N362K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	362	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3888210	3888210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3888210A>G	uc003bpt.3	+	2	2646	c.1885A>G	c.(1885-1887)AGT>GGT	p.S629G	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	629	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4558230	4558230	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4558230G>A	uc003bqa.2	+	3	403	c.55G>A	c.(55-57)GCG>ACG	p.A19T	ITPR1_uc010hbz.2_Missense_Mutation_p.A19T|ITPR1_uc010hca.1_Missense_Mutation_p.A19T|ITPR1_uc011asu.1_Missense_Mutation_p.A19T|ITPR1_uc010hcb.1_Missense_Mutation_p.A19T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	19	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4687267	4687267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4687267G>A	uc003bqa.2	+	10	1058	c.710G>A	c.(709-711)GGT>GAT	p.G237D	ITPR1_uc010hbz.2_Missense_Mutation_p.G237D|ITPR1_uc010hca.1_Missense_Mutation_p.G237D|ITPR1_uc011asu.1_Missense_Mutation_p.G237D|ITPR1_uc010hcb.1_Missense_Mutation_p.G237D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	237	MIR 3.|Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4715020	4715020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4715020T>C	uc003bqa.2	+	21	2753	c.2405T>C	c.(2404-2406)GTG>GCG	p.V802A	ITPR1_uc010hca.1_Missense_Mutation_p.V787A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.V787A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	802	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4842131	4842131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4842131G>A	uc003bqa.2	+	51	7158	c.6810G>A	c.(6808-6810)TCG>TCA	p.S2270S	ITPR1_uc010hca.1_Silent_p.S2255S|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.S1240S|ITPR1_uc010hcc.1_Silent_p.S38S|ITPR1_uc011asv.1_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2318	Helical; (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903101	6903101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:6903101G>A	uc003bqm.2	+	1	300	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R9H|GRM7_uc003bql.2_Missense_Mutation_p.R9H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	9					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---
LMCD1	29995	broad.mit.edu	37	3	8590426	8590426	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8590426A>G	uc003bqq.2	+	4	674	c.560A>G	c.(559-561)AAG>AGG	p.K187R	LMCD1_uc011atd.1_Missense_Mutation_p.K114R|LMCD1_uc011ate.1_Missense_Mutation_p.K75R|LMCD1_uc011atf.1_Missense_Mutation_p.K114R	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	187	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)														---	---	---	---
C3orf32	51066	broad.mit.edu	37	3	8673737	8673737	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8673737G>A	uc003bqu.2	-	5	578	c.332C>T	c.(331-333)ACT>ATT	p.T111I	C3orf32_uc003bqz.2_Missense_Mutation_p.T111I|C3orf32_uc003bqt.2_Missense_Mutation_p.T60I|C3orf32_uc011atg.1_Missense_Mutation_p.T133I|C3orf32_uc003bqv.2_Missense_Mutation_p.T60I|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.T111I	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	111										skin(1)	1																		---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794806	8794806	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794806G>A	uc003brc.2	-	4	1649	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	343	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794893	8794893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794893C>T	uc003brc.2	-	4	1562	c.940G>A	c.(940-942)GTC>ATC	p.V314I		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	314	Helical; Name=7; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8809641	8809641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8809641A>G	uc003brc.2	-	3	855	c.233T>C	c.(232-234)ATG>ACG	p.M78T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	78	Helical; Name=2; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517581	9517581	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9517581A>G	uc003brt.2	+	23	4570	c.4135A>G	c.(4135-4137)AGG>GGG	p.R1379G	SETD5_uc003bru.2_Missense_Mutation_p.R1281G|SETD5_uc003brv.2_Missense_Mutation_p.R1268G|SETD5_uc010hck.2_Missense_Mutation_p.R861G|SETD5_uc003brx.2_Missense_Mutation_p.R1048G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1379	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---
CPNE9	151835	broad.mit.edu	37	3	9746317	9746317	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9746317C>T	uc003bsd.2	+							NM_153635	NP_705899			copine-like protein											ovary(2)	2	Medulloblastoma(99;0.227)																	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9959109	9959109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9959109G>A	uc003bua.2	+	1	346	c.110G>A	c.(109-111)AGT>AAT	p.S37N	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_Intron|IL17RC_uc011ato.1_Intron|IL17RC_uc010hcs.2_Intron|IL17RC_uc003btz.2_Intron|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Intron|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Intron|IL17RC_uc011atq.1_Intron|IL17RC_uc003buc.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	37	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991568	9991568	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9991568C>T	uc003bul.2	-	2	362	c.232G>A	c.(232-234)GCC>ACC	p.A78T	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.A78T	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	78	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10091175	10091175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10091175G>A	uc003buw.2	+	17	1609	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	FANCD2_uc003bux.1_Missense_Mutation_p.A511T|FANCD2_uc003buy.1_Missense_Mutation_p.A511T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	511					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10130195	10130195	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10130195A>G	uc003buw.2	+	35	3607	c.3529A>G	c.(3529-3531)ATC>GTC	p.I1177V	FANCD2_uc003bux.1_Missense_Mutation_p.I1177V|FANCD2_uc003buy.1_Missense_Mutation_p.I1177V|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1177					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10264468	10264468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10264468C>T	uc003bve.1	+	9	1238	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8																		---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10491114	10491114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10491114C>T	uc003bvt.2	-	2	553	c.114G>A	c.(112-114)CGG>CGA	p.R38R	ATP2B2_uc003bvv.2_Silent_p.R38R|ATP2B2_uc003bvw.2_Silent_p.R38R|ATP2B2_uc010hdp.2_Silent_p.R38R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	38	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11302082	11302082	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11302082C>T	uc010hdr.2	+	2	1701	c.1359C>T	c.(1357-1359)ACC>ACT	p.T453T	HRH1_uc010hds.2_Silent_p.T453T|HRH1_uc010hdt.2_Silent_p.T453T|HRH1_uc003bwb.3_Silent_p.T453T	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	453	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11402269	11402269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11402269T>C	uc003bwc.2	+						ATG7_uc003bwd.2_Intron|ATG7_uc011aum.1_Intron	NM_006395	NP_006386			APG7 autophagy 7-like isoform a						autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---
VGLL4	9686	broad.mit.edu	37	3	11643487	11643487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11643487G>T	uc003bwf.2	-	3	440	c.74C>A	c.(73-75)GCT>GAT	p.A25D	VGLL4_uc010hdx.1_Missense_Mutation_p.A31D|VGLL4_uc003bwg.2_Missense_Mutation_p.A30D|VGLL4_uc011aun.1_5'UTR	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)														---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12632428	12632428	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12632428T>G	uc003bxf.3	-	12	1654	c.1239A>C	c.(1237-1239)ACA>ACC	p.T413T	RAF1_uc011aut.1_Silent_p.T198T|RAF1_uc011auu.1_Silent_p.T331T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	413	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12641249	12641249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12641249A>G	uc003bxf.3	-	10	1464	c.1049T>C	c.(1048-1050)ATG>ACG	p.M350T	RAF1_uc011aut.1_Missense_Mutation_p.M135T|RAF1_uc011auu.1_Missense_Mutation_p.M268T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	350	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12783956	12783956	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12783956C>A	uc003bxg.1	-	5	479	c.352G>T	c.(352-354)GGA>TGA	p.G118*	TMEM40_uc003bxh.1_Nonsense_Mutation_p.G88*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.G42*|TMEM40_uc011auv.1_Nonsense_Mutation_p.G134*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	118						integral to membrane					0																		---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12858333	12858333	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12858333T>C	uc003bxk.2	+	10	1951	c.1902T>C	c.(1900-1902)CTT>CTC	p.L634L	CAND2_uc003bxj.2_Silent_p.L541L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	634	HEAT 13.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12944311	12944311	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12944311G>A	uc003bxt.2	-	13	2818	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Missense_Mutation_p.R923C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	937					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12977116	12977116	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12977116T>C	uc003bxt.2	-	3	1451	c.1442A>G	c.(1441-1443)GAT>GGT	p.D481G	IQSEC1_uc003bxu.3_Missense_Mutation_p.D359G|IQSEC1_uc011auw.1_Missense_Mutation_p.D467G	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	481					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13363106	13363106	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13363106C>T	uc003bxv.1	-	36	5228	c.5145G>A	c.(5143-5145)CCG>CCA	p.P1715P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1715	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13370369	13370369	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13370369C>T	uc003bxv.1	-	31	4271	c.4188G>A	c.(4186-4188)GTG>GTA	p.V1396V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1396	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14545130	14545130	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14545130C>A	uc011avi.1	-	22	2917	c.2917G>T	c.(2917-2919)GAA>TAA	p.E973*	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Nonsense_Mutation_p.E504*	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	875					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
C3orf19	51244	broad.mit.edu	37	3	14708358	14708358	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14708358A>G	uc003byw.2	+	7	719	c.628A>G	c.(628-630)AGA>GGA	p.R210G	C3orf19_uc010hei.1_Missense_Mutation_p.R210G|C3orf19_uc010hej.2_Missense_Mutation_p.R115G	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	210											0																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14949150	14949150	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14949150A>G	uc003bzc.2	+	10	3378	c.3268A>G	c.(3268-3270)AAC>GAC	p.N1090D	FGD5_uc011avk.1_Missense_Mutation_p.N1090D|FGD5_uc003bzd.2_Missense_Mutation_p.N168D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1090					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960286	14960286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960286T>C	uc003bzc.2	+	13	3625	c.3515T>C	c.(3514-3516)GTG>GCG	p.V1172A	FGD5_uc011avk.1_Missense_Mutation_p.V1172A|FGD5_uc003bzd.2_Missense_Mutation_p.V250A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1172	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960290	14960290	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960290C>A	uc003bzc.2	+	13	3629	c.3519C>A	c.(3517-3519)CCC>CCA	p.P1173P	FGD5_uc011avk.1_Silent_p.P1173P|FGD5_uc003bzd.2_Silent_p.P251P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1173	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14967691	14967691	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14967691T>C	uc003bzc.2	+	18	4293	c.4183T>C	c.(4183-4185)TAC>CAC	p.Y1395H	FGD5_uc011avk.1_Intron|FGD5_uc003bzd.2_Missense_Mutation_p.Y473H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1395	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094115	15094115	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15094115C>T	uc003bzl.2	-	4	470	c.355G>A	c.(355-357)GAG>AAG	p.E119K	MRPS25_uc011avl.1_Silent_p.R89R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116040	15116040	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116040T>A	uc003bzm.1	-	14	2218	c.1604A>T	c.(1603-1605)GAG>GTG	p.E535V	ZFYVE20_uc010hek.1_Missense_Mutation_p.E535V	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	535	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116197	15116197	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116197G>T	uc003bzm.1	-	14	2061	c.1447C>A	c.(1447-1449)CGC>AGC	p.R483S	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15127366	15127366	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15127366A>G	uc003bzm.1	-	6	1004	c.390_splice	c.e6+1	p.K130_splice	ZFYVE20_uc010hek.1_Splice_Site_p.K130_splice|ZFYVE20_uc011avn.1_Splice_Site_p.K130_splice	NM_022340	NP_071735			FYVE-finger-containing Rab5 effector protein						blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15731544	15731544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15731544T>C	uc003caj.1	-	18	1998	c.1855A>G	c.(1855-1857)ACA>GCA	p.T619A	ANKRD28_uc003cai.1_Missense_Mutation_p.T465A|ANKRD28_uc011avz.1_Missense_Mutation_p.T465A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T649A|ANKRD28_uc003cam.2_Missense_Mutation_p.T652A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	619	ANK 18.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15753728	15753728	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15753728G>A	uc003caj.1	-	11	1245	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	ANKRD28_uc003cai.1_Missense_Mutation_p.R214C|ANKRD28_uc011avz.1_Missense_Mutation_p.R214C|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.R398C|ANKRD28_uc003cam.2_Missense_Mutation_p.R401C	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	368						nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16260950	16260950	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16260950G>T	uc003car.3	+	7	1908	c.1433G>T	c.(1432-1434)AGG>ATG	p.R478M	GALNTL2_uc003caq.3_Missense_Mutation_p.R211M|GALNTL2_uc003cas.3_Missense_Mutation_p.R8M	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	478	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16261424	16261424	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16261424A>C	uc003car.3	+	8	2007	c.1532A>C	c.(1531-1533)AAC>ACC	p.N511T	GALNTL2_uc003caq.3_Missense_Mutation_p.N244T|GALNTL2_uc003cas.3_Missense_Mutation_p.N41T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17053060	17053060	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17053060G>T	uc011awc.1	+	5	2303	c.2198G>T	c.(2197-2199)AGC>ATC	p.S733I	PLCL2_uc011awd.1_Missense_Mutation_p.S615I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	741	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17202688	17202688	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17202688A>G	uc003cbf.2	-	22	3820	c.2155T>C	c.(2155-2157)TCC>CCC	p.S719P	TBC1D5_uc010heu.2_Missense_Mutation_p.S306P|TBC1D5_uc010hev.2_Missense_Mutation_p.S741P|TBC1D5_uc003cbe.2_Missense_Mutation_p.S719P	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	719						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17549984	17549984	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17549984A>G	uc003cbf.2	-	3	1744	c.79T>C	c.(79-81)TAC>CAC	p.Y27H	TBC1D5_uc010hev.2_Missense_Mutation_p.Y27H|TBC1D5_uc003cbe.2_Missense_Mutation_p.Y27H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	27						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18456661	18456661	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18456661T>G	uc003cbh.2	-	5	2316	c.581A>C	c.(580-582)AAG>ACG	p.K194T	SATB1_uc003cbi.2_Missense_Mutation_p.K194T|SATB1_uc003cbj.2_Missense_Mutation_p.K194T	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	194	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19389261	19389261	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19389261T>C	uc003cbk.1	+	5	810	c.615T>C	c.(613-615)TCT>TCC	p.S205S	KCNH8_uc011awe.1_Silent_p.S205S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554610	19554610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19554610G>T	uc003cbk.1	+	13	2423	c.2228G>T	c.(2227-2229)GGA>GTA	p.G743V	KCNH8_uc010hex.1_Missense_Mutation_p.G204V	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	743	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19559491	19559491	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19559491T>A	uc003cbk.1	+	15	2739	c.2544T>A	c.(2542-2544)GAT>GAA	p.D848E	KCNH8_uc010hex.1_Missense_Mutation_p.D309E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19575180	19575180	+	Silent	SNP	A	G	G	rs145364018		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19575180A>G	uc003cbk.1	+	16	3108	c.2913A>G	c.(2911-2913)CAA>CAG	p.Q971Q	KCNH8_uc010hex.1_Silent_p.Q432Q	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	971	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19959879	19959879	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19959879G>T	uc003cbl.3	-	4	1218	c.1022C>A	c.(1021-1023)CCT>CAT	p.P341H	EFHB_uc003cbm.2_Missense_Mutation_p.P211H	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	341					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---
RAB5A	5868	broad.mit.edu	37	3	20017562	20017562	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20017562T>A	uc003cbn.2	+	4	874	c.339T>A	c.(337-339)AAT>AAA	p.N113K	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.N99K	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	113					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0																		---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20164248	20164248	+	Silent	SNP	C	T	T	rs149881135		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20164248C>T	uc003cbq.2	+	9	1811	c.1365C>T	c.(1363-1365)AAC>AAT	p.N455N		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	455					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
NKIRAS1	28512	broad.mit.edu	37	3	23952357	23952357	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23952357T>A	uc003ccj.2	-	3	441	c.39A>T	c.(37-39)TTA>TTT	p.L13F	NKIRAS1_uc003cck.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccl.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccm.2_Missense_Mutation_p.L13F	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	13	GTP (By similarity).				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0																		---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24003739	24003739	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24003739T>A	uc003ccs.2	+	5	1108	c.789T>A	c.(787-789)GAT>GAA	p.D263E	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.D188E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3																		---	---	---	---
THRB	7068	broad.mit.edu	37	3	24193924	24193924	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24193924G>C	uc003ccx.3	-	6	690	c.341C>G	c.(340-342)GCC>GGC	p.A114G	THRB_uc010hfe.2_Missense_Mutation_p.A114G|THRB_uc003ccy.3_Missense_Mutation_p.A114G|THRB_uc003ccz.3_Missense_Mutation_p.A109G|THRB_uc003cdc.2_Missense_Mutation_p.A109G|THRB_uc003cdd.2_Missense_Mutation_p.A109G|THRB_uc003cde.1_Missense_Mutation_p.A109G|THRB_uc003cda.1_Missense_Mutation_p.A129G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	114	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25215993	25215993	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25215993A>T	uc011awl.1	+	1	171	c.105A>T	c.(103-105)GGA>GGT	p.G35G		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	35	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25502818	25502818	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25502818T>A	uc011awl.1	+	2	379	c.313T>A	c.(313-315)TGT>AGT	p.C105S	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.C98S	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	105	NR C4-type.|Nuclear receptor.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25641012	25641012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25641012G>A	uc003cdj.2	-	35	4609	c.4609C>T	c.(4609-4611)CGA>TGA	p.R1537*	TOP2B_uc011awm.1_Nonsense_Mutation_p.R394*|TOP2B_uc010hff.1_Nonsense_Mutation_p.R403*	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1542					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685185	25685185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685185C>T	uc011awn.1	-	3	374	c.331G>A	c.(331-333)GTT>ATT	p.V111I	TOP2B_uc003cdj.2_Missense_Mutation_p.V106I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	111					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685220	25685220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685220A>G	uc011awn.1	-	3	339	c.296T>C	c.(295-297)GTG>GCG	p.V99A	TOP2B_uc003cdj.2_Missense_Mutation_p.V94A	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	99					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25778951	25778951	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25778951T>G	uc003cdl.2	-						NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Intron|NGLY1_uc011awo.1_Intron|NGLY1_uc003cdk.2_Intron	NM_018297	NP_060767			N-glycanase 1 isoform 1						glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27204208	27204208	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27204208T>A	uc010hfk.2	-	9	1018	c.789A>T	c.(787-789)GGA>GGT	p.G263G	NEK10_uc003cds.1_Silent_p.G348G|NEK10_uc010hfj.2_Silent_p.G263G			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	951							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27243079	27243079	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27243079A>G	uc010hfk.2	-						NEK10_uc003cds.1_Intron|NEK10_uc010hfj.2_Intron					RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28454686	28454686	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28454686T>C	uc003ceh.2	+	3	295	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZCWPW2_uc003cei.2_Silent_p.L43L	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	43	CW-type.						zinc ion binding			ovary(2)	2																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28566019	28566019	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28566019T>C	uc003ceh.2	+	10	1079	c.911T>C	c.(910-912)TTA>TCA	p.L304S	ZCWPW2_uc003cei.2_Missense_Mutation_p.L304S|ZCWPW2_uc010hfo.2_Missense_Mutation_p.L109S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	304							zinc ion binding			ovary(2)	2																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30691806	30691806	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30691806A>G	uc003ceo.2	+	3	690	c.308A>G	c.(307-309)GAC>GGC	p.D103G	TGFBR2_uc003cen.2_Missense_Mutation_p.D128G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	103	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713436	30713436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30713436G>A	uc003ceo.2	+	4	1143	c.761G>A	c.(760-762)CGC>CAC	p.R254H	TGFBR2_uc003cen.2_Missense_Mutation_p.R279H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	254	Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
STT3B	201595	broad.mit.edu	37	3	31621492	31621492	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31621492T>C	uc011axe.1	+	3	615	c.615T>C	c.(613-615)ATT>ATC	p.I205I	STT3B_uc010hft.1_Silent_p.I205I|STT3B_uc003cer.1_Silent_p.I205I	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	205	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0																		---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710251	31710251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31710251T>C	uc003cev.2	-	11	2360	c.1979A>G	c.(1978-1980)AAT>AGT	p.N660S	OSBPL10_uc003ceu.1_Missense_Mutation_p.N417S|OSBPL10_uc011axf.1_Missense_Mutation_p.N596S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	660					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483359	32483359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483359G>A	uc003cey.1	+	2	423	c.187G>A	c.(187-189)GTG>ATG	p.V63M	CMTM7_uc003cez.1_Missense_Mutation_p.V63M	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	63	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483389	32483389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483389G>A	uc003cey.1	+	2	453	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CMTM7_uc003cez.1_Missense_Mutation_p.A73T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	73	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32493939	32493939	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32493939A>C	uc003cey.1	+	4	724	c.488A>C	c.(487-489)AAG>ACG	p.K163T	CMTM7_uc003cez.1_Missense_Mutation_p.K130T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	163	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CNOT10	25904	broad.mit.edu	37	3	32769230	32769230	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32769230T>C	uc003cfc.1	+	10	1338	c.1083T>C	c.(1081-1083)TGT>TGC	p.C361C	CNOT10_uc011axi.1_Silent_p.C133C|CNOT10_uc003cfd.1_Silent_p.C360C|CNOT10_uc003cfe.1_Silent_p.C361C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Silent_p.C421C|CNOT10_uc010hfw.1_Silent_p.C56C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	361					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859684	32859684	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859686	32859686	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859686G>A	uc003cff.2	+	1	177	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
FBXL2	25827	broad.mit.edu	37	3	33425581	33425581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33425581G>A	uc003cfp.2	+	14	1123	c.1052G>A	c.(1051-1053)TGC>TAC	p.C351Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C246Y|FBXL2_uc011axp.1_Missense_Mutation_p.C267Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	351	LRR 12.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1																		---	---	---	---
UBP1	7342	broad.mit.edu	37	3	33450175	33450175	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33450175C>T	uc003cfq.3	-						UBP1_uc003cfr.3_Intron|UBP1_uc010hga.2_Intron	NM_014517	NP_055332			upstream binding protein 1 (LBP-1a) isoform a						negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33617771	33617771	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33617771A>G	uc003cfu.2	-						CLASP2_uc003cfs.2_5'Flank|CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc011axt.1_Intron	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33725942	33725942	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33725942C>T	uc003cfu.2	-	6	907	c.553G>A	c.(553-555)GAT>AAT	p.D185N	CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	185										ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866819	33866819	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33905536	33905536	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33905536C>A	uc003cfx.2	+	16	2314	c.2159C>A	c.(2158-2160)CCT>CAT	p.P720H	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P725H|PDCD6IP_uc011axw.1_Missense_Mutation_p.P501H	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	720	Pro-rich.|Interaction with EIAV p9.|Interaction with TSG101.|Self-association.			P->L: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6.	apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35724392	35724392	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35724392T>A	uc003cgb.2	+						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cfz.2_Intron|ARPP21_uc003cgc.2_Intron|ARPP21_uc003cgd.2_Intron|ARPP21_uc011axx.1_Intron|ARPP21_uc003cge.2_Intron	NM_016300	NP_057384			cyclic AMP-regulated phosphoprotein, 21 kD							cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35780864	35780864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35780864G>A	uc003cgb.2	+	17	1964	c.1700G>A	c.(1699-1701)GGG>GAG	p.G567E	ARPP21_uc003cga.2_Missense_Mutation_p.G548E|ARPP21_uc011axy.1_Missense_Mutation_p.G568E|ARPP21_uc003cgf.2_Missense_Mutation_p.G403E|ARPP21_uc003cgg.2_Missense_Mutation_p.G90E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	567	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36422210	36422210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36422210G>A	uc003cgh.1	+	1	114	c.75G>A	c.(73-75)CCG>CCA	p.P25P	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.P25P	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36547271	36547271	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36547271A>G	uc003cgh.1	+	8	904	c.865A>G	c.(865-867)ACC>GCC	p.T289A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.T228A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	289	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36779103	36779103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36779103C>T	uc003cgi.2	-	2	1539	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	350						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872603	36872603	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36872603A>G	uc003cgj.2	-	12	6991	c.6689T>C	c.(6688-6690)CTA>CCA	p.L2230P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2780					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36873305C>T	uc003cgj.2	-	12	6289	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36893684	36893684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36893684G>A	uc003cgj.2	-	4	3222	c.2920C>T	c.(2920-2922)CGA>TGA	p.R974*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1524					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034495	37034495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37034495C>T	uc003cgk.2	-	1	301	c.74G>A	c.(73-75)CGT>CAT	p.R25H	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	25						endoplasmic reticulum					0																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37095362	37095362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37095362C>T	uc003cgp.2	-	29	2569	c.2146G>A	c.(2146-2148)GCA>ACA	p.A716T	MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.A498T|LRRFIP2_uc003cgr.2_Missense_Mutation_p.A419T|LRRFIP2_uc003cgs.3_Missense_Mutation_p.A419T|LRRFIP2_uc003cgt.3_Missense_Mutation_p.A395T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	716					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37107356	37107356	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37107356A>G	uc003cgp.2	-	24	2067	c.1644T>C	c.(1642-1644)ACT>ACC	p.T548T	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Silent_p.T330T|LRRFIP2_uc003cgr.2_Silent_p.T251T|LRRFIP2_uc003cgs.3_Silent_p.T251T|LRRFIP2_uc003cgt.3_Silent_p.T227T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	548					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37365710	37365710	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37365710A>C	uc003cgv.2	+	14	2637	c.2333A>C	c.(2332-2334)CAT>CCT	p.H778P	GOLGA4_uc010hgr.1_Missense_Mutation_p.H339P|GOLGA4_uc003cgw.2_Missense_Mutation_p.H800P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.H659P	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	778	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37826552	37826552	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37826552A>G	uc003chd.2	+	26	2925	c.2872A>G	c.(2872-2874)AAC>GAC	p.N958D		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	958	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37845374	37845374	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37845374G>A	uc003chd.2	+	27	3003	c.2950G>A	c.(2950-2952)GCC>ACC	p.A984T		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	984	Helical; (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38042991	38042991	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38042991G>T	uc003chj.2	+	12	1513	c.1227G>T	c.(1225-1227)AAG>AAT	p.K409N	VILL_uc003chl.2_Missense_Mutation_p.K409N|VILL_uc010hgu.2_Missense_Mutation_p.K239N	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	409	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38048554	38048554	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38048554C>T	uc003chj.2	+	20					VILL_uc003chl.2_3'UTR	NM_015873	NP_056957			villin-like protein						actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38080868	38080868	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38080868A>G	uc003cho.1	+	1	173	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	DLEC1_uc003chp.1_Missense_Mutation_p.Y51C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y51C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	51					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38125678	38125678	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38125678G>A	uc003cho.1	+	7	1224	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	DLEC1_uc003chp.1_Silent_p.T401T|DLEC1_uc010hgv.1_Silent_p.T401T|DLEC1_uc010hgw.1_Silent_p.T100T|DLEC1_uc003chq.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	401					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38153716	38153716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38153716T>C	uc003cho.1	+	25	3551	c.3530T>C	c.(3529-3531)ATG>ACG	p.M1177T	DLEC1_uc003chp.1_Missense_Mutation_p.M1177T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1180T|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1177					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158779	38158779	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38158779C>T	uc003cho.1	+	31	4407	c.4386C>T	c.(4384-4386)TAC>TAT	p.Y1462Y	DLEC1_uc003chp.1_Silent_p.Y1462Y|DLEC1_uc010hgv.1_Silent_p.Y1465Y|DLEC1_uc003chr.1_Silent_p.Y533Y|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_Translation_Start_Site	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1462					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38173487	38173487	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38173487C>T	uc003cht.2	-	4	540	c.333G>A	c.(331-333)CCG>CCA	p.P111P	ACAA1_uc003chu.2_Silent_p.P111P|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Silent_p.P111P|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)												OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38292940	38292940	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38292940C>T	uc003chy.2	+	16	1764	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	OXSR1_uc010hhb.2_Silent_p.V408V	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	474					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38415972	38415972	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38415972A>T	uc003cic.2	+	11	976	c.867A>T	c.(865-867)AGA>AGT	p.R289S	XYLB_uc011ayp.1_Missense_Mutation_p.R152S|XYLB_uc003cid.1_Missense_Mutation_p.R211S	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	289					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)														---	---	---	---
ACVR2B	93	broad.mit.edu	37	3	38523762	38523762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38523762G>A	uc003cif.2	+	9	1172	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	ACVR2B_uc003cig.2_Missense_Mutation_p.R174H	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	383	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)														---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38591817	38591817	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38591817C>T	uc003cio.2	-	28	6240	c.6046G>A	c.(6046-6048)GTG>ATG	p.V2016M	SCN5A_uc003cin.2_Missense_Mutation_p.V2015M|SCN5A_uc003cil.3_Missense_Mutation_p.V2016M|SCN5A_uc010hhi.2_Missense_Mutation_p.V1998M|SCN5A_uc010hhk.2_Missense_Mutation_p.V1983M|SCN5A_uc011ayr.1_Missense_Mutation_p.V1962M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2016					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38596019	38596019	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38596019A>T	uc003cio.2	-	27	4758	c.4564T>A	c.(4564-4566)TTC>ATC	p.F1522I	SCN5A_uc003cin.2_Missense_Mutation_p.F1521I|SCN5A_uc003cil.3_Missense_Mutation_p.F1522I|SCN5A_uc010hhi.2_Missense_Mutation_p.F1504I|SCN5A_uc010hhk.2_Missense_Mutation_p.F1521I|SCN5A_uc011ayr.1_Missense_Mutation_p.F1468I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38649682	38649682	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38649682T>C	uc003cio.2	-	8	1152	c.958A>G	c.(958-960)ACC>GCC	p.T320A	SCN5A_uc003cin.2_Missense_Mutation_p.T320A|SCN5A_uc003cil.3_Missense_Mutation_p.T320A|SCN5A_uc010hhi.2_Missense_Mutation_p.T320A|SCN5A_uc010hhk.2_Missense_Mutation_p.T320A|SCN5A_uc011ayr.1_Missense_Mutation_p.T320A|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	320					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38753796	38753796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38753796A>G	uc003ciq.2	-	22	3945	c.3945T>C	c.(3943-3945)GAT>GAC	p.D1315D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1315	III.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798267	38798267	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798267G>C	uc003ciq.2	-	9	1188	c.1188C>G	c.(1186-1188)GTC>GTG	p.V396V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	396	Helical; Name=S6 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38908837	38908837	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38908837T>A	uc011ays.1	-	23	4125	c.3926A>T	c.(3925-3927)GAC>GTC	p.D1309V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1309	III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38951553	38951553	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38951553T>A	uc011ays.1	-							NM_014139	NP_054858			sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
GORASP1	64689	broad.mit.edu	37	3	39144266	39144266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39144266A>G	uc003ciw.1	-	3	349	c.251T>C	c.(250-252)GTG>GCG	p.V84A	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	84					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228564	39228564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39228564G>A	uc003cjk.1	-	2	2594	c.2373C>T	c.(2371-2373)CTC>CTT	p.L791L	XIRP1_uc003cji.2_Silent_p.L791L|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	791							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230227	39230227	+	Missense_Mutation	SNP	G	A	A	rs35083720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230227G>A	uc003cjk.1	-	2	931	c.710C>T	c.(709-711)ACG>ATG	p.T237M	XIRP1_uc003cji.2_Missense_Mutation_p.T237M|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230238	39230238	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230238C>A	uc003cjk.1	-	2	920	c.699G>T	c.(697-699)AAG>AAT	p.K233N	XIRP1_uc003cji.2_Missense_Mutation_p.K233N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	233	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307504	39307504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39307504A>G	uc003cjl.2	-	2	589	c.497T>C	c.(496-498)ATG>ACG	p.M166T		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	166	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)														---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39433000	39433000	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39433000C>T	uc003cjo.2	+	4	746	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	115					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40456320	40456320	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40456320A>G	uc003ckd.3	+	6	678	c.586A>G	c.(586-588)AAT>GAT	p.N196D	ENTPD3_uc010hhy.2_Missense_Mutation_p.N196D|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	196	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)														---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41279570	41279570	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41279570A>T	uc010hia.1	+						CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895			beta-catenin						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41607557	41607557	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41607557A>G	uc003ckv.3	-	32	3386	c.3185T>C	c.(3184-3186)GTT>GCT	p.V1062A		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1062	HEAT 3.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242337	42242337	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42242337A>G	uc003cky.2	+	12	1434	c.1218A>G	c.(1216-1218)GTA>GTG	p.V406V	TRAK1_uc011azh.1_Silent_p.V406V|TRAK1_uc011azi.1_Silent_p.V406V|TRAK1_uc003ckz.3_Silent_p.V332V|TRAK1_uc011azj.1_Silent_p.V332V|TRAK1_uc003cla.2_Silent_p.V348V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	406	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42576474	42576474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42576474G>A	uc003clf.2	+	11	1142	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	VIPR1_uc011azl.1_Missense_Mutation_p.A292T|VIPR1_uc011azm.1_Missense_Mutation_p.A130T|VIPR1_uc011azn.1_Missense_Mutation_p.A313T|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	340	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42577688	42577688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42577688G>A	uc003clf.2	+	13	1413	c.1289G>A	c.(1288-1290)TGC>TAC	p.C430Y	VIPR1_uc011azl.1_Missense_Mutation_p.C382Y|VIPR1_uc011azm.1_Missense_Mutation_p.C220Y|VIPR1_uc011azn.1_Missense_Mutation_p.C403Y|VIPR1_uc003clg.2_Missense_Mutation_p.C75Y	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	430	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42672811	42672811	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42672811A>G	uc003clo.2	+						NKTR_uc003clm.1_Intron|NKTR_uc003clp.2_Intron|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Intron|NKTR_uc003clr.1_Intron|NKTR_uc003cls.2_Intron	NM_005385	NP_005376			natural killer-tumor recognition sequence						protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679032	42679032	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42679032C>T	uc003clo.2	+	13	1983	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	NKTR_uc003clm.1_Silent_p.D359D|NKTR_uc003clp.2_Silent_p.D359D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.D502D|NKTR_uc003clr.1_Silent_p.D359D|NKTR_uc003cls.2_Silent_p.D312D	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	612					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42916705	42916705	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42916705A>T	uc003cmh.2	-	1	929	c.604T>A	c.(604-606)TTA>ATA	p.L202I	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.L202I	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	202					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42917312	42917312	+	Translation_Start_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42917312T>C	uc003cmh.2	-	1	322	c.-3A>G	c.(-5--1)ATAGC>ATGGC		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Translation_Start_Site	NM_004391	NP_004382			cytochrome P450, family 8, subfamily B,						bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
ZNF662	389114	broad.mit.edu	37	3	42956105	42956105	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42956105T>C	uc003cmi.2	+	5	892	c.540T>C	c.(538-540)GGT>GGC	p.G180G	ZNF662_uc003cmk.2_Silent_p.G206G|ZNF662_uc003cmj.2_Silent_p.G72G	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43344905	43344905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43344905G>A	uc003cms.3	+	3	542	c.210G>A	c.(208-210)GTG>GTA	p.V70V	SNRK_uc003cmt.3_Silent_p.V70V|SNRK_uc010hik.2_Silent_p.V70V|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Silent_p.V70V	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	70	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43389110	43389110	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43389110G>A	uc003cms.3	+	7	1691	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E	SNRK_uc003cmt.3_Silent_p.E453E|SNRK_uc010hik.2_Silent_p.E453E|SNRK_uc011azr.1_Silent_p.E247E	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	453					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
ZNF445	353274	broad.mit.edu	37	3	44492035	44492035	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44492035T>A	uc003cnf.2	-	6	1072	c.724A>T	c.(724-726)ACC>TCC	p.T242S	ZNF445_uc011azv.1_Missense_Mutation_p.T230S|ZNF445_uc011azw.1_Missense_Mutation_p.T242S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	242	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)														---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685375	44685375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44685375T>G	uc003cnm.2	+	6	2959	c.2753T>G	c.(2752-2754)GTT>GGT	p.V918G	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	918	C2H2-type 20.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44692631	44692631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44692631A>G	uc003cnq.2	+	2	293	c.72A>G	c.(70-72)GAA>GAG	p.E24E	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	T	T	rs148645131		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44701410C>T	uc003cnq.2	+	4	1776	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	ZNF35_uc003cnr.2_Nonsense_Mutation_p.R359*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	519	C2H2-type 11.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45527224	45527224	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45527224G>T	uc003cop.1	+	11	1244	c.1059G>T	c.(1057-1059)CAG>CAT	p.Q353H	LARS2_uc010hit.1_Missense_Mutation_p.Q310H	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	353					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)													---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	45972594	45972594	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45972594T>C	uc003cpb.3	-	16	4426	c.4220A>G	c.(4219-4221)GAG>GGG	p.E1407G	FYCO1_uc011bal.1_Missense_Mutation_p.E1427G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1407	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46000895	46000895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46000895G>A	uc003cpb.3	-	12	3783	c.3577C>T	c.(3577-3579)CAC>TAC	p.H1193Y	FYCO1_uc011bal.1_Missense_Mutation_p.H1193Y	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1193	FYVE-type.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46005857	46005857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46005857C>A	uc003cpb.3	-	10	3446	c.3240G>T	c.(3238-3240)GAG>GAT	p.E1080D	FYCO1_uc011bal.1_Missense_Mutation_p.E1080D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1080	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46008779	46008779	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46008779C>G	uc003cpb.3	-	8	2253	c.2047G>C	c.(2047-2049)GCT>CCT	p.A683P	FYCO1_uc011bal.1_Missense_Mutation_p.A683P	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	683	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46307353	46307353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46307353A>G	uc003cpg.1	+	4	1247	c.704A>G	c.(703-705)TAC>TGC	p.Y235C	CCR3_uc003cpi.1_Missense_Mutation_p.Y235C|CCR3_uc003cpj.1_Missense_Mutation_p.Y235C|CCR3_uc003cpk.1_Missense_Mutation_p.Y256C|CCR3_uc010hjb.1_Missense_Mutation_p.Y253C|CCR3_uc003cpl.1_Missense_Mutation_p.Y268C	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	235	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)														---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399365	46399365	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46399365T>A	uc003cpn.3	+	2	832	c.347T>A	c.(346-348)TTC>TAC	p.F116Y	CCR2_uc003cpm.3_Missense_Mutation_p.F116Y	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	116	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)														---	---	---	---
LTF	4057	broad.mit.edu	37	3	46484968	46484968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46484968C>T	uc003cpq.2	-	13	1657	c.1619G>A	c.(1618-1620)AGC>AAC	p.S540N	LTF_uc003fzr.2_Missense_Mutation_p.S496N|LTF_uc010hjh.2_Missense_Mutation_p.S538N|LTF_uc003cpr.2_Missense_Mutation_p.S527N	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	540	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)													---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46560562	46560562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46560562G>A	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46586530	46586530	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46586530A>G	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46729723	46729723	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46729723C>T	uc003cqa.1	-	3	357	c.167G>A	c.(166-168)AGC>AAC	p.S56N	ALS2CL_uc003cqb.1_Missense_Mutation_p.S56N|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	56					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47037074	47037074	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47037074G>A	uc003cqp.2	+	13	2028	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NBEAL2_uc003cqq.1_Missense_Mutation_p.A583T|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	617							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47042782	47042782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47042782A>G	uc003cqp.2	+	29	4677	c.4498A>G	c.(4498-4500)ATG>GTG	p.M1500V	NBEAL2_uc010hjm.1_Missense_Mutation_p.M877V|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1500							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47043945	47043945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47043945G>A	uc003cqp.2	+	32	5415	c.5236G>A	c.(5236-5238)GAC>AAC	p.D1746N	NBEAL2_uc010hjm.1_Missense_Mutation_p.D1123N|NBEAL2_uc010hjn.1_Missense_Mutation_p.D142N|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1746							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47288960	47288960	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47288960C>T	uc010hjp.2	-	13	1740	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	KIF9_uc003cqx.2_Missense_Mutation_p.R379H|KIF9_uc003cqy.2_Missense_Mutation_p.R379H|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	379	Potential.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47315142	47315142	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47315142A>G	uc010hjp.2	-	5	870	c.266T>C	c.(265-267)ATC>ACC	p.I89T	KIF9_uc003cqx.2_Missense_Mutation_p.I89T|KIF9_uc003cqy.2_Missense_Mutation_p.I89T|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	89	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47449865	47449865	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47449865C>T	uc003crf.1	+	15	1311	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	PTPN23_uc011baw.1_Silent_p.P370P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P275P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	405	TPR 2.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.P405P(1)		breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454597	47454597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454597G>A	uc003crf.1	+	25	4929	c.4833G>A	c.(4831-4833)GGG>GGA	p.G1611G	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.G1481G|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1611					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454675	47454675	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454675A>G	uc003crf.1	+	25	5007	c.4911A>G	c.(4909-4911)TGA>TGG	p.*1637W	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Nonstop_Mutation_p.*1507W|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1637					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47456380	47456380	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47456380G>A	uc003crh.1	-	20	3498	c.3243C>T	c.(3241-3243)CCC>CCT	p.P1081P	SCAP_uc011baz.1_Silent_p.P825P|SCAP_uc003crg.2_Silent_p.P688P|uc003cri.2_RNA	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1081	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 4.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)														---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47618735	47618735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47618735C>T	uc003crp.3	-	2	957	c.781G>A	c.(781-783)GAT>AAT	p.D261N	CSPG5_uc003crn.2_Missense_Mutation_p.D123N|CSPG5_uc003cro.3_Missense_Mutation_p.D261N|CSPG5_uc011bbb.1_Missense_Mutation_p.D123N	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	261	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47719791	47719791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47719791A>G	uc003crq.2	-	16	1586	c.1468T>C	c.(1468-1470)TAT>CAT	p.Y490H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.Y381H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	490	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47787474	47787474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47787474A>G	uc003crq.2	-	3	443	c.325T>C	c.(325-327)TTC>CTC	p.F109L	SMARCC1_uc011bbd.1_5'UTR	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	109					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889772	47889772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47889772C>T	uc003cru.2	+	15	2815	c.2389C>T	c.(2389-2391)CGA>TGA	p.R797*	DHX30_uc003crt.2_Nonsense_Mutation_p.R758*|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	797	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47890735	47890735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47890735C>A	uc003cru.2	+	19	3409	c.2983C>A	c.(2983-2985)CCC>ACC	p.P995T	DHX30_uc003crt.2_Missense_Mutation_p.P956T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	995						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200451	48200451	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48200451C>T	uc003csh.1	-	15	1923	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	CDC25A_uc003csi.1_Missense_Mutation_p.R480H	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	520				R->L: Abrogates binding to CCNB1; when associated with L-514.	cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48205845	48205845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48205845A>G	uc003csh.1	-	13	1638	c.1274T>C	c.(1273-1275)GTC>GCC	p.V425A	CDC25A_uc003csi.1_Missense_Mutation_p.V385A	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	425	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CAMP	820	broad.mit.edu	37	3	48266137	48266137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48266137G>T	uc003csj.1	+	3	494	c.354G>T	c.(352-354)AGG>AGT	p.R118S		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				upper_aerodigestive_tract(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
NME6	10201	broad.mit.edu	37	3	48336637	48336637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48336637G>A	uc003csp.3	-	5	373	c.322C>T	c.(322-324)CGC>TGC	p.R108C	NME6_uc003cso.2_Missense_Mutation_p.R116C|NME6_uc011bbh.1_Silent_p.H94H|NME6_uc010hju.2_Missense_Mutation_p.R10C|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	108					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48453266	48453266	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48453266C>T	uc003csw.2	-						PLXNB1_uc003cst.2_Intron|PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Intron	NM_002673	NP_002664			plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48456404	48456404	+	Missense_Mutation	SNP	C	T	T	rs149435305	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48456404C>T	uc003csw.2	-	21	4283	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1155H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1338H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_Missense_Mutation_p.R46H	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1338	Extracellular (Potential).|IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48615911	48615911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48615911C>T	uc003ctz.2	-	63	5463	c.5462G>A	c.(5461-5463)GGC>GAC	p.G1821D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1821	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
UQCRC1	7384	broad.mit.edu	37	3	48638105	48638105	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48638105C>T	uc003cub.1	-						UQCRC1_uc003cua.1_Intron|UQCRC1_uc003cuc.1_Intron|UQCRC1_uc003cud.1_Intron	NM_003365	NP_003356			ubiquinol-cytochrome c reductase core protein I						aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)													---	---	---	---
TMEM89	440955	broad.mit.edu	37	3	48658279	48658279	+	Missense_Mutation	SNP	C	T	T	rs150843832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48658279C>T	uc011bbo.1	-	2	476	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	159	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48697789	48697789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48697789T>A	uc003cul.2	-	1	2560	c.2279A>T	c.(2278-2280)GAG>GTG	p.E760V	CELSR3_uc003cuf.1_Missense_Mutation_p.E830V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48717233	48717233	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48717233C>T	uc003cun.2	-	7	1444	c.1350_splice	c.e7+1	p.M450_splice	NCKIPSD_uc003cum.2_Splice_Site_p.M443_splice	NM_016453	NP_057537			NCK interacting protein with SH3 domain isoform						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48725700	48725700	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48725700G>A	uc003cup.2	-	6					NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_3'UTR	NM_001005909	NP_001005909			inositol hexaphosphate kinase 2 isoform a						negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0																		---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	48965110	48965110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48965110T>C	uc003cvb.2	+	3	431	c.119T>C	c.(118-120)GTG>GCG	p.V40A	ARIH2_uc003cvc.2_Missense_Mutation_p.V40A|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.V40A|ARIH2_uc003cvd.1_Missense_Mutation_p.V40A|ARIH2_uc003cve.1_Missense_Mutation_p.V40A	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	40	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49017838	49017838	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49017838T>A	uc003cvb.2	+	13	1478	c.1166T>A	c.(1165-1167)ATT>AAT	p.I389N	ARIH2_uc003cvc.2_Missense_Mutation_p.I389N|ARIH2_uc003cvf.2_Missense_Mutation_p.I307N|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	389	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49049542	49049542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49049542C>T	uc003cvj.2	+	2	803	c.665C>T	c.(664-666)GCC>GTC	p.A222V	WDR6_uc011bbx.1_Missense_Mutation_p.A93V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A166V|WDR6_uc011bbz.1_Missense_Mutation_p.A141V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	192	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)														---	---	---	---
IMPDH2	3615	broad.mit.edu	37	3	49062235	49062235	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49062235A>G	uc003cvt.2	-	12	1388	c.1296T>C	c.(1294-1296)AGT>AGC	p.S432S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	432					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)													---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148577	49148577	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148577A>G	uc003cwd.1	-	22	3203	c.3042T>C	c.(3040-3042)GGT>GGC	p.G1014G	USP19_uc003cwa.2_Silent_p.G822G|USP19_uc003cvz.3_Silent_p.G1117G|USP19_uc011bcg.1_Silent_p.G1105G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G772G|USP19_uc011bch.1_Silent_p.G1115G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1014	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148735	49148735	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148735A>C	uc003cwd.1	-	21	3133	c.2972T>G	c.(2971-2973)ATC>AGC	p.I991S	USP19_uc003cwa.2_Missense_Mutation_p.I799S|USP19_uc003cvz.3_Missense_Mutation_p.I1094S|USP19_uc011bcg.1_Missense_Mutation_p.I1082S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.I749S|USP19_uc011bch.1_Missense_Mutation_p.I1092S	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	991	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49159770	49159770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49159770A>G	uc003cwe.2	-	28	4906	c.4607T>C	c.(4606-4608)GTG>GCG	p.V1536A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1536	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49163223	49163223	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49163223G>T	uc003cwe.2	-	18	2744	c.2445C>A	c.(2443-2445)CTC>CTA	p.L815L	LAMB2_uc003cwf.1_Silent_p.L815L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	815	Laminin EGF-like 6.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
CCDC71	64925	broad.mit.edu	37	3	49201174	49201174	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49201174A>G	uc003cwg.3	-	2	606	c.468T>C	c.(466-468)GGT>GGC	p.G156G		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	156										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49293631	49293631	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49293631A>C	uc003cwk.2	+	10	1088	c.701A>C	c.(700-702)CAG>CCG	p.Q234P	CCDC36_uc011bck.1_Missense_Mutation_p.Q234P	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234	Potential.									ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49331880	49331880	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49331880T>G	uc003cwq.2	-	14	1922	c.1843A>C	c.(1843-1845)ACC>CCC	p.T615P	USP4_uc003cwo.2_Missense_Mutation_p.T327P|USP4_uc003cwp.2_Missense_Mutation_p.T345P|USP4_uc003cwr.2_Missense_Mutation_p.T568P	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	615					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689428	49689428	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689428C>T	uc003cxe.3	+	5	2553	c.2439C>T	c.(2437-2439)GAC>GAT	p.D813D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	813					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693164	49693164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693164C>T	uc003cxe.3	+	5	6289	c.6175C>T	c.(6175-6177)CGG>TGG	p.R2059W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2059					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693315	49693315	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693315A>T	uc003cxe.3	+	5	6440	c.6326A>T	c.(6325-6327)GAC>GTC	p.D2109V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2109					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49698225	49698225	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49698225A>T	uc003cxe.3	+	6	9061	c.8947A>T	c.(8947-8949)ATC>TTC	p.I2983F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2983					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
MST1	4485	broad.mit.edu	37	3	49721785	49721785	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49721785A>G	uc003cxg.2	-	17	2050	c.1978T>C	c.(1978-1980)TGC>CGC	p.C660R		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	646	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737706	49737706	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737706G>A	uc003cxh.2	+	13	1117	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	RNF123_uc010hky.1_Missense_Mutation_p.G6D|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	344						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737739	49737739	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737739A>C	uc003cxh.2	+	13	1150	c.1064A>C	c.(1063-1065)CAG>CCG	p.Q355P	RNF123_uc010hky.1_Missense_Mutation_p.Q17P|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	355						cytoplasm	ligase activity|protein binding|zinc ion binding	p.Q355fs*60(1)		kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49740860	49740860	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49740860A>G	uc003cxh.2	+	21	1837	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	RNF123_uc010hky.1_Missense_Mutation_p.E246G|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	584						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)												OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755433	49755433	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755433C>T	uc003cxj.2	-	1	1806	c.1466G>A	c.(1465-1467)GGC>GAC	p.G489D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	489	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755718	49755718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755718C>T	uc003cxj.2	-	1	1521	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	394	Helical; (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756426	49756426	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756426G>A	uc003cxj.2	-	1	813	c.473C>T	c.(472-474)GCG>GTG	p.A158V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	158	Extracellular (Potential).|LRR 5.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756752	49756752	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756752G>C	uc003cxj.2	-	1	487	c.147C>G	c.(145-147)GGC>GGG	p.G49G	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	49	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50098595	50098595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50098595G>T	uc003cyc.2	+	13	2427	c.2294G>T	c.(2293-2295)AGG>ATG	p.R765M	RBM6_uc010hlc.1_Missense_Mutation_p.R284M|RBM6_uc003cyd.2_Missense_Mutation_p.R243M|RBM6_uc003cye.2_Missense_Mutation_p.R243M|RBM6_uc011bdi.1_Missense_Mutation_p.R107M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	765					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50220395	50220395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50220395G>A	uc003cyj.2	+	10	1160	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R290Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	321	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)														---	---	---	---
NAT6	24142	broad.mit.edu	37	3	50334959	50334959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50334959C>T	uc003czi.2	-						HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Intron|NAT6_uc003czk.3_5'UTR|NAT6_uc003czl.1_5'UTR	NM_012191	NP_036323			N-acetyltransferase 6							cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50380781	50380781	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50380781C>G	uc003dag.1	-	5	613	c.467G>C	c.(466-468)GGC>GCC	p.G156A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.G156A|ZMYND10_uc003dah.1_Missense_Mutation_p.G77A|ZMYND10_uc010hlm.1_Missense_Mutation_p.G113A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	156						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)											TSP Lung(30;0.18)			---	---	---	---
NPRL2	10641	broad.mit.edu	37	3	50385278	50385278	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50385278A>T	uc003daj.1	-	10	1390	c.987T>A	c.(985-987)TAT>TAA	p.Y329*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Nonsense_Mutation_p.Y209*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	329					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1																		---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50413106	50413106	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50413106T>C	uc003daq.2	-	21	1914	c.1876A>G	c.(1876-1878)ACC>GCC	p.T626A	CACNA2D2_uc003dap.2_Missense_Mutation_p.T626A	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	626	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)													---	---	---	---
CISH	1154	broad.mit.edu	37	3	50645243	50645243	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50645243G>A	uc003dax.2	-	3	753	c.572C>T	c.(571-573)GCG>GTG	p.A191V	CISH_uc010hlq.2_Missense_Mutation_p.A208V	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	191					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51101984G>A	uc011bds.1	+	6	444	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352414	51352414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352414A>G	uc011bds.1	+	32	3280	c.3257A>G	c.(3256-3258)GAA>GGA	p.E1086G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1086						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352435	51352435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352435C>T	uc011bds.1	+	32	3301	c.3278C>T	c.(3277-3279)CCG>CTG	p.P1093L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1093						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352488	51352488	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352488C>T	uc011bds.1	+	32	3354	c.3331C>T	c.(3331-3333)CGG>TGG	p.R1111W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1111						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51376458	51376458	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51376458A>G	uc011bds.1	+	37	3788	c.3765A>G	c.(3763-3765)ACA>ACG	p.T1255T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1255	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51393879	51393879	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51393879C>T	uc011bds.1	+	43	4481	c.4458C>T	c.(4456-4458)AGC>AGT	p.S1486S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1486	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51456125	51456125	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51456125C>G	uc003dbe.1	-						VPRBP_uc003dbf.1_Intron	NM_014703	NP_055518			HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
PCBP4	57060	broad.mit.edu	37	3	51992332	51992332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51992332C>T	uc003dcd.1	-	12	1353	c.957G>A	c.(955-957)ACG>ACA	p.T319T	PCBP4_uc003dcb.1_Silent_p.T285T|PCBP4_uc003dcc.1_Silent_p.T340T|PCBP4_uc003dce.1_Missense_Mutation_p.A321T|PCBP4_uc003dcf.1_Silent_p.T319T|PCBP4_uc003dcg.1_Silent_p.T285T|PCBP4_uc003dch.1_Silent_p.T319T|PCBP4_uc003dci.1_Silent_p.T159T|PCBP4_uc003dcj.1_Silent_p.T319T|PCBP4_uc003dck.1_Silent_p.T276T|PCBP4_uc003dcl.1_Intron	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	319						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
POC1A	25886	broad.mit.edu	37	3	52183949	52183949	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52183949C>T	uc003dcu.2	-	3	476	c.158G>A	c.(157-159)CGC>CAC	p.R53H	POC1A_uc003dcv.2_Missense_Mutation_p.R15H|POC1A_uc003dcw.2_Missense_Mutation_p.R53H	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	53	WD 1.					centriole|microtubule basal body					0																		---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52255388	52255388	+	Missense_Mutation	SNP	G	A	A	rs142806370		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52256541	52256541	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52256541A>G	uc003dda.1	-	2	2425	c.1791T>C	c.(1789-1791)AGT>AGC	p.S597S	TLR9_uc003ddb.2_Silent_p.S694S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	597	LRR 19.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257218	52257218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257218G>A	uc003dda.1	-	2	1748	c.1114C>T	c.(1114-1116)CAC>TAC	p.H372Y	TLR9_uc003ddb.2_Missense_Mutation_p.H469Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	372	LRR 12.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257565	52257565	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257565C>T	uc003dda.1	-	2	1401	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TLR9_uc003ddb.2_Missense_Mutation_p.R353H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	256	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52383021	52383021	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52383021A>T	uc011bef.1	+	13	2485	c.2224A>T	c.(2224-2226)ATC>TTC	p.I742F	DNAH1_uc003ddt.1_Missense_Mutation_p.I742F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	742	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52403902	52403902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52403902G>A	uc011bef.1	+	38	6266	c.6005G>A	c.(6004-6006)CGC>CAC	p.R2002H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2002	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52429663	52429663	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52429663A>T	uc011bef.1	+	70	11489	c.11228A>T	c.(11227-11229)GAA>GTA	p.E3743V	DNAH1_uc003ddv.2_Missense_Mutation_p.E601V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3808	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52485813	52485813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52485813G>A	uc003deb.2	-	4	290	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	88					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52486162	52486162	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52486162A>G	uc003deb.2	-	3	188	c.162T>C	c.(160-162)CCT>CCC	p.P54P	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	54	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52504925	52504925	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52504925T>C	uc011beg.1	+	5	481	c.409_splice	c.e5+2	p.G137_splice	NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice	NM_007184	NP_009115			nischarin						apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556242	52556242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556242G>A	uc003dej.2	+	59	6535	c.6461G>A	c.(6460-6462)GGC>GAC	p.G2154D	STAB1_uc003dek.1_Missense_Mutation_p.G169D|STAB1_uc003del.2_Missense_Mutation_p.G41D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2154	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556614	52556614	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556614T>G	uc003dej.2	+	61	6728	c.6654T>G	c.(6652-6654)CCT>CCG	p.P2218P	STAB1_uc003dek.1_Silent_p.P233P|STAB1_uc003del.2_Silent_p.P105P	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2218	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598072	52598072	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52598072T>A	uc003des.2	-	23	3881	c.3869A>T	c.(3868-3870)TAC>TTC	p.Y1290F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Y1290F|PBRM1_uc003der.2_Missense_Mutation_p.Y1258F|PBRM1_uc003det.2_Missense_Mutation_p.Y1305F|PBRM1_uc003deu.2_Missense_Mutation_p.Y1305F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Y1290F|PBRM1_uc010hmk.1_Missense_Mutation_p.Y1265F|PBRM1_uc003dey.2_Missense_Mutation_p.Y1265F|PBRM1_uc003dez.1_Missense_Mutation_p.Y1289F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1290					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52643740	52643740	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52643740T>C	uc003des.2	-	16	2168	c.2156A>G	c.(2155-2157)CAA>CGA	p.Q719R	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q719R|PBRM1_uc003der.2_Missense_Mutation_p.Q687R|PBRM1_uc003det.2_Missense_Mutation_p.Q734R|PBRM1_uc003deu.2_Missense_Mutation_p.Q734R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q719R|PBRM1_uc010hmk.1_Missense_Mutation_p.Q719R|PBRM1_uc003dey.2_Missense_Mutation_p.Q719R|PBRM1_uc003dez.1_Missense_Mutation_p.Q719R|PBRM1_uc003dfb.1_Missense_Mutation_p.Q632R|PBRM1_uc003dfa.1_Missense_Mutation_p.Q65R|PBRM1_uc003dfc.2_Missense_Mutation_p.Q86R	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	719	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y718_Q719>*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52745874	52745874	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52745874C>T	uc003dfq.3	-	16	2634	c.2445G>A	c.(2443-2445)CGG>CGA	p.R815R	NEK4_uc011bej.1_Silent_p.R726R	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	815					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)														---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52821105	52821105	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52821105G>T	uc003dfs.2	+	14	1902	c.1878G>T	c.(1876-1878)AAG>AAT	p.K626N	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.K227N|ITIH1_uc010hmo.1_Missense_Mutation_p.K180N|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	626	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)														---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833437	52833437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833437T>C	uc003dfv.2	+	8	875	c.839T>C	c.(838-840)GTG>GCG	p.V280A	ITIH3_uc011bek.1_Missense_Mutation_p.V280A	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	280					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52867330	52867330	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52867330C>T	uc003dgc.3	-	10					ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|MUSTN1_uc010hmq.1_Intron|MUSTN1_uc003dga.3_3'UTR|MUSTN1_uc003dgb.3_3'UTR	NM_198563	NP_940965			transmembrane protein 110							integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52877754C>T	uc003dge.2	-	6	682	c.601G>A	c.(601-603)GTC>ATC	p.V201I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V201I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	201	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52977522	52977522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52977522T>C	uc003dgf.2	-	5	780	c.211A>G	c.(211-213)ACC>GCC	p.T71A	SFMBT1_uc010hmr.2_Missense_Mutation_p.T18A|SFMBT1_uc003dgg.2_Missense_Mutation_p.T71A|SFMBT1_uc003dgh.2_Missense_Mutation_p.T71A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	71	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52988359	52988359	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52988359C>A	uc003dgf.2	-	4	666	c.97G>T	c.(97-99)GCA>TCA	p.A33S	SFMBT1_uc003dgg.2_Missense_Mutation_p.A33S|SFMBT1_uc003dgh.2_Missense_Mutation_p.A33S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	33	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
RFT1	91869	broad.mit.edu	37	3	53157860	53157860	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53157860T>C	uc003dgj.2	-						RFT1_uc003dgk.2_Intron	NM_052859	NP_443091			RFT1 homolog						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53700410	53700410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53700410A>G	uc003dgv.3	+	7	1127	c.964A>G	c.(964-966)AAT>GAT	p.N322D	CACNA1D_uc003dgu.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgy.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	322	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53757947G>A	uc003dgv.3	+	14	2184	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	CACNA1D_uc003dgu.3_Missense_Mutation_p.G694D|CACNA1D_uc003dgy.3_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.3_Missense_Mutation_p.G341D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	674	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53783420	53783420	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53783420T>C	uc003dgv.3	+	27	3603	c.3440T>C	c.(3439-3441)TTT>TCT	p.F1147S	CACNA1D_uc003dgu.3_Missense_Mutation_p.F1167S|CACNA1D_uc003dgy.3_Missense_Mutation_p.F1147S|CACNA1D_uc003dgw.3_Missense_Mutation_p.F814S|CACNA1D_uc003dgx.1_Missense_Mutation_p.F295S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1147	Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53892801	53892801	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53892801T>C	uc003dha.2	+	9	842	c.803T>C	c.(802-804)GTT>GCT	p.V268A		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	268	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)														---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53902862	53902862	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53902862T>A	uc003dhd.2	-	13	1818	c.1759A>T	c.(1759-1761)AAA>TAA	p.K587*	ACTR8_uc003dhb.2_Nonsense_Mutation_p.K292*|ACTR8_uc003dhc.2_Nonsense_Mutation_p.K476*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	587					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54157558	54157558	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54157558G>A	uc003dhf.2	+	2	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	47	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54905633	54905633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54905633A>G	uc003dhf.2	+	18	1742	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E471G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E299G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	565	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54922023	54922023	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54922023G>A	uc003dhf.2	+	24	2142	c.2094G>A	c.(2092-2094)GCG>GCA	p.A698A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A604A|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54958982	54958982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54958982C>T	uc003dhl.2	-	2	402	c.268G>A	c.(268-270)GCC>ACC	p.A90T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	90	Extracellular (Potential).|LRR 2.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)														---	---	---	---
ERC2	26059	broad.mit.edu	37	3	56114985	56114985	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56114985C>T	uc003dhr.1	-	7	1757	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	501	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)														---	---	---	---
C3orf63	23272	broad.mit.edu	37	3	56657354	56657354	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56657354T>A	uc003did.3	-	23	4642	c.4541A>T	c.(4540-4542)GAT>GTT	p.D1514V	C3orf63_uc003dib.3_Missense_Mutation_p.D633V|C3orf63_uc003dic.3_Missense_Mutation_p.D1138V|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1575										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)														---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57107810	57107810	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57107810G>A	uc003dij.1	+	2	763	c.88G>A	c.(88-90)GTT>ATT	p.V30I	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	30											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)														---	---	---	---
HESX1	8820	broad.mit.edu	37	3	57232257	57232257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57232257T>C	uc003din.3	-	4	860	c.526A>G	c.(526-528)AAA>GAA	p.K176E		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)														---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57274552	57274552	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57274552T>C	uc003dio.2	+	5	492	c.345T>C	c.(343-345)ATT>ATC	p.I115I	APPL1_uc010hnb.2_Silent_p.I115I|APPL1_uc011bey.1_Silent_p.I98I	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	115	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)														---	---	---	---
ASB14	142686	broad.mit.edu	37	3	57312659	57312659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57312659C>T	uc003diq.2	-	8	1273	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ASB14_uc003dip.1_Missense_Mutation_p.A108T	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	393	ANK 10.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58097866	58097866	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58097866A>T	uc003djj.2	+						FLNB_uc010hne.2_Intron|FLNB_uc003djk.2_Intron|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Intron|FLNB_uc003djm.2_Intron	NM_001457	NP_001448			filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58104628	58104628	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58104628T>C	uc003djj.2	+	19	2940	c.2775T>C	c.(2773-2775)GGT>GGC	p.G925G	FLNB_uc010hne.2_Silent_p.G925G|FLNB_uc003djk.2_Silent_p.G925G|FLNB_uc010hnf.2_Silent_p.G925G|FLNB_uc003djl.2_Silent_p.G756G|FLNB_uc003djm.2_Silent_p.G756G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	925	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
RPP14	11102	broad.mit.edu	37	3	58302681	58302681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58302681A>G	uc010hnh.2	+	5	707	c.279A>G	c.(277-279)GGA>GGG	p.G93G	RPP14_uc010hni.2_5'UTR|RPP14_uc003dju.3_Silent_p.G93G|RPP14_uc003djv.3_5'UTR|RPP14_uc003djw.3_5'UTR	NM_001098783	NP_001092253	O95059	RPP14_HUMAN	ribonuclease P 14kDa subunit	93					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)														---	---	---	---
PXK	54899	broad.mit.edu	37	3	58395860	58395860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58395860C>T	uc003djz.1	+	16	1538	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V	PXK_uc003djx.1_Missense_Mutation_p.A480V|PXK_uc003djy.1_Missense_Mutation_p.A463V|PXK_uc003dka.1_Missense_Mutation_p.A480V|PXK_uc003dkb.1_Missense_Mutation_p.A397V|PXK_uc003dkc.1_Missense_Mutation_p.A463V|PXK_uc011bfe.1_Missense_Mutation_p.A447V|PXK_uc010hnj.1_Missense_Mutation_p.A447V|PXK_uc003dkd.1_Missense_Mutation_p.A343V|PXK_uc010hnk.1_Missense_Mutation_p.A254V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	480	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	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)														---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58502969	58502969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58502969G>A	uc003dkl.2	-	13	1989	c.1814C>T	c.(1813-1815)GCA>GTA	p.A605V		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	605					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)														---	---	---	---
FAM3D	131177	broad.mit.edu	37	3	58639434	58639434	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58639434T>G	uc003dkq.2	-	3	385	c.88A>C	c.(88-90)AGC>CGC	p.S30R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	30					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62180761	62180761	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62180761C>T	uc003dlb.2	+	10	1963	c.1244C>T	c.(1243-1245)CCC>CTC	p.P415L	PTPRG_uc003dlc.2_Missense_Mutation_p.P415L	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	415	Fibronectin type-III.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62262706	62262706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62262706A>G	uc003dlb.2	+	25	4338	c.3619A>G	c.(3619-3621)AAT>GAT	p.N1207D	PTPRG_uc003dlc.2_Missense_Mutation_p.N1178D|PTPRG_uc011bfi.1_Missense_Mutation_p.N453D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1207	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
C3orf14	57415	broad.mit.edu	37	3	62318926	62318926	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62318926C>T	uc003dlf.2	+						C3orf14_uc010hnq.2_Intron|C3orf14_uc003dlg.2_Intron	NM_020685	NP_065736			hypothetical protein LOC57415											central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)														---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63466614	63466614	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63466614C>T	uc003dlq.2	+	2	500	c.131C>T	c.(130-132)GCG>GTG	p.A44V	SYNPR_uc003dlp.2_Missense_Mutation_p.A64V|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.A53V|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	44	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)														---	---	---	---
THOC7	80145	broad.mit.edu	37	3	63822025	63822025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63822025G>A	uc003dlt.3	-	5	493	c.362C>T	c.(361-363)GCT>GTT	p.A121V	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.A58V	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	121	Potential.|Interaction with THOC5.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)														---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63975959	63975959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63975959T>C	uc003dlw.3	+	10	2022	c.1469T>C	c.(1468-1470)TTA>TCA	p.L490S	ATXN7_uc003dlv.2_Missense_Mutation_p.L490S|ATXN7_uc010hnv.2_Missense_Mutation_p.L490S|ATXN7_uc011bfn.1_Missense_Mutation_p.L345S	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	490					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64587866	64587866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64587866A>G	uc003dmg.2	-	26	3803	c.3771T>C	c.(3769-3771)GGT>GGC	p.G1257G	ADAMTS9_uc011bfo.1_Silent_p.G1229G|ADAMTS9_uc003dmh.1_Silent_p.G1086G|ADAMTS9_uc011bfp.1_Silent_p.G168G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1257	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64589923	64589923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64589923G>A	uc003dmg.2	-	24	3591	c.3559C>T	c.(3559-3561)CGA>TGA	p.R1187*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.R1159*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.R1016*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.R98*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1187	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64627598	64627598	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64627598C>T	uc003dmg.2	-	12	1814	c.1782G>A	c.(1780-1782)TGG>TGA	p.W594*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.W566*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.W423*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.W594*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	594	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65350521	65350521	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65350521G>A	uc003dmn.2	-						MAGI1_uc003dmm.2_Intron|MAGI1_uc003dmo.2_Intron|MAGI1_uc003dmp.2_Intron	NM_001033057	NP_001028229			membrane associated guanylate kinase, WW and PDZ						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65416466	65416466	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65416466G>A	uc003dmn.2	-	11	1980	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	MAGI1_uc003dmm.2_Missense_Mutation_p.T485M|MAGI1_uc003dmo.2_Missense_Mutation_p.T485M|MAGI1_uc003dmp.2_Missense_Mutation_p.T485M|MAGI1_uc010hny.2_Missense_Mutation_p.T370M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	485	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66430685	66430685	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66430685A>C	uc003dmx.2	-	19					SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_3'UTR|LRIG1_uc003dmw.2_3'UTR|LRIG1_uc010hnz.2_3'UTR|LRIG1_uc010hoa.2_3'UTR	NM_015541	NP_056356			leucine-rich repeats and immunoglobulin-like							integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66434438	66434438	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66434438G>T	uc003dmx.2	-	14	2062	c.2048C>A	c.(2047-2049)GCT>GAT	p.A683D	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A303D|LRIG1_uc003dmw.2_Missense_Mutation_p.A349D|LRIG1_uc010hnz.2_Missense_Mutation_p.A399D|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66467619	66467619	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66467619A>C	uc003dmx.2	-	4	451	c.437T>G	c.(436-438)CTG>CGG	p.L146R	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L146R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	146	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
KBTBD8	84541	broad.mit.edu	37	3	67054650	67054650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67054650G>A	uc003dmy.2	+	3	1312	c.1259G>A	c.(1258-1260)TGT>TAT	p.C420Y	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	420	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)														---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67426240	67426240	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67426240T>C	uc003dna.3	-	11	1255	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G	SUCLG2_uc010hob.2_Silent_p.G156G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	409					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---
LMOD3	56203	broad.mit.edu	37	3	69168050	69168050	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69168050G>A	uc003dns.2	-	2	1665	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	LMOD3_uc003dnt.2_Missense_Mutation_p.R486W	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	486						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)														---	---	---	---
MITF	4286	broad.mit.edu	37	3	69928327	69928327	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69928327C>A	uc003dnz.2	+	2	263	c.147C>A	c.(145-147)AGC>AGA	p.S49R	MITF_uc011bgb.1_5'UTR|MITF_uc003doa.2_Missense_Mutation_p.S48R|MITF_uc003dob.2_Missense_Mutation_p.S33R|MITF_uc003dod.2_Missense_Mutation_p.S24R|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
MITF	4286	broad.mit.edu	37	3	69987112	69987112	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69987112G>A	uc003dnz.2	+	3	610	c.494G>A	c.(493-495)GGC>GAC	p.G165D	MITF_uc011bgb.1_Missense_Mutation_p.G113D|MITF_uc003doa.2_Missense_Mutation_p.G164D|MITF_uc003dob.2_Missense_Mutation_p.G149D|MITF_uc003dod.2_Missense_Mutation_p.G140D|MITF_uc003doe.2_Missense_Mutation_p.G58D|MITF_uc003dof.2_Missense_Mutation_p.G58D	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71015100	71015100	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71015100C>A	uc003dol.2	-	16	2153	c.1830G>T	c.(1828-1830)ATG>ATT	p.M610I	FOXP1_uc003dom.2_Missense_Mutation_p.M534I|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.M609I|FOXP1_uc003dop.2_Missense_Mutation_p.M610I|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.M510I|FOXP1_uc003doj.2_Missense_Mutation_p.M510I|FOXP1_uc003dok.2_Missense_Mutation_p.M423I	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	610					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71026102	71026102	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71026102G>C	uc003dol.2	-	13	1843	c.1520C>G	c.(1519-1521)GCC>GGC	p.A507G	FOXP1_uc003dom.2_Missense_Mutation_p.A431G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A506G|FOXP1_uc003dop.2_Missense_Mutation_p.A507G|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A407G|FOXP1_uc003doj.2_Missense_Mutation_p.A407G|FOXP1_uc003dok.2_Missense_Mutation_p.A320G|FOXP1_uc003dor.1_Missense_Mutation_p.A284G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	507	Fork-head.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73047252	73047252	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73047252A>T	uc003dph.1	+	2	129	c.59A>T	c.(58-60)GAA>GTA	p.E20V	PPP4R2_uc003dpi.1_Missense_Mutation_p.E20V	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	20					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73432638	73432638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73432638T>C	uc003dpl.1	-	10	3175	c.3079A>G	c.(3079-3081)AAG>GAG	p.K1027E	PDZRN3_uc011bgh.1_Missense_Mutation_p.K684E|PDZRN3_uc010hoe.1_Missense_Mutation_p.K725E|PDZRN3_uc011bgf.1_Missense_Mutation_p.K744E|PDZRN3_uc011bgg.1_Missense_Mutation_p.K747E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1027							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433389	73433389	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433389G>A	uc003dpl.1	-	10	2424	c.2328C>T	c.(2326-2328)GAC>GAT	p.D776D	PDZRN3_uc011bgh.1_Silent_p.D433D|PDZRN3_uc010hoe.1_Silent_p.D474D|PDZRN3_uc011bgf.1_Silent_p.D493D|PDZRN3_uc011bgg.1_Silent_p.D496D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	776							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74383974	74383974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74420395	74420395	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74420395T>G	uc003dpm.1	-	5	690	c.610A>C	c.(610-612)AAT>CAT	p.N204H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	204	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77530337	77530337	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77530337A>G	uc003dpy.3	+	4	1277	c.634A>G	c.(634-636)AGG>GGG	p.R212G	ROBO2_uc003dpz.2_Missense_Mutation_p.R212G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R212G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	212	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77629161	77629161	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77629161T>A	uc003dpy.3	+	16	3035	c.2392T>A	c.(2392-2394)TCC>ACC	p.S798T	ROBO2_uc003dpz.2_Missense_Mutation_p.S802T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.S802T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	798	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77684140	77684140	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77684140G>T	uc003dpy.3	+	24	4523	c.3880G>T	c.(3880-3882)GGG>TGG	p.G1294W	ROBO2_uc003dpz.2_Missense_Mutation_p.G1359W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1298W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1294	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78680329	78680329	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78680329T>C	uc003dqe.2	-	25	3816	c.3608A>G	c.(3607-3609)AAC>AGC	p.N1203S	ROBO1_uc003dqb.2_Missense_Mutation_p.N1164S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1103S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1158S|ROBO1_uc010hoh.2_Missense_Mutation_p.N395S|ROBO1_uc011bgl.1_Missense_Mutation_p.N775S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1203	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78763600	78763600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78763600A>G	uc003dqe.2	-	8	1200	c.992T>C	c.(991-993)GTT>GCT	p.V331A	ROBO1_uc003dqb.2_Missense_Mutation_p.V292A|ROBO1_uc003dqc.2_Missense_Mutation_p.V292A|ROBO1_uc003dqd.2_Missense_Mutation_p.V292A|ROBO1_uc003dqf.1_Missense_Mutation_p.V7A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	331	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
POU1F1	5449	broad.mit.edu	37	3	87313466	87313466	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:87313466A>G	uc003dqq.1	-	3	536	c.411T>C	c.(409-411)AAT>AAC	p.N137N	POU1F1_uc010hoj.1_Silent_p.N163N	NM_000306	NP_000297	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	137	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)														---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88040099T>C	uc003dqr.2	+	2	358	c.200T>C	c.(199-201)GTC>GCC	p.V67A		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)													---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205231	88205231	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88205231T>C	uc003dqw.2	+	4	747	c.436T>C	c.(436-438)TGT>CGT	p.C146R		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	146					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391057	89391057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89391057C>T	uc003dqy.2	+	5	1348	c.1123C>T	c.(1123-1125)CCA>TCA	p.P375S	EPHA3_uc003dqx.1_Missense_Mutation_p.P375S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	375	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89498434	89498434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89498434G>A	uc003dqy.2	+	14	2631	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	802	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
STX19	415117	broad.mit.edu	37	3	93733654	93733654	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:93733654T>C	uc003drh.1	-	2	717	c.460A>G	c.(460-462)ACA>GCA	p.T154A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	154					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945107	96945107	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945107G>A	uc010how.1	+	4	1158	c.1115_splice	c.e4-1	p.A372_splice	EPHA6_uc003drp.1_Splice_Site_p.A372_splice	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945273	96945273	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945273T>C	uc010how.1	+						EPHA6_uc003drp.1_Intron	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97251327	97251327	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97251327A>G	uc010how.1	+	11	2369	c.2326A>G	c.(2326-2328)AGT>GGT	p.S776G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.S142G|EPHA6_uc003drs.3_Missense_Mutation_p.S168G|EPHA6_uc003drr.3_Missense_Mutation_p.S168G|EPHA6_uc003drt.2_Missense_Mutation_p.S168G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	681	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97596328	97596328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97596328A>T	uc003drx.2	+	1	510	c.446A>T	c.(445-447)GAC>GTC	p.D149V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0																		---	---	---	---
MINA	84864	broad.mit.edu	37	3	97680537	97680537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97680537T>A	uc003drz.1	-	3	954	c.448A>T	c.(448-450)ATC>TTC	p.I150F	MINA_uc003dsa.1_Missense_Mutation_p.I150F|MINA_uc003dsb.1_Missense_Mutation_p.I150F|MINA_uc003dsc.1_Missense_Mutation_p.I150F|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	150	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806045	97806045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97806045T>C	uc011bgs.1	+	1	29	c.29T>C	c.(28-30)CTT>CCT	p.L10P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868324	97868324	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97868324T>C	uc003dsg.1	+	1	95	c.95T>C	c.(94-96)TTG>TCG	p.L32S		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983222	97983222	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983222G>T	uc003dsi.1	+	1	94	c.94G>T	c.(94-96)GGA>TGA	p.G32*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983483	97983483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983483T>C	uc003dsi.1	+	1	355	c.355T>C	c.(355-357)TCC>CCC	p.S119P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002053	98002053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002053T>C	uc003dsj.1	+	1	322	c.322T>C	c.(322-324)TCC>CCC	p.S108P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002164	98002164	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002164C>T	uc003dsj.1	+	1	433	c.433C>T	c.(433-435)CTA>TTA	p.L145L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98217044	98217044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98217044A>G	uc011bgx.1	+	1	520	c.520A>G	c.(520-522)ATC>GTC	p.I174V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2																		---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251463	98251463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98251463T>C	uc011bgy.1	+	1	586	c.586T>C	c.(586-588)TCC>CCC	p.S196P		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	196	Helical; Name=5; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)														---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98510729	98510729	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98510729G>A	uc003dsz.2	+	9	1037	c.801G>A	c.(799-801)GCG>GCA	p.A267A	ST3GAL6_uc003dsy.2_Silent_p.A181A|ST3GAL6_uc003dta.2_Silent_p.A149A|ST3GAL6_uc003dtb.2_Silent_p.A123A|ST3GAL6_uc003dtc.2_Silent_p.A267A|ST3GAL6_uc010hpd.2_Silent_p.A320A	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	267	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518401	98518401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98518401A>G	uc003dtd.2	-	16	2506	c.2143T>C	c.(2143-2145)TAC>CAC	p.Y715H	DCBLD2_uc003dte.2_Missense_Mutation_p.Y729H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	715	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98600376	98600376	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98600376A>G	uc003dtd.2	-						DCBLD2_uc003dte.2_Intron|DCBLD2_uc003dtf.1_Intron	NM_080927	NP_563615			discoidin, CUB and LCCL domain containing 2						cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99513553	99513553	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99513553G>T	uc003dtg.1	+	5	1053	c.808G>T	c.(808-810)GGA>TGA	p.G270*	COL8A1_uc003dth.1_Nonsense_Mutation_p.G270*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G271*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	270	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99567352	99567352	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99567352A>G	uc003dtm.2	-	5	3631	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T1056T|FILIP1L_uc010hpf.2_Silent_p.T632T|FILIP1L_uc010hpg.2_Silent_p.T816T|FILIP1L_uc003dtn.2_Silent_p.T816T|FILIP1L_uc003dtp.1_Silent_p.T816T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1056						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568036	99568036	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99568036A>G	uc003dtm.2	-	5	2947	c.2484T>C	c.(2482-2484)TAT>TAC	p.Y828Y	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.Y828Y|FILIP1L_uc010hpf.2_Silent_p.Y404Y|FILIP1L_uc010hpg.2_Silent_p.Y588Y|FILIP1L_uc003dtn.2_Silent_p.Y588Y|FILIP1L_uc003dtp.1_Silent_p.Y588Y	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	828						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99569857	99569857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99569857C>A	uc003dtm.2	-	5	1126	c.663G>T	c.(661-663)AAG>AAT	p.K221N	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K221N|FILIP1L_uc010hpf.2_Translation_Start_Site|FILIP1L_uc010hpg.2_Translation_Start_Site|FILIP1L_uc003dtn.2_Translation_Start_Site|FILIP1L_uc003dtp.1_Translation_Start_Site	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	221	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100067663	100067663	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100067663A>C	uc003dtv.2	+	7	596	c.522A>C	c.(520-522)GTA>GTC	p.V174V	NIT2_uc011bha.1_Missense_Mutation_p.Y143S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	174	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1																		---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148609	100148609	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100148609T>C	uc003dtx.3	+	2	1316	c.36T>C	c.(34-36)TCT>TCC	p.S12S	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	12											0																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413729	100413729	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413729T>C	uc003duc.2	+	16	2546	c.2278T>C	c.(2278-2280)TAT>CAT	p.Y760H	GPR128_uc011bhc.1_Missense_Mutation_p.Y461H|GPR128_uc003dud.2_Missense_Mutation_p.Y283H	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	760	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413823	100413823	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413823A>T	uc003duc.2	+	16	2640	c.2372A>T	c.(2371-2373)GAC>GTC	p.D791V	GPR128_uc011bhc.1_Missense_Mutation_p.D492V|GPR128_uc003dud.2_Missense_Mutation_p.D314V	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	791	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100964745	100964745	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100964745T>C	uc003duq.1	-	12	1647	c.1444A>G	c.(1444-1446)AGC>GGC	p.S482G	IMPG2_uc011bhe.1_Missense_Mutation_p.S345G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	482	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101047497	101047497	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101047497A>G	uc003dut.2	-	21	2899	c.2788T>C	c.(2788-2790)TGT>CGT	p.C930R	SENP7_uc003duu.2_Missense_Mutation_p.C865R|SENP7_uc003duv.2_Missense_Mutation_p.C897R|SENP7_uc003duw.2_Missense_Mutation_p.C864R|SENP7_uc003dux.2_Missense_Mutation_p.C766R|SENP7_uc003dus.2_Missense_Mutation_p.C118R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	930	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101080556	101080556	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101080556T>A	uc003dut.2	-						SENP7_uc003duu.2_Intron|SENP7_uc003duv.2_Intron|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705			sentrin/SUMO-specific protease 7 isoform 1						proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311518	101311518	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311518A>G	uc003dva.2	+	5	476	c.458A>G	c.(457-459)CAT>CGT	p.H153R	PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	153					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101370037	101370037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101370037C>A	uc003dve.3	-	11	3365	c.3135G>T	c.(3133-3135)GAG>GAT	p.E1045D		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101370373	101370373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101370373C>T	uc003dve.3	-	11	3029	c.2799G>A	c.(2797-2799)ATG>ATA	p.M933I		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	933	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
FAM55C	91775	broad.mit.edu	37	3	101525942	101525942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101525942G>A	uc003dvn.2	+	6	1531	c.894G>A	c.(892-894)TGG>TGA	p.W298*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.W298*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	298						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
CBLB	868	broad.mit.edu	37	3	105378039	105378039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:105378039T>C	uc003dwc.2	-	19	3046	c.2724A>G	c.(2722-2724)CCA>CCG	p.P908P	CBLB_uc003dwa.2_Silent_p.P123P|CBLB_uc011bhi.1_Silent_p.P886P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	908	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9								Mis S		AML								---	---	---	---
BBX	56987	broad.mit.edu	37	3	107463488	107463488	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107463488C>T	uc010hpr.2	+	8	1008	c.681C>T	c.(679-681)GGC>GGT	p.G227G	BBX_uc003dwk.3_Silent_p.G227G|BBX_uc003dwl.3_Silent_p.G227G|BBX_uc010hps.1_Silent_p.G248G|BBX_uc003dwm.3_Silent_p.G227G	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108300296	108300296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108300296T>C	uc003dxb.3	-	5	784	c.515A>G	c.(514-516)CAC>CGC	p.H172R	KIAA1524_uc003dxc.1_Missense_Mutation_p.H13R|KIAA1524_uc010hpw.1_Missense_Mutation_p.H13R	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	172						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108303909	108303909	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108303909T>C	uc003dxb.3	-						KIAA1524_uc003dxc.1_Intron|KIAA1524_uc010hpw.1_Intron	NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108366943	108366943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108366943T>C	uc003dxd.2	+	16	2368	c.1946T>C	c.(1945-1947)CTT>CCT	p.L649P	DZIP3_uc003dxf.1_Missense_Mutation_p.L649P|DZIP3_uc011bhm.1_Missense_Mutation_p.L100P|DZIP3_uc003dxe.1_Missense_Mutation_p.L649P|DZIP3_uc003dxg.1_Missense_Mutation_p.L372P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	649	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108392929	108392929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108392929A>T	uc003dxd.2	+	24	3016	c.2594A>T	c.(2593-2595)TAT>TTT	p.Y865F	DZIP3_uc003dxf.1_Missense_Mutation_p.Y865F|DZIP3_uc011bhm.1_Missense_Mutation_p.Y316F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	865					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108639352	108639352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108639352C>T	uc003dxj.2	-	2	353	c.285G>A	c.(283-285)TGG>TGA	p.W95*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W95*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	95	EF-hand 3.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0																		---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110840996	110840996	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:110840996T>C	uc003dxt.1	+	4	828	c.828T>C	c.(826-828)TAT>TAC	p.Y276Y	PVRL3_uc003dxu.1_Silent_p.Y253Y	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	276	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2																		---	---	---	---
CD96	10225	broad.mit.edu	37	3	111356947	111356947	+	Missense_Mutation	SNP	C	T	T	rs146409785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111356947C>T	uc003dxw.2	+	13	1627	c.1457C>T	c.(1456-1458)GCC>GTC	p.A486V	CD96_uc003dxx.2_Missense_Mutation_p.A470V|CD96_uc010hpy.1_Missense_Mutation_p.A469V	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	486	Extracellular (Potential).|Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111692618	111692618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111692618A>G	uc010hqa.2	+	17	3986	c.3575A>G	c.(3574-3576)CAA>CGA	p.Q1192R	PHLDB2_uc003dyc.2_Missense_Mutation_p.Q1176R|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q1192R|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q683R|PHLDB2_uc003dyj.2_Missense_Mutation_p.Q247R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1192	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111921193	111921193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111921193C>A	uc003dyu.2	-	18	2448	c.2226G>T	c.(2224-2226)AAG>AAT	p.K742N	SLC9A10_uc011bhu.1_Missense_Mutation_p.K5N|SLC9A10_uc010hqc.2_Missense_Mutation_p.K694N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	742					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
SLC35A5	55032	broad.mit.edu	37	3	112292735	112292735	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112292735G>T	uc003dze.2	+	5	606	c.361_splice	c.e5-1	p.A121_splice		NM_017945	NP_060415			solute carrier family 35, member A5							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
SLC35A5	55032	broad.mit.edu	37	3	112299708	112299708	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112299708C>T	uc003dze.2	+	6	989	c.744C>T	c.(742-744)ATC>ATT	p.I248I		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	248	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358355	112358355	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112358355G>T	uc003dzf.2	-	2	616	c.398C>A	c.(397-399)CCT>CAT	p.P133H	CCDC80_uc011bhv.1_Missense_Mutation_p.P133H|CCDC80_uc003dzg.2_Missense_Mutation_p.P133H|CCDC80_uc003dzh.1_Missense_Mutation_p.P133H	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	133										ovary(2)	2																		---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358757	112358757	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112358757T>C	uc003dzf.2	-	2					CCDC80_uc011bhv.1_5'UTR|CCDC80_uc003dzg.2_5'UTR|CCDC80_uc003dzh.1_5'UTR	NM_199512	NP_955806			steroid-sensitive protein 1 precursor											ovary(2)	2																		---	---	---	---
BOC	91653	broad.mit.edu	37	3	112999441	112999441	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112999441G>T	uc003dzx.2	+	14	2860	c.2239G>T	c.(2239-2241)GGC>TGC	p.G747C	BOC_uc003dzy.2_Missense_Mutation_p.G747C|BOC_uc003dzz.2_Missense_Mutation_p.G748C|BOC_uc003eab.2_Missense_Mutation_p.G448C|BOC_uc003eac.2_Missense_Mutation_p.G62C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	747	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)															---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113166994	113166994	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113166994T>C	uc003eag.3	-						CCDC52_uc003eaf.3_Intron	NM_144718	NP_653319			coiled-coil domain containing 52						cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113169271	113169271	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113169271T>A	uc003eag.3	-	15	2526	c.2235A>T	c.(2233-2235)CTA>CTT	p.L745L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L641L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	745	Potential.				cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113346561	113346561	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113346561C>T	uc003eak.2	+	25					SIDT1_uc011big.1_3'UTR|SIDT1_uc011bii.1_3'UTR	NM_017699	NP_060169			SID1 transmembrane family, member 1 precursor							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375207	113375207	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375207A>C	uc003eam.2	-	7	5733	c.5322T>G	c.(5320-5322)GCT>GCG	p.A1774A	KIAA2018_uc003eal.2_Silent_p.A1718A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1774					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375611	113375611	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375611T>A	uc003eam.2	-	7	5329	c.4918A>T	c.(4918-4920)ATG>TTG	p.M1640L	KIAA2018_uc003eal.2_Missense_Mutation_p.M1584L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1640					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375915	113375915	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375915T>C	uc003eam.2	-	7	5025	c.4614A>G	c.(4612-4614)TTA>TTG	p.L1538L	KIAA2018_uc003eal.2_Silent_p.L1482L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1538	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377880	113377880	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113377880A>G	uc003eam.2	-	7	3060	c.2649T>C	c.(2647-2649)TCT>TCC	p.S883S	KIAA2018_uc003eal.2_Silent_p.S827S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	883	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378568	113378568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113378568A>G	uc003eam.2	-	7	2372	c.1961T>C	c.(1960-1962)GTT>GCT	p.V654A	KIAA2018_uc003eal.2_Missense_Mutation_p.V598A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	654					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
QTRTD1	79691	broad.mit.edu	37	3	113798905	113798905	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113798905G>T	uc003eay.2	+	8	1128	c.898_splice	c.e8+1	p.L300_splice	QTRTD1_uc003eaz.2_Splice_Site_p.L312_splice|QTRTD1_uc011biq.1_Splice_Site_p.L177_splice|QTRTD1_uc011bir.1_Splice_Site_p.L194_splice	NM_024638	NP_078914			queuine tRNA-ribosyltransferase domain						queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890743	113890743	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113890743C>T	uc003ebd.2	-	3	520	c.97G>A	c.(97-99)GCC>ACC	p.A33T	DRD3_uc010hqn.1_Missense_Mutation_p.A33T|DRD3_uc003ebb.1_Missense_Mutation_p.A33T|DRD3_uc003ebc.1_Missense_Mutation_p.A33T	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	33	Helical; Name=1.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.A33D(1)		ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)													---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115738431	115738431	+	Missense_Mutation	SNP	C	T	T	rs143751711		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:115738431C>T	uc003ebt.2	-	3	945	c.445G>A	c.(445-447)GTG>ATG	p.V149M	LSAMP_uc011bis.1_Missense_Mutation_p.V149M	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	149	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)														---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621666	118621666	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118621666C>A	uc003ebw.2	-	7	1244	c.997G>T	c.(997-999)GAG>TAG	p.E333*	IGSF11_uc011biv.1_Nonsense_Mutation_p.E305*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E309*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E332*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E308*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E332*	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	333	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0																		---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118867070	118867070	+	Missense_Mutation	SNP	G	A	A	rs138537972		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118867070G>A	uc003ecb.1	+	2	1482	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R481H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	481										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)														---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119084197	119084197	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119084197A>G	uc003ecj.3	+	2	667	c.135A>G	c.(133-135)ATA>ATG	p.I45M		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	45	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119120684	119120684	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119120684G>C	uc003ecj.3	+	10	1617	c.1085G>C	c.(1084-1086)GGA>GCA	p.G362A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119207829	119207829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119207829A>G	uc003ecm.2	+	8	876	c.792A>G	c.(790-792)AAA>AAG	p.K264K	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.K105K	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	264						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119306347	119306347	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119306347A>T	uc003ecs.2	+	5	994	c.696A>T	c.(694-696)AAA>AAT	p.K232N	ADPRH_uc010hqv.2_Missense_Mutation_p.K232N|ADPRH_uc011bjb.1_Missense_Mutation_p.K125N|ADPRH_uc003ect.2_Missense_Mutation_p.K232N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)														---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119912236	119912236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119912236A>G	uc011bjf.1	-	3	269	c.269T>C	c.(268-270)GTG>GCG	p.V90A	GPR156_uc011bjg.1_Missense_Mutation_p.V90A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	90	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120369653	120369653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120369653G>A	uc003edw.2	-	6	772	c.402C>T	c.(400-402)CAC>CAT	p.H134H	HGD_uc003edv.2_5'UTR	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120393819	120393819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120393819G>A	uc003edw.2	-	3	475	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	35					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120500128	120500128	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120500128A>G	uc003edz.3	+	5	1245	c.1131A>G	c.(1129-1131)CGA>CGG	p.R377R		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120924830	120924830	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120924830A>G	uc003eec.3	+	10	1078	c.938A>G	c.(937-939)TAC>TGC	p.Y313C	STXBP5L_uc011bji.1_Missense_Mutation_p.Y313C	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	313	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120998642	120998642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120998642T>C	uc003eec.3	+						STXBP5L_uc011bji.1_Intron	NM_014980	NP_055795			syntaxin binding protein 5-like						exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121263672	121263672	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121263672T>A	uc003eee.3	-	2	374	c.245A>T	c.(244-246)GAA>GTA	p.E82V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	82					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341232	121341232	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121341232T>A	uc003eeg.2	+	3	1166	c.956T>A	c.(955-957)ATA>AAA	p.I319K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	319					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121383850	121383850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121383850G>A	uc003eei.3	-	21	9694	c.9568C>T	c.(9568-9570)CGG>TGG	p.R3190W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3200W|GOLGB1_uc003eej.3_Missense_Mutation_p.R3156W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3190	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416590	121416590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121416590A>G	uc003eei.3	-	13	2891	c.2765T>C	c.(2764-2766)TTT>TCT	p.F922S	GOLGB1_uc010hrc.2_Missense_Mutation_p.F927S|GOLGB1_uc003eej.3_Missense_Mutation_p.F888S|GOLGB1_uc011bjm.1_Missense_Mutation_p.F808S|GOLGB1_uc010hrd.1_Missense_Mutation_p.F886S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	922	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121433709	121433709	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121433709T>C	uc003eei.3	-	10	1514	c.1388A>G	c.(1387-1389)CAG>CGG	p.Q463R	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q468R|GOLGB1_uc003eej.3_Missense_Mutation_p.Q429R|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q349R|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q427R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	463	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121448715	121448715	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121448715T>C	uc003eei.3	-	3	372	c.246A>G	c.(244-246)CTA>CTG	p.L82L	GOLGB1_uc010hrc.2_Silent_p.L82L|GOLGB1_uc003eej.3_Silent_p.L43L|GOLGB1_uc011bjm.1_Silent_p.L43L|GOLGB1_uc010hrd.1_Silent_p.L82L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	82	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121576008	121576008	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121576008A>G	uc003een.2	+						EAF2_uc003eeo.2_Intron	NM_018456	NP_060926			ELL associated factor 2						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)														---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121634113	121634113	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121634113T>A	uc003eep.2	+	6	721	c.568T>A	c.(568-570)TCC>ACC	p.S190T	SLC15A2_uc011bjn.1_Missense_Mutation_p.S159T	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	190	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---
CASR	846	broad.mit.edu	37	3	121973127	121973127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121973127G>A	uc003eev.3	+	2	463	c.91G>A	c.(91-93)GAC>AAC	p.D31N	CASR_uc003eew.3_Missense_Mutation_p.D31N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	31	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CASR	846	broad.mit.edu	37	3	122002928	122002928	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122002928G>T	uc003eev.3	+	7	2499	c.2127G>T	c.(2125-2127)AAG>AAT	p.K709N	CASR_uc003eew.3_Missense_Mutation_p.K719N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	709	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CCDC58	131076	broad.mit.edu	37	3	122087062	122087062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122087062A>T	uc003eey.2	-	3	288	c.285T>A	c.(283-285)GAT>GAA	p.D95E		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	95	Potential.										0				GBM - Glioblastoma multiforme(114;0.148)														---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122133953	122133953	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122133953G>A	uc003efa.1	-	1	930	c.423C>T	c.(421-423)ATC>ATT	p.I141I		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	141	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)														---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259515	122259515	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122259515T>G	uc010hri.2	-	8	1819	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PARP9_uc003eff.3_Missense_Mutation_p.E523D|PARP9_uc011bjs.1_Missense_Mutation_p.E523D|PARP9_uc003efg.2_Missense_Mutation_p.E103D|PARP9_uc003efi.2_Missense_Mutation_p.E523D|PARP9_uc003efh.2_Missense_Mutation_p.E558D|PARP9_uc003efj.2_Missense_Mutation_p.E523D	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	558					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)														---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287953	122287953	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122287953C>T	uc003efk.2	+	3	1106	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	339					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)														---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122334584	122334584	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122334584T>C	uc003efm.2	+						PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Intron|PARP15_uc003efp.1_Silent_p.L10L|PARP15_uc011bjt.1_Silent_p.L10L	NM_001113523	NP_001106995			poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418877	122418877	+	Silent	SNP	G	A	A	rs144051474	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418877G>A	uc003efq.3	+	6	1535	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.T209T|PARP14_uc003efs.1_Silent_p.T209T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437464	122437464	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122437464A>G	uc003efq.3	+	14	4525	c.4466A>G	c.(4465-4467)GAC>GGC	p.D1489G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D1206G|PARP14_uc003efs.1_Missense_Mutation_p.D1206G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122641228	122641228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122641228G>A	uc003efz.1	-	11	1643	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	SEMA5B_uc011bju.1_Missense_Mutation_p.R389C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R447C|SEMA5B_uc010hro.1_Missense_Mutation_p.R389C|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	447	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122808124	122808124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122808124T>C	uc003egc.1	+	2	208	c.152T>C	c.(151-153)GTG>GCG	p.V51A	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	51					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869205	122869205	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122869205G>A	uc003egc.1	+	14	1323	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	423	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123018977	123018977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123018977C>T	uc003egh.1	-	15	2890	c.2890G>A	c.(2890-2892)GCC>ACC	p.A964T	ADCY5_uc003egg.1_Missense_Mutation_p.A597T|ADCY5_uc003egi.1_Missense_Mutation_p.A523T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	964					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123166319	123166319	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123166319G>A	uc003egh.1	-	1	1074	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	358					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123376176	123376176	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123376176G>T	uc003ego.2	-	24	4367	c.4085C>A	c.(4084-4086)GCT>GAT	p.A1362D	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.A162D|MYLK_uc011bjw.1_Missense_Mutation_p.A1362D|MYLK_uc003egp.2_Missense_Mutation_p.A1293D|MYLK_uc003egq.2_Missense_Mutation_p.A1362D|MYLK_uc003egr.2_Missense_Mutation_p.A1293D|MYLK_uc003egs.2_Missense_Mutation_p.A1186D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1362	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)														---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123634043	123634043	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123634043T>C	uc011bjx.1	-	13	2536	c.2445A>G	c.(2443-2445)GGA>GGG	p.G815G	CCDC14_uc003egv.3_Silent_p.G456G|CCDC14_uc003egx.3_Silent_p.G615G|CCDC14_uc010hrt.2_Silent_p.G774G|CCDC14_uc003egy.3_Silent_p.G615G|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	815						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124132336	124132336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124132336C>T	uc003ehg.2	+	14	2487	c.2360C>T	c.(2359-2361)GCC>GTC	p.A787V	KALRN_uc010hrv.1_Missense_Mutation_p.A787V|KALRN_uc003ehf.1_Missense_Mutation_p.A787V|KALRN_uc011bjy.1_Missense_Mutation_p.A787V|KALRN_uc003ehh.1_Missense_Mutation_p.A133V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124215187	124215187	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124215187G>T	uc003ehg.2	+	33	4983	c.4856G>T	c.(4855-4857)GGG>GTG	p.G1619V	KALRN_uc010hrv.1_Missense_Mutation_p.G1610V|KALRN_uc003ehf.1_Missense_Mutation_p.G1619V|KALRN_uc011bjy.1_Missense_Mutation_p.G1610V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1619					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124379771	124379771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124379771A>G	uc003ehg.2	+	44	6342	c.6215A>G	c.(6214-6216)GAC>GGC	p.D2072G	KALRN_uc003ehi.2_Missense_Mutation_p.D413G|KALRN_uc003ehk.2_Missense_Mutation_p.D375G|KALRN_uc011bjz.1_Missense_Mutation_p.D164G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2071	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124415108	124415108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124415108G>T	uc003ehg.2	+						KALRN_uc003ehk.2_Intron	NM_001024660	NP_001019831			kalirin, RhoGEF kinase isoform 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124728610	124728610	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124728610C>A	uc003ehs.3	-	8	3200	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	HEG1_uc011bke.1_Missense_Mutation_p.Q1144H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1044	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124731782	124731782	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124731782G>A	uc003ehs.3	-	6	2709	c.2641C>T	c.(2641-2643)CTC>TTC	p.L881F	HEG1_uc011bke.1_Missense_Mutation_p.L981F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	881	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125271019	125271019	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125271019A>G	uc003eic.2	-							NM_022776	NP_073613			oxysterol binding protein-like 11						lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125651561	125651561	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125651561A>T	uc003eig.1	-							NM_001015050	NP_001015050			asparagine-linked glycosylation 1-like								transferase activity, transferring glycosyl groups				0																		---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125734386	125734386	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125734386A>G	uc003eij.2	-	8	1147	c.921T>C	c.(919-921)GTT>GTC	p.V307V	SLC41A3_uc003eii.2_Silent_p.V281V|SLC41A3_uc003eil.2_Silent_p.V307V|SLC41A3_uc003eik.2_Silent_p.V271V|SLC41A3_uc011bkh.1_Silent_p.V190V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	307						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125741771	125741771	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125741771C>G	uc003eij.2	-	6	829	c.603G>C	c.(601-603)GTG>GTC	p.V201V	SLC41A3_uc003eii.2_Silent_p.V175V|SLC41A3_uc003eil.2_Silent_p.V201V|SLC41A3_uc003eik.2_Silent_p.V165V|SLC41A3_uc011bkh.1_Silent_p.V84V|SLC41A3_uc010hsd.1_Silent_p.V216V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	201	Helical; (Potential).					integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125787043	125787043	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125787043C>T	uc003eij.2	-	2	246	c.20G>A	c.(19-21)CGG>CAG	p.R7Q	SLC41A3_uc003eil.2_Missense_Mutation_p.R7Q|SLC41A3_uc003eik.2_Missense_Mutation_p.R7Q|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.R7Q	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	7						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125850318	125850318	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125850318G>A	uc003eim.1	-	13	1722	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.A410V|ALDH1L1_uc003eio.2_Missense_Mutation_p.A213V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	511	Aldehyde dehydrogenase.		A -> V (in a colorectal cancer sample; somatic mutation).		10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.A511V(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125879768	125879768	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125879768G>T	uc003eim.1	-	2	245	c.55C>A	c.(55-57)CTG>ATG	p.L19M	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L19M|ALDH1L1_uc010hsf.1_Translation_Start_Site|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_Translation_Start_Site	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	19	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126216888	126216888	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126216888C>T	uc003eiz.1	-						UROC1_uc010hsi.1_Intron	NM_144639	NP_653240			urocanase domain containing 1 isoform 1						histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126224593	126224593	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126224593G>T	uc003eiz.1	-	8	796	c.764C>A	c.(763-765)GCT>GAT	p.A255D	UROC1_uc010hsi.1_Missense_Mutation_p.A255D	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	255					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126730880	126730880	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126730880A>G	uc003ejg.2	+	9	2127	c.2123A>G	c.(2122-2124)AAC>AGC	p.N708S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	731	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126749143	126749143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126749143C>T	uc003ejg.2	+	28	5054	c.5050C>T	c.(5050-5052)CGG>TGG	p.R1684W	PLXNA1_uc003ejh.2_Missense_Mutation_p.R352W	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1707	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327330	127327330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127327330G>A	uc003ejp.2	+	7	1264	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	MCM2_uc011bkm.1_Missense_Mutation_p.V273M|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V287M	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	403					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127395250	127395250	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127395250T>C	uc003ejt.2	+	5	544	c.456T>C	c.(454-456)AGT>AGC	p.S152S	ABTB1_uc003ejr.2_Silent_p.S10S|ABTB1_uc003ejs.2_Silent_p.S127S|ABTB1_uc003eju.2_Silent_p.S10S|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	152	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0																		---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127817786	127817786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127817786C>T	uc003ekh.2	-	7	860	c.756G>A	c.(754-756)GGG>GGA	p.G252G	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.G192G|RUVBL1_uc010hss.2_Silent_p.G252G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	252					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127831737	127831737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127831737C>T	uc003ekh.2	-	3	459	c.355G>A	c.(355-357)GCC>ACC	p.A119T	RUVBL1_uc003ekf.2_Missense_Mutation_p.A59T|RUVBL1_uc010hss.2_Missense_Mutation_p.A119T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	119					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127965841	127965841	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127965841T>A	uc003eki.2	+	2	517	c.479T>A	c.(478-480)ATT>AAT	p.I160N	EEFSEC_uc003ekj.2_Missense_Mutation_p.I160N	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	160						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	128077166	128077166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128077166T>C	uc003eki.2	+	6	1588	c.1550T>C	c.(1549-1551)ATC>ACC	p.I517T	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	517						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128707683	128707683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128707683C>T	uc003elj.3	-	3	537	c.341G>A	c.(340-342)CGT>CAT	p.R114H	KIAA1257_uc003elg.1_Missense_Mutation_p.R114H|KIAA1257_uc003eli.3_Missense_Mutation_p.R2H	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	114											0																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128711957	128711957	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128711957G>T	uc003elj.3	-	2	387	c.191C>A	c.(190-192)ACT>AAT	p.T64N	KIAA1257_uc003elg.1_Missense_Mutation_p.T64N|KIAA1257_uc003eli.3_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	64											0																		---	---	---	---
GP9	2815	broad.mit.edu	37	3	128780907	128780907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128780907C>T	uc003elm.2	+	3	512	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	109	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)													---	---	---	---
RAB43	339122	broad.mit.edu	37	3	128813922	128813922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128813922C>T	uc003eln.1	-	2	582	c.295G>A	c.(295-297)GAC>AAC	p.D99N	RAB43_uc003elo.1_Silent_p.T314T|RAB43_uc010hsy.1_Missense_Mutation_p.D99N	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	RAB43 protein	99					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	129137111	129137111	+	Missense_Mutation	SNP	C	T	T	rs149643945	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129137111C>T	uc003emg.2	-	3	830	c.667G>A	c.(667-669)GCG>ACG	p.A223T		NM_207307	NP_997190			hypothetical protein LOC90288																														---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129152683	129152683	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129152683A>G	uc003emh.1	-						MBD4_uc003emi.1_Intron|MBD4_uc003emj.1_Intron|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Intron	NM_003925	NP_003916			methyl-CpG binding domain protein 4						depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2													BER_DNA_glycosylases					---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129185775	129185775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129185775C>T	uc003emm.2	+	8	812	c.606C>T	c.(604-606)GCC>GCT	p.A202A	IFT122_uc003eml.2_Silent_p.A253A|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.A52A|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	202					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195221	129195221	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195221T>C	uc003emm.2	+	10	1086	c.880T>C	c.(880-882)TAC>CAC	p.Y294H	IFT122_uc003eml.2_Missense_Mutation_p.Y345H|IFT122_uc003emn.2_Missense_Mutation_p.Y235H|IFT122_uc003emo.2_Missense_Mutation_p.Y183H|IFT122_uc003emp.2_Missense_Mutation_p.Y144H|IFT122_uc010htc.2_Missense_Mutation_p.Y286H|IFT122_uc011bky.1_Missense_Mutation_p.Y85H|IFT122_uc003emq.2_Missense_Mutation_p.Y134H|IFT122_uc003emr.2_Missense_Mutation_p.Y85H|IFT122_uc011bla.1_Missense_Mutation_p.Y85H|IFT122_uc011bkx.1_Missense_Mutation_p.Y134H|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	294	WD 5.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195527	129195527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195527A>G	uc003emm.2	+	11	1236	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	IFT122_uc003eml.2_Missense_Mutation_p.T395A|IFT122_uc003emn.2_Missense_Mutation_p.T285A|IFT122_uc003emo.2_Missense_Mutation_p.T233A|IFT122_uc003emp.2_Missense_Mutation_p.T194A|IFT122_uc010htc.2_Missense_Mutation_p.T336A|IFT122_uc011bky.1_Missense_Mutation_p.T135A|IFT122_uc003emq.2_Missense_Mutation_p.T184A|IFT122_uc003emr.2_Missense_Mutation_p.T135A|IFT122_uc011bla.1_Missense_Mutation_p.T135A|IFT122_uc011bkx.1_Missense_Mutation_p.T184A|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	344	WD 6.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129226602	129226602	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129226602C>G	uc003emm.2	+	23	3089	c.2883C>G	c.(2881-2883)CAC>CAG	p.H961Q	IFT122_uc003eml.2_Missense_Mutation_p.H1012Q|IFT122_uc003emn.2_Missense_Mutation_p.H902Q|IFT122_uc003emo.2_Missense_Mutation_p.H851Q|IFT122_uc003emp.2_Missense_Mutation_p.H811Q|IFT122_uc010htc.2_Missense_Mutation_p.H954Q|IFT122_uc011bky.1_Missense_Mutation_p.H752Q|IFT122_uc003emq.2_Missense_Mutation_p.H801Q|IFT122_uc003emr.2_Missense_Mutation_p.H714Q|IFT122_uc011bla.1_Missense_Mutation_p.H735Q|IFT122_uc010hte.2_Missense_Mutation_p.H287Q|IFT122_uc003ems.2_Missense_Mutation_p.H343Q|IFT122_uc011bkx.1_Missense_Mutation_p.H802Q|IFT122_uc010htd.1_Missense_Mutation_p.H440Q	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	961					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
RHO	6010	broad.mit.edu	37	3	129249874	129249874	+	Missense_Mutation	SNP	G	A	A	rs139731264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129249874G>A	uc003emt.2	+	2	612	c.517G>A	c.(517-519)GCC>ACC	p.A173T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	173	Helical; Name=4; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)													---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129279264	129279264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129279264T>C	uc003emx.2	-	31	5142	c.5042A>G	c.(5041-5043)GAC>GGC	p.D1681G	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.D349G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1681	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129304789	129304789	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129304789A>G	uc003emx.2	-							NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695921	129695921	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129695921T>C	uc003enc.2	+	3	1152	c.591T>C	c.(589-591)TGT>TGC	p.C197C		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	197					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130285978	130285978	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130285978T>C	uc010htl.2	+	4	1746	c.1715T>C	c.(1714-1716)ATC>ACC	p.I572T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	572	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130300604	130300604	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130300604A>C	uc010htl.2	+	8	3778	c.3747A>C	c.(3745-3747)AAA>AAC	p.K1249N	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1249	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311908	130311908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311908G>T	uc010htl.2	+	15	4406	c.4375G>T	c.(4375-4377)GAA>TAA	p.E1459*	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1459	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311932	130311932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311932G>A	uc010htl.2	+	15	4430	c.4399G>A	c.(4399-4401)GGA>AGA	p.G1467R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1467	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130381128	130381128	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130381128A>G	uc010htl.2	+	34	6509	c.6478A>G	c.(6478-6480)AAG>GAG	p.K2160E	COL6A6_uc003eni.3_Missense_Mutation_p.K259E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2160	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130405096	130405096	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130405096G>A	uc003enj.2	-	15	4015	c.3434C>T	c.(3433-3435)ACT>ATT	p.T1145I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1145	WD 4.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130447430	130447430	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130447430T>C	uc003enj.2	-	6	2265	c.1684A>G	c.(1684-1686)ACA>GCA	p.T562A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	562					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682809	130682809	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682809T>C	uc003enl.2	+						ATP2C1_uc011blg.1_Intron|ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enk.2_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003eno.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enq.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197			calcium-transporting ATPase 2C1 isoform 1a						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682820	130682820	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682820C>T	uc003enl.2	+	13	1127	c.905C>T	c.(904-906)GCT>GTT	p.A302V	ATP2C1_uc011blg.1_Missense_Mutation_p.A336V|ATP2C1_uc011blh.1_Missense_Mutation_p.A297V|ATP2C1_uc011bli.1_Missense_Mutation_p.A336V|ATP2C1_uc003enk.2_Missense_Mutation_p.A286V|ATP2C1_uc003enm.2_Missense_Mutation_p.A302V|ATP2C1_uc003enn.2_Missense_Mutation_p.A286V|ATP2C1_uc003eno.2_Missense_Mutation_p.A302V|ATP2C1_uc003enp.2_Missense_Mutation_p.A302V|ATP2C1_uc003enq.2_Missense_Mutation_p.A302V|ATP2C1_uc003enr.2_Missense_Mutation_p.A302V|ATP2C1_uc003ens.2_Missense_Mutation_p.A302V|ATP2C1_uc003ent.2_Missense_Mutation_p.A302V|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	302	Helical; Name=4; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743433	130743433	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131271320	131271320	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131271320C>A	uc003eok.2	-	13	1567	c.1132G>T	c.(1132-1134)GCA>TCA	p.A378S	CPNE4_uc011blq.1_Missense_Mutation_p.A396S|CPNE4_uc003eol.2_Missense_Mutation_p.A396S|CPNE4_uc003eom.2_Missense_Mutation_p.A378S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	378	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131300411	131300411	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131300411T>C	uc003eok.2	-						CPNE4_uc011blq.1_Intron|CPNE4_uc003eol.2_Intron|CPNE4_uc003eom.2_Intron	NM_130808	NP_570720			copine IV											upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132051108	132051108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132051108C>T	uc010htp.2	+	4	466	c.376C>T	c.(376-378)CCA>TCA	p.P126S	ACPP_uc003eon.3_Missense_Mutation_p.P126S|ACPP_uc003eop.3_Missense_Mutation_p.P126S	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	126						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132056293	132056293	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132056293T>A	uc010htp.2	+						ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Intron	NM_001099	NP_001090			acid phosphatase, prostate short isoform							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132068825	132068825	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132068825A>G	uc010htp.2	+	8	933	c.843A>G	c.(841-843)AAA>AAG	p.K281K	ACPP_uc003eon.3_Silent_p.K248K|ACPP_uc003eop.3_Silent_p.K281K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	281						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132202234	132202234	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132202234A>G	uc003eor.2	+	28	3060	c.2995A>G	c.(2995-2997)ACC>GCC	p.T999A		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	999							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132207831	132207831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132207831A>G	uc003eor.2	+	31	3499	c.3434A>G	c.(3433-3435)TAC>TGC	p.Y1145C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1145							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132257035	132257035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132257035G>A	uc003eor.2	+	56	6706	c.6641G>A	c.(6640-6642)GGC>GAC	p.G2214D		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2214							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
CCRL1	51554	broad.mit.edu	37	3	132319590	132319590	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132319590G>A	uc003eow.2	+	2	432	c.349G>A	c.(349-351)GCC>ACC	p.A117T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A117T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	117	Helical; Name=3; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132402349	132402349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132402349A>G	uc003epe.1	-	25	3667	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	NPHP3_uc003eoz.1_Missense_Mutation_p.V76A|NPHP3_uc003epd.1_Missense_Mutation_p.V439A	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1197	TPR 9.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132409456	132409456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132409456G>A	uc003epe.1	-	19	2686	c.2609C>T	c.(2608-2610)CCG>CTG	p.P870L	NPHP3_uc003epd.1_Missense_Mutation_p.P112L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	870					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132432040	132432040	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132432040G>A	uc003epe.1	-	6	1125	c.1048C>T	c.(1048-1050)CTC>TTC	p.L350F	NPHP3_uc003epf.1_Missense_Mutation_p.L105F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	350					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133341983	133341983	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133341983T>C	uc003eps.2	-	19	3262	c.3130A>G	c.(3130-3132)AAA>GAA	p.K1044E	TOPBP1_uc003ept.1_Missense_Mutation_p.K48E	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---
TF	7018	broad.mit.edu	37	3	133473404	133473404	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133473404C>T	uc003epu.1	+	9	2119	c.391C>T	c.(391-393)CTT>TTT	p.L131F	TF_uc011bls.1_Missense_Mutation_p.L131F|TF_uc011blt.1_Missense_Mutation_p.L4F|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L131F	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
TF	7018	broad.mit.edu	37	3	133494403	133494403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133494403C>A	uc003epu.1	+	20	3542	c.1814C>A	c.(1813-1815)GCT>GAT	p.A605D	TF_uc011blt.1_Missense_Mutation_p.A478D|TF_uc003epw.1_Missense_Mutation_p.A44D|TF_uc003epv.1_Missense_Mutation_p.A605D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	605	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133538536	133538536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133538536G>A	uc003epx.1	+	7	758	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	248		GTP; via amide nitrogen (By similarity).				endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133583486	133583486	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133583486A>C	uc003epy.2	-	2	452	c.71T>G	c.(70-72)GTC>GGC	p.V24G	RAB6B_uc011blu.1_Missense_Mutation_p.V11G	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	24	GTP.				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1																		---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134089923	134089923	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134089923G>A	uc003eqf.2	-	2	644	c.527C>T	c.(526-528)GCG>GTG	p.A176V	AMOTL2_uc003eqg.1_Missense_Mutation_p.A118V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A118V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	118										large_intestine(1)	1																		---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134277113	134277113	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134277113A>T	uc003eqo.1	+	14	2046	c.1597A>T	c.(1597-1599)ATG>TTG	p.M533L	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	533	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134323034	134323034	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134323034G>A	uc010hty.2	-	11	1435	c.1373C>T	c.(1372-1374)TCG>TTG	p.S458L	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.S437L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	458						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134338077	134338077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134338077T>C	uc010hty.2	-	8	685	c.623A>G	c.(622-624)GAC>GGC	p.D208G	KY_uc011blw.1_Missense_Mutation_p.D208G|KY_uc011blx.1_Missense_Mutation_p.D187G|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	208						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135720924	135720924	+	Missense_Mutation	SNP	C	T	T	rs138854105		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135720924C>T	uc003eqv.1	+	2	1149	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	195					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721357	135721357	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135721357G>A	uc003eqv.1	+	2	1582	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	339					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135870699	135870699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135870699G>A	uc003eqx.1	-	2	1757	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	MSL2_uc011bmb.1_Nonsense_Mutation_p.R268*	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	342					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136152490	136152490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136152490G>A	uc003era.1	-	16	1850	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	STAG1_uc003erb.1_Missense_Mutation_p.R520C|STAG1_uc003erc.1_Missense_Mutation_p.R294C|STAG1_uc010hua.1_Missense_Mutation_p.R383C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	520					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136323179	136323179	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136323179A>G	uc003era.1	-	4	561	c.269T>C	c.(268-270)GTG>GCG	p.V90A	STAG1_uc003erb.1_Missense_Mutation_p.V90A|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.V90A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	90					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136665098	136665098	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136665098A>G	uc003erh.2	+	3	1007	c.900A>G	c.(898-900)GGA>GGG	p.G300G	NCK1_uc011bme.1_Silent_p.G236G	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	300	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1																		---	---	---	---
IL20RB	53833	broad.mit.edu	37	3	136699431	136699431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136699431A>G	uc003eri.1	+	2	461	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	71	Fibronectin type-III 1.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1																		---	---	---	---
CLDN18	51208	broad.mit.edu	37	3	137749876	137749876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137749876G>A	uc003ero.1	+	5	732	c.679G>A	c.(679-681)GCC>ACC	p.A227T	CLDN18_uc003erp.1_Missense_Mutation_p.A227T|CLDN18_uc010hue.1_Missense_Mutation_p.A183T	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	227	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137991841	137991841	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137991841A>G	uc003esa.1	+	18	1837	c.1470A>G	c.(1468-1470)AAA>AAG	p.K490K	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.K473K|ARMC8_uc011bmg.1_Silent_p.K437K|ARMC8_uc011bmh.1_Silent_p.K431K|ARMC8_uc003esb.1_Silent_p.K462K|ARMC8_uc003esc.1_Silent_p.K262K|ARMC8_uc003esf.1_Silent_p.K73K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	504	ARM 11.						binding				0																		---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138117299	138117299	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138117299T>C	uc003esh.3	+						MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Intron|MRAS_uc011bmj.1_Intron	NM_012219	NP_036351			muscle RAS oncogene homolog precursor						actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138183274	138183274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138183274G>A	uc003esk.2	+	9	1229	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	335	C2 1.					integral to membrane|plasma membrane					0																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138191352	138191352	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138191352C>T	uc003esk.2	+	18	2114	c.1888C>T	c.(1888-1890)CCC>TCC	p.P630S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	630						integral to membrane|plasma membrane					0																		---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138224301	138224301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138224301A>G	uc003esl.2	-	13	1255	c.1057T>C	c.(1057-1059)TGT>CGT	p.C353R	CEP70_uc011bmk.1_Missense_Mutation_p.C333R|CEP70_uc011bml.1_Missense_Mutation_p.C335R|CEP70_uc011bmm.1_Missense_Mutation_p.C201R|CEP70_uc003esm.2_Missense_Mutation_p.C353R	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	353					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138383975	138383975	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138383975T>C	uc011bmq.1	-	18	2575	c.2575A>G	c.(2575-2577)ACA>GCA	p.T859A	PIK3CB_uc011bmn.1_Missense_Mutation_p.T371A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T310A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T446A	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	859	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138409870	138409870	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138409870T>A	uc011bmq.1	-	13	2008	c.2008A>T	c.(2008-2010)ATA>TTA	p.I670L	PIK3CB_uc011bmn.1_Missense_Mutation_p.I182L|PIK3CB_uc011bmo.1_Missense_Mutation_p.I116L|PIK3CB_uc011bmp.1_Missense_Mutation_p.I257L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	670	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138453548	138453548	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138453548T>G	uc011bmq.1	-	5	900	c.900A>C	c.(898-900)ATA>ATC	p.I300I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	300					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138461549	138461549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138461549C>T	uc011bmq.1	-	3	472	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	158					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
C3orf72	401089	broad.mit.edu	37	3	138669110	138669110	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138669110C>T	uc003esx.1	+	3	355	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	75											0																		---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163724	141163724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163724A>G	uc003etw.2	+	8	3476	c.2494A>G	c.(2494-2496)AAT>GAT	p.N832D	ZBTB38_uc010hun.2_Missense_Mutation_p.N829D|ZBTB38_uc010huo.2_Missense_Mutation_p.N832D|ZBTB38_uc003ety.2_Missense_Mutation_p.N832D|ZBTB38_uc010hup.2_Missense_Mutation_p.N833D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	832					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141277721	141277721	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141277721T>C	uc003etz.1	+						RASA2_uc010huq.1_Intron|RASA2_uc003eua.1_Intron|RASA2_uc011bnc.1_Intron	NM_006506	NP_006497			RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141497221	141497221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141497221G>A	uc011bnd.1	+	1	179	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141671866	141671866	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141671866A>G	uc003eun.3	-						TFDP2_uc003euk.3_Intron|TFDP2_uc010hur.2_Intron|TFDP2_uc003eul.3_Intron|TFDP2_uc011bnf.1_Intron|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_Intron	NM_006286	NP_006277			transcription factor Dp-2 (E2F dimerization						cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141678643	141678643	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141678643G>C	uc003eun.3	-	11	1303	c.924C>G	c.(922-924)ATC>ATG	p.I308M	TFDP2_uc003euk.3_Missense_Mutation_p.I221M|TFDP2_uc010hur.2_Missense_Mutation_p.I248M|TFDP2_uc003eul.3_Missense_Mutation_p.I248M|TFDP2_uc011bnf.1_Missense_Mutation_p.I211M|TFDP2_uc011bng.1_Missense_Mutation_p.I172M|TFDP2_uc003eum.3_Missense_Mutation_p.I248M	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	308	DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142037739	142037739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142037739T>C	uc003eus.2	-	38	4475	c.4408A>G	c.(4408-4410)ACC>GCC	p.T1470A	XRN1_uc010huu.2_Missense_Mutation_p.T937A|XRN1_uc003eut.2_Missense_Mutation_p.T1470A|XRN1_uc003euu.2_Missense_Mutation_p.T1471A	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1470					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ATR	545	broad.mit.edu	37	3	142186802	142186802	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142186802T>C	uc003eux.3	-	39	6783	c.6661A>G	c.(6661-6663)AAG>GAG	p.K2221E	ATR_uc003euy.1_Missense_Mutation_p.K107E	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2221					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
ATR	545	broad.mit.edu	37	3	142242991	142242991	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142242991G>T	uc003eux.3	-	22	4118	c.3996C>A	c.(3994-3996)ATC>ATA	p.I1332I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1332	HEAT 2.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840751	142840751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142840751C>T	uc003evm.2	+	2	1982	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	365	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142841186	142841186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142841186C>T	uc003evm.2	+	2	2417	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	510	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143185920	143185920	+	Silent	SNP	A	G	G	rs61734421	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143185920A>G	uc003evn.2	-	12	1610	c.1428T>C	c.(1426-1428)TTT>TTC	p.F476F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	476	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143513844	143513844	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143513844C>A	uc003evn.2	-	4	714	c.532G>T	c.(532-534)GGG>TGG	p.G178W	SLC9A9_uc011bnk.1_Missense_Mutation_p.G52W	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	178	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145824343	145824343	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145824343T>G	uc003evs.1	-	5	1097	c.591A>C	c.(589-591)AAA>AAC	p.K197N	PLOD2_uc011bnm.1_Missense_Mutation_p.K142N|PLOD2_uc003evr.1_Missense_Mutation_p.K197N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	197					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146234850	146234850	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146234850G>A	uc003evx.3	-	8	1231	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLSCR1_uc003evy.3_Silent_p.F274F|PLSCR1_uc011bnn.1_Silent_p.F200F|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	281	Cytoplasmic.			F->A: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling.	phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128883	147128883	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147128883T>C	uc003ewe.2	+	1	1701	c.982_splice	c.e1+2	p.G328_splice		NM_003412	NP_003403			zinc finger protein of the cerebellum 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148750057	148750057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148750057C>T	uc003ewq.1	-	25	3198	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K	HLTF_uc003ewr.1_Missense_Mutation_p.E994K|HLTF_uc003ews.1_Missense_Mutation_p.E993K|HLTF_uc010hve.1_Missense_Mutation_p.E993K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	994	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148766639	148766639	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148766639G>A	uc003ewq.1	-						HLTF_uc003ewr.1_Intron|HLTF_uc003ews.1_Intron|HLTF_uc010hve.1_Intron	NM_139048	NP_620636			helicase-like transcription factor						chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
CP	1356	broad.mit.edu	37	3	148894077	148894077	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148894077A>G	uc003ewy.3	-	18	3394	c.3141T>C	c.(3139-3141)CAT>CAC	p.H1047H	CP_uc011bnr.1_Intron|CP_uc003eww.3_3'UTR|CP_uc003ewx.3_Silent_p.H828H	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	1047	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
CP	1356	broad.mit.edu	37	3	148896212	148896212	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148896212A>T	uc003ewy.3	-	16	3121	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.N108K|CP_uc003ewx.3_Missense_Mutation_p.N737K|CP_uc003ewz.2_Missense_Mutation_p.N956K	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	956	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
TM4SF18	116441	broad.mit.edu	37	3	149051032	149051032	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149051032G>A	uc003exa.2	-	2	275	c.138C>T	c.(136-138)TAC>TAT	p.Y46Y		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	46	Extracellular (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149374675	149374675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149374675C>A	uc003exe.2	-	1	435	c.419G>T	c.(418-420)AGG>ATG	p.R140M	WWTR1_uc003exf.2_Missense_Mutation_p.R140M|WWTR1_uc011bns.1_Missense_Mutation_p.R140M|WWTR1_uc003exh.2_Missense_Mutation_p.R140M|uc010hvg.1_5'Flank|uc003exi.1_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	140	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149468597	149468597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149468597T>C	uc003exk.2	-	4	317	c.270A>G	c.(268-270)GGA>GGG	p.G90G		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	90							protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
RNF13	11342	broad.mit.edu	37	3	149678562	149678562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149678562A>G	uc003exn.3	+	11	1601	c.817A>G	c.(817-819)AAA>GAA	p.K273E	RNF13_uc003exp.3_Missense_Mutation_p.K273E|RNF13_uc010hvh.2_Missense_Mutation_p.K154E	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	273	Cytoplasmic (Potential).|RING-type; atypical.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149686261	149686261	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149686261T>C	uc003ext.1	-	2	307	c.209A>G	c.(208-210)AAA>AGA	p.K70R	PFN2_uc003exs.1_Missense_Mutation_p.K21R|PFN2_uc003exu.1_Missense_Mutation_p.K70R|PFN2_uc011bnu.1_Missense_Mutation_p.K70R	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	70					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150282089	150282089	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150282089T>G	uc003eya.2	+	6	412	c.396T>G	c.(394-396)TGT>TGG	p.C132W	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.C5W|EIF2A_uc003eyc.2_Missense_Mutation_p.C5W|EIF2A_uc011bnv.1_Missense_Mutation_p.C107W|EIF2A_uc011bnw.1_Intron|EIF2A_uc003eyd.2_5'UTR	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	132	WD 2.				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150460021	150460021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150460021G>A	uc003eyi.2	-	2	1509	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150845683	150845683	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150845683A>G	uc003eyp.2	+	4	506	c.468A>G	c.(466-468)GCA>GCG	p.A156A	MED12L_uc011bnz.1_Silent_p.A156A|MED12L_uc003eym.1_Silent_p.A156A|MED12L_uc003eyn.2_Silent_p.A156A|MED12L_uc003eyo.2_Silent_p.A156A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150874007	150874007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150874007T>C	uc003eyp.2	+	5	654	c.616T>C	c.(616-618)TAC>CAC	p.Y206H	MED12L_uc011bnz.1_Missense_Mutation_p.Y206H|MED12L_uc003eym.1_Missense_Mutation_p.Y206H|MED12L_uc003eyn.2_Missense_Mutation_p.Y206H|MED12L_uc003eyo.2_Missense_Mutation_p.Y206H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	206					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150881670	150881670	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150881670T>C	uc003eyp.2	+						MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Intron|MED12L_uc003eyo.2_Intron	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012189	151012189	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012189C>A	uc003eyt.2	-	3	1206	c.845G>T	c.(844-846)AGG>ATG	p.R282M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	282	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012373	151012373	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012373T>C	uc003eyt.2	-	3	1022	c.661A>G	c.(661-663)ATT>GTT	p.I221V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	221	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046686	151046686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151046686A>G	uc003eyv.2	-	2	179	c.158T>C	c.(157-159)GTG>GCG	p.V53A	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	53	Helical; Name=1; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)															---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055700	151055700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055700T>C	uc003eyw.1	-	2	1150	c.934A>G	c.(934-936)ATG>GTG	p.M312V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.M312V	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	312	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055985	151055985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055985A>G	uc003eyw.1	-	2	865	c.649T>C	c.(649-651)TAC>CAC	p.Y217H	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.Y217H	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	217	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151085503	151085503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151085503T>C	uc003eyp.2	+	22	3330	c.3292T>C	c.(3292-3294)TCC>CCC	p.S1098P	MED12L_uc011bnz.1_Missense_Mutation_p.S958P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S261P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1098					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151102876	151102876	+	Missense_Mutation	SNP	T	C	C	rs61740424		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151102876T>C	uc003eyp.2	+	34	4918	c.4880T>C	c.(4879-4881)TTG>TCG	p.L1627S	MED12L_uc011bnz.1_Missense_Mutation_p.L1487S|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.L790S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1627					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151129193	151129193	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151129193A>G	uc003eyp.2	+	39	5971	c.5933A>G	c.(5932-5934)AAC>AGC	p.N1978S	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1978	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161304	151161304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151161304T>C	uc011bod.1	-	5	5431	c.5431A>G	c.(5431-5433)AGT>GGT	p.S1811G	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1811	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164151	151164151	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164151T>A	uc011bod.1	-	4	3618	c.3618A>T	c.(3616-3618)CAA>CAT	p.Q1206H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1206					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458527	151458527	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458527T>A	uc003ezc.2	+	2	352	c.232T>A	c.(232-234)TAC>AAC	p.Y78N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	78						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458575	151458575	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458575T>A	uc003ezc.2	+	2	400	c.280T>A	c.(280-282)TAC>AAC	p.Y94N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	94						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151474982	151474982	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151474982A>C	uc003ezc.2	+	5	926	c.806A>C	c.(805-807)CAC>CCC	p.H269P	AADACL2_uc010hvn.2_Missense_Mutation_p.H56P	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	269						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
SUCNR1	56670	broad.mit.edu	37	3	151598454	151598454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151598454T>A	uc003ezf.1	+	3	222	c.123T>A	c.(121-123)AAT>AAA	p.N41K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)													---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152554074	152554074	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152554074C>T	uc003ezq.2	+	1	1339	c.503C>T	c.(502-504)GCG>GTG	p.A168V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	168	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)															---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153840495	153840495	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153840495C>G	uc011bog.1	+	2	925	c.714C>G	c.(712-714)AAC>AAG	p.N238K	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.N238K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	238					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154007584	154007584	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154007584T>G	uc003ezy.3	-	16	1927	c.1846A>C	c.(1846-1848)AAT>CAT	p.N616H	DHX36_uc010hvq.2_Missense_Mutation_p.N602H|DHX36_uc003ezz.3_Missense_Mutation_p.N616H	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	616	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154033048	154033048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154033048A>G	uc003ezy.3	-	3	471	c.390T>C	c.(388-390)ACT>ACC	p.T130T	DHX36_uc010hvq.2_Silent_p.T130T|DHX36_uc003ezz.3_Silent_p.T130T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	130	Potential.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154146892	154146892	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154146892G>T	uc003faa.2	-	1	613	c.513C>A	c.(511-513)GGC>GGA	p.G171G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
MME	4311	broad.mit.edu	37	3	154834710	154834710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154834710A>G	uc010hvr.1	+	7	800	c.589A>G	c.(589-591)AAA>GAA	p.K197E	MME_uc003fab.1_Missense_Mutation_p.K197E|MME_uc003fac.1_Missense_Mutation_p.K197E|MME_uc003fad.1_Missense_Mutation_p.K197E|MME_uc003fae.1_Missense_Mutation_p.K197E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	197	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155199955	155199955	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155199955G>T	uc011bok.1	-	23	4161	c.3884C>A	c.(3883-3885)GCC>GAC	p.A1295D	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.A1257D	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1295					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155210593	155210593	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155210593C>T	uc011bok.1	-	17	2473	c.2196G>A	c.(2194-2196)AAG>AAA	p.K732K	PLCH1_uc011boj.1_Silent_p.K732K|PLCH1_uc011bol.1_Silent_p.K714K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	732	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232571	155232571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232571A>G	uc011bok.1	-	11	1814	c.1537T>C	c.(1537-1539)TTC>CTC	p.F513L	PLCH1_uc011boj.1_Missense_Mutation_p.F513L|PLCH1_uc011bol.1_Missense_Mutation_p.F495L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	513					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232581	155232581	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232581A>T	uc011bok.1	-	11	1804	c.1527T>A	c.(1525-1527)GAT>GAA	p.D509E	PLCH1_uc011boj.1_Missense_Mutation_p.D509E|PLCH1_uc011bol.1_Missense_Mutation_p.D491E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	509					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155314063	155314063	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155314063G>A	uc011bok.1	-	2	425	c.148C>T	c.(148-150)CGC>TGC	p.R50C	PLCH1_uc011boj.1_Missense_Mutation_p.R50C|PLCH1_uc011bol.1_Missense_Mutation_p.R32C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	50	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155551721	155551721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155551721A>G	uc003fan.3	-	3	1454	c.1073T>C	c.(1072-1074)ATA>ACA	p.I358T	SLC33A1_uc003fao.1_Missense_Mutation_p.I358T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	358	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155571069	155571069	+	Missense_Mutation	SNP	A	G	G	rs145201278		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155571069A>G	uc003fan.3	-	1	1099	c.718T>C	c.(718-720)TTT>CTT	p.F240L	SLC33A1_uc003fao.1_Missense_Mutation_p.F240L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	240	Extracellular (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
GMPS	8833	broad.mit.edu	37	3	155624029	155624029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155624029C>T	uc003faq.2	+	5	838	c.503C>T	c.(502-504)GCA>GTA	p.A168V	GMPS_uc011bom.1_Missense_Mutation_p.A69V	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	168	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			T	MLL	AML								---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156139398	156139398	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156139398A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156170729	156170729	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156170729A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156241671	156241671	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156241671A>C	uc003far.2	+	12	1080	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	KCNAB1_uc011bon.1_Missense_Mutation_p.N310T|KCNAB1_uc003fas.2_Missense_Mutation_p.N328T|KCNAB1_uc003fat.2_Missense_Mutation_p.N321T|KCNAB1_uc010hvt.1_Missense_Mutation_p.N292T|KCNAB1_uc011boo.1_Missense_Mutation_p.N215T	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	339						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	156979019	156979019	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156979019C>A	uc003fbj.1	-	14	2723	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	VEPH1_uc003fbk.1_Missense_Mutation_p.K802N|VEPH1_uc010hvu.1_Missense_Mutation_p.K757N	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	802	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157031509	157031509	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157031509A>G	uc003fbj.1	-	11	2228	c.1911T>C	c.(1909-1911)CAT>CAC	p.H637H	VEPH1_uc003fbk.1_Silent_p.H637H|VEPH1_uc010hvu.1_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	637						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158369951	158369951	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158369951G>A	uc003fce.2	+	6	863	c.756G>A	c.(754-756)GAG>GAA	p.E252E	GFM1_uc003fcd.2_Silent_p.E252E|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.E183E	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	252					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158408121	158408121	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158408121T>A	uc003fce.2	+						GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron	NM_024996	NP_079272			G elongation factor, mitochondrial 1 precursor						mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160099392	160099392	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160099392A>G	uc011boy.1	-	3	591	c.158T>C	c.(157-159)CTT>CCT	p.L53P	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	53						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160122366	160122366	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160122366T>A	uc003fdh.2	+						IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Intron|SMC4_uc003fdg.1_Intron|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Intron|SMC4_uc010hwd.2_Intron|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800			SMC4 structural maintenance of chromosomes						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160146611	160146611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160146611A>G	uc003fdh.2	+	18	2789	c.2676A>G	c.(2674-2676)GTA>GTG	p.V892V	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.V867V|SMC4_uc003fdj.2_Silent_p.V892V|SMC4_uc010hwd.2_Silent_p.V892V|SMC4_uc003fdl.2_Silent_p.V595V	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	892	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160155817	160155817	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160155817T>C	uc003fdm.2	-	3	1350	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	IFT80_uc003fda.2_Intron	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	385						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160951189	160951189	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160951189A>G	uc003feb.1	+	5	398	c.279A>G	c.(277-279)GTA>GTG	p.V93V	NMD3_uc003fec.2_Silent_p.V93V|NMD3_uc003fed.1_Silent_p.V93V|NMD3_uc010hwh.2_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	93					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
Unknown	0	broad.mit.edu	37	3	161146942	161146942	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:161146942A>G								C3orf57 (57071 upstream) : OTOL1 (67654 downstream)																																			---	---	---	---
SI	6476	broad.mit.edu	37	3	164750471	164750471	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164750471C>G	uc003fei.2	-	24	2637	c.2575G>C	c.(2575-2577)GAT>CAT	p.D859H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	859	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164764647	164764647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164764647A>G	uc003fei.2	-	16	1931	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	623	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164772976	164772976	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164772976A>G	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906123	164906123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906123C>T	uc003fej.3	-	2	2940	c.2496G>A	c.(2494-2496)ACG>ACA	p.T832T	SLITRK3_uc003fek.2_Silent_p.T832T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	832	Cytoplasmic (Potential).					integral to membrane		p.T832M(1)		ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547744	165547744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165547744A>G	uc003fem.3	-	2	1238	c.1078T>C	c.(1078-1080)TAT>CAT	p.Y360H	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	360					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189553	167189553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189553G>A	uc003fer.1	-	1	128	c.70C>T	c.(70-72)CAA>TAA	p.Q24*	SERPINI2_uc003fes.1_Nonsense_Mutation_p.Q34*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q24*	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	24					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167422672	167422672	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167422672T>A	uc003fex.2	-	4	506	c.108A>T	c.(106-108)GTA>GTT	p.V36V	PDCD10_uc003fez.2_Silent_p.V36V|PDCD10_uc003fey.2_Silent_p.V36V	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	36					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833263	168833263	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168833263T>C	uc003ffi.3	-	7	2102	c.1833A>G	c.(1831-1833)GGA>GGG	p.G611G	MECOM_uc010hwk.1_Silent_p.G634G|MECOM_uc003ffj.3_Silent_p.G676G|MECOM_uc011bpi.1_Silent_p.G612G|MECOM_uc003ffn.3_Silent_p.G611G|MECOM_uc003ffk.2_Silent_p.G611G|MECOM_uc003ffl.2_Silent_p.G771G|MECOM_uc011bpj.1_Silent_p.G799G|MECOM_uc011bpk.1_Silent_p.G601G|MECOM_uc010hwn.2_Silent_p.G799G	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	611					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168864280	168864280	+	5'Flank	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168864280C>T	uc003ffi.3	-						MECOM_uc003ffj.3_5'Flank|MECOM_uc011bpi.1_5'Flank|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_5'Flank	NM_005241	NP_005232			MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	169099286	169099286	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169099286G>A	uc011bpj.1	-	2	467	c.64C>T	c.(64-66)CCT>TCT	p.P22S	MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P22S|MECOM_uc011bpl.1_Missense_Mutation_p.P22S	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R22C(1)		lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169497203	169497203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169497203A>G	uc003fft.2	+	3	1343	c.914A>G	c.(913-915)AAC>AGC	p.N305S	MYNN_uc011bpm.1_Missense_Mutation_p.N191S|MYNN_uc003ffu.2_Missense_Mutation_p.N305S|MYNN_uc003ffv.2_Missense_Mutation_p.N32S|MYNN_uc010hwo.2_Missense_Mutation_p.N305S|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	305	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169574164T>A	uc003fgc.1	-	5	860	c.783A>T	c.(781-783)TTA>TTT	p.L261F	LRRC31_uc010hwp.1_Missense_Mutation_p.L205F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261	LRR 2.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169801907	169801907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169801907C>T	uc003fgi.2	+	4	737	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPR160_uc010hwq.2_Silent_p.N49N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169802241	169802241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169802241T>C	uc003fgi.2	+	4	1071	c.481T>C	c.(481-483)TAC>CAC	p.Y161H	GPR160_uc010hwq.2_Missense_Mutation_p.Y161H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	161	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169831155	169831155	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169831155A>G	uc010hws.1	-	11	2374	c.2310T>C	c.(2308-2310)ATT>ATC	p.I770I	PHC3_uc003fgl.2_Silent_p.I782I|PHC3_uc011bpq.1_Silent_p.I729I	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	770					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	169953064	169953064	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169953064C>A	uc003fgs.2	+	2	386	c.148C>A	c.(148-150)CTT>ATT	p.L50I		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	50	Regulatory domain.|OPR.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170219127	170219127	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170219127G>T	uc003fgz.2	-	3	628	c.312C>A	c.(310-312)TGC>TGA	p.C104*	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	104						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170244439	170244439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170244439A>T	uc003fgz.2	-	2	603	c.287T>A	c.(286-288)GTC>GAC	p.V96D	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	96	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170885049	170885049	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170885049A>T	uc003fhh.2	-	10	1129	c.784T>A	c.(784-786)TTC>ATC	p.F262I	TNIK_uc003fhi.2_Missense_Mutation_p.F262I|TNIK_uc003fhj.2_Missense_Mutation_p.F262I|TNIK_uc003fhk.2_Missense_Mutation_p.F262I|TNIK_uc003fhl.2_Missense_Mutation_p.F262I|TNIK_uc003fhm.2_Missense_Mutation_p.F262I|TNIK_uc003fhn.2_Missense_Mutation_p.F262I|TNIK_uc003fho.2_Missense_Mutation_p.F262I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	262	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170945964	170945964	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170945964T>A	uc003fhh.2	-	3	515	c.170A>T	c.(169-171)GAT>GTT	p.D57V	TNIK_uc003fhi.2_Missense_Mutation_p.D57V|TNIK_uc003fhj.2_Missense_Mutation_p.D57V|TNIK_uc003fhk.2_Missense_Mutation_p.D57V|TNIK_uc003fhl.2_Missense_Mutation_p.D57V|TNIK_uc003fhm.2_Missense_Mutation_p.D57V|TNIK_uc003fhn.2_Missense_Mutation_p.D57V|TNIK_uc003fho.2_Missense_Mutation_p.D57V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	57	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171455832	171455832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171455832T>C	uc003fhs.2	-	2	126	c.10A>G	c.(10-12)AAA>GAA	p.K4E	PLD1_uc003fht.2_Missense_Mutation_p.K4E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	4					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172055197	172055197	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172055197G>T	uc003fhy.2	+						FNDC3B_uc003fhz.3_Intron|FNDC3B_uc003fia.2_Missense_Mutation_p.V551F	NM_022763	NP_073600			fibronectin type III domain containing 3B							endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165751	172165751	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172165751G>A	uc003fib.1	-	1	453	c.453C>T	c.(451-453)GCC>GCT	p.A151A	GHSR_uc011bpv.1_Silent_p.A151A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	151	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172473166	172473166	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172473166T>C	uc003fii.2	+	3	348	c.210_splice	c.e3+2	p.K70_splice	ECT2_uc010hwv.1_Splice_Site_p.K70_splice|ECT2_uc003fih.2_Splice_Site_p.K69_splice|ECT2_uc003fij.1_Splice_Site_p.K70_splice|ECT2_uc003fik.1_Splice_Site_p.K70_splice|ECT2_uc003fil.1_Splice_Site_p.K70_splice	NM_018098	NP_060568			epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172482158	172482158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172482158C>T	uc003fii.2	+	11	1204	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	ECT2_uc010hwv.1_Missense_Mutation_p.L387F|ECT2_uc003fih.2_Missense_Mutation_p.L355F|ECT2_uc003fij.1_Missense_Mutation_p.L356F|ECT2_uc003fik.1_Missense_Mutation_p.L356F|ECT2_uc003fil.1_Missense_Mutation_p.L387F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	356					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172607409C>T	uc003fin.3	-	11	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)															---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173999064	173999064	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173999064C>T	uc003fio.1	+	7	2866	c.2443C>T	c.(2443-2445)CCC>TCC	p.P815S	NLGN1_uc003fip.1_Missense_Mutation_p.P815S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	832	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178748682	178748682	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178748682G>T	uc003fjg.2	-	3	635	c.376C>A	c.(376-378)CCA>ACA	p.P126T	ZMAT3_uc010hxa.2_Missense_Mutation_p.P126T|ZMAT3_uc003fji.2_Missense_Mutation_p.P126T	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	126					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)															---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178917660	178917660	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178917660A>G	uc003fjk.2	+	3	692	c.535A>G	c.(535-537)AAG>GAG	p.K179E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	179	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K179T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921493	178921493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178921493A>G	uc003fjk.2	+	5	1132	c.975A>G	c.(973-975)AAA>AAG	p.K325K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	325					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178927472	178927472	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178927472G>A	uc003fjk.2	+	7	1392	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	412	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936097	178936097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178936097G>A	uc003fjk.2	+	10	1796	c.1639G>A	c.(1639-1641)GAG>AAG	p.E547K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	547	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E547K(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	G	G	rs121913279		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179052007	179052007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179052007T>C	uc003fjq.1	+	6	1598	c.1255T>C	c.(1255-1257)TGC>CGC	p.C419R	ZNF639_uc003fjr.1_Missense_Mutation_p.C419R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	419	Interaction with CTNNA2.|C2H2-type 6.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179093044	179093044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179093044G>A	uc003fjs.2	+	10	1138	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E366K|MFN1_uc010hxc.2_Missense_Mutation_p.E191K	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	338	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179095217	179095217	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179095217T>C	uc003fjs.2	+	12	1436	c.1310T>C	c.(1309-1311)GTA>GCA	p.V437A	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V465A|MFN1_uc010hxc.2_Missense_Mutation_p.V290A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	437	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179104341	179104341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179104341T>C	uc003fjs.2	+	16	2062	c.1936T>C	c.(1936-1938)TTT>CTT	p.F646L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F674L|MFN1_uc010hxc.2_Missense_Mutation_p.F388L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	646	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292257	179292257	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179292257T>C	uc003fjw.2	+	5	649	c.476_splice	c.e5+2	p.A159_splice	ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice	NM_004301	NP_004292			actin-like 6A isoform 1						chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179294685	179294685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179294685A>G	uc003fjw.2	+	8	925	c.752A>G	c.(751-753)CAC>CGC	p.H251R	ACTL6A_uc003fjx.2_Missense_Mutation_p.H209R|ACTL6A_uc003fjy.2_Missense_Mutation_p.H209R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	251					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179310501	179310501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179310501G>A	uc003fjz.2	-	6	582	c.560C>T	c.(559-561)CCT>CTT	p.P187L	MRPL47_uc003fka.2_Missense_Mutation_p.P77L|MRPL47_uc003fkb.2_Missense_Mutation_p.P167L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	187					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180322027A>C	uc003fkk.2	+	4	633	c.501A>C	c.(499-501)TTA>TTC	p.L167F	TTC14_uc003fkl.2_Missense_Mutation_p.L167F|TTC14_uc003fkm.2_Missense_Mutation_p.L167F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	167	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327713	180327713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180327713T>C	uc003fkk.2	+	12	1828	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.Y566H	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	566							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180364906	180364906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180364906A>G	uc010hxe.2	-	11	1603	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	496	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666128	180666128	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180666128C>A	uc003fkq.2	+						FXR1_uc003fkp.2_Intron|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Intron|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Intron	NM_005087	NP_005078			fragile X mental retardation-related protein 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180686004	180686004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180686004G>A	uc003fkq.2	+	14	1386	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	FXR1_uc003fkp.2_Missense_Mutation_p.R370H|FXR1_uc003fkr.2_Missense_Mutation_p.R455H|FXR1_uc011bqj.1_Missense_Mutation_p.R369H|FXR1_uc003fks.2_Missense_Mutation_p.R398H|FXR1_uc011bqk.1_Missense_Mutation_p.R406H|FXR1_uc011bql.1_Missense_Mutation_p.R442H	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	455	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
DNAJC19	131118	broad.mit.edu	37	3	180703789	180703789	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180703789T>C	uc003fkt.2	-						DNAJC19_uc003fku.2_Intron	NM_145261	NP_660304			DnaJ homolog, subfamily C, member 19						genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182598714	182598714	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182598714T>A	uc003flb.2	+	21	2711	c.2454T>A	c.(2452-2454)GCT>GCA	p.A818A	ATP11B_uc003flc.2_Silent_p.A402A|ATP11B_uc011bqm.1_Silent_p.A122A|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	818	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182605474	182605474	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182605474T>C	uc003flb.2	+	24	3073	c.2816T>C	c.(2815-2817)GTG>GCG	p.V939A	ATP11B_uc003flc.2_Missense_Mutation_p.V523A|ATP11B_uc011bqm.1_Silent_p.C219C|ATP11B_uc010hxf.1_Missense_Mutation_p.V101A	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	939	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183013131	183013131	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183013131T>C	uc003fli.1	-	13	1722	c.1632A>G	c.(1630-1632)TCA>TCG	p.S544S	MCF2L2_uc003flj.1_Silent_p.S544S|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	544					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183209848	183209848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183209848C>T	uc003flr.2	-	7	1791	c.1733G>A	c.(1732-1734)TGC>TAC	p.C578Y	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	578	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183368392	183368392	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183368392T>C	uc003flv.2	+	3	543	c.248T>C	c.(247-249)GTG>GCG	p.V83A	KLHL24_uc003flw.2_Missense_Mutation_p.V83A|KLHL24_uc003flx.2_Missense_Mutation_p.V83A	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	83	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183390214	183390214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183390214A>G	uc003flv.2	+	7	1839	c.1544A>G	c.(1543-1545)TAC>TGC	p.Y515C	KLHL24_uc003flw.2_Missense_Mutation_p.Y515C|KLHL24_uc003flx.2_Missense_Mutation_p.Y515C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	515	Kelch 5.			Y -> C (in Ref. 3; BAB15447).		axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183435470	183435470	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183435470T>C	uc003fly.2	+	3	327	c.132T>C	c.(130-132)ACT>ACC	p.T44T		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	44					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183479352	183479352	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183479352A>G	uc003fly.2	+	14	1909	c.1714A>G	c.(1714-1716)AAG>GAG	p.K572E		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183660562	183660562	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183660562G>A	uc003fmg.2	-	25	3812	c.3647C>T	c.(3646-3648)ACG>ATG	p.T1216M	ABCC5_uc011bqt.1_Missense_Mutation_p.T744M|ABCC5_uc010hxl.2_Missense_Mutation_p.T1173M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1216	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183663738	183663738	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183663738A>C	uc003fmg.2	-						ABCC5_uc011bqt.1_Intron|ABCC5_uc010hxl.2_Intron	NM_005688	NP_005679			ATP-binding cassette, sub-family C, member 5							integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700588	183700588	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183700588T>A	uc003fmg.2	-	6	964	c.799A>T	c.(799-801)AAC>TAC	p.N267Y	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.N267Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	267	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183854437	183854437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183854437A>G	uc003fmp.2	+	2	597	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	EIF2B5_uc010hxs.2_Missense_Mutation_p.Y78C|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	78					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183911336	183911336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183911336G>A	uc003fmz.2	+	21	2113	c.1980G>A	c.(1978-1980)GTG>GTA	p.V660V	ABCF3_uc003fna.2_Silent_p.V654V|ABCF3_uc003fnb.2_Silent_p.V341V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	660	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183976238	183976238	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183976238G>A	uc003fni.3	+						ECE2_uc003fnh.3_Missense_Mutation_p.G215R	NM_014693	NP_055508			endothelin converting enzyme 2 isoform A						brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184025236	184025236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184025236C>T	uc003fnn.1	+	17	2159	c.2126C>T	c.(2125-2127)ACC>ATC	p.T709I	PSMD2_uc011brj.1_Missense_Mutation_p.T550I|PSMD2_uc011brk.1_Missense_Mutation_p.T579I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	709	PC 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046703	184046703	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184046703T>A	uc003fnp.2	+	28	4284	c.4086T>A	c.(4084-4086)ATT>ATA	p.I1362I	EIF4G1_uc003fnt.2_Silent_p.I1073I|EIF4G1_uc003fnq.2_Silent_p.I1275I|EIF4G1_uc003fnr.2_Silent_p.I1198I|EIF4G1_uc010hxx.2_Silent_p.I1369I|EIF4G1_uc003fns.2_Silent_p.I1322I|EIF4G1_uc010hxy.2_Silent_p.I1369I|EIF4G1_uc003fnv.3_Silent_p.I1363I|EIF4G1_uc003fnu.3_Silent_p.I1362I|EIF4G1_uc003fnw.2_Silent_p.I1369I|EIF4G1_uc003fnx.2_Silent_p.I1167I|EIF4G1_uc003fny.3_Silent_p.I1166I|EIF4G1_uc003foa.2_Silent_p.I34I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1362	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184049520	184049520	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184049520A>T	uc003fnp.2	+	31	4598	c.4400A>T	c.(4399-4401)AAC>ATC	p.N1467I	EIF4G1_uc003fnt.2_Missense_Mutation_p.N1178I|EIF4G1_uc003fnq.2_Missense_Mutation_p.N1380I|EIF4G1_uc003fnr.2_Missense_Mutation_p.N1303I|EIF4G1_uc010hxx.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fns.2_Missense_Mutation_p.N1427I|EIF4G1_uc010hxy.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnv.3_Missense_Mutation_p.N1468I|EIF4G1_uc003fnu.3_Missense_Mutation_p.N1467I|EIF4G1_uc003fnw.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnx.2_Missense_Mutation_p.N1272I|EIF4G1_uc003fny.3_Missense_Mutation_p.N1271I|EIF4G1_uc003foa.2_Missense_Mutation_p.N139I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1467	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184062678	184062678	+	Missense_Mutation	SNP	C	T	T	rs148217150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184062678C>T	uc003fog.2	+	3	2292	c.928C>T	c.(928-930)CGG>TGG	p.R310W	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Missense_Mutation_p.R256W|FAM131A_uc003foe.2_Missense_Mutation_p.R256W	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	310						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184069837	184069837	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184069837A>G	uc003foi.2	-	22	2503	c.2379T>C	c.(2377-2379)GCT>GCC	p.A793A	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Silent_p.A776A|CLCN2_uc011brl.1_Silent_p.A793A|CLCN2_uc011brm.1_Silent_p.A749A	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	793	CBS 2.|Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075458	184075458	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184075458G>A	uc003foi.2	-	7	846	c.722C>T	c.(721-723)GCT>GTT	p.A241V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A241V|CLCN2_uc011brl.1_Missense_Mutation_p.A241V|CLCN2_uc011brm.1_Missense_Mutation_p.A197V|CLCN2_uc011brn.1_Missense_Mutation_p.A241V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	241						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
THPO	7066	broad.mit.edu	37	3	184090537	184090537	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184090537A>G	uc003fol.1	-	6	1041	c.826T>C	c.(826-828)TCA>CCA	p.S276P	THPO_uc003fom.1_Missense_Mutation_p.S272P|THPO_uc003fon.2_Missense_Mutation_p.L237P|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.L233P|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.L197P	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	276					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184290963	184290963	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184290963C>T	uc003foz.2	+	3	1292	c.855C>T	c.(853-855)CGC>CGT	p.R285R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	285	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298290	184298290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184298290A>G	uc003foz.2	+	12	2710	c.2273A>G	c.(2272-2274)GAC>GGC	p.D758G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	758	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).				integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184632771	184632771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184632771G>A	uc003fpb.1	+	26	2357	c.2186G>A	c.(2185-2187)TGT>TAT	p.C729Y	VPS8_uc010hyd.1_Missense_Mutation_p.C639Y|VPS8_uc010hye.1_Missense_Mutation_p.C158Y	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	731							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910033	184910033	+	Missense_Mutation	SNP	G	A	A	rs140662313		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184910033G>A	uc003fpf.2	-	7	2180	c.2153C>T	c.(2152-2154)TCC>TTC	p.S718F	EHHADH_uc011brs.1_Missense_Mutation_p.S622F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922382	184922382	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184922382G>T	uc003fpf.2	-	6	759	c.732C>A	c.(730-732)CCC>CCA	p.P244P	EHHADH_uc011brs.1_Silent_p.P148P	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	244	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184935912	184935912	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184935912T>G	uc003fpf.2	-						EHHADH_uc011brs.1_Intron	NM_001966	NP_001957			enoyl-Coenzyme A, hydratase/3-hydroxyacyl							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
ETV5	2119	broad.mit.edu	37	3	185782253	185782253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185782253C>T	uc003fpz.2	-	9	1170	c.923G>A	c.(922-924)TGC>TAC	p.C308Y	ETV5_uc003fpy.2_Missense_Mutation_p.C350Y	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	308					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)					T	TMPRSS2|SCL45A3	Prostate 								---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185993329	185993329	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185993329T>C	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185997631	185997631	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185997631T>G	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
CRYGS	1427	broad.mit.edu	37	3	186256574	186256574	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186256574A>G	uc003fqe.2	-	3	500	c.448T>C	c.(448-450)TAC>CAC	p.Y150H	CRYGS_uc003fqf.2_Missense_Mutation_p.Y150H	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	150	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)														---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186364090	186364090	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186364090T>C	uc010hyq.2	+	6	909	c.648T>C	c.(646-648)TGT>TGC	p.C216C	FETUB_uc011brz.1_Silent_p.C68C|FETUB_uc003fqn.2_Silent_p.C216C|FETUB_uc003fqo.2_Silent_p.C111C|FETUB_uc010hyr.2_Silent_p.C179C|FETUB_uc010hys.2_Silent_p.C68C|FETUB_uc003fqp.3_Silent_p.C151C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	216	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)														---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186459531	186459531	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186459531G>A	uc011bsa.1	+	10	1558	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	449	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)													---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186505288	186505288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186505288G>A	uc003fqs.2	+	9	953	c.914G>A	c.(913-915)GGT>GAT	p.G305D	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.G306D|EIF4A2_uc003fqv.2_Missense_Mutation_p.G210D|EIF4A2_uc003fqw.2_Missense_Mutation_p.G210D|EIF4A2_uc011bsb.1_Missense_Mutation_p.G178D|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	305	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)				T	BCL6	NHL								---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690672	189690672	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690672C>T	uc011bsk.1	-	11	2078	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	LEPREL1_uc003fsg.2_Missense_Mutation_p.A383T	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	564	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690757	189690757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690757G>A	uc011bsk.1	-	11	1993	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	LEPREL1_uc003fsg.2_Silent_p.S354S	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	535					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190158100	190158100	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190158100T>A	uc003fsj.2	-	4	304	c.237A>T	c.(235-237)AGA>AGT	p.R79S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	79						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190341190	190341190	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190341190A>T	uc003fsm.1	+	7	967	c.761A>T	c.(760-762)TAT>TTT	p.Y254F	IL1RAP_uc003fsk.2_Missense_Mutation_p.Y254F|IL1RAP_uc003fsl.2_Missense_Mutation_p.Y254F|IL1RAP_uc010hzf.2_Missense_Mutation_p.Y113F|IL1RAP_uc010hzg.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.Y254F	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	254	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190366254	190366254	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190366254C>A	uc003fsm.1	+	12	1679	c.1473C>A	c.(1471-1473)GCC>GCA	p.A491A	IL1RAP_uc010hzg.1_Silent_p.A491A|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.A491A|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	491	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
OSTN	344901	broad.mit.edu	37	3	190930420	190930420	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190930420A>G	uc011bsn.1	+	1	99	c.99A>G	c.(97-99)ACA>ACG	p.T33T		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	33					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)														---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192125880	192125880	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192125880C>T	uc003fsx.2	-	1	959	c.133G>A	c.(133-135)GTC>ATC	p.V45I	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	45					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)														---	---	---	---
C3orf59	151963	broad.mit.edu	37	3	192516331	192516331	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516331T>A	uc011bsp.1	-	2	1641	c.1320A>T	c.(1318-1320)CCA>CCT	p.P440P		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	440											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193039614	193039614	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193039614C>A	uc011bsq.1	-	16	1771	c.1771G>T	c.(1771-1773)GCC>TCC	p.A591S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193071938	193071938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193071938A>G	uc011bsq.1	-	6	584	c.584T>C	c.(583-585)ATA>ACA	p.I195T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193210730	193210730	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193210730A>G	uc003ftd.2	-	5	617	c.509T>C	c.(508-510)TTG>TCG	p.L170S	ATP13A4_uc003fte.1_Missense_Mutation_p.L170S|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	170	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193353272	193353272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193353272G>A	uc003ftm.2	+	7	978	c.744G>A	c.(742-744)TTG>TTA	p.L248L	OPA1_uc003ftg.2_Silent_p.L303L|OPA1_uc003fth.2_Silent_p.L267L|OPA1_uc003fti.2_Silent_p.L285L|OPA1_uc003ftj.2_Silent_p.L266L|OPA1_uc003ftk.2_Silent_p.L249L|OPA1_uc003ftl.2_Silent_p.L230L|OPA1_uc003ftn.2_Silent_p.L212L	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	248	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062642	194062642	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194062642G>T	uc003fts.2	-	2	880	c.790C>A	c.(790-792)CTG>ATG	p.L264M		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	264					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)														---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	A	A	rs113394891	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194080147G>A	uc003ftu.2	-	2	1712	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	LRRC15_uc003ftt.2_Silent_p.A548A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	542	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)														---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118737	194118737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194118737C>A	uc003ftv.1	-	2	306	c.275G>T	c.(274-276)GGC>GTC	p.G92V		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	92	LRR 1.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)														---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194158135	194158135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194158135A>G	uc003fty.3	-	18	2306	c.1904T>C	c.(1903-1905)ATG>ACG	p.M635T	ATP13A3_uc003ftz.1_Missense_Mutation_p.M341T	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	635					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)														---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195485993	195485993	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195485993A>G	uc011bto.1	-	18	15062	c.14602_splice	c.e18+1	p.E4868_splice	MUC4_uc003fuz.2_Splice_Site_p.E594_splice|MUC4_uc003fva.2_Splice_Site_p.E476_splice|MUC4_uc003fvb.2_Splice_Site_p.E512_splice|MUC4_uc003fvc.2_Splice_Site|MUC4_uc003fvd.2_Splice_Site|MUC4_uc003fve.2_Splice_Site_p.E512_splice|MUC4_uc010hzr.2_Splice_Site|MUC4_uc011btf.1_Splice_Site_p.E476_splice|MUC4_uc011btg.1_Splice_Site|MUC4_uc011bth.1_Splice_Site_p.E560_splice|MUC4_uc011bti.1_Splice_Site_p.E560_splice|MUC4_uc011btj.1_Splice_Site_p.E737_splice|MUC4_uc011btk.1_Splice_Site_p.E476_splice|MUC4_uc011btl.1_Splice_Site_p.E505_splice|MUC4_uc011btm.1_Splice_Site_p.E685_splice|MUC4_uc011btn.1_Splice_Site_p.E476_splice|MUC4_uc003fvo.2_Splice_Site_p.E760_splice|MUC4_uc003fvp.2_Splice_Site_p.E709_splice	NM_018406	NP_060876			mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195785242	195785242	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195785242A>G	uc003fvz.3	-						TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron	NM_003234	NP_003225			transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)				T	BCL6	NHL								---	---	---	---
TM4SF19	116211	broad.mit.edu	37	3	196050829	196050829	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196050829G>A	uc003fwl.1	-	5	614	c.489C>T	c.(487-489)TGC>TGT	p.C163C	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.A32T|TM4SF19_uc010iad.1_Missense_Mutation_p.A162V|TM4SF19_uc011btv.1_Silent_p.C137C	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	163	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
FBXO45	200933	broad.mit.edu	37	3	196304328	196304328	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196304328G>A	uc010iai.2	+	2	454	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	108	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196612777	196612777	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196612777G>A	uc003fwz.3	+	2	974	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	SENP5_uc011bty.1_Missense_Mutation_p.R242Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196626927	196626927	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196626927T>C	uc003fwz.3	+	4	2001	c.1752T>C	c.(1750-1752)AAT>AAC	p.N584N	SENP5_uc011bty.1_Silent_p.N584N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	584	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196736663	196736663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196736663A>G	uc003fxk.3	-	11	1464	c.1351T>C	c.(1351-1353)TAC>CAC	p.Y451H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	451	Transferrin-like 2.	Iron 2 (By similarity).			cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196751234	196751234	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196751234G>A	uc003fxk.3	-	4	540	c.427C>T	c.(427-429)CCC>TCC	p.P143S	MFI2_uc003fxl.3_Missense_Mutation_p.P143S|MFI2_uc011bua.1_Missense_Mutation_p.P143S	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	143	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
DLG1	1739	broad.mit.edu	37	3	197023333	197023333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197023333A>G	uc003fxo.3	-	3	225	c.35T>C	c.(34-36)TTG>TCG	p.L12S	DLG1_uc003fxn.3_Missense_Mutation_p.L12S|DLG1_uc011bue.1_Missense_Mutation_p.L12S|DLG1_uc010ial.2_Missense_Mutation_p.L12S|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.L12S|uc003fxq.2_5'Flank	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	12	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197428660	197428660	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197428660T>C	uc003fyc.2	-	6	829	c.646A>G	c.(646-648)ACC>GCC	p.T216A	KIAA0226_uc003fyd.3_Missense_Mutation_p.T156A|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.T49A|KIAA0226_uc003fyg.2_Missense_Mutation_p.T209A	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	216	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)														---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197665523	197665523	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197665523G>A	uc003fyo.2	-	4	557	c.411C>T	c.(409-411)GGC>GGT	p.G137G	IQCG_uc003fyn.2_Silent_p.G39G|IQCG_uc003fyp.2_Silent_p.G137G|IQCG_uc003fyq.3_Silent_p.G137G	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	137											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197707271	197707271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197707271T>G	uc011buo.1	+	6	646	c.624T>G	c.(622-624)GAT>GAG	p.D208E	LMLN_uc003fyt.2_Missense_Mutation_p.D156E|LMLN_uc010iar.2_Missense_Mutation_p.D208E|LMLN_uc010ias.2_Missense_Mutation_p.D156E|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	208					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)														---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	437167	437167	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:437167G>A	uc003gag.2	-	3	1780	c.1089C>T	c.(1087-1089)TGC>TGT	p.C363C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.C395C|ZNF721_uc010ibe.2_Silent_p.C351C	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	363						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	731294	731294	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:731294A>G	uc011bva.1	+	7	721	c.246A>G	c.(244-246)GTA>GTG	p.V82V	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.V82V|PCGF3_uc010ibh.2_Silent_p.V82V|PCGF3_uc003gbg.1_Silent_p.V48V|PCGF3_uc003gbh.2_Silent_p.V48V	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	755208	755208	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:755208A>G	uc011bva.1	+						PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron|PCGF3_uc003gbg.1_Intron|PCGF3_uc003gbh.2_Intron	NM_006315	NP_006306			ring finger protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	944311	944311	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:944311G>T	uc003gbq.2	+						TMEM175_uc010ibl.1_Intron|TMEM175_uc003gbp.1_Intron|TMEM175_uc003gbr.2_Intron|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Intron|TMEM175_uc003gbt.2_Intron|TMEM175_uc003gbv.2_Intron|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702			transmembrane protein 175							integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	949616	949616	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:949616C>T	uc003gbq.2	+	10	878	c.780C>T	c.(778-780)CGC>CGT	p.R260R	TMEM175_uc010ibl.1_Silent_p.R260R|TMEM175_uc003gbp.1_Silent_p.R178R|TMEM175_uc003gbr.2_Silent_p.R178R|TMEM175_uc003gbu.2_Silent_p.R178R|TMEM175_uc003gbs.2_Silent_p.R143R|TMEM175_uc003gbt.2_Silent_p.R143R|TMEM175_uc003gbv.2_Silent_p.R143R|TMEM175_uc010ibm.2_Silent_p.R76R	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	260						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	954521	954521	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:954521C>T	uc003gbw.2	-						DGKQ_uc010ibn.2_Intron	NM_001347	NP_001338			diacylglycerol kinase, theta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
SLC26A1	10861	broad.mit.edu	37	4	985234	985234	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:985234C>A	uc003gcb.2	-	3	636	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC26A1_uc003gbx.2_Missense_Mutation_p.Q86H|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.Q86H	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	86	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996113	996113	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996113C>T	uc003gby.2	+	8	1117	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y365Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	343					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996128	996128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996128C>T	uc003gby.2	+	8	1132	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N370N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	348					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
RNF212	285498	broad.mit.edu	37	4	1067437	1067437	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1067437G>A	uc003gcj.2	-	9	854	c.524C>T	c.(523-525)GCC>GTC	p.A175V	RNF212_uc003gch.2_Missense_Mutation_p.A17V|RNF212_uc003gci.2_Missense_Mutation_p.A175V|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	175							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)												OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1347004	1347004	+	Missense_Mutation	SNP	G	A	A	rs76217876	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1347004G>A	uc003gde.3	+	5	1184	c.737G>A	c.(736-738)CGG>CAG	p.R246Q		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	246											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1377542	1377542	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1377542T>C	uc003gde.3	+						KIAA1530_uc010ibv.2_Intron	NM_020894	NP_065945			hypothetical protein LOC57654												0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388698	1388698	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388698G>A	uc003gdf.2	+	1	3359	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388760	1388760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388760G>A	uc003gdf.2	+	1	3421	c.461G>A	c.(460-462)CGG>CAG	p.R154Q		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	154					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389092	1389092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1389092C>T	uc003gdf.2	+	1	3753	c.793C>T	c.(793-795)CCC>TCC	p.P265S		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	265	7.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1656774	1656774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656774C>T	uc011bve.1	-	4	1011	c.813G>A	c.(811-813)CGG>CGA	p.R271R	FAM53A_uc010ibw.2_Silent_p.R271R	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	271	Nuclear localization signal (Potential).					nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1902809	1902809	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1902809T>G	uc003gdz.3	+	2	604	c.428T>G	c.(427-429)ATT>AGT	p.I143S	WHSC1_uc003geb.3_Missense_Mutation_p.I143S|WHSC1_uc003gec.3_Missense_Mutation_p.I143S|WHSC1_uc003ged.3_Missense_Mutation_p.I143S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.I143S|WHSC1_uc003gdy.1_Missense_Mutation_p.I143S|WHSC1_uc010icd.1_Missense_Mutation_p.I143S|WHSC1_uc003gea.1_Missense_Mutation_p.I143S|WHSC1_uc010ice.1_Missense_Mutation_p.I143S|WHSC1_uc003geg.1_Missense_Mutation_p.I143S|WHSC1_uc003geh.1_Missense_Mutation_p.I143S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	143					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273447	2273447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2273447A>G	uc003gex.1	-	11	2702	c.2383T>C	c.(2383-2385)TCA>CCA	p.S795P	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S725P|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S765P|ZFYVE28_uc003gew.1_Missense_Mutation_p.S681P	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	795					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3																		---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2834759	2834759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2834759T>C	uc003gfi.3	+	12	1651	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SH3BP2_uc011bvp.1_Missense_Mutation_p.Y539H|SH3BP2_uc003gfj.3_Missense_Mutation_p.Y568H|SH3BP2_uc003gfk.3_Missense_Mutation_p.Y511H|SH3BP2_uc003gfl.3_Missense_Mutation_p.Y444H|SH3BP2_uc003gfm.3_Missense_Mutation_p.Y486H	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	511	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---
ADD1	118	broad.mit.edu	37	4	2886334	2886334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2886334G>A	uc003gfr.2	+	4	639	c.451G>A	c.(451-453)GCG>ACG	p.A151T	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.A151T|ADD1_uc003gfo.2_Missense_Mutation_p.A151T|ADD1_uc003gfp.2_Missense_Mutation_p.A151T|ADD1_uc003gfq.2_Missense_Mutation_p.A151T|ADD1_uc003gfs.2_Missense_Mutation_p.A151T|ADD1_uc003gft.3_Missense_Mutation_p.A151T|ADD1_uc003gfu.2_5'Flank	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	151					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3037113	3037113	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3037113T>C	uc003ggn.1	+	13	1725	c.1270T>C	c.(1270-1272)TTA>CTA	p.L424L	GRK4_uc003ggo.1_Silent_p.L424L|GRK4_uc003ggp.1_Silent_p.L392L|GRK4_uc003ggq.1_Silent_p.L392L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	424	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
HTT	3064	broad.mit.edu	37	4	3148604	3148604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3148604C>T	uc011bvq.1	+	26	3375	c.3230C>T	c.(3229-3231)TCG>TTG	p.S1077L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1075					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318001	3318001	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318001C>T	uc003ggw.2	+	2	1008	c.104C>T	c.(103-105)ACG>ATG	p.T35M	RGS12_uc003ggu.2_Missense_Mutation_p.T35M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T35M|RGS12_uc003ggx.1_Missense_Mutation_p.T35M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	35	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318443	3318443	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318443A>G	uc003ggw.2	+	2	1450	c.546A>G	c.(544-546)GGA>GGG	p.G182G	RGS12_uc003ggu.2_Silent_p.G182G|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.G182G|RGS12_uc003ggx.1_Silent_p.G182G	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	182						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
LRPAP1	4043	broad.mit.edu	37	4	3526647	3526647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3526647T>C	uc003ghi.2	-	2	421	c.336A>G	c.(334-336)ATA>ATG	p.I112M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	112					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)														---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3769612	3769612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3769612T>C	uc003ghm.2	+	1	1317	c.1279T>C	c.(1279-1281)TAC>CAC	p.Y427H	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	427	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624510	5624510	+	Missense_Mutation	SNP	C	T	T	rs139717271		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5624510C>T	uc003gij.2	-	14	2309	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	EVC2_uc011bwb.1_Missense_Mutation_p.R192Q|EVC2_uc003gik.2_Missense_Mutation_p.R672Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	752	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
EVC	2121	broad.mit.edu	37	4	5754593	5754593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5754593C>T	uc003gil.1	+	9	1313	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	377					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6064122	6064122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6064122G>A	uc003giu.3	-	10	1753	c.1477C>T	c.(1477-1479)CGG>TGG	p.R493W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R493W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R308W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R493W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R328W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R493W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R493W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	493	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6083425	6083425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6083425G>A	uc003giu.3	-	6	1288	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R338W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R173W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R338W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R173W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R338W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R338W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	338	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303480	6303480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303480G>A	uc003giy.2	+	8	2124	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H	WFS1_uc003gix.2_Missense_Mutation_p.R653H|WFS1_uc003giz.2_Missense_Mutation_p.R471H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	653			R -> C (in a patient with type 2 diabetes).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303751	6303751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303751C>T	uc003giy.2	+	8	2395	c.2229C>T	c.(2227-2229)AGC>AGT	p.S743S	WFS1_uc003gix.2_Silent_p.S743S|WFS1_uc003giz.2_Silent_p.S561S	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	743					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6380273	6380273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6380273G>A	uc003gjc.2	-	3	565	c.195C>T	c.(193-195)GGC>GGT	p.G65G	PPP2R2C_uc003gjb.2_Silent_p.G48G|PPP2R2C_uc011bwd.1_Silent_p.G58G|PPP2R2C_uc011bwe.1_Silent_p.G58G|PPP2R2C_uc003gja.2_Silent_p.G65G|PPP2R2C_uc003gjd.1_Silent_p.G153G	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	65					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6826332	6826332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6826332G>A	uc003gjr.3	+	3	615	c.152G>A	c.(151-153)GGC>GAC	p.G51D	KIAA0232_uc003gjq.3_Missense_Mutation_p.G51D	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	51							ATP binding			ovary(2)	2																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6863906	6863906	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6863906T>C	uc003gjr.3	+	7	2260	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G	KIAA0232_uc003gjq.3_Silent_p.G599G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	599							ATP binding			ovary(2)	2																		---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	7011616	7011616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7011616C>T	uc011bwg.1	+	10	1538	c.1459C>T	c.(1459-1461)CAT>TAT	p.H487Y	TBC1D14_uc003gjs.3_Missense_Mutation_p.H487Y|TBC1D14_uc010idh.2_Missense_Mutation_p.H207Y|TBC1D14_uc011bwh.1_Missense_Mutation_p.H134Y|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056629	7056629	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7056629A>G	uc003gjw.3	+	2	1262	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A	TADA2B_uc010idi.2_Missense_Mutation_p.T296A	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0																		---	---	---	---
GRPEL1	80273	broad.mit.edu	37	4	7064145	7064145	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7064145T>C	uc003gjy.1	-	3	315	c.274A>G	c.(274-276)AGC>GGC	p.S92G	GRPEL1_uc003gjz.1_Missense_Mutation_p.S92G	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	92					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0																		---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7435600	7435600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7435600C>A	uc011bwj.1	-	1	1101	c.1007G>T	c.(1006-1008)TGC>TTC	p.C336F	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	336	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome					0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7788020	7788020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7788020A>G	uc003gkg.1	-	12	1704	c.1431T>C	c.(1429-1431)GTT>GTC	p.V477V	AFAP1_uc011bwk.1_Silent_p.V477V	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	477						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7795484	7795484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7795484G>A	uc003gkg.1	-	11	1609	c.1336C>T	c.(1336-1338)CCG>TCG	p.P446S	AFAP1_uc011bwk.1_Missense_Mutation_p.P446S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	446						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7840356	7840356	+	Silent	SNP	C	T	T	rs144556165		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7840356C>T	uc003gkg.1	-	6	894	c.621G>A	c.(619-621)CCG>CCA	p.P207P	AFAP1_uc011bwk.1_Silent_p.P207P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	207	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229166	8229166	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229166A>T	uc003gkv.3	+	12	1846	c.1745A>T	c.(1744-1746)TAC>TTC	p.Y582F	SH3TC1_uc003gkw.3_Missense_Mutation_p.Y506F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	582	TPR 1.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229515	8229515	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229515G>A	uc003gkv.3	+	12	2195	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	SH3TC1_uc003gkw.3_Silent_p.S622S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	698	TPR 3.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8233870	8233870	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8233870C>A	uc003gkv.3	+	13	3219	c.3118C>A	c.(3118-3120)CTG>ATG	p.L1040M	SH3TC1_uc003gkw.3_Missense_Mutation_p.L964M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1040	TPR 7.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8307843	8307843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8307843G>A	uc003gla.2	+	9	1546	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	448					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447359	10447359	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10447359A>G	uc003gmn.2	-	3	1081	c.594T>C	c.(592-594)GGT>GGC	p.G198G		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	198	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13590398	13590398	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13590398T>C	uc003gmz.1	-	15	8345	c.8228A>G	c.(8227-8229)AAA>AGA	p.K2743R		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2743							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13603610	13603610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13603610G>A	uc003gmz.1	-	10	5031	c.4914C>T	c.(4912-4914)ATC>ATT	p.I1638I	BOD1L_uc010idr.1_Silent_p.I975I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1638							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15018811	15018811	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15018811G>A	uc003gni.1	+	4	811	c.724_splice	c.e4-1	p.D242_splice	CPEB2_uc003gnj.1_Splice_Site_p.D212_splice|CPEB2_uc003gnk.1_Splice_Site_p.D242_splice|CPEB2_uc003gnl.1_Splice_Site_p.D215_splice|CPEB2_uc003gnm.1_Splice_Site_p.D212_splice|CPEB2_uc003gnn.1_Splice_Site_p.D215_splice	NM_182485	NP_872291			cytoplasmic polyadenylation element binding						regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1																		---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15614035	15614035	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15614035A>C	uc003goc.1	-	10	1956	c.1853T>G	c.(1852-1854)GTT>GGT	p.V618G	FBXL5_uc010idw.1_Missense_Mutation_p.V531G|FBXL5_uc003gob.1_Missense_Mutation_p.V492G|FBXL5_uc010idx.1_Missense_Mutation_p.V617G|FBXL5_uc003god.1_Missense_Mutation_p.V601G|FBXL5_uc010idy.1_Missense_Mutation_p.V618G	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	618	LRR 6.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0																		---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15964674C>A	uc003gon.2	-	1	186	c.79G>T	c.(79-81)GGA>TGA	p.G27*		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	27						extracellular space	growth factor binding				0																		---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15994012	15994012	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15994012A>G	uc003goo.2	-	16	1982	c.1770T>C	c.(1768-1770)CAT>CAC	p.H590H	PROM1_uc003gor.2_Silent_p.H590H|PROM1_uc003gos.2_Silent_p.H581H|PROM1_uc003got.2_Silent_p.H590H|PROM1_uc003gou.2_Silent_p.H581H|PROM1_uc003gop.2_Silent_p.H581H|PROM1_uc003goq.3_Silent_p.H581H	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	590	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7																		---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16188435	16188435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16188435T>C	uc010ied.1	-	6	896	c.815A>G	c.(814-816)AAG>AGG	p.K272R	TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.K161R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	272						integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504260	16504260	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504260A>T	uc003goz.2	-	8					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_3'UTR|LDB2_uc011bxh.1_3'UTR|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_3'UTR|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	T	T	rs138614817		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504355C>T	uc003goz.2	-	8	1349	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.A343T|LDB2_uc011bxh.1_Missense_Mutation_p.A317T|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.A220T|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	345							LIM domain binding|transcription cofactor activity				0																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805232	17805232	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805232C>T	uc003gpn.2	-	3	1594	c.533G>A	c.(532-534)TGC>TAC	p.C178Y	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	178						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805389	17805389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805389T>C	uc003gpn.2	-	3	1437	c.376A>G	c.(376-378)AAG>GAG	p.K126E	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	126						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20469366	20469366	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20469366T>C	uc003gpr.1	+						SLIT2_uc003gps.1_Intron	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20521008	20521008	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20521008C>T	uc003gpr.1	+	12	1266	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	SLIT2_uc003gps.1_Silent_p.V354V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	354	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525792G>A	uc003gpr.1	+	14	1634	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	SLIT2_uc003gps.1_Missense_Mutation_p.R477H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20597443C>T	uc003gpr.1	+	31	3510	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711339	20711339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20711339G>A	uc010iek.2	+	5	700	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.Q151Q|PACRGL_uc003gpz.2_Silent_p.Q103Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.Q103Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	103							binding				0																		---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20734355	20734355	+	Nonsense_Mutation	SNP	A	T	T	rs141959590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20734355A>T	uc003gqe.2	-	6	624	c.540T>A	c.(538-540)TAT>TAA	p.Y180*	KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y176*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y135*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y172*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y135*|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y177*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y160*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	197						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884223	20884223	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884223A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Intron|KCNIP4_uc003gqd.3_Intron	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884319	20884319	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884319A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Silent_p.A5A|KCNIP4_uc003gqd.3_5'UTR	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22463404	22463404	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22463404A>G	uc003gqm.1	-	3	622	c.357T>C	c.(355-357)AGT>AGC	p.S119S	GPR125_uc003gqo.2_Silent_p.S119S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	119	Extracellular (Potential).|LRR 2.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22737695	22737695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22737695T>C	uc003gqp.3	+	2	241	c.150T>C	c.(148-150)GAT>GAC	p.D50D	GBA3_uc010iep.2_Silent_p.D50D|GBA3_uc011bxo.1_Silent_p.D51D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	50					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
MIR573	693158	broad.mit.edu	37	4	24521905	24521905	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24521905A>G	hsa-mir-573|MI0003580	-			c.9A>G																				0																		---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24550530C>T	uc003gqx.2	-	6	1364	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24556472	24556472	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24556472A>G	uc003gqx.2	-	5	1124	c.956T>C	c.(955-957)GTT>GCT	p.V319A		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	319					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25146678	25146678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25146678T>C	uc003grg.2	-	7	1095	c.882A>G	c.(880-882)ATA>ATG	p.I294M	SEPSECS_uc003gri.2_Missense_Mutation_p.I293M|SEPSECS_uc003grh.2_Missense_Mutation_p.I215M	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	294					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27010471	27010471	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27010471G>A	uc003gsh.3	+	11	1837	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	STIM2_uc003gsg.3_Missense_Mutation_p.A533T|STIM2_uc010iex.2_Missense_Mutation_p.A533T|STIM2_uc010iey.2_Missense_Mutation_p.A157T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	446	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725086	30725086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30725086A>G	uc003gsk.1	+	1	3050	c.2042A>G	c.(2041-2043)AAC>AGC	p.N681S	PCDH7_uc011bxw.1_Missense_Mutation_p.N634S|PCDH7_uc011bxx.1_Missense_Mutation_p.N681S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	681	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36109300	36109300	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36109300T>C	uc003gsq.1	-	27	4510	c.4172A>G	c.(4171-4173)TAC>TGC	p.Y1391C		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1391	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36149198	36149198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36149198T>A	uc003gsq.1	-	18	3509	c.3171A>T	c.(3169-3171)AGA>AGT	p.R1057S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1057	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36161111	36161111	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36161111A>G	uc003gsq.1	-	14	2797	c.2459T>C	c.(2458-2460)GTA>GCA	p.V820A		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	820					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38138948	38138948	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38138948G>T	uc003gtb.2	+	20	3842	c.3499G>T	c.(3499-3501)GGC>TGC	p.G1167C	TBC1D1_uc011byd.1_Missense_Mutation_p.G1158C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G954C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G179C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1167						nucleus	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38776589	38776589	+	Missense_Mutation	SNP	C	T	T	rs147715812		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38776589C>T	uc003gti.2	-	2	1002	c.623G>A	c.(622-624)CGT>CAT	p.R208H	TLR10_uc003gtj.2_Missense_Mutation_p.R208H|TLR10_uc003gtk.2_Missense_Mutation_p.R208H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	208	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798650	38798650	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38798650G>A	uc003gtl.2	-	4	2077	c.1803C>T	c.(1801-1803)TGC>TGT	p.C601C		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	601	Helical; (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798749	38798749	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38798749C>A	uc003gtl.2	-	4	1978	c.1704G>T	c.(1702-1704)AAG>AAT	p.K568N		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	568	Extracellular (Potential).|LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39064525	39064525	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39064525G>A	uc003gts.2	+	1	466	c.391G>A	c.(391-393)GCA>ACA	p.A131T	KLHL5_uc003gtp.2_Missense_Mutation_p.A85T|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Missense_Mutation_p.A131T|KLHL5_uc003gtt.2_Missense_Mutation_p.A131T	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	131						cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39083781	39083781	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39083781T>C	uc003gts.2	+	4	1113	c.1038_splice	c.e4+2	p.M346_splice	KLHL5_uc003gtp.2_Splice_Site_p.M300_splice|KLHL5_uc003gtq.2_Splice_Site_p.M159_splice|KLHL5_uc003gtr.1_Splice_Site_p.M346_splice|KLHL5_uc003gtt.2_Splice_Site_p.M285_splice	NM_015990	NP_057074			kelch-like 5 isoform 1							cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39297264	39297264	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39297264A>G	uc003gty.1	-	22	3061	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A	RFC1_uc003gtx.1_Missense_Mutation_p.V975A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	976					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39843614	39843614	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39843614A>C	uc003guv.3	-	31	4151	c.3611T>G	c.(3610-3612)ATT>AGT	p.I1204S	PDS5A_uc010ifo.2_Missense_Mutation_p.I1164S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1204					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39863914	39863914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39863914T>C	uc003guv.3	-	26	3551	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y964C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1004					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123127	40123127	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123127A>T	uc003guy.3	+	9	3734	c.3396A>T	c.(3394-3396)TTA>TTT	p.L1132F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1052F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1052F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1132						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---
NSUN7	79730	broad.mit.edu	37	4	40776855	40776855	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40776855A>T	uc003gvj.3	+	6	1208	c.713A>T	c.(712-714)GAT>GTT	p.D238V	NSUN7_uc003gvh.2_Missense_Mutation_p.D238V|NSUN7_uc003gvi.3_Missense_Mutation_p.D238V	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0																		---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016219	41016219	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41016219T>C	uc003gvl.2	-	6	846	c.216A>G	c.(214-216)CTA>CTG	p.L72L	APBB2_uc003gvm.2_Silent_p.L72L|APBB2_uc003gvn.2_Silent_p.L72L|APBB2_uc011byt.1_Silent_p.L55L	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	72					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951356	41951356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951356A>G	uc003gwi.2	+	6	933	c.568A>G	c.(568-570)AGA>GGA	p.R190G	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	190						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951372	41951372	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951372G>A	uc003gwi.2	+	6	949	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	195						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42065102	42065102	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42065102A>T	uc003gwl.2	+	11	1142	c.996A>T	c.(994-996)GGA>GGT	p.G332G	SLC30A9_uc011byx.1_Silent_p.G92G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	332	Helical; (Potential).				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42069122	42069122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42069122A>G	uc003gwl.2	+	14	1311	c.1165A>G	c.(1165-1167)AGT>GGT	p.S389G	SLC30A9_uc011byx.1_Missense_Mutation_p.S149G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	389					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42416673	42416673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42416673C>T	uc003gwr.2	-	36	3600	c.3368G>A	c.(3367-3369)CGC>CAC	p.R1123H	ATP8A1_uc003gwq.2_Missense_Mutation_p.R349H|ATP8A1_uc003gws.2_Missense_Mutation_p.R1108H	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1123	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42467001	42467001	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42467001A>T	uc003gwr.2	-	26	2649	c.2417T>A	c.(2416-2418)GTC>GAC	p.V806D	ATP8A1_uc003gwq.2_Missense_Mutation_p.V32D|ATP8A1_uc003gws.2_Missense_Mutation_p.V791D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	806	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42588453	42588453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42588453A>G	uc003gwr.2	-	9	867	c.635T>C	c.(634-636)TTG>TCG	p.L212S	ATP8A1_uc003gws.2_Missense_Mutation_p.L212S|ATP8A1_uc011byz.1_Missense_Mutation_p.L212S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	212	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42895339G>A	uc003gwt.2	+	1	56	c.56G>A	c.(55-57)CGG>CAG	p.R19Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42964999	42964999	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42964999G>A	uc003gwt.2	+	2	475	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	159	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450344	44450344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44450344G>A	uc003gwu.2	-	1	481	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	66	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3															HNSCC(17;0.042)			---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44692771	44692771	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44692771C>G	uc003gww.3	+	12	1580	c.1373C>G	c.(1372-1374)GCA>GGA	p.A458G		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	458					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252449	46252449	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46252449A>G	uc003gxc.3	-	9	1905	c.1232T>C	c.(1231-1233)TTC>TCC	p.F411S	GABRA2_uc010igc.2_Missense_Mutation_p.F411S|GABRA2_uc011bzc.1_Missense_Mutation_p.F416S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	411	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305564	46305564	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46305564T>G	uc003gxc.3	-	7	1442	c.769A>C	c.(769-771)ACC>CCC	p.T257P	GABRA2_uc010igc.2_Missense_Mutation_p.T257P|GABRA2_uc011bzc.1_Missense_Mutation_p.T202P|GABRA2_uc003gxe.2_Missense_Mutation_p.T257P	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	257	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46334631	46334631	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46334631C>T	uc003gxc.3	-	3	928	c.255_splice	c.e3+1	p.M85_splice	GABRA2_uc010igc.2_Splice_Site_p.M85_splice|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Splice_Site_p.M85_splice	NM_001114175	NP_001107647			gamma-aminobutyric acid A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930536	46930536	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46995427C>A	uc003gxg.2	-	1	154	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	5					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47405734	47405734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47405734A>G	uc003gxh.2	+						GABRB1_uc011bze.1_Intron	NM_000812	NP_000803			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47571042	47571042	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47571042G>T	uc003gxk.1	+	16	3206	c.3042G>T	c.(3040-3042)AAG>AAT	p.K1014N	ATP10D_uc003gxl.1_Missense_Mutation_p.K262N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1014	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47663845	47663845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47663845A>G	uc003gxm.2	-	12	1711	c.1618T>C	c.(1618-1620)TGT>CGT	p.C540R	CORIN_uc011bzf.1_Missense_Mutation_p.C401R|CORIN_uc011bzg.1_Missense_Mutation_p.C473R|CORIN_uc011bzh.1_Missense_Mutation_p.C503R|CORIN_uc011bzi.1_Missense_Mutation_p.C503R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	540	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695094	47695094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695094C>T	uc003gxm.2	-	6	899	c.806G>A	c.(805-807)TGT>TAT	p.C269Y	CORIN_uc011bzf.1_Missense_Mutation_p.C130Y|CORIN_uc011bzg.1_Missense_Mutation_p.C202Y|CORIN_uc011bzh.1_Missense_Mutation_p.C269Y|CORIN_uc011bzi.1_Missense_Mutation_p.C269Y|CORIN_uc003gxn.3_Missense_Mutation_p.C269Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	269	Extracellular (Potential).|LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939081	47939081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939081A>G	uc003gxt.3	-	11	1696	c.1430T>C	c.(1429-1431)GTA>GCA	p.V477A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V546A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	477	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939244	47939244	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939244A>G	uc003gxt.3	-	11	1533	c.1267T>C	c.(1267-1269)TTT>CTT	p.F423L	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F492L	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	423	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939482	47939482	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939482G>A	uc003gxt.3	-	11	1295	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.G412G	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	343	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
TEC	7006	broad.mit.edu	37	4	48147163	48147163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48147163C>T	uc003gxz.2	-	14	1494	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	468	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48542963	48542963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48542963T>C	uc003gyh.1	-	46	6307	c.5702A>G	c.(5701-5703)GAT>GGT	p.D1901G	FRYL_uc003gyg.1_Missense_Mutation_p.D597G|FRYL_uc003gyi.1_Missense_Mutation_p.D789G|FRYL_uc003gyj.1_Missense_Mutation_p.D196G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1901					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48566115	48566115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48566115T>C	uc003gyh.1	-	31	4051	c.3446A>G	c.(3445-3447)CAC>CGC	p.H1149R	FRYL_uc003gyk.2_Missense_Mutation_p.H1149R|FRYL_uc003gyi.1_Missense_Mutation_p.H38R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48584736	48584736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48584736C>T	uc003gyh.1	-	20	2369	c.1764G>A	c.(1762-1764)ATG>ATA	p.M588I	FRYL_uc003gyk.2_Missense_Mutation_p.M588I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
OCIAD1	54940	broad.mit.edu	37	4	48859353	48859353	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48859353C>A	uc003gyo.2	+	8	928	c.671C>A	c.(670-672)CCT>CAT	p.P224H	OCIAD1_uc003gyr.2_Missense_Mutation_p.P224H|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.P229H	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	224						endosome	protein binding				0																		---	---	---	---
DCUN1D4	23142	broad.mit.edu	37	4	52758003	52758003	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52758003A>G	uc003gze.2	+	7	625	c.492A>G	c.(490-492)GGA>GGG	p.G164G	DCUN1D4_uc003gzf.2_Silent_p.G164G|DCUN1D4_uc011bzn.1_Silent_p.G104G|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.G208G	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	164	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)															---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861789	52861789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52861789C>A	uc003gzi.2	-	4	1412	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	467						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52945916	52945916	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52945916A>C	uc003gzl.2	+	9	1464	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.I364L|SPATA18_uc003gzk.1_Missense_Mutation_p.I396L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	396					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	54231548	54231548	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54231548A>G	uc003gzu.2	-	1	695	c.561T>C	c.(559-561)CTT>CTC	p.L187L	SCFD2_uc010igm.2_Silent_p.L187L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	187					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54440034	54440034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54440034G>A	uc003hag.3	-	2	392	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	46	RING-type.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
KIT	3815	broad.mit.edu	37	4	55524239	55524239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55524239G>A	uc010igr.2	+	1	145	c.58G>A	c.(58-60)GTC>ATC	p.V20I	KIT_uc010igs.2_Missense_Mutation_p.V20I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	20					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55565802	55565802	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55565802A>T	uc010igr.2	+	4	713	c.626A>T	c.(625-627)AAA>ATA	p.K209I	KIT_uc010igs.2_Missense_Mutation_p.K209I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	209	Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55592157	55592157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55592157A>G	uc010igr.2	+	9	1568	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	KIT_uc010igs.2_Missense_Mutation_p.Y494C|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	494	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.Y494Y(1)|p.E490_F504>DHIVVSLTF(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KDR	3791	broad.mit.edu	37	4	55964961	55964961	+	Missense_Mutation	SNP	T	A	A	rs151060903		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55964961T>A	uc003has.2	-	16	2578	c.2276A>T	c.(2275-2277)GAA>GTA	p.E759V	KDR_uc003hat.1_Missense_Mutation_p.E759V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	759	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972863	55972863	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55972863T>C	uc003has.2	-	11	1829	c.1527A>G	c.(1525-1527)GGA>GGG	p.G509G	KDR_uc003hat.1_Silent_p.G509G|KDR_uc011bzx.1_Silent_p.G509G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	509	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56730485	56730485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56730485G>A	uc003hbe.1	+	4	506	c.348G>A	c.(346-348)TGG>TGA	p.W116*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.W116*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.W116*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	116					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57269249	57269249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57269249T>C	uc003hbr.2	-	5	820	c.618A>G	c.(616-618)TTA>TTG	p.L206L		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	206	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57384867	57384867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57384867T>A	uc003hby.1	+	3	488	c.40T>A	c.(40-42)TCC>ACC	p.S14T		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	78							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57389893	57389893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57389893A>T	uc003hby.1	+	4	671	c.223A>T	c.(223-225)ATC>TTC	p.I75F		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	139							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57897134	57897134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57897134C>T	uc003hcl.1	+	25	3548	c.3505C>T	c.(3505-3507)CCG>TCG	p.P1169S	POLR2B_uc011cae.1_Missense_Mutation_p.P1162S|POLR2B_uc011caf.1_Missense_Mutation_p.P1094S|POLR2B_uc003hcm.1_Missense_Mutation_p.P662S	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62813808	62813808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62813808T>C	uc010ihh.2	+						LPHN3_uc003hcq.3_Intron|LPHN3_uc003hct.2_Intron	NM_015236	NP_056051			latrophilin 3 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66535289	66535289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66535289T>G	uc003hcy.2	-	1	365	c.172A>C	c.(172-174)AGC>CGC	p.S58R	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.S58R|EPHA5_uc011cah.1_Missense_Mutation_p.S58R|EPHA5_uc011cai.1_Missense_Mutation_p.S58R|EPHA5_uc003hda.2_Missense_Mutation_p.S58R|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	58	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489832	68489832	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489832T>C	uc003hdg.3	-							NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489854	68489854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489854T>C	uc003hdg.3	-	30	2882	c.2830A>G	c.(2830-2832)ACT>GCT	p.T944A		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	944					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68490772	68490772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68490772C>A	uc003hdg.3	-	29	2704	c.2652G>T	c.(2650-2652)AAG>AAT	p.K884N		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	884					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610386	68610386	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610386G>T	uc003hdn.2	-	2	2393	c.642C>A	c.(640-642)TTC>TTA	p.F214L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	214	Helical; Name=5; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610404	68610404	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610404T>G	uc003hdn.2	-	2	2375	c.624A>C	c.(622-624)CAA>CAC	p.Q208H	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	208	Extracellular (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68619626	68619626	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68619626A>T	uc003hdn.2	-	1	2179	c.428T>A	c.(427-429)ATC>AAC	p.I143N	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.I143N	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	143	Cytoplasmic (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68928328	68928328	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68928328A>G	uc003hdt.1	-						LOC550112_uc003hdl.3_RNA|uc011cak.1_RNA|SYT14L_uc010ihn.2_RNA	NM_207407	NP_997290			transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202890	69202890	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69202890T>C	uc003hdx.2	-	4	1091	c.738A>G	c.(736-738)GAA>GAG	p.E246E	YTHDC1_uc003hdy.2_Silent_p.E246E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	246	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69203419	69203419	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69203419A>G	uc003hdx.2	-	3	683	c.330T>C	c.(328-330)GAT>GAC	p.D110D	YTHDC1_uc003hdy.2_Silent_p.D110D	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	110										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811057	69811057	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69811057T>G	uc003hef.2	-	2	862	c.831A>C	c.(829-831)GGA>GGC	p.G277G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	277	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066414	70066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70066414A>G	uc003heh.2	-	6	1343	c.1334T>C	c.(1333-1335)TTA>TCA	p.L445S	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	445					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3																		---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70592890	70592890	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70592890G>T	uc003hen.2	-	8	1105	c.807C>A	c.(805-807)TTC>TTA	p.F269L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	269					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0																		---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71200957	71200957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71200957A>G	uc003hff.2	+	1	287	c.201A>G	c.(199-201)AAA>AAG	p.K67K		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	67						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71201519	71201519	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71201519G>A	uc003hff.2	+	1	849	c.763G>A	c.(763-765)GCT>ACT	p.A255T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	255						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508727	71508727	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71508727A>G	uc011caw.1	+	9	1865	c.1584A>G	c.(1582-1584)CCA>CCG	p.P528P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555419	71555419	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71555419A>G	uc003hfo.2	+	1	1224	c.1025A>G	c.(1024-1026)AAA>AGA	p.K342R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	342					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)															---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71634299	71634299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71634299C>T	uc003hfq.2	+	5	1212	c.617C>T	c.(616-618)GCC>GTC	p.A206V	RUFY3_uc003hfp.3_Missense_Mutation_p.A266V|RUFY3_uc011cax.1_Missense_Mutation_p.A224V|RUFY3_uc003hfr.2_Missense_Mutation_p.A206V|RUFY3_uc011cay.1_Missense_Mutation_p.A142V	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	206	RUN.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72363287	72363287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72363287G>A	uc003hfy.2	+	16	2161	c.2044G>A	c.(2044-2046)GTC>ATC	p.V682I	SLC4A4_uc010iic.2_Missense_Mutation_p.V682I|SLC4A4_uc010iib.2_Missense_Mutation_p.V682I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V682I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V638I|SLC4A4_uc010iid.2_Intron	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	682	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72429508	72429508	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72429508A>G	uc003hfy.2	+	24	3217	c.3100_splice	c.e24-2	p.S1034_splice	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Splice_Site_p.S950_splice|SLC4A4_uc003hfz.2_Splice_Site_p.S1034_splice|SLC4A4_uc003hgc.3_Splice_Site_p.S990_splice|SLC4A4_uc010iid.2_Splice_Site_p.S238_splice	NM_001098484	NP_001091954			solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	72994607	72994607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72994607C>A	uc003hgg.2	+	2	703	c.605C>A	c.(604-606)CCT>CAT	p.P202H	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.P103H|NPFFR2_uc003hgh.2_Missense_Mutation_p.P100H	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	202	Helical; Name=2; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73943171	73943171	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73943171T>C	uc003hgp.2	-	32	7605	c.7488A>G	c.(7486-7488)CAA>CAG	p.Q2496Q	ANKRD17_uc003hgo.2_Silent_p.Q2383Q|ANKRD17_uc003hgq.2_Silent_p.Q2245Q|ANKRD17_uc003hgr.2_Silent_p.Q2495Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2496					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73956669	73956669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73956669T>A	uc003hgp.2	-	29	6793	c.6676A>T	c.(6676-6678)ACA>TCA	p.T2226S	ANKRD17_uc003hgo.2_Missense_Mutation_p.T2113S|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1975S|ANKRD17_uc003hgr.2_Missense_Mutation_p.T2225S	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2226					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957601	73957601	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957601C>T	uc003hgp.2	-	29	5861	c.5744G>A	c.(5743-5745)GGT>GAT	p.G1915D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G1802D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1664D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1914D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1915					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957799	73957799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957799G>A	uc003hgp.2	-	29	5663	c.5546C>T	c.(5545-5547)GCC>GTC	p.A1849V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1736V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1598V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1848V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1849					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005463	74005463	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005463G>A	uc003hgp.2	-	15	2987	c.2870C>T	c.(2869-2871)GCG>GTG	p.A957V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A844V|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A957V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A522V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	957	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005740	74005740	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005740T>A	uc003hgp.2	-	15	2710	c.2593A>T	c.(2593-2595)ATT>TTT	p.I865F	ANKRD17_uc003hgo.2_Missense_Mutation_p.I752F|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.I865F|ANKRD17_uc011cbd.1_Missense_Mutation_p.I430F	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	865	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74007530	74007530	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74007530T>C	uc003hgp.2	-	14	2377	c.2260A>G	c.(2260-2262)ATG>GTG	p.M754V	ANKRD17_uc003hgo.2_Missense_Mutation_p.M641V|ANKRD17_uc003hgq.2_Missense_Mutation_p.M754V|ANKRD17_uc003hgr.2_Missense_Mutation_p.M754V|ANKRD17_uc011cbd.1_Missense_Mutation_p.M319V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	754					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ALB	213	broad.mit.edu	37	4	74275073	74275073	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74275073T>A	uc003hgs.3	+	5	557	c.484T>A	c.(484-486)TAC>AAC	p.Y162N	ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.Y162N|ALB_uc010iii.2_Missense_Mutation_p.Y47N|ALB_uc003hgu.3_Missense_Mutation_p.Y12N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.Y52N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	162	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
AFM	173	broad.mit.edu	37	4	74357801	74357801	+	Silent	SNP	G	A	A	rs141061547		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74357801G>A	uc003hhb.2	+	8	1087	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	352	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
THAP6	152815	broad.mit.edu	37	4	76452318	76452318	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76452318G>T	uc003him.2	+	5	660	c.563G>T	c.(562-564)AGG>ATG	p.R188M	THAP6_uc003hin.2_Missense_Mutation_p.R146M|THAP6_uc011cbm.1_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.2_Missense_Mutation_p.R188M	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	188	Potential.					microtubule cytoskeleton	DNA binding|metal ion binding				0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76582913	76582913	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76582913T>A	uc003hir.2	-	4	344	c.179A>T	c.(178-180)GAT>GTT	p.D60V	G3BP2_uc003his.2_Missense_Mutation_p.D60V|G3BP2_uc003hit.2_Missense_Mutation_p.D60V	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	60	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76731585	76731585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76731585G>A	uc003hiu.2	+	21	2651	c.2476G>A	c.(2476-2478)GCA>ACA	p.A826T	USO1_uc003hiv.2_Missense_Mutation_p.A668T|USO1_uc003hiw.2_Missense_Mutation_p.A661T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	826	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76734383	76734383	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76734383T>A	uc003hiu.2	+	23	2999	c.2824T>A	c.(2824-2826)TCT>ACT	p.S942T	USO1_uc003hiv.2_Missense_Mutation_p.S784T|USO1_uc003hiw.2_Missense_Mutation_p.S777T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	942	Asp/Glu-rich (acidic).			S->D: Decreased association with Golgi membranes.|S->A: Loss of phosphorylation. Promotes association with Golgi membranes.	intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76842211	76842211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76842211A>G	uc003hjb.2	-	6	796	c.732T>C	c.(730-732)GCT>GCC	p.A244A	NAAA_uc003hja.2_Silent_p.A244A|NAAA_uc003hjc.3_Silent_p.A244A|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.A143A	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	244					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1																		---	---	---	---
ART3	419	broad.mit.edu	37	4	77003397	77003397	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77003397A>G	uc003hjo.2	+	3	609	c.490A>G	c.(490-492)ACA>GCA	p.T164A	ART3_uc003hji.2_Missense_Mutation_p.T164A|ART3_uc003hjj.2_Missense_Mutation_p.T164A|ART3_uc003hjk.2_Missense_Mutation_p.T164A|ART3_uc010ija.1_Missense_Mutation_p.T164A|ART3_uc003hjn.2_Missense_Mutation_p.T164A|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.T134A|ART3_uc010ijc.2_Missense_Mutation_p.T134A|ART3_uc010ijd.2_Missense_Mutation_p.T134A	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	164					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NUP54	53371	broad.mit.edu	37	4	77057529	77057529	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77057529G>A	uc003hjs.2	-	4	460	c.332C>T	c.(331-333)CCT>CTT	p.P111L	NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Missense_Mutation_p.P63L|NUP54_uc003hjt.2_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	111	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2																		---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677703	77677703	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77677703C>T	uc011cbx.1	+	8	5764	c.4811C>T	c.(4810-4812)TCT>TTT	p.S1604F	SHROOM3_uc003hkg.2_Missense_Mutation_p.S1382F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1604					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---
ANKRD56	345079	broad.mit.edu	37	4	77817430	77817430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77817430G>A	uc003hki.2	-	1	1573	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	525											0																		---	---	---	---
SEPT11	55752	broad.mit.edu	37	4	77926846	77926846	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77926846C>T	uc003hkj.2	+	3	397	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SEPT11_uc010ijh.1_Missense_Mutation_p.R71W|SEPT11_uc011cca.1_Missense_Mutation_p.R89W	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	79					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79258953	79258953	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79258953C>A	uc003hlb.2	+	20	2844	c.2404C>A	c.(2404-2406)CTC>ATC	p.L802I	FRAS1_uc003hkw.2_Missense_Mutation_p.L802I|FRAS1_uc003hkz.2_Missense_Mutation_p.L506I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	802	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79367983	79367983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79367983G>A	uc003hlb.2	+	43	6399	c.5959G>A	c.(5959-5961)GAC>AAC	p.D1987N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1986	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79461776	79461776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79461776C>T	uc003hlb.2	+	74	11977	c.11537C>T	c.(11536-11538)GCT>GTT	p.A3846V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3841	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81188238	81188238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81188238G>A	uc003hmd.2	+	1	497	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	FGF5_uc003hme.2_Missense_Mutation_p.R87Q	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	87					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967100	81967100	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967100C>T	uc003hmg.3	+	2	845	c.525C>T	c.(523-525)AAC>AAT	p.N175N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967414	81967414	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967414C>T	uc003hmg.3	+	2	1159	c.839C>T	c.(838-840)GCC>GTC	p.A280V		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	280					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82096046	82096046	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82096046T>G	uc003hmh.2	-	2	543	c.529A>C	c.(529-531)ATC>CTC	p.I177L	PRKG2_uc011cch.1_Missense_Mutation_p.I177L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	177	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7																		---	---	---	---
ENOPH1	58478	broad.mit.edu	37	4	83378162	83378162	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83378162A>G	uc003hmv.2	+	5	874	c.617A>G	c.(616-618)AAC>AGC	p.N206S	ENOPH1_uc003hmw.2_Missense_Mutation_p.N118S|ENOPH1_uc003hmx.2_Missense_Mutation_p.N60S	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	206					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0																		---	---	---	---
MRPS18C	51023	broad.mit.edu	37	4	84379541	84379541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84379541T>C	uc003hor.3	+	3	306	c.193T>C	c.(193-195)TGT>CGT	p.C65R	HELQ_uc003hom.2_5'Flank|HELQ_uc010ikb.2_5'Flank|HELQ_uc003hol.3_5'Flank|HELQ_uc010ikc.2_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank|MRPS18C_uc011ccu.1_Missense_Mutation_p.C65R	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)																---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414655	85414655	+	Silent	SNP	G	A	A	rs140353706	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85414655G>A	uc003hpa.1	-	3	897	c.891C>T	c.(889-891)GCC>GCT	p.A297A		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	297					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)														---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85552990	85552990	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85552990T>A	uc011ccv.1	+	6	1097	c.599T>A	c.(598-600)CTG>CAG	p.L200Q	CDS1_uc010ike.1_Missense_Mutation_p.L4Q	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	200	Helical; (Potential).				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612938	85612938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612938T>C	uc003hpd.2	-	60	9458	c.9050A>G	c.(9049-9051)GAA>GGA	p.E3017G	WDFY3_uc003hpe.1_Missense_Mutation_p.E628G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3017						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612945	85612945	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612945A>T	uc003hpd.2	-						WDFY3_uc003hpe.1_Intron	NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85657439	85657439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85657439G>A	uc003hpd.2	-	42	7207	c.6799C>T	c.(6799-6801)CCC>TCC	p.P2267S	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2267						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85658471	85658471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85658471A>T	uc003hpd.2	-	41	7031	c.6623T>A	c.(6622-6624)ATA>AAA	p.I2208K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2208						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85687073	85687073	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85687073A>G	uc003hpd.2	-	32	5486	c.5078T>C	c.(5077-5079)GTC>GCC	p.V1693A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1693						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85707196	85707196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85707196G>A	uc003hpd.2	-	24	4406	c.3998C>T	c.(3997-3999)TCT>TTT	p.S1333F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1333						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85771148	85771148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85771148T>C	uc003hpd.2	-	5	619	c.211A>G	c.(211-213)ACA>GCA	p.T71A	WDFY3_uc003hpf.2_Missense_Mutation_p.T71A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	71						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916261	86916261	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916261G>A	uc003hpk.2	+	9	1903	c.1454G>A	c.(1453-1455)GGC>GAC	p.G485D	ARHGAP24_uc003hpl.2_Missense_Mutation_p.G390D|ARHGAP24_uc010ikf.2_Missense_Mutation_p.G400D|ARHGAP24_uc003hpm.2_Missense_Mutation_p.G392D	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	485					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916682	86916682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916682T>C	uc003hpk.2	+	9	2324	c.1875T>C	c.(1873-1875)AGT>AGC	p.S625S	ARHGAP24_uc003hpl.2_Silent_p.S530S|ARHGAP24_uc010ikf.2_Silent_p.S540S|ARHGAP24_uc003hpm.2_Silent_p.S532S	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	625					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86950338	86950338	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86950338G>A	uc003hpq.2	-						MAPK10_uc010ikg.2_Intron|MAPK10_uc003hpr.2_Intron|MAPK10_uc003hps.2_Intron|MAPK10_uc003hpt.2_Intron|MAPK10_uc003hpu.2_Intron|MAPK10_uc003hpv.2_Intron|MAPK10_uc003hpn.2_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Intron|MAPK10_uc003hpp.2_Intron	NM_138982	NP_620448			mitogen-activated protein kinase 10 isoform 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87693926	87693926	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87693926T>C	uc003hpz.2	+						PTPN13_uc003hpy.2_Intron|PTPN13_uc003hqa.2_Intron|PTPN13_uc003hqb.2_Intron|PTPN13_uc003hqc.1_Intron	NM_080683	NP_542414			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87694086	87694086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87694086A>G	uc003hpz.2	+	32	5804	c.5324A>G	c.(5323-5325)GAA>GGA	p.E1775G	PTPN13_uc003hpy.2_Missense_Mutation_p.E1780G|PTPN13_uc003hqa.2_Missense_Mutation_p.E1756G|PTPN13_uc003hqb.2_Missense_Mutation_p.E1584G|PTPN13_uc003hqc.1_Missense_Mutation_p.E141G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1775						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
C4orf36	132989	broad.mit.edu	37	4	87809323	87809323	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87809323C>T	uc003hqe.3	-	3	484	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	57											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)														---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88055677	88055677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88055677A>G	uc003hqj.3	+	19	3749	c.3342A>G	c.(3340-3342)GTA>GTG	p.V1114V	AFF1_uc011ccz.1_Silent_p.V1122V|AFF1_uc003hqk.3_Silent_p.V1115V|AFF1_uc011cda.1_Silent_p.V753V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1114						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88394950	88394950	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88394950T>C	uc010ikm.2	-	12	2544	c.1972A>G	c.(1972-1974)ATA>GTA	p.I658V	SPARCL1_uc011cdc.1_Missense_Mutation_p.I533V|SPARCL1_uc003hqs.3_Missense_Mutation_p.I658V|SPARCL1_uc011cdd.1_Missense_Mutation_p.I533V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	658					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)														---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535299	88535299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88535299T>C	uc003hqu.2	+	5	1605	c.1485T>C	c.(1483-1485)TCT>TCC	p.S495S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	495	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88731774	88731774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88731774G>T	uc003hqx.3	+	6	361	c.263G>T	c.(262-264)GGA>GTA	p.G88V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	88	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732877	88732877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88732877G>A	uc003hqx.3	+	7	867	c.769G>A	c.(769-771)GTT>ATT	p.V257I		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	257					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88964569	88964569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88964569T>C	uc003hre.2	+	5	1345	c.1279T>C	c.(1279-1281)TCA>CCA	p.S427P	PKD2_uc011cdf.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	427	Extracellular (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)														---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89384765	89384765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89384765A>G	uc003hrt.2	+	5	924	c.771A>G	c.(769-771)CTA>CTG	p.L257L		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	257	RCC1 3.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89577147	89577147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89577147T>C	uc003hrw.1	+	9	1196	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	HERC3_uc003hrv.2_Missense_Mutation_p.Y344H|HERC3_uc011cdn.1_Missense_Mutation_p.Y226H|HERC3_uc011cdo.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	344	RCC1 7.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89588651	89588651	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89588651T>C	uc003hrw.1	+						HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421			hect domain and RLD 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89668866	89668866	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89668866C>T	uc003hse.1	-	18	2506	c.2298G>A	c.(2296-2298)AAG>AAA	p.K766K	FAM13A_uc003hsa.1_Silent_p.K237K|FAM13A_uc003hsb.1_Silent_p.K440K|FAM13A_uc003hsd.1_Silent_p.K440K|FAM13A_uc003hsc.1_Silent_p.K426K|FAM13A_uc011cdq.1_Silent_p.K412K|FAM13A_uc003hsf.1_Silent_p.K352K|FAM13A_uc003hsg.1_Silent_p.K237K	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	766					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
TIGD2	166815	broad.mit.edu	37	4	90034768	90034768	+	Missense_Mutation	SNP	G	A	A	rs147964825		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90034768G>A	uc003hsk.2	+	1	801	c.643G>A	c.(643-645)GCA>ACA	p.A215T	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	215	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)														---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94690472	94690472	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94690472C>T	uc011cdt.1	+	15	2730	c.2472C>T	c.(2470-2472)GGC>GGT	p.G824G	GRID2_uc011cdu.1_Silent_p.G729G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)													---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95162126	95162126	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95162126A>T	uc003htc.3	+	6	929	c.674A>T	c.(673-675)GAT>GTT	p.D225V	SMARCAD1_uc003htb.3_Missense_Mutation_p.D225V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D225V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D88V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	225					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95174135	95174135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95174135C>T	uc003htc.3	+	9	1513	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	SMARCAD1_uc003htb.3_Missense_Mutation_p.P420S|SMARCAD1_uc003htd.3_Missense_Mutation_p.P420S|SMARCAD1_uc010ila.2_Missense_Mutation_p.P283S|SMARCAD1_uc011cdw.1_5'Flank	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	420					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95575695	95575695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95575695T>C	uc003hti.2	+	10	1519	c.1368T>C	c.(1366-1368)ATT>ATC	p.I456I	PDLIM5_uc011cdx.1_Silent_p.I353I|PDLIM5_uc003hth.2_Silent_p.I347I|PDLIM5_uc003htj.2_Silent_p.I131I|PDLIM5_uc003htk.2_Silent_p.I485I|PDLIM5_uc011cdy.1_Silent_p.I334I|PDLIM5_uc003htl.2_Silent_p.I131I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	456	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96025677	96025677	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96025677C>T	uc003htm.3	+	4	376	c.102C>T	c.(100-102)TGC>TGT	p.C34C	BMPR1B_uc010ilb.2_Silent_p.C34C|BMPR1B_uc003htn.3_Silent_p.C34C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	34	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96035907	96035907	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96035907T>C	uc003htm.3	+	5	454	c.180T>C	c.(178-180)GAT>GAC	p.D60D	BMPR1B_uc010ilb.2_Silent_p.D60D|BMPR1B_uc003htn.3_Silent_p.D60D	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	60	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761865	96761865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96761865T>C	uc003htr.3	+	1	627	c.564T>C	c.(562-564)TGT>TGC	p.C188C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	188					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)													---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99969899	99969899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99969899G>A	uc003huf.3	+	9	920	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
ADH7	131	broad.mit.edu	37	4	100341722	100341722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100341722T>C	uc003huv.1	-	6	928	c.829A>G	c.(829-831)ACC>GCC	p.T277A		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	277					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)													---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522814	100522814	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100522814G>A	uc003hvc.3	+	11	1543	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	MTTP_uc011cej.1_Missense_Mutation_p.M456I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	429	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100824976	100824976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100824976A>T	uc003hvl.2	-	7	1073	c.922T>A	c.(922-924)TAT>AAT	p.Y308N	DNAJB14_uc003hvk.2_Missense_Mutation_p.Y223N|DNAJB14_uc010ili.2_Missense_Mutation_p.Y241N	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	308					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100844339	100844339	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100844339T>C	uc003hvl.2	-	3	460	c.309A>G	c.(307-309)ATA>ATG	p.I103M	DNAJB14_uc003hvk.2_Missense_Mutation_p.I18M|DNAJB14_uc010ili.2_Missense_Mutation_p.I36M	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	103					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108899	101108899	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108899C>A	uc003hvq.2	-	3	720	c.517G>T	c.(517-519)GGA>TGA	p.G173*		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	173					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108907	101108907	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108907A>G	uc003hvq.2	-	3	712	c.509T>C	c.(508-510)CTC>CCC	p.L170P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	170					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108927	101108927	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108927A>C	uc003hvq.2	-	3	692	c.489T>G	c.(487-489)GGT>GGG	p.G163G		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	163					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108948	101108948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108948A>G	uc003hvq.2	-	3	671	c.468T>C	c.(466-468)AGT>AGC	p.S156S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	156					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500113	103500113	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500113T>G	uc011ceq.1	+	8	1111	c.644T>G	c.(643-645)ATG>AGG	p.M215R	NFKB1_uc011cep.1_Missense_Mutation_p.M216R|NFKB1_uc011cer.1_Missense_Mutation_p.M35R	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	215	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500181	103500181	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500181G>A	uc011ceq.1	+	8	1179	c.712G>A	c.(712-714)GCC>ACC	p.A238T	NFKB1_uc011cep.1_Missense_Mutation_p.A239T|NFKB1_uc011cer.1_Missense_Mutation_p.A58T	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	238	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103501757	103501757	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103501757G>T	uc011ceq.1	+	9	1260	c.793G>T	c.(793-795)GGG>TGG	p.G265W	NFKB1_uc011cep.1_Missense_Mutation_p.G266W|NFKB1_uc011cer.1_Missense_Mutation_p.G85W	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	265	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103514652	103514652	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103514652T>C	uc011ceq.1	+	12	1601	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	NFKB1_uc011cep.1_Silent_p.S379S|NFKB1_uc011cer.1_Silent_p.S198S	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	378	GRR.|Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103527752	103527752	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103527752T>G	uc011ceq.1	+	17	2316	c.1849T>G	c.(1849-1851)TCT>GCT	p.S617A	NFKB1_uc011cep.1_Missense_Mutation_p.S618A|NFKB1_uc011cer.1_Missense_Mutation_p.S437A	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	617	Interaction with CFLAR.|ANK 3.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103595084	103595084	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103595084G>T	uc003hwg.2	-	8	1204	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T	MANBA_uc011ces.1_Silent_p.T311T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	368					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103827697	103827697	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103827697A>G	uc003hww.2	-	10	1313	c.1191T>C	c.(1189-1191)ATT>ATC	p.I397I	NHEDC1_uc003hwu.2_Silent_p.I397I|NHEDC1_uc010ilm.2_Silent_p.I164I|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Silent_p.I170I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	397						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103870469	103870469	+	Silent	SNP	T	A	A	rs139729203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103870469T>A	uc003hww.2	-	4	449	c.327A>T	c.(325-327)GGA>GGT	p.G109G	NHEDC1_uc003hwu.2_Silent_p.G109G|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	109	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104059586	104059586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104059586T>C	uc003hxb.1	-	39	6315	c.6225A>G	c.(6223-6225)GTA>GTG	p.V2075V	CENPE_uc003hxc.1_Silent_p.V1954V|CENPE_uc003hxd.1_RNA	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2075	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104080340	104080340	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104080340A>G	uc003hxb.1	-	22	2518	c.2428T>C	c.(2428-2430)TCG>CCG	p.S810P	CENPE_uc003hxc.1_Missense_Mutation_p.S785P	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	810	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104101599	104101599	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104101599T>C	uc003hxb.1	-	13	1201	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	CENPE_uc003hxc.1_Missense_Mutation_p.M371V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	371	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104106977	104106977	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104106977T>C	uc003hxb.1	-	9	825	c.735A>G	c.(733-735)ACA>ACG	p.T245T	CENPE_uc003hxc.1_Silent_p.T245T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	245	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104577457	104577457	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104577457A>C	uc003hxe.1	-	3	925	c.782T>G	c.(781-783)CTC>CGC	p.L261R		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	261	Helical; Name=5; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)														---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155657	106155657	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106155657G>A	uc003hxk.2	+	3	944	c.558G>A	c.(556-558)GAG>GAA	p.E186E	TET2_uc011cez.1_Silent_p.E207E|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.E186E|TET2_uc003hxi.1_Silent_p.E186E	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	186					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
TET2	54790	broad.mit.edu	37	4	106156631	106156631	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106156631A>G	uc003hxk.2	+	3	1918	c.1532A>G	c.(1531-1533)CAC>CGC	p.H511R	TET2_uc011cez.1_Missense_Mutation_p.H532R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H511R|TET2_uc003hxi.1_Missense_Mutation_p.H511R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	511					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106848532	106848532	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106848532G>A	uc003hya.2	+	3	417	c.212G>A	c.(211-213)GGG>GAG	p.G71E	NPNT_uc011cfc.1_Missense_Mutation_p.G88E|NPNT_uc011cfd.1_Missense_Mutation_p.G71E|NPNT_uc011cfe.1_Missense_Mutation_p.G71E|NPNT_uc010ilt.1_Missense_Mutation_p.G71E|NPNT_uc011cff.1_Missense_Mutation_p.G71E|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	71	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106861286	106861286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106861286T>C	uc003hya.2	+	6	765	c.560T>C	c.(559-561)GTC>GCC	p.V187A	NPNT_uc011cfc.1_Missense_Mutation_p.V204A|NPNT_uc011cfd.1_Missense_Mutation_p.V217A|NPNT_uc011cfe.1_Missense_Mutation_p.V217A|NPNT_uc010ilt.1_Missense_Mutation_p.V187A|NPNT_uc011cff.1_Missense_Mutation_p.V187A|NPNT_uc010ilu.1_Missense_Mutation_p.V83A	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	187	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108566127	108566127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108566127C>T	uc003hyk.2	-	10	1421	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	446	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
HADH	3033	broad.mit.edu	37	4	108954337	108954337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108954337G>A	uc003hyq.2	+	7	864	c.715G>A	c.(715-717)GCA>ACA	p.A239T	HADH_uc010ilx.2_Missense_Mutation_p.A256T|HADH_uc010ily.2_Missense_Mutation_p.A62T|HADH_uc003hyr.2_Missense_Mutation_p.A243T	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	239					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)													---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110427546	110427546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110427546A>G	uc003hzk.2	+	7	1606	c.1551A>G	c.(1549-1551)CCA>CCG	p.P517P	SEC24B_uc003hzl.2_Silent_p.P482P|SEC24B_uc011cfp.1_Silent_p.P547P|SEC24B_uc011cfq.1_Silent_p.P516P|SEC24B_uc011cfr.1_Silent_p.P481P	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	517					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)														---	---	---	---
CFI	3426	broad.mit.edu	37	4	110685814	110685814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110685814T>C	uc003hzr.3	-	3	569	c.361A>G	c.(361-363)ACA>GCA	p.T121A	CFI_uc003hzq.2_5'Flank|CFI_uc011cft.1_Missense_Mutation_p.T121A|CFI_uc003hzs.3_Missense_Mutation_p.T121A	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	121	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)														---	---	---	---
EGF	1950	broad.mit.edu	37	4	110925696	110925696	+	Missense_Mutation	SNP	C	A	A	rs121434567		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110925696C>A	uc003hzy.3	+	22	3661	c.3209C>A	c.(3208-3210)CCT>CAT	p.P1070H	EGF_uc011cfu.1_Missense_Mutation_p.P1028H|EGF_uc011cfv.1_Missense_Mutation_p.P1029H|EGF_uc010imk.2_Missense_Mutation_p.P218H	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1070	Cytoplasmic (Potential).		P -> L (in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation).		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)													---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111474605	111474605	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111474605T>C	uc003iab.3	+	18	2978	c.2636T>C	c.(2635-2637)GTC>GCC	p.V879A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	879	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113353667	113353667	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113353667G>A	uc003iap.3	+	11	3243	c.2964G>A	c.(2962-2964)AGG>AGA	p.R988R	ALPK1_uc003ian.3_Silent_p.R988R|ALPK1_uc011cfx.1_Silent_p.R910R|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.R816R	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	988							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113356299	113356299	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113356299C>T	uc003iap.3	+						ALPK1_uc003ian.3_Intron|ALPK1_uc011cfx.1_Intron|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Intron	NM_025144	NP_079420			alpha-kinase 1								ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113362087	113362087	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113362087A>G	uc003iap.3	+	15	3832	c.3553A>G	c.(3553-3555)AAT>GAT	p.N1185D	ALPK1_uc003ian.3_Missense_Mutation_p.N1185D|ALPK1_uc011cfx.1_Missense_Mutation_p.N1107D|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.N1013D	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1185	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
MIR302A	407028	broad.mit.edu	37	4	113569359	113569359	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113569359C>G	hsa-mir-302a|MI0000738	-			c.49C>G			LARP7_uc003iay.2_Intron|LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank|MIR302D_hsa-mir-302d|MI0000774_5'Flank|uc011cfz.1_RNA																	0																		---	---	---	---
ANK2	287	broad.mit.edu	37	4	114276808	114276808	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114276808A>G	uc003ibe.3	+	38	7134	c.7034A>G	c.(7033-7035)GAG>GGG	p.E2345G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2360G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277375	114277375	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114277375G>T	uc003ibe.3	+	38	7701	c.7601G>T	c.(7600-7602)AGC>ATC	p.S2534I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2549I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2501					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280116	114280116	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114280116A>G	uc003ibe.3	+	38	10442	c.10342A>G	c.(10342-10344)AGC>GGC	p.S3448G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S750G|ANK2_uc011cgb.1_Missense_Mutation_p.S3463G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3415					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114294255	114294255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114294255A>G	uc003ibe.3	+	44	11720	c.11620A>G	c.(11620-11622)ATG>GTG	p.M3874V	ANK2_uc003ibd.3_Missense_Mutation_p.M1780V|ANK2_uc003ibf.3_Missense_Mutation_p.M1789V|ANK2_uc011cgc.1_Missense_Mutation_p.M965V|ANK2_uc003ibg.3_Missense_Mutation_p.M804V|ANK2_uc003ibh.3_Missense_Mutation_p.M494V|ANK2_uc011cgd.1_Missense_Mutation_p.M1176V|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3841					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114473243	114473243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114473243T>C	uc003ibi.2	-	5	1144	c.285A>G	c.(283-285)GGA>GGG	p.G95G	CAMK2D_uc003ibj.2_Silent_p.G95G|CAMK2D_uc003ibk.2_Silent_p.G95G|CAMK2D_uc003ibo.3_Silent_p.G95G|CAMK2D_uc003ibm.2_Silent_p.G95G|CAMK2D_uc003ibn.2_Silent_p.G95G|CAMK2D_uc003ibl.2_Silent_p.G95G	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	95	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767046	115767046	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115767046A>G	uc003ibu.2	-	10	2727	c.2048T>C	c.(2047-2049)CTT>CCT	p.L683P	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	683	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115998016	115998016	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115998016T>A	uc003ibu.2	-	2	856	c.177A>T	c.(175-177)CCA>CCT	p.P59P	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	59	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005579	118005579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:118005579A>G	uc003ibv.3	-	1	1158	c.971T>C	c.(970-972)GTA>GCA	p.V324A		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	324	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631199	119631199	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631199A>G	uc003icf.2	+	11	1229	c.1113A>G	c.(1111-1113)GCA>GCG	p.A371A	METTL14_uc003icg.2_Silent_p.A333A	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	371						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631225	119631225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631225C>T	uc003icf.2	+	11	1255	c.1139C>T	c.(1138-1140)GCT>GTT	p.A380V	METTL14_uc003icg.2_Missense_Mutation_p.A342V	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	380						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644689	119644689	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644689A>G	uc003ici.3	-	23	3352	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.I1028T	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1027					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644736	119644736	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644736G>A	uc003ici.3	-	23	3305	c.3033C>T	c.(3031-3033)TAC>TAT	p.Y1011Y	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119686061	119686061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119686061A>G	uc003ici.3	-	10	1464	c.1192T>C	c.(1192-1194)TAT>CAT	p.Y398H	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399H|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119947952	119947952	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119947952C>A	uc003icm.3	+	3	624	c.428C>A	c.(427-429)GCT>GAT	p.A143D	SYNPO2_uc010ina.2_Missense_Mutation_p.A143D|SYNPO2_uc010inb.2_Missense_Mutation_p.A143D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A71D	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	143						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
MYOZ2	51778	broad.mit.edu	37	4	120107215	120107215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120107215T>G	uc003icp.3	+	6	868	c.655T>G	c.(655-657)TTT>GTT	p.F219V		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	219							protein phosphatase 2B binding				0																		---	---	---	---
USP53	54532	broad.mit.edu	37	4	120181691	120181691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120181691C>T	uc003ics.3	+	10	1771	c.705C>T	c.(703-705)CGC>CGT	p.R235R	USP53_uc003icr.3_Silent_p.R235R|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	235					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121719441	121719441	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121719441A>T	uc003idn.2	-	10	1419	c.1169T>A	c.(1168-1170)GTT>GAT	p.V390D	PRDM5_uc003ido.2_Missense_Mutation_p.V359D|PRDM5_uc010ine.2_Missense_Mutation_p.V359D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	390	C2H2-type 8.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121742449	121742449	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121742449C>G	uc003idn.2	-	4	602	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	PRDM5_uc003ido.2_Missense_Mutation_p.E118Q|PRDM5_uc010ine.2_Missense_Mutation_p.E118Q|PRDM5_uc010inf.2_Missense_Mutation_p.E118Q	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	118	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
C4orf31	79625	broad.mit.edu	37	4	121957507	121957507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121957507G>A	uc003idq.1	-	4	2146	c.1619C>T	c.(1618-1620)TCT>TTT	p.S540F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	540	Fibronectin type-III 2.										0																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122075702	122075702	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122075702A>G	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron|TNIP3_uc010ini.2_Missense_Mutation_p.S166P	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122728787	122728787	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122728787G>A	uc003iea.2	+						EXOSC9_uc003idz.2_Intron|EXOSC9_uc003ieb.2_Intron|EXOSC9_uc010inp.1_Intron	NM_005033	NP_005024			exosome component 9 isoform 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122782845	122782845	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122782845T>A	uc003ied.2	-						BBS7_uc003iee.1_Intron|BBS7_uc010inq.1_Intron	NM_176824	NP_789794			Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122833021	122833021	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122833021A>G	uc003ieg.2	-						TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Intron|TRPC3_uc011cgl.1_Intron	NM_001130698	NP_001124170			transient receptor potential cation channel,						axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107245	123107245	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123107245T>C	uc003ieh.2	+	5	458	c.413T>C	c.(412-414)GTC>GCC	p.V138A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	138					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123109221	123109221	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123109221T>G	uc003ieh.2	+	7	844	c.799T>G	c.(799-801)TAT>GAT	p.Y267D	KIAA1109_uc003iei.1_Missense_Mutation_p.Y21D	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	267					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123176118	123176118	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123176118T>C	uc003ieh.2	+						KIAA1109_uc003iel.1_Intron|KIAA1109_uc003iek.2_Intron	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123184100	123184100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123184100G>A	uc003ieh.2	+	41	6989	c.6944G>A	c.(6943-6945)AGC>AAC	p.S2315N	KIAA1109_uc003iel.1_Missense_Mutation_p.S250N|KIAA1109_uc003iek.2_Missense_Mutation_p.S934N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2315					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123229282	123229282	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123229282G>A	uc003ieh.2	+	56	10065	c.10020G>A	c.(10018-10020)CTG>CTA	p.L3340L	KIAA1109_uc003iel.1_Silent_p.L1275L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3340					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123254921	123254921	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123254921A>G	uc003ieh.2	+	66	11648	c.11603A>G	c.(11602-11604)GAC>GGC	p.D3868G	KIAA1109_uc003iem.2_Missense_Mutation_p.D259G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3868					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123257435	123257435	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123257435T>A	uc003ieh.2	+	68	11982	c.11937T>A	c.(11935-11937)AGT>AGA	p.S3979R	KIAA1109_uc003iem.2_Missense_Mutation_p.S335R|KIAA1109_uc003ien.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3979					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302219	123302219	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123302219T>A	uc003ieo.2	+	4	477	c.245T>A	c.(244-246)ATA>AAA	p.I82K	ADAD1_uc003iep.2_Missense_Mutation_p.I82K|ADAD1_uc003ieq.2_Missense_Mutation_p.I64K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	82					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123329057	123329057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123329057T>C	uc003ieo.2	+						ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Intron	NM_139243	NP_640336			adenosine deaminase domain containing 1						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123838694	123838694	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123838694C>T	uc003iew.2	-	2	436	c.404G>A	c.(403-405)AGA>AAA	p.R135K	NUDT6_uc003iex.2_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	135						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123843587	123843587	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123843587C>A	uc003iew.2	-	1	173	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	47						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123844395	123844395	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123844395C>T	uc003iez.3	+	1	171	c.98C>T	c.(97-99)CCT>CTT	p.P33L	SPATA5_uc003iey.2_Missense_Mutation_p.P33L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	33					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590911	125590911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125590911C>T	uc003ifg.3	-	3	3787	c.3521G>A	c.(3520-3522)CGG>CAG	p.R1174Q	ANKRD50_uc011cgo.1_Missense_Mutation_p.R995Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R1174Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1174	Ser-rich.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591399	125591399	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591399T>C	uc003ifg.3	-	3	3299	c.3033A>G	c.(3031-3033)GAA>GAG	p.E1011E	ANKRD50_uc011cgo.1_Silent_p.E832E|ANKRD50_uc010inw.2_Silent_p.E1011E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1011	ANK 17.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591412	125591412	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591412G>T	uc003ifg.3	-	3	3286	c.3020C>A	c.(3019-3021)GCT>GAT	p.A1007D	ANKRD50_uc011cgo.1_Missense_Mutation_p.A828D|ANKRD50_uc010inw.2_Missense_Mutation_p.A1007D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1007	ANK 16.									central_nervous_system(1)	1																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239682	126239682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239682A>G	uc003ifj.3	+	1	2116	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	706	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241702	126241702	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126241702A>T	uc003ifj.3	+	1	4136	c.4136A>T	c.(4135-4137)GAC>GTC	p.D1379V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1379	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371457	126371457	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126371457G>A	uc003ifj.3	+	9	9286	c.9286G>A	c.(9286-9288)GCA>ACA	p.A3096T	FAT4_uc011cgp.1_Missense_Mutation_p.A1394T|FAT4_uc003ifi.1_Missense_Mutation_p.A574T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3096	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373323	126373323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126373323G>A	uc003ifj.3	+	9	11152	c.11152G>A	c.(11152-11154)GGC>AGC	p.G3718S	FAT4_uc011cgp.1_Missense_Mutation_p.G2016S|FAT4_uc003ifi.1_Missense_Mutation_p.G1196S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3718	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411099	126411099	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126411099A>C	uc003ifj.3	+	17	13122	c.13122A>C	c.(13120-13122)GAA>GAC	p.E4374D	FAT4_uc011cgp.1_Missense_Mutation_p.E2615D|FAT4_uc003ifi.1_Missense_Mutation_p.E1851D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4374	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412663	126412663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126412663C>T	uc003ifj.3	+	17	14686	c.14686C>T	c.(14686-14688)CGC>TGC	p.R4896C	FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4896	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128584698	128584698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128584698T>C	uc003ifk.1	+	4	1001	c.931T>C	c.(931-933)TAT>CAT	p.Y311H	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	311										ovary(1)	1																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128627710	128627710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128627710A>G	uc003ifk.1	+	12	1927	c.1857A>G	c.(1855-1857)GGA>GGG	p.G619G	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	619										ovary(1)	1																		---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128724795	128724795	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128724795T>C	uc003ifm.2	+	7	928	c.675T>C	c.(673-675)ACT>ACC	p.T225T	HSPA4L_uc010iny.1_Silent_p.T184T|HSPA4L_uc011cgr.1_Silent_p.T192T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	225					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129812262	129812262	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129812262G>A	uc003igp.2	-	19	2366	c.1860C>T	c.(1858-1860)ACC>ACT	p.T620T	SCLT1_uc003ign.2_Silent_p.T284T|SCLT1_uc003igo.2_Silent_p.T230T|SCLT1_uc003igq.2_Silent_p.T239T|SCLT1_uc010iob.1_Silent_p.T107T	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	620	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129886438	129886438	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129886438T>G	uc003igp.2	-	11	1319	c.813A>C	c.(811-813)GAA>GAC	p.E271D	SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	271	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129920859	129920859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129920859G>A	uc003igp.2	-	7	1023	c.517C>T	c.(517-519)CAG>TAG	p.Q173*	SCLT1_uc003igo.2_5'Flank|SCLT1_uc003igq.2_Nonsense_Mutation_p.Q173*|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	173	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071888	134071888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134071888G>A	uc003iha.2	+	1	1419	c.593G>A	c.(592-594)CGC>CAC	p.R198H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R198H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073742	134073742	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134073742A>G	uc003iha.2	+	1	3273	c.2447A>G	c.(2446-2448)AAC>AGC	p.N816S	PCDH10_uc003igz.2_Missense_Mutation_p.N816S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	816	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
SLC7A11	23657	broad.mit.edu	37	4	139103485	139103485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139103485C>T	uc011chb.1	-	9	1362	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	361	Cytoplasmic (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)													---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140265423	140265423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140265423A>T	uc003ihu.1	+	6	877	c.621A>T	c.(619-621)AGA>AGT	p.R207S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	207					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641423	140641423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140641423C>T	uc003ihz.1	-	7	3208	c.2456G>A	c.(2455-2457)CGA>CAA	p.R819Q	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R287Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	820	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811420	140811420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811420C>T	uc003ihz.1	-	2	1922	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	390					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811851	140811851	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811851C>A	uc003ihz.1	-	2	1491	c.739G>T	c.(739-741)GGT>TGT	p.G247C	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	247					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141310438	141310438	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141310438G>A	uc011chi.1	-	16	1991	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	CLGN_uc003iii.2_Silent_p.S591S	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	591	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141321662	141321662	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141321662T>C	uc011chi.1	-	8	761	c.543A>G	c.(541-543)GGA>GGG	p.G181G	CLGN_uc003iii.2_Silent_p.G181G	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	181	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
RNF150	57484	broad.mit.edu	37	4	142053845	142053845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142053845A>G	uc003iio.1	-	1	772	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	RNF150_uc010iok.1_Missense_Mutation_p.Y40H|RNF150_uc003iip.1_Missense_Mutation_p.Y40H	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	40	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
IL15	3600	broad.mit.edu	37	4	142649144	142649144	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142649144A>G	uc003iis.2	+						IL15_uc003iit.2_Intron|IL15_uc010iol.2_Intron|IL15_uc003iiu.2_Intron	NM_000585	NP_000576			interleukin 15 preproprotein						cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143067143	143067143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143067143C>T	uc003iix.3	-	19	2165	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	INPP4B_uc003iiw.3_Missense_Mutation_p.V524M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V339M|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V395M	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	524					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143181673	143181673	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143181673T>G	uc003iix.3	-	12	1255	c.660A>C	c.(658-660)GGA>GGC	p.G220G	INPP4B_uc003iiw.3_Silent_p.G220G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G35G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G91G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144127279	144127279	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144127279A>G	uc003ijb.2	+	6	1837	c.1303A>G	c.(1303-1305)AGA>GGA	p.R435G	USP38_uc003ija.3_Missense_Mutation_p.R435G|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	435					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)																	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144380563	144380563	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144380563A>G	uc003ije.2	+	7	1970	c.1611A>G	c.(1609-1611)AAA>AAG	p.K537K	GAB1_uc003ijd.2_Silent_p.K567K|GAB1_uc011chq.1_Silent_p.K434K	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	537	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)																	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144468578	144468578	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144468578G>A	uc003ijg.2	+	21	3156	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
GYPA	2993	broad.mit.edu	37	4	145038087	145038087	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:145038087T>G	uc003ijo.3	-	5	393	c.277A>C	c.(277-279)ACA>CCA	p.T93P	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.T60P|GYPA_uc003ijp.3_Missense_Mutation_p.T61P|GYPA_uc010ioq.2_Missense_Mutation_p.T80P|GYPA_uc010ior.2_Missense_Mutation_p.T28P|GYPA_uc010ios.1_RNA	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	93	Helical.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058572	146058572	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146058572G>A	uc003ika.3	-	21					OTUD4_uc003ijz.3_3'UTR	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146059221	146059221	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146059221A>G	uc003ika.3	-	21	2649	c.2511T>C	c.(2509-2511)GAT>GAC	p.D837D	OTUD4_uc003ijz.3_Silent_p.D836D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	901							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146065564	146065564	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146065564G>T	uc003ika.3	-	15	1388	c.1250C>A	c.(1249-1251)GCT>GAT	p.A417D	OTUD4_uc003ijz.3_Missense_Mutation_p.A416D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	481							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146076712	146076712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146076712T>C	uc003ika.3	-						OTUD4_uc003ijz.3_Intron	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146468016	146468016	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146468016C>T	uc003ikc.2	+	5	1353	c.937C>T	c.(937-939)CTG>TTG	p.L313L	SMAD1_uc003ikd.2_Silent_p.L313L|SMAD1_uc010iov.2_Silent_p.L313L|SMAD1_uc011cic.1_Silent_p.L274L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	313	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146770638	146770638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146770638A>G	uc003ikn.2	-	6	2105	c.2057T>C	c.(2056-2058)GTC>GCC	p.V686A	ZNF827_uc003ikm.2_Missense_Mutation_p.V686A|ZNF827_uc010iox.2_Missense_Mutation_p.V336A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146806922	146806922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146806922T>C	uc003ikn.2	-	4	1703	c.1655A>G	c.(1654-1656)GAC>GGC	p.D552G	ZNF827_uc003ikm.2_Missense_Mutation_p.D552G|ZNF827_uc010iox.2_Missense_Mutation_p.D202G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560286	147560286	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147560286C>T	uc003ikv.2	+	1						NM_004575	NP_004566			Brn3b POU domain transcription factor						estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)																	---	---	---	---
PRMT10	90826	broad.mit.edu	37	4	148578932	148578932	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148578932A>G	uc003ilc.2	-						PRMT10_uc003ilb.2_Intron|PRMT10_uc003ild.2_Intron	NM_138364	NP_612373			protein arginine methyltransferase 10							cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148803060	148803060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148803060T>C	uc003ilf.2	+	10	1011	c.1011T>C	c.(1009-1011)TGT>TGC	p.C337C	ARHGAP10_uc003ilg.2_5'UTR	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	337	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148993239	148993239	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148993239G>A	uc003ilf.2	+	23					ARHGAP10_uc003ilg.2_3'UTR|ARHGAP10_uc003ilh.2_3'UTR|ARHGAP10_uc003ili.2_3'UTR	NM_024605	NP_078881			Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
MAB21L2	10586	broad.mit.edu	37	4	151504543	151504543	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151504543G>C	uc003ilw.2	+	1	1467	c.362G>C	c.(361-363)GGC>GCC	p.G121A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	121					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)														---	---	---	---
TIGD4	201798	broad.mit.edu	37	4	153690946	153690946	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153690946G>T	uc003imy.2	-	2	1993	c.1211C>A	c.(1210-1212)GCT>GAT	p.A404D		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	404					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)																	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896633	153896633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153896633T>C	uc003inf.2	+	11	2265	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	730					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)																	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154191569	154191569	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154191569C>A	uc003ing.2	+	2	233	c.32C>A	c.(31-33)CCT>CAT	p.P11H	TRIM2_uc003inh.2_Missense_Mutation_p.P38H|TRIM2_uc003ini.1_Missense_Mutation_p.P29H	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	11						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154216755	154216755	+	Silent	SNP	C	T	T	rs116558260	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154216755C>T	uc003ing.2	+	6	1197	c.996C>T	c.(994-996)GGC>GGT	p.G332G	TRIM2_uc003inh.2_Silent_p.G359G	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	332	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154508908	154508908	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154508908T>G	uc003inm.3	+	15	1546	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	KIAA0922_uc010ipp.2_Silent_p.G499G|KIAA0922_uc010ipq.2_Silent_p.G351G|KIAA0922_uc010ips.1_Missense_Mutation_p.V109G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	498	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625730	154625730	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154625730T>C	uc003inq.2	+	3	1890	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	TLR2_uc003inr.2_Silent_p.D557D|TLR2_uc003ins.2_Silent_p.D557D	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	557	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)																---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156833	155156833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155156833C>T	uc003inw.2	-	25	7606	c.7606G>A	c.(7606-7608)GCC>ACC	p.A2536T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157336	155157336	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155157336T>A	uc003inw.2	-	25	7103	c.7103A>T	c.(7102-7104)GAT>GTT	p.D2368V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2368	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
FGA	2243	broad.mit.edu	37	4	155509977	155509977	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155509977T>C	uc003iod.1	-	3	390	c.332A>G	c.(331-333)GAA>GGA	p.E111G	FGA_uc003ioe.1_Missense_Mutation_p.E111G|FGA_uc003iof.1_Missense_Mutation_p.E111G	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	111	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	A	A	rs121909606		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155510666G>A	uc003iod.1	-	2	161	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156625120	156625120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156625120G>A	uc003iov.2	+	5	828	c.292G>A	c.(292-294)GCA>ACA	p.A98T	GUCY1A3_uc003iou.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqc.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iow.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iox.2_Missense_Mutation_p.A98T|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A98T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	98					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156629407	156629407	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156629407G>T	uc003iov.2	+	6	873	c.337G>T	c.(337-339)GAC>TAC	p.D113Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iow.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iox.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D113Y	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	113					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632185	156632185	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156632185T>A	uc003iov.2	+	7	1404	c.868T>A	c.(868-870)TTC>ATC	p.F290I	GUCY1A3_uc003iou.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.F290I|GUCY1A3_uc003iow.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.F289I|GUCY1A3_uc003iox.2_Missense_Mutation_p.F290I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.F290I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	290					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156723547	156723547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156723547G>A	uc003ipc.2	+	10	1396	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	GUCY1B3_uc011cio.1_Missense_Mutation_p.R432H|GUCY1B3_uc011cip.1_Missense_Mutation_p.R390H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R338H|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R381H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R338H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	410					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156858514	156858514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156858514C>A	uc003ipg.2	-	5	723	c.674G>T	c.(673-675)AGT>ATT	p.S225I		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	225					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284014	158284014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158284014C>T	uc003ipm.3	+	15	2929	c.2470C>T	c.(2470-2472)CTT>TTT	p.L824F	GRIA2_uc011cit.1_Missense_Mutation_p.L777F|GRIA2_uc003ipl.3_Missense_Mutation_p.L824F|GRIA2_uc003ipk.3_Missense_Mutation_p.L777F|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	824	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)													---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159052070	159052070	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159052070T>C	uc003ipp.3	-	4	1672	c.1220A>G	c.(1219-1221)CAA>CGA	p.Q407R	FAM198B_uc003ipq.3_Missense_Mutation_p.Q415R|FAM198B_uc003ipr.3_Missense_Mutation_p.Q407R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	407	Extracellular (Potential).					Golgi membrane|integral to membrane					0																		---	---	---	---
PPID	5481	broad.mit.edu	37	4	159640370	159640370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159640370A>G	uc003iqc.2	-	3	407	c.295T>C	c.(295-297)TAT>CAT	p.Y99H		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	99	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160252876	160252876	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160252876C>A	uc003iqg.3	+	9	1497	c.1187C>A	c.(1186-1188)CCT>CAT	p.P396H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	396	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160264153	160264153	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160264153G>A	uc003iqg.3	+	15	2768	c.2458G>A	c.(2458-2460)GCA>ACA	p.A820T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	820	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393149	164393149	+	Missense_Mutation	SNP	C	T	T	rs140731828		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393149C>T	uc003iqp.3	-	1	1899	c.1738G>A	c.(1738-1740)GTC>ATC	p.V580I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	580						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166159928	166159928	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166159928A>G	uc003irb.2	+	4	519	c.260_splice	c.e4-2	p.G87_splice	KLHL2_uc011cjm.1_Splice_Site_p.G91_splice|KLHL2_uc003irc.2_Splice_Site	NM_007246	NP_009177			kelch-like 2, Mayven isoform 1						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166160009	166160009	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166160009T>C	uc003irb.2	+	4	598	c.339T>C	c.(337-339)TAT>TAC	p.Y113Y	KLHL2_uc011cjm.1_Silent_p.Y117Y|KLHL2_uc003irc.2_Silent_p.Y25Y	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	113	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166232671	166232671	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166232671T>A	uc003irb.2	+	11	1552	c.1293T>A	c.(1291-1293)GCT>GCA	p.A431A	KLHL2_uc011cjm.1_Silent_p.A435A|KLHL2_uc003irc.2_Silent_p.A343A|KLHL2_uc010ira.2_Silent_p.A84A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	431	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166924671	166924671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166924671G>A	uc003irh.1	+	6	1408	c.761G>A	c.(760-762)AGA>AAA	p.R254K	TLL1_uc011cjn.1_Missense_Mutation_p.R254K|TLL1_uc011cjo.1_Missense_Mutation_p.R78K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	254	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167656082	167656082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167656082A>G	uc003iri.1	-	12	1442	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A	SPOCK3_uc011cjp.1_Missense_Mutation_p.V391A|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443A|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314A|SPOCK3_uc003irj.1_Missense_Mutation_p.V431A|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383A|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342A|SPOCK3_uc011cju.1_Missense_Mutation_p.V327A|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336A	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167675702	167675702	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167675702T>A	uc003iri.1	-	9	1038	c.897A>T	c.(895-897)TTA>TTT	p.L299F	SPOCK3_uc011cjp.1_Missense_Mutation_p.L256F|SPOCK3_uc011cjq.1_Missense_Mutation_p.L308F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L179F|SPOCK3_uc003irj.1_Missense_Mutation_p.L296F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L248F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L207F|SPOCK3_uc011cju.1_Missense_Mutation_p.L192F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L201F|SPOCK3_uc003irk.3_Missense_Mutation_p.L296F	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	299					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
ANXA10	11199	broad.mit.edu	37	4	169099117	169099117	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169099117A>G	uc003irm.2	+	8	756	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	ANXA10_uc003irn.2_Missense_Mutation_p.Y76C	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	204	Annexin 3.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176911	169176911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176911C>T	uc003irp.2	-	26	3800	c.3508G>A	c.(3508-3510)GCT>ACT	p.A1170T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1170							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176992	169176992	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176992C>T	uc003irp.2	-	26	3719	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1143							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169294923	169294923	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169294923A>G	uc003irq.3	-	35	4891	c.4670T>C	c.(4669-4671)GTG>GCG	p.V1557A		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1557							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)														---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169433123	169433123	+	Silent	SNP	G	A	A	rs146108255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169433123G>A	uc011cjx.1	+	2	679	c.468G>A	c.(466-468)ACG>ACA	p.T156T	PALLD_uc003iru.2_Silent_p.T156T	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)										Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613350	170613350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170613350C>A	uc003isi.2	+	7	1324	c.815C>A	c.(814-816)GCT>GAT	p.A272D	CLCN3_uc003ish.2_Missense_Mutation_p.A272D|CLCN3_uc011cjz.1_Missense_Mutation_p.A255D|CLCN3_uc011cka.1_Missense_Mutation_p.A272D|CLCN3_uc003isj.1_Missense_Mutation_p.A245D	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	272	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)														---	---	---	---
C4orf27	54969	broad.mit.edu	37	4	170663209	170663209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170663209T>C	uc003isl.3	-	5	612	c.547A>G	c.(547-549)AAT>GAT	p.N183D		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	183						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)														---	---	---	---
AADAT	51166	broad.mit.edu	37	4	171010811	171010811	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:171010811T>C	uc003isr.2	-	1	373	c.31A>G	c.(31-33)AGC>GGC	p.S11G	AADAT_uc003iss.2_Missense_Mutation_p.S11G|AADAT_uc003ist.2_Missense_Mutation_p.S11G	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	11					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177071675	177071675	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177071675T>C	uc003iuj.2	+	17	2463	c.2307T>C	c.(2305-2307)GAT>GAC	p.D769D	WDR17_uc003iuk.2_Silent_p.D745D|WDR17_uc003ium.3_Silent_p.D745D|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'UTR	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	769										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098614	177098614	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177098614A>G	uc003iuj.2	+						WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Intron	NM_170710	NP_733828			WD repeat domain 17 isoform 1											ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183575044	183575044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183575044A>G	uc003ivd.1	+	5	1146	c.1109A>G	c.(1108-1110)AAT>AGT	p.N370S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	370	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183652077	183652077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183652077G>A	uc003ivd.1	+	15	2789	c.2752G>A	c.(2752-2754)GAA>AAA	p.E918K	ODZ3_uc003ive.1_Missense_Mutation_p.E324K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	918	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183659700	183659700	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183659700A>G	uc003ivd.1	+						ODZ3_uc003ive.1_Intron	NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
C4orf41	60684	broad.mit.edu	37	4	184585014	184585014	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184585014C>T	uc003ivx.2	+	2					C4orf41_uc003ivw.2_5'UTR|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761			hypothetical protein LOC60684 isoform a												0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185309962	185309962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185309962C>T	uc003iwf.3	-	9	1200	c.1000G>A	c.(1000-1002)GTC>ATC	p.V334I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	334					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185329430	185329430	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185329430C>T	uc003iwf.3	-	6	612	c.412_splice	c.e6-1	p.Q138_splice		NM_002199	NP_002190			interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185340707G>A	uc003iwf.3	-	3	303	c.103C>T	c.(103-105)CAG>TAG	p.Q35*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
CCDC111	201973	broad.mit.edu	37	4	185593326	185593326	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185593326G>T	uc003iwk.2	+	7	990	c.557_splice	c.e7-1	p.G186_splice	CCDC111_uc010isd.1_Splice_Site|CCDC111_uc003iwj.2_Splice_Site_p.G186_splice|CCDC111_uc003iwl.2_Splice_Site_p.G186_splice|CCDC111_uc003iwm.2_Splice_Site_p.G57_splice|CCDC111_uc003iwn.2_Splice_Site_p.G11_splice	NM_152683	NP_689896			coiled-coil domain containing 111						DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)														---	---	---	---
SLC25A4	291	broad.mit.edu	37	4	186065961	186065961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186065961A>G	uc003ixd.2	+	2	284	c.155A>G	c.(154-156)AAA>AGA	p.K52R	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	52	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)													---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186253808	186253808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186253808A>C	uc003ixh.2	+	10	1506	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	SNX25_uc010ish.2_Missense_Mutation_p.E210D|SNX25_uc003ixi.2_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	439	Potential.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186381022	186381022	+	Missense_Mutation	SNP	T	A	A	rs143728634		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186381022T>A	uc003ixu.3	-	6	795	c.719A>T	c.(718-720)GAC>GTC	p.D240V	CCDC110_uc003ixv.3_Missense_Mutation_p.D203V|CCDC110_uc011ckt.1_Missense_Mutation_p.D240V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	240						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186382236	186382236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186382236A>T	uc003ixu.3	-	5	391	c.315T>A	c.(313-315)AAT>AAA	p.N105K	CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.N105K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	105						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186533060	186533060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186533060T>C	uc003iyl.2	-	18	3816	c.2958A>G	c.(2956-2958)CAA>CAG	p.Q986Q	SORBS2_uc003iyh.2_Silent_p.Q710Q|SORBS2_uc011ckw.1_Silent_p.Q547Q|SORBS2_uc003iyi.2_Silent_p.Q617Q|SORBS2_uc011ckx.1_Silent_p.Q552Q|SORBS2_uc003iyk.2_Silent_p.Q530Q|SORBS2_uc003iym.2_Silent_p.Q1086Q|SORBS2_uc003iyn.1_Silent_p.Q577Q|SORBS2_uc011cku.1_Silent_p.Q378Q|SORBS2_uc011ckv.1_Silent_p.Q890Q|SORBS2_uc003iyd.2_Silent_p.Q685Q|SORBS2_uc003iye.2_Silent_p.Q559Q|SORBS2_uc003iya.2_Silent_p.Q506Q|SORBS2_uc003iyb.2_Silent_p.Q459Q|SORBS2_uc003iyc.2_Silent_p.Q439Q|SORBS2_uc003iyg.2_Silent_p.Q1100Q|SORBS2_uc003iyf.2_Silent_p.Q522Q|SORBS2_uc003iyo.1_Silent_p.Q435Q	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	986	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544479	186544479	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186544479C>T	uc003iyl.2	-	13	2950	c.2092G>A	c.(2092-2094)GCT>ACT	p.A698T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A798T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A602T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A812T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	698						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187177156	187177156	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187177156A>C	uc003iyy.2	+	13	1571	c.1500A>C	c.(1498-1500)AAA>AAC	p.K500N	KLKB1_uc011clc.1_Missense_Mutation_p.K298N|KLKB1_uc011cld.1_Missense_Mutation_p.K462N	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	500	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)														---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187521118	187521118	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187521118C>T	uc003izf.2	-	22	12225	c.12037G>A	c.(12037-12039)GCC>ACC	p.A4013T	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4013	Extracellular (Potential).|EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187524831	187524831	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187524831T>C	uc003izf.2	-	19	11037	c.10849A>G	c.(10849-10851)ACA>GCA	p.T3617A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3617	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540078	187540078	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187540078A>C	uc003izf.2	-	10	7850	c.7662T>G	c.(7660-7662)CTT>CTG	p.L2554L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2554	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541346	187541346	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541346A>C	uc003izf.2	-	10	6582	c.6394T>G	c.(6394-6396)TTG>GTG	p.L2132V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2132	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549799	187549799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549799A>G	uc003izf.2	-	8	4630	c.4442T>C	c.(4441-4443)GTG>GCG	p.V1481A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1481	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549801	187549801	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549801A>G	uc003izf.2	-	8	4628	c.4440T>C	c.(4438-4440)GCT>GCC	p.A1480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1480	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187627796	187627796	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187627796G>A	uc003izf.2	-	2	3374	c.3186C>T	c.(3184-3186)GAC>GAT	p.D1062D	FAT1_uc010iso.1_Silent_p.D1062D	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1062	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188923990	188923990	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:188923990A>G	uc003izg.1	+	3	274	c.29A>G	c.(28-30)AAG>AGG	p.K10R	ZFP42_uc003izh.1_Missense_Mutation_p.K10R|ZFP42_uc003izi.1_Missense_Mutation_p.K10R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	10					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)														---	---	---	---
TUBB4Q	56604	broad.mit.edu	37	4	190905503	190905503	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190905503G>A	uc011clg.1	-	3	184	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	169511	169511	+	Missense_Mutation	SNP	G	A	A	rs146749875		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169511G>A	uc003jak.2	+	12	2515	c.2465G>A	c.(2464-2466)CGG>CAG	p.R822Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)														---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	192330	192330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:192330C>T	uc003jal.1	+	1	705	c.677C>T	c.(676-678)GCG>GTG	p.A226V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	226										skin(1)	1																		---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	195116	195116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:195116A>T	uc003jal.1	+	2	1221	c.1193A>T	c.(1192-1194)AAC>ATC	p.N398I		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	398	LRR 5.									skin(1)	1																		---	---	---	---
CCDC127	133957	broad.mit.edu	37	5	205460	205460	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:205460G>A	uc003jam.1	-	3	835	c.735C>T	c.(733-735)GTC>GTT	p.V245V		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	245											0			all cancers(22;0.0236)|Lung(60;0.113)															---	---	---	---
SDHA	6389	broad.mit.edu	37	5	235410	235410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:235410G>A	uc003jao.3	+	9	1331	c.1216G>A	c.(1216-1218)GTG>ATG	p.V406M	SDHA_uc003jan.2_Missense_Mutation_p.V406M|SDHA_uc011clv.1_Missense_Mutation_p.V406M|SDHA_uc011clw.1_Missense_Mutation_p.V358M|SDHA_uc003jap.3_Missense_Mutation_p.V406M|SDHA_uc003jaq.3_Missense_Mutation_p.V181M|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	406					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
PDCD6	10016	broad.mit.edu	37	5	306755	306755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:306755A>G	uc003jat.1	+	4	347	c.247A>G	c.(247-249)AGC>GGC	p.S83G	AHRR_uc003jav.2_Intron|AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.S115G	NM_013232	NP_037364	O75340	PDCD6_HUMAN	programmed cell death 6	83	EF-hand 2.|2 (Potential).				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(1)	1			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)															---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	453871	453871	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:453871A>G	uc003jba.2	+	4	879	c.751A>G	c.(751-753)ATC>GTC	p.I251V		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	262					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640603	640603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:640603G>A	uc003jbf.2	+	9	1495	c.1423G>A	c.(1423-1425)GGC>AGC	p.G475S		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	475					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)															---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2748698	2748698	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2748698G>A	uc003jda.2	-	3	1366	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	IRX2_uc003jdb.2_Missense_Mutation_p.S375L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	375						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749541	2749541	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2749541G>T	uc003jda.2	-	2	852	c.610C>A	c.(610-612)CCC>ACC	p.P204T	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.P204T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
C5orf38	153571	broad.mit.edu	37	5	2752744	2752744	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2752744T>C	uc003jdc.2	+	2	326	c.209T>C	c.(208-210)TTG>TCG	p.L70S	C5orf38_uc011cmg.1_Missense_Mutation_p.L70S|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	70						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)														---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3600783	3600783	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3600783C>T	uc003jde.2	+	3	1425	c.1373C>T	c.(1372-1374)CCG>CTG	p.P458L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463038	5463038	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463038T>C	uc003jdm.3	+	13	3813	c.3591T>C	c.(3589-3591)TCT>TCC	p.S1197S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1197										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463287	5463287	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463287A>T	uc003jdm.3	+	13	4062	c.3840A>T	c.(3838-3840)AAA>AAT	p.K1280N		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1280										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5464075	5464075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5464075A>G	uc003jdm.3	+	13	4850	c.4628A>G	c.(4627-4629)AAC>AGC	p.N1543S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1543										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7773061	7773061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7773061G>A	uc003jdz.1	+	18	2298	c.2231G>A	c.(2230-2232)TGC>TAC	p.C744Y	ADCY2_uc011cmo.1_Missense_Mutation_p.C564Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	744	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9054308	9054308	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9054308T>C	uc003jek.2	-	19	3292	c.2580A>G	c.(2578-2580)GGA>GGG	p.G860G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	860	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154655	9154655	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154655G>A	uc003jek.2	-	12	2138	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	476	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154780	9154780	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154780A>G	uc003jek.2	-	12	2013	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	434	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10464976	10464976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10464976G>A	uc003jex.3	+	5	881	c.610G>A	c.(610-612)GGC>AGC	p.G204S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	204					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10992687	10992687	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10992687G>A	uc003jfa.1	-	19	3332	c.3187C>T	c.(3187-3189)CGC>TGC	p.R1063C	CTNND2_uc010itt.2_Missense_Mutation_p.R972C|CTNND2_uc011cmy.1_Missense_Mutation_p.R726C|CTNND2_uc011cmz.1_Missense_Mutation_p.R630C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R655C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411702	11411702	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11411702T>G	uc003jfa.1	-	5	530	c.385A>C	c.(385-387)AGG>CGG	p.R129R	CTNND2_uc010itt.2_Silent_p.R38R|CTNND2_uc011cmy.1_Silent_p.R38R|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	129					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735943	13735943	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13735943C>A	uc003jfd.2	-	67	11596	c.11554G>T	c.(11554-11556)GAC>TAC	p.D3852Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D20Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3852					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13759025	13759025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13759025T>C	uc003jfd.2	-	61	10391	c.10349A>G	c.(10348-10350)GAG>GGG	p.E3450G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3450	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13811930	13811930	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13811930A>C	uc003jfd.2	-	44	7275	c.7233T>G	c.(7231-7233)GGT>GGG	p.G2411G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2411	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13882935	13882935	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13882935A>G	uc003jfd.2	-							NM_001369	NP_001360			dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919401	13919401	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13919401G>A	uc003jfd.2	-	7	901	c.859C>T	c.(859-861)CTG>TTG	p.L287L	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	287	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14485290	14485290	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14485290G>T	uc003jff.2	+	47	6776	c.6770G>T	c.(6769-6771)AGT>ATT	p.S2257I	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1906I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2257	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14492761	14492761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14492761A>G	uc003jff.2	+	49	7724	c.7718A>G	c.(7717-7719)TAC>TGC	p.Y2573C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2573	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
FAM105B	90268	broad.mit.edu	37	5	14681660	14681660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14681660G>A	uc003jfk.2	+	4	564	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	138										ovary(2)	2	Lung NSC(4;0.00696)																	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14871519	14871519	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14871519A>G	uc003jfm.3	-	1	369	c.38T>C	c.(37-39)CTG>CCG	p.L13P		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	13	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16672884	16672884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16672884C>T	uc003jft.3	-	37	5691	c.5223G>A	c.(5221-5223)ATG>ATA	p.M1741I	MYO10_uc011cnb.1_Missense_Mutation_p.M370I|MYO10_uc011cnc.1_Missense_Mutation_p.M620I|MYO10_uc011cnd.1_Missense_Mutation_p.M1098I|MYO10_uc011cne.1_Missense_Mutation_p.M1098I|MYO10_uc010itx.2_Missense_Mutation_p.M1363I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1741	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975268	21975268	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975268A>T	uc010iuc.2	-	3	916	c.458T>A	c.(457-459)ATT>AAT	p.I153N	CDH12_uc011cno.1_Missense_Mutation_p.I153N|CDH12_uc003jgk.2_Missense_Mutation_p.I153N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	153	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078547	22078547	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078547G>T	uc010iuc.2	-						CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron	NM_004061	NP_004052			cadherin 12, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23522467	23522467	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23522467G>C	uc003jgo.2	+	7	745	c.563G>C	c.(562-564)GGT>GCT	p.G188A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	188					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488088	24488088	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24488088T>A	uc003jgr.1	-	12	2383	c.2051A>T	c.(2050-2052)AAA>ATA	p.K684I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881477	26881477	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26881477T>C	uc003jgs.1	-	12	2307	c.2138A>G	c.(2137-2139)CAA>CGA	p.Q713R	CDH9_uc011cnv.1_Missense_Mutation_p.Q306R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	713	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886083	26886083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26886083T>C	uc003jgs.1	-	10	1791	c.1622A>G	c.(1621-1623)GAT>GGT	p.D541G	CDH9_uc011cnv.1_Missense_Mutation_p.D134G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	541	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26906938	26906938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26906938A>G	uc003jgs.1	-	4	702	c.533T>C	c.(532-534)GTT>GCT	p.V178A	CDH9_uc010iug.2_Missense_Mutation_p.V178A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305342	31305342	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31305342T>G	uc003jhe.1	+	7	1387	c.1061T>G	c.(1060-1062)GTT>GGT	p.V354G	CDH6_uc003jhd.1_Missense_Mutation_p.V354G	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	354	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7																		---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31526342	31526342	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31526342T>A	uc003jhg.2	-	4	1057	c.698A>T	c.(697-699)CAC>CTC	p.H233L	RNASEN_uc003jhh.2_Missense_Mutation_p.H233L|RNASEN_uc003jhi.2_Missense_Mutation_p.H233L|RNASEN_uc010iui.1_Missense_Mutation_p.H224L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	233	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983390	31983390	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983390C>A	uc003jhl.2	+	3	994	c.606C>A	c.(604-606)ACC>ACA	p.T202T	PDZD2_uc003jhm.2_Silent_p.T202T|PDZD2_uc011cnx.1_Silent_p.T28T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	202					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32355933	32355933	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32355933T>C	uc003jhr.1	-	20	3238	c.3158A>G	c.(3157-3159)GAT>GGT	p.D1053G	ZFR_uc010ium.1_Missense_Mutation_p.D184G|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32387778	32387778	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32387778T>C	uc003jhr.1	-	14	2456	c.2376A>G	c.(2374-2376)GGA>GGG	p.G792G	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	792	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
C5orf23	79614	broad.mit.edu	37	5	32789518	32789518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32789518C>T	uc003jhw.1	+	1	574	c.11C>T	c.(10-12)TCC>TTC	p.S4F		NM_024563	NP_078839			hypothetical protein LOC79614												0																		---	---	---	---
TARS	6897	broad.mit.edu	37	5	33455788	33455788	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33455788A>G	uc003jhy.2	+	6	967	c.672A>G	c.(670-672)GAA>GAG	p.E224E	TARS_uc011cob.1_Silent_p.E212E|TARS_uc010iup.1_Silent_p.E165E|TARS_uc011coc.1_Silent_p.E245E|TARS_uc003jhz.2_Silent_p.E120E|TARS_uc011cod.1_Silent_p.E103E	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	224					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
TARS	6897	broad.mit.edu	37	5	33457508	33457508	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33457508G>T	uc003jhy.2	+	9	1279	c.984G>T	c.(982-984)AGG>AGT	p.R328S	TARS_uc011cob.1_Missense_Mutation_p.R316S|TARS_uc010iup.1_Missense_Mutation_p.R269S|TARS_uc011coc.1_Missense_Mutation_p.R349S|TARS_uc003jhz.2_Missense_Mutation_p.R224S|TARS_uc011cod.1_Missense_Mutation_p.R207S	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	328					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938202	33938202	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938202G>A	uc003jic.1	+	1	1714	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	453	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33944918	33944918	+	Silent	SNP	G	A	A	rs139551409		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33944918G>A	uc003jid.2	-	7	1520	c.1428C>T	c.(1426-1428)TGC>TGT	p.C476C		NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	476	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34814723	34814723	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34814723G>A	uc003jir.2	+	12	1084	c.888G>A	c.(886-888)TCG>TCA	p.S296S	RAI14_uc010iur.2_Silent_p.S267S|RAI14_uc011coj.1_Silent_p.S296S|RAI14_uc010ius.1_Silent_p.S225S|RAI14_uc003jis.2_Silent_p.S299S|RAI14_uc003jit.2_Silent_p.S296S|RAI14_uc011cok.1_Silent_p.S288S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	296						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)																	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35806994	35806994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35806994T>C	uc003jjo.2	+	35	5307	c.5196T>C	c.(5194-5196)AGT>AGC	p.S1732S	SPEF2_uc003jjp.1_Silent_p.S1218S|SPEF2_uc003jjr.2_Silent_p.S787S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35860990	35860990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35860990T>C	uc003jjs.2	+	2	208	c.119T>C	c.(118-120)TTC>TCC	p.F40S	IL7R_uc011coo.1_Missense_Mutation_p.F40S|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	40	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36153144	36153144	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36153144G>T	uc003jkc.1	+	2	462	c.280G>T	c.(280-282)GGT>TGT	p.G94C	SKP2_uc011cou.1_Translation_Start_Site|SKP2_uc003jkd.2_Missense_Mutation_p.G94C|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	94	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36182033	36182033	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36182033A>G	uc003jkc.1	+	10	1357	c.1175A>G	c.(1174-1176)CAT>CGT	p.H392R	SKP2_uc011cou.1_Missense_Mutation_p.H178R|SKP2_uc003jkd.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36961658	36961658	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36961658A>G	uc003jkl.3	+	5	930	c.431A>G	c.(430-432)CAA>CGA	p.Q144R	NIPBL_uc003jkk.3_Missense_Mutation_p.Q144R|NIPBL_uc003jkm.1_Missense_Mutation_p.Q23R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006447	37006447	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006447A>G	uc003jkl.3	+						NIPBL_uc003jkk.3_Intron	NM_133433	NP_597677			delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006671	37006671	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006671C>A	uc003jkl.3	+	17	4567	c.4068C>A	c.(4066-4068)TAC>TAA	p.Y1356*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.Y1356*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020717	37020717	+	Nonsense_Mutation	SNP	C	T	T	rs121918267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020717C>T	uc003jkl.3	+	26	5666	c.5167C>T	c.(5167-5169)CGA>TGA	p.R1723*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1723*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1723					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020965	37020965	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020965A>T	uc003jkl.3	+	27	5813	c.5314A>T	c.(5314-5316)ATT>TTT	p.I1772F	NIPBL_uc003jkk.3_Missense_Mutation_p.I1772F	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1772	HEAT 1.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37187584	37187584	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37187584A>G	uc011cpa.1	-	23	4243	c.4012T>C	c.(4012-4014)TTT>CTT	p.F1338L	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F413L|C5orf42_uc011cpb.1_Missense_Mutation_p.F219L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1338										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37364478	37364478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37364478T>C	uc003jku.1	-	2	284	c.166A>G	c.(166-168)ACC>GCC	p.T56A	NUP155_uc003jkt.1_5'UTR|NUP155_uc010iuz.1_Missense_Mutation_p.T56A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37605339	37605339	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37605339C>A	uc003jkv.2	+	10	1149	c.1091C>A	c.(1090-1092)ACT>AAT	p.T364N	WDR70_uc010iva.1_Missense_Mutation_p.T364N	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	364	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38511961	38511961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38511961A>G	uc010ive.1	-	6	999	c.667T>C	c.(667-669)TAC>CAC	p.Y223H	LIFR_uc003jli.2_Missense_Mutation_p.Y223H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	223	Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)							T	PLAG1	salivary adenoma								---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38947539	38947539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38947539T>C	uc003jlp.2	-	32	4165	c.4141A>G	c.(4141-4143)ATG>GTG	p.M1381V	RICTOR_uc003jlo.2_Missense_Mutation_p.M1405V|RICTOR_uc010ivf.2_Missense_Mutation_p.M1096V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1381					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38952456	38952456	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38952456C>G	uc003jlp.2	-	30	2993	c.2969G>C	c.(2968-2970)TGG>TCG	p.W990S	RICTOR_uc003jlo.2_Missense_Mutation_p.W990S|RICTOR_uc010ivf.2_Missense_Mutation_p.W705S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	990					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002671	39002671	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002671C>T	uc003jlp.2	-	5	382	c.358G>A	c.(358-360)GTG>ATG	p.V120M	RICTOR_uc003jlo.2_Missense_Mutation_p.V120M|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.V104M|RICTOR_uc011cpk.1_Missense_Mutation_p.V120M	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002727	39002727	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002727G>A	uc003jlp.2	-	5	326	c.302C>T	c.(301-303)GCA>GTA	p.A101V	RICTOR_uc003jlo.2_Missense_Mutation_p.A101V|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.A85V|RICTOR_uc011cpk.1_Missense_Mutation_p.A101V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
C9	735	broad.mit.edu	37	5	39285290	39285290	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39285290A>G	uc003jlv.3	-	11						NM_001737	NP_001728			complement component 9 precursor						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
C9	735	broad.mit.edu	37	5	39311418	39311418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39311418C>T	uc003jlv.3	-	7	1021	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39376984	39376984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39376984A>C	uc003jlx.2	-	12	2436	c.1905T>G	c.(1903-1905)GAT>GAG	p.D635E	DAB2_uc003jlw.2_Missense_Mutation_p.D614E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	635					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)													OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39382948	39382948	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39382948G>T	uc003jlx.2	-	10	1644	c.1113C>A	c.(1111-1113)ACC>ACA	p.T371T	DAB2_uc003jlw.2_Silent_p.T350T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	371					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39390565	39390565	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39390565G>A	uc003jlx.2	-	5	974	c.443C>T	c.(442-444)GCC>GTC	p.A148V	DAB2_uc003jlw.2_Missense_Mutation_p.A148V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	148	PID.			A -> T (in Ref. 2; AAA98975).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39392490	39392490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39392490T>C	uc003jlx.2	-	4	838	c.307A>G	c.(307-309)AAA>GAA	p.K103E	DAB2_uc003jlw.2_Missense_Mutation_p.K103E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	103	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40691943	40691943	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40691943A>G	uc003jlz.2	+	3	1522	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	310	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2																		---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40692107	40692107	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40692107A>G	uc003jlz.2	+	3	1686	c.1094A>G	c.(1093-1095)GAC>GGC	p.D365G		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.D365D(1)		lung(2)	2																		---	---	---	---
PRKAA1	5562	broad.mit.edu	37	5	40777625	40777625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40777625C>T	uc003jmc.2	-	2	197	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	PRKAA1_uc003jmb.2_Missense_Mutation_p.R64Q	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	64	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)													---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853695	40853695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40853695G>A	uc003jmg.2	+	3	2336	c.2261G>A	c.(2260-2262)GGC>GAC	p.G754D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	754					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
C7	730	broad.mit.edu	37	5	40955575	40955575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40955575G>A	uc003jmh.2	+	10	1294	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41018434	41018434	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018434A>G	uc003jmj.3	-						HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760			HEAT repeat family member 7B2								binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41842866	41842866	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41842866A>T	uc003jmn.2	-	6	913	c.582T>A	c.(580-582)GGT>GGA	p.G194G		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	194					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850186	41850186	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850248	41850248	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850248C>T	uc003jmn.2	-	5	779	c.448G>A	c.(448-450)GCT>ACT	p.A150T		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	150					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41934226	41934226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41934226T>C	uc003jmq.2	+						FBXO4_uc003jmp.2_Intron|FBXO4_uc003jmr.2_Intron	NM_012176	NP_036308			F-box only protein 4 isoform 1						positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)																---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43527569	43527569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43527569T>C	uc003job.2	-	11	1596	c.1349A>G	c.(1348-1350)TAC>TGC	p.Y450C	PAIP1_uc003joa.2_Missense_Mutation_p.Y371C|PAIP1_uc010ivp.2_Missense_Mutation_p.T340A|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Y338C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	450	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43556088	43556088	+	Silent	SNP	G	A	A	rs144446267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43556088G>A	uc003job.2	-	2	526	c.279C>T	c.(277-279)CCC>CCT	p.P93P	PAIP1_uc003joa.2_Silent_p.P14P|PAIP1_uc010ivp.2_Silent_p.P14P|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_5'UTR	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	93	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43616140	43616140	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43616140C>A	uc003joe.2	+	4	827	c.572C>A	c.(571-573)GCG>GAG	p.A191E	NNT_uc003jof.2_Missense_Mutation_p.A191E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	191	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
NNT	23530	broad.mit.edu	37	5	43624143	43624143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43624143G>A	uc003joe.2	+	6	952	c.697G>A	c.(697-699)GTT>ATT	p.V233I	NNT_uc003jof.2_Missense_Mutation_p.V233I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	233	Mitochondrial matrix.|NAD (By similarity).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809273	44809273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:44809273T>C	uc003joh.2	+	1	247	c.209T>C	c.(208-210)GTG>GCG	p.V70A	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	70					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)																	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262884	45262884	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262884C>T	uc003jok.2	-	8	1837	c.1812G>A	c.(1810-1812)AAG>AAA	p.K604K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	604	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45695850	45695850	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45695850T>A	uc003jok.2	-	1	371	c.346A>T	c.(346-348)AGC>TGC	p.S116C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	116	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50130758	50130758	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50130758T>G	uc003jon.3	+						PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Intron|PARP8_uc003jop.2_Intron	NM_024615	NP_078891			poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52157298	52157298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52157298C>T	uc003jou.2	+	3	252	c.200C>T	c.(199-201)CCG>CTG	p.P67L	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	67	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52221106	52221106	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52221106A>G	uc003jou.2	+	19	2456	c.2404_splice	c.e19-2	p.I802_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.I333_splice	NM_181501	NP_852478			integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52344509	52344509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52344509A>G	uc003joy.2	+	6	682	c.539A>G	c.(538-540)GAT>GGT	p.D180G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.D104G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	180	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52353888	52353888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52353888A>G	uc003joy.2	+	10	1273	c.1130A>G	c.(1129-1131)GAA>GGA	p.E377G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E301G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	377	Extracellular (Potential).|FG-GAP 3.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52367773	52367773	+	Silent	SNP	C	A	A	rs41366951	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52367773C>A	uc003joy.2	+	18	2384	c.2241C>A	c.(2239-2241)CCC>CCA	p.P747P	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.P671P|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	747	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52780953	52780953	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52780953T>A	uc003jpd.2	+	5	875	c.848T>A	c.(847-849)GTC>GAC	p.V283D	FST_uc003jpc.2_Missense_Mutation_p.V283D	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	283	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52781060	52781060	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52781060A>G	uc003jpd.2	+						FST_uc003jpc.2_Intron	NM_013409	NP_037541			follistatin isoform FST344 precursor						hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54603965	54603965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54603965G>A	uc003jpy.3	+	1	390	c.124G>A	c.(124-126)GAC>AAC	p.D42N	SKIV2L2_uc011cqi.1_Missense_Mutation_p.R9K|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	42					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54696086	54696086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54696086G>A	uc003jpy.3	+	21	2584	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.G672D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	773					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168208	55168208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168208T>A	uc003jql.2	+	4	448	c.383T>A	c.(382-384)ATT>AAT	p.I128N	IL31RA_uc003jqk.2_Missense_Mutation_p.I128N|IL31RA_uc011cqj.1_Translation_Start_Site|IL31RA_uc003jqm.2_Missense_Mutation_p.I96N|IL31RA_uc003jqn.2_Missense_Mutation_p.I128N|IL31RA_uc010iwa.1_Missense_Mutation_p.I96N|IL31RA_uc003jqo.2_Translation_Start_Site	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	96	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168291	55168291	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168291T>C	uc003jql.2	+						IL31RA_uc003jqk.2_Intron|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc010iwa.1_Intron|IL31RA_uc003jqo.2_Intron	NM_139017	NP_620586			gp130-like monocyte receptor						anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55237466	55237466	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55237466A>G	uc003jqq.2	-	17	2456	c.2201T>C	c.(2200-2202)ATG>ACG	p.M734T	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.M673T|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.M53T|IL6ST_uc011cqk.1_Missense_Mutation_p.M445T|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	734	Cytoplasmic (Potential).|Ser-rich.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						O		hepatocellular ca								---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55407092	55407092	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55407092T>C	uc003jqu.2	-	10	1635	c.1483A>G	c.(1483-1485)AAG>GAG	p.K495E	ANKRD55_uc003jqt.2_Missense_Mutation_p.K207E	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	494										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)																---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56219147	56219147	+	Silent	SNP	G	T	T	rs141090261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56219147G>T	uc003jrd.1	-	13	1486	c.1461C>A	c.(1459-1461)GCC>GCA	p.A487A	MIER3_uc003jqz.1_Silent_p.A424A|MIER3_uc003jra.1_Silent_p.A486A|MIER3_uc003jrb.1_Silent_p.A311A|MIER3_uc003jrc.1_Silent_p.A492A	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56231255	56231255	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56231255C>T	uc003jrd.1	-	7	620	c.595G>A	c.(595-597)GTA>ATA	p.V199I	MIER3_uc003jqz.1_Missense_Mutation_p.V136I|MIER3_uc003jra.1_Missense_Mutation_p.V199I|MIER3_uc003jrb.1_Missense_Mutation_p.V23I|MIER3_uc003jrc.1_Missense_Mutation_p.V204I	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	199	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
PLK2	10769	broad.mit.edu	37	5	57751521	57751521	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:57751521A>G	uc003jrn.2	-	11	1597	c.1470T>C	c.(1468-1470)GAT>GAC	p.D490D		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	490					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)														---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59943345	59943345	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:59943345T>C	uc003jsh.2	-	3	403	c.330A>G	c.(328-330)TCA>TCG	p.S110S	DEPDC1B_uc011cqm.1_Silent_p.S110S|DEPDC1B_uc011cqn.1_Silent_p.S83S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)																---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60195478	60195478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:60195478T>C	uc003jsm.3	-	8	764	c.694A>G	c.(694-696)AAA>GAA	p.K232E	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.K174E|ERCC8_uc011cqp.1_Missense_Mutation_p.K79E	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	232					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)											Direct_reversal_of_damage|NER					---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61772521	61772521	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61772521G>T	uc003jtc.2	+	9	959	c.769G>T	c.(769-771)GGT>TGT	p.G257C	IPO11_uc011cqr.1_Missense_Mutation_p.G297C|IPO11_uc003jtb.1_Missense_Mutation_p.G257C	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	257						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)														---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256873	63256873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256873C>T	uc011cqt.1	-	1	674	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	225	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256991	63256991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256991C>T	uc011cqt.1	-	1	556	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	186	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
CENPK	64105	broad.mit.edu	37	5	64850721	64850721	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64850721T>C	uc003jts.2	-	3	226	c.14A>G	c.(13-15)GAT>GGT	p.D5G	CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Missense_Mutation_p.D5G	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	5					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)														---	---	---	---
PPWD1	23398	broad.mit.edu	37	5	64867672	64867672	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64867672T>C	uc003jtv.3	+	5	535	c.528T>C	c.(526-528)TTT>TTC	p.F176F	PPWD1_uc011cqv.1_Silent_p.F146F|PPWD1_uc011cqw.1_Silent_p.F20F	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	176					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)														---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64900754	64900754	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64900754G>T	uc003jty.2	-	7	1249	c.1163C>A	c.(1162-1164)CCT>CAT	p.P388H	TRIM23_uc003jtw.2_Missense_Mutation_p.P388H|TRIM23_uc003jtx.2_Missense_Mutation_p.P388H	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	388					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)														---	---	---	---
NLN	57486	broad.mit.edu	37	5	65077166	65077166	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65077166A>G	uc003juf.2	+	6	856	c.740A>G	c.(739-741)CAC>CGC	p.H247R	NLN_uc003jue.2_Missense_Mutation_p.H247R|NLN_uc003jug.2_Missense_Mutation_p.H76R	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	247					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)														---	---	---	---
SFRS12	140890	broad.mit.edu	37	5	65466667	65466667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65466667G>A	uc003juo.2	+	10	1688	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	SFRS12_uc003jun.2_Missense_Mutation_p.R459Q|SFRS12_uc010iwy.2_Missense_Mutation_p.R343Q	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	343	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)														---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66459236	66459236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66459236C>T	uc003jut.1	+	28	3730	c.3662C>T	c.(3661-3663)GCG>GTG	p.A1221V	MAST4_uc003juw.2_Missense_Mutation_p.A1149V|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1413						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67584567	67584567	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67584567C>T	uc003jva.2	+						PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Missense_Mutation_p.H2Y|PIK3R1_uc003jvd.2_5'Flank|PIK3R1_uc003jve.2_5'Flank	NM_181523	NP_852664			phosphoinositide-3-kinase, regulatory subunit 1						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67593317	67593317	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67593317A>G	uc003jva.2	+	16	2623	c.2063A>G	c.(2062-2064)TAC>TGC	p.Y688C	PIK3R1_uc003jvb.2_Missense_Mutation_p.Y688C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y388C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y418C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y367C	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	688	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70782320	70782320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70782320G>A	uc003kbp.1	+	9	1342	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	BDP1_uc003kbn.1_Missense_Mutation_p.R360H|BDP1_uc003kbo.2_Missense_Mutation_p.R360H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	360	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70809109	70809109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70809109G>A	uc003kbp.1	+	19	4608	c.4345G>A	c.(4345-4347)GCT>ACT	p.A1449T	BDP1_uc003kbo.2_Missense_Mutation_p.A1449T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1449					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70818630	70818630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70818630T>C	uc003kbp.1	+	24	5504	c.5241T>C	c.(5239-5241)GAT>GAC	p.D1747D	BDP1_uc003kbo.2_Silent_p.D1747D|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1747					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495096	71495096	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71495096T>C	uc003kbw.3	+	5	6155	c.5914T>C	c.(5914-5916)TAC>CAC	p.Y1972H	MAP1B_uc010iyw.1_Missense_Mutation_p.Y1989H|MAP1B_uc010iyx.1_Missense_Mutation_p.Y1846H|MAP1B_uc010iyy.1_Missense_Mutation_p.Y1846H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1972	MAP1B 6.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)														---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71756528	71756528	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71756528A>T	uc003kce.1	-	2	982	c.796T>A	c.(796-798)TAC>AAC	p.Y266N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	266	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72173107	72173107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72173107G>A	uc003kck.3	+	9	1001	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.C235Y|TNPO1_uc003kch.2_Missense_Mutation_p.C277Y|TNPO1_uc003kci.3_Missense_Mutation_p.C277Y|TNPO1_uc003kcg.3_Missense_Mutation_p.C277Y	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	285					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72183988	72183988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72183988C>T	uc003kck.3	+	13	1534	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	TNPO1_uc011csj.1_Missense_Mutation_p.R413C|TNPO1_uc003kch.2_Missense_Mutation_p.R455C|TNPO1_uc003kci.3_Missense_Mutation_p.R455C|TNPO1_uc003kcg.3_Missense_Mutation_p.R455C	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	463	HEAT 5.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72864245	72864245	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72864245A>T	uc003kcw.1	+	4	407	c.184A>T	c.(184-186)ATT>TTT	p.I62F	UTP15_uc011cso.1_Missense_Mutation_p.I43F|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.I62F|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	62	WD 1.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72873772	72873772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72873772G>T	uc003kcw.1	+	9	1209	c.986G>T	c.(985-987)AGA>ATA	p.R329I	UTP15_uc011cso.1_Missense_Mutation_p.R310I|UTP15_uc011csp.1_Missense_Mutation_p.R139I|UTP15_uc010ize.1_Missense_Mutation_p.R329I	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	329					rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
RGNEF	64283	broad.mit.edu	37	5	73165890	73165890	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73165890T>G	uc011csq.1	+						RGNEF_uc003kcx.2_Intron|RGNEF_uc010izf.2_Intron|RGNEF_uc011csr.1_Intron	NM_001080479	NP_001073948			Rho-guanine nucleotide exchange factor						cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)														---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74014111	74014111	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74014111A>G	uc003kdf.3	+						HEXB_uc003kdd.2_Intron|HEXB_uc010izh.2_Intron|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512			hexosaminidase B preproprotein						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)														---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74646159	74646159	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74646159A>T	uc003kdp.2	+	8	896	c.740A>T	c.(739-741)AAT>ATT	p.N247I	HMGCR_uc011cst.1_Missense_Mutation_p.N267I|HMGCR_uc003kdq.2_Missense_Mutation_p.N247I|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	247					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74650443	74650443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74650443G>A	uc003kdp.2	+	12	1640	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H	HMGCR_uc011cst.1_Missense_Mutation_p.R515H|HMGCR_uc003kdq.2_Missense_Mutation_p.R495H	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	495	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75950035	75950035	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75950035G>T	uc003kek.2	+	19	2411	c.2189G>T	c.(2188-2190)TGG>TTG	p.W730L	IQGAP2_uc010izv.2_Missense_Mutation_p.W283L|IQGAP2_uc011csv.1_Missense_Mutation_p.W226L|IQGAP2_uc003kel.2_Missense_Mutation_p.W226L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	730	IQ 2.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75954306	75954306	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75954306A>G	uc003kek.2	+	21	2565	c.2343A>G	c.(2341-2343)TTA>TTG	p.L781L	IQGAP2_uc010izv.2_Silent_p.L334L|IQGAP2_uc011csv.1_Silent_p.L277L|IQGAP2_uc003kel.2_Silent_p.L277L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	781					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75991429	75991429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75991429G>A	uc003kek.2	+	32	4366	c.4144G>A	c.(4144-4146)GAA>AAA	p.E1382K	IQGAP2_uc011csv.1_Missense_Mutation_p.E878K|IQGAP2_uc003kel.2_Missense_Mutation_p.E878K|IQGAP2_uc010izw.1_Missense_Mutation_p.E83K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1382					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
F2R	2149	broad.mit.edu	37	5	76029054	76029054	+	Missense_Mutation	SNP	C	T	T	rs17849599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76029054C>T	uc003ken.3	+	2	1269	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	335	Extracellular (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)													---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77316593	77316593	+	Missense_Mutation	SNP	T	G	G	rs139968311	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:77316593T>G	uc003kfj.2	-	25	3040	c.2915A>C	c.(2914-2916)AAT>ACT	p.N972T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	972					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										Hermansky-Pudlak_syndrome				---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78324268	78324268	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78324268T>A	uc003kfs.2	-	12	2026	c.2020A>T	c.(2020-2022)ATA>TTA	p.I674L	DMGDH_uc011cte.1_Missense_Mutation_p.I524L|DMGDH_uc011ctf.1_Missense_Mutation_p.I473L|DMGDH_uc011ctg.1_Missense_Mutation_p.I294L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	674					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78375267	78375267	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78375267A>T	uc003kft.2	+	3	265	c.242A>T	c.(241-243)GAC>GTC	p.D81V	BHMT2_uc011cth.1_Missense_Mutation_p.D81V	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	81	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78376559	78376559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78376559G>A	uc003kft.2	+	4	331	c.308G>A	c.(307-309)GGC>GAC	p.G103D	BHMT2_uc011cth.1_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	103	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025398G>A	uc003kgc.2	+	2	882	c.810G>A	c.(808-810)GAG>GAA	p.E270E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025453	79025453	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025453G>A	uc003kgc.2	+	2	937	c.865G>A	c.(865-867)GCC>ACC	p.A289T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	289						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79030209	79030209	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79030209C>A	uc003kgc.2	+	2	5693	c.5621C>A	c.(5620-5622)CCT>CAT	p.P1874H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1874						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79031080	79031080	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79031080G>T	uc003kgc.2	+	2	6564	c.6492G>T	c.(6490-6492)CCG>CCT	p.P2164P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79032520	79032520	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79032520T>C	uc003kgc.2	+	2	8004	c.7932T>C	c.(7930-7932)GAT>GAC	p.D2644D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2644						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79084905	79084905	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79084905A>G	uc003kgc.2	+	10	11739	c.11667A>G	c.(11665-11667)GAA>GAG	p.E3889E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3889	Fibronectin type-III 2.|B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80381689	80381689	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80381689A>G	uc003kha.1	+	8	1230	c.1230A>G	c.(1228-1230)AAA>AAG	p.K410K	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.K238K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80521507	80521507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80521507A>G	uc003kha.1	+	27	3632	c.3632A>G	c.(3631-3633)TAC>TGC	p.Y1211C	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1211	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80559317	80559317	+	Missense_Mutation	SNP	G	A	A	rs148114477		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80559317G>A	uc003khc.3	+	10	1264	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R341H|CKMT2_uc003khd.3_Missense_Mutation_p.R341H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	341	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)													---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80626717	80626717	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80626717C>T	uc003khl.3	-	14	1489	c.1434G>A	c.(1432-1434)TCG>TCA	p.S478S	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	478	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81460363	81460363	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81460363A>G	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81474333	81474333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81474333A>G	uc003khs.2	+	6	809	c.380A>G	c.(379-381)GAC>GGC	p.D127G	ATG10_uc003khr.2_Missense_Mutation_p.D127G|ATG10_uc010jas.2_Missense_Mutation_p.D91G	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN	APG10 autophagy 10-like	127					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81548488	81548488	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81548488A>T	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82400807	82400807	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82400807T>C	uc003kib.2	+	2	197	c.69T>C	c.(67-69)TCT>TCC	p.S23S	XRCC4_uc003kia.1_Silent_p.S23S|XRCC4_uc003kid.2_Silent_p.S23S|XRCC4_uc003kic.2_Silent_p.S23S|XRCC4_uc003kie.2_Silent_p.S23S|XRCC4_uc003kif.1_Silent_p.S23S	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	23					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82491701	82491701	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82491701A>G	uc003kib.2	+	4	556	c.428A>G	c.(427-429)CAC>CGC	p.H143R	XRCC4_uc003kia.1_Missense_Mutation_p.H143R|XRCC4_uc003kid.2_Missense_Mutation_p.H143R|XRCC4_uc003kic.2_Missense_Mutation_p.H143R|XRCC4_uc003kie.2_Missense_Mutation_p.H143R|XRCC4_uc003kif.1_Missense_Mutation_p.H143R	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	143	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82779373	82779373	+	Nonsense_Mutation	SNP	T	A	A	rs113090098		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82779373T>A	uc003kii.3	+	2	392	c.36T>A	c.(34-36)TGT>TGA	p.C12*	VCAN_uc003kij.3_Nonsense_Mutation_p.C12*|VCAN_uc010jau.2_Nonsense_Mutation_p.C12*|VCAN_uc003kik.3_Nonsense_Mutation_p.C12*|VCAN_uc003kih.3_Nonsense_Mutation_p.C12*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	12					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815597	82815597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82815597A>G	uc003kii.3	+	7	1828	c.1472A>G	c.(1471-1473)GAA>GGA	p.E491G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E491G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	491	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86659208	86659208	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86659208T>C	uc003kiw.2	+	11	1615	c.1497T>C	c.(1495-1497)GGT>GGC	p.G499G	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.G322G|RASA1_uc011ctv.1_Silent_p.G332G|RASA1_uc011ctw.1_Silent_p.G333G|RASA1_uc010jaw.2_Silent_p.G321G	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	499	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87494828	87494828	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87494828C>T	uc003kjc.2	-	10	1179	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	TMEM161B_uc011cty.1_Missense_Mutation_p.A341T|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A143T	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87564551	87564551	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87564551A>G	uc003kjc.2	-	1					TMEM161B_uc011cty.1_5'UTR|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_5'UTR|uc003kjd.2_5'Flank|uc003kje.2_5'Flank	NM_153354	NP_699185			transmembrane protein 161B							integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88027692	88027692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:88027692A>G	uc003kjj.2	-	7	1337	c.664T>C	c.(664-666)TCA>CCA	p.S222P	MEF2C_uc003kji.2_Missense_Mutation_p.S222P|MEF2C_uc003kjk.2_Missense_Mutation_p.S222P|MEF2C_uc003kjm.2_Missense_Mutation_p.S220P|MEF2C_uc003kjl.2_Missense_Mutation_p.S240P	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	222					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)											HNSCC(66;0.2)			---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89923354	89923354	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89923354T>C	uc003kju.2	+	7	1095	c.999T>C	c.(997-999)TTT>TTC	p.F333F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	333	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89940532	89940532	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89940532A>G	uc003kju.2	+	15	2840	c.2744A>G	c.(2743-2745)GAT>GGT	p.D915G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	915	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052421	90052421	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90052421G>T	uc003kju.2	+	56	11827	c.11731G>T	c.(11731-11733)GGA>TGA	p.G3911*	GPR98_uc003kjt.2_Nonsense_Mutation_p.G1617*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G1511*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3911	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
NR2F1	7025	broad.mit.edu	37	5	92923678	92923678	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:92923678C>T	uc003kkj.2	+	2	2206	c.519C>T	c.(517-519)CTC>CTT	p.L173L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	173					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)														---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94030751	94030751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94030751G>A	uc003kkr.3	+	21	2991	c.2911G>A	c.(2911-2913)GAT>AAT	p.D971N	ANKRD32_uc003kks.2_Missense_Mutation_p.D335N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	971										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)														---	---	---	---
FAM81B	153643	broad.mit.edu	37	5	94731831	94731831	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94731831C>T	uc003kla.1	+	3	291	c.245C>T	c.(244-246)GCC>GTC	p.A82V	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	82										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)														---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94826671	94826671	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94826671T>C	uc003klb.2	-	37	4142	c.3872A>G	c.(3871-3873)AAC>AGC	p.N1291S		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1291							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94849321	94849321	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94849321T>A	uc003klb.2	-	27	3002	c.2732A>T	c.(2731-2733)TAT>TTT	p.Y911F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94857846	94857846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94857846T>C	uc003klb.2	-	19	2193	c.1923A>G	c.(1921-1923)ATA>ATG	p.I641M	TTC37_uc010jbf.1_Missense_Mutation_p.I593M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	641	TPR 11.						binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94858903	94858903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94858903T>C	uc003klb.2	-						TTC37_uc010jbf.1_Intron	NM_014639	NP_055454			tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4																		---	---	---	---
SPATA9	83890	broad.mit.edu	37	5	94994504	94994504	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94994504A>C	uc003klj.1	-	5	744	c.588T>G	c.(586-588)CCT>CCG	p.P196P	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	196					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)														---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95249552	95249552	+	Missense_Mutation	SNP	C	T	T	rs146144447		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95249552C>T	uc003klr.3	-	4	754	c.404G>A	c.(403-405)CGA>CAA	p.R135Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	135					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)														---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746500	95746500	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95746500C>T	uc003kls.1	-	8	1279	c.1073G>A	c.(1072-1074)GGA>GAA	p.G358E	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	358	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96139196	96139196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96139196T>C	uc003kmm.2	-	2	781	c.434A>G	c.(433-435)TAC>TGC	p.Y145C	ERAP1_uc003kml.2_Missense_Mutation_p.Y145C|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y145C	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	145	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)														---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96251474	96251474	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96251474G>A	uc003kmq.2	+	18	3449	c.2739_splice	c.e18+1	p.E913_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.E913_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.E862_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745			endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98129124	98129124	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98129124C>T	uc003knc.2	+	5	1506	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	327					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)														---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98194704	98194704	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98194704T>C	uc003knf.2	-	33	4688	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	CHD1_uc010jbn.2_Missense_Mutation_p.N240D	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1514					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)													---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101606335	101606335	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101606335G>A	uc003knm.2	-	3	1082	c.795C>T	c.(793-795)CTC>CTT	p.L265L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	265	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101627089	101627089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101627089G>A	uc003knm.2	-	2	864	c.577C>T	c.(577-579)CAA>TAA	p.Q193*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	193	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101774410	101774410	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101774410T>C	uc003knn.2	-	7	1359	c.1187A>G	c.(1186-1188)TAT>TGT	p.Y396C	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y396C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y334C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	396	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102509634	102509634	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102509634A>G	uc003kod.3	+	21	3006	c.2487A>G	c.(2485-2487)GTA>GTG	p.V829V	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.V829V|PPIP5K2_uc003kof.2_Silent_p.V130V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	829					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2																		---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102890429	102890429	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102890429G>C	uc003koi.2	-						NUDT12_uc011cvb.1_Intron	NM_031438	NP_113626			nudix-type motif 12							nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)														---	---	---	---
EFNA5	1946	broad.mit.edu	37	5	106763092	106763092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:106763092C>T	uc003kol.2	-	2	526	c.244G>A	c.(244-246)GTG>ATG	p.V82M	EFNA5_uc010jbr.1_Missense_Mutation_p.V82M	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	82					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108290576	108290576	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108290576T>C	uc003kop.1	+	12	1860	c.1476T>C	c.(1474-1476)TAT>TAC	p.Y492Y	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Silent_p.Y317Y	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	492	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108523190	108523190	+	Missense_Mutation	SNP	A	G	G	rs149517787		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108523190A>G	uc003kop.1	+	20	2767	c.2383A>G	c.(2383-2385)AAG>GAG	p.K795E	FER_uc011cvg.1_Missense_Mutation_p.K620E	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	795	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108698724	108698724	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108698724C>A	uc003kos.3	-	6	1690	c.1470_splice	c.e6-1	p.G490_splice		NM_014819	NP_055634			praja 2, RING-H2 motif containing						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108717314	108717314	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108717314G>T	uc003kos.3	-	3	342	c.122C>A	c.(121-123)GCT>GAT	p.A41D		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	41					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109049437	109049437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109049437T>C	uc003kou.1	+	2	1315	c.352T>C	c.(352-354)TTT>CTT	p.F118L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	118	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110712562	110712562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110712562A>G	uc011cvj.1	+	5	407	c.308A>G	c.(307-309)AAA>AGA	p.K103R	CAMK4_uc003kpf.2_Missense_Mutation_p.K103R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	103	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110730432	110730432	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110730432T>C	uc011cvj.1	+	6	510	c.411T>C	c.(409-411)AGT>AGC	p.S137S	CAMK4_uc003kpf.2_Silent_p.S137S|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	137	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111500719	111500719	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111500719T>C	uc003kpv.1	-	23	2303	c.2029A>G	c.(2029-2031)ATA>GTA	p.I677V	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	677						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111594953	111594953	+	Missense_Mutation	SNP	T	A	A	rs34755755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111594953T>A	uc003kpv.1	-	9	1042	c.768A>T	c.(766-768)CAA>CAT	p.Q256H		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	256	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
APC	324	broad.mit.edu	37	5	112178940	112178940	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112178940A>T	uc010jby.2	+	16	8029	c.7649A>T	c.(7648-7650)GAG>GTG	p.E2550V	APC_uc011cvt.1_Missense_Mutation_p.E2532V|APC_uc003kpz.3_Missense_Mutation_p.E2550V|APC_uc003kpy.3_Missense_Mutation_p.E2550V|APC_uc010jbz.2_Missense_Mutation_p.E2267V|APC_uc010jca.2_Missense_Mutation_p.E1850V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2550	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112200164	112200164	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112200164A>G	uc003kqc.2	+	3	209	c.128A>G	c.(127-129)AAT>AGT	p.N43S	SRP19_uc003kqb.1_Missense_Mutation_p.N43S|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	43					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)														---	---	---	---
MCC	4163	broad.mit.edu	37	5	112406914	112406914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112406914T>C	uc003kqj.3	-	10	1762	c.1232A>G	c.(1231-1233)AAA>AGA	p.K411R	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.K601R|MCC_uc011cwb.1_Missense_Mutation_p.K411R|MCC_uc010jcd.1_Missense_Mutation_p.K373R	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	411					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)														---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822881	113822881	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:113822881A>T	uc003kqo.2	+						KCNN2_uc003kqp.2_Intron|KCNN2_uc010jcg.2_Intron|uc003kqr.1_Intron	NM_021614	NP_067627			small conductance calcium-activated potassium							integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)														---	---	---	---
PGGT1B	5229	broad.mit.edu	37	5	114548274	114548274	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114548274A>G	uc003kqw.3	-	9	980	c.959T>C	c.(958-960)TTG>TCG	p.L320S	PGGT1B_uc003kqx.3_Missense_Mutation_p.L197S|PGGT1B_uc010jch.2_Missense_Mutation_p.L243S	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	320	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)													---	---	---	---
CCDC112	153733	broad.mit.edu	37	5	114610906	114610906	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114610906T>A	uc003kqy.2	-						CCDC112_uc003kqz.2_Intron|CCDC112_uc003kra.2_Intron	NM_152549	NP_689762			coiled-coil domain containing 112 isoform 2												0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)														---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115298718	115298718	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115298718T>A	uc003kro.2	+	1	568	c.404T>A	c.(403-405)GTG>GAG	p.V135E	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	135	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782800	115782800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115782800C>T	uc010jck.2	-	19	3311	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	SEMA6A_uc003krx.3_Missense_Mutation_p.V885M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V247M|SEMA6A_uc003krv.3_Missense_Mutation_p.V295M|SEMA6A_uc003krw.3_Missense_Mutation_p.V345M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V412M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	868	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115824575	115824575	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115824575T>C	uc010jck.2	-						SEMA6A_uc003krx.3_Intron	NM_020796	NP_065847			sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118176600	118176600	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118176600A>C	uc003ksa.2	-	6						NM_173666	NP_775937			DTW domain containing 2												0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)														---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118513830	118513830	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118513830G>A	uc003ksd.2	+	28	7207	c.7026G>A	c.(7024-7026)GAG>GAA	p.E2342E	DMXL1_uc010jcl.1_Silent_p.E2342E	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2342										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970053	118970053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118970053C>T	uc003ksm.2	+	3	820	c.610C>T	c.(610-612)CCA>TCA	p.P204S	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.P204S|FAM170A_uc003kso.2_Missense_Mutation_p.P157S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	204						intracellular	zinc ion binding			skin(1)	1																		---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022012	120022012	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:120022012C>G	uc003ksq.2	+	2	686	c.523C>G	c.(523-525)CCC>GCC	p.P175A	PRR16_uc003ksp.2_Missense_Mutation_p.P152A|PRR16_uc003ksr.2_Missense_Mutation_p.P105A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	175	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)														---	---	---	---
LOX	4015	broad.mit.edu	37	5	121409723	121409723	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121409723A>G	uc003ksu.2	-	4	1395	c.1020T>C	c.(1018-1020)TGT>TGC	p.C340C	LOX_uc010jcp.2_Silent_p.C43C|LOX_uc010jcq.2_Silent_p.C43C|LOX_uc011cwk.1_Silent_p.C110C|LOX_uc010jcr.2_Silent_p.C43C	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		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)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121767674	121767674	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121767674T>A	uc003ksw.1	+	6	1399	c.1193T>A	c.(1192-1194)TTG>TAG	p.L398*	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Nonsense_Mutation_p.L398*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.L445*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.L32*|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.L30*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.L92*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.L338*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	398	ANK 2.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121786643	121786643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121786643C>T	uc003ksw.1	+	10	2307	c.2101C>T	c.(2101-2103)CCG>TCG	p.P701S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P259S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P748S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P335S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P335S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P297S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P335S|SNCAIP_uc003kta.1_Missense_Mutation_p.P333S|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.P395S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P641S|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P217S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	701	ANK 6.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122137823	122137823	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122137823A>G	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122926221	122926221	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122926221A>T	uc003ktm.2	+	9	1678	c.959A>T	c.(958-960)GAT>GTT	p.D320V	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D320V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D320V|CSNK1G3_uc003kto.2_Missense_Mutation_p.D320V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D245V|CSNK1G3_uc011cws.1_Missense_Mutation_p.D208V|CSNK1G3_uc010jda.2_Missense_Mutation_p.D321V	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	320					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123982525	123982525	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123982525C>A	uc003ktq.1	-	4	3675	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktt.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1184						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984764	123984764	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123984764G>A	uc003ktq.1	-	4	1436	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A438V|ZNF608_uc003ktt.1_Missense_Mutation_p.A438V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	438						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124080611	124080611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:124080611A>G	uc003ktq.1	-	1	195	c.72T>C	c.(70-72)GAT>GAC	p.D24D	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.D24D|ZNF608_uc003ktt.1_Silent_p.D24D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	24						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125805413	125805413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125805413A>G	uc003ktu.2	+	3	678	c.248A>G	c.(247-249)AAC>AGC	p.N83S	GRAMD3_uc011cwt.1_Missense_Mutation_p.N98S|GRAMD3_uc011cwv.1_Missense_Mutation_p.N91S|GRAMD3_uc011cww.1_Intron|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_5'UTR|GRAMD3_uc011cwz.1_Missense_Mutation_p.N67S|GRAMD3_uc011cwu.1_Missense_Mutation_p.N67S	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	83										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126206470	126206470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126206470T>C	uc003kuf.2	-	5	1072	c.617A>G	c.(616-618)TAC>TGC	p.Y206C		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	206					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126250640	126250640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126250640T>C	uc003kuf.2	-	3	830	c.375A>G	c.(373-375)AAA>AAG	p.K125K	MARCH3_uc011cxc.1_Silent_p.K125K	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	125					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126783362	126783362	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126783362A>T	uc003kuh.3	+	22	3204	c.2842A>T	c.(2842-2844)ATG>TTG	p.M948L	MEGF10_uc003kui.3_Missense_Mutation_p.M948L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	948	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520070	127520070	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520070T>C	uc003kus.2	+	25	3476	c.3312T>C	c.(3310-3312)TTT>TTC	p.F1104F	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.F1088F	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1104	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520484	127520484	+	Missense_Mutation	SNP	T	C	C	rs116065946	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520484T>C	uc003kus.2	+	26	3603	c.3439T>C	c.(3439-3441)TAC>CAC	p.Y1147H	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.Y1131H	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1147	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610310	+	Missense_Mutation	SNP	A	C	C	rs151053868		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127610310A>C	uc003kuu.2	-	60	8099	c.7660T>G	c.(7660-7662)TTT>GTT	p.F2554V		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127645675	127645675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127645675C>A	uc003kuu.2	-	40	5639	c.5200G>T	c.(5200-5202)GAC>TAC	p.D1734Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1734					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127686696	127686696	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127686696G>A	uc003kuu.2	-	21	3115	c.2676C>T	c.(2674-2676)GAC>GAT	p.D892D	FBN2_uc003kuv.2_Silent_p.D859D	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	892					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127704962	127704962	+	Missense_Mutation	SNP	C	T	T	rs149733159		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127704962C>T	uc003kuu.2	-	16	2600	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	FBN2_uc003kuv.2_Missense_Mutation_p.G688S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	721	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129001264	129001264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129001264G>A	uc003kvb.1	+	16	2480	c.2480G>A	c.(2479-2481)AGC>AAC	p.S827N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129243849	129243849	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129243849T>C	uc003kvd.2	+	2	882	c.882T>C	c.(880-882)ATT>ATC	p.I294I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	294	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)														---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131042175	131042175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131042175A>G	uc003kvs.1	-	9	985	c.843T>C	c.(841-843)TGT>TGC	p.C281C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.C253C|FNIP1_uc010jdm.1_Silent_p.C236C|FNIP1_uc003kvu.2_Silent_p.C281C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	281					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)														---	---	---	---
ACSL6	23305	broad.mit.edu	37	5	131323899	131323899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131323899C>T	uc010jdo.1	-	7	681	c.598G>A	c.(598-600)GTG>ATG	p.V200M	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.V225M|ACSL6_uc003kvy.1_Missense_Mutation_p.V225M|ACSL6_uc003kwb.2_Missense_Mutation_p.V190M|ACSL6_uc003kvz.1_Missense_Mutation_p.V165M|ACSL6_uc003kwa.1_Missense_Mutation_p.V211M|ACSL6_uc010jdn.1_Missense_Mutation_p.V215M|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	200	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131976465	131976465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131976465A>G	uc003kxi.2	+	24	4107	c.3720A>G	c.(3718-3720)GAA>GAG	p.E1240E	RAD50_uc003kxh.2_Silent_p.E1101E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1240					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232641	132232641	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132232641T>C	uc003kyd.2	-	11	2089	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	AFF4_uc011cxk.1_Missense_Mutation_p.T239A|AFF4_uc003kye.1_Missense_Mutation_p.T561A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	561					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132412488	132412488	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132412488A>T	uc003kyj.2	+	7	1087	c.806A>T	c.(805-807)GAG>GTG	p.E269V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	269					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134050861	134050861	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134050861A>T	uc003kzs.2	+						SEC24A_uc011cxu.1_Intron	NM_021982	NP_068817			SEC24 related gene family, member A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134130617	134130617	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134130617G>T	uc003kzw.2	+	14	1872	c.1704G>T	c.(1702-1704)GAG>GAT	p.E568D	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	568	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
CATSPER3	347732	broad.mit.edu	37	5	134303734	134303734	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134303734T>C	uc003lag.2	+	1	121	c.53T>C	c.(52-54)GTT>GCT	p.V18A	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
PITX1	5307	broad.mit.edu	37	5	134364694	134364694	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134364694C>T	uc010jea.2	-	3	1113	c.720G>A	c.(718-720)TCG>TCA	p.S240S	PITX1_uc011cxy.1_Silent_p.S240S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	240	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)														---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134681658	134681658	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134681658C>T	uc003lam.1	-	7	988	c.778G>A	c.(778-780)GCT>ACT	p.A260T	H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A259T|H2AFY_uc003lan.1_Missense_Mutation_p.A257T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A88T|H2AFY_uc003las.1_Missense_Mutation_p.A260T|H2AFY_uc003lat.1_Missense_Mutation_p.A259T	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	260	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TIFAB	497189	broad.mit.edu	37	5	134785592	134785592	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134785592T>C	uc003law.3	-	2	239	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	13											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871139	134871139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134871139C>T	uc003lax.2	-	1	501	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	81					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	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
LOC153328	153328	broad.mit.edu	37	5	135207269	135207269	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135207269G>A	uc003laz.1	+	5	713	c.541G>A	c.(541-543)GCC>ACC	p.A181T	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	181	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692301	135692301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135692301A>G	uc003lbn.1	-	1	775	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TRPC7_uc010jef.1_Missense_Mutation_p.F250L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.F250L|TRPC7_uc010jei.1_Missense_Mutation_p.F250L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	259	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NME5	8382	broad.mit.edu	37	5	137454523	137454523	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137454523T>C	uc003lce.2	-	5	617	c.539A>G	c.(538-540)AAA>AGA	p.K180R	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	180					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492899	137492899	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492899A>G	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Nonstop_Mutation_p.*658R|BRD8_uc003lcg.2_Nonstop_Mutation_p.*952R|BRD8_uc003lci.2_Nonstop_Mutation_p.*867R|BRD8_uc003lch.2_Nonstop_Mutation_p.*758R|BRD8_uc011cym.1_Nonstop_Mutation_p.*863R|BRD8_uc010jer.1_Nonstop_Mutation_p.*833R|BRD8_uc011cyn.1_Nonstop_Mutation_p.*838R	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492939	137492939	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492939T>C	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Silent_p.G644G|BRD8_uc003lcg.2_Silent_p.G938G|BRD8_uc003lci.2_Silent_p.G853G|BRD8_uc003lch.2_Silent_p.G744G|BRD8_uc011cym.1_Silent_p.G849G|BRD8_uc010jer.1_Silent_p.G819G|BRD8_uc011cyn.1_Silent_p.G824G	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137500695	137500695	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137500695A>G	uc003lcf.1	-	12	1494	c.1439T>C	c.(1438-1440)GTC>GCC	p.V480A	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.V259A|BRD8_uc003lcg.2_Missense_Mutation_p.V553A|BRD8_uc003lci.2_Missense_Mutation_p.V483A|BRD8_uc003lch.2_Missense_Mutation_p.V374A|BRD8_uc011cym.1_Missense_Mutation_p.V464A|BRD8_uc010jer.1_Missense_Mutation_p.V449A|BRD8_uc011cyn.1_Missense_Mutation_p.V439A	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	480					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
GFRA3	2676	broad.mit.edu	37	5	137593531	137593531	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137593531G>A	uc003lcn.2	-	4	722	c.582C>T	c.(580-582)CAC>CAT	p.H194H	GFRA3_uc003lco.2_Silent_p.H163H	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	194					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137665314	137665314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137665314C>T	uc003lcp.1	-	3	488	c.217G>A	c.(217-219)GAT>AAT	p.D73N	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.D73N|CDC25C_uc011cyp.1_Missense_Mutation_p.D90N|CDC25C_uc003lcs.1_Missense_Mutation_p.D151N|CDC25C_uc010jet.1_Missense_Mutation_p.D73N|CDC25C_uc003lct.1_Missense_Mutation_p.D73N|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	73					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137677511	137677511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137677511A>G	uc003lcv.2	+	3	562	c.92A>G	c.(91-93)CAT>CGT	p.H31R	FAM53C_uc003lcw.2_Missense_Mutation_p.H31R|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	31										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722193	137722193	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137722193A>G	uc003lcy.1	+	7	1463	c.1263A>G	c.(1261-1263)GCA>GCG	p.A421A	KDM3B_uc010jew.1_Silent_p.A77A|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137844390	137844390	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137844390G>A	uc003ldc.3	-	10	1364	c.1199C>T	c.(1198-1200)TCT>TTT	p.S400F	ETF1_uc011cyv.1_Missense_Mutation_p.S386F|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S367F	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	400					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SIL1	64374	broad.mit.edu	37	5	138282992	138282992	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138282992T>C	uc003ldm.2	-	9	1217	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	SIL1_uc003ldn.2_Silent_p.T399T|SIL1_uc003ldo.2_Silent_p.T400T|SIL1_uc003ldp.2_Silent_p.T400T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	400					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											Marinesco-Sj_gren_syndrome				---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138658651	138658651	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138658651A>T	uc003ldu.2	+	15	2570	c.2143A>T	c.(2143-2145)AAA>TAA	p.K715*	MATR3_uc010jfb.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K377*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K715*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K392*|MATR3_uc011czb.1_Nonsense_Mutation_p.K427*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K715*|MATR3_uc003lea.2_Nonsense_Mutation_p.K715*|MATR3_uc003leb.2_Nonsense_Mutation_p.K377*|MATR3_uc003lec.2_Nonsense_Mutation_p.K392*	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	715	Nuclear localization signal (Potential).					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138718265	138718265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138718265C>T	uc003leh.2	-	2	163	c.66G>A	c.(64-66)CCG>CCA	p.P22P	SLC23A1_uc003leg.2_Silent_p.P22P	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	22					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)													---	---	---	---
MGC29506	51237	broad.mit.edu	37	5	138723491	138723491	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138723491C>A	uc003lei.2	-	4	593	c.533G>T	c.(532-534)TGC>TTC	p.C178F	MGC29506_uc010jfd.2_Missense_Mutation_p.C101F|MGC29506_uc010jfe.2_Missense_Mutation_p.C148F|MGC29506_uc003lej.2_Missense_Mutation_p.C119F	NM_016459	NP_057543	Q8WU39	PERP1_HUMAN	proapoptotic caspase adapter protein precursor	178				C->S: Does not affect activity.	apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139231249	139231249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139231249G>A	uc003lex.1	-	9	1937	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V	NRG2_uc003lev.1_Missense_Mutation_p.A579V|NRG2_uc003lew.1_Missense_Mutation_p.A573V|NRG2_uc003ley.1_Missense_Mutation_p.A565V	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	571	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC4A9	83697	broad.mit.edu	37	5	139742516	139742516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139742516G>A	uc003lfm.2	+	7	934	c.899G>A	c.(898-900)CGT>CAT	p.R300H	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276H|SLC4A9_uc011czg.1_Missense_Mutation_p.R276H|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	300	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884538	139884538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139884538A>G	uc003lfs.1	+	16	3261	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	ANKHD1_uc003lfq.1_Missense_Mutation_p.D1065G|ANKHD1_uc003lfr.2_Missense_Mutation_p.D1046G|ANKHD1_uc003lft.1_Missense_Mutation_p.D257G|ANKHD1_uc003lfu.1_Missense_Mutation_p.D526G|ANKHD1_uc003lfv.1_Missense_Mutation_p.D123G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1046						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928648	139928648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139928648G>T	uc003lfs.1	+	35	7961	c.7837G>T	c.(7837-7839)GGA>TGA	p.G2613*	ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.G1369*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.G758*|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.E87D	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2613						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SRA1	10011	broad.mit.edu	37	5	139930498	139930498	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139930498T>C	uc003lga.2	-						SRA1_uc003lfz.2_Intron|SRA1_uc010jfm.2_Intron	NM_001035235	NP_001030312			steroid receptor RNA activator 1						apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
APBB3	10307	broad.mit.edu	37	5	139941253	139941253	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139941253G>A	uc003lgd.1	-	7	1040	c.681C>T	c.(679-681)AGC>AGT	p.S227S	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Silent_p.S220S|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'UTR	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	222	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139947206	139947206	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139947206C>A	uc003lgg.1	+	3	1180	c.452C>A	c.(451-453)GCT>GAT	p.A151D	SLC35A4_uc003lgh.1_Missense_Mutation_p.A151D	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	151	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IK	3550	broad.mit.edu	37	5	140038640	140038640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140038640G>A	uc003lgq.2	+	12	1177	c.1067G>A	c.(1066-1068)CGA>CAA	p.R356Q		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	356	8.|17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
WDR55	54853	broad.mit.edu	37	5	140048054	140048054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140048054G>A	uc003lgr.3	+	3	461	c.347G>A	c.(346-348)GGC>GAC	p.G116D	WDR55_uc011czl.1_5'Flank	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	116	WD 2.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176593	140176593	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176593G>A	uc003lhd.2	+	1	2150	c.2044G>A	c.(2044-2046)GCG>ACG	p.A682T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A682T|PCDHA2_uc011czy.1_Missense_Mutation_p.A682T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176640	140176640	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176640C>T	uc003lhd.2	+	1	2197	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N697N|PCDHA2_uc011czy.1_Silent_p.N697N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182255	140182255	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140182255C>A	uc003lhf.2	+	1	1473	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S491S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	491	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202809	140202809	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140202809G>A	uc003lhl.2	+	1	1449	c.1449G>A	c.(1447-1449)GCG>GCA	p.A483A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A483A|PCDHA5_uc003lhj.1_Silent_p.A483A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203209	140203209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140203209G>A	uc003lhl.2	+	1	1849	c.1849G>A	c.(1849-1851)GCG>ACG	p.A617T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A617T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A617T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207924	140207924	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140207924T>C	uc003lho.2	+	1	275	c.248T>C	c.(247-249)ATT>ACT	p.I83T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.I83T|PCDHA6_uc011dab.1_Missense_Mutation_p.I83T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214222	140214222	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140214222T>C	uc003lhq.2	+	1	254	c.254T>C	c.(253-255)TTT>TCT	p.F85S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F85S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	85	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222879	140222879	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222879C>T	uc003lhs.2	+	1	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A658V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230182	140230182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140230182T>C	uc003lhu.2	+	1	2826	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I701T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140248964	140248964	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140248964C>T	uc003lia.2	+	1	1134	c.276C>T	c.(274-276)CGC>CGT	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R92R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249904	140249904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140249904T>C	uc003lia.2	+	1	2074	c.1216T>C	c.(1216-1218)TTG>CTG	p.L406L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L406L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250499	140250499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250499C>T	uc003lia.2	+	1	2669	c.1811C>T	c.(1810-1812)GCG>GTG	p.A604V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A604V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250882	140250882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250882G>A	uc003lia.2	+	1	3052	c.2194G>A	c.(2194-2196)GCG>ACG	p.A732T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256548	140256548	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140256548G>A	uc003lic.2	+	1	1618	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R497R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263955	140263955	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263955T>C	uc003lif.2	+	1	2102	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.I701T|PCDHA13_uc003lid.2_Missense_Mutation_p.I701T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140431551	140431551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140431551G>A	uc003lik.1	+	1	573	c.496G>A	c.(496-498)GGT>AGT	p.G166S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	166	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140433299	140433299	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140433299C>A	uc003lik.1	+	1	2321	c.2244C>A	c.(2242-2244)TCC>TCA	p.S748S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	748	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481490	140481490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140481490T>C	uc003lio.2	+	1	1257	c.1257T>C	c.(1255-1257)ATT>ATC	p.I419I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	419	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140501585	140501585	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140501585A>G	uc003lip.1	+	1	5	c.5A>G	c.(4-6)AAG>AGG	p.K2R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	2					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515442C>T	uc003liq.2	+	1	643	c.426C>T	c.(424-426)ATC>ATT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	142	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515648	140515648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515648C>T	uc003liq.2	+	1	849	c.632C>T	c.(631-633)ACA>ATA	p.T211I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	211	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516313	140516313	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516313G>A	uc003liq.2	+	1	1514	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	433	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516700	140516700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516700T>C	uc003liq.2	+	1	1901	c.1684T>C	c.(1684-1686)TAT>CAT	p.Y562H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531928	140531928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140531928C>T	uc003lir.2	+	1	2090	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PCDHB6_uc011dah.1_Missense_Mutation_p.S561L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553330	140553330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140553330C>T	uc003lit.2	+	1	1088	c.914C>T	c.(913-915)GCG>GTG	p.A305V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	305	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554319	140554319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554319G>A	uc003lit.2	+	1	2077	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554538	140554538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554538G>A	uc003lit.2	+	1	2296	c.2122G>A	c.(2122-2124)GCG>ACG	p.A708T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559013	140559013	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559013C>T	uc011dai.1	+	1	1584	c.1398C>T	c.(1396-1398)AGC>AGT	p.S466S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	466	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559044	140559044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559044A>G	uc011dai.1	+	1	1615	c.1429A>G	c.(1429-1431)ACA>GCA	p.T477A	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559515	140559515	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559515C>T	uc011dai.1	+	1	2086	c.1900C>T	c.(1900-1902)CGC>TGC	p.R634C	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564217	140564217	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564217G>A	uc003liv.2	+	1	3238	c.2083G>A	c.(2083-2085)GCC>ACC	p.A695T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	695	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB9	56127	broad.mit.edu	37	5	140568905	140568905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140568905C>T	uc003liw.1	+	3	2014	c.2014C>T	c.(2014-2016)CCT>TCT	p.P672S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588478	140588478	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140588478C>T	uc003liz.2	+	1					PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755			protocadherin beta 12 precursor						homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589857	140589857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140589857G>A	uc003liz.2	+	1	1567	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB12_uc011dak.1_Missense_Mutation_p.V123I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140603685	140603685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140603685A>G	uc003ljb.2	+	1	608	c.608A>G	c.(607-609)GAA>GGA	p.E203G	PCDHB14_uc011dal.1_Missense_Mutation_p.E50G	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	203	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	A	A	rs142658705		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626180	140626180	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140626180C>T	uc003lje.2	+	1	1034	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683071	140683071	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683071G>A	uc003ljf.2	-	1	542	c.362C>T	c.(361-363)GCA>GTA	p.A121V		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	121	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683297	140683297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683297C>T	uc003ljf.2	-	1	316	c.136G>A	c.(136-138)GGC>AGC	p.G46S		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	46	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
TAF7	6879	broad.mit.edu	37	5	140699608	140699608	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140699608T>A	uc003ljg.2	-	1	744	c.4A>T	c.(4-6)AGT>TGT	p.S2C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	2					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140719387	140719387	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140719387A>G	uc003ljk.1	+	1	1034	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.K283K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720359	140720359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720359C>T	uc003ljk.1	+	1	2006	c.1821C>T	c.(1819-1821)CAC>CAT	p.H607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720427	140720427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720427G>A	uc003ljk.1	+	1	2074	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R630Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724148	140724148	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724148A>C	uc003ljm.1	+	1	548	c.548A>C	c.(547-549)AAT>ACT	p.N183T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.N183T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	183	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724815	140724815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724815G>A	uc003ljm.1	+	1	1215	c.1215G>A	c.(1213-1215)GTG>GTA	p.V405V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.V165V|PCDHGA3_uc011dap.1_Silent_p.V405V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	405	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725277	140725277	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140725277G>A	uc003ljm.1	+	1	1677	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A319A|PCDHGA3_uc011dap.1_Silent_p.A559A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730650	140730650	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140730650A>G	uc003ljo.1	+	1	823	c.823A>G	c.(823-825)ACC>GCC	p.T275A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T275A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	275	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735028	140735028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140735028G>A	uc003ljq.1	+	1	261	c.261G>A	c.(259-261)GCG>GCA	p.A87A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A87A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	87	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741611	140741611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140741611G>A	uc003ljs.1	+	1	1909	c.1909G>A	c.(1909-1911)GCG>ACG	p.A637T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A637T|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745654	140745654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140745654A>G	uc003lju.1	+	1	1757	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Y586C	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751474	140751474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751474G>A	uc003ljw.1	+	1	1513	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V505M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	505	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763143	140763143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140763143C>T	uc003lka.1	+	1	677	c.677C>T	c.(676-678)GCC>GTC	p.A226V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A226V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	226	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140764596	140764596	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140764596A>G	uc003lka.1	+	1	2130	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.V710V|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769090	140769090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140769090C>T	uc003lkc.1	+	1	1639	c.1639C>T	c.(1639-1641)CGC>TGC	p.R547C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R547C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	547	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773828	140773828	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773828A>G	uc003lkd.1	+	1	2346	c.1448A>G	c.(1447-1449)GAG>GGG	p.E483G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.E483G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774055	140774055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140774055G>A	uc003lkd.1	+	1	2573	c.1675G>A	c.(1675-1677)GCG>ACG	p.A559T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A559T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784150	140784150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140784150G>A	uc003lkh.1	+	1	1631	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S544N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	544	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799290	140799290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140799290C>T	uc003lkn.1	+	1	2009	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.R622*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140800891	140800891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140800891C>T	uc003lkq.1	+	1	355	c.97C>T	c.(97-99)CGA>TGA	p.R33*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.R33*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.R33*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	33	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812139	140812139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812139T>C	uc003lkt.1	+	1	1982	c.1813T>C	c.(1813-1815)TCC>CCC	p.S605P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S605P	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812199	140812199	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812199G>A	uc003lkt.1	+	1	2042	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E625K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857037	140857037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140857037G>A	uc003lkv.1	+	1	1469	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D452N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	452	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140866146	140866146	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140866146G>A	uc003lky.1	+	1	1406	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R469H|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243630	141243630	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141243630T>C	uc003llq.2	-	3	2383	c.2266A>G	c.(2266-2268)ATT>GTT	p.I756V	PCDH1_uc003llp.2_Missense_Mutation_p.I756V|PCDH1_uc011dbf.1_Missense_Mutation_p.I734V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	756	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244610	141244610	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141244610G>A	uc003llq.2	-	3	1403	c.1286C>T	c.(1285-1287)GCT>GTT	p.A429V	PCDH1_uc003llp.2_Missense_Mutation_p.A429V|PCDH1_uc011dbf.1_Missense_Mutation_p.A407V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	429	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336597	141336597	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141336597C>T	uc003llx.2	-	1	2031	c.820G>A	c.(820-822)GGC>AGC	p.G274S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	274	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RNF14	9604	broad.mit.edu	37	5	141354437	141354437	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141354437C>A	uc003lly.2	+	3	262	c.223C>A	c.(223-225)CTG>ATG	p.L75M	RNF14_uc003llz.2_Missense_Mutation_p.L75M|RNF14_uc003lma.2_Missense_Mutation_p.L75M|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Missense_Mutation_p.L75M|RNF14_uc011dbg.1_Missense_Mutation_p.L75M|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.L75M	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	75	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---
FGF1	2246	broad.mit.edu	37	5	141993704	141993704	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141993704T>C	uc003lmm.2	-	2					FGF1_uc011dbi.1_5'UTR|FGF1_uc003lmn.3_5'UTR|FGF1_uc003lmp.3_5'UTR|FGF1_uc003lmq.2_5'UTR|FGF1_uc010jgj.2_5'UTR|FGF1_uc003lmr.2_5'UTR|FGF1_uc003lms.3_5'UTR	NM_001144892	NP_001138364			fibroblast growth factor 1 (acidic) isoform 1						angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)													---	---	---	---
YIPF5	81555	broad.mit.edu	37	5	143545034	143545034	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:143545034T>C	uc003lnk.3	-	3	686	c.245A>G	c.(244-246)TAT>TGT	p.Y82C	YIPF5_uc003lnl.3_Missense_Mutation_p.Y82C|YIPF5_uc010jgl.2_Missense_Mutation_p.Y28C	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	82	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)															---	---	---	---
PLAC8L1	153770	broad.mit.edu	37	5	145477795	145477795	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145477795C>T	uc003lnv.2	-	2	252	c.180G>A	c.(178-180)ACG>ACA	p.T60T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	60											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145719218	145719218	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145719218C>A	uc003loa.2	+	2	317	c.228C>A	c.(226-228)CCC>CCA	p.P76P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	76					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145838891	145838891	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145838891A>G	uc003lob.2	+	4	923	c.883A>G	c.(883-885)ACA>GCA	p.T295A	TCERG1_uc003loc.2_Missense_Mutation_p.T295A|TCERG1_uc011dbt.1_Missense_Mutation_p.T295A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	295	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145888807	145888807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145888807A>G	uc003lob.2	+	21	3134	c.3094A>G	c.(3094-3096)AGA>GGA	p.R1032G	TCERG1_uc003loc.2_Missense_Mutation_p.R1011G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1032	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
STK32A	202374	broad.mit.edu	37	5	146722576	146722576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146722576A>G	uc010jgn.1	+	6	722	c.442A>G	c.(442-444)AAG>GAG	p.K148E	STK32A_uc003lol.3_Missense_Mutation_p.K148E|STK32A_uc003lom.2_Missense_Mutation_p.K148E|STK32A_uc011dbw.1_Missense_Mutation_p.K148E	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	148	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146780384	146780384	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146780384C>T	uc003lon.1	-	10	1091	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	DPYSL3_uc003loo.2_Silent_p.Q441Q	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	327					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146788299	146788299	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146788299G>T	uc003lon.1	-	7	792	c.682C>A	c.(682-684)CCA>ACA	p.P228T	DPYSL3_uc003loo.2_Missense_Mutation_p.P342T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	228					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795370	146795370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146795370G>A	uc003lon.1	-	4	490	c.380C>T	c.(379-381)GCT>GTT	p.A127V	DPYSL3_uc003loo.2_Missense_Mutation_p.A241V	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SPINK1	6690	broad.mit.edu	37	5	147207595	147207595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147207595A>G	uc003los.2	-	3	304	c.184T>C	c.(184-186)TTT>CTT	p.F62L		NM_003122	NP_003113	P00995	ISK1_HUMAN	serine protease inhibitor, Kazal type 1	62	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											Hereditary_Pancreatitis				---	---	---	---
SPINK14	408187	broad.mit.edu	37	5	147553843	147553843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147553843C>T	uc003loz.1	+	3	158	c.158C>T	c.(157-159)ACG>ATG	p.T53M		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	53	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0																		---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147796770	147796770	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147796770A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147813094	147813094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147813094A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206582	148206582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148206582G>A	uc003lpr.1	+	1	427	c.188G>A	c.(187-189)CGT>CAT	p.R63H	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	63	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207139	148207139	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148207139G>A	uc003lpr.1	+	1	984	c.745G>A	c.(745-747)GAG>AAG	p.E249K	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	249	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148420185	148420185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148420185T>C	uc003lpu.2	-	7	939	c.787A>G	c.(787-789)ACA>GCA	p.T263A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.T256A|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.T148A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	263							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148626049	148626049	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148626049C>A	uc003lpy.2	+	17	1742	c.1491C>A	c.(1489-1491)CCC>CCA	p.P497P	ABLIM3_uc003lpz.1_Silent_p.P497P|ABLIM3_uc003lqa.1_Silent_p.P394P|ABLIM3_uc003lqb.2_Silent_p.P386P|ABLIM3_uc003lqc.1_Silent_p.P464P|ABLIM3_uc003lqd.1_Silent_p.P402P|ABLIM3_uc003lqf.2_Silent_p.P386P|ABLIM3_uc003lqe.1_Silent_p.P386P	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	497					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148687000	148687000	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148687000T>A	uc003lqh.2	+	7	702	c.571T>A	c.(571-573)TCC>ACC	p.S191T	AFAP1L1_uc003lqg.3_Missense_Mutation_p.S191T|AFAP1L1_uc010jgy.2_Missense_Mutation_p.S191T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	191							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148754010	148754010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148754010C>T	uc003lqo.2	-	3	515	c.465G>A	c.(463-465)CCG>CCA	p.P155P		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	155					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148756561	148756561	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148756561G>T	uc003lqo.2	-	2	99	c.49C>A	c.(49-51)CTG>ATG	p.L17M		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	17					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149001301	149001301	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149001301A>T	uc003lra.1	+	9	1075	c.1011A>T	c.(1009-1011)CAA>CAT	p.Q337H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	337	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212461	149212461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149212461C>T	uc003lrc.2	+	5	867	c.825C>T	c.(823-825)CCC>CCT	p.P275P	PPARGC1B_uc003lrb.1_Silent_p.P275P|PPARGC1B_uc003lrd.2_Silent_p.P236P|PPARGC1B_uc003lrf.2_Silent_p.P254P|PPARGC1B_uc003lre.1_Silent_p.P254P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	275					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149361002	149361002	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149361002G>A	uc003lrh.2	+	3	2114	c.1846G>A	c.(1846-1848)GCA>ACA	p.A616T		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	616	STAS.|Extracellular (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149456864	149456864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149456864G>A	uc003lrl.2	-	5	1059	c.864C>T	c.(862-864)TCC>TCT	p.S288S	CSF1R_uc011dcd.1_Silent_p.S140S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S288S|CSF1R_uc011dce.1_Silent_p.S288S|CSF1R_uc011dcf.1_Silent_p.S288S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	288	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)													---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149583563	149583563	+	Missense_Mutation	SNP	G	A	A	rs139016893		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149583563G>A	uc003lrr.2	+	10	1665	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	432	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)													---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677666	149677666	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149677666A>C	uc003lrv.2	-	2	1410	c.821T>G	c.(820-822)GTG>GGG	p.V274G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	274						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755412	149755412	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149755412C>T	uc003lry.2	+	12	1941	c.1833C>T	c.(1831-1833)AGC>AGT	p.S611S	TCOF1_uc003lrw.2_Silent_p.S611S|TCOF1_uc011dch.1_Silent_p.S611S|TCOF1_uc003lrz.2_Silent_p.S611S|TCOF1_uc003lrx.2_Silent_p.S534S|TCOF1_uc003lsa.2_Silent_p.S534S|TCOF1_uc011dci.1_Silent_p.S100S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	611					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150027979	150027979	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150027979C>A	uc003lsn.2	+	3	1248	c.874C>A	c.(874-876)CGA>AGA	p.R292R	SYNPO_uc003lso.3_Silent_p.R48R|SYNPO_uc003lsp.2_Silent_p.R48R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	292					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150138455	150138455	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150138455C>T	uc003lsv.2	-	1	203	c.101G>A	c.(100-102)AGC>AAC	p.S34N	DCTN4_uc003lsu.2_5'Flank|DCTN4_uc010jhi.2_Missense_Mutation_p.S34N|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_5'Flank	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	34						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275987	150275987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150275987C>T	uc003lsy.1	-	6	1081	c.814G>A	c.(814-816)GTT>ATT	p.V272I	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	272	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A3	285641	broad.mit.edu	37	5	150678148	150678148	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150678148T>C	uc003ltw.2	-						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_5'Flank|SLC36A3_uc003ltx.2_Intron	NM_181774	NP_861439			solute carrier family 36, member 3 isoform 2							integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150704980	150704980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150704980G>A	uc003lty.2	-	8	1007	c.877C>T	c.(877-879)CGC>TGC	p.R293C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.R95C|SLC36A2_uc010jhv.2_Missense_Mutation_p.R293C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	293	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A1	206358	broad.mit.edu	37	5	150838460	150838460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150838460G>A	uc003luc.2	+	2	324	c.107G>A	c.(106-108)GGC>GAC	p.G36D	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.G36D|SLC36A1_uc010jhw.1_Missense_Mutation_p.G36D	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	36	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)													---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150887158	150887158	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150887158G>A	uc003lue.3	-	22	12087	c.12074C>T	c.(12073-12075)GCG>GTG	p.A4025V	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A632V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4025	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150901461	150901461	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150901461T>C	uc003lue.3	-	18	10706	c.10693A>G	c.(10693-10695)ACC>GCC	p.T3565A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T258A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3565	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922517	150922517	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150922517T>C	uc003lue.3	-	9	8184	c.8171A>G	c.(8170-8172)TAC>TGC	p.Y2724C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2724	Cadherin 24.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945761	150945761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150945761A>G	uc003lue.3	-	1	2745	c.2732T>C	c.(2731-2733)CTG>CCG	p.L911P	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L911P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	911	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151208616	151208616	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151208616T>C	uc003lut.2	-	8	1212	c.925A>G	c.(925-927)AAA>GAA	p.K309E	GLRA1_uc003lur.2_Missense_Mutation_p.K309E|GLRA1_uc003lus.2_Missense_Mutation_p.K226E	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	309					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153174264	153174264	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153174264G>A	uc003lva.3	+						GRIA1_uc003luy.3_Missense_Mutation_p.G785D|GRIA1_uc003luz.3_Intron|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.G705D|GRIA1_uc011dcx.1_Missense_Mutation_p.G716D|GRIA1_uc011dcy.1_Intron|GRIA1_uc011dcz.1_Missense_Mutation_p.G795D	NM_001114183	NP_001107655			glutamate receptor, ionotropic, AMPA 1 isoform						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153372657	153372657	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153372657G>C	uc003lvb.2	-	14	1985	c.1397C>G	c.(1396-1398)GCC>GGC	p.A466G	FAM114A2_uc003lvc.2_Missense_Mutation_p.A466G|FAM114A2_uc003lvd.2_Missense_Mutation_p.A466G|FAM114A2_uc003lve.2_Missense_Mutation_p.A282G|FAM114A2_uc011dda.1_Missense_Mutation_p.A396G	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	466							purine nucleotide binding				0																		---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153792469	153792469	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153792469G>A	uc003lvh.2	+	10	1539	c.1407G>A	c.(1405-1407)GGG>GGA	p.G469G	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.G310G|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.G140G	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	469	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
SAP30L	79685	broad.mit.edu	37	5	153830686	153830686	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153830686T>A	uc003lvk.2	+	2	885	c.237T>A	c.(235-237)AAT>AAA	p.N79K	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154169932	154169932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154169932C>T	uc003lvp.2	+	2	913	c.484C>T	c.(484-486)CGC>TGC	p.R162C	LARP1_uc003lvo.2_Missense_Mutation_p.R85C|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	162							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154174725	154174725	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154174725C>A	uc003lvp.2	+						LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_Intron	NM_033551	NP_291029			la related protein isoform 2								protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154185462	154185462	+	Silent	SNP	G	A	A	rs138080657		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154185462G>A	uc003lvp.2	+	15	2997	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	LARP1_uc003lvo.2_Silent_p.T779T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	856							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154287325	154287325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154287325G>A	uc003lvx.3	-	16	2304	c.2221C>T	c.(2221-2223)CCC>TCC	p.P741S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P740S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	741	Poly-Lys.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154393675	154393675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154393675G>A	uc010jih.1	+	1	416	c.256G>A	c.(256-258)GCC>ACC	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514181	156514181	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156514181A>G	uc003lwk.1	-	7	982	c.838T>C	c.(838-840)TAT>CAT	p.Y280H		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	280	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533902	156533902	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156533902C>T	uc003lwk.1	-	2	274	c.130G>A	c.(130-132)GCC>ACC	p.A44T	HAVCR2_uc003lwl.2_Missense_Mutation_p.A44T	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	44	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589648	156589648	+	Missense_Mutation	SNP	G	T	T	rs17852327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156589648G>T	uc003lwn.2	-	2	1728	c.1628C>A	c.(1627-1629)GCC>GAC	p.A543D		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	543						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590270	156590270	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156590270T>C	uc003lwn.2	-	2	1106	c.1006A>G	c.(1006-1008)ATA>GTA	p.I336V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	336						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
ITK	3702	broad.mit.edu	37	5	156608049	156608049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156608049A>G	uc003lwo.1	+	1	143	c.61A>G	c.(61-63)ACT>GCT	p.T21A		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)					T	SYK	peripheral T-cell lymphoma								---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156895765	156895765	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156895765G>T	uc003lwx.3	+	4	672	c.556G>T	c.(556-558)GCA>TCA	p.A186S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A167S|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	186	Extracellular (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156920054	156920054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156920054C>T	uc003lwz.2	-	16	1899	c.1835G>A	c.(1834-1836)CGA>CAA	p.R612Q	ADAM19_uc003lww.1_Missense_Mutation_p.R345Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R211Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R543Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	612	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157073639	157073639	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:157073639A>C	uc003lxb.1	-						SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Intron	NM_178424	NP_848511			SRY (sex determining region Y)-box 30 isoform a						regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158596721	158596721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158596721A>G	uc003lxp.2	-	7	1217	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	RNF145_uc011ddy.1_Missense_Mutation_p.Y316H|RNF145_uc003lxo.1_Missense_Mutation_p.Y330H|RNF145_uc011ddz.1_Missense_Mutation_p.Y319H|RNF145_uc010jiq.1_Missense_Mutation_p.Y332H|RNF145_uc011dea.1_Missense_Mutation_p.Y318H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	302						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158747327	158747327	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158747327G>A	uc003lxr.1	-	5	726	c.684C>T	c.(682-684)TTC>TTT	p.F228F		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	228					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159832114	159832114	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159832114C>T	uc003lyg.2	-	13	1471	c.1316G>A	c.(1315-1317)GGC>GAC	p.G439D		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	439					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161317996	161317996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161317996A>T	uc010jiw.2	+	9	1264	c.796A>T	c.(796-798)ATT>TTT	p.I266F	GABRA1_uc010jix.2_Missense_Mutation_p.I266F|GABRA1_uc010jiy.2_Missense_Mutation_p.I266F|GABRA1_uc003lyx.3_Missense_Mutation_p.I266F|GABRA1_uc010jiz.2_Missense_Mutation_p.I266F|GABRA1_uc010jja.2_Missense_Mutation_p.I266F|GABRA1_uc010jjb.2_Missense_Mutation_p.I266F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	266	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)													---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580347	161580347	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161580347C>A	uc003lyz.3	+	9	1735	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	GABRG2_uc010jjc.2_Silent_p.V507V|GABRG2_uc003lyy.3_Silent_p.V467V|GABRG2_uc011dej.1_Silent_p.V364V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	459	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167674382	167674382	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167674382C>T	uc010jjd.2	+	27	6411	c.6411C>T	c.(6409-6411)GCC>GCT	p.A2137A	ODZ2_uc003lzr.3_Silent_p.A1907A|ODZ2_uc003lzt.3_Silent_p.A1510A|ODZ2_uc010jje.2_Silent_p.A1401A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167855037	167855037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167855037G>T	uc003lzu.2	+	12	1904	c.1811_splice	c.e12-1	p.A604_splice	WWC1_uc003lzv.2_Splice_Site_p.A604_splice|WWC1_uc011den.1_Splice_Site_p.A604_splice|WWC1_uc003lzw.2_Splice_Site_p.A403_splice	NM_015238	NP_056053			WW and C2 domain containing 1 isoform 3						cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)														---	---	---	---
FBLL1	345630	broad.mit.edu	37	5	167957293	167957293	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167957293G>A	uc011dep.1	+	1	712	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NR_024356				RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1;          EC=2.1.1.-;												0																		---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168244401	168244401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168244401G>A	uc003mab.2	-	8	1117	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.R233*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R233*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R30*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	233	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169025591	169025591	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169025591T>C	uc003mae.3	+						CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255			coiled-coil domain containing 99						cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139186	169139186	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139186A>G	uc003maf.2	+	17	1698	c.1618A>G	c.(1618-1620)ACT>GCT	p.T540A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Missense_Mutation_p.T58A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	540	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139203	169139203	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139203A>G	uc003maf.2	+	17	1715	c.1635A>G	c.(1633-1635)GGA>GGG	p.G545G	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Silent_p.G63G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	545	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188543	169188543	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169188543A>G	uc003maf.2	+	25	2548	c.2468A>G	c.(2467-2469)TAC>TGC	p.Y823C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y315C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	823					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169445980	169445980	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169445980C>T	uc003maf.2	+	33	3329	c.3249C>T	c.(3247-3249)TGC>TGT	p.C1083C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.C575C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1083	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169461563	169461563	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169461563C>T	uc003maf.2	+						DOCK2_uc011der.1_Intron|DOCK2_uc010jjm.2_Intron	NM_004946	NP_004937			dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169675795	169675795	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169675795T>A	uc003man.1	-	21	1715	c.1508A>T	c.(1507-1509)GAC>GTC	p.D503V	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.D298V|LCP2_uc011det.1_Missense_Mutation_p.D332V	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	503	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169685133	169685133	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169685133A>G	uc003man.1	-	16	1215	c.1008T>C	c.(1006-1008)CCT>CCC	p.P336P	LCP2_uc011des.1_Silent_p.P131P|LCP2_uc011det.1_Silent_p.P165P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	336					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	170149719	170149719	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170149719C>G	uc003mas.2	+	6	892	c.363C>G	c.(361-363)GAC>GAG	p.D121E	KCNIP1_uc003map.2_Missense_Mutation_p.D119E|KCNIP1_uc003mat.2_Missense_Mutation_p.D110E|KCNIP1_uc010jjp.2_Missense_Mutation_p.D82E|KCNIP1_uc010jjq.2_Missense_Mutation_p.D135E	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	121	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170669797	170669797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170669797T>A	uc003mba.2	+	24	2765	c.2749T>A	c.(2749-2751)TCT>ACT	p.S917T	RANBP17_uc003mbb.2_Missense_Mutation_p.S242T|RANBP17_uc003mbd.2_Missense_Mutation_p.S280T|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	917					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170725821	170725821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170725821G>A	uc003mba.2	+	28	3242	c.3226G>A	c.(3226-3228)GAT>AAT	p.D1076N	RANBP17_uc003mbb.2_Missense_Mutation_p.D401N|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1076					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
NPM1	4869	broad.mit.edu	37	5	170818392	170818392	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170818392A>T	uc011dex.1	+	4	357	c.222A>T	c.(220-222)GTA>GTT	p.V74V	NPM1_uc003mbh.2_Silent_p.V74V|NPM1_uc003mbi.2_Silent_p.V74V|NPM1_uc003mbj.2_Silent_p.V74V	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	74	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T|F 	ALK|RARA|MLF1	NHL|APL|AML								---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171303497	171303497	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171303497A>T	uc003mbm.1	-	8	1321	c.950T>A	c.(949-951)ATC>AAC	p.I317N	FBXW11_uc011dey.1_Missense_Mutation_p.I285N|FBXW11_uc003mbl.1_Missense_Mutation_p.I304N|FBXW11_uc003mbn.1_Missense_Mutation_p.I283N	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	317					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172386991	172386991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172386991C>T	uc003mcc.2	+	2	157	c.115C>T	c.(115-117)CGG>TGG	p.R39W	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172660160	172660160	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172660160G>A	uc003mcm.1	-	2	563	c.387C>T	c.(385-387)AAC>AAT	p.N129N	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	129					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
STC2	8614	broad.mit.edu	37	5	172752893	172752893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172752893T>C	uc003mco.1	-	2	1582	c.272A>G	c.(271-273)AAC>AGC	p.N91S	STC2_uc003mcn.1_Missense_Mutation_p.N6S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	91					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
HMP19	51617	broad.mit.edu	37	5	173531319	173531319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173531319G>A	uc003mcx.2	+	4	447	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	HMP19_uc011dfh.1_Missense_Mutation_p.A5T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	101	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176004773	176004773	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176004773G>A	uc003mem.1	+	14	1552	c.1486G>A	c.(1486-1488)GGC>AGC	p.G496S	CDHR2_uc003men.1_Missense_Mutation_p.G496S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	496	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176005480	176005480	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176005480C>T	uc003mem.1	+	16	1755	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	CDHR2_uc003men.1_Silent_p.G563G	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	563	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011262	176011262	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176011262T>C	uc003mem.1	+	18	2194	c.2128_splice	c.e18+2	p.G710_splice	CDHR2_uc003men.1_Splice_Site_p.G710_splice	NM_017675	NP_060145			protocadherin LKC precursor						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176295830	176295830	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176295830C>T	uc003mey.2	+	5	778	c.586C>T	c.(586-588)CCC>TCC	p.P196S	UNC5A_uc003mex.1_Missense_Mutation_p.P196S|UNC5A_uc010jkg.1_Missense_Mutation_p.P156S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	196	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176297464	176297464	+	Missense_Mutation	SNP	G	A	A	rs147243158	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176297464G>A	uc003mey.2	+	6	1007	c.815G>A	c.(814-816)CGC>CAC	p.R272H	UNC5A_uc003mex.1_Missense_Mutation_p.R272H|UNC5A_uc010jkg.1_Missense_Mutation_p.R232H	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	272	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306343	176306343	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176306343G>T	uc003mey.2	+	14	2409	c.2217G>T	c.(2215-2217)GAG>GAT	p.E739D		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	739	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
HK3	3101	broad.mit.edu	37	5	176314586	176314586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176314586G>A	uc003mfa.2	-	11	1558	c.1466C>T	c.(1465-1467)CCA>CTA	p.P489L	HK3_uc003mez.2_Missense_Mutation_p.P45L	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	489	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176382954	176382954	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176382954A>G	uc011dfp.1	-						UIMC1_uc003mfc.1_Intron|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374			ubiquitin interaction motif containing 1						double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176562872	176562872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176562872C>T	uc003mfr.3	+	2	906	c.768C>T	c.(766-768)GCC>GCT	p.A256A	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.A256A|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.A256A|NSD1_uc003mfq.2_Silent_p.A256A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	256					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176694615	176694615	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176694615C>T	uc003mfr.3	+	15	5337	c.5199C>T	c.(5197-5199)TGC>TGT	p.C1733C	NSD1_uc003mft.3_Silent_p.C1464C|NSD1_uc003mfs.1_Silent_p.C1630C|NSD1_uc011dfx.1_Silent_p.C1381C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1733	PHD-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707623	176707623	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176707623C>T	uc003mfr.3	+	18	5818	c.5680C>T	c.(5680-5682)CGT>TGT	p.R1894C	NSD1_uc003mft.3_Missense_Mutation_p.R1625C|NSD1_uc003mfs.1_Missense_Mutation_p.R1791C|NSD1_uc011dfx.1_Missense_Mutation_p.R1542C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1894	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
MXD3	83463	broad.mit.edu	37	5	176734623	176734623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176734623T>C	uc003mgb.2	-	6	1048	c.587A>G	c.(586-588)CAC>CGC	p.H196R	MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.T222A|MXD3_uc003mgc.2_Missense_Mutation_p.H186R	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176765512	176765512	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176765512T>C	uc003mge.2	-	3	647	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	LMAN2_uc003mgd.2_Missense_Mutation_p.Y137C	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	137	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176943356	176943356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176943356G>A	uc003mho.2	-	3	252	c.231C>T	c.(229-231)ATC>ATT	p.I77I	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	77					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)															---	---	---	---
TMED9	54732	broad.mit.edu	37	5	177022356	177022356	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177022356C>T	uc003mhx.2	+	5	650	c.647C>T	c.(646-648)GCC>GTC	p.A216V	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	216	Helical; (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419899	177419899	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177419899C>T	uc003mif.1	-	3	801	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	164					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177682016	177682016	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177682016G>A	uc003mje.2	-	16	1252	c.894C>T	c.(892-894)GGC>GGT	p.G298G	COL23A1_uc010jkt.2_Silent_p.G180G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	298	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)														---	---	---	---
ZNF354B	117608	broad.mit.edu	37	5	178293336	178293336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178293336T>C	uc003mjl.2	+	3	351	c.125T>C	c.(124-126)GTG>GCG	p.V42A	ZNF354B_uc003mjm.2_Missense_Mutation_p.V42A	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
ZFP2	80108	broad.mit.edu	37	5	178359389	178359389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178359389T>C	uc003mjn.1	+	5	1584	c.1075T>C	c.(1075-1077)TGT>CGT	p.C359R	ZFP2_uc010jky.2_Missense_Mutation_p.C359R|ZFP2_uc010jkx.1_Missense_Mutation_p.C359R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	359	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178408805	178408805	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178408805C>T	uc003mjr.2	-	10	2666	c.2487G>A	c.(2485-2487)TCG>TCA	p.S829S	GRM6_uc003mjq.2_Silent_p.S232S	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	829	Helical; Name=7; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413301	178413301	+	Missense_Mutation	SNP	C	T	T	rs150850494		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413301C>T	uc003mjr.2	-	8	2133	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A235T|GRM6_uc003mjs.1_Missense_Mutation_p.A272T	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	652	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178556924	178556924	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178556924T>C	uc003mjw.2	-							NM_014244	NP_055059			ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178699971	178699971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178699971A>G	uc003mjw.2	-	3	629	c.629T>C	c.(628-630)GTG>GCG	p.V210A	ADAMTS2_uc011dgm.1_Missense_Mutation_p.V210A	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179201856	179201856	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179201856A>G	uc003mkm.2	+	5	3292	c.3029A>G	c.(3028-3030)GAC>GGC	p.D1010G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	1010					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
SQSTM1	8878	broad.mit.edu	37	5	179251252	179251252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179251252G>A	uc003mkw.3	+	4	697	c.602G>A	c.(601-603)GGT>GAT	p.G201D	SQSTM1_uc011dgr.1_Missense_Mutation_p.G117D|SQSTM1_uc011dgs.1_Missense_Mutation_p.G117D|SQSTM1_uc003mkv.3_Missense_Mutation_p.G201D|SQSTM1_uc003mkx.2_Missense_Mutation_p.G117D	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	201	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											Paget_Disease_of_Bone				---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179302057	179302057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179302057G>A	uc003mlh.2	-	12	2068	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	TBC1D9B_uc003mli.2_Silent_p.S677S|TBC1D9B_uc003mlj.2_Silent_p.S677S|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	677	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
RASGEF1C	255426	broad.mit.edu	37	5	179564616	179564616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179564616G>A	uc003mlq.2	-	2	571	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	RASGEF1C_uc003mlr.2_Nonsense_Mutation_p.Q92*|RASGEF1C_uc003mlp.3_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	92	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179688787	179688787	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179688787C>T	uc003mls.3	-	5	618	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	MAPK9_uc003mlt.3_Missense_Mutation_p.C116Y|MAPK9_uc010jlc.2_Missense_Mutation_p.C116Y|MAPK9_uc003mlv.3_Missense_Mutation_p.C116Y|MAPK9_uc011dgx.1_Missense_Mutation_p.C116Y	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	116	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179696371	179696371	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179696371A>T	uc003mls.3	-	3	432	c.161T>A	c.(160-162)GTC>GAC	p.V54D	MAPK9_uc003mlt.3_Missense_Mutation_p.V54D|MAPK9_uc010jlc.2_Missense_Mutation_p.V54D|MAPK9_uc003mlv.3_Missense_Mutation_p.V54D|MAPK9_uc011dgx.1_Missense_Mutation_p.V54D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	54	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180049752	180049752	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180049752G>A	uc003mma.3	-	12	1715	c.1636C>T	c.(1636-1638)CTC>TTC	p.L546F	FLT4_uc003mlz.3_Missense_Mutation_p.L546F|FLT4_uc003mmb.1_Missense_Mutation_p.L79F|FLT4_uc011dgy.1_Missense_Mutation_p.L546F	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	546	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
OR2Y1	134083	broad.mit.edu	37	5	180166620	180166620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180166620C>T	uc003mmf.1	-	1	439	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219453	180219453	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180219453C>T	uc003mmg.3	-	2	1014	c.519G>A	c.(517-519)CCG>CCA	p.P173P	MGAT1_uc010jlf.2_Silent_p.P173P|MGAT1_uc010jlg.2_Silent_p.P173P|MGAT1_uc003mmh.3_Silent_p.P173P|MGAT1_uc010jlh.2_Silent_p.P173P|MGAT1_uc003mmi.3_Silent_p.P173P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582008	180582008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180582008T>C	uc011dhj.1	+	1	66	c.66T>C	c.(64-66)AGT>AGC	p.S22S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687728	180687728	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180687728G>A	uc003mnp.2	-	1	392	c.87C>T	c.(85-87)GAC>GAT	p.D29D	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	29	RING-type.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)														---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	335142	335142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:335142C>T	uc003msx.2	+	4	606	c.167C>T	c.(166-168)GCG>GTG	p.A56V	DUSP22_uc011dhn.1_Missense_Mutation_p.A56V|DUSP22_uc003msy.1_Missense_Mutation_p.A13V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)														---	---	---	---
IRF4	3662	broad.mit.edu	37	6	405036	405036	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:405036A>G	uc003msz.3	+	8	1231	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H372R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	373					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)				T	IGH@	MM 								---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	486729	486729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:486729C>T	uc003mtd.2	-	28	2851	c.2717G>A	c.(2716-2718)AGC>AAC	p.S906N	EXOC2_uc003mte.2_Missense_Mutation_p.S906N|EXOC2_uc011dho.1_Missense_Mutation_p.S501N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	906					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	532476	532476	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:532476A>T	uc003mtd.2	-	23	2507	c.2373T>A	c.(2371-2373)CCT>CCA	p.P791P	EXOC2_uc003mte.2_Silent_p.P791P|EXOC2_uc011dho.1_Silent_p.P386P	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	791					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	564541	564541	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:564541T>A	uc003mtd.2	-						EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773			Sec5 protein						exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
GMDS	2762	broad.mit.edu	37	6	1960171	1960171	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1960171C>T	uc003mtq.2	-	6	763	c.573G>A	c.(571-573)GTG>GTA	p.V191V		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	191					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)														---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2680510	2680510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2680510A>G	uc003mty.3	-	8	1000	c.703T>C	c.(703-705)TGT>CGT	p.C235R	MYLK4_uc003mtx.3_5'Flank	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	235	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)																---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2948804	2948804	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2948804G>A	uc003muk.2	-	6	2854	c.859C>T	c.(859-861)CGC>TGC	p.R287C	SERPINB6_uc003mui.2_Missense_Mutation_p.R170C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.R287C|SERPINB6_uc003mum.2_Missense_Mutation_p.R287C|SERPINB6_uc003mun.2_Missense_Mutation_p.R287C|SERPINB6_uc003muo.2_Missense_Mutation_p.R287C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	287					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)													---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2954826	2954826	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2954826C>A	uc003muk.2	-	3	2425	c.430G>T	c.(430-432)GGT>TGT	p.G144C	SERPINB6_uc003mui.2_Missense_Mutation_p.G27C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G144C|SERPINB6_uc003mum.2_Missense_Mutation_p.G144C|SERPINB6_uc003mun.2_Missense_Mutation_p.G144C|SERPINB6_uc003muo.2_Missense_Mutation_p.G144C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	144					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)													---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850883	3850883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850883G>T	uc003mvu.2	+	2	950	c.838G>T	c.(838-840)GCC>TCC	p.A280S		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	280						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4031897	4031897	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4031897A>G	uc003mvv.2	+	2	237	c.146A>G	c.(145-147)AAA>AGA	p.K49R	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	49	His-rich.|Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032892	4032892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032892T>C	uc003mvv.2	+	2	1232	c.1141T>C	c.(1141-1143)TCC>CCC	p.S381P	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	381	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4053072	4053072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4053072A>G	uc003mvv.2	+	11	2522	c.2431A>G	c.(2431-2433)ATC>GTC	p.I811V	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	811	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4716115	4716115	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4716115G>A	uc003mwi.2	+	2	234	c.103G>A	c.(103-105)GTG>ATG	p.V35M		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	35					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4892095	4892095	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4892095G>A	uc003mwi.2	+	4	466	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CDYL_uc003mwj.2_Missense_Mutation_p.R58H|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	112	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5613496	5613496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5613496C>T	uc010jnv.1	+	6	1496	c.1160C>T	c.(1159-1161)ACA>ATA	p.T387I	FARS2_uc003mwr.2_Missense_Mutation_p.T387I	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	387	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)													---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7374252	7374252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7374252G>A	uc003mxi.2	-	4	1113	c.392C>T	c.(391-393)ACT>ATT	p.T131I	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T22I|CAGE1_uc003mxk.1_Missense_Mutation_p.T22I	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	267											0	Ovarian(93;0.0418)																	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7571730	7571730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7571730C>T	uc003mxp.1	+	14	2095	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	DSP_uc003mxq.1_Missense_Mutation_p.R606W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	606	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7580889	7580889	+	Missense_Mutation	SNP	T	C	C	rs143380327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7580889T>C	uc003mxp.1	+	23	4745	c.4466T>C	c.(4465-4467)CTG>CCG	p.L1489P	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1489	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584584	7584584	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7584584C>T	uc003mxp.1	+	24	7368	c.7089C>T	c.(7087-7089)CAC>CAT	p.H2363H	DSP_uc003mxq.1_Silent_p.H1764H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2363	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SLC35B3	51000	broad.mit.edu	37	6	8428191	8428191	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8428191A>G	uc010joe.2	-	4	564	c.398T>C	c.(397-399)CTT>CCT	p.L133P	SLC35B3_uc003mya.2_Missense_Mutation_p.L101P|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L133P|SLC35B3_uc011did.1_Missense_Mutation_p.L133P|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	133	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)																	---	---	---	---
C6orf218	221718	broad.mit.edu	37	6	10430275	10430275	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10430275T>C	uc003myz.2	-	3		c.761A>G				NR_027793				Homo sapiens chromosome 6 open reading frame 218, mRNA (cDNA clone IMAGE:3917693).												0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.124)														OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAK1IP1	55003	broad.mit.edu	37	6	10709645	10709645	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10709645A>G	uc003mzg.2	+	10	1170	c.1139A>G	c.(1138-1140)GAA>GGA	p.E380G		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	380					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10796316	10796316	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10796316A>G	uc003mzl.2	-	8	1287	c.1058T>C	c.(1057-1059)CTG>CCG	p.L353P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L353P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10802142	10802142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10802142G>A	uc003mzl.2	-	7	1043	c.814C>T	c.(814-816)CGA>TGA	p.R272*	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Nonsense_Mutation_p.R272*|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	272	Protein kinase.		R -> P (in a breast infiltrating ductal carcinoma sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R272P(2)		breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)														OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ELOVL2	54898	broad.mit.edu	37	6	10989995	10989995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10989995T>C	uc003mzp.3	-	7	867	c.706A>G	c.(706-708)ATC>GTC	p.I236V		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	236	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191156	11191156	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11192566	11192566	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11192566T>C	uc003mzv.2	-						NEDD9_uc010joz.2_Intron|NEDD9_uc003mzw.3_Intron	NM_006403	NP_006394			neural precursor cell expressed, developmentally						actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11565992	11565992	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11565992A>T	uc010jpa.2	+	2	191	c.191A>T	c.(190-192)CAT>CTT	p.H64L		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	64	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13588569	13588569	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13588569C>G	uc003nay.2	+	4	418	c.122C>G	c.(121-123)GCA>GGA	p.A41G	SIRT5_uc003naw.2_Missense_Mutation_p.A41G|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.A41G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	41	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13634706	13634706	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13634706G>A	uc003nbb.2	-	11	1811	c.1752C>T	c.(1750-1752)AGC>AGT	p.S584S	RANBP9_uc003nba.2_Silent_p.S243S	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	584					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)															---	---	---	---
CCDC90A	63933	broad.mit.edu	37	6	13802559	13802559	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13802559T>C	uc003nbd.2	-	3	683	c.555A>G	c.(553-555)GCA>GCG	p.A185A	CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	185						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496890	15496890	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15496890A>G	uc003nbj.2	+	7	1678	c.1434A>G	c.(1432-1434)AGA>AGG	p.R478R	JARID2_uc011diu.1_Silent_p.R342R|JARID2_uc011div.1_Silent_p.R306R|JARID2_uc011diw.1_Silent_p.R440R	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	478					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15501302	15501302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15501302T>C	uc003nbj.2	+	8	2354	c.2110T>C	c.(2110-2112)TAC>CAC	p.Y704H	JARID2_uc011div.1_Missense_Mutation_p.Y532H|JARID2_uc011diw.1_Missense_Mutation_p.Y666H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	704	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15512570	15512570	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15512570C>T	uc003nbj.2	+	14	3328	c.3084C>T	c.(3082-3084)ACC>ACT	p.T1028T	JARID2_uc011div.1_Silent_p.T856T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1028	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
DTNBP1	84062	broad.mit.edu	37	6	15523311	15523311	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15523311G>T	uc003nbm.2	-	10	1122	c.951C>A	c.(949-951)CCC>CCA	p.P317P	DTNBP1_uc003nbl.2_Silent_p.P236P|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	317	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)											Hermansky-Pudlak_syndrome				---	---	---	---
GMPR	2766	broad.mit.edu	37	6	16279053	16279053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16279053T>C	uc003nbs.2	+	6	700	c.586T>C	c.(586-588)TAC>CAC	p.Y196H		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	196					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)																---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16307007	16307007	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16307007C>T	uc003nbt.2	-	9	2972	c.2001G>A	c.(1999-2001)CAG>CAA	p.Q667Q	ATXN1_uc010jpi.2_Silent_p.Q667Q|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	667	Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)																---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292149	17292149	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17292149T>C	uc003nbz.3	+	4	514	c.510T>C	c.(508-510)GCT>GCC	p.A170A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A112A|RBM24_uc003nca.2_Silent_p.A125A|RBM24_uc011diy.1_Missense_Mutation_p.L84P|RBM24_uc011diz.1_Missense_Mutation_p.L69P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	170	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17626268	17626268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17626268A>G	uc003ncd.1	-	19	3872	c.3672T>C	c.(3670-3672)GCT>GCC	p.A1224A	NUP153_uc011dje.1_Silent_p.A1255A|NUP153_uc010jpl.1_Silent_p.A1182A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1224					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17632925	17632925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17632925A>G	uc003ncd.1	-	17	2815	c.2615T>C	c.(2614-2616)TTG>TCG	p.L872S	NUP153_uc011dje.1_Missense_Mutation_p.L903S|NUP153_uc010jpl.1_Missense_Mutation_p.L830S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	872	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637492	17637492	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637492A>C	uc003ncd.1	-	16	2556	c.2356T>G	c.(2356-2358)TTT>GTT	p.F786V	NUP153_uc011dje.1_Missense_Mutation_p.F817V|NUP153_uc010jpl.1_Missense_Mutation_p.F744V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	786					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637537	17637537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637537T>A	uc003ncd.1	-	16	2511	c.2311A>T	c.(2311-2313)ACT>TCT	p.T771S	NUP153_uc011dje.1_Missense_Mutation_p.T802S|NUP153_uc010jpl.1_Missense_Mutation_p.T729S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	771					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17764724	17764724	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17764724T>C	uc003ncg.3	-	39	5140	c.5035A>G	c.(5035-5037)AGC>GGC	p.S1679G	KIF13A_uc003ncf.2_Missense_Mutation_p.S1631G|KIF13A_uc003nch.3_Missense_Mutation_p.S1644G|KIF13A_uc003nci.3_Missense_Mutation_p.S1631G|KIF13A_uc003nce.1_Missense_Mutation_p.S230G	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1679					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---
NHLRC1	378884	broad.mit.edu	37	6	18122018	18122018	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18122018C>A	uc003ncl.1	-	1	834	c.820G>T	c.(820-822)GGG>TGG	p.G274W		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	274	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)															---	---	---	---
NHLRC1	378884	broad.mit.edu	37	6	18122144	18122144	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18122144T>C	uc003ncl.1	-	1	708	c.694A>G	c.(694-696)ACT>GCT	p.T232A		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	232	NHL 3.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)															---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18217973	18217973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18217973G>A	uc003nco.1	+	14	1708	c.1633G>A	c.(1633-1635)GAT>AAT	p.D545N	KDM1B_uc003ncn.1_Missense_Mutation_p.D516N|KDM1B_uc003ncp.1_Missense_Mutation_p.D101N|KDM1B_uc003ncq.1_Missense_Mutation_p.D101N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	748					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1																		---	---	---	---
RNF144B	255488	broad.mit.edu	37	6	18465249	18465249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18465249G>A	uc003ncs.2	+	8	1167	c.863G>A	c.(862-864)TGC>TAC	p.C288Y		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	288					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20483131	20483131	+	Silent	SNP	C	T	T	rs139915140		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20483131C>T	uc003nda.2	+	4	1191	c.864C>T	c.(862-864)ACC>ACT	p.T288T	E2F3_uc003ncz.2_Silent_p.T282T	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	288	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20490487	20490487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20490487G>A	uc003nda.2	+	7	1551	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	408	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178686	24178686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178686G>A	uc003ndx.2	-	9	1500	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	DCDC2_uc003ndy.2_Missense_Mutation_p.R400C|DCDC2_uc003ndw.2_Missense_Mutation_p.R151C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178771	24178771	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178771A>G	uc003ndx.2	-	9	1415	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	DCDC2_uc003ndy.2_Silent_p.G371G|DCDC2_uc003ndw.2_Silent_p.G122G	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	371					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24436855	24436855	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24436855A>G	uc003ned.1	-	22	2418	c.2307T>C	c.(2305-2307)GGT>GGC	p.G769G		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	769	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24463015	24463015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24463015T>C	uc003ned.1	-	11	941	c.830A>G	c.(829-831)AAC>AGC	p.N277S	GPLD1_uc010jpr.1_Missense_Mutation_p.N114S|GPLD1_uc010jps.1_Missense_Mutation_p.N277S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	277						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24850864	24850864	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24850864T>C	uc003neo.1	-	10	935	c.759A>G	c.(757-759)ACA>ACG	p.T253T	FAM65B_uc011djs.1_Silent_p.T282T|FAM65B_uc011dju.1_Silent_p.T287T|FAM65B_uc003nep.2_Silent_p.T253T|FAM65B_uc011djt.1_Silent_p.T253T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	253					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1																		---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25600765	25600765	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25600765G>A	uc011djw.1	+	33	3719	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	LRRC16A_uc010jpx.2_Missense_Mutation_p.E1115K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1115K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1115					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726369	25726369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726369T>C	uc003nfc.2	-	1	422	c.387A>G	c.(385-387)CAA>CAG	p.Q129Q	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	129					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25819947	25819947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25819947C>T	uc003nfh.3	-	4	520	c.404G>A	c.(403-405)TGG>TAG	p.W135*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.W133*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.W133*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	135	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983804	25983804	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25983804T>A	uc003nfm.2	+	8	1722	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	TRIM38_uc003nfn.2_Missense_Mutation_p.N411K|TRIM38_uc010jqd.2_Missense_Mutation_p.N65K	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	429	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---
HIST1H3C	8352	broad.mit.edu	37	6	26045888	26045888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26045888C>T	uc003nfv.2	+	1	250	c.250C>T	c.(250-252)CGT>TGT	p.R84C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	84					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056483	26056483	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26056483A>T	uc003nfw.2	-	1	217	c.174T>A	c.(172-174)TCT>TCA	p.S58S		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	58	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5																		---	---	---	---
HIST1H2BC	8347	broad.mit.edu	37	6	26123956	26123956	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26123956G>T	uc003ngk.3	-	1	199	c.177C>A	c.(175-177)GCC>GCA	p.A59A	HIST1H2BC_uc003ngl.2_Silent_p.A59A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	59					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H4D	8360	broad.mit.edu	37	6	26189068	26189068	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26189068G>A	uc003ngu.2	-	1	237	c.237C>T	c.(235-237)CGC>CGT	p.R79R		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	79					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200153	26200153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26200153A>T	uc003ngx.2	+	1	367	c.367A>T	c.(367-369)ACC>TCC	p.T123S	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217403	26217403	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26217403T>A	uc003nha.1	+	1	256	c.201T>A	c.(199-201)GCT>GCA	p.A67A	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	67					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)																---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26235016	26235016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26235016A>G	uc003nhd.2	-	1	201	c.146T>C	c.(145-147)GTG>GCG	p.V49A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)																---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393114	26393114	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26393114T>C	uc003nhq.2	+	8	1577	c.1491T>C	c.(1489-1491)CCT>CCC	p.P497P	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Silent_p.P381P|BTN2A2_uc011dkh.1_Silent_p.P287P|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Silent_p.P497P|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	497	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0																		---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26405878	26405878	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26405878T>C	uc003nhv.2	+	2	453	c.85_splice	c.e2+2	p.A29_splice	BTN3A1_uc011dkj.1_Splice_Site_p.A29_splice|BTN3A1_uc011dkk.1_Splice_Site_p.A29_splice|BTN3A1_uc010jqj.2_Splice_Site_p.A29_splice	NM_007048	NP_008979			butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783212	27783212	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27783212T>C	uc003njo.2	+	1					HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512			histone cluster 1, H2bm						nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834982	27834982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27834982T>C	uc003njx.2	-	1	378	c.326A>G	c.(325-327)AAA>AGA	p.K109R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835025	27835025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27835025T>C	uc003njx.2	-	1	335	c.283A>G	c.(283-285)ACC>GCC	p.T95A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	95	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879120	27879120	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27879120T>G	uc011dkw.1	-	1	978	c.978A>C	c.(976-978)ACA>ACC	p.T326T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	326	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056987	28056987	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28056987C>A	uc003nkg.2	+	5	2281	c.1197C>A	c.(1195-1197)CCC>CCA	p.P399P	ZNF165_uc003nkh.2_Silent_p.P399P|ZNF165_uc003nki.3_Silent_p.P399P|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	399					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28268774	28268774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28268774G>T	uc003nky.2	+	7	1513	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	PGBD1_uc003nkz.2_Missense_Mutation_p.K381N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	381					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4																		---	---	---	---
ZNF323	64288	broad.mit.edu	37	6	28294205	28294205	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28294205T>C	uc003nla.2	-	4	1359	c.959A>G	c.(958-960)GAA>GGA	p.E320G	ZNF323_uc003nld.2_Missense_Mutation_p.E320G|ZNF323_uc010jra.2_Missense_Mutation_p.E320G|ZNF323_uc003nlb.2_Missense_Mutation_p.E161G|ZNF323_uc010jrb.2_Missense_Mutation_p.E161G|ZNF323_uc003nlc.2_Missense_Mutation_p.E320G	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327716	28327716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28327716T>C	uc003nle.3	+	2	569	c.353T>C	c.(352-354)GTG>GCG	p.V118A	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.V118A|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	118	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---
SCAND3	114821	broad.mit.edu	37	6	28554087	28554087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28554087T>A	uc003nlo.2	-	1	1026	c.408A>T	c.(406-408)GAA>GAT	p.E136D	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	136					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29079854	29079854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29079854T>C	uc011dll.1	+	1	187	c.187T>C	c.(187-189)TAC>CAC	p.Y63H		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29394945	29394945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29394945T>C	uc003nmg.2	-	1	565	c.474A>G	c.(472-474)GGA>GGG	p.G158G		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29576503	29576503	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29576503G>T	uc003nmt.3	-	16	2203	c.1867C>A	c.(1867-1869)CAG>AAG	p.Q623K	GABBR1_uc003nmp.3_Missense_Mutation_p.Q506K|GABBR1_uc003nms.3_Missense_Mutation_p.Q506K|GABBR1_uc003nmu.3_Missense_Mutation_p.Q561K|GABBR1_uc011dlr.1_Missense_Mutation_p.Q446K|GABBR1_uc011dls.1_Silent_p.S572S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	623	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
ZFP57	346171	broad.mit.edu	37	6	29643256	29643256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29643256A>G	uc011dlw.1	-	3	410	c.259T>C	c.(259-261)TTT>CTT	p.F87L	ZFP57_uc003nnl.3_Missense_Mutation_p.F67L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	59	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043021	30043021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043021G>A	uc003npe.2	-	1	608	c.546C>T	c.(544-546)GGC>GGT	p.G182G	RNF39_uc003npd.2_Silent_p.G182G	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	182						cytoplasm	zinc ion binding				0																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043550	30043550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043550A>G	uc003npe.2	-	1	79	c.17T>C	c.(16-18)TTG>TCG	p.L6S	RNF39_uc003npd.2_Missense_Mutation_p.L6S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	6						cytoplasm	zinc ion binding				0																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30514577	30514577	+	Missense_Mutation	SNP	G	A	A	rs141407258	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30514577G>A	uc003nqh.2	-	11	2506	c.1478C>T	c.(1477-1479)GCG>GTG	p.A493V	GNL1_uc011dmi.1_Missense_Mutation_p.A290V|GNL1_uc011dmj.1_Missense_Mutation_p.A491V|GNL1_uc011dmk.1_Missense_Mutation_p.A148V	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	493					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30515059	30515059	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30515059A>G	uc003nqh.2	-						GNL1_uc011dmi.1_Intron|GNL1_uc011dmj.1_Intron|GNL1_uc011dmk.1_Intron	NM_005275	NP_005266			guanine nucleotide binding protein-like 1						response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30523965	30523965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30523965G>A	uc003nqh.2	-	1	1044	c.16C>T	c.(16-18)CCA>TCA	p.P6S	GNL1_uc011dmi.1_5'Flank|GNL1_uc011dmj.1_5'Flank|GNL1_uc011dmk.1_5'UTR|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	6					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569986	30569986	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30569986G>A	uc003nqn.1	-	19	2992	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	PPP1R10_uc010jsc.1_Missense_Mutation_p.R468C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	814	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30571905	30571905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30571905C>T	uc003nqn.1	-	14	1940	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	PPP1R10_uc010jsc.1_Missense_Mutation_p.C117Y	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	463	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572227	30572227	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30572227T>C	uc003nqn.1	-	13	1716	c.1164A>G	c.(1162-1164)CAA>CAG	p.Q388Q	PPP1R10_uc010jsc.1_Silent_p.Q42Q	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	388	Necessary for interaction with PPP1CA (By similarity).|Essential for PPP1CA inhibition (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
MRPS18B	28973	broad.mit.edu	37	6	30587523	30587523	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30587523T>C	uc003nqo.2	+	3	382	c.225T>C	c.(223-225)GCT>GCC	p.A75A	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Silent_p.A75A|MRPS18B_uc010jsd.1_Silent_p.A75A	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	75					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30630513	30630513	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30630513A>G	uc003nqz.2	-	9	1647	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.Y419H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	479	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30671508	30671508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30671508T>C	uc003nrg.3	-	10	5892	c.5452A>G	c.(5452-5454)ATG>GTG	p.M1818V	MDC1_uc003nrf.3_Missense_Mutation_p.M449V|MDC1_uc011dmp.1_Missense_Mutation_p.M1425V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1818	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675399	30675399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30675399G>A	uc003nrg.3	-	8	3397	c.2957C>T	c.(2956-2958)TCT>TTT	p.S986F	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	986				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30890980	30890980	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30890980A>T	uc003nsc.1	+	23	2917	c.2285A>T	c.(2284-2286)GAG>GTG	p.E762V	VARS2_uc011dmx.1_Missense_Mutation_p.E762V|VARS2_uc011dmy.1_Missense_Mutation_p.E622V|VARS2_uc011dmz.1_Missense_Mutation_p.E792V|VARS2_uc011dna.1_Missense_Mutation_p.E760V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.E200V|VARS2_uc010jsg.1_Missense_Mutation_p.E134V|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	762					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31116476	31116476	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31116476G>A	uc003nsr.3	-	9	1248	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	CCHCR1_uc011dne.1_Silent_p.S375S|CCHCR1_uc003nsq.3_Silent_p.S428S|CCHCR1_uc003nsp.3_Silent_p.S464S|CCHCR1_uc010jsk.1_Silent_p.S375S	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	375	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1																		---	---	---	---
TCF19	6941	broad.mit.edu	37	6	31130321	31130321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31130321G>A	uc003nss.2	+	4	1389	c.865G>A	c.(865-867)GGG>AGG	p.G289R	TCF19_uc003nst.2_Missense_Mutation_p.G289R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	289	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
LTA	4049	broad.mit.edu	37	6	31540749	31540749	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31540749C>A	uc011dnu.1	+	3	357	c.144C>A	c.(142-144)GCC>GCA	p.A48A	LTA_uc003nue.1_Silent_p.A48A|LTA_uc003nuf.2_RNA|LTA_uc003nuh.2_5'UTR|LTA_uc003nug.2_5'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	48					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541079	31541079	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31541079C>T	uc011dnu.1	+	4	440	c.227C>T	c.(226-228)TCA>TTA	p.S76L	LTA_uc003nue.1_Missense_Mutation_p.S76L|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23L|LTA_uc003nug.2_Missense_Mutation_p.S23L|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	76					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31593291	31593291	+	Missense_Mutation	SNP	C	A	A	rs144276631		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31593291C>A	uc003nvb.3	+	7	911	c.662C>A	c.(661-663)CCG>CAG	p.P221Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.P221Q|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	221	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31600367	31600367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31600367C>T	uc003nvb.3	+	16	4166	c.3917C>T	c.(3916-3918)TCT>TTT	p.S1306F	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S1306F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1306	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31602965	31602965	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31602965G>T	uc003nvb.3	+	22	5466	c.5217G>T	c.(5215-5217)CAG>CAT	p.Q1739H	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.Q1739H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1739	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT3	7917	broad.mit.edu	37	6	31611972	31611972	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31611972C>A	uc003nvg.3	-	12	1780	c.1466_splice	c.e12-1	p.G489_splice	BAT3_uc003nvf.3_Splice_Site_p.G483_splice|BAT3_uc003nvh.3_Splice_Site_p.G483_splice|BAT3_uc003nvi.3_Splice_Site_p.G483_splice|BAT3_uc011dnw.1_Splice_Site_p.G483_splice|BAT3_uc011dnx.1_Splice_Site_p.G483_splice	NM_004639	NP_004630			HLA-B associated transcript-3 isoform a						apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0																		---	---	---	---
C6orf47	57827	broad.mit.edu	37	6	31627032	31627032	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31627032C>G	uc003nvm.1	-	1	1518	c.693G>C	c.(691-693)GGG>GGC	p.G231G		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	231										ovary(1)	1																		---	---	---	---
VARS	7407	broad.mit.edu	37	6	31747231	31747231	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31747231T>A	uc003nxe.2	-	28	3794	c.3371A>T	c.(3370-3372)GAC>GTC	p.D1124V	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.D61V	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---
C6orf48	50854	broad.mit.edu	37	6	31805219	31805219	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31805219A>G	uc003rjx.1	+						C6orf48_uc003rjy.1_Intron|C6orf48_uc003rjz.1_Intron	NM_001040437	NP_001035527			G8 protein												0																		---	---	---	---
CFB	629	broad.mit.edu	37	6	31914250	31914250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31914250C>T	uc003nyj.3	+	2	443	c.165C>T	c.(163-165)GGC>GGT	p.G55G	CFB_uc011dor.1_Silent_p.G557G|CFB_uc011dos.1_Silent_p.G55G|CFB_uc003nyi.2_Silent_p.G55G	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963556	31963556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963556G>A	uc011doy.1	+	25	3266	c.3215G>A	c.(3214-3216)CGG>CAG	p.R1072Q	C4A_uc011doz.1_Missense_Mutation_p.R1072Q	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963570	31963570	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963570T>C	uc011doy.1	+	25	3280	c.3229T>C	c.(3229-3231)TGG>CGG	p.W1077R	C4A_uc011doz.1_Missense_Mutation_p.W1077R	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1077					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017118	32017118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32017118T>C	uc003nzl.2	-	28	9882	c.9680A>G	c.(9679-9681)AAA>AGA	p.K3227R	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3274	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32021419	32021419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32021419C>T	uc003nzl.2	-	25	8733	c.8531G>A	c.(8530-8532)CGC>CAC	p.R2844H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2893	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32046840	32046840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32046840C>T	uc003nzl.2	-	11	4547	c.4345G>A	c.(4345-4347)GTG>ATG	p.V1449M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1536	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32064256	32064256	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32064256G>A	uc003nzl.2	-	3	1576	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	458	EGF-like 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32065914	32065914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32065914G>A	uc003nzl.2	-	2	264	c.62C>T	c.(61-63)GCC>GTC	p.A21V	TNXB_uc010jts.1_Missense_Mutation_p.A20V|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	21					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155497	32155497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32155497T>C	uc003oav.1	-	5	1068	c.797A>G	c.(796-798)CAC>CGC	p.H266R	PBX2_uc003oaw.2_Missense_Mutation_p.H266R	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	266	Homeobox; TALE-type.						transcription factor binding			ovary(1)	1																		---	---	---	---
HLA-DRA	3122	broad.mit.edu	37	6	32410334	32410334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32410334G>A	uc003obh.2	+	2	273	c.192G>A	c.(190-192)AAG>AAA	p.K64K	HLA-DRA_uc003obi.2_Silent_p.K64K	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	64	Extracellular (Potential).|Alpha-1.			K -> L (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2														T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782325	32782325	+	Missense_Mutation	SNP	T	A	A	rs139684832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782325T>A	uc011dqf.1	-	14	2358	c.2236A>T	c.(2236-2238)AAT>TAT	p.N746Y	HLA-DOB_uc003oca.2_Missense_Mutation_p.N139Y|HLA-DOB_uc011dqg.1_Missense_Mutation_p.N139Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782846	32782846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32906545	32906545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32906545T>C	uc003ocl.1	-	2	486	c.253A>G	c.(253-255)ACC>GCC	p.T85A	HLA-DMB_uc003ocj.1_Missense_Mutation_p.T85A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.T85A	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	85	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32944082	32944082	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32944082A>G	uc003ocn.3	+	6	2367	c.666A>G	c.(664-666)TCA>TCG	p.S222S	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.S222S|BRD2_uc003ocp.3_Silent_p.S102S|BRD2_uc010juh.2_Silent_p.S222S	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	222					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32947622	32947622	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32947622C>G	uc003ocn.3	+	11	3560	c.1859C>G	c.(1858-1860)ACA>AGA	p.T620R	BRD2_uc003ocq.3_Missense_Mutation_p.T620R|BRD2_uc003ocp.3_Missense_Mutation_p.T500R|BRD2_uc010juh.2_Missense_Mutation_p.T655R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	620					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975164	32975164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32975164G>A	uc003ocr.2	-	3	613	c.537C>T	c.(535-537)TTC>TTT	p.F179F	HLA-DOA_uc010juj.2_Silent_p.F149F|HLA-DOA_uc010jui.2_Silent_p.F179F	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	179	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133401	33133401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133401G>A	uc003ocx.1	-	63	4903	c.4675C>T	c.(4675-4677)CGG>TGG	p.R1559W	COL11A2_uc010jul.1_Missense_Mutation_p.R129W|COL11A2_uc003ocy.1_Missense_Mutation_p.R1473W|COL11A2_uc003ocz.1_Missense_Mutation_p.R1452W	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1559	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133486	33133486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133486G>A	uc003ocx.1	-	63	4818	c.4590C>T	c.(4588-4590)ACC>ACT	p.T1530T	COL11A2_uc010jul.1_Silent_p.T100T|COL11A2_uc003ocy.1_Silent_p.T1444T|COL11A2_uc003ocz.1_Silent_p.T1423T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1530					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
RING1	6015	broad.mit.edu	37	6	33177443	33177443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33177443G>A	uc003odk.2	+	3	313	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	RING1_uc011dqw.1_3'UTR|RING1_uc011dqx.1_Missense_Mutation_p.R40Q|RING1_uc003odl.2_Missense_Mutation_p.R11Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	40	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245430	33245430	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245430C>T	uc003odr.2	+	1	514	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	78	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245707G>A	uc003odr.2	+	1	791	c.511G>A	c.(511-513)GTC>ATC	p.V171I		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33247573	33247573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33247573C>T	uc003ods.2	-	13	1632	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K	WDR46_uc011dra.1_Missense_Mutation_p.E476K	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	530											0																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33365928	33365928	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33365928C>T	uc003oef.3	+	2	585	c.135C>T	c.(133-135)GGC>GGT	p.G45G	KIFC1_uc011drf.1_Silent_p.G45G|uc011drg.1_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	45					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33641390	33641390	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33641390A>T	uc011drk.1	+	23	3170	c.2951A>T	c.(2950-2952)GAT>GTT	p.D984V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	984	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33648175	33648175	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33648175T>C	uc011drk.1	+	32	4513	c.4294T>C	c.(4294-4296)TAC>CAC	p.Y1432H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1432	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
C6orf125	84300	broad.mit.edu	37	6	33669177	33669177	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33669177A>G	uc003ofa.1	-	2	200	c.159T>C	c.(157-159)TGT>TGC	p.C53C	C6orf125_uc003oez.1_5'Flank|C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	53											0																		---	---	---	---
LEMD2	221496	broad.mit.edu	37	6	33746099	33746099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33746099G>A	uc011drm.1	-	6	1089	c.1076C>T	c.(1075-1077)GCC>GTC	p.A359V	LEMD2_uc010jvg.2_Missense_Mutation_p.A68V|LEMD2_uc011drl.1_Missense_Mutation_p.A57V|LEMD2_uc003ofe.2_Missense_Mutation_p.A57V	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	359						integral to nuclear inner membrane				central_nervous_system(1)	1																		---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008103	34008103	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34008103G>A	uc003oir.3	-						GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Intron|GRM4_uc010jvi.2_Intron|GRM4_uc003oio.2_Intron|GRM4_uc003oip.2_Intron|GRM4_uc011dsl.1_Intron|GRM4_uc003oiq.2_Intron|GRM4_uc011dsm.1_Intron	NM_000841	NP_000832			glutamate receptor, metabotropic 4 precursor						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34495114	34495114	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34495114G>A	uc003ojo.2	+	3	275	c.69G>A	c.(67-69)GGG>GGA	p.G23G	PACSIN1_uc003ojp.2_Silent_p.G23G	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	23	FCH.				endocytosis		protein kinase activity				0																OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C6orf106	64771	broad.mit.edu	37	6	34574322	34574322	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34574322G>T	uc003ojr.2	-						C6orf106_uc003ojs.2_Intron	NM_024294	NP_077270			chromosome 6 open reading frame 106 isoform a											skin(2)|ovary(1)	3																		---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826075	34826075	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34826075T>C	uc003oju.3	+	14	2176	c.1942T>C	c.(1942-1944)TAT>CAT	p.Y648H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	648										ovary(3)	3																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34935065	34935065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34935065C>T	uc003ojx.3	+	2	389	c.247C>T	c.(247-249)CCC>TCC	p.P83S	ANKS1A_uc011dss.1_Missense_Mutation_p.P83S|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	83	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985579	34985579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34985579A>G	uc003ojx.3	+	11	1895	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.T125A|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	585						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
STK38	11329	broad.mit.edu	37	6	36465624	36465624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36465624C>T	uc003omg.2	-	11	1693	c.1105G>A	c.(1105-1107)GGA>AGA	p.G369R	STK38_uc003omh.2_Missense_Mutation_p.G369R|STK38_uc003omi.2_Missense_Mutation_p.G369R	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	369	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38256037	38256037	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38256037A>T	uc003ooa.3	-						BTBD9_uc003ony.3_Intron|BTBD9_uc010jwv.2_Intron|BTBD9_uc010jww.2_Intron|BTBD9_uc010jwx.2_Intron	NM_052893	NP_443125			BTB (POZ) domain containing 9 isoform a						cell adhesion						0																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38560367	38560367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38560367A>G	uc003ooa.3	-	5	1375	c.799T>C	c.(799-801)TAT>CAT	p.Y267H	BTBD9_uc003ony.3_Missense_Mutation_p.Y199H|BTBD9_uc010jwv.2_Missense_Mutation_p.Y199H|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.Y267H	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	267					cell adhesion						0																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38690609	38690609	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38690609C>T	uc003ooe.1	+	1					DNAH8_uc003ood.1_Silent_p.G8G	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38738194	38738194	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38738194C>T	uc003ooe.1	+	10	1572	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813476	38813476	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38813476G>T	uc003ooe.1	+	34	4921	c.4321G>T	c.(4321-4323)GGA>TGA	p.G1441*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38858521	38858521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38858521T>C	uc003ooe.1	+	56	8516	c.7916T>C	c.(7915-7917)CTG>CCG	p.L2639P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563911	39563911	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563911C>A	uc003oot.2	-	7	860	c.765G>T	c.(763-765)GAG>GAT	p.E255D	KIF6_uc010jxa.1_Missense_Mutation_p.E46D|KIF6_uc011dua.1_Missense_Mutation_p.E255D|KIF6_uc010jxb.1_Missense_Mutation_p.E255D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	255	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563941	39563941	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563941T>C	uc003oot.2	-	7	830	c.735A>G	c.(733-735)AAA>AAG	p.K245K	KIF6_uc010jxa.1_Silent_p.K36K|KIF6_uc011dua.1_Silent_p.K245K|KIF6_uc010jxb.1_Silent_p.K245K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	245	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39877611	39877611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39877611G>A	uc003opb.2	-	8	1208	c.1070C>T	c.(1069-1071)GCT>GTT	p.A357V	MOCS1_uc003opa.2_Missense_Mutation_p.A357V|MOCS1_uc003opc.2_Missense_Mutation_p.A357V|MOCS1_uc003opd.2_Missense_Mutation_p.A357V|MOCS1_uc003ope.2_Missense_Mutation_p.A270V	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39880039	39880039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39880039C>T	uc003opb.2	-	7	1088	c.950G>A	c.(949-951)CGC>CAC	p.R317H	MOCS1_uc003opa.2_Missense_Mutation_p.R317H|MOCS1_uc003opc.2_Missense_Mutation_p.R317H|MOCS1_uc003opd.2_Missense_Mutation_p.R317H|MOCS1_uc003ope.2_Missense_Mutation_p.R230H	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
UNC5CL	222643	broad.mit.edu	37	6	40996189	40996189	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40996189T>A	uc003opi.2	-	9	1569	c.1480A>T	c.(1480-1482)ACA>TCA	p.T494S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	494	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)															OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41613964	41613964	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41613964C>A	uc003oqp.3	+	4	506	c.177C>A	c.(175-177)ACC>ACA	p.T59T	MDFI_uc003oqq.3_Silent_p.T59T|MDFI_uc010jxn.2_Silent_p.T59T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	59					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41617445	41617445	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41617445G>T	uc003oqp.3	+	5	677	c.348G>T	c.(346-348)GCG>GCT	p.A116A	MDFI_uc003oqq.3_Silent_p.A116A|MDFI_uc010jxn.2_Silent_p.A116A	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	116					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773764	41773764	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773764C>T	uc003ori.2	-	4	1180	c.958G>A	c.(958-960)GAC>AAC	p.D320N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42225919	42225919	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42225919C>T	uc003osd.2	-	10	2853	c.2290G>A	c.(2290-2292)GTG>ATG	p.V764M	TRERF1_uc011duq.1_Missense_Mutation_p.V681M|TRERF1_uc003osb.2_Missense_Mutation_p.V520M|TRERF1_uc003osc.2_Missense_Mutation_p.V520M|TRERF1_uc003ose.2_Missense_Mutation_p.V784M	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	764	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42562040	42562040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42562040G>T	uc011dur.1	+	4	529	c.529G>T	c.(529-531)GAG>TAG	p.E177*	UBR2_uc003osf.2_Nonsense_Mutation_p.E177*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	177					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42603281	42603281	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42603281A>G	uc011dur.1	+	14	1671	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	UBR2_uc011dus.1_Silent_p.S202S|UBR2_uc010jxv.1_Silent_p.S61S|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	557					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42641876	42641876	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42641876A>C	uc011dur.1	+	38	4196	c.4196A>C	c.(4195-4197)AAT>ACT	p.N1399T	UBR2_uc011dus.1_Missense_Mutation_p.N1044T|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1399					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42647508	42647508	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42647508A>G	uc011dur.1	+	42	4656	c.4656A>G	c.(4654-4656)CTA>CTG	p.L1552L	UBR2_uc011dus.1_Silent_p.L1197L|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.L140L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1552					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
PPP2R5D	5528	broad.mit.edu	37	6	42975254	42975254	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42975254C>T	uc003oth.2	+						MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_Intron|PPP2R5D_uc003oti.2_Intron|PPP2R5D_uc003otj.2_Intron	NM_006245	NP_006236			delta isoform of regulatory subunit B56, protein						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43020464	43020464	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43020464A>G	uc003otq.2	-	2	366	c.63T>C	c.(61-63)TAT>TAC	p.Y21Y	CUL7_uc011dvb.1_Silent_p.Y73Y|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	21					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43022010	43022010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43022010T>C	uc003ots.1	-	7					CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034			mitochondrial ribosomal protein L2 precursor						translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)														---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43039057	43039057	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43039057A>G	uc003otv.1	+	9	1277	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Silent_p.T323T|KLC4_uc003otw.1_Silent_p.T418T|KLC4_uc003otx.1_Silent_p.T400T|KLC4_uc003oty.1_Silent_p.T400T|KLC4_uc003otz.1_Silent_p.T400T	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	400	TPR 6.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)															---	---	---	---
SRF	6722	broad.mit.edu	37	6	43146933	43146933	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43146933C>T	uc003oui.2	+	7					SRF_uc011dvf.1_3'UTR|CUL9_uc003ouj.1_5'Flank|CUL9_uc003ouk.2_5'Flank|CUL9_uc003oul.2_5'Flank|CUL9_uc010jyk.2_5'Flank	NM_003131	NP_003122			serum response factor (c-fos serum response						angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)															---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155142	43155142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155142C>T	uc003ouk.2	+	6	1621	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.P516S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	516					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155582	43155582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155582G>A	uc003ouk.2	+	7	1788	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K	CUL9_uc003ouj.1_Silent_p.K461K|CUL9_uc003oul.2_Silent_p.K571K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.K29K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	571					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43168555	43168555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43168555C>T	uc003ouk.2	+	16	3705	c.3630C>T	c.(3628-3630)CAC>CAT	p.H1210H	CUL9_uc003oul.2_Silent_p.H1210H|CUL9_uc010jyk.2_Silent_p.H362H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1210	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172842	43172842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43172842A>G	uc003ouk.2	+	23	4696	c.4621A>G	c.(4621-4623)ACT>GCT	p.T1541A	CUL9_uc003oul.2_Missense_Mutation_p.T1541A|CUL9_uc010jyk.2_Missense_Mutation_p.T693A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1541					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43226815	43226815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43226815G>A	uc003ouq.1	+	11	1335	c.1056G>A	c.(1054-1056)CGG>CGA	p.R352R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	352						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43237375	43237375	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43237375T>G	uc003ouq.1	+						TTBK1_uc011dvg.1_Intron	NM_032538	NP_115927			tau tubulin kinase 1							cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43406490	43406490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43406490A>G	uc003ouy.1	+	8	2299	c.2084A>G	c.(2083-2085)TAC>TGC	p.Y695C	ABCC10_uc003ouz.1_Missense_Mutation_p.Y667C|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	695	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
DLK2	65989	broad.mit.edu	37	6	43418614	43418614	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43418614A>G	uc003ova.2	-	6	1024	c.815T>C	c.(814-816)GTA>GCA	p.V272A	DLK2_uc003ovb.2_Missense_Mutation_p.V272A	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	272	Extracellular (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488739	43488739	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43488739A>T	uc003ovn.2	+	8	932	c.875A>T	c.(874-876)AAG>ATG	p.K292M	POLR1C_uc003ovo.1_Missense_Mutation_p.K292M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43541338	43541338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43541338A>T	uc003ovp.2	-	2	317	c.106T>A	c.(106-108)TTT>ATT	p.F36I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	36	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---
POLH	5429	broad.mit.edu	37	6	43581998	43581998	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43581998G>T	uc003ovq.3	+	11	2150	c.1846G>T	c.(1846-1848)GTG>TTG	p.V616L	POLH_uc010jyu.2_Missense_Mutation_p.V492L|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.V517L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	616					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)										DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				---	---	---	---
GTPBP2	54676	broad.mit.edu	37	6	43591810	43591810	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43591810A>G	uc003ovs.2	-						GTPBP2_uc010jyv.2_Intron|GTPBP2_uc003ovt.1_Intron	NM_019096	NP_061969			GTP binding protein 2								GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)															---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44121530	44121530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44121530C>T	uc003owr.2	+	21	2124	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	TMEM63B_uc003ows.2_Missense_Mutation_p.A590V|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	687	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)															---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216456	44216456	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44216456T>C	uc003oxa.1	+	2	174	c.90T>C	c.(88-90)AAT>AAC	p.N30N	HSP90AB1_uc011dvr.1_Silent_p.N30N|HSP90AB1_uc003oxb.1_Silent_p.N30N|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	30					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
NFKBIE	4794	broad.mit.edu	37	6	44229356	44229356	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44229356T>C	uc003oxe.1	-							NM_004556	NP_004547			nuclear factor of kappa light polypeptide gene						cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44271037	44271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44271037G>A	uc010jza.1	-	15	2134	c.2131C>T	c.(2131-2133)CGC>TGC	p.R711C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	711					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44279148	44279148	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44279148C>A	uc010jza.1	-	3	563	c.560G>T	c.(559-561)AGG>ATG	p.R187M	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	187					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44320601	44320601	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44320601C>A	uc003oxk.2	+	2	625	c.278C>A	c.(277-279)GCT>GAT	p.A93D	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	93										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371587	44371587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371587C>T	uc003oxl.2	+	6	840	c.581C>T	c.(580-582)GCT>GTT	p.A194V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	194	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45917038	45917038	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:45917038A>T	uc003oxv.3	-	3	837	c.731T>A	c.(730-732)GTC>GAC	p.V244D	CLIC5_uc003oxu.3_Missense_Mutation_p.V85D|CLIC5_uc003oxx.2_Missense_Mutation_p.V85D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	244					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2																		---	---	---	---
ENPP5	59084	broad.mit.edu	37	6	46129477	46129477	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46129477A>T	uc003oxz.1	-	4	1228	c.1020T>A	c.(1018-1020)GGT>GGA	p.G340G	ENPP5_uc003oya.1_Silent_p.G340G|ENPP5_uc011dvz.1_Silent_p.G246G|ENPP5_uc010jzc.1_Missense_Mutation_p.L342I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	340						extracellular region|integral to membrane	hydrolase activity				0																		---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658498	46658498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658498A>G	uc003oyj.2	+	1	2633	c.2633A>G	c.(2632-2634)CAG>CGG	p.Q878R	TDRD6_uc010jze.2_Missense_Mutation_p.Q872R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	878					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658994	46658994	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658994G>T	uc003oyj.2	+	1	3129	c.3129G>T	c.(3127-3129)AAG>AAT	p.K1043N	TDRD6_uc010jze.2_Missense_Mutation_p.K1037N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
PLA2G7	7941	broad.mit.edu	37	6	46690512	46690512	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46690512C>T	uc010jzf.2	-						PLA2G7_uc010jzg.1_Intron|PLA2G7_uc011dwd.1_Intron|PLA2G7_uc011dwe.1_Intron	NM_005084	NP_005075			phospholipase A2, group VII						inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46821794	46821794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46821794A>G	uc003oyo.3	-	21	4265	c.3976T>C	c.(3976-3978)TCC>CCC	p.S1326P	GPR116_uc011dwj.1_Missense_Mutation_p.S881P|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S1184P|GPR116_uc003oyq.3_Missense_Mutation_p.S1326P	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1326	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46827202	46827202	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46827202A>C	uc003oyo.3	-	17	2727	c.2438T>G	c.(2437-2439)GTT>GGT	p.V813G	GPR116_uc011dwj.1_Missense_Mutation_p.V368G|GPR116_uc011dwk.1_Missense_Mutation_p.V242G|GPR116_uc003oyp.3_Missense_Mutation_p.V671G|GPR116_uc003oyq.3_Missense_Mutation_p.V813G|GPR116_uc010jzi.1_Missense_Mutation_p.V485G	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	813	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46851907	46851907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46851907C>T	uc003oyo.3	-	5	719	c.430G>A	c.(430-432)GTC>ATC	p.V144I	GPR116_uc003oyp.3_Missense_Mutation_p.V144I|GPR116_uc003oyq.3_Missense_Mutation_p.V144I|GPR116_uc003oyr.2_Missense_Mutation_p.V144I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	144	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977420	46977420	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46977420A>G	uc003oyt.2	-	11	1950	c.1751T>C	c.(1750-1752)GTT>GCT	p.V584A	GPR110_uc011dwl.1_Missense_Mutation_p.V272A	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47254265	47254265	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47254265G>A	uc003oyv.2	-	2	596	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	55	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)															---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47675983	47675983	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47675983T>C	uc003oza.1	+	3	375	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GPR115_uc003oyz.1_Silent_p.P96P|GPR115_uc003ozb.1_Silent_p.P37P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	39	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8																		---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49676859	49676859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49676859T>C	uc003ozq.2	-	4	307	c.51A>G	c.(49-51)TTA>TTG	p.L17L	CRISP2_uc003ozl.2_Silent_p.L17L|CRISP2_uc003ozn.2_Silent_p.L17L|CRISP2_uc003ozr.2_Silent_p.L17L|CRISP2_uc003ozo.2_Silent_p.L17L|CRISP2_uc003ozm.2_Silent_p.L17L|CRISP2_uc003ozp.2_Silent_p.L17L	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	17						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50681799	50681799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50681799G>A	uc003paf.2	+	1	543	c.31G>A	c.(31-33)GAT>AAT	p.D11N	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	11							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50796364	50796364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50796364T>A	uc003pag.2	+	3	739	c.573T>A	c.(571-573)AAT>AAA	p.N191K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	191					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51619589	51619589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51619589C>T	uc003pah.1	-	56	9066	c.8790G>A	c.(8788-8790)CGG>CGA	p.R2930R	PKHD1_uc010jzn.1_Silent_p.R913R|PKHD1_uc003pai.2_Silent_p.R2930R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2930	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51897950	51897950	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1081C(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53134010	53134010	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53134010C>A	uc003pbq.1	-	8	1263	c.815G>T	c.(814-816)GGG>GTG	p.G272V	ELOVL5_uc003pbr.1_Missense_Mutation_p.G272V|ELOVL5_uc011dwx.1_Missense_Mutation_p.G299V|ELOVL5_uc003pbs.1_Missense_Mutation_p.W230C	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	272					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)																	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519830	53519830	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53519830T>G	uc003pcb.3	-	2	382	c.241A>C	c.(241-243)ACC>CCC	p.T81P		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)																	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53784454	53784454	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53784454A>C	uc003pcd.1	+	12	1542	c.1265A>C	c.(1264-1266)GAA>GCA	p.E422A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	422						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)														---	---	---	---
C6orf142	90523	broad.mit.edu	37	6	53989479	53989479	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53989479G>A	uc003pcg.3	+	3	541	c.428G>A	c.(427-429)AGC>AAC	p.S143N	C6orf142_uc003pcf.2_Missense_Mutation_p.S143N|C6orf142_uc003pch.3_Missense_Mutation_p.S81N|C6orf142_uc011dwz.1_Missense_Mutation_p.S102N|C6orf142_uc011dxa.1_Missense_Mutation_p.S154N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	143						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)																	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806068	54806068	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54806068T>G	uc003pck.2	+	5	2415	c.2299T>G	c.(2299-2301)TTT>GTT	p.F767V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	767										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044520	56044520	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56044520A>G	uc003pcs.2	-	3	728	c.496T>C	c.(496-498)TTT>CTT	p.F166L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F166L|COL21A1_uc003pcu.1_Missense_Mutation_p.F166L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	166	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---
DST	667	broad.mit.edu	37	6	56354379	56354379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56354379T>C	uc003pdf.2	-	80	14457	c.14429A>G	c.(14428-14430)GAG>GGG	p.E4810G	DST_uc003pcz.3_Missense_Mutation_p.E4632G|DST_uc011dxj.1_Missense_Mutation_p.E4661G|DST_uc011dxk.1_Missense_Mutation_p.E4672G|DST_uc003pcy.3_Missense_Mutation_p.E4306G|DST_uc003pda.3_Missense_Mutation_p.E2G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6718	Spectrin 18.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56362299	56362299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56362299C>A	uc003pdf.2	-	76	13772	c.13744G>T	c.(13744-13746)GGG>TGG	p.G4582W	DST_uc003pcz.3_Missense_Mutation_p.G4404W|DST_uc011dxj.1_Missense_Mutation_p.G4433W|DST_uc011dxk.1_Missense_Mutation_p.G4444W|DST_uc003pcy.3_Missense_Mutation_p.G4078W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6490	Spectrin 16.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56417167	56417167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56417167T>C	uc003pdf.2	-	55	10094	c.10066A>G	c.(10066-10068)AAG>GAG	p.K3356E	DST_uc003pcz.3_Missense_Mutation_p.K3178E|DST_uc011dxj.1_Missense_Mutation_p.K3207E|DST_uc011dxk.1_Missense_Mutation_p.K3218E|DST_uc003pcy.3_Missense_Mutation_p.K2852E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56437713	56437713	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56437713A>G	uc003pdf.2	-	46	7057	c.7029T>C	c.(7027-7029)AGT>AGC	p.S2343S	DST_uc003pcz.3_Silent_p.S2165S|DST_uc011dxj.1_Silent_p.S2194S|DST_uc011dxk.1_Silent_p.S2205S|DST_uc003pcy.3_Silent_p.S1839S|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56483403	56483403	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56483403T>A	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.Y1810F	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56819348	56819348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56819348T>C	uc003pdf.2	-	1	66	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
BEND6	221336	broad.mit.edu	37	6	56880075	56880075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56880075G>A	uc010kab.2	+	4	1029	c.443G>A	c.(442-444)TGC>TAC	p.C148Y	BEND6_uc003pdi.3_Missense_Mutation_p.C50Y	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	148											0																		---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918985	56918985	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56918985C>A	uc003pdj.2	+	4	1858	c.1688C>A	c.(1687-1689)GCT>GAT	p.A563D	KIAA1586_uc011dxm.1_Missense_Mutation_p.A536D	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	563							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57015643	57015643	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:57015643T>C	uc003pdm.1	+	11	2959	c.2735T>C	c.(2734-2736)TTT>TCT	p.F912S	ZNF451_uc003pdl.2_Missense_Mutation_p.F912S|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.F912S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990621	63990621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63990621C>T	uc003peh.2	-	4	869	c.835G>A	c.(835-837)GCT>ACT	p.A279T	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	279					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995646	63995646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63995646T>C	uc003peh.2	-	3	210	c.176A>G	c.(175-177)GAC>GGC	p.D59G	LGSN_uc003pei.2_Missense_Mutation_p.D59G|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	59					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64286857	64286857	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64286857T>A	uc003pek.2	+	4	1058	c.72T>A	c.(70-72)AAT>AAA	p.N24K	PTP4A1_uc003pel.2_Missense_Mutation_p.N24K	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	24					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422823	64422823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64422823T>A	uc003pep.1	+	15	5365	c.5339T>A	c.(5338-5340)ATC>AAC	p.I1780N	PHF3_uc003pen.2_Missense_Mutation_p.I1692N|PHF3_uc011dxs.1_Missense_Mutation_p.I1049N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1780					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---
EYS	346007	broad.mit.edu	37	6	66094267	66094267	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66094267T>C	uc011dxu.1	-						EYS_uc003peq.2_Intron|EYS_uc003per.1_Intron	NM_001142800	NP_001136272			eyes shut homolog isoform 1						response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115115	66115115	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66115115A>G	uc011dxu.1	-	6	1546	c.1008T>C	c.(1006-1008)TTT>TTC	p.F336F	EYS_uc003peq.2_Silent_p.F336F|EYS_uc003per.1_Silent_p.F336F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	336	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703697	69703697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69703697C>T	uc003pev.3	+	11	2220	c.1772C>T	c.(1771-1773)GCA>GTA	p.A591V	BAI3_uc010kak.2_Missense_Mutation_p.A591V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	591	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
BAI3	577	broad.mit.edu	37	6	69758078	69758078	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69758078G>C	uc003pev.3	+	14	2557	c.2109G>C	c.(2107-2109)GTG>GTC	p.V703V	BAI3_uc010kak.2_Silent_p.V703V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	703	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
BAI3	577	broad.mit.edu	37	6	70064145	70064145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70064145C>T	uc003pev.3	+	27	3928	c.3480C>T	c.(3478-3480)TGC>TGT	p.C1160C	BAI3_uc010kak.2_Silent_p.C1160C|BAI3_uc011dxx.1_Silent_p.C366C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1160	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70409017	70409017	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70409017A>G	uc003pfa.2	-	13	1371	c.1256T>C	c.(1255-1257)CTT>CCT	p.L419P	LMBRD1_uc003pey.2_Missense_Mutation_p.L215P|LMBRD1_uc003pez.2_Missense_Mutation_p.L346P|LMBRD1_uc010kal.2_Missense_Mutation_p.L346P|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	419	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70428954	70428954	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70428954A>G	uc003pfa.2	-	8	771	c.656T>C	c.(655-657)TTA>TCA	p.L219S	LMBRD1_uc003pey.2_Missense_Mutation_p.L15S|LMBRD1_uc003pez.2_Missense_Mutation_p.L146S|LMBRD1_uc010kal.2_Missense_Mutation_p.L146S|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	219	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70462228	70462228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70462228A>G	uc003pfa.2	-	4	443	c.328T>C	c.(328-330)TTC>CTC	p.F110L	LMBRD1_uc003pez.2_Missense_Mutation_p.F37L|LMBRD1_uc010kal.2_Missense_Mutation_p.F37L|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	110	Helical; Name=3; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70744135	70744135	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70744135A>C	uc003pfc.1	+	13	1198	c.1081_splice	c.e13-2	p.G361_splice	COL19A1_uc010kam.1_Splice_Site_p.G257_splice	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
B3GAT2	135152	broad.mit.edu	37	6	71603827	71603827	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71603827T>C	uc003pfv.2	-						B3GAT2_uc011dxz.1_Intron|B3GAT2_uc003pfw.2_Intron	NM_080742	NP_542780			beta-1,3-glucuronyltransferase 2						carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
OGFRL1	79627	broad.mit.edu	37	6	72006048	72006048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72006048A>G	uc003pfx.1	+	4	592	c.429A>G	c.(427-429)AAA>AAG	p.K143K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	143						membrane	receptor activity				0																		---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72960976	72960976	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72960976A>G	uc003pga.2	+	15	2680	c.2603A>G	c.(2602-2604)CAG>CGG	p.Q868R	RIMS1_uc011dyb.1_Missense_Mutation_p.Q494R|RIMS1_uc003pgc.2_Missense_Mutation_p.Q494R|RIMS1_uc010kaq.2_Missense_Mutation_p.Q342R|RIMS1_uc011dyc.1_Missense_Mutation_p.Q342R|RIMS1_uc010kar.2_Missense_Mutation_p.Q261R|RIMS1_uc011dyd.1_Missense_Mutation_p.Q327R|RIMS1_uc003pgf.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgg.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgi.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgh.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgd.2_Missense_Mutation_p.Q85R|RIMS1_uc003pge.2_Missense_Mutation_p.Q85R|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Q494R|RIMS1_uc010kas.1_Missense_Mutation_p.Q327R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	868					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904299	73904299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904299C>T	uc003pgk.2	+	14	2308	c.1961C>T	c.(1960-1962)ACA>ATA	p.T654I	KCNQ5_uc011dyh.1_Missense_Mutation_p.T673I|KCNQ5_uc011dyi.1_Missense_Mutation_p.T664I|KCNQ5_uc010kat.2_Missense_Mutation_p.T645I|KCNQ5_uc011dyj.1_Missense_Mutation_p.T544I|KCNQ5_uc011dyk.1_Missense_Mutation_p.T404I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	654					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904338	73904338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904338C>T	uc003pgk.2	+	14	2347	c.2000C>T	c.(1999-2001)TCG>TTG	p.S667L	KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	667					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904905	73904905	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904905G>A	uc003pgk.2	+	14	2914	c.2567G>A	c.(2566-2568)GGC>GAC	p.G856D	KCNQ5_uc011dyh.1_Missense_Mutation_p.G875D|KCNQ5_uc011dyi.1_Missense_Mutation_p.G866D|KCNQ5_uc010kat.2_Missense_Mutation_p.G847D|KCNQ5_uc011dyj.1_Missense_Mutation_p.G746D|KCNQ5_uc011dyk.1_Missense_Mutation_p.G606D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	856					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74107473	74107473	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74107473C>T	uc003pgw.2	+						OOEP_uc003pgv.3_5'Flank|DDX43_uc011dyn.1_Intron	NM_018665	NP_061135			DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4																		---	---	---	---
MTO1	25821	broad.mit.edu	37	6	74210336	74210336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74210336G>A	uc003pgy.3	+	13	2156	c.2032G>A	c.(2032-2034)GCC>ACC	p.A678T	MTO1_uc010kav.2_Missense_Mutation_p.A693T|MTO1_uc003pgz.3_Missense_Mutation_p.A653T|MTO1_uc003pha.3_Missense_Mutation_p.A315T|MTO1_uc003phb.3_Missense_Mutation_p.A604T	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	678					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74476735	74476735	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74476735T>C	uc003php.2	+	13	1922	c.1497_splice	c.e13+2	p.M499_splice	CD109_uc010kaz.2_Splice_Site_p.M499_splice|CD109_uc003phq.2_Splice_Site_p.M499_splice|CD109_uc010kba.2_Splice_Site_p.M422_splice	NM_133493	NP_598000			CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74481262	74481262	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74481262T>C	uc003php.2	+	15	2210	c.1785T>C	c.(1783-1785)AGT>AGC	p.S595S	CD109_uc010kaz.2_Silent_p.S595S|CD109_uc003phq.2_Silent_p.S595S|CD109_uc010kba.2_Silent_p.S518S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	595	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75827138	75827138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75827138T>C	uc003phs.2	-	47	7645	c.7479A>G	c.(7477-7479)GAA>GAG	p.E2493E	COL12A1_uc003pht.2_Silent_p.E1329E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2493	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75833968	75833968	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75833968T>A	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75853014	75853014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75853014C>T	uc003phs.2	-	26	4947	c.4781G>A	c.(4780-4782)CGT>CAT	p.R1594H	COL12A1_uc003pht.2_Missense_Mutation_p.R430H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1594	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75884990	75884990	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75884990G>T	uc003phs.2	-	13	2640	c.2474C>A	c.(2473-2475)CCT>CAT	p.P825H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	825	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75898176	75898176	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75898176G>A	uc003phs.2	-	8	1065	c.899C>T	c.(898-900)GCC>GTC	p.A300V	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	300	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023662	76023662	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76023662A>G	uc003pia.2	-	5	2259	c.1886T>C	c.(1885-1887)ATT>ACT	p.I629T	FILIP1_uc003phy.1_Missense_Mutation_p.I629T|FILIP1_uc003phz.2_Missense_Mutation_p.I530T|FILIP1_uc010kbe.2_Missense_Mutation_p.I632T|FILIP1_uc003pib.1_Missense_Mutation_p.I381T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	629	Potential.									skin(3)|ovary(1)	4																		---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76545675	76545675	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76545675T>C	uc003pih.1	+	7	832	c.553_splice	c.e7+2	p.A185_splice	MYO6_uc003pig.1_Splice_Site_p.A185_splice|MYO6_uc003pii.1_Splice_Site_p.A185_splice	NM_004999	NP_004990			myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76617407	76617407	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76617407A>G	uc003pih.1	+	31	3541	c.3262A>G	c.(3262-3264)ACC>GCC	p.T1088A	MYO6_uc003pig.1_Missense_Mutation_p.T1065A|MYO6_uc003pii.1_Missense_Mutation_p.T1065A|MYO6_uc003pij.1_Missense_Mutation_p.T45A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1097					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76657071	76657071	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76657071G>A	uc003pik.1	-	14	2134	c.2004C>T	c.(2002-2004)CTC>CTT	p.L668L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	668	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715197	76715197	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76715197T>G	uc003pik.1	-	10	1072	c.942A>C	c.(940-942)GAA>GAC	p.E314D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	314	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76734953	76734953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76734953T>C	uc003pik.1	-	5	650	c.520A>G	c.(520-522)AAG>GAG	p.K174E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	174					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
SH3BGRL2	83699	broad.mit.edu	37	6	80409210	80409210	+	Intron	SNP	T	A	A	rs35728679		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80409210T>A	uc003piz.1	+							NM_031469	NP_113657			SH3 domain binding glutamic acid-rich protein							nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)														---	---	---	---
BCKDHB	594	broad.mit.edu	37	6	80816557	80816557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80816557G>A	uc003pjd.2	+	1	214	c.147G>A	c.(145-147)CGG>CGA	p.R49R	BCKDHB_uc003pje.2_Silent_p.R49R	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	49					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)														---	---	---	---
UBE2CBP	90025	broad.mit.edu	37	6	83732251	83732251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83732251T>C	uc003pjp.2	-	7	875	c.767A>G	c.(766-768)CAG>CGG	p.Q256R	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.Q46R	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	256	Interaction with UBE2C.					cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83818737	83818737	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83818737T>A	uc003pjs.1	+	5	689	c.429T>A	c.(427-429)GGT>GGA	p.G143G	DOPEY1_uc011dyy.1_Silent_p.G143G|DOPEY1_uc010kbl.1_Silent_p.G143G	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	143					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83823030	83823030	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83823030C>T	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83830457	83830457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83830457A>G	uc003pjs.1	+	10	1306	c.1046A>G	c.(1045-1047)CAG>CGG	p.Q349R	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q340R|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q340R	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	349					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83848231	83848231	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83848231A>G	uc003pjs.1	+	21	4730	c.4470A>G	c.(4468-4470)ATA>ATG	p.I1490M	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1481M|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1481M|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1490					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83863667	83863667	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83863667T>C	uc003pjs.1	+	32	6554	c.6294T>C	c.(6292-6294)AGT>AGC	p.S2098S	DOPEY1_uc011dyy.1_Silent_p.S2089S|DOPEY1_uc010kbl.1_Silent_p.S2089S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2098					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
PGM3	5238	broad.mit.edu	37	6	83888390	83888390	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83888390A>G	uc003pjv.2	-	8	1069	c.1029_splice	c.e8+1	p.K343_splice	PGM3_uc003pjw.2_Splice_Site_p.K262_splice|PGM3_uc011dyz.1_Splice_Site_p.K371_splice	NM_015599	NP_056414			phosphoglucomutase 3						dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)														---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84799100	84799100	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84799100A>G	uc003pkg.3	+	4	708	c.518A>G	c.(517-519)GAC>GGC	p.D173G	MRAP2_uc010kbo.2_Missense_Mutation_p.D87G	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	173					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2																		---	---	---	---
KIAA1009	22832	broad.mit.edu	37	6	84910585	84910585	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84910585T>C	uc010kbp.2	-	9	854	c.757A>G	c.(757-759)AAT>GAT	p.N253D	KIAA1009_uc003pkj.3_Missense_Mutation_p.N177D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N253D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	253					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)														---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446856	85446856	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85446856A>G	uc003pkl.1	-	8	1371	c.1371T>C	c.(1369-1371)TAT>TAC	p.Y457Y	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86267737	86267737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86267737T>C	uc003pkr.2	-	7	784	c.591A>G	c.(589-591)GCA>GCG	p.A197A	SNX14_uc003pkp.2_Silent_p.A60A|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.A145A|SNX14_uc003pks.2_Silent_p.A153A|SNX14_uc003pkt.2_Silent_p.A197A	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	197	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)														---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86281934	86281934	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86281934C>A	uc003pkr.2	-	4	532	c.339_splice	c.e4-1	p.R113_splice	SNX14_uc003pkq.2_Splice_Site|SNX14_uc011dzg.1_Splice_Site_p.R61_splice|SNX14_uc003pks.2_Splice_Site_p.R113_splice|SNX14_uc003pkt.2_Splice_Site_p.R113_splice	NM_153816	NP_722523			sorting nexin 14 isoform a						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)														---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86329028	86329028	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86329028A>T	uc003pla.2	-	9	1657	c.1116T>A	c.(1114-1116)GAT>GAA	p.D372E	SYNCRIP_uc003pku.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D337E|SYNCRIP_uc003pky.2_Missense_Mutation_p.D274E|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D220E|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D337E	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	372	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)														---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965271	87965271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87965271T>G	uc003plm.3	+	8	1965	c.1924T>G	c.(1924-1926)TCA>GCA	p.S642A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88227990	88227990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88227990A>G	uc003pme.2	-						RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron	NM_020320	NP_064716			arginyl-tRNA synthetase 2, mitochondrial						arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)														---	---	---	---
ORC3L	23595	broad.mit.edu	37	6	88367632	88367632	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88367632T>A	uc003pmh.2	+						ORC3L_uc011dzn.1_Intron|ORC3L_uc003pmg.2_Intron|ORC3L_uc003pmi.2_Intron|ORC3L_uc011dzo.1_Intron|ORC3L_uc011dzp.1_Intron	NM_012381	NP_036513			origin recognition complex, subunit 3 isoform 2						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88385594	88385594	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88385594T>C	uc003pmk.2	-	4	1168	c.585A>G	c.(583-585)GGA>GGG	p.G195G		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	195					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88387678	88387678	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88387678T>C	uc003pmk.2	-	3	970	c.387A>G	c.(385-387)TCA>TCG	p.S129S		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	129					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853779	88853779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88853779T>C	uc011dzq.1	-	2	4778	c.1215A>G	c.(1213-1215)CGA>CGG	p.R405R	CNR1_uc010kbz.2_Silent_p.R405R|CNR1_uc011dzr.1_Silent_p.R405R|CNR1_uc011dzs.1_Silent_p.R405R|CNR1_uc003pmq.3_Silent_p.R405R|CNR1_uc011dzt.1_Silent_p.R405R|CNR1_uc010kca.2_Silent_p.R372R	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	405	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888794	89888794	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89888794A>T	uc003pna.2	-						GABRR1_uc011dzv.1_Intron	NM_002042	NP_002033			gamma-aminobutyric acid (GABA) receptor, rho 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89890057	89890057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89890057T>C	uc003pna.2	-	9	1555	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GABRR1_uc011dzv.1_Missense_Mutation_p.Y344C	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	367	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372614	90372614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372614T>C	uc003pnn.1	-	86	14425	c.14309A>G	c.(14308-14310)GAA>GGA	p.E4770G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4770					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372634	90372634	+	Missense_Mutation	SNP	C	T	T	rs116035185	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372634C>T	uc003pnn.1	-	86	14405	c.14289G>A	c.(14287-14289)ATG>ATA	p.M4763I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4763					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410395	90410395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410395T>C	uc003pnn.1	-	56	8724	c.8608A>G	c.(8608-8610)AGA>GGA	p.R2870G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2870					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410508	90410508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410508T>C	uc003pnn.1	-	56	8611	c.8495A>G	c.(8494-8496)CAG>CGG	p.Q2832R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2832					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90482319	90482319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90482319T>C	uc003pnn.1	-	14	2172	c.2056A>G	c.(2056-2058)ACC>GCC	p.T686A	MDN1_uc003pno.1_Missense_Mutation_p.T104A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	686					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90491146	90491146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90491146T>C	uc003pnn.1	-	10	1731	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.T539A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90494776	90494776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90494776C>A	uc003pnn.1	-	9	1520	c.1404G>T	c.(1402-1404)TGG>TGT	p.W468C	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.W468C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	468					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90571956	90571956	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90571956G>T	uc003pnr.2	+	7	724	c.528G>T	c.(526-528)AAG>AAT	p.K176N	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K176N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K176N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	176					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90577062	90577062	+	Silent	SNP	C	T	T	rs147437828	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90578332	90578332	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90578332A>G	uc003pnr.2	+	8	5519	c.5323A>G	c.(5323-5325)AAG>GAG	p.K1775E	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1775E|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1775E	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1775	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90642371	90642371	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90642371G>A	uc011eab.1	-	9	3091	c.2282C>T	c.(2281-2283)GCA>GTA	p.A761V	BACH2_uc003pnw.2_Missense_Mutation_p.A761V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	761						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661298	90661298	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661298G>A	uc011eab.1	-	7	1336	c.527C>T	c.(526-528)GCC>GTC	p.A176V	BACH2_uc003pnw.2_Missense_Mutation_p.A176V|BACH2_uc010kch.2_Missense_Mutation_p.A176V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	176						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661318	90661318	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661318C>T	uc011eab.1	-	7	1316	c.507G>A	c.(505-507)GAG>GAA	p.E169E	BACH2_uc003pnw.2_Silent_p.E169E|BACH2_uc010kch.2_Silent_p.E169E	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	169	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226365	91226365	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91226365T>C	uc003pnz.1	-	17	1838	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	MAP3K7_uc003pny.1_Missense_Mutation_p.K96R|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.K532R|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	559					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91233425	91233425	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91233425A>T	uc003pnz.1	-	14	1596	c.1434T>A	c.(1432-1434)AGT>AGA	p.S478R	MAP3K7_uc003pny.1_Missense_Mutation_p.S15R|MAP3K7_uc003poa.1_Missense_Mutation_p.S478R|MAP3K7_uc003pob.1_Missense_Mutation_p.S451R|MAP3K7_uc003poc.1_Missense_Mutation_p.S451R	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	478					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91260185	91260185	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91260185A>T	uc003pnz.1	-	9	1111	c.949_splice	c.e9+1	p.G317_splice	MAP3K7_uc003poa.1_Splice_Site_p.G317_splice|MAP3K7_uc003pob.1_Splice_Site_p.G317_splice|MAP3K7_uc003poc.1_Splice_Site_p.G317_splice	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91266208	91266208	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91266208T>A	uc003pnz.1	-						MAP3K7_uc003poa.1_Intron|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651601	96651601	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96651601C>T	uc003pop.3	+	3	911	c.570C>T	c.(568-570)TGC>TGT	p.C190C		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	190	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)														---	---	---	---
KIAA0776	23376	broad.mit.edu	37	6	96986536	96986536	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96986536A>C	uc003por.2	+	10	1056	c.1008A>C	c.(1006-1008)GAA>GAC	p.E336D	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	336					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97634560	97634560	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97634560C>T	uc003ppb.2	-	15	2312	c.2046G>A	c.(2044-2046)ATG>ATA	p.M682I	C6orf167_uc011eaf.1_Missense_Mutation_p.M642I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	682					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---
C6orf168	84553	broad.mit.edu	37	6	99729068	99729068	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99729068T>A	uc003ppj.3	-	6	1485	c.1202A>T	c.(1201-1203)GAC>GTC	p.D401V	C6orf168_uc003ppi.3_Missense_Mutation_p.D121V	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99849264	99849264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99849264T>C	uc003ppo.3	-	12	1798	c.1570A>G	c.(1570-1572)ACT>GCT	p.T524A	SFRS18_uc003ppl.2_Missense_Mutation_p.T70A|SFRS18_uc003ppp.3_Missense_Mutation_p.T524A|SFRS18_uc011eag.1_Missense_Mutation_p.T524A	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	524	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99862500	99862500	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99862500C>A	uc003ppo.3	-	3	264	c.36G>T	c.(34-36)TGG>TGT	p.W12C	SFRS18_uc003ppp.3_Missense_Mutation_p.W12C|SFRS18_uc011eag.1_Missense_Mutation_p.W12C|SFRS18_uc003ppr.2_Missense_Mutation_p.W12C|SFRS18_uc003ppt.2_Missense_Mutation_p.W12C|SFRS18_uc003pps.2_Missense_Mutation_p.W12C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	12	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841584	100841584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100841584G>A	uc003pqj.3	-	10	1556	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	SIM1_uc010kcu.2_Missense_Mutation_p.A450V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101073063	101073063	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101073063C>A	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101090637	101090637	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101090637T>C	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101099511	101099511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101099511T>C	uc003pqk.2	-	19	3329	c.3000A>G	c.(2998-3000)GAA>GAG	p.E1000E	ASCC3_uc011eai.1_Silent_p.E902E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1000	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296112	101296112	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296112A>G	uc003pqk.2	-	4	1042	c.713T>C	c.(712-714)ATG>ACG	p.M238T	ASCC3_uc011eai.1_Missense_Mutation_p.M140T|ASCC3_uc003pql.2_Missense_Mutation_p.M238T|ASCC3_uc010kcv.2_Missense_Mutation_p.M238T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296277	101296277	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296277G>T	uc003pqk.2	-	4	877	c.548C>A	c.(547-549)CCA>CAA	p.P183Q	ASCC3_uc011eai.1_Missense_Mutation_p.P85Q|ASCC3_uc003pql.2_Missense_Mutation_p.P183Q|ASCC3_uc010kcv.2_Missense_Mutation_p.P183Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105606454	105606454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105606454T>C	uc003prb.2	-	4	1169	c.767A>G	c.(766-768)TAT>TGT	p.Y256C	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	256						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)																---	---	---	---
PREP	5550	broad.mit.edu	37	6	105736671	105736671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105736671G>A	uc003prc.2	-	11	1619	c.1416C>T	c.(1414-1416)GGC>GGT	p.G472G		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	472					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---
AIM1	202	broad.mit.edu	37	6	106968337	106968337	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106968337C>T	uc003prh.2	+	2	2517	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	677							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---
RTN4IP1	84816	broad.mit.edu	37	6	107050795	107050795	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107050795A>G	uc003prj.2	-	5	1100	c.623T>C	c.(622-624)GTT>GCT	p.V208A	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.V108A	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	208						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)														---	---	---	---
QRSL1	55278	broad.mit.edu	37	6	107096961	107096961	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107096961T>A	uc003prm.2	+	5	558	c.442T>A	c.(442-444)TAT>AAT	p.Y148N	QRSL1_uc003prl.2_Missense_Mutation_p.Y148N	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	148					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)														---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108067978	108067978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108067978G>A	uc010kdf.2	-	4	653	c.402C>T	c.(400-402)GCC>GCT	p.A134A	SCML4_uc003prz.3_Silent_p.A76A|SCML4_uc011eam.1_Silent_p.A134A|SCML4_uc003psa.3_Silent_p.A105A	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108246125	108246125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108246125A>G	uc003psc.3	-	3	505	c.236T>C	c.(235-237)CTG>CCG	p.L79P		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	79	Helical; (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
OSTM1	28962	broad.mit.edu	37	6	108395540	108395540	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108395540C>T	uc003psd.2	-	1	402	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	106	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109282770	109282770	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109282770T>C	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109315666	109315666	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109315666T>C	uc003pst.3	-	6	1034	c.942A>G	c.(940-942)TCA>TCG	p.S314S	SESN1_uc003psu.2_Silent_p.S373S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	314					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)														---	---	---	---
C6orf182	285753	broad.mit.edu	37	6	109484127	109484127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109484127A>G	uc010kdk.2	+	13	1914	c.1337A>G	c.(1336-1338)AAT>AGT	p.N446S	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.N446S|C6orf182_uc003psy.3_Missense_Mutation_p.N446S	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	446						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)														---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109748083	109748083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109748083G>A	uc003ptg.3	-	5	652	c.598C>T	c.(598-600)CGA>TGA	p.R200*	PPIL6_uc010kdo.2_Nonsense_Mutation_p.R168*|PPIL6_uc010kdp.2_Nonsense_Mutation_p.R200*	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	200	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)														---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109803146	109803146	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109803146C>A	uc003ptl.1	-	2	252	c.84G>T	c.(82-84)GAG>GAT	p.E28D	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.E28D|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.E28D	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	28	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)														---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109854523	109854523	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109854523C>G	uc003ptn.2	-	28	3578	c.3501G>C	c.(3499-3501)AAG>AAC	p.K1167N	AKD1_uc011eat.1_Missense_Mutation_p.K246N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1167					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109867248	109867248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109867248T>C	uc003ptn.2	-	26	3124	c.3047A>G	c.(3046-3048)AAC>AGC	p.N1016S	AKD1_uc011eat.1_Missense_Mutation_p.N95S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1016					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109871475	109871475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109871475G>A	uc003ptn.2	-	25	2859	c.2782C>T	c.(2782-2784)CAT>TAT	p.H928Y	AKD1_uc011eat.1_Missense_Mutation_p.H7Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	928					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300428	110300428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300428C>T	uc011eaw.1	+	2	293	c.113C>T	c.(112-114)CCC>CTC	p.P38L	GPR6_uc011eav.1_Missense_Mutation_p.P53L|GPR6_uc003ptu.2_Missense_Mutation_p.P38L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	38	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300509	110300509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300509C>T	uc011eaw.1	+	2	374	c.194C>T	c.(193-195)CCG>CTG	p.P65L	GPR6_uc011eav.1_Missense_Mutation_p.P80L|GPR6_uc003ptu.2_Missense_Mutation_p.P65L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	65	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300639	110300639	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300639C>T	uc011eaw.1	+	2	504	c.324C>T	c.(322-324)TTC>TTT	p.F108F	GPR6_uc011eav.1_Silent_p.F123F|GPR6_uc003ptu.2_Silent_p.F108F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	108	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110768070	110768070	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110768070A>G	uc003puf.2	-						SLC22A16_uc003pue.2_Intron	NM_033125	NP_149116			solute carrier family 22, member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110777921	110777921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110777921C>T	uc003puf.2	-	2	420	c.353G>A	c.(352-354)GGC>GAC	p.G118D	SLC22A16_uc003pue.2_Missense_Mutation_p.G99D|SLC22A16_uc003pug.2_Missense_Mutation_p.G118D	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	118					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
AMD1	262	broad.mit.edu	37	6	111213504	111213504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111213504A>G	uc003puk.1	+	6	795	c.473A>G	c.(472-474)TAC>TGC	p.Y158C	AMD1_uc011eay.1_Missense_Mutation_p.Y89C|AMD1_uc011eaz.1_Missense_Mutation_p.Y129C|AMD1_uc011eba.1_Missense_Mutation_p.Y38C|AMD1_uc003pul.1_Missense_Mutation_p.Y10C	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	158					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)													---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111585063	111585063	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111585063T>C	uc003puv.3	+	3	649	c.227T>C	c.(226-228)CTT>CCT	p.L76P		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	76	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)														---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111694279	111694279	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111694279T>A	uc003puy.3	-	13	5602	c.5279A>T	c.(5278-5280)GAT>GTT	p.D1760V	REV3L_uc003pux.3_Missense_Mutation_p.D1682V|REV3L_uc003puz.3_Missense_Mutation_p.D1682V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1760					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696103	111696103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696103C>T	uc003puy.3	-	13	3778	c.3455G>A	c.(3454-3456)GGT>GAT	p.G1152D	REV3L_uc003pux.3_Missense_Mutation_p.G1074D|REV3L_uc003puz.3_Missense_Mutation_p.G1074D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1152					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696362	111696362	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696362T>C	uc003puy.3	-	13	3519	c.3196A>G	c.(3196-3198)AAT>GAT	p.N1066D	REV3L_uc003pux.3_Missense_Mutation_p.N988D|REV3L_uc003puz.3_Missense_Mutation_p.N988D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1066					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726841	111726841	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726841A>T	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726843	111726843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726843A>G	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
FYN	2534	broad.mit.edu	37	6	112041137	112041137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112041137G>A	uc003pvj.2	-	3	458	c.118C>T	c.(118-120)CCC>TCC	p.P40S	FYN_uc003pvi.2_Missense_Mutation_p.P40S|FYN_uc003pvk.2_Missense_Mutation_p.P40S|FYN_uc003pvh.2_Missense_Mutation_p.P40S	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	40					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)													---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114267237	114267237	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114267237A>T	uc003pwd.1	-	9	1199	c.1199T>A	c.(1198-1200)ATC>AAC	p.I400N	HDAC2_uc003pwc.1_Missense_Mutation_p.I276N|HDAC2_uc003pwe.1_Missense_Mutation_p.I276N	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)													---	---	---	---
DSE	29940	broad.mit.edu	37	6	116758204	116758204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116758204A>G	uc003pws.2	+	6	2767	c.2573A>G	c.(2572-2574)GAC>GGC	p.D858G	DSE_uc011ebg.1_Missense_Mutation_p.D877G|DSE_uc003pwt.2_Missense_Mutation_p.D858G|DSE_uc003pwu.2_Missense_Mutation_p.D525G	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	858					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)														---	---	---	---
ZUFSP	221302	broad.mit.edu	37	6	116987885	116987885	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116987885T>C	uc003pxf.1	-	2	717	c.471A>G	c.(469-471)CCA>CCG	p.P157P	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	157	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)														---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117019870	117019870	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117019870C>A	uc003pxh.2	+	5	475	c.344C>A	c.(343-345)CCT>CAT	p.P115H		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	112	ARM 1; truncated.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)														---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117113550	117113550	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117113550T>C	uc003pxj.1	-	6	2558	c.2536A>G	c.(2536-2538)AAG>GAG	p.K846E	GPRC6A_uc003pxk.1_Missense_Mutation_p.K671E|GPRC6A_uc003pxl.1_Missense_Mutation_p.K775E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	846	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)														---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237196	117237196	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237196A>G	uc003pxm.2	+	8	869	c.806A>G	c.(805-807)AAA>AGA	p.K269R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	269					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117700211	117700211	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117700211A>G	uc003pxp.1	-						ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935			proto-oncogene c-ros-1 protein precursor						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117715341	117715341	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117715341A>G	uc003pxp.1	-	10	1347	c.1148T>C	c.(1147-1149)TTC>TCC	p.F383S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	383	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ASF1A	25842	broad.mit.edu	37	6	119221946	119221946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119221946T>C	uc011ebn.1	+	2	462	c.125T>C	c.(124-126)ATT>ACT	p.I42T		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	42	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119341193	119341193	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119341193T>G	uc003pyj.2	-	4	1630	c.1282A>C	c.(1282-1284)ACC>CCC	p.T428P	FAM184A_uc003pyk.3_Missense_Mutation_p.T308P|FAM184A_uc003pyl.3_Missense_Mutation_p.T308P	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	428	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
C6orf170	221322	broad.mit.edu	37	6	121452891	121452891	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121452891A>T	uc003pyo.1	-	25	2849	c.2781T>A	c.(2779-2781)GAT>GAA	p.D927E	C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_Missense_Mutation_p.D26E|C6orf170_uc003pyp.1_Missense_Mutation_p.D487E	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	927					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)														---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768523	121768523	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768523A>G	uc003pyr.2	+	2	780	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	GJA1_uc011ebo.1_Missense_Mutation_p.Y78C|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	177	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768775	121768775	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768775G>T	uc003pyr.2	+	2	1032	c.782G>T	c.(781-783)GGG>GTG	p.G261V	GJA1_uc011ebo.1_Missense_Mutation_p.G162V|GJA1_uc011ebp.1_Missense_Mutation_p.G49V	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	261	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122777743	122777743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:122777743A>G	uc003pyy.1	-	3	324	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	85	Lumenal (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)														---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332155	123332155	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332155G>A	uc003pzi.1	+	3	1284	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	139	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125541286	125541286	+	Missense_Mutation	SNP	T	C	C	rs150625143	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125541286T>C	uc003pzu.1	+	2	301	c.82T>C	c.(82-84)TCT>CCT	p.S28P	TPD52L1_uc003pzv.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzw.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	28	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
HDDC2	51020	broad.mit.edu	37	6	125621699	125621699	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125621699C>T	uc003qaa.1	-	2	395	c.191G>A	c.(190-192)CGT>CAT	p.R64H	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	64	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)														---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126203608	126203608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126203608G>A	uc010kes.2	+	9	1059	c.610G>A	c.(610-612)GAA>AAA	p.E204K	NCOA7_uc003qae.3_Missense_Mutation_p.E204K|NCOA7_uc003qah.2_Missense_Mutation_p.E204K|NCOA7_uc003qai.2_Missense_Mutation_p.E204K|NCOA7_uc010ket.2_Missense_Mutation_p.E100K|NCOA7_uc003qaf.2_Missense_Mutation_p.E204K|NCOA7_uc003qag.2_Missense_Mutation_p.E204K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	204					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---
HINT3	135114	broad.mit.edu	37	6	126293417	126293417	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126293417T>C	uc003qal.3	+	3	595	c.332T>C	c.(331-333)GTA>GCA	p.V111A	HINT3_uc010keu.2_Missense_Mutation_p.V2A	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	111	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)														---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127476519	127476519	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127476519T>C	uc003qar.2	+	4	860	c.570T>C	c.(568-570)TGT>TGC	p.C190C	RSPO3_uc003qas.1_Silent_p.C190C	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	190	TSP type-1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)														---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608346	127608346	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127608346C>T	uc003qav.2	+	3	747	c.588C>T	c.(586-588)AGC>AGT	p.S196S	RNF146_uc003qat.2_Silent_p.S195S|RNF146_uc003qau.2_Silent_p.S195S|RNF146_uc003qaw.2_Silent_p.S195S	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	196					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127836177	127836177	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127836177G>T	uc003qbd.2	-	3	1982	c.1117C>A	c.(1117-1119)CTG>ATG	p.L373M		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	373	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837089	127837089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837089C>T	uc003qbd.2	-	2	1536	c.671G>A	c.(670-672)GGC>GAC	p.G224D		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	224	Gly-rich.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837612	127837612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837612G>A	uc003qbd.2	-	2	1013	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	50						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128040898	128040898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128040898C>A	uc003qbi.2	-	6	2148	c.1829G>T	c.(1828-1830)GGT>GTT	p.G610V	THEMIS_uc010kfa.2_Missense_Mutation_p.G513V|THEMIS_uc011ebt.1_Missense_Mutation_p.G649V|THEMIS_uc010kfb.2_Missense_Mutation_p.G575V	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	610					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128302346	128302346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128302346T>C	uc003qbk.2	-	25	3990	c.3623A>G	c.(3622-3624)GAC>GGC	p.D1208G	PTPRK_uc003qbj.2_Missense_Mutation_p.D1209G|PTPRK_uc010kfc.2_Missense_Mutation_p.D1215G|PTPRK_uc011ebu.1_Missense_Mutation_p.D1231G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1208	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128388793	128388793	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128388793C>T	uc003qbk.2	-	12	2395	c.2028G>A	c.(2026-2028)CCG>CCA	p.P676P	PTPRK_uc003qbj.2_Silent_p.P676P|PTPRK_uc010kfc.2_Silent_p.P676P|PTPRK_uc011ebu.1_Silent_p.P676P|PTPRK_uc003qbl.1_Silent_p.P546P|PTPRK_uc011ebv.1_Silent_p.P676P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	676	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128410836	128410836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128410836A>G	uc003qbk.2	-	8	1831	c.1464T>C	c.(1462-1464)GAT>GAC	p.D488D	PTPRK_uc003qbj.2_Silent_p.D488D|PTPRK_uc010kfc.2_Silent_p.D488D|PTPRK_uc011ebu.1_Silent_p.D488D|PTPRK_uc003qbl.1_Silent_p.D358D|PTPRK_uc011ebv.1_Silent_p.D488D	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	488	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129636704	129636704	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129636704A>G	uc003qbn.2	+	25	3744	c.3639A>G	c.(3637-3639)CAA>CAG	p.Q1213Q	LAMA2_uc003qbo.2_Silent_p.Q1213Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1213	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129704342	129704342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129704342G>T	uc003qbn.2	+	35	5140	c.5035G>T	c.(5035-5037)GGA>TGA	p.G1679*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1679*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1679	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129799866	129799866	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129799866G>A	uc003qbn.2	+	53	7585	c.7480G>A	c.(7480-7482)GGC>AGC	p.G2494S	LAMA2_uc003qbo.2_Missense_Mutation_p.G2490S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2494	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129802444	129802444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129802444G>A	uc003qbn.2	+	54	7714	c.7609G>A	c.(7609-7611)GTG>ATG	p.V2537M	LAMA2_uc003qbo.2_Missense_Mutation_p.V2533M|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2537	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129826384	129826384	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129826384G>T	uc003qbn.2	+	60	8692	c.8587G>T	c.(8587-8589)GTA>TTA	p.V2863L	LAMA2_uc003qbo.2_Missense_Mutation_p.V2859L|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2863	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130381225	130381225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130381225G>A	uc003qbt.2	+	10	974	c.804G>A	c.(802-804)ATG>ATA	p.M268I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.M243I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	268	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130425727	130425727	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130425727A>G	uc003qbt.2	+						L3MBTL3_uc003qbu.2_Intron	NM_032438	NP_115814			l(3)mbt-like 3 isoform a						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130465868	130465868	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130465868C>T	uc003qbv.2	-	13	1686	c.1360G>A	c.(1360-1362)GAG>AAG	p.E454K	SAMD3_uc003qbx.2_Missense_Mutation_p.E454K|SAMD3_uc003qbw.2_Missense_Mutation_p.E454K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	454										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131220650	131220650	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131220650A>T	uc003qch.2	-	8	1399	c.1217T>A	c.(1216-1218)GTT>GAT	p.V406D	EPB41L2_uc003qcg.1_Missense_Mutation_p.V406D|EPB41L2_uc011eby.1_Missense_Mutation_p.V406D|EPB41L2_uc003qci.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfk.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfl.1_Missense_Mutation_p.V406D	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	406	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225685	131225685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131225685A>T	uc003qch.2	-						EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Intron	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277431	131277431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277431C>T	uc003qch.2	-	2	377	c.195G>A	c.(193-195)GAG>GAA	p.E65E	EPB41L2_uc003qcg.1_Silent_p.E65E|EPB41L2_uc011eby.1_Silent_p.E65E|EPB41L2_uc003qci.2_Silent_p.E65E|EPB41L2_uc010kfk.2_Silent_p.E65E|EPB41L2_uc010kfl.1_Silent_p.E65E	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	65					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277633	131277633	+	Translation_Start_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277633G>T	uc003qch.2	-	2	175	c.-7C>A	c.(-9--5)AGCTG>AGATG		EPB41L2_uc003qcg.1_Translation_Start_Site|EPB41L2_uc011eby.1_Translation_Start_Site|EPB41L2_uc003qci.2_Translation_Start_Site|EPB41L2_uc010kfk.2_Translation_Start_Site|EPB41L2_uc010kfl.1_Translation_Start_Site	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131910744	131910744	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131910744A>G	uc003qcs.1	-						MED23_uc003qcq.2_Intron|MED23_uc003qcr.1_Intron	NM_004830	NP_004821			mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131915302	131915302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131915302C>T	uc003qcs.1	-	23	3343	c.3169G>A	c.(3169-3171)GAG>AAG	p.E1057K	MED23_uc003qcq.2_Missense_Mutation_p.E1063K|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.E698K	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1057					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131927653	131927653	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131927653T>A	uc003qcs.1	-	13	1507	c.1333A>T	c.(1333-1335)ATT>TTT	p.I445F	MED23_uc003qcq.2_Missense_Mutation_p.I451F|MED23_uc011eca.1_Missense_Mutation_p.I86F|MED23_uc003qct.1_Missense_Mutation_p.I451F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	445					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131992414	131992414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131992414A>G	uc003qcu.3	+	8	936	c.589A>G	c.(589-591)ATG>GTG	p.M197V	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.M163V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.M197V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	197	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)														---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132186085	132186085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132186085A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132194193	132194193	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132194193A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132636881	132636881	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132636881T>C	uc003qdf.2	-	10	1500	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	MOXD1_uc003qde.2_Silent_p.S399S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	467	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132695860	132695860	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132695860A>G	uc003qdf.2	-	2	420	c.321T>C	c.(319-321)CAT>CAC	p.H107H	MOXD1_uc003qde.2_Silent_p.H39H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	107	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132909949	132909949	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132909949A>C	uc003qdk.2	-	1	929	c.877T>G	c.(877-879)TTT>GTT	p.F293V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	293	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)														---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133072393	133072393	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133072393T>C	uc003qdt.2	-	5	1102	c.1091A>G	c.(1090-1092)GAG>GGG	p.E364G	VNN2_uc003qds.2_Missense_Mutation_p.E73G|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.E311G	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	364					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)														---	---	---	---
C6orf192	116843	broad.mit.edu	37	6	133092043	133092043	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133092043A>G	uc003qdw.1	-	13	1442	c.1290T>C	c.(1288-1290)TAT>TAC	p.Y430Y	C6orf192_uc010kgd.1_RNA	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	430	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133834178	133834178	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133834178T>C	uc003qec.3	+	16	1959	c.1501_splice	c.e16+2	p.G501_splice	EYA4_uc011ecq.1_Splice_Site_p.G447_splice|EYA4_uc011ecr.1_Splice_Site_p.G453_splice|EYA4_uc003qed.3_Splice_Site_p.G501_splice|EYA4_uc003qee.3_Splice_Site_p.G478_splice|EYA4_uc011ecs.1_Splice_Site_p.G507_splice|uc003qeg.1_Intron	NM_004100	NP_004091			eyes absent 4 isoform a						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210807	134210807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210807G>A	uc003qei.3	+	1	548	c.272G>A	c.(271-273)CGC>CAC	p.R91H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.R91H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	91	Basic motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210965	134210965	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210965T>C	uc003qei.3	+	1	706	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Y144H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	144					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135271131	135271131	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135271131A>G	uc003qew.2	-	1	114	c.61T>C	c.(61-63)TGT>CGT	p.C21R	ALDH8A1_uc003qex.2_Missense_Mutation_p.C21R|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.C21R	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	21					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135751062	135751062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135751062A>T	uc003qgi.2	-	18	2834	c.2450T>A	c.(2449-2451)ATC>AAC	p.I817N	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.I267N|AHI1_uc003qgh.2_Missense_Mutation_p.I817N|AHI1_uc003qgj.2_Missense_Mutation_p.I817N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I817N	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	817	WD 5.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135778714	135778714	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135778714A>G	uc003qgi.2	-	9	1453	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P	AHI1_uc003qgh.2_Missense_Mutation_p.S357P|AHI1_uc003qgj.2_Missense_Mutation_p.S357P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S357P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	357						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136173140	136173140	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136173140T>C	uc003qgp.2	+	1	307	c.4T>C	c.(4-6)TCT>CCT	p.S2P		NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	2					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136472325	136472325	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136472325A>G	uc003qgp.2	+	6	713	c.410A>G	c.(409-411)CAC>CGC	p.H137R	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.H189R	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	137					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599062	136599062	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599062G>T	uc003qgx.1	-	4	1210	c.957C>A	c.(955-957)TCC>TCA	p.S319S	BCLAF1_uc003qgw.1_Silent_p.S319S|BCLAF1_uc003qgy.1_Silent_p.S317S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.S317S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	319					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136677924	136677924	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136677924C>T	uc003qgz.2	-	16	2167	c.1921G>A	c.(1921-1923)GCA>ACA	p.A641T	MAP7_uc011edf.1_Missense_Mutation_p.A626T|MAP7_uc011edg.1_Missense_Mutation_p.A671T|MAP7_uc010kgu.2_Missense_Mutation_p.A663T|MAP7_uc011edh.1_Missense_Mutation_p.A626T|MAP7_uc010kgv.2_Missense_Mutation_p.A663T|MAP7_uc010kgs.2_Missense_Mutation_p.A495T|MAP7_uc011edi.1_Missense_Mutation_p.A495T|MAP7_uc010kgq.1_Missense_Mutation_p.A547T|MAP7_uc003qha.1_Missense_Mutation_p.A604T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	641					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187764	137187764	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187764G>A	uc003qhd.2	+	6	629	c.527_splice	c.e6-1	p.G176_splice	PEX7_uc010kgx.2_Splice_Site	NM_000288	NP_000279			peroxisomal biogenesis factor 7						ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187813	137187813	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187813T>A	uc003qhd.2	+	6	677	c.575T>A	c.(574-576)ATC>AAC	p.I192N	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	192					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519370	137519370	+	Missense_Mutation	SNP	C	A	A	rs121913188		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519370C>A	uc003qho.2	-	7	1371	c.1268G>T	c.(1267-1269)AGC>ATC	p.S423I	IFNGR1_uc011edm.1_Missense_Mutation_p.S395I	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	423	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519722	137519722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519722A>G	uc003qho.2	-	7	1019	c.916T>C	c.(916-918)TCA>CCA	p.S306P	IFNGR1_uc011edm.1_Missense_Mutation_p.S278P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	306	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138583990	138583990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138583990G>A	uc003qhu.2	+	12	1370	c.1370G>A	c.(1369-1371)CGC>CAC	p.R457H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	457					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)														---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139203916	139203916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139203916G>A	uc003qif.1	+	14	2039	c.1936G>A	c.(1936-1938)GTG>ATG	p.V646M	ECT2L_uc011edq.1_Missense_Mutation_p.V577M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	646	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
HECA	51696	broad.mit.edu	37	6	139487472	139487472	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139487472T>C	uc003qin.2	+	2	608	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	108					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)														---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139591760	139591760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139591760C>T	uc011eds.1	-	4	685	c.520G>A	c.(520-522)GAT>AAT	p.D174N		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	174	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)														---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142397169	142397169	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142397169G>A	uc003qiu.2	-	3	930	c.789C>T	c.(787-789)CGC>CGT	p.R263R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	263	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142714119	142714119	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142714119T>G	uc010khc.2	+	8	1754	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	GPR126_uc010khd.2_Missense_Mutation_p.V420G|GPR126_uc010khe.2_Missense_Mutation_p.V448G|GPR126_uc010khf.2_Missense_Mutation_p.V420G	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	448	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142741057	142741057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142741057G>A	uc010khc.2	+	22	3546	c.3135G>A	c.(3133-3135)GTG>GTA	p.V1045V	GPR126_uc010khd.2_Silent_p.V1017V|GPR126_uc010khe.2_Silent_p.V1045V|GPR126_uc010khf.2_Silent_p.V1017V|GPR126_uc011edv.1_Silent_p.V105V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1045	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142764510	142764510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142764510C>T	uc010khc.2	+	26	4068	c.3657C>T	c.(3655-3657)GGC>GGT	p.G1219G	GPR126_uc010khd.2_Silent_p.G1191G|GPR126_uc010khe.2_Missense_Mutation_p.A1204V|GPR126_uc010khf.2_Missense_Mutation_p.A1176V|GPR126_uc011edv.1_Missense_Mutation_p.A264V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1219	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143093789	143093789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143093789T>C	uc003qjd.2	-	5	2830	c.2087A>G	c.(2086-2088)AAA>AGA	p.K696R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---
STX11	8676	broad.mit.edu	37	6	144507898	144507898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144507898A>G	uc003qks.3	+	2	326	c.134A>G	c.(133-135)TAC>TGC	p.Y45C		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	45	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)										Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144747473	144747473	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144747473T>C	uc003qkt.2	+	6	548	c.456T>C	c.(454-456)AGT>AGC	p.S152S	UTRN_uc010khq.1_Silent_p.S152S	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	152	CH 2.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144750813	144750813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144750813G>A	uc003qkt.2	+	8	883	c.791G>A	c.(790-792)CGT>CAT	p.R264H	UTRN_uc010khq.1_Missense_Mutation_p.R264H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	264	Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144811253	144811253	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144811253T>C	uc003qkt.2	+	30	4273	c.4181T>C	c.(4180-4182)TTG>TCG	p.L1394S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1394	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144835835	144835835	+	Missense_Mutation	SNP	G	A	A	rs115466543	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144835835G>A	uc003qkt.2	+	36	5215	c.5123G>A	c.(5122-5124)CGC>CAC	p.R1708H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.|Spectrin 12.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145156925	145156925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145156925G>A	uc003qkt.2	+	69	9767	c.9675G>A	c.(9673-9675)GAG>GAA	p.E3225E		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3225					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126254	146126254	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146126254A>G	uc003qla.2	-	2	1487	c.1288T>C	c.(1288-1290)TTG>CTG	p.L430L	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	430							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)														---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720540	146720540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146720540T>C	uc010khw.1	+	8	2835	c.2365T>C	c.(2365-2367)TTC>CTC	p.F789L	GRM1_uc010khv.1_Missense_Mutation_p.F789L|GRM1_uc003qll.2_Missense_Mutation_p.F789L|GRM1_uc011edz.1_Missense_Mutation_p.F789L|GRM1_uc011eea.1_Missense_Mutation_p.F789L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	789	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755885	146755885	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146755885G>A	uc010khw.1	+	9	4008	c.3538G>A	c.(3538-3540)GCC>ACC	p.A1180T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1180	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147632675	147632675	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147632675A>G	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147655326	147655326	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147655326T>A	uc003qlz.2	+	19	2275	c.2114T>A	c.(2113-2115)GTT>GAT	p.V705D	STXBP5_uc010khz.1_Missense_Mutation_p.V705D|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V376D|STXBP5_uc003qma.2_Missense_Mutation_p.V52D	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	705					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147705839	147705839	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147705839T>C	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron|uc003qmb.2_5'Flank	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148854021	148854021	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148854021C>T	uc003qme.1	+	14	2128	c.1653C>T	c.(1651-1653)TAC>TAT	p.Y551Y	SASH1_uc011eeb.1_Silent_p.Y312Y|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	551							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865849	148865849	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865849G>C	uc003qme.1	+	18	3718	c.3243G>C	c.(3241-3243)TTG>TTC	p.L1081F	SASH1_uc011eeb.1_Missense_Mutation_p.L842F|SASH1_uc003qmf.1_Missense_Mutation_p.L491F	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1081							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
UST	10090	broad.mit.edu	37	6	149340278	149340278	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149340278A>G	uc003qmg.2	+	6	981	c.685A>G	c.(685-687)ATC>GTC	p.I229V		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	229	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)														---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149699659	149699659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149699659C>T	uc003qmj.2	+	3	786	c.608C>T	c.(607-609)CCT>CTT	p.P203L	TAB2_uc011eec.1_Missense_Mutation_p.P171L|TAB2_uc010kia.1_Missense_Mutation_p.P203L|TAB2_uc010kib.1_Missense_Mutation_p.P203L|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	203					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700267	149700267	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149700267A>G	uc003qmj.2	+	3	1394	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A	TAB2_uc011eec.1_Missense_Mutation_p.T374A|TAB2_uc010kia.1_Missense_Mutation_p.T406A|TAB2_uc010kib.1_Missense_Mutation_p.T406A|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149862572	149862572	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149862572A>G	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
C6orf72	116254	broad.mit.edu	37	6	149900053	149900053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149900053T>C	uc003qmq.1	+	4	400	c.373T>C	c.(373-375)TCC>CCC	p.S125P	C6orf72_uc010kie.1_Missense_Mutation_p.S5P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	125	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149924471	149924471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149924471A>G	uc003qmr.1	-	5	707	c.662T>C	c.(661-663)CTT>CCT	p.L221P	KATNA1_uc003qms.2_Missense_Mutation_p.L221P|KATNA1_uc003qmt.2_Intron|KATNA1_uc011eed.1_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	221					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149944357	149944357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149944357T>C	uc003qmr.1	-	3	428	c.383A>G	c.(382-384)AAT>AGT	p.N128S	KATNA1_uc003qms.2_Missense_Mutation_p.N128S|KATNA1_uc003qmt.2_Missense_Mutation_p.N128S|KATNA1_uc011eed.1_Missense_Mutation_p.N128S	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	128	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001426	150001426	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001426A>G	uc003qmu.1	-	5	2726	c.2178T>C	c.(2176-2178)GAT>GAC	p.D726D	LATS1_uc010kif.1_Silent_p.D621D|LATS1_uc003qmv.1_Silent_p.D726D	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	726	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001570	150001570	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001570C>A	uc003qmu.1	-	5	2582	c.2034G>T	c.(2032-2034)CAG>CAT	p.Q678H	LATS1_uc010kif.1_Missense_Mutation_p.Q573H|LATS1_uc003qmv.1_Missense_Mutation_p.Q678H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	678					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
IYD	389434	broad.mit.edu	37	6	150713543	150713543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150713543G>A	uc003qnu.1	+	3	573	c.433G>A	c.(433-435)GTG>ATG	p.V145M	IYD_uc003qnv.1_Missense_Mutation_p.V145M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V145M|IYD_uc010kik.1_Missense_Mutation_p.V63M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	145	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151270190	151270190	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151270190T>C	uc003qob.2	+	16	1915	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.D550D|MTHFD1L_uc003qoc.2_Silent_p.D497D	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	549	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151331062	151331062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151331062C>T	uc003qob.2	+	21	2501	c.2233C>T	c.(2233-2235)CGA>TGA	p.R745*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.R746*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.R693*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	745	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151687891	151687891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151687891C>T	uc003qoh.2	-	3	445	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)														---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151790133	151790133	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151790133C>T	uc003qok.1	+	5	1473	c.1214C>T	c.(1213-1215)GCT>GTT	p.A405V	C6orf211_uc011ees.1_Missense_Mutation_p.A286V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	405							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---
C6orf97	80129	broad.mit.edu	37	6	151869554	151869554	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151869554T>C	uc003qol.2	+	5	793	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	235	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152415579	152415579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152415579C>T	uc003qom.3	+	9	1799	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	ESR1_uc010kin.2_Nonsense_Mutation_p.R477*|ESR1_uc010kio.2_Nonsense_Mutation_p.R479*|ESR1_uc010kip.2_Nonsense_Mutation_p.R476*|ESR1_uc003qon.3_Nonsense_Mutation_p.R477*|ESR1_uc003qoo.3_Nonsense_Mutation_p.R477*|ESR1_uc010kiq.2_Nonsense_Mutation_p.R75*|ESR1_uc010kir.2_Nonsense_Mutation_p.R216*|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Nonsense_Mutation_p.R62*|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Nonsense_Mutation_p.R146*|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	477	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)													---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152453334	152453334	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152453334A>T	uc010kiw.2	-	144	26619	c.26017T>A	c.(26017-26019)TCT>ACT	p.S8673T	SYNE1_uc010kiv.2_Missense_Mutation_p.S3197T|SYNE1_uc003qos.3_Missense_Mutation_p.S3197T|SYNE1_uc003qot.3_Missense_Mutation_p.S8625T|SYNE1_uc003qou.3_Missense_Mutation_p.S8673T|SYNE1_uc003qop.3_Missense_Mutation_p.S858T|SYNE1_uc011eez.1_Missense_Mutation_p.S875T|SYNE1_uc003qoq.3_Missense_Mutation_p.S875T|SYNE1_uc003qor.3_Missense_Mutation_p.S1596T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8673	Ser-rich.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152473104	152473104	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152473104C>T	uc010kiw.2	-	134	24904	c.24302G>A	c.(24301-24303)CGC>CAC	p.R8101H	SYNE1_uc010kiv.2_Missense_Mutation_p.R2625H|SYNE1_uc003qos.3_Missense_Mutation_p.R2625H|SYNE1_uc003qot.3_Missense_Mutation_p.R8030H|SYNE1_uc003qou.3_Missense_Mutation_p.R8101H|SYNE1_uc003qop.3_Missense_Mutation_p.R263H|SYNE1_uc011eez.1_Missense_Mutation_p.R303H|SYNE1_uc003qoq.3_Missense_Mutation_p.R303H|SYNE1_uc003qor.3_Missense_Mutation_p.R1001H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8101	Spectrin 29.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152558018	152558018	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152558018G>A	uc010kiw.2	-	109	20735	c.20133C>T	c.(20131-20133)AGC>AGT	p.S6711S	SYNE1_uc010kiv.2_Silent_p.S1235S|SYNE1_uc003qos.3_Silent_p.S1235S|SYNE1_uc003qot.3_Silent_p.S6640S|SYNE1_uc003qou.3_Silent_p.S6711S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6711	Cytoplasmic (Potential).|Potential.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599230	152599230	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599230G>A	uc010kiw.2	-	98	19169	c.18567C>T	c.(18565-18567)AAC>AAT	p.N6189N	SYNE1_uc010kiv.2_Silent_p.N713N|SYNE1_uc003qos.3_Silent_p.N713N|SYNE1_uc003qot.3_Silent_p.N6118N|SYNE1_uc003qou.3_Silent_p.N6189N|SYNE1_uc010kiy.1_Silent_p.N368N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6189	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152652942	152652942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152652942T>C	uc010kiw.2	-	78	13480	c.12878A>G	c.(12877-12879)GAA>GGA	p.E4293G	SYNE1_uc003qot.3_Missense_Mutation_p.E4222G|SYNE1_uc003qou.3_Missense_Mutation_p.E4293G|SYNE1_uc010kiz.2_Missense_Mutation_p.E48G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4293	Cytoplasmic (Potential).|Spectrin 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152757241	152757241	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152757241A>G	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771898	152771898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771898A>G	uc010kiw.2	-	27	3859	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	SYNE1_uc003qot.3_Missense_Mutation_p.V1093A|SYNE1_uc003qou.3_Missense_Mutation_p.V1086A|SYNE1_uc010kjb.1_Missense_Mutation_p.V1069A|SYNE1_uc003qow.2_Missense_Mutation_p.V381A|SYNE1_uc003qox.1_Missense_Mutation_p.V602A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1086	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771937	152771937	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771937A>T	uc010kiw.2	-	27	3820	c.3218T>A	c.(3217-3219)CTC>CAC	p.L1073H	SYNE1_uc003qot.3_Missense_Mutation_p.L1080H|SYNE1_uc003qou.3_Missense_Mutation_p.L1073H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1056H|SYNE1_uc003qow.2_Missense_Mutation_p.L368H|SYNE1_uc003qox.1_Missense_Mutation_p.L589H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1073	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153043137	153043137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153043137G>T	uc003qpd.3	+	2	465	c.457G>T	c.(457-459)GCA>TCA	p.A153S	MYCT1_uc010kjc.1_Missense_Mutation_p.A105S|MYCT1_uc003qpc.3_Missense_Mutation_p.A153S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	153						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---
FBXO5	26271	broad.mit.edu	37	6	153293537	153293537	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153293537A>C	uc003qpg.2	-	4	1071	c.962T>G	c.(961-963)TTC>TGC	p.F321C	FBXO5_uc003qph.2_Missense_Mutation_p.F275C	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)														---	---	---	---
MTRF1L	54516	broad.mit.edu	37	6	153312324	153312324	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153312324A>T	uc003qpi.3	-	6	1043	c.938T>A	c.(937-939)ATT>AAT	p.I313N	MTRF1L_uc003qpl.3_Intron|MTRF1L_uc011efa.1_Missense_Mutation_p.I277N|MTRF1L_uc003qpj.3_Missense_Mutation_p.I171N|MTRF1L_uc003qpk.3_Intron	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	313						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)														---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360916	154360916	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154360916C>T	uc003qpr.2	+	1	474	c.237C>T	c.(235-237)ATC>ATT	p.I79I	OPRM1_uc011efb.1_Silent_p.I127I|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.I172I|OPRM1_uc003qpn.2_Silent_p.I79I|OPRM1_uc003qpo.1_Silent_p.I79I|OPRM1_uc011eff.1_Silent_p.I79I|OPRM1_uc011efg.1_Silent_p.I79I|OPRM1_uc011efh.1_Silent_p.I79I|OPRM1_uc003qpq.1_Silent_p.I79I|OPRM1_uc003qpt.1_Silent_p.I79I|OPRM1_uc011efi.1_Silent_p.I79I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	79	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154414463	154414463	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154414463A>G	uc003qpr.2	+						OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Intron|OPRM1_uc003qpo.1_Missense_Mutation_p.Y408C|OPRM1_uc011eff.1_Intron|OPRM1_uc011efg.1_Intron|OPRM1_uc011efh.1_Intron|OPRM1_uc003qpq.1_Intron|OPRM1_uc003qpt.1_Intron|OPRM1_uc011efi.1_Intron|OPRM1_uc003qpp.2_Intron|OPRM1_uc003qps.2_Intron|OPRM1_uc010kjg.2_Intron	NM_000914	NP_000905			opioid receptor, mu 1 isoform MOR-1						behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155113964	155113964	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155113964T>C	uc003qqa.2	+	6	561	c.329T>C	c.(328-330)ATA>ACA	p.I110T	RBM16_uc011efj.1_Missense_Mutation_p.I176T|RBM16_uc011efk.1_Missense_Mutation_p.I155T|RBM16_uc003qpz.2_Missense_Mutation_p.I110T|RBM16_uc010kji.2_Missense_Mutation_p.I131T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	110	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155153655	155153655	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155153655G>T	uc003qqa.2	+	21	3174	c.2942G>T	c.(2941-2943)AGA>ATA	p.R981I	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.R1047I|RBM16_uc011efk.1_Missense_Mutation_p.R1026I|RBM16_uc003qpz.2_Missense_Mutation_p.R981I|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	981	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155503432	155503432	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155503432A>G	uc003qqb.2	+	15	4053	c.2780A>G	c.(2779-2781)GAT>GGT	p.D927G	TIAM2_uc003qqe.2_Missense_Mutation_p.D927G|TIAM2_uc010kjj.2_Missense_Mutation_p.D460G|TIAM2_uc003qqf.2_Missense_Mutation_p.D303G|TIAM2_uc011efl.1_Missense_Mutation_p.D263G|TIAM2_uc003qqg.2_Missense_Mutation_p.D239G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	927	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155577773	155577773	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155577773A>G	uc003qqb.2	+	29	5897	c.4624A>G	c.(4624-4626)AAG>GAG	p.K1542E	TIAM2_uc003qqe.2_Missense_Mutation_p.K1542E|TIAM2_uc010kjj.2_Missense_Mutation_p.K1104E|TIAM2_uc003qqf.2_Missense_Mutation_p.K918E|TIAM2_uc011efl.1_Missense_Mutation_p.K886E|TIAM2_uc003qqg.2_Missense_Mutation_p.K854E|TIAM2_uc003qqh.2_Missense_Mutation_p.K467E|uc003qqi.1_RNA	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1542					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157470090	157470090	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157470090G>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron|ARID1B_uc003qqq.1_Missense_Mutation_p.A333T|ARID1B_uc010kjl.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157495225	157495225	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157495225A>G	uc003qqn.2	+	10	3048	c.2896A>G	c.(2896-2898)ACT>GCT	p.T966A	ARID1B_uc003qqo.2_Missense_Mutation_p.T979A|ARID1B_uc003qqp.2_Missense_Mutation_p.T966A|ARID1B_uc010kjl.2_Missense_Mutation_p.T164A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511165	157511165	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157511165T>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157525017	157525017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157525017C>T	uc003qqn.2	+	19	5010	c.4858C>T	c.(4858-4860)CGT>TGT	p.R1620C	ARID1B_uc003qqo.2_Missense_Mutation_p.R1580C|ARID1B_uc003qqp.2_Missense_Mutation_p.R1567C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1625					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
C6orf35	729515	broad.mit.edu	37	6	157714011	157714011	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157714011T>G	uc003sih.3	-	4	611	c.348A>C	c.(346-348)AAA>AAC	p.K116N		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	116						integral to membrane					0																		---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158532390	158532390	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158532390C>T	uc003qrc.2	-	17					SERAC1_uc003qrb.2_3'UTR	NM_032861	NP_116250			serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158873219	158873219	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158873219G>A	uc003qrf.2	+	5	2135	c.778G>A	c.(778-780)GTC>ATC	p.V260I	TULP4_uc011efo.1_Missense_Mutation_p.V260I|TULP4_uc003qrg.2_Missense_Mutation_p.V260I	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	260					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158925039	158925039	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158925039G>A	uc003qrf.2	+	13	5701	c.4344G>A	c.(4342-4344)CGG>CGA	p.R1448R	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1448					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159457718	159457718	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159457718G>A	uc003qrz.2	-	10	1669	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	TAGAP_uc011eft.1_Missense_Mutation_p.A383V|TAGAP_uc003qsa.2_Missense_Mutation_p.A268V	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653499	159653499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159653499G>A	uc010kjv.2	+	11	2155	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H	FNDC1_uc010kjw.1_Missense_Mutation_p.R537H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
MRPL18	29074	broad.mit.edu	37	6	160219095	160219095	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160219095A>T	uc003qsw.3	+	4	611	c.483A>T	c.(481-483)CTA>CTT	p.L161L	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	161					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)														---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160221765	160221765	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160221765T>A	uc003qsx.1	+	2	176	c.5T>A	c.(4-6)TTC>TAC	p.F2Y	PNLDC1_uc003qsy.1_Intron	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	2						integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328535	160328535	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160328535A>T	uc003qsz.2	+	1	562	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	183	Extracellular (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160469473	160469473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160469473C>T	uc003qta.2	+	18	2560	c.2412C>T	c.(2410-2412)GTC>GTT	p.V804V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	804	6.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160482540	160482540	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160482540G>A	uc003qta.2	+	24	3416	c.3268G>A	c.(3268-3270)GCT>ACT	p.A1090T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1090	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160484579	160484579	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160484579A>T	uc003qta.2	+	27	3951	c.3803A>T	c.(3802-3804)GAC>GTC	p.D1268V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1268	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
PLG	5340	broad.mit.edu	37	6	161127481	161127481	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161127481C>T	uc003qtm.3	+	2	155	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	31	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161173138	161173138	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161173138T>A	uc003qtm.3	+							NM_000301	NP_000292			plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161781224	161781224	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161781224T>C	uc003qtx.3	-	11	1315	c.1181A>G	c.(1180-1182)GAT>GGT	p.D394G	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D203G|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.D366G|PARK2_uc003qtz.3_Missense_Mutation_p.D245G|PARK2_uc011egf.1_Missense_Mutation_p.D68G	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	394					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715755	165715755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715755G>A	uc003qum.3	-	2	92	c.56C>T	c.(55-57)CCA>CTA	p.P19L	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	19											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165806270	165806270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165806270C>T	uc003qun.2	-	17	1732	c.1491G>A	c.(1489-1491)AAG>AAA	p.K497K	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K427K|PDE10A_uc003quo.2_Silent_p.K507K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	497					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)													---	---	---	---
T	6862	broad.mit.edu	37	6	166571914	166571914	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166571914T>C	uc003quu.1	-	9	1690	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	T_uc003qut.1_Silent_p.P400P|T_uc003quv.1_Silent_p.P341P	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	399					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										Chordoma_Familial_Clustering_of				---	---	---	---
BRP44L	51660	broad.mit.edu	37	6	166779545	166779545	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166779545C>T	uc011egn.1	-	3	344	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	BRP44L_uc003qva.2_RNA	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN	brain protein 44-like	74						mitochondrion				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166902367	166902367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166902367C>T	uc003qvb.1	-	10	1080	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	RPS6KA2_uc011ego.1_Silent_p.Q198Q|RPS6KA2_uc010kkl.1_Silent_p.Q198Q|RPS6KA2_uc003qvc.1_Silent_p.Q295Q|RPS6KA2_uc003qvd.1_Silent_p.Q312Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	287	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166944731	166944731	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166944731G>T	uc003qvb.1	-	3	506	c.287C>A	c.(286-288)GCC>GAC	p.A96D	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7D|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7D|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104D|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A121D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	96	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754976	167754976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167754976T>C	uc003qvs.1	+	3	1676	c.1588T>C	c.(1588-1590)TCG>CCG	p.S530P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	530					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168344744	168344744	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168344744G>T	uc003qwd.2	+						MLLT4_uc003qwb.1_Intron|MLLT4_uc003qwc.1_Intron|MLLT4_uc003qwg.1_Intron	NM_001040001	NP_001035090			myeloid/lymphoid or mixed-lineage leukemia						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168947785	168947785	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168947785C>T	uc003qws.1	+						SMOC2_uc003qwr.1_Silent_p.S177S	NM_022138	NP_071421			SPARC related modular calcium binding 2						signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168999591	168999591	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168999591G>A	uc003qws.1	+	8	751	c.731G>A	c.(730-732)GGC>GAC	p.G244D	SMOC2_uc003qwr.1_Missense_Mutation_p.G255D	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	244	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169053890	169053890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169053890G>A	uc003qws.1	+	11	1287	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	SMOC2_uc003qwr.1_Missense_Mutation_p.D434N|SMOC2_uc011egu.1_Missense_Mutation_p.D100N	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	423					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169625300	169625300	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169625300C>T	uc003qwt.2	-	18	2961	c.2713G>A	c.(2713-2715)GTC>ATC	p.V905I		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	905	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)														---	---	---	---
TCTE3	6991	broad.mit.edu	37	6	170151476	170151476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170151476G>A	uc003qxe.1	-	1	163	c.79C>T	c.(79-81)CCT>TCT	p.P27S	TCTE3_uc003qxf.2_RNA|C6orf70_uc003qxg.1_5'Flank|C6orf70_uc011ehb.1_5'Flank|C6orf70_uc003qxh.1_5'Flank|C6orf70_uc010kky.1_5'Flank	NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	27					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)														---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170176102	170176102	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170176102T>A	uc003qxg.1	+	15	1494	c.1461T>A	c.(1459-1461)TAT>TAA	p.Y487*	C6orf70_uc011ehb.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxh.1_Nonsense_Mutation_p.Y487*|C6orf70_uc010kky.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxi.1_Nonsense_Mutation_p.Y135*	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	487						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627418	170627418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170627418T>G	uc003qxp.2	+	2	1048	c.940T>G	c.(940-942)TTT>GTT	p.F314V	FAM120B_uc003qxo.1_Missense_Mutation_p.F314V|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	314					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)														---	---	---	---
HEATR2	54919	broad.mit.edu	37	7	810177	810177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:810177A>G	uc010krz.1	+	9	1873	c.1853A>G	c.(1852-1854)GAC>GGC	p.D618G	HEATR2_uc003siz.2_Missense_Mutation_p.D486G|HEATR2_uc003sja.2_Missense_Mutation_p.D76G|HEATR2_uc003sjb.2_5'UTR|HEATR2_uc003sjc.2_Missense_Mutation_p.D43G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	618	HEAT 7.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883126	883126	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883126G>A	uc011jvp.1	+	6	706	c.627G>A	c.(625-627)TCG>TCA	p.S209S	SUN1_uc010ksa.1_Silent_p.S230S|SUN1_uc003sje.1_Silent_p.S209S|SUN1_uc003sjf.2_Silent_p.S159S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.S20S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	209	SYNE2-binding.|Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
GPR146	115330	broad.mit.edu	37	7	1097377	1097377	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1097377C>T	uc003sjw.2	+	2	302	c.226C>T	c.(226-228)CTC>TTC	p.L76F	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.L76F|GPR146_uc003sjy.1_Missense_Mutation_p.L76F	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
GPER	2852	broad.mit.edu	37	7	1131927	1131927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1131927C>T	uc010ksd.1	+	2	952	c.563C>T	c.(562-564)GCC>GTC	p.A188V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A188V|GPER_uc003ska.1_Missense_Mutation_p.A188V|GPER_uc003skb.2_Missense_Mutation_p.A188V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	188	Helical; Name=4; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)														---	---	---	---
UNCX	340260	broad.mit.edu	37	7	1273256	1273256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1273256C>T	uc011jvw.1	+	2	375	c.375C>T	c.(373-375)AAC>AAT	p.N125N		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	125	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1513960	1513960	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1513960G>T	uc003skn.2	-	41	5774	c.5673C>A	c.(5671-5673)CGC>CGA	p.R1891R	INTS1_uc003skm.1_Silent_p.R28R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1891					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1526379	1526379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1526379C>T	uc003skn.2	-	22	2959	c.2858G>A	c.(2857-2859)CGC>CAC	p.R953H	INTS1_uc003skp.1_Missense_Mutation_p.R300H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	953					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1538925	1538925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1538925G>A	uc003skn.2	-	7	1017	c.916C>T	c.(916-918)CTG>TTG	p.L306L	INTS1_uc003skq.2_Silent_p.L306L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	306					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	1855722	1855722	+	Missense_Mutation	SNP	C	T	T	rs148957172	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1855722C>T	uc003slh.1	-	19	2407	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	MAD1L1_uc003sle.1_Missense_Mutation_p.R443H|MAD1L1_uc003slf.1_Missense_Mutation_p.R714H|MAD1L1_uc003slg.1_Missense_Mutation_p.R714H|MAD1L1_uc010ksh.1_Missense_Mutation_p.R714H|MAD1L1_uc003sli.1_Missense_Mutation_p.R622H|MAD1L1_uc003sld.1_Missense_Mutation_p.R170H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	714					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2262372	2262372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2262372G>A	uc003slh.1	-	5	575	c.309C>T	c.(307-309)AAC>AAT	p.N103N	MAD1L1_uc003slf.1_Silent_p.N103N|MAD1L1_uc003slg.1_Silent_p.N103N|MAD1L1_uc010ksh.1_Silent_p.N103N|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.N56N|MAD1L1_uc010ksj.2_Silent_p.N103N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	103	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2311504	2311504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2311504A>G	uc003slw.2	-	4	564	c.521T>C	c.(520-522)TTC>TCC	p.F174S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	174	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)														---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2770886	2770886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2770886C>T	uc003smu.2	-	4	1239	c.1075G>A	c.(1075-1077)GTC>ATC	p.V359I	GNA12_uc011jwb.1_Missense_Mutation_p.V342I|GNA12_uc003smt.2_Missense_Mutation_p.V300I	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	359					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2951840	2951840	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2951840A>T	uc003smv.2	-	23	3514	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1037	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)				Mis		DLBCL								---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4116654	4116654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4116654A>G	uc003smx.2	+	21	3174	c.3035A>G	c.(3034-3036)TAC>TGC	p.Y1012C	SDK1_uc010kso.2_Missense_Mutation_p.Y288C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1012	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Y1012Y(1)		large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4277380	4277380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4277380C>T	uc003smx.2	+	42	6233	c.6094C>T	c.(6094-6096)CAC>TAC	p.H2032Y	SDK1_uc010kso.2_Missense_Mutation_p.H1288Y|SDK1_uc003smy.2_Missense_Mutation_p.H519Y|SDK1_uc003smz.2_Missense_Mutation_p.H92Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2032	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4780606	4780606	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4780606A>G	uc003snc.1	+	2	708	c.698A>G	c.(697-699)GAC>GGC	p.D233G	FOXK1_uc003sna.1_Missense_Mutation_p.D70G|FOXK1_uc003snb.1_Missense_Mutation_p.D233G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	233					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)														---	---	---	---
KIAA0415	9907	broad.mit.edu	37	7	4825911	4825911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4825911T>A	uc003sne.2	+	10	1246	c.1163T>A	c.(1162-1164)GTC>GAC	p.V388D	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	388					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)														---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901085	4901085	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4901085G>A	uc003snk.2	-	1	541	c.357C>T	c.(355-357)TGC>TGT	p.C119C	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	118					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4965157	4965157	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4965157C>T	uc003sno.3	-	2	250	c.54G>A	c.(52-54)ATG>ATA	p.M18I	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.M18I|MMD2_uc010ksq.2_Missense_Mutation_p.M18I	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	18	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)														---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104918	5104918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5104918A>G	uc010kss.1	+	6	2155	c.1831A>G	c.(1831-1833)ACT>GCT	p.T611A	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.T611A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	611	C2H2-type 13.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5232779	5232779	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5232779T>A	uc003snv.2	+	2	321	c.105T>A	c.(103-105)GGT>GGA	p.G35G	WIPI2_uc003snw.2_Silent_p.G35G|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	35					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5265492	5265492	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5265492G>A	uc003snv.2	+	9	995	c.779G>A	c.(778-780)GGC>GAC	p.G260D	WIPI2_uc003snw.2_Missense_Mutation_p.G260D|WIPI2_uc003snx.2_Missense_Mutation_p.G242D|WIPI2_uc003sny.2_Missense_Mutation_p.G242D|WIPI2_uc010ksv.2_Missense_Mutation_p.G116D|WIPI2_uc003soa.2_Missense_Mutation_p.G201D|WIPI2_uc003sob.2_Missense_Mutation_p.G3D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	260	WD 2.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352438	5352438	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5352438G>A	uc003soi.3	-	27	8433	c.8084C>T	c.(8083-8085)GCG>GTG	p.A2695V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2695							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5427427	5427427	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5427427T>A	uc003soi.3	-	5	2377	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	TNRC18_uc010ksx.1_Missense_Mutation_p.E602D	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	676							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6017399	6017399	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6017399A>G	uc003spl.2	-						PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526			PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6064312	6064312	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6064312C>T	uc003spp.2	-	15	2031	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	EIF2AK1_uc003spq.2_Missense_Mutation_p.V628M|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	629					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)														---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476083	7476083	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476083T>C	uc003src.1	-	23	1920	c.1803A>G	c.(1801-1803)GGA>GGG	p.G601G	COL28A1_uc011jxe.1_Silent_p.G284G|COL28A1_uc003srd.2_Silent_p.G156G|COL28A1_uc003sre.1_Silent_p.G22G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	601					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7625282A>G	uc003srf.2	+	7	1972	c.1664A>G	c.(1663-1665)AAT>AGT	p.N555S	MIOS_uc003srg.2_Missense_Mutation_p.N90S|MIOS_uc010ktq.2_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	555											0																		---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7636009	7636009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7636009C>T	uc003srf.2	+	11	2626	c.2318C>T	c.(2317-2319)ACA>ATA	p.T773I	MIOS_uc003srg.2_Missense_Mutation_p.T308I|MIOS_uc010ktq.2_Missense_Mutation_p.T168I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	773											0																		---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8272362	8272362	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8272362T>A	uc003srm.2	-	3	108	c.41A>T	c.(40-42)GAT>GTT	p.D14V	ICA1_uc010ktr.2_Missense_Mutation_p.D14V|ICA1_uc003srl.2_Missense_Mutation_p.D2V|ICA1_uc003srn.3_5'UTR|ICA1_uc003srp.3_Missense_Mutation_p.D13V|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.D14V|ICA1_uc003srr.2_Missense_Mutation_p.D13V|ICA1_uc003sro.3_Missense_Mutation_p.D14V|ICA1_uc011jxg.1_Missense_Mutation_p.D14V|ICA1_uc003srs.1_Missense_Mutation_p.D14V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	14					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10977710	10977710	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10977710A>G	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10979632	10979632	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10979632C>T	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11101630	11101630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11101630T>C	uc003sry.1	+	16	3007	c.2572T>C	c.(2572-2574)TTG>CTG	p.L858L	PHF14_uc011jxi.1_Silent_p.L573L|PHF14_uc003srz.2_Silent_p.L858L|PHF14_uc011jxj.1_Silent_p.L573L	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	858							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)														---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11422208	11422208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11422208C>A	uc003ssf.3	-	23	4699	c.4447G>T	c.(4447-4449)GCT>TCT	p.A1483S	uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1483	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676020	11676020	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11676020G>T	uc003ssf.3	-	2	1011	c.759C>A	c.(757-759)TAC>TAA	p.Y253*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	253	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12270750	12270750	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12270750A>G	uc011jxk.1	+						TMEM106B_uc003ssh.2_Intron	NM_018374	NP_060844			transmembrane protein 106B							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12271530	12271530	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12271530G>A	uc011jxk.1	+	9	1154	c.754G>A	c.(754-756)GAC>AAC	p.D252N	TMEM106B_uc003ssh.2_Missense_Mutation_p.D252N	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	252						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14724957	14724957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:14724957G>A	uc003ssz.2	-	9	929	c.742C>T	c.(742-744)CGA>TGA	p.R248*	DGKB_uc011jxt.1_Nonsense_Mutation_p.R241*|DGKB_uc003sta.2_Nonsense_Mutation_p.R248*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R248*|DGKB_uc011jxv.1_Nonsense_Mutation_p.R248*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	248	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)													---	---	---	---
SOSTDC1	25928	broad.mit.edu	37	7	16505200	16505200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16505200G>T	uc003stg.2	-	1	275	c.94C>A	c.(94-96)CTT>ATT	p.L32I	SOSTDC1_uc003sth.2_Missense_Mutation_p.L32I	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	32					Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)														---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20180770	20180770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20180770T>A	uc003sus.3	-	7	2667	c.2358A>T	c.(2356-2358)AAA>AAT	p.K786N	MACC1_uc010kug.2_Missense_Mutation_p.K786N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	786					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20199707	20199707	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20199707T>A	uc003sus.3	-	5	586	c.277A>T	c.(277-279)ATT>TTT	p.I93F	MACC1_uc010kug.2_Missense_Mutation_p.I93F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	93					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20449319	20449319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20449319T>C	uc003suu.2	+	13	2810	c.2105T>C	c.(2104-2106)CTG>CCG	p.L702P	ITGB8_uc011jyh.1_Missense_Mutation_p.L567P	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	702	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20666232	20666232	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20666232A>T	uc010kuh.2	+	3	343	c.106A>T	c.(106-108)ATA>TTA	p.I36L		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	689	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20778637	20778637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21603998	21603998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21603998A>T	uc003svc.2	+	6	1208	c.1177A>T	c.(1177-1179)AAT>TAT	p.N393Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	393	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21906122	21906122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21906122A>T	uc003svc.2	+	72	11583	c.11552A>T	c.(11551-11553)GAC>GTC	p.D3851V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3851					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21923982	21923982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21923982G>A	uc003svc.2	+	77	12513	c.12482G>A	c.(12481-12483)CGC>CAC	p.R4161H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4161					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23164720	23164720	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23164720A>G	uc003svs.3	+	4	664	c.371A>G	c.(370-372)TAT>TGT	p.Y124C	KLHL7_uc003svr.3_Missense_Mutation_p.Y102C|KLHL7_uc011jys.1_Missense_Mutation_p.Y48C|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Y76C|KLHL7_uc003svp.2_Missense_Mutation_p.Y102C|KLHL7_uc003svq.2_Missense_Mutation_p.Y124C|KLHL7_uc011jyu.1_Missense_Mutation_p.Y102C	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	124						Golgi apparatus|nucleolus|plasma membrane					0																		---	---	---	---
C7orf46	340277	broad.mit.edu	37	7	23724154	23724154	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23724154T>A	uc003swo.3	+	2	191	c.102T>A	c.(100-102)ACT>ACA	p.T34T	C7orf46_uc003swq.3_Silent_p.T34T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	34											0																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23751728	23751728	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23751728A>T	uc003sws.3	+	2	128	c.61A>T	c.(61-63)ATT>TTT	p.I21F	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Missense_Mutation_p.I21F|STK31_uc010kuq.2_5'UTR	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	21							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23776518	23776518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23776518T>C	uc003sws.3	+						STK31_uc003swt.3_Intron|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Intron	NM_031414	NP_113602			serine/threonine kinase 31 isoform a								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23809300	23809300	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23809300C>T	uc003sws.3	+	13	1705	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D	STK31_uc003swt.3_Silent_p.D523D|STK31_uc011jze.1_Silent_p.D546D|STK31_uc010kuq.2_Silent_p.D523D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	546							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26724393	26724393	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26724393A>C	uc003syc.2	-	11	1242	c.949T>G	c.(949-951)TCA>GCA	p.S317A	SKAP2_uc011jzi.1_Missense_Mutation_p.S145A|SKAP2_uc011jzj.1_Missense_Mutation_p.S302A	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	317	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27141056	27141056	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27141056G>A	uc003syh.2	-	2	695	c.420C>T	c.(418-420)GGC>GGT	p.G140G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	140						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27147767	27147767	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27147767C>T	uc011jzl.1	-	3	1299	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	HOXA3_uc011jzk.1_Missense_Mutation_p.V209M|HOXA3_uc003syk.2_Missense_Mutation_p.V367M	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27149900	27149900	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27149900C>T	uc011jzl.1	-	2	560	c.360G>A	c.(358-360)CCG>CCA	p.P120P	HOXA3_uc011jzk.1_Splice_Site|HOXA3_uc003syk.2_Silent_p.P120P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27150214	27150214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27150214A>G	uc011jzl.1	-	2	246	c.46T>C	c.(46-48)TAC>CAC	p.Y16H	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.Y16H	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	16					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29111986	29111986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29111986G>A	uc003szv.2	-	8	782	c.663C>T	c.(661-663)AAC>AAT	p.N221N	CPVL_uc003szw.2_Silent_p.N221N|CPVL_uc003szx.2_Silent_p.N221N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	221					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29111991	29111991	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29111991G>T	uc003szv.2	-	8	777	c.658C>A	c.(658-660)CTC>ATC	p.L220I	CPVL_uc003szw.2_Missense_Mutation_p.L220I|CPVL_uc003szx.2_Missense_Mutation_p.L220I	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	220					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29160521	29160521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29160521T>C	uc003szv.2	-	2	276	c.157A>G	c.(157-159)AAG>GAG	p.K53E	CPVL_uc003szw.2_Missense_Mutation_p.K53E|CPVL_uc003szx.2_Missense_Mutation_p.K53E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	53					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29552310	29552310	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29552310A>G	uc003szz.2	+	13	1803	c.1366A>G	c.(1366-1368)ATT>GTT	p.I456V	CHN2_uc011jzs.1_Missense_Mutation_p.I531V|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.I421V|CHN2_uc011jzt.1_Missense_Mutation_p.I469V|CHN2_uc010kvd.2_Missense_Mutation_p.I312V|CHN2_uc011jzu.1_Missense_Mutation_p.I441V|CHN2_uc010kvg.2_Missense_Mutation_p.I274V|CHN2_uc010kvh.2_Missense_Mutation_p.I216V|CHN2_uc010kvi.2_Missense_Mutation_p.I248V|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.I320V|CHN2_uc010kvf.2_Missense_Mutation_p.I262V|CHN2_uc010kvj.2_Missense_Mutation_p.I229V|CHN2_uc010kvk.2_Missense_Mutation_p.I131V|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.I275V|CHN2_uc011jzv.1_Missense_Mutation_p.I249V	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	456	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2																		---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30094922	30094922	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30094922T>A	uc003tam.1	+	9	1094	c.1003T>A	c.(1003-1005)TTC>ATC	p.F335I	PLEKHA8_uc003tao.2_Missense_Mutation_p.F219I|PLEKHA8_uc003tap.1_Missense_Mutation_p.F335I|PLEKHA8_uc003tan.2_Missense_Mutation_p.F335I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	335					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30490868	30490868	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30490868T>C	uc003tav.2	-	6	2688	c.2165A>G	c.(2164-2166)GAG>GGG	p.E722G		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	722	LRR 2.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491688	30491688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30491688G>A	uc003tav.2	-	6	1868	c.1345C>T	c.(1345-1347)CCA>TCA	p.P449S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	449	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
GARS	2617	broad.mit.edu	37	7	30661016	30661016	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30661016T>A	uc003tbm.2	+	11	1724	c.1367T>A	c.(1366-1368)ATT>AAT	p.I456N		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	456					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30693176	30693176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30693176T>C	uc003tbn.2	-	12	1380	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.D378G|CRHR2_uc010kvy.1_Missense_Mutation_p.D215G|CRHR2_uc003tbo.2_Missense_Mutation_p.D365G|CRHR2_uc003tbp.2_Missense_Mutation_p.D406G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	379	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31014631	31014631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31014631A>G	uc003tbx.2	+	9	906	c.858A>G	c.(856-858)AAA>AAG	p.K286K	GHRHR_uc003tbw.1_Silent_p.K286K|GHRHR_uc003tby.2_Silent_p.K222K|GHRHR_uc003tbz.2_Missense_Mutation_p.R53G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	286	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31102904	31102904	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31102904C>T	uc003tca.1	+	2	247	c.24C>T	c.(22-24)TCC>TCT	p.S8S	ADCYAP1R1_uc003tcb.1_Silent_p.S8S|ADCYAP1R1_uc003tcc.1_Silent_p.S8S|ADCYAP1R1_uc003tcd.1_Silent_p.S8S|ADCYAP1R1_uc003tce.1_Silent_p.S8S	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	8					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31683452	31683452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31683452G>A	uc003tcj.1	+	11	3461	c.2468G>A	c.(2467-2469)GGC>GAC	p.G823D	CCDC129_uc011kad.1_Missense_Mutation_p.G833D|CCDC129_uc003tci.1_Missense_Mutation_p.G674D|CCDC129_uc011kae.1_Missense_Mutation_p.G849D|CCDC129_uc003tck.1_Missense_Mutation_p.G731D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	823	Cys-rich.										0																		---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909594	32909594	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32909594A>G	uc003tdb.2	-	4	1894	c.1235T>C	c.(1234-1236)GTA>GCA	p.V412A	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	412	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)															---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33042307	33042307	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33042307T>C	uc003tdh.2	+	9	1573	c.1392T>C	c.(1390-1392)AGT>AGC	p.S464S	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.S517S|FKBP9_uc011kam.1_Silent_p.S232S	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	464	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)															---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33303972	33303972	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33303972G>T	uc003tdn.1	+	7	1201	c.688G>T	c.(688-690)GGA>TGA	p.G230*	BBS9_uc003tdo.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdp.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdq.1_Nonsense_Mutation_p.G230*|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Nonsense_Mutation_p.G230*|BBS9_uc011kao.1_Nonsense_Mutation_p.G108*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	230					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33573721	33573721	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33573721A>T	uc003tdn.1	+	21	2967	c.2454A>T	c.(2452-2454)AGA>AGT	p.R818S	BBS9_uc003tdo.1_Missense_Mutation_p.R783S|BBS9_uc003tdp.1_Missense_Mutation_p.R813S|BBS9_uc003tdq.1_Missense_Mutation_p.R778S|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R342S|BBS9_uc003tds.1_Missense_Mutation_p.R241S|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	818					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
EEPD1	80820	broad.mit.edu	37	7	36194118	36194118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36194118G>A	uc003tfa.2	+	2	825	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	62	HhH.				DNA repair		DNA binding				0																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	36934620	36934620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36934620T>C	uc003tfk.1	-	17	1747	c.1440A>G	c.(1438-1440)GTA>GTG	p.V480V	ELMO1_uc003tfi.1_5'UTR|ELMO1_uc003tfj.1_5'UTR|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.V384V|ELMO1_uc010kxg.1_Silent_p.V480V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	480	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37172811G>A	uc003tfk.1	-	14	1422	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37251126	37251126	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37251126A>T	uc003tfk.1	-						ELMO1_uc011kbc.1_Intron|ELMO1_uc010kxg.1_Intron	NM_014800	NP_055615			engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37311473	37311473	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37311473T>C	uc003tfk.1	-	5	514	c.207A>G	c.(205-207)ATA>ATG	p.I69M	ELMO1_uc011kbc.1_Translation_Start_Site|ELMO1_uc010kxg.1_Missense_Mutation_p.I69M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
TXNDC3	51314	broad.mit.edu	37	7	37907455	37907455	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37907455T>C	uc003tfn.2	+	11	1145	c.773T>C	c.(772-774)GTC>GCC	p.V258A		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3														Kartagener_syndrome				---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37960798	37960798	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37960798T>A	uc003tfp.2	+	1	636	c.617T>A	c.(616-618)ATC>AAC	p.I206N	EPDR1_uc003tfq.2_Missense_Mutation_p.I206N|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	86					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
STARD3NL	83930	broad.mit.edu	37	7	38247245	38247245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38247245G>A	uc003tfr.2	+	2	288	c.140G>A	c.(139-141)GGC>GAC	p.G47D	STARD3NL_uc003tfs.2_Missense_Mutation_p.G47D|STARD3NL_uc003tft.2_Missense_Mutation_p.G47D	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	47	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1																		---	---	---	---
AMPH	273	broad.mit.edu	37	7	38502674	38502674	+	Silent	SNP	C	T	T	rs148695925		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134332	40134332	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134332A>T	uc003thh.3	+	14	4574	c.4292A>T	c.(4291-4293)CAT>CTT	p.H1431L	CDK13_uc003thi.3_Missense_Mutation_p.H1371L|CDK13_uc003thj.2_Missense_Mutation_p.H482L|CDK13_uc003thk.2_Missense_Mutation_p.H364L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1431					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134336	40134336	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134336T>C	uc003thh.3	+	14	4578	c.4296T>C	c.(4294-4296)GGT>GGC	p.G1432G	CDK13_uc003thi.3_Silent_p.G1372G|CDK13_uc003thj.2_Silent_p.G483G|CDK13_uc003thk.2_Silent_p.G365G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1432					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134465	40134465	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134465C>T	uc003thh.3	+	14	4707	c.4425C>T	c.(4423-4425)CTC>CTT	p.L1475L	CDK13_uc003thi.3_Silent_p.L1415L|CDK13_uc003thj.2_Silent_p.L526L|CDK13_uc003thk.2_Silent_p.L408L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1475					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
C7orf10	79783	broad.mit.edu	37	7	40314127	40314127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40314127C>T	uc003thn.1	+	8	637	c.592C>T	c.(592-594)CGC>TGC	p.R198C	C7orf10_uc003thm.1_Missense_Mutation_p.R168C|C7orf10_uc003tho.1_Intron	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	205							transferase activity			ovary(2)	2																		---	---	---	---
STK17A	9263	broad.mit.edu	37	7	43647896	43647896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43647896G>A	uc003tih.2	+	3	612	c.461G>A	c.(460-462)AGA>AAA	p.R154K		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	154	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2																		---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43830895	43830895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43830895A>G	uc003tir.2	+	4	265	c.182A>G	c.(181-183)GAT>GGT	p.D61G	BLVRA_uc010kxv.2_Missense_Mutation_p.D61G	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	61					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43846580	43846580	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43846580C>T	uc003tir.2	+	8	720	c.637C>T	c.(637-639)CTG>TTG	p.L213L	BLVRA_uc010kxv.2_Silent_p.L213L	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	213					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43916390	43916390	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43916390A>G	uc003tiw.2	-	6	2729	c.2672T>C	c.(2671-2673)GTG>GCG	p.V891A	URGCP_uc003tiu.2_Missense_Mutation_p.V848A|URGCP_uc003tiv.2_Missense_Mutation_p.V816A|URGCP_uc003tix.2_Missense_Mutation_p.V882A|URGCP_uc003tiy.2_Missense_Mutation_p.V848A|URGCP_uc003tiz.2_Missense_Mutation_p.V848A|URGCP_uc011kbj.1_Missense_Mutation_p.V848A	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	891					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917311	43917311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43917311T>C	uc003tiw.2	-	6	1808	c.1751A>G	c.(1750-1752)CAG>CGG	p.Q584R	URGCP_uc003tiu.2_Missense_Mutation_p.Q541R|URGCP_uc003tiv.2_Missense_Mutation_p.Q509R|URGCP_uc003tix.2_Missense_Mutation_p.Q575R|URGCP_uc003tiy.2_Missense_Mutation_p.Q541R|URGCP_uc003tiz.2_Missense_Mutation_p.Q541R|URGCP_uc011kbj.1_Missense_Mutation_p.Q541R	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	584					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
POLM	27434	broad.mit.edu	37	7	44116212	44116212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44116212A>G	uc003tjt.2	-	6	823	c.731T>C	c.(730-732)TTC>TCC	p.F244S	POLM_uc003tjw.1_5'UTR|POLM_uc003tju.2_Missense_Mutation_p.F244S|POLM_uc003tjx.2_Intron|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_RNA|POLM_uc003tjz.3_Missense_Mutation_p.S239P	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	244					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3													DNA_polymerases_(catalytic_subunits)					---	---	---	---
MYL7	58498	broad.mit.edu	37	7	44178596	44178596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44178596G>A	uc003tkg.2	-	7	464	c.452C>T	c.(451-453)CCC>CTC	p.P151L		NM_021223	NP_067046	Q01449	MLRA_HUMAN	myosin light chain 2a	151	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity				0																		---	---	---	---
YKT6	10652	broad.mit.edu	37	7	44246004	44246004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44246004G>A	uc003tkm.2	+	3	365	c.208G>A	c.(208-210)GTC>ATC	p.V70I	YKT6_uc011kbv.1_Missense_Mutation_p.V70I	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	70	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0																		---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44882918	44882918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44882918G>A	uc003tma.2	-	2	194	c.39C>T	c.(37-39)GCC>GCT	p.A13A	H2AFV_uc003tlz.2_Silent_p.A13A|H2AFV_uc003tmb.2_Silent_p.A13A|H2AFV_uc003tmc.2_Silent_p.A13A|H2AFV_uc003tmd.2_Intron	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	13					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
TBRG4	9238	broad.mit.edu	37	7	45142067	45142067	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45142067C>A	uc003tmv.2	-	7	1326	c.1200G>T	c.(1198-1200)GAG>GAT	p.E400D	TBRG4_uc003tmu.2_Missense_Mutation_p.E225D|TBRG4_uc003tmw.2_Missense_Mutation_p.E290D|TBRG4_uc003tmx.2_Missense_Mutation_p.E290D|TBRG4_uc011kcd.1_Missense_Mutation_p.E411D	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	400					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0																		---	---	---	---
RAMP3	10268	broad.mit.edu	37	7	45216982	45216982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45216982G>A	uc003tnb.2	+	2	194	c.133G>A	c.(133-135)GCA>ACA	p.A45T	RAMP3_uc003tnc.2_Missense_Mutation_p.A13T	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	45	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717627	45717627	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717627A>G	uc003tne.3	+	9	1783	c.1765A>G	c.(1765-1767)ACC>GCC	p.T589A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	589	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717666	45717666	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717666A>G	uc003tne.3	+							NM_021116	NP_066939			adenylate cyclase 1						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45743052	45743052	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45743052C>T	uc003tne.3	+	15	2550	c.2532C>T	c.(2530-2532)CAC>CAT	p.H844H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	844	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750165	45750165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750165G>A	uc003tne.3	+	19	2989	c.2971G>A	c.(2971-2973)GCT>ACT	p.A991T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	991	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750202	45750202	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750202T>C	uc003tne.3	+	19	3026	c.3008T>C	c.(3007-3009)GTC>GCC	p.V1003A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1003	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
IGFBP3	3486	broad.mit.edu	37	7	45957003	45957003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45957003C>T	uc003tns.2	-	2	571	c.439G>A	c.(439-441)GGC>AGC	p.G147S	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.G153S|IGFBP3_uc003tnt.2_Missense_Mutation_p.G50S	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408173	47408173	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408173C>T	uc003tnv.2	-	17	2437	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S	TNS3_uc003tnw.2_Silent_p.S690S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	690						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408194	47408194	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408194G>A	uc003tnv.2	-	17	2416	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	TNS3_uc003tnw.2_Silent_p.S683S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	683						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47453571	47453571	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47453571T>C	uc003tnv.2	-	12	978	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TNS3_uc003tnw.2_Missense_Mutation_p.Y204C|TNS3_uc010kyo.1_Missense_Mutation_p.Y204C	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	204	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47869198	47869198	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47869198A>G	uc003tny.1	-	44	6560	c.6560T>C	c.(6559-6561)GTA>GCA	p.V2187A	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2187	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47894797	47894797	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47894797G>A	uc003tny.1	-	29	4657	c.4657C>T	c.(4657-4659)CTA>TTA	p.L1553L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1553	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47897384	47897384	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47897384C>T	uc003tny.1	-	28	4409	c.4409G>A	c.(4408-4410)CGG>CAG	p.R1470Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1470	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47906161	47906161	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47906161G>A	uc003tny.1	-	25	3948	c.3948C>T	c.(3946-3948)TAC>TAT	p.Y1316Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1316	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48026922	48026922	+	3'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48026922C>A	uc003tof.2	-	11					SUN3_uc010kyq.2_3'UTR|SUN3_uc003tog.2_3'UTR|SUN3_uc011kcf.1_3'UTR	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48269449	48269449	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48269449T>C	uc003toq.2	+	7	685	c.660T>C	c.(658-660)GAT>GAC	p.D220D	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	220					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315257	48315257	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315257T>C	uc003toq.2	+	17	6019	c.5994T>C	c.(5992-5994)ATT>ATC	p.I1998I	ABCA13_uc010kyr.2_Silent_p.I1501I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1998					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315591	48315591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315591T>C	uc003toq.2	+	17	6353	c.6328T>C	c.(6328-6330)TCA>CCA	p.S2110P	ABCA13_uc010kyr.2_Missense_Mutation_p.S1613P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2110					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318231	48318231	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318231T>C	uc003toq.2	+	18	7465	c.7440T>C	c.(7438-7440)GGT>GGC	p.G2480G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2480					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318639	48318639	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318639T>C	uc003toq.2	+	18	7873	c.7848T>C	c.(7846-7848)AGT>AGC	p.S2616S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2616					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48337993	48337993	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48337993T>C	uc003toq.2	+	23	9255	c.9230T>C	c.(9229-9231)ATC>ACC	p.I3077T	ABCA13_uc010kys.1_Missense_Mutation_p.I151T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3077					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
VWC2	375567	broad.mit.edu	37	7	49951753	49951753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:49951753G>A	uc003tot.1	+	4	1506	c.950G>A	c.(949-951)TGC>TAC	p.C317Y		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	317					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0																		---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513108	50513108	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513108A>G	uc003tpc.2	-	4	2255	c.1878T>C	c.(1876-1878)GCT>GCC	p.A626A	FIGNL1_uc003tpb.2_Silent_p.A515A|FIGNL1_uc003tpd.2_Silent_p.A626A|FIGNL1_uc003tpe.2_Silent_p.A626A|FIGNL1_uc010kyy.2_Silent_p.A626A	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	626					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513894	50513894	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513894T>A	uc003tpc.2	-	4	1469	c.1092A>T	c.(1090-1092)GGA>GGT	p.G364G	FIGNL1_uc003tpb.2_Silent_p.G253G|FIGNL1_uc003tpd.2_Silent_p.G364G|FIGNL1_uc003tpe.2_Silent_p.G364G|FIGNL1_uc010kyy.2_Silent_p.G364G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	364					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
DDC	1644	broad.mit.edu	37	7	50535009	50535009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50535009A>G	uc003tpf.3	-	13	1231	c.1145T>C	c.(1144-1146)GTC>GCC	p.V382A	DDC_uc010kza.2_Missense_Mutation_p.V297A|DDC_uc003tpg.3_Missense_Mutation_p.V382A	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	382					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)													---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096557	51096557	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096557C>A	uc003tpr.3	-	10	2421	c.2236G>T	c.(2236-2238)GGC>TGC	p.G746C	COBL_uc003tps.2_Missense_Mutation_p.G803C|COBL_uc011kcl.1_Missense_Mutation_p.G746C|COBL_uc003tpp.3_Missense_Mutation_p.G532C|COBL_uc003tpq.3_Missense_Mutation_p.G687C|COBL_uc003tpo.3_Missense_Mutation_p.G288C	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	746										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096763	51096763	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096763T>A	uc003tpr.3	-	10	2215	c.2030A>T	c.(2029-2031)AAC>ATC	p.N677I	COBL_uc003tps.2_Missense_Mutation_p.N734I|COBL_uc011kcl.1_Missense_Mutation_p.N677I|COBL_uc003tpp.3_Missense_Mutation_p.N463I|COBL_uc003tpq.3_Missense_Mutation_p.N618I|COBL_uc003tpo.3_Missense_Mutation_p.N219I	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	677										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55229200	55229200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55229200G>T	uc003tqk.2	+	13	1753	c.1507G>T	c.(1507-1509)GGC>TGC	p.G503C	EGFR_uc003tqi.2_Missense_Mutation_p.G503C|EGFR_uc003tqj.2_Missense_Mutation_p.G503C|EGFR_uc010kzg.1_Missense_Mutation_p.G458C|EGFR_uc011kco.1_Missense_Mutation_p.G450C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	503	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55496101	55496101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55496101G>A	uc003tqp.2	+	8	1797	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	407					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)															---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56129476	56129476	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56129476A>T	uc003trl.1	+	12	1548	c.1384A>T	c.(1384-1386)ACA>TCA	p.T462S	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.T417S|CCT6A_uc011kcu.1_Missense_Mutation_p.T431S|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	462					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56132072	56132072	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56132072G>A	uc003trv.2	+	1	155	c.124_splice	c.e1+1	p.G42_splice	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Splice_Site_p.G42_splice|SUMF2_uc011kcv.1_Splice_Site|SUMF2_uc011kcw.1_Splice_Site_p.G42_splice|SUMF2_uc011kcx.1_Splice_Site_p.G42_splice|SUMF2_uc003trt.2_Splice_Site|SUMF2_uc011kcy.1_Splice_Site_p.G42_splice|SUMF2_uc011kcz.1_Splice_Site_p.G42_splice|SUMF2_uc003tru.2_Splice_Site|SUMF2_uc011kda.1_Splice_Site|SUMF2_uc003trx.2_Splice_Site	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56146161	56146161	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56146161G>A	uc003trv.2	+						PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.A280T|SUMF2_uc011kcx.1_Missense_Mutation_p.A211T|SUMF2_uc003trt.2_Missense_Mutation_p.A173T|SUMF2_uc011kcy.1_Missense_Mutation_p.A265T|SUMF2_uc011kcz.1_Missense_Mutation_p.A196T|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Silent_p.Q44Q|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
ZNF680	340252	broad.mit.edu	37	7	63982663	63982663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63982663C>T	uc003tta.2	-	4	642	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ZNF680_uc010kzr.2_Missense_Mutation_p.D84N	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)																---	---	---	---
ZNF138	7697	broad.mit.edu	37	7	64291846	64291846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64291846G>A	uc011kdp.1	+	5	539	c.363G>A	c.(361-363)TTG>TTA	p.L121L	ZNF138_uc003ttg.2_Missense_Mutation_p.A19T|ZNF138_uc011kdq.1_Missense_Mutation_p.A50T|ZNF138_uc003tth.2_RNA|ZNF138_uc010kzs.2_Missense_Mutation_p.A44T	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	121					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)																---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64377979	64377979	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64377979T>C	uc003tto.2	+	2	199	c.123T>C	c.(121-123)GAT>GAC	p.D41D	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64438701	64438701	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64438701G>A	uc003ttr.2	-	4	2533	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65440067	65440067	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65440067G>A	uc003tun.2	-						GUSB_uc011kdt.1_Intron	NM_000181	NP_000172			glucuronidase, beta precursor						glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65599349	65599349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65599349A>G	uc003tus.2	+	4	372	c.227A>G	c.(226-228)CAC>CGC	p.H76R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.H69R|CRCP_uc003tut.2_Missense_Mutation_p.H43R|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	76					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0																		---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65705699	65705699	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65705699G>A	uc003tuw.2	+	2	639	c.287G>A	c.(286-288)CGC>CAC	p.R96H	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.R96H|TPST1_uc010laa.2_Missense_Mutation_p.R96H	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	96	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0																		---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66236966	66236966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66236966G>T	uc011kee.1	+	2	286	c.122G>T	c.(121-123)GGC>GTC	p.G41V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvh.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	165	Interaction with ubiquitinated proteins.|A20-type.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70246639	70246639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70246639A>G	uc003tvw.3	+	15	2786	c.2043A>G	c.(2041-2043)GGA>GGG	p.G681G	AUTS2_uc003tvx.3_Silent_p.G657G|AUTS2_uc011keg.1_Silent_p.G133G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	681										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255176	70255176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70255176C>T	uc003tvw.3	+	19	3717	c.2974C>T	c.(2974-2976)CTG>TTG	p.L992L	AUTS2_uc003tvx.3_Silent_p.L968L|AUTS2_uc011keg.1_Silent_p.L444L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	992										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70880917	70880917	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70880917A>G	uc003tvy.2	+	4	632	c.632A>G	c.(631-633)TAC>TGC	p.Y211C	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	211	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71135084	71135084	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:71135084C>T	uc003tvy.2	+	8	1394	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A164V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	465	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
STAG3L3	442578	broad.mit.edu	37	7	72470007	72470007	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72470007T>A	uc003txd.3	-	6	850	c.334A>T	c.(334-336)ATA>TTA	p.I112L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	112						nucleus	binding				0		Lung NSC(55;0.197)																---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72880734	72880734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72880734A>G	uc003tyc.2	-							NM_032408	NP_115784			bromodomain adjacent to zinc finger domain, 1B						ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73010717	73010717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73010717G>A	uc003tyn.1	-	12	1963	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	MLXIPL_uc003tyj.1_Missense_Mutation_p.R20W|MLXIPL_uc003tyk.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R639W|MLXIPL_uc003tym.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R545W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	639					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
ABHD11	83451	broad.mit.edu	37	7	73153044	73153044	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73153044G>A	uc003tzb.2	-	1	141	c.84C>T	c.(82-84)GGC>GGT	p.G28G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G28G|ABHD11_uc003tzc.2_Silent_p.G28G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G28G|ABHD11_uc011kfc.1_Silent_p.G28G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	28							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73245601	73245601	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73245601T>C	uc003tzi.3	+	1	409	c.70T>C	c.(70-72)TGC>CGC	p.C24R	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	24	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73246012	73246012	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73246012G>T	uc003tzi.3	+	1	820	c.481G>T	c.(481-483)GGT>TGT	p.G161C	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	161	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462858	73462858	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462858A>G	uc003tzw.2	+	15	862	c.771A>G	c.(769-771)GCA>GCG	p.A257A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Splice_Site|ELN_uc011kfe.1_Silent_p.A226A|ELN_uc003tzn.2_Silent_p.A257A|ELN_uc003tzz.2_Silent_p.A221A|ELN_uc003tzo.2_Silent_p.A243A|ELN_uc003tzp.2_Silent_p.A213A|ELN_uc003tzq.2_Silent_p.A140A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A257A|ELN_uc003tzt.2_Silent_p.A262A|ELN_uc003tzu.2_Silent_p.A262A|ELN_uc003tzv.2_Silent_p.A247A|ELN_uc003tzx.2_Silent_p.A247A|ELN_uc011kff.1_Silent_p.A257A|ELN_uc003tzy.2_Silent_p.A252A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462877	73462877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462877G>A	uc003tzw.2	+	15	881	c.790G>A	c.(790-792)GCA>ACA	p.A264T	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A233T|ELN_uc003tzn.2_Missense_Mutation_p.A264T|ELN_uc003tzz.2_Missense_Mutation_p.A228T|ELN_uc003tzo.2_Missense_Mutation_p.A250T|ELN_uc003tzp.2_Missense_Mutation_p.A220T|ELN_uc003tzq.2_Missense_Mutation_p.A147T|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A264T|ELN_uc003tzt.2_Missense_Mutation_p.A269T|ELN_uc003tzu.2_Missense_Mutation_p.A269T|ELN_uc003tzv.2_Missense_Mutation_p.A254T|ELN_uc003tzx.2_Missense_Mutation_p.A254T|ELN_uc011kff.1_Missense_Mutation_p.A264T|ELN_uc003tzy.2_Missense_Mutation_p.A259T	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	264	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73510954	73510954	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73510954G>A	uc003uaa.1	+	3	320	c.155G>A	c.(154-156)TGT>TAT	p.C52Y	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.C18Y|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	52	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)																---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73604186	73604186	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73604186C>A	uc003uad.1	+	4	355	c.347C>A	c.(346-348)GCA>GAA	p.A116E	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.A116E|EIF4H_uc010lbm.2_Missense_Mutation_p.A116E|EIF4H_uc003uae.1_Missense_Mutation_p.A116E|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	116	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73664117	73664117	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73664117C>T	uc003uaj.2	-						RFC2_uc011kfa.1_Intron|RFC2_uc003uak.2_Intron|RFC2_uc010lbp.2_Intron|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73666758	73666758	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73666758C>T	uc003uaj.2	-	2	208	c.183_splice	c.e2+1	p.E61_splice	RFC2_uc011kfa.1_Splice_Site|RFC2_uc003uak.2_Splice_Site_p.E61_splice|RFC2_uc010lbp.2_Splice_Site_p.E24_splice|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731916	73731916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73731916G>A	uc003uam.2	+	2	367	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CLIP2_uc003uan.2_Missense_Mutation_p.G14R	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				skin(3)	3																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953006	73953006	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953006G>A	uc003uaq.2	+						GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron	NM_016328	NP_057412			GTF2I repeat domain containing 1 isoform 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953039	73953039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953039C>T	uc003uaq.2	+	13	1870	c.1477C>T	c.(1477-1479)CCG>TCG	p.P493S	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P525S|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P493S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P493S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	493						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75068445	75068445	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75068445T>C	uc010lde.1	-	4	1011	c.1011A>G	c.(1009-1011)GGA>GGG	p.G337G	POM121C_uc003udk.3_Silent_p.G95G			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	337	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0																		---	---	---	---
RHBDD2	57414	broad.mit.edu	37	7	75517387	75517387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75517387C>T	uc003udw.1	+	4	899	c.815C>T	c.(814-816)ACG>ATG	p.T272M	RHBDD2_uc003udv.1_Missense_Mutation_p.T131M	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	272						integral to membrane	serine-type endopeptidase activity				0																		---	---	---	---
POR	5447	broad.mit.edu	37	7	75614176	75614176	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75614176C>T	uc003udy.2	+	11	1230	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	POR_uc011kgc.1_Missense_Mutation_p.P191L|POR_uc011kgd.1_Missense_Mutation_p.P282L|POR_uc011kge.1_Missense_Mutation_p.P121L|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	380	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)													---	---	---	---
YWHAG	7532	broad.mit.edu	37	7	75959437	75959437	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75959437C>T	uc011kgj.1	-	2	418	c.201G>A	c.(199-201)GAG>GAA	p.E67E		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112470	76112470	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76112470G>A	uc003uff.3	+						DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron	NM_020892	NP_065943			deltex 2 isoform a						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76126704	76126704	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76126704C>T	uc003uff.3	+	7	1616	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	DTX2_uc011kgk.1_Missense_Mutation_p.R263C|DTX2_uc003ufg.3_Missense_Mutation_p.R354C|DTX2_uc003ufh.3_Missense_Mutation_p.R354C|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.R17C|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	354					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76825713	76825713	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76825713G>A	uc003ugb.2	-	2	1243	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	401	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76829058	76829058	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76829058C>A	uc003ugb.2	-	1	93	c.53G>T	c.(52-54)GGT>GTT	p.G18V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	18					signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77708270	77708270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77708270C>A	uc003ugx.2	-	21	3954	c.3700G>T	c.(3700-3702)GAA>TAA	p.E1234*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.E1220*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.E827*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1234				E -> Q (in Ref. 1; AAC05370).		cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77789472	77789472	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77789472G>T	uc003ugx.2	-	16	2969	c.2715C>A	c.(2713-2715)GCC>GCA	p.A905A	MAGI2_uc003ugy.2_Silent_p.A891A|MAGI2_uc010ldx.1_Silent_p.A498A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	905						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	79082520	79082520	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:79082520T>A	uc003ugx.2	-	1	371	c.117A>T	c.(115-117)GGA>GGT	p.G39G	MAGI2_uc003ugy.2_Silent_p.G39G|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	39	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
HGF	3082	broad.mit.edu	37	7	81374395	81374395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81374395T>C	uc003uhl.2	-	6	832	c.667A>G	c.(667-669)ATG>GTG	p.M223V	HGF_uc003uhm.2_Missense_Mutation_p.M218V|HGF_uc003uhn.1_Missense_Mutation_p.M223V|HGF_uc003uho.1_Missense_Mutation_p.M218V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	223	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	T	T	rs137853235		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81381566C>T	uc003uhl.2	-	5	660	c.495G>A	c.(493-495)TCG>TCA	p.S165S	HGF_uc003uhm.2_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.2_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579252	82579252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82579252T>C	uc003uhx.2	-	6	10941	c.10652A>G	c.(10651-10653)AAA>AGA	p.K3551R	PCLO_uc003uhv.2_Missense_Mutation_p.K3551R|PCLO_uc010lec.2_Missense_Mutation_p.K516R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583904	82583904	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82583904C>A	uc003uhx.2	-	5	6654	c.6365G>T	c.(6364-6366)AGT>ATT	p.S2122I	PCLO_uc003uhv.2_Missense_Mutation_p.S2122I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2053					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82763785	82763785	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82763785T>A	uc003uhx.2	-	3	3370	c.3081A>T	c.(3079-3081)CCA>CCT	p.P1027P	PCLO_uc003uhv.2_Silent_p.P1027P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	973	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784146	82784146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82784146T>C	uc003uhx.2	-	2	2100	c.1811A>G	c.(1810-1812)AAG>AGG	p.K604R	PCLO_uc003uhv.2_Missense_Mutation_p.K604R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	550	C4-type (Potential).|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84671486	84671486	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84671486C>T	uc003uic.2	-	8	1016	c.976_splice	c.e8+1	p.Q326_splice	SEMA3D_uc010led.2_Splice_Site_p.Q326_splice|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86541542	86541542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86541542C>T	uc011kha.1	-	15	2200	c.2015G>A	c.(2014-2016)AGT>AAT	p.S672N	KIAA1324L_uc003uif.1_Missense_Mutation_p.S432N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.S558N|KIAA1324L_uc003uie.2_Missense_Mutation_p.S505N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	672	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86802919	86802919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86802919A>G	uc003uih.2	+	6	722	c.396A>G	c.(394-396)CAA>CAG	p.Q132Q	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.Q44Q|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.Q132Q|DMTF1_uc003uim.1_Silent_p.Q132Q|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	132	Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86824348	86824348	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86824348T>A	uc003uih.2	+	18	2501	c.2175T>A	c.(2173-2175)GAT>GAA	p.D725E	DMTF1_uc003uii.2_Missense_Mutation_p.D459E|DMTF1_uc003uij.2_Missense_Mutation_p.D459E|DMTF1_uc011khb.1_Missense_Mutation_p.D637E|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.D725E|DMTF1_uc003uin.2_Missense_Mutation_p.D459E	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	725	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179871	87179871	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179871C>T	uc003uiz.1	-	12	1555	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	ABCB1_uc011khc.1_Silent_p.S315S	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	379	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87507464	87507464	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87507464G>A	uc003ujf.1	+	2	647	c.143G>A	c.(142-144)GGA>GAA	p.G48E	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	48	BRCT 1.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516180	87516180	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516180T>A	uc003ujf.1	+	4	925	c.421T>A	c.(421-423)TTA>ATA	p.L141I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	141					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87760680	87760680	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87760680A>G	uc003ujn.2	+	11	1001	c.922A>G	c.(922-924)ACC>GCC	p.T308A	ADAM22_uc003ujj.1_Missense_Mutation_p.T308A|ADAM22_uc003ujk.1_Missense_Mutation_p.T308A|ADAM22_uc003ujl.1_Missense_Mutation_p.T308A|ADAM22_uc003ujm.2_Missense_Mutation_p.T308A|ADAM22_uc003ujo.2_Missense_Mutation_p.T308A|ADAM22_uc003ujp.1_Missense_Mutation_p.T360A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	308	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87780325	87780325	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87780325A>T	uc003ujn.2	+	19	1675	c.1596A>T	c.(1594-1596)GGA>GGT	p.G532G	ADAM22_uc003ujk.1_Silent_p.G532G|ADAM22_uc003ujl.1_Silent_p.G532G|ADAM22_uc003ujm.2_Silent_p.G532G|ADAM22_uc003ujo.2_Silent_p.G532G|ADAM22_uc003ujp.1_Silent_p.G584G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	532	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87912203	87912203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87912203A>G	uc003ujs.2	-	3	842	c.737T>C	c.(736-738)ATC>ACC	p.I246T	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I246T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	246	Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)																	---	---	---	---
MGC26647	219557	broad.mit.edu	37	7	88424168	88424168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88424168T>C	uc003ujv.2	-	2	271	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	30											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847605	88847605	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847605A>C	uc011khi.1	+	2	783	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	82						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89854552	89854552	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89854552C>T	uc003ujz.2	+	2	549	c.156C>T	c.(154-156)TGC>TGT	p.C52C	STEAP2_uc003ujy.2_Silent_p.C94C|STEAP2_uc010len.2_Silent_p.C52C|STEAP2_uc003uka.2_Silent_p.C52C|STEAP2_uc003ukb.2_Silent_p.C52C|STEAP2_uc003ukc.2_Silent_p.C52C|STEAP2_uc003ukd.2_Silent_p.C52C	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	52					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856621	89856621	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89856621G>T	uc003ujz.2	+	3	1222	c.829G>T	c.(829-831)GCA>TCA	p.A277S	STEAP2_uc003ujy.2_Missense_Mutation_p.A319S|STEAP2_uc010len.2_Missense_Mutation_p.A277S|STEAP2_uc003uka.2_Missense_Mutation_p.A277S|STEAP2_uc003ukb.2_Missense_Mutation_p.A277S|STEAP2_uc003ukc.2_Missense_Mutation_p.A277S|STEAP2_uc003ukd.2_Missense_Mutation_p.A277S	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	277	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
GTPBP10	85865	broad.mit.edu	37	7	90014459	90014459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90014459T>C	uc003ukm.1	+	10	1221	c.1155T>C	c.(1153-1155)GAT>GAC	p.D385D	GTPBP10_uc003ukn.1_Silent_p.D306D|GTPBP10_uc003uko.1_Silent_p.D195D|CLDN12_uc003ukp.2_5'UTR|CLDN12_uc003ukq.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	385					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90356055	90356055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90356055T>C	uc003uky.2	+	3	520	c.298T>C	c.(298-300)TGC>CGC	p.C100R	CDK14_uc003ukt.1_Missense_Mutation_p.C54R|CDK14_uc003ukv.1_Missense_Mutation_p.C54R|CDK14_uc003uku.1_Missense_Mutation_p.C54R|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.C82R|CDK14_uc010les.1_Missense_Mutation_p.C54R|CDK14_uc011khl.1_Silent_p.L2L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	100					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895161	90895161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895161G>A	uc003ula.2	+	1	1379	c.966G>A	c.(964-966)TGG>TGA	p.W322*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	322	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895558	90895558	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895558C>T	uc003ula.2	+	1	1776	c.1363C>T	c.(1363-1365)CCG>TCG	p.P455S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	455	Helical; Name=4; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91708815	91708815	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91708815T>A	uc003ulg.2	+	31	7593	c.7368T>A	c.(7366-7368)GAT>GAA	p.D2456E	AKAP9_uc003ulf.2_Missense_Mutation_p.D2448E|AKAP9_uc003uli.2_Missense_Mutation_p.D2079E|AKAP9_uc003ulj.2_Missense_Mutation_p.D226E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2468	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92020590	92020590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92020590G>A	uc003ulw.2	+	16	2539	c.2163G>A	c.(2161-2163)AGG>AGA	p.R721R	ANKIB1_uc010lew.1_Missense_Mutation_p.A8T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	721							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027890	92027890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92027890A>G	uc003ulw.2	+	20	3273	c.2897A>G	c.(2896-2898)AAT>AGT	p.N966S	ANKIB1_uc010lew.1_Missense_Mutation_p.N235S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	966							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92129140	92129140	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92129140A>C	uc003uly.2	-	16	2692	c.2596T>G	c.(2596-2598)TTT>GTT	p.F866V	PEX1_uc011khr.1_Missense_Mutation_p.F658V|PEX1_uc010ley.2_Missense_Mutation_p.F809V|PEX1_uc011khs.1_Missense_Mutation_p.F544V|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	866					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92247520	92247520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92247520C>T	uc011khw.1	-	7	1112	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CDK6_uc010lez.2_Missense_Mutation_p.V234M	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92404119	92404119	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92404119C>T	uc011khw.1	-	3	672	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	CDK6_uc010lez.2_Missense_Mutation_p.R87Q	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	87	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92734465	92734465	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92734465A>T	uc003umf.2	-	3	1202	c.946T>A	c.(946-948)TGC>AGC	p.C316S	SAMD9_uc003umg.2_Missense_Mutation_p.C316S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	316						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92735292	92735292	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92735292T>C	uc003umf.2	-	3	375	c.119A>G	c.(118-120)GAC>GGC	p.D40G	SAMD9_uc003umg.2_Missense_Mutation_p.D40G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	40	SAM.					cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760589	92760589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92760589A>G	uc003umh.1	-	5	5912	c.4696T>C	c.(4696-4698)TCT>CCT	p.S1566P	SAMD9L_uc003umj.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umi.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umk.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1566P|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1566										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92982940	92982940	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92982940T>C	uc003umo.2	+						CCDC132_uc003umq.2_Intron|CCDC132_uc003ump.2_Intron|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron	NM_017667	NP_060137			coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
GNGT1	2792	broad.mit.edu	37	7	93540172	93540172	+	Missense_Mutation	SNP	G	A	A	rs138254553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:93540172G>A	uc003unc.1	+	3	315	c.167G>A	c.(166-168)GGC>GAC	p.G56D	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	56					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)															---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94146970	94146970	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94146970T>C	uc003uni.3	+	2	457	c.230_splice	c.e2+2	p.S77_splice	CASD1_uc003unh.2_Splice_Site_p.S77_splice|CASD1_uc003unj.3_Splice_Site_p.S77_splice	NM_022900	NP_075051			CAS1 domain containing 1 precursor							integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)															---	---	---	---
PON1	5444	broad.mit.edu	37	7	94944662	94944662	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94944662A>C	uc003uns.2	-	4	439	c.342T>G	c.(340-342)CCT>CCG	p.P114P	PON1_uc011kih.1_Silent_p.P114P	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
PON1	5444	broad.mit.edu	37	7	95025597	95025597	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95025597C>G	uc011kih.1	-	1	91	c.66G>C	c.(64-66)CTG>CTC	p.L22L	PON3_uc003unt.2_Silent_p.L22L|PON3_uc011kii.1_Silent_p.L22L			P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	22					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95813609	95813609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95813609C>T	uc003uof.3	-	11	1348	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	SLC25A13_uc003uog.3_Missense_Mutation_p.G387D|SLC25A13_uc011kik.1_Missense_Mutation_p.G278D	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	386	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95814285	95814285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95814285T>C	uc003uof.3	-	10	1163	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	SLC25A13_uc003uog.3_Silent_p.Q325Q|SLC25A13_uc011kik.1_Silent_p.Q216Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	324					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639170	96639170	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96639170T>A	uc003uom.2	+	4	609	c.609T>A	c.(607-609)AAT>AAA	p.N203K	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	113					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650040	96650040	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96650040C>T	uc003uon.2	-	3						NM_005221	NP_005212			distal-less homeobox 5						cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97498452	97498452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97498452G>A	uc003uot.3	-	3	523	c.17C>T	c.(16-18)GCG>GTG	p.A6V	ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.A6V|ASNS_uc003uov.3_Missense_Mutation_p.A6V|ASNS_uc011kio.1_Intron|ASNS_uc003uow.3_Intron|ASNS_uc003uox.3_Intron	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	6	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823866	97823866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97823866A>G	uc003upd.1	+	11	4382	c.4089A>G	c.(4087-4089)ACA>ACG	p.T1363T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860361	97860361	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97860361A>G	uc003upg.2	-	15	2399	c.2194T>C	c.(2194-2196)TGG>CGG	p.W732R	TECPR1_uc003uph.1_Missense_Mutation_p.W662R	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	732	TECPR 5.					integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98513399	98513399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98513399G>T	uc003upp.2	+	19	2462	c.2253G>T	c.(2251-2253)AAG>AAT	p.K751N	TRRAP_uc011kis.1_Missense_Mutation_p.K751N|TRRAP_uc003upr.2_Missense_Mutation_p.K443N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	751					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98530903	98530903	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98530903C>A	uc003upp.2	+	27	4101	c.3892C>A	c.(3892-3894)CGA>AGA	p.R1298R	TRRAP_uc011kis.1_Silent_p.R1298R|TRRAP_uc003upr.2_Silent_p.R990R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1298					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98533266	98533266	+	Missense_Mutation	SNP	C	T	T	rs139426093		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98533266C>T	uc003upp.2	+	28	4288	c.4079C>T	c.(4078-4080)CCG>CTG	p.P1360L	TRRAP_uc011kis.1_Missense_Mutation_p.P1360L|TRRAP_uc003upr.2_Missense_Mutation_p.P1052L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1360					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98535356	98535356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98535356C>T	uc003upp.2	+	30	4526	c.4317C>T	c.(4315-4317)AGC>AGT	p.S1439S	TRRAP_uc011kis.1_Silent_p.S1439S|TRRAP_uc003upr.2_Silent_p.S1131S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1439					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
SMURF1	57154	broad.mit.edu	37	7	98655120	98655120	+	Silent	SNP	A	T	T	rs150079661		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98655120A>T	uc003upu.1	-	4	578	c.258T>A	c.(256-258)ATT>ATA	p.I86I	SMURF1_uc003upv.1_Silent_p.I86I|SMURF1_uc003upt.2_Silent_p.I86I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	86	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	99002518	99002518	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99002518G>A	uc003uqe.2	-	2	193	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	24					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99021445	99021445	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99021445T>C	uc003uqh.2	-	7	2004	c.1873A>G	c.(1873-1875)ATC>GTC	p.I625V	PTCD1_uc011kiw.1_Missense_Mutation_p.I674V	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	625										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022974	99022974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99022974T>C	uc003uqh.2	-	6	1312	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	PTCD1_uc011kiw.1_Missense_Mutation_p.Q443R	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	394										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084466	99084466	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99084466G>A	uc003uqq.1	+	5	852	c.633G>A	c.(631-633)AGG>AGA	p.R211R	ZNF789_uc010lfw.1_Silent_p.R116R|ZNF789_uc003uqr.1_Silent_p.R153R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	211	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99092051	99092051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99092051C>A	uc003uqs.2	-	3	948	c.787G>T	c.(787-789)GGA>TGA	p.G263*	ZNF394_uc003uqt.2_Nonsense_Mutation_p.G56*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	263					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99129621	99129621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99129621T>C	uc003uqv.2	+	7	2393	c.2269T>C	c.(2269-2271)TGT>CGT	p.C757R	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.C684R|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.C493R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	757	C2H2-type 11; atypical.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF498	221785	broad.mit.edu	37	7	99227533	99227533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99227533A>G	uc003url.1	+	8	1852	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	ZNF498_uc003urm.1_Missense_Mutation_p.T345A|ZNF498_uc010lge.1_Missense_Mutation_p.T345A|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.T437A|ZNF498_uc003uro.1_Missense_Mutation_p.T293A	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	509					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)																	---	---	---	---
CYP3A4	1576	broad.mit.edu	37	7	99366086	99366086	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99366086T>C	uc003urv.1	-	7	665	c.561A>G	c.(559-561)ACA>ACG	p.T187T	CYP3A4_uc003urw.1_Silent_p.T187T|CYP3A4_uc011kiz.1_Silent_p.T146T|CYP3A4_uc011kja.1_Silent_p.T138T|CYP3A4_uc011kjb.1_Silent_p.T37T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	187				T -> S (in Ref. 1; BAA00001/AAA35742).	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)													---	---	---	---
GJC3	349149	broad.mit.edu	37	7	99526644	99526644	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99526644A>C	uc011kjd.1	-	1	600	c.600T>G	c.(598-600)GGT>GGG	p.G200G		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	200	Helical; (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)																	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99631365	99631365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99631365G>A	uc003usk.1	+	6	1456	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.A377T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.A200T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	413	C2H2-type 2.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99703151	99703151	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99703151A>G	uc003utb.3	+	11	1126	c.918A>G	c.(916-918)CGA>CGG	p.R306R	AP4M1_uc011kjg.1_Silent_p.R260R|AP4M1_uc010lgl.1_Silent_p.R281R|AP4M1_uc003utc.3_Silent_p.R313R|AP4M1_uc010lgm.2_Silent_p.R178R|AP4M1_uc003utd.2_Silent_p.R306R|AP4M1_uc011kjh.1_Silent_p.R258R|AP4M1_uc003ute.3_Silent_p.R81R|AP4M1_uc003utf.3_Silent_p.R178R	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	306	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99711671	99711671	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99711671G>A	uc003uti.2	-						TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Intron|TAF6_uc003utk.2_Intron|TAF6_uc011kji.1_Intron|TAF6_uc003utj.2_Intron|TAF6_uc003utl.2_Intron|TAF6_uc003utm.2_Intron|TAF6_uc003utn.1_Intron	NM_139315	NP_647476			TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf43	55262	broad.mit.edu	37	7	99754477	99754477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99754477C>T	uc003utr.2	-	6	1164	c.984G>A	c.(982-984)GGG>GGA	p.G328G	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.G96G|C7orf43_uc003uts.2_Silent_p.G59G	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	328											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	A	A	rs150667953	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99757655G>A	uc003utt.2	-	3	2374	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99811392	99811392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99811392G>A	uc003utx.1	+	33	3787	c.3632G>A	c.(3631-3633)GGG>GAG	p.G1211E	STAG3_uc011kjk.1_Missense_Mutation_p.G1153E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G436E|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1211					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028639	100028639	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100028639C>A	uc003uuw.2	+	1	1111	c.998C>A	c.(997-999)CCA>CAA	p.P333Q	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	333							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf51	222950	broad.mit.edu	37	7	100086267	100086267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100086267C>T	uc003uvd.1	+	4	1082	c.923C>T	c.(922-924)CCG>CTG	p.P308L	C7orf51_uc003uve.1_Missense_Mutation_p.P90L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	308	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100243920	100243920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100243920C>A	uc003uvy.2	-	13	1259	c.1152G>T	c.(1150-1152)ATG>ATT	p.M384I	ACTL6B_uc003uvx.1_Missense_Mutation_p.M175I|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	384					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350794	100350794	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100350794A>G	uc003uwj.2	+	14	3231	c.3066A>G	c.(3064-3066)CCA>CCG	p.P1022P	ZAN_uc003uwk.2_Silent_p.P1022P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1022	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100469238	100469238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100469238A>G	uc003uww.2	+	7	1243	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	358	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490064	100490064	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100490064T>C	uc003uxd.2	-	2	1600	c.1444A>G	c.(1444-1446)ATC>GTC	p.I482V	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.I482V|ACHE_uc003uxf.2_Missense_Mutation_p.I482V|ACHE_uc003uxg.2_Missense_Mutation_p.I482V|ACHE_uc003uxh.2_Missense_Mutation_p.I394V|ACHE_uc003uxi.2_Missense_Mutation_p.I482V	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	482					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
ACHE	43	broad.mit.edu	37	7	100491298	100491298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100491298C>T	uc003uxd.2	-	1	712	c.556G>A	c.(556-558)GCC>ACC	p.A186T	ACHE_uc003uxe.2_Missense_Mutation_p.A186T|ACHE_uc003uxf.2_Missense_Mutation_p.A186T|ACHE_uc003uxg.2_Missense_Mutation_p.A186T|ACHE_uc003uxh.2_Missense_Mutation_p.A186T|ACHE_uc003uxi.2_Missense_Mutation_p.A186T|ACHE_uc003uxj.1_Missense_Mutation_p.A305T	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	186					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677683	100677683	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677683G>A	uc003uxp.1	+	3	3039	c.2986G>A	c.(2986-2988)GCC>ACC	p.A996T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	996	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679615	100679615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100679615A>G	uc003uxp.1	+	3	4971	c.4918A>G	c.(4918-4920)ACC>GCC	p.T1640A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1640	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683690	100683690	+	Missense_Mutation	SNP	C	T	T	rs142796970		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683690C>T	uc003uxp.1	+	3	9046	c.8993C>T	c.(8992-8994)CCG>CTG	p.P2998L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2998	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686475	100686475	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100686475A>G	uc003uxp.1	+	3	11831	c.11778A>G	c.(11776-11778)GTA>GTG	p.V3926V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3926	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100732344	100732344	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100732344C>T	uc003uxq.2	+	3	1982	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	584					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856390	100856390	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100856390T>C	uc003uyd.2	-	7	1231	c.775A>G	c.(775-777)AAG>GAG	p.K259E	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	259					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
EMID2	136227	broad.mit.edu	37	7	101188738	101188738	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101188738C>T	uc010lhy.1	+	7	1009	c.817C>T	c.(817-819)CTC>TTC	p.L273F	EMID2_uc003uyo.1_Missense_Mutation_p.L275F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	275						collagen				ovary(1)	1	Lung NSC(181;0.215)																	---	---	---	---
SH2B2	10603	broad.mit.edu	37	7	101960844	101960844	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101960844A>G	uc011kko.1	+	6	1616	c.1571A>G	c.(1570-1572)CAT>CGT	p.H524R		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	481	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102106487	102106487	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102106487C>T	uc003uzn.2	+	2	442	c.304C>T	c.(304-306)CCC>TCC	p.P102S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	102	LRR 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102108751	102108751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102108751C>T	uc003uzn.2	+	7	984	c.846C>T	c.(844-846)CAC>CAT	p.H282H	LRWD1_uc003uzo.2_Silent_p.H130H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	282					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760524	102760524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102760524A>T	uc003vbc.2	-	3	769	c.441T>A	c.(439-441)GAT>GAA	p.D147E	NAPEPLD_uc003vbd.2_Missense_Mutation_p.D147E|NAPEPLD_uc011klj.1_Missense_Mutation_p.D220E|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	147					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1																		---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102948078	102948078	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102948078T>C	uc003vbl.2	+	7	806	c.772T>C	c.(772-774)TTT>CTT	p.F258L	PMPCB_uc010liu.1_Missense_Mutation_p.F258L|PMPCB_uc003vbk.1_Missense_Mutation_p.F258L|PMPCB_uc003vbm.2_Missense_Mutation_p.F167L|PMPCB_uc010liv.2_Missense_Mutation_p.F164L|PMPCB_uc010liw.2_Missense_Mutation_p.F167L|PMPCB_uc011kll.1_Missense_Mutation_p.F153L|PMPCB_uc011klm.1_Missense_Mutation_p.F133L	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	258					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	T	T	rs115035120	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103124188C>T	uc003vca.2	-	62	10253	c.10093G>A	c.(10093-10095)GTC>ATC	p.V3365I	RELN_uc010liz.2_Missense_Mutation_p.V3365I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3365	BNR 16.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103130326	103130326	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103130326A>T	uc003vca.2	-	60	9786	c.9626T>A	c.(9625-9627)ATC>AAC	p.I3209N	RELN_uc010liz.2_Missense_Mutation_p.I3209N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103191549	103191549	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103191549C>A	uc003vca.2	-	41	6427	c.6267G>T	c.(6265-6267)AGG>AGT	p.R2089S	RELN_uc010liz.2_Missense_Mutation_p.R2089S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2089					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230160	103230160	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103230160G>T	uc003vca.2	-	28	4188	c.4028C>A	c.(4027-4029)GCA>GAA	p.A1343E	RELN_uc010liz.2_Missense_Mutation_p.A1343E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1343					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
MLL5	55904	broad.mit.edu	37	7	104742044	104742044	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:104742044T>C	uc003vcm.2	+						MLL5_uc010ljc.2_Intron|MLL5_uc010lje.1_Intron	NM_182931	NP_891847			myeloid/lymphoid or mixed-lineage leukemia 5						cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148964	105148964	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105148964A>G	uc003vcx.2	-	2					PUS7_uc010lji.2_5'UTR|PUS7_uc003vcy.2_5'UTR|PUS7_uc003vcz.1_5'UTR	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105641973	105641973	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105641973C>T	uc003vdl.3	+	7	887	c.779C>T	c.(778-780)GCG>GTG	p.A260V	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.A247V|CDHR3_uc011klt.1_Missense_Mutation_p.A172V|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508059	106508059	+	Missense_Mutation	SNP	G	A	A	rs142380460	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508059G>A	uc003vdv.3	+	2	138	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R18Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R18Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	18					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R18Q(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508394C>T	uc003vdv.3	+	2	473	c.388C>T	c.(388-390)CGG>TGG	p.R130W	PIK3CG_uc003vdu.2_Missense_Mutation_p.R130W|PIK3CG_uc003vdw.2_Missense_Mutation_p.R130W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106781302	106781302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106781302C>T	uc003vdx.2	+	5	666	c.491C>T	c.(490-492)TCT>TTT	p.S164F		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	164	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106799932	106799932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106799932T>A	uc003vdx.2	+	11	1337	c.1162T>A	c.(1162-1164)TGC>AGC	p.C388S		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	388	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106830637	106830637	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106830637A>G	uc003vdy.2	+	8	1128	c.942A>G	c.(940-942)CCA>CCG	p.P314P	HBP1_uc011klv.1_Silent_p.P324P|HBP1_uc003vdz.2_Silent_p.P314P|HBP1_uc003vea.2_Silent_p.P314P|HBP1_uc003veb.1_Silent_p.P314P	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	314	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1																		---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107258781	107258781	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107258781A>G	uc003vej.2	+	8	1038	c.699A>G	c.(697-699)TTA>TTG	p.L233L	BCAP29_uc011kly.1_Silent_p.L139L|BCAP29_uc011klz.1_Intron|BCAP29_uc011kma.1_Missense_Mutation_p.R260G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	233	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2																		---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107330694	107330694	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107330694A>C	uc003vep.2	+						SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	NM_000441	NP_000432			pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7														Pendred_syndrome				---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107394336	107394336	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107394336A>G	uc003veq.2	+						CBLL1_uc011kme.1_Intron|CBLL1_uc011kmf.1_Intron	NM_024814	NP_079090			Cas-Br-M (murine) ecotropic retroviral						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107575974	107575974	+	Silent	SNP	G	A	A	rs146681738		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107575974G>A	uc003vew.2	-	27	4409	c.4074C>T	c.(4072-4074)GAC>GAT	p.D1358D	LAMB1_uc003vev.2_Silent_p.D1382D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1358	Potential.|Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107677924	107677924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107677924G>A	uc010ljo.1	-	30	4672	c.4588C>T	c.(4588-4590)CAA>TAA	p.Q1530*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1530*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q499*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1530	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107732062	107732062	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107732062A>G	uc010ljo.1	-						LAMB4_uc003vey.2_Intron	NM_007356	NP_031382			laminin, beta 4 precursor						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108213489	108213489	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108213489T>C	uc003vfn.2	+	3	566	c.364T>C	c.(364-366)TTT>CTT	p.F122L		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	122					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0																		---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763174	110763174	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763174C>T	uc003vft.3	+	4	1392	c.346C>T	c.(346-348)CCT>TCT	p.P116S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P116S|LRRN3_uc003vfs.3_Missense_Mutation_p.P116S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	116	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764599	110764599	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764599A>G	uc003vft.3	+	4	2817	c.1771A>G	c.(1771-1773)ATT>GTT	p.I591V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I591V|LRRN3_uc003vfs.3_Missense_Mutation_p.I591V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	591	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764825	110764825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764825T>A	uc003vft.3	+	4	3043	c.1997T>A	c.(1996-1998)TTA>TAA	p.L666*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L666*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L666*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	666	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
GPR85	54329	broad.mit.edu	37	7	112723818	112723818	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112723818A>T	uc010ljv.2	-	2	1476	c.959T>A	c.(958-960)TTT>TAT	p.F320Y	GPR85_uc003vgp.1_Missense_Mutation_p.F320Y|GPR85_uc003vgq.2_Missense_Mutation_p.F320Y|GPR85_uc010ljw.1_Missense_Mutation_p.F320Y	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519801	113519801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113519801C>T	uc010ljy.1	-	4	1377	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	449					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558357	113558357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113558357T>C	uc010ljy.1	-	1	726	c.695A>G	c.(694-696)CAA>CGA	p.Q232R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	232					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114304425	114304425	+	Missense_Mutation	SNP	A	G	G	rs145154396	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:114304425A>G	uc003vhb.2	+	16	2311	c.1937A>G	c.(1936-1938)AAT>AGT	p.N646S	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N671S|FOXP2_uc003vha.2_Missense_Mutation_p.N554S|FOXP2_uc011kmu.1_Missense_Mutation_p.N663S|FOXP2_uc011kmv.1_Missense_Mutation_p.N645S|FOXP2_uc010ljz.1_Missense_Mutation_p.N461S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	646					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8																		---	---	---	---
MET	4233	broad.mit.edu	37	7	116339390	116339390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339390C>T	uc003vij.2	+	2	439	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	MET_uc010lkh.2_Silent_p.Y84Y|MET_uc011knc.1_Silent_p.Y84Y|MET_uc011knd.1_Silent_p.Y84Y|MET_uc011kne.1_Silent_p.Y84Y|MET_uc011knf.1_Silent_p.Y84Y|MET_uc011kng.1_Silent_p.Y84Y|MET_uc011knh.1_Silent_p.Y84Y|MET_uc011kni.1_Silent_p.Y84Y|MET_uc003vii.1_Silent_p.Y103Y|MET_uc010lkg.2_Silent_p.Y84Y|MET_uc011kmz.1_Silent_p.Y84Y|MET_uc011kna.1_Silent_p.Y84Y|MET_uc011knb.1_Silent_p.Y84Y	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	84	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
MET	4233	broad.mit.edu	37	7	116339813	116339813	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339813T>C	uc003vij.2	+	2	862	c.675T>C	c.(673-675)GGT>GGC	p.G225G	MET_uc010lkh.2_Silent_p.G225G|MET_uc011knc.1_Silent_p.G225G|MET_uc011knd.1_Silent_p.G225G|MET_uc011kne.1_Silent_p.G225G|MET_uc011knf.1_Silent_p.G225G|MET_uc011kng.1_Silent_p.G225G|MET_uc011knh.1_Silent_p.G225G|MET_uc011kni.1_Silent_p.G225G|MET_uc003vii.1_Silent_p.G244G|MET_uc010lkg.2_Silent_p.G225G|MET_uc011kmz.1_Silent_p.G225G|MET_uc011kna.1_Silent_p.G225G|MET_uc011knb.1_Silent_p.G225G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	225	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
ST7	7982	broad.mit.edu	37	7	116861965	116861965	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116861965T>C	uc003vin.2	+						ST7_uc011knl.1_Intron|ST7_uc003vio.2_Intron|ST7_uc003viq.2_Intron|ST7_uc011knm.1_Intron|ST7_uc003vir.2_Intron|ST7_uc011knn.1_Intron	NM_021908	NP_068708			suppression of tumorigenicity 7 isoform b							integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955236	116955236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116955236A>T	uc003viz.2	-	3	777	c.477T>A	c.(475-477)GAT>GAA	p.D159E	WNT2_uc003vja.2_Missense_Mutation_p.D63E	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	159					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116960775	116960775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116960775C>T	uc003viz.2	-	2	456	c.156G>A	c.(154-156)CGG>CGA	p.R52R	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431265	117431265	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117431265A>G	uc003vjf.2	-	4	2077	c.1985T>C	c.(1984-1986)ATT>ACT	p.I662T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	662										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432080	117432080	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117432080T>C	uc003vjf.2	-	4	1262	c.1170A>G	c.(1168-1170)TCA>TCG	p.S390S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	390	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117876922	117876922	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117876922T>C	uc003vji.2	+	5	827	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	218	ANK 5.				male gonad development						0																		---	---	---	---
TSPAN12	23554	broad.mit.edu	37	7	120496772	120496772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120496772C>T	uc003vjk.2	-	2	420	c.46G>A	c.(46-48)GCC>ACC	p.A16T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	16	Helical; (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)																	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121650696	121650696	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121650696A>C	uc003vjy.2	+	12	1991	c.1596A>C	c.(1594-1596)GAA>GAC	p.E532D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.E532D|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	532	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121652348	121652348	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121652348C>T	uc003vjy.2	+	12	3643	c.3248C>T	c.(3247-3249)GCG>GTG	p.A1083V	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1083	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121694043	121694043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121694043G>A	uc003vjy.2	+	26	6727	c.6332G>A	c.(6331-6333)TGG>TAG	p.W2111*	PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.W1244*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.W701*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2111	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121719675	121719675	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121719675T>C	uc003vka.2	-	20	2468	c.2372A>G	c.(2371-2373)AAT>AGT	p.N791S	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.N791S|AASS_uc011knw.1_Missense_Mutation_p.N279S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	791	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
AASS	10157	broad.mit.edu	37	7	121773641	121773641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121773641A>G	uc003vka.2	-	1	236	c.140T>C	c.(139-141)ATC>ACC	p.I47T	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.I47T|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	47	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	121960379	121960379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121960379T>C	uc010lkp.2	-	29	3894	c.3731A>G	c.(3730-3732)GAC>GGC	p.D1244G	CADPS2_uc011knx.1_Missense_Mutation_p.D619G|CADPS2_uc003vkg.3_Missense_Mutation_p.D898G|CADPS2_uc010lkq.2_Missense_Mutation_p.D1203G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1244					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342388	122342388	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122342388T>A	uc003vkk.1	-	1	634	c.417A>T	c.(415-417)GTA>GTT	p.V139V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	139	PA.					integral to membrane	zinc ion binding				0																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635453	122635453	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635453C>A	uc003vkl.1	-	1	302	c.236G>T	c.(235-237)TGC>TTC	p.C79F		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	79	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635559	122635559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635559G>A	uc003vkl.1	-	1	196	c.130C>T	c.(130-132)CCT>TCT	p.P44S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	44	Helical; Name=2; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635650	122635650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635650G>T	uc003vkl.1	-	1	105	c.39C>A	c.(37-39)ATC>ATA	p.I13I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	13	Helical; Name=1; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124387074	124387074	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:124387074A>G	uc003vli.2	-	2	1998	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	449	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173162	126173162	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173162G>A	uc003vlr.2	-	8	2585	c.2274C>T	c.(2272-2274)CTC>CTT	p.L758L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L758L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	758	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127238634	127238634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127238634A>G	uc003vmd.1	+	4	1325	c.1106A>G	c.(1105-1107)AAT>AGT	p.N369S	FSCN3_uc011koh.1_Missense_Mutation_p.N235S|FSCN3_uc010llc.1_Missense_Mutation_p.N369S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	369						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127240464	127240464	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127240464G>T	uc003vmd.1	+						FSCN3_uc010llc.1_Intron	NM_020369	NP_065102			fascin 3							actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127361418	127361418	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127361418C>T	uc003vmi.2	+	10	1342	c.1116C>T	c.(1114-1116)AGC>AGT	p.S372S	SND1_uc010lle.2_Silent_p.S25S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	372	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127731895	127731895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127731895G>A	uc003vmi.2	+	23	2855	c.2629G>A	c.(2629-2631)GAA>AAA	p.E877K	SND1_uc010lle.2_Missense_Mutation_p.E530K	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	877					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128038643	128038643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128038643C>T	uc011kol.1	-	7	750	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	IMPDH1_uc011kom.1_Missense_Mutation_p.C210Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.C190Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.C300Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.C290Y|IMPDH1_uc011kon.1_Missense_Mutation_p.C267Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.C264Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.C223Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.C231Y	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	215	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128452045	128452045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128452045C>T	uc003vnv.1	+	13	2587	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.S556S|CCDC136_uc010llq.1_Silent_p.S109S|CCDC136_uc003vny.1_Silent_p.S350S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	740						integral to membrane	protein binding			ovary(2)	2																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128470877	128470877	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128470877C>T	uc003vnz.3	+	1	395	c.186C>T	c.(184-186)CGC>CGT	p.R62R	FLNC_uc003voa.3_Silent_p.R62R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	62	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478072	128478072	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128478072G>A	uc003vnz.3	+	6	1210	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	FLNC_uc003voa.3_Missense_Mutation_p.R334H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	334	Filamin 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610202	128610202	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128610202C>T	uc003vol.1	-	20	2972	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	TNPO3_uc010llx.1_Silent_p.P277P|TNPO3_uc003vom.1_Silent_p.P800P|TNPO3_uc010lly.1_Silent_p.P900P|TNPO3_uc010llz.1_Silent_p.P802P	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	866					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128804332	128804332	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128804332T>C	uc003vop.1	+	5	610	c.381T>C	c.(379-381)AGT>AGC	p.S127S	TSPAN33_uc003voq.1_5'Flank	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	127	Extracellular (Potential).					integral to membrane				ovary(1)	1																OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SMO	6608	broad.mit.edu	37	7	128843398	128843398	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128843398T>G	uc003vor.2	+	2	785	c.505T>G	c.(505-507)TGC>GGC	p.C169G		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	169	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37								Mis		skin basal cell 								---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122759	129122759	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122759T>A	uc011koy.1	+	20	2166	c.2126T>A	c.(2125-2127)GTC>GAC	p.V709D	FAM40B_uc003vow.2_Missense_Mutation_p.V709D|FAM40B_uc011koz.1_Missense_Mutation_p.V201D	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	709											0																		---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122851C>T	uc011koy.1	+	20	2258	c.2218C>T	c.(2218-2220)CGT>TGT	p.R740C	FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	740											0																		---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131113829	131113829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131113829A>G	uc011kpm.1	+	9	949	c.885A>G	c.(883-885)CAA>CAG	p.Q295Q	MKLN1_uc011kpl.1_Silent_p.Q272Q|MKLN1_uc010lmh.2_Silent_p.Q295Q|MKLN1_uc003vqs.2_Silent_p.Q88Q	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	295	Kelch 1.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)																	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131883351	131883351	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131883351A>C	uc003vra.3	-	13	2860	c.2631T>G	c.(2629-2631)ACT>ACG	p.T877T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	877	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131982870	131982870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131982870A>G	uc003vra.3	-	4	1712	c.1483T>C	c.(1483-1485)TAC>CAC	p.Y495H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	495	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132192892	132192892	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132192892C>T	uc003vra.3	-	2	790	c.561G>A	c.(559-561)ACG>ACA	p.T187T	PLXNA4_uc003vrc.2_Silent_p.T187T|PLXNA4_uc003vrb.2_Silent_p.T187T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	187	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132959843	132959843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132959843C>T	uc003vrk.2	+	2	228	c.193C>T	c.(193-195)CAC>TAC	p.H65Y	EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.H65Y|EXOC4_uc003vrj.2_Missense_Mutation_p.H65Y	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	65	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133002097	133002097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133002097G>A	uc003vrk.2	+	5	751	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	EXOC4_uc011kpo.1_Missense_Mutation_p.R138Q|EXOC4_uc003vri.2_Missense_Mutation_p.R239Q|EXOC4_uc003vrj.2_Missense_Mutation_p.R239Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	239					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134133174	134133174	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134133174G>A	uc003vrp.1	-	6	698	c.624C>T	c.(622-624)ACC>ACT	p.T208T	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	208					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)													---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134221503	134221503	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134221503A>G	uc003vrr.2	+	5	851	c.531A>G	c.(529-531)AAA>AAG	p.K177K		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	177					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5																		---	---	---	---
BPGM	669	broad.mit.edu	37	7	134346583	134346583	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134346583T>C	uc003vrv.2	+	3	865	c.324T>C	c.(322-324)GGT>GGC	p.G108G	BPGM_uc003vrw.2_Silent_p.G108G|BPGM_uc003vrx.2_Silent_p.G108G	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	108					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135098336	135098336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135098336G>A	uc003vsv.1	-	6	895	c.588C>T	c.(586-588)TGC>TGT	p.C196C	CNOT4_uc003vss.2_Silent_p.C196C|CNOT4_uc011kpz.1_Silent_p.C196C|CNOT4_uc003vst.2_Silent_p.C196C|CNOT4_uc003vsu.1_Silent_p.C196C|CNOT4_uc011kpy.1_Silent_p.C196C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	196	C3H1-type.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135282958	135282958	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135282958T>C	uc003vsw.2	+							NM_015135	NP_055950			nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135292081	135292081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135292081G>A	uc003vsw.2	+	22	3188	c.3157G>A	c.(3157-3159)GTG>ATG	p.V1053M		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1053					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135304309	135304309	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135304309G>A	uc003vsw.2	+	29	4133	c.4102G>A	c.(4102-4104)GCT>ACT	p.A1368T	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1368					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135309918	135309918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135309918G>A	uc003vsw.2	+	32	4517	c.4486G>A	c.(4486-4488)GCC>ACC	p.A1496T	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1496					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135333207	135333207	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135333207A>T	uc003vsw.2	+	43	5973	c.5942A>T	c.(5941-5943)GAC>GTC	p.D1981V	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1981					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135392908	135392908	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135392908G>A	uc003vta.2	-	3	1008	c.319C>T	c.(319-321)CGC>TGC	p.R107C	SLC13A4_uc003vtb.2_Missense_Mutation_p.R107C|SLC13A4_uc003vtc.1_Missense_Mutation_p.R107C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	107						integral to plasma membrane	sodium:sulfate symporter activity				0																		---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136587912	136587912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136587912T>C	uc003vtf.1	+						CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron|MIR490_hsa-mir-490|MI0003125_5'Flank	NM_001006630	NP_001006631			cholinergic receptor, muscarinic 2						activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137282651	137282651	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137282651A>C	uc003vtt.2	-	12	1254	c.1253T>G	c.(1252-1254)CTT>CGT	p.L418R	DGKI_uc003vtu.2_Missense_Mutation_p.L118R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	418	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137590509	137590509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137590509A>G	uc003vtw.2	-	6	1249	c.854T>C	c.(853-855)TTG>TCG	p.L285S	CREB3L2_uc003vtx.1_Missense_Mutation_p.L285S|CREB3L2_uc003vtv.2_Missense_Mutation_p.L222S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	285	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160								T	FUS	fibromyxoid sarcoma								---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137773399	137773399	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137773399A>G	uc003vtz.2	+	2	215	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	AKR1D1_uc011kqb.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqf.1_Missense_Mutation_p.Y49C	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	49					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138210040	138210040	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138210040A>G	uc003vuc.2	+	5	1034	c.819A>G	c.(817-819)CTA>CTG	p.L273L	TRIM24_uc003vub.2_Silent_p.L273L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	273					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138235936	138235936	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138235936A>G	uc003vuc.2	+						TRIM24_uc003vub.2_Intron	NM_015905	NP_056989			transcriptional intermediary factor 1 alpha						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138556002	138556002	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138556002A>G	uc011kql.1	-	13	4501	c.4452T>C	c.(4450-4452)AGT>AGC	p.S1484S	KIAA1549_uc011kqi.1_Silent_p.S268S|KIAA1549_uc003vuk.3_Silent_p.S1434S|KIAA1549_uc011kqj.1_Silent_p.S1484S|KIAA1549_uc011kqk.1_Silent_p.S268S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1484						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603255	138603255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603255A>G	uc011kql.1	-	2	1166	c.1117T>C	c.(1117-1119)TCA>CCA	p.S373P	KIAA1549_uc003vuk.3_Missense_Mutation_p.S323P|KIAA1549_uc011kqj.1_Missense_Mutation_p.S373P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	373						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603418	138603418	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603418A>G	uc011kql.1	-	2	1003	c.954T>C	c.(952-954)AGT>AGC	p.S318S	KIAA1549_uc003vuk.3_Silent_p.S268S|KIAA1549_uc011kqj.1_Silent_p.S318S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	318						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603691	138603691	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603691A>T	uc011kql.1	-	2	730	c.681T>A	c.(679-681)AGT>AGA	p.S227R	KIAA1549_uc003vuk.3_Missense_Mutation_p.S177R|KIAA1549_uc011kqj.1_Missense_Mutation_p.S227R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	227						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764213	138764213	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764213T>C	uc003vun.2	-						ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Intron	NM_020119	NP_064504			zinc finger antiviral protein isoform 1						response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764925	138764925	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764925A>G	uc003vun.2	-	4	1150	c.762T>C	c.(760-762)TTT>TTC	p.F254F	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.F254F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	254	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138854101	138854101	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138854101A>G	uc003vus.2	+						TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_Intron|TTC26_uc003vut.2_Intron|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202			tetratricopeptide repeat domain 26 isoform 1								binding			ovary(1)	1																		---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138968607	138968607	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138968607A>G	uc011kqr.1	+	15	2956	c.2956A>G	c.(2956-2958)ACC>GCC	p.T986A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	986	Ser-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KLRG2	346689	broad.mit.edu	37	7	139168212	139168212	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139168212G>A	uc003vvb.2	-	1	246	c.177C>T	c.(175-177)GGC>GGT	p.G59G	KLRG2_uc010lnc.2_Silent_p.G59G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	59	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)																	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139415909	139415909	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139415909C>A	uc003vvf.3	-	2	1099	c.925G>T	c.(925-927)GCC>TCC	p.A309S	HIPK2_uc003vvd.3_Missense_Mutation_p.A309S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	309	Protein kinase.|Interaction with DAXX.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)																	---	---	---	---
JHDM1D	80853	broad.mit.edu	37	7	139826622	139826622	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139826622T>A	uc003vvm.2	-	6	707	c.703A>T	c.(703-705)ATG>TTG	p.M235L		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	235	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)																	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140439719	140439719	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140439719G>A	uc003vwc.3	-	17	2081	c.2020C>T	c.(2020-2022)CTG>TTG	p.L674L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	674	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
AGK	55750	broad.mit.edu	37	7	141341172	141341172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141341172C>T	uc003vwi.2	+	12	1022	c.851C>T	c.(850-852)GCG>GTG	p.A284V	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	284					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)																	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141422951	141422951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141422951G>A	uc003vwn.2	+	6	1304	c.898G>A	c.(898-900)GCT>ACT	p.A300T	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	300	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)																	---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464641	141464641	+	Missense_Mutation	SNP	C	T	T	rs149980259		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141464641C>T	uc003vwp.1	+	1	745	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	228	Cytoplasmic (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478688	141478688	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141478688C>T	uc003vwq.1	+	1	400	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	134	Helical; Name=4; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)														---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141724940	141724940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141724940A>G	uc003vwy.2	+	8	1027	c.973A>G	c.(973-975)AAT>GAT	p.N325D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	325	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765238	141765238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141765238G>A	uc003vwy.2	+	38	4642	c.4588G>A	c.(4588-4590)GCA>ACA	p.A1530T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1530	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	142495163	142495163	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142495163C>T	uc011ksh.1	+						uc011ksi.1_Intron|uc003vzw.1_RNA|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_5'Flank|uc003wbe.3_Intron|uc003wbf.3_Intron|uc003wbg.3_Intron|uc003wbh.3_Intron|uc003wbi.3_Intron|uc003wbj.3_Intron|uc003wbm.3_Intron|uc003wbn.3_Intron|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	142499034	142499034	+	RNA	SNP	C	T	T	rs61732509	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142499034C>T	uc011ksh.1	+	3		c.413C>T			uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Missense_Mutation_p.S150L|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142611854	142611854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142611854C>T	uc003wby.1	-	12	1739	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	492	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)																	---	---	---	---
C7orf34	135927	broad.mit.edu	37	7	142637475	142637475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142637475C>T	uc003wca.2	+	2	286	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	57						extracellular region					0	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142638398	142638398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142638398A>G	uc003wcb.2	-	19	2350	c.2140T>C	c.(2140-2142)TAT>CAT	p.Y714H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	714	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142640415	142640415	+	Silent	SNP	G	A	A	rs145850557		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142640415G>A	uc003wcb.2	-	16	1929	c.1719C>T	c.(1717-1719)GGC>GGT	p.G573G		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	573	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881269	142881269	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881269G>T	uc011ksw.1	+	1	758	c.758G>T	c.(757-759)AGC>ATC	p.S253I		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	253	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881406	142881406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881406A>G	uc011ksw.1	+	1	895	c.895A>G	c.(895-897)ATC>GTC	p.I299V		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	299	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919425	142919425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142919425G>A	uc011ksx.1	+	1	254	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143013357	143013357	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143013357A>G	uc003wcr.1	+	1	139	c.52A>G	c.(52-54)AGT>GGT	p.S18G	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	18	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143039041	143039041	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143039041T>C	uc003wcr.1	+	15	1689	c.1602T>C	c.(1600-1602)GGT>GGC	p.G534G	CLCN1_uc011ktc.1_Silent_p.G146G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	534					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747579	143747579	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143747579C>A	uc011ktw.1	+	1	85	c.85C>A	c.(85-87)CTT>ATT	p.L29I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)																	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143792746	143792746	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143792746C>A	uc011kty.1	+	1	546	c.546C>A	c.(544-546)TCC>TCA	p.S182S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)																	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144150652	144150652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144150652C>T	uc003weq.2	-	9	821	c.718G>A	c.(718-720)GCC>ACC	p.A240T	TPK1_uc003weo.2_Missense_Mutation_p.A186T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.A191T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	240					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707793	144707793	+	IGR	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707793C>G								TPK1 (174647 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707921	144707921	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707921A>T								TPK1 (174775 upstream) : None (None downstream)																																			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805249	146805249	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146805249T>A	uc003weu.1	+	5	1077	c.561T>A	c.(559-561)GTT>GTA	p.V187V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	187	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147844651	147844651	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147844651A>G	uc003weu.1	+	17	3139	c.2623A>G	c.(2623-2625)ACC>GCC	p.T875A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	875	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148497652	148497652	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148497652A>G	uc010lpg.2	+	22	2835	c.2309A>G	c.(2308-2310)GAC>GGC	p.D770G	CUL1_uc003wey.2_Missense_Mutation_p.D770G|CUL1_uc003wez.2_Missense_Mutation_p.D660G|CUL1_uc003wfa.2_Missense_Mutation_p.D431G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148525902	148525902	+	Silent	SNP	G	A	A	rs137864062		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148525902G>A	uc003wfd.1	-	6	721	c.555C>T	c.(553-555)GAC>GAT	p.D185D	EZH2_uc011kug.1_Silent_p.D176D|EZH2_uc003wfb.1_Silent_p.D185D|EZH2_uc003wfc.1_Silent_p.D146D|EZH2_uc011kuh.1_Silent_p.D176D|EZH2_uc011kui.1_Silent_p.D185D|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	185	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769148	148769148	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148769148T>A	uc003wfh.2	-	4	853	c.716A>T	c.(715-717)CAC>CTC	p.H239L	ZNF786_uc011kuk.1_Missense_Mutation_p.H202L|ZNF786_uc003wfi.2_Missense_Mutation_p.H153L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148800939	148800939	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148800939T>C	uc003wfj.2	-	4	2097	c.2024A>G	c.(2023-2025)TAC>TGC	p.Y675C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	675	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148895675	148895675	+	Missense_Mutation	SNP	C	T	T	rs139886507		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148895675C>T	uc003wfm.2	+	2	521	c.416C>T	c.(415-417)ACG>ATG	p.T139M	ZNF282_uc011kun.1_Missense_Mutation_p.T139M|ZNF282_uc003wfn.2_Missense_Mutation_p.T79M|ZNF282_uc003wfo.2_Missense_Mutation_p.T79M	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	139					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	148978623	148978623	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148978623C>T	uc003wfr.3	+						uc011kuo.1_5'Flank					Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.																														---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129101	149129101	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129101C>T	uc003wfv.2	-	6	2425	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129387	149129387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152807	149152807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149152807T>C	uc003wfv.2	-	2	470	c.307A>G	c.(307-309)ACC>GCC	p.T103A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149467579	149467579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149467579T>C	uc003wgd.2	-	3	242	c.101A>G	c.(100-102)CAG>CGG	p.Q34R	ZNF467_uc003wgc.2_Missense_Mutation_p.Q34R	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149516491	149516491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149516491G>A	uc010lpk.2	+	85	11894	c.11894G>A	c.(11893-11895)GGC>GAC	p.G3965D	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3965	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149529972	149529972	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149529972C>T	uc010lpk.2	+	111	15386	c.15386C>T	c.(15385-15387)CCG>CTG	p.P5129L	SSPO_uc003wgh.2_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	5129	CTCK.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149557749	149557749	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149557749A>G	uc010lpn.2	+	7	1692	c.1500A>G	c.(1498-1500)TCA>TCG	p.S500S	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	500	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1																		---	---	---	---
ATP6V0E2	155066	broad.mit.edu	37	7	149575841	149575841	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149575841T>C	uc003wgr.2	+						ATP6V0E2_uc003wgs.2_Intron|ATP6V0E2_uc003wgp.2_Missense_Mutation_p.V125A|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265			ATPase, H+ transporting, V0 subunit isoform 1						ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)															---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174507	150174507	+	Missense_Mutation	SNP	C	T	T	rs146125013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150174507C>T	uc003whj.2	+	5	1967	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150270151	150270151	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150270151T>C	uc003whl.2	+	3					GIMAP4_uc011kuu.1_3'UTR|GIMAP4_uc011kuv.1_3'UTR	NM_018326	NP_060796			GTPase, IMAP family member 4								GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553893	150553893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553893C>T	uc003why.1	+	3	4553	c.335C>T	c.(334-336)ACC>ATC	p.T112I	ABP1_uc003whz.1_Missense_Mutation_p.T112I|ABP1_uc003wia.1_Missense_Mutation_p.T112I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	112					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553979	150553979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553979A>G	uc003why.1	+	3	4639	c.421A>G	c.(421-423)AGG>GGG	p.R141G	ABP1_uc003whz.1_Missense_Mutation_p.R141G|ABP1_uc003wia.1_Missense_Mutation_p.R141G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	141					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150555934	150555934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150555934C>T	uc003why.1	+	4	5872	c.1654C>T	c.(1654-1656)CCA>TCA	p.P552S	ABP1_uc003whz.1_Missense_Mutation_p.P552S|ABP1_uc003wia.1_Missense_Mutation_p.P552S	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	552					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150715789	150715789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150715789T>C	uc011kvc.1	-	6	1712	c.1636A>G	c.(1636-1638)ACC>GCC	p.T546A	ATG9B_uc003wig.3_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	546	Helical; (Potential).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150752108	150752108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150752108G>T	uc003wir.1	-							NM_004935	NP_004926			cyclin-dependent kinase 5 isoform 1						activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)														---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150932145	150932145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150932145T>A	uc003wjr.1	+	2	1788	c.275T>A	c.(274-276)ATC>AAC	p.I92N	CHPF2_uc003wjq.1_Missense_Mutation_p.I84N	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1																		---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151049913	151049913	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151049913T>C	uc003wjx.2	+	5	437	c.432T>C	c.(430-432)TTT>TTC	p.F144F	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.F120F|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_5'Flank	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151053219	151053219	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151053219G>T	uc003wjx.2	+	7	681	c.676G>T	c.(676-678)GAG>TAG	p.E226*	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Nonsense_Mutation_p.E202*|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	202	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151716738	151716738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151716738T>C	uc003wkp.2	+	9	1407	c.1184T>C	c.(1183-1185)TTT>TCT	p.F395S	GALNTL5_uc003wkq.2_Missense_Mutation_p.F146S|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.F284S	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	395	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151845492	151845492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151845492T>C	uc003wla.2	-	52	13739	c.13520A>G	c.(13519-13521)AAA>AGA	p.K4507R	MLL3_uc003wkz.2_Missense_Mutation_p.K3625R|MLL3_uc003wkx.2_Missense_Mutation_p.K665R|MLL3_uc003wky.2_Missense_Mutation_p.K2071R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4507					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151859810	151859810	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151859810A>T	uc003wla.2	-	43	11071	c.10852T>A	c.(10852-10854)TCC>ACC	p.S3618T	MLL3_uc003wkz.2_Missense_Mutation_p.S2679T|MLL3_uc003wky.2_Missense_Mutation_p.S1127T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3618					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151864460	151864460	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151864460T>A	uc003wla.2	-	42	9740	c.9521A>T	c.(9520-9522)GAT>GTT	p.D3174V	MLL3_uc003wkz.2_Missense_Mutation_p.D2235V|MLL3_uc003wky.2_Missense_Mutation_p.D683V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3174	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151873608	151873608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151873608G>T	uc003wla.2	-	38	9149	c.8930C>A	c.(8929-8931)TCT>TAT	p.S2977Y	MLL3_uc003wkz.2_Missense_Mutation_p.S2038Y|MLL3_uc003wky.2_Missense_Mutation_p.S486Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2977					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151874681	151874681	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151874681T>C	uc003wla.2	-	38	8076	c.7857A>G	c.(7855-7857)CTA>CTG	p.L2619L	MLL3_uc003wkz.2_Silent_p.L1680L|MLL3_uc003wky.2_Silent_p.L128L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2619	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151917681	151917681	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151960175	151960175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151960175A>G	uc003wla.2	-	9	1444	c.1225T>C	c.(1225-1227)TGT>CGT	p.C409R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	409	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346370	152346370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152346370A>G	uc003wld.2	-	3	286	c.200T>C	c.(199-201)CTT>CCT	p.L67P		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	67					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)									Homologous_recombination					---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154645512	154645512	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154645512G>A	uc003wlk.2	+	17	1818	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	DPP6_uc003wli.2_Silent_p.T499T|DPP6_uc003wlm.2_Silent_p.T501T|DPP6_uc011kvq.1_Silent_p.T456T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	563	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154863077	154863077	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154863077C>T	uc003wlu.1	+	1	532	c.468C>T	c.(466-468)TGC>TGT	p.C156C	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	156	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)														---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094494	155094494	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155094494C>A	uc003wly.2	+	5	953	c.742C>A	c.(742-744)CTC>ATC	p.L248I	INSIG1_uc011kvu.1_Missense_Mutation_p.L96I|INSIG1_uc003wlz.2_Silent_p.G150G	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	248	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156758976	156758976	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156758976G>T	uc003wmy.2	+	8	2061	c.2046G>T	c.(2044-2046)AAG>AAT	p.K682N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	682	MI.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)														---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157009567	157009567	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157009567A>T	uc010lqs.2	+	14	2128	c.1816A>T	c.(1816-1818)ACC>TCC	p.T606S	UBE3C_uc003wng.2_Missense_Mutation_p.T606S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	606					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)														---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157985112	157985112	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157985112T>A	uc003wno.2	-	5	577	c.456A>T	c.(454-456)CGA>CGT	p.R152R	PTPRN2_uc003wnp.2_Silent_p.R135R|PTPRN2_uc003wnq.2_Silent_p.R152R|PTPRN2_uc003wnr.2_Silent_p.R114R|PTPRN2_uc011kwa.1_Silent_p.R175R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158447815	158447815	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158447815T>C	uc003wnv.1	-	21	2786	c.2641A>G	c.(2641-2643)ATC>GTC	p.I881V	NCAPG2_uc010lqu.1_Missense_Mutation_p.I673V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwe.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwc.1_Missense_Mutation_p.I382V|NCAPG2_uc011kwd.1_Missense_Mutation_p.I324V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	881					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158829484	158829484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158829484G>A	uc003woh.2	-	7	893	c.707C>T	c.(706-708)CCC>CTC	p.P236L	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	236	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
ZNF596	169270	broad.mit.edu	37	8	196313	196313	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:196313A>G	uc003wot.2	+	6	1754	c.1466A>G	c.(1465-1467)AAC>AGC	p.N489S	ZNF596_uc003wou.2_Missense_Mutation_p.N388S|ZNF596_uc003wov.2_Missense_Mutation_p.N489S|ZNF596_uc003wow.2_Missense_Mutation_p.N489S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	489	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)														---	---	---	---
C8orf42	157695	broad.mit.edu	37	8	442651	442651	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:442651T>G	uc003wpd.2	-	3	880	c.306A>C	c.(304-306)AAA>AAC	p.K102N	C8orf42_uc011kwg.1_Missense_Mutation_p.K102N	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	102											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)														---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	614628	614628	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:614628A>T	uc003wph.2	-	6	1372	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	436										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497551	1497551	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497551C>T	uc003wpl.2	+	2	789	c.692C>T	c.(691-693)ACG>ATG	p.T231M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497607	1497607	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497607G>A	uc003wpl.2	+	2	845	c.748G>A	c.(748-750)GCG>ACG	p.A250T	DLGAP2_uc003wpm.2_Missense_Mutation_p.A250T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1719553	1719553	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1719553G>A	uc003wpo.3	+	2	638	c.333G>A	c.(331-333)ACG>ACA	p.T111T		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	111	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1828298	1828298	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1828298A>T	uc003wpr.2	+	9	1106	c.928A>T	c.(928-930)ATT>TTT	p.I310F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.I335F|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	335	Potential.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851564	1851564	+	Missense_Mutation	SNP	C	T	T	rs141069028		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851564C>T	uc003wpr.2	+	16	1946	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.R614C|ARHGEF10_uc003wps.2_Missense_Mutation_p.R552C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.R466C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.R323C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R270C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	615					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1877548	1877548	+	Silent	SNP	G	A	A	rs148672492	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1877548G>A	uc003wpr.2	+	25	3196	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T	ARHGEF10_uc003wps.2_Silent_p.T968T|ARHGEF10_uc010lre.2_Silent_p.T657T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1031					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1904934	1904934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1904934C>T	uc003wpr.2	+	29	3718	c.3540C>T	c.(3538-3540)TAC>TAT	p.Y1180Y	ARHGEF10_uc003wps.2_Silent_p.Y1142Y|ARHGEF10_uc010lre.2_Silent_p.Y831Y	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1205					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2005502	2005502	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2005502G>T	uc003wpx.3	+	4	438	c.300G>T	c.(298-300)AAG>AAT	p.K100N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	100					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2037899	2037899	+	Silent	SNP	C	G	G	rs144220288		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2037899C>G	uc003wpx.3	+	15	1851	c.1713C>G	c.(1711-1713)GCC>GCG	p.A571A	MYOM2_uc011kwi.1_5'UTR	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	571	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2056581	2056581	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2056581C>T	uc003wpx.3	+	24	3141	c.3003C>T	c.(3001-3003)CTC>CTT	p.L1001L	MYOM2_uc011kwi.1_Silent_p.L426L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1001	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830724	2830724	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830724A>T	uc011kwk.1	-	57	9231	c.8841T>A	c.(8839-8841)TGT>TGA	p.C2947*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.C2276*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.C957*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2947	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830828	2830828	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830828A>G	uc011kwk.1	-						CSMD1_uc011kwj.1_Intron|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094			CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3038700	3038700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3038700T>C	uc011kwk.1	-	37	6050	c.5660A>G	c.(5659-5661)AAC>AGC	p.N1887S	CSMD1_uc011kwj.1_Missense_Mutation_p.N1279S|CSMD1_uc003wqe.2_Missense_Mutation_p.N1043S|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1887	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087575	3087575	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087575A>G	uc011kwk.1	-	27	4725	c.4335T>C	c.(4333-4335)CCT>CCC	p.P1445P	CSMD1_uc011kwj.1_Silent_p.P837P|CSMD1_uc003wqe.2_Silent_p.P601P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1445	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087584	3087584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087584T>C	uc011kwk.1	-	27	4716	c.4326A>G	c.(4324-4326)CAA>CAG	p.Q1442Q	CSMD1_uc011kwj.1_Silent_p.Q834Q|CSMD1_uc003wqe.2_Silent_p.Q598Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1442	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165968	3165968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3474301	3474301	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3474301G>A	uc011kwk.1	-	8	1418	c.1028C>T	c.(1027-1029)GCA>GTA	p.A343V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	343	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302609	6302609	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302609T>A	uc003wqi.2	+	8	1434	c.1366T>A	c.(1366-1368)TTT>ATT	p.F456I	MCPH1_uc003wqh.2_Missense_Mutation_p.F456I|MCPH1_uc011kwl.1_Missense_Mutation_p.F408I	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	456						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302810	6302810	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302810A>G	uc003wqi.2	+	8	1635	c.1567A>G	c.(1567-1569)AAT>GAT	p.N523D	MCPH1_uc003wqh.2_Missense_Mutation_p.N523D|MCPH1_uc011kwl.1_Missense_Mutation_p.N475D	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	523						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)														---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8185778	8185778	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8185778G>A	uc003wsh.3	-	4	2514	c.2514C>T	c.(2512-2514)CCC>CCT	p.P838P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	838							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234932	8234932	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8234932G>T	uc003wsh.3	-	2	987	c.987C>A	c.(985-987)TCC>TCA	p.S329S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	329							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748972	8748972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8748972A>G	uc003wsj.1	-	1	2160	c.1597T>C	c.(1597-1599)TGC>CGC	p.C533R		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	533	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998972	8998972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998972A>G	uc003wsn.3	-	2	355	c.190T>C	c.(190-192)TCC>CCC	p.S64P	PPP1R3B_uc003wso.3_Missense_Mutation_p.S63P	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	64					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8999110	8999110	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8999110G>A	uc003wsn.3	-	2	217	c.52C>T	c.(52-54)CGC>TGC	p.R18C	PPP1R3B_uc003wso.3_Missense_Mutation_p.R17C	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	18					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9413539	9413539	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9413539A>G	uc003wss.2	+	1	95	c.90A>G	c.(88-90)CCA>CCG	p.P30P	TNKS_uc011kwv.1_Silent_p.P30P|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	30	Poly-Pro.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9622236	9622236	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9622236C>G	uc003wss.2	+	23	3388	c.3383C>G	c.(3382-3384)ACT>AGT	p.T1128S	TNKS_uc011kww.1_Missense_Mutation_p.T891S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1128	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464716	10464716	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10464716G>A	uc003wtc.2	-	4	7121	c.6892C>T	c.(6892-6894)CCT>TCT	p.P2298S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2298					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465537	10465537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10465537T>C	uc003wtc.2	-	4	6300	c.6071A>G	c.(6070-6072)GAG>GGG	p.E2024G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2024					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466551	10466551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466551G>A	uc003wtc.2	-	4	5286	c.5057C>T	c.(5056-5058)GCC>GTC	p.A1686V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1686					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466938	10466938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466938G>A	uc003wtc.2	-	4	4899	c.4670C>T	c.(4669-4671)GCG>GTG	p.A1557V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1557					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468315	10468315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468315C>T	uc003wtc.2	-	4	3522	c.3293G>A	c.(3292-3294)AGC>AAC	p.S1098N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1098					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468389	10468389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468389C>T	uc003wtc.2	-	4	3448	c.3219G>A	c.(3217-3219)CGG>CGA	p.R1073R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10469390	10469390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10469390C>T	uc003wtc.2	-	4	2447	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	740					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470474	10470474	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10470474C>A	uc003wtc.2	-	4	1363	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	378					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
XKR6	286046	broad.mit.edu	37	8	11058241	11058241	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)														---	---	---	---
MTMR9	66036	broad.mit.edu	37	8	11167152	11167152	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11167152A>G	uc003wtm.2	+	6	1324	c.926A>G	c.(925-927)AAA>AGA	p.K309R	MTMR9_uc010lrx.2_Missense_Mutation_p.K202R|MTMR9_uc011kxa.1_Missense_Mutation_p.K224R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	309	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)														---	---	---	---
AMAC1L2	83650	broad.mit.edu	37	8	11189446	11189446	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11189446C>A	uc003wtp.1	+	1	952	c.831C>A	c.(829-831)GCC>GCA	p.A277A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	277	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)														---	---	---	---
BLK	640	broad.mit.edu	37	8	11414274	11414274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11414274G>A	uc003wty.2	+	9	1461	c.880G>A	c.(880-882)GAG>AAG	p.E294K	BLK_uc003wtz.2_Missense_Mutation_p.E223K	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---
DEFB135	613209	broad.mit.edu	37	8	11842018	11842018	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11842018C>T	uc003wuw.1	+	2	153	c.153C>T	c.(151-153)AAC>AAT	p.N51N		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	51					defense response to bacterium	extracellular region					0																		---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12598381	12598381	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12598381A>T	uc003wwd.1	-	3	1026	c.963_splice	c.e3+1	p.K321_splice	LONRF1_uc010lsp.1_Splice_Site	NM_152271	NP_689484			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
C8orf79	57604	broad.mit.edu	37	8	12870187	12870187	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12870187T>G	uc010lsq.2	+						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_5'UTR|C8orf79_uc010lsr.2_5'UTR	NM_020844	NP_065895			hypothetical protein LOC57604 isoform 1								methyltransferase activity				0																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12947943	12947943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12947943T>C	uc003wwm.2	-	15	4336	c.3892A>G	c.(3892-3894)ACC>GCC	p.T1298A	DLC1_uc003wwk.1_Missense_Mutation_p.T861A|DLC1_uc003wwl.1_Missense_Mutation_p.T895A|DLC1_uc011kxx.1_Missense_Mutation_p.T787A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1298					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957440	12957440	+	Silent	SNP	T	G	G	rs17854877		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12957440T>G	uc003wwm.2	-	9	2850	c.2406A>C	c.(2404-2406)CCA>CCC	p.P802P	DLC1_uc003wwk.1_Silent_p.P365P|DLC1_uc003wwl.1_Silent_p.P399P|DLC1_uc011kxx.1_Silent_p.P291P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	802					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357407	13357407	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357407A>G	uc003wwm.2	-	2	618	c.174T>C	c.(172-174)TGT>TGC	p.C58C	DLC1_uc003wwn.2_Silent_p.C58C|DLC1_uc011kxy.1_Silent_p.C58C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	58					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357493	13357493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357493C>A	uc003wwm.2	-	2	532	c.88G>T	c.(88-90)GCA>TCA	p.A30S	DLC1_uc003wwn.2_Missense_Mutation_p.A30S|DLC1_uc011kxy.1_Missense_Mutation_p.A30S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	30					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15480695	15480695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15480695G>A	uc003wwt.2	+	2	455	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	TUSC3_uc003wwr.2_Missense_Mutation_p.R82Q|TUSC3_uc003wws.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwu.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwv.2_Missense_Mutation_p.R82Q|TUSC3_uc003www.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R82Q	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	82					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16935341	16935341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16935341C>T	uc003wxd.2	+	4	659	c.617C>T	c.(616-618)TCG>TTG	p.S206L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	206						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
VPS37A	137492	broad.mit.edu	37	8	17137631	17137631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17137631G>A	uc003wxj.2	+	7	1161	c.808G>A	c.(808-810)GAT>AAT	p.D270N	VPS37A_uc003wxk.2_Missense_Mutation_p.D245N|VPS37A_uc003wxl.2_Missense_Mutation_p.D47N	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	270					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17157398	17157398	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17157398A>G	uc003wxm.2	-	14	2195	c.1956T>C	c.(1954-1956)TCT>TCC	p.S652S	MTMR7_uc011kya.1_Silent_p.S286S|MTMR7_uc011kyb.1_Silent_p.S243S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	652							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17198974	17198974	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17198974G>A	uc003wxm.2	-	6	869	c.630C>T	c.(628-630)TCC>TCT	p.S210S	MTMR7_uc003wxn.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17401121	17401121	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17401121C>T	uc011kyc.1	+	2	442	c.273C>T	c.(271-273)GCC>GCT	p.A91A	SLC7A2_uc011kyd.1_Silent_p.A131A|SLC7A2_uc011kye.1_Silent_p.A131A|SLC7A2_uc011kyf.1_Silent_p.A91A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	91	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17503433	17503433	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17503433T>G	uc003wxv.2	-	15					MTUS1_uc003wxt.2_3'UTR|MTUS1_uc011kyg.1_3'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_3'UTR|MTUS1_uc003wxs.2_3'UTR	NM_001001924	NP_001001924			mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)														---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17554837	17554837	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17554837G>A	uc003wxv.2	-						MTUS1_uc003wxt.2_Intron|MTUS1_uc011kyg.1_Intron|MTUS1_uc010lsy.2_Intron|MTUS1_uc003wxw.2_Intron|MTUS1_uc003wxs.2_Missense_Mutation_p.T17M	NM_001001924	NP_001001924			mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17810589	17810589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17810589C>T	uc003wyi.3	+	9	1604	c.1182C>T	c.(1180-1182)GTC>GTT	p.V394V	PCM1_uc011kyh.1_Silent_p.V394V|PCM1_uc003wyj.3_Silent_p.V394V|PCM1_uc003wyg.2_Silent_p.V394V|PCM1_uc003wyh.2_Silent_p.V433V|PCM1_uc010lta.1_Silent_p.V433V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	394					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
NAT1	9	broad.mit.edu	37	8	18079909	18079909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18079909A>G	uc010ltd.2	+	5	720	c.353A>G	c.(352-354)AAC>AGC	p.N118S	NAT1_uc003wyt.2_Missense_Mutation_p.N180S|NAT1_uc003wyu.2_Missense_Mutation_p.N118S|NAT1_uc003wyv.2_Missense_Mutation_p.N118S|NAT1_uc010ltc.2_Missense_Mutation_p.N118S|NAT1_uc003wys.2_Missense_Mutation_p.N180S|NAT1_uc003wyr.2_Missense_Mutation_p.N118S|NAT1_uc003wyq.2_Missense_Mutation_p.N118S|NAT1_uc011kyl.1_Missense_Mutation_p.N118S	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	118					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)														---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19276160	19276160	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19276160T>C	uc011kyn.1	-						CSGALNACT1_uc011kyo.1_Intron|CSGALNACT1_uc003wzg.2_Intron|CSGALNACT1_uc011kyp.1_Intron	NM_001130518	NP_001123990			chondroitin sulfate						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19681411	19681411	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19681411C>T	uc003wzj.2	+	7	823	c.692C>T	c.(691-693)TCA>TTA	p.S231L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	231					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19690705	19690705	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19690705G>A	uc003wzj.2	+	12	1534	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	468					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20074720	20074720	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20074720T>C	uc003wzp.2	+						ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684			vacuolar H+ATPase B2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110461	20110461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)														---	---	---	---
FGF17	8822	broad.mit.edu	37	8	21903733	21903733	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21903733A>G	uc003xag.2	+	3	193	c.181A>G	c.(181-183)ACC>GCC	p.T61A	FGF17_uc003xah.2_Missense_Mutation_p.T50A|FGF17_uc003xai.2_Missense_Mutation_p.T84A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	61					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)														---	---	---	---
EPB49	2039	broad.mit.edu	37	8	21926583	21926583	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21926583C>A	uc011kyt.1	+						EPB49_uc010ltl.2_Intron|EPB49_uc011kys.1_Intron|EPB49_uc010ltn.2_Intron|EPB49_uc011kyu.1_Intron|EPB49_uc011kyv.1_Intron|EPB49_uc010ltq.2_Intron	NM_001114136	NP_001107608			erythrocyte membrane protein band 4.9 isoform 1						actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976568	21976568	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976568T>G	uc003xas.2	-	16	3773	c.3108A>C	c.(3106-3108)TCA>TCC	p.S1036S	HR_uc003xat.2_Silent_p.S1036S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1036	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976797	21976797	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976797C>T	uc003xas.2	-	15	3643	c.2978_splice	c.e15-1	p.G993_splice	HR_uc003xat.2_Splice_Site_p.G993_splice	NM_005144	NP_005135			hairless protein isoform a								DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996041	21996041	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996041G>A	uc003xau.1	-	8	1186	c.733C>T	c.(733-735)CGG>TGG	p.R245W	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	245						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)												OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996183	21996183	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996183C>T	uc003xau.1	-	7	1130	c.677G>A	c.(676-678)CGT>CAT	p.R226H	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	226						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22006022	22006022	+	Missense_Mutation	SNP	C	T	T	rs113893603	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22006022C>T	uc003xav.2	-	8	1587	c.1298G>A	c.(1297-1299)CGC>CAC	p.R433H	LGI3_uc010ltu.2_Missense_Mutation_p.R409H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	433	EAR 5.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22012934	22012934	+	Silent	SNP	C	T	T	rs142850097		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22012934C>T	uc003xav.2	-	2	538	c.249G>A	c.(247-249)GCG>GCA	p.A83A	LGI3_uc010ltu.2_Silent_p.A83A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	83					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22105428	22105428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22105428C>T	uc003xbl.2	+	4	351	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Nonsense_Mutation_p.R90*|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	90					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22137081	22137081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22137081G>A	uc003xbn.2	+	2	330	c.182G>A	c.(181-183)AGG>AAG	p.R61K	PIWIL2_uc011kzf.1_Missense_Mutation_p.R61K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R61K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	61					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22163529	22163529	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22163529G>T	uc003xbn.2	+	13	1693	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	PIWIL2_uc011kzf.1_Missense_Mutation_p.K515N|PIWIL2_uc010ltv.2_Missense_Mutation_p.K515N	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	515					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22262401	22262401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22262401C>T	uc003xbq.3	+	2	353	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	SLC39A14_uc011kzg.1_Nonsense_Mutation_p.Q60*|SLC39A14_uc003xbp.3_Nonsense_Mutation_p.Q60*|SLC39A14_uc011kzh.1_Nonsense_Mutation_p.Q60*	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	60	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)														---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22864590	22864590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22864590A>G	uc003xcq.2	+	5	1369	c.832A>G	c.(832-834)ATC>GTC	p.I278V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I300V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I285V|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	278	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
TNFRSF10B	8795	broad.mit.edu	37	8	22881771	22881771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22881771T>A	uc003xcu.2	-	8	1232	c.939A>T	c.(937-939)GAA>GAT	p.E313D	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E78D|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E284D|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E133D|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E211D	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	313	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)														---	---	---	---
TNFRSF10C	8794	broad.mit.edu	37	8	22969324	22969324	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22969324A>G	uc003xcy.2	+	2	353	c.152A>G	c.(151-153)GAG>GGG	p.E51G	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	51	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23155621	23155621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23155621C>T	uc003xdh.1	-	14	2599	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	LOXL2_uc010lty.1_Silent_p.A255A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23167310	23167310	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23167310G>A	uc003xdh.1	-	10	2090	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	LOXL2_uc010lty.1_Missense_Mutation_p.A123V	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	584	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23177441	23177441	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23177441A>G	uc003xdh.1	-	8	1766	c.1427T>C	c.(1426-1428)GTC>GCC	p.V476A	LOXL2_uc010lty.1_Missense_Mutation_p.V15A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	476	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23198524	23198524	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23198524A>G	uc003xdh.1	-	4	1063	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	uc003xdj.2_Intron|uc003xdi.2_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	242	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23538760	23538760	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23538760C>G	uc011kzx.1	-	2	727	c.679G>C	c.(679-681)GGC>CGC	p.G227R	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	227					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)														---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24200626	24200626	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24200626G>A	uc003xdy.2	+	17	1926	c.1843G>A	c.(1843-1845)GCA>ACA	p.A615T	ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.A302T	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	615	Extracellular (Potential).|Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)														---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24356804	24356804	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24356804G>A	uc003xeb.2	+	17	2011	c.1898G>A	c.(1897-1899)TGC>TAC	p.C633Y	ADAM7_uc003xec.2_Missense_Mutation_p.C405Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	633	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771921	24771921	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771921G>A	uc003xed.3	+	1	648	c.615G>A	c.(613-615)GCG>GCA	p.A205A	NEFM_uc011lac.1_Silent_p.A205A|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.S49S	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	205	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24772257	24772257	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24772257C>T	uc003xed.3	+	1	984	c.951C>T	c.(949-951)ATC>ATT	p.I317I	NEFM_uc011lac.1_Silent_p.I317I|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	317	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25203086	25203086	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25203086C>A	uc003xeg.2	+	26	2850	c.2713C>A	c.(2713-2715)CTT>ATT	p.L905I	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L619I|DOCK5_uc003xei.2_Missense_Mutation_p.L475I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	905						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25293964	25293964	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25293964T>C	uc003xeo.2	-	7	695	c.537A>G	c.(535-537)TCA>TCG	p.S179S	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25317936	25317936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25317936T>C	uc003xep.1	+	3	577	c.98T>C	c.(97-99)GTG>GCG	p.V33A	PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.V33A|CDCA2_uc003xeq.1_Missense_Mutation_p.V18A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	33					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25718615	25718615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25718615C>T	uc003xes.1	-	13	1309	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26220238	26220238	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26220238A>C	uc003xeu.2	+	7	978	c.676A>C	c.(676-678)ACA>CCA	p.T226P	PPP2R2A_uc003xek.2_Missense_Mutation_p.T227P|PPP2R2A_uc011laf.1_Missense_Mutation_p.T236P	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	226	WD 4.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26227921	26227921	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26227921G>A	uc003xeu.2	+	10	1638	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	PPP2R2A_uc003xek.2_Missense_Mutation_p.V447M|PPP2R2A_uc011laf.1_Missense_Mutation_p.V456M	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	446	WD 7.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722496	26722496	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26722496C>T	uc003xfh.1	-	1					ADRA1A_uc003xfc.1_5'UTR|ADRA1A_uc010lul.1_5'UTR|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_5'UTR|ADRA1A_uc010lum.1_5'UTR|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_5'UTR	NM_000680	NP_000671			alpha-1A-adrenergic receptor isoform 1						activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---
STMN4	81551	broad.mit.edu	37	8	27097663	27097663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27097663A>G	uc003xfk.2	-	5	449	c.335T>C	c.(334-336)CTC>CCC	p.L112P	STMN4_uc003xfj.2_Missense_Mutation_p.L139P|STMN4_uc011lai.1_Missense_Mutation_p.L139P|STMN4_uc011laj.1_Missense_Mutation_p.L103P|STMN4_uc011lak.1_Missense_Mutation_p.L139P|STMN4_uc010luo.2_Missense_Mutation_p.L112P			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	112	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)														---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27255114	27255114	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27255114T>A	uc003xfn.1	+	7	821	c.13T>A	c.(13-15)TCC>ACC	p.S5T	PTK2B_uc003xfo.1_Missense_Mutation_p.S5T|PTK2B_uc003xfp.1_Missense_Mutation_p.S5T|PTK2B_uc003xfq.1_Missense_Mutation_p.S5T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27382949	27382949	+	Missense_Mutation	SNP	G	A	A	rs148677997		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27382949G>A	uc003xfu.2	+	12	1210	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EPHX2_uc010lut.1_Missense_Mutation_p.A377T|EPHX2_uc010luu.2_Missense_Mutation_p.A345T|EPHX2_uc010luv.2_Missense_Mutation_p.A311T|EPHX2_uc003xfv.2_Missense_Mutation_p.A324T|EPHX2_uc010luw.2_Missense_Mutation_p.A311T	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	377	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
CLU	1191	broad.mit.edu	37	8	27457490	27457490	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27457490C>T	uc003xfw.1	-	6	1029	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	CLU_uc010lux.1_Missense_Mutation_p.R189Q|CLU_uc003xfx.1_Missense_Mutation_p.R324Q|CLU_uc003xfy.1_Missense_Mutation_p.R335Q|CLU_uc003xfz.1_Missense_Mutation_p.R376Q	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	324					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)														---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516928	27516928	+	Missense_Mutation	SNP	G	A	A	rs142551514		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27516928G>A	uc003xga.1	+	5	1382	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R414Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	414	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)														---	---	---	---
CCDC25	55246	broad.mit.edu	37	8	27606083	27606083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27606083T>C	uc003xgc.2	-	6	390	c.277A>G	c.(277-279)ACG>GCG	p.T93A	CCDC25_uc003xgd.2_Missense_Mutation_p.T25A|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	93											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)														---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27650265	27650265	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27650265T>C	uc003xgg.2	+	9	1517	c.1434T>C	c.(1432-1434)ACT>ACC	p.T478T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	478					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)										SC_Phocomelia_syndrome				---	---	---	---
PBK	55872	broad.mit.edu	37	8	27680702	27680702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27680702T>C	uc003xgi.2	-	4	374	c.173A>G	c.(172-174)CAT>CGT	p.H58R	PBK_uc011lap.1_Missense_Mutation_p.H58R	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	58	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737078	27737078	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737078C>T	uc003xgj.2	-						SCARA5_uc010luz.2_Intron	NM_173833	NP_776194			scavenger receptor class A, member 5						cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737144	27737144	+	Silent	SNP	G	A	A	rs138986901	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737144G>A	uc003xgj.2	-	8	1733	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SCARA5_uc010luz.2_Silent_p.C206C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	431	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27764677	27764677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27764677G>A	uc003xgj.2	-	6	1524	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	SCARA5_uc010luz.2_Missense_Mutation_p.R137C|SCARA5_uc003xgk.2_Missense_Mutation_p.R319C|SCARA5_uc003xgl.2_Missense_Mutation_p.R362C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28017959	28017959	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28017959A>G	uc003xgo.3	+	13	1619	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ELP3_uc003xgn.3_Missense_Mutation_p.K476E|ELP3_uc011laq.1_Missense_Mutation_p.K419E|ELP3_uc011lar.1_Missense_Mutation_p.K399E|ELP3_uc011las.1_Missense_Mutation_p.K372E|ELP3_uc011lat.1_Missense_Mutation_p.K372E	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	491	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28019591	28019591	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28019591A>G	uc003xgo.3	+	14	1711	c.1563A>G	c.(1561-1563)ATA>ATG	p.I521M	ELP3_uc003xgn.3_Missense_Mutation_p.I506M|ELP3_uc011laq.1_Missense_Mutation_p.I449M|ELP3_uc011lar.1_Missense_Mutation_p.I429M|ELP3_uc011las.1_Missense_Mutation_p.I402M|ELP3_uc011lat.1_Missense_Mutation_p.I402M	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	521	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210108	28210108	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210108A>T	uc003xgq.2	-	6	990	c.902T>A	c.(901-903)GTC>GAC	p.V301D	ZNF395_uc003xgt.2_Missense_Mutation_p.V301D|ZNF395_uc003xgr.2_Missense_Mutation_p.V301D|ZNF395_uc003xgs.2_Missense_Mutation_p.V301D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	301	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210168	28210168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210168T>C	uc003xgq.2	-	6	930	c.842A>G	c.(841-843)AAG>AGG	p.K281R	ZNF395_uc003xgt.2_Missense_Mutation_p.K281R|ZNF395_uc003xgr.2_Missense_Mutation_p.K281R|ZNF395_uc003xgs.2_Missense_Mutation_p.K281R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	281	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28413243	28413243	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28413243T>C	uc003xgx.2	+						FZD3_uc010lvb.2_Intron	NM_017412	NP_059108			frizzled 3 precursor						canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)														---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28608394	28608394	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28608394C>T	uc003xgz.1	+	7						NM_001440	NP_001431			exostoses-like 3							integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)														---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28625833	28625833	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28625833A>G	uc003xha.2	-	17	2106	c.1807T>C	c.(1807-1809)TTC>CTC	p.F603L	INTS9_uc011lav.1_Missense_Mutation_p.F579L|INTS9_uc011law.1_Missense_Mutation_p.F582L|INTS9_uc011lax.1_Missense_Mutation_p.F496L|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	603					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)														---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29025093	29025093	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29025093C>T	uc003xhh.3	-	11	1014	c.955G>A	c.(955-957)GGG>AGG	p.G319R	KIF13B_uc003xhj.2_Missense_Mutation_p.G216R|KIF13B_uc010lvf.1_Missense_Mutation_p.G255R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	319					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)														---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30416475	30416475	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30416475T>C	uc003xic.1	+	7	1263	c.598_splice	c.e7+2		RBPMS_uc003xid.1_Splice_Site|RBPMS_uc003xie.1_Splice_Site|RBPMS_uc003xif.1_Splice_Site	NM_006867	NP_006858			RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30436555	30436555	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30436555C>A	uc003xig.2	-							NM_002095	NP_002086			general transcription factor IIE, polypeptide 2,						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30510971	30510971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30510971A>G	uc003xig.2	-	2	398	c.145T>C	c.(145-147)TCA>CCA	p.S49P		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	49					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695219	30695219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30695219G>A	uc003xil.2	-	3	7432	c.7432C>T	c.(7432-7434)CAG>TAG	p.Q2478*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2478										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701846	30701846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30701846T>C	uc003xil.2	-	1	4688	c.4688A>G	c.(4687-4689)TAT>TGT	p.Y1563C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1563										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702154	30702154	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30702154T>C	uc003xil.2	-	1	4380	c.4380A>G	c.(4378-4380)ATA>ATG	p.I1460M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1460										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703082	30703082	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30703082T>C	uc003xil.2	-	1	3452	c.3452A>G	c.(3451-3453)TAT>TGT	p.Y1151C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1151	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704392	30704392	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704392C>A	uc003xil.2	-	1	2142	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	714										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704541	30704541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704541C>T	uc003xil.2	-	1	1993	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	665										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704620	30704620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704620T>C	uc003xil.2	-	1	1914	c.1914A>G	c.(1912-1914)TTA>TTG	p.L638L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	638										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
PURG	29942	broad.mit.edu	37	8	30889514	30889514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30889514G>A	uc003xin.2	-	1	804	c.785C>T	c.(784-786)CCA>CTA	p.P262L	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.P262L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	262	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)														---	---	---	---
WRN	7486	broad.mit.edu	37	8	30933738	30933738	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30933738T>C	uc003xio.3	+	8	1562	c.774T>C	c.(772-774)TCT>TCC	p.S258S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	258	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
WRN	7486	broad.mit.edu	37	8	31007893	31007893	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31007893T>G	uc003xio.3	+	31	4397	c.3609T>G	c.(3607-3609)GGT>GGG	p.G1203G	WRN_uc010lvk.2_Silent_p.G670G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1203	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32600216	32600216	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32600216A>G	uc003xiv.2	+						NRG1_uc003xip.2_Missense_Mutation_p.D400G|NRG1_uc010lvn.2_Missense_Mutation_p.D185G|NRG1_uc003xis.2_Missense_Mutation_p.D219G|NRG1_uc011lbf.1_Missense_Mutation_p.D219G|NRG1_uc010lvo.2_Missense_Mutation_p.D219G|NRG1_uc003xiu.2_Missense_Mutation_p.D219G|NRG1_uc003xiw.2_Missense_Mutation_p.D219G|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Missense_Mutation_p.D168G|NRG1_uc010lvq.2_Missense_Mutation_p.D151G|NRG1_uc003xix.2_Missense_Mutation_p.I132V|NRG1_uc003xiy.2_Missense_Mutation_p.D274G|NRG1_uc010lvt.2_Missense_Mutation_p.I231V|NRG1_uc011lbg.1_Intron|NRG1_uc011lbh.1_Missense_Mutation_p.D65G|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Intron	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621679	32621679	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32621679A>C	uc003xiv.2	+	12	2199	c.1682A>C	c.(1681-1683)GAA>GCA	p.E561A	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.E566A|NRG1_uc003xiw.2_Missense_Mutation_p.E558A|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.E303A|NRG1_uc010lvs.2_Missense_Mutation_p.E303A|NRG1_uc010lvp.2_Missense_Mutation_p.E515A|NRG1_uc010lvq.2_Missense_Mutation_p.E498A|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.E404A|NRG1_uc003xja.2_Missense_Mutation_p.E372A	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	561	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33246847	33246847	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33246847A>G	uc003xje.2	-	4	1202	c.846T>C	c.(844-846)AAT>AAC	p.N282N	FUT10_uc003xjc.2_Silent_p.N289N|FUT10_uc003xjd.2_Silent_p.N254N|FUT10_uc011lbi.1_Silent_p.N332N|FUT10_uc003xjf.2_Silent_p.N220N|FUT10_uc003xjg.2_Silent_p.N254N|FUT10_uc003xjh.2_Silent_p.N282N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	282	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)														---	---	---	---
MAK16	84549	broad.mit.edu	37	8	33346248	33346248	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33346248T>A	uc003xjj.2	+						C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898			MAK16 homolog							nucleolus				ovary(1)	1																		---	---	---	---
C8orf41	80185	broad.mit.edu	37	8	33369888	33369888	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33369888G>T	uc003xjl.3	-	1	769	c.244C>A	c.(244-246)CTG>ATG	p.L82M	C8orf41_uc003xjk.3_Missense_Mutation_p.L82M|C8orf41_uc010lvv.2_Missense_Mutation_p.L82M|C8orf41_uc003xjm.3_Missense_Mutation_p.L82M|C8orf41_uc003xjn.1_Missense_Mutation_p.L82M	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	82							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36644837	36644837	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36644837C>T	uc010lvw.2	+	2	296	c.209C>T	c.(208-210)TCA>TTA	p.S70L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	70	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36746729	36746729	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36746729T>G	uc003xjw.2	+						KCNU1_uc010lvw.2_Intron|uc003xjx.2_3'UTR					Homo sapiens cDNA FLJ50072 complete cds, moderately similar to Mus musculus potassium channel, subfamily U, member 1 (Kcnu1), mRNA.							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37556065	37556065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37556065G>A	uc003xjy.1	+	2	1843	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	549					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)															---	---	---	---
BRF2	55290	broad.mit.edu	37	8	37704490	37704490	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37704490T>G	uc003xkk.2	-	3	528	c.418A>C	c.(418-420)ACG>CCG	p.T140P		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	140	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37729405	37729405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37729405A>T	uc003xkm.1	-	4	2959	c.2915T>A	c.(2914-2916)ATA>AAA	p.I972K	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xko.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	972					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37734665	37734665	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37734665T>A	uc003xkm.1	-	2	820	c.776A>T	c.(775-777)GAA>GTA	p.E259V	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.E107V|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.E259V|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.E107V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	259					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37964605	37964605	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37964605C>T	uc003xkt.3	+	3	380	c.322C>T	c.(322-324)CGA>TGA	p.R108*	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Nonsense_Mutation_p.R14*|ASH2L_uc010lwa.2_Nonsense_Mutation_p.R14*	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	108					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)																---	---	---	---
STAR	6770	broad.mit.edu	37	8	38005720	38005720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38005720G>A	uc003xkv.1	-	3	568	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	STAR_uc010lwc.1_Nonsense_Mutation_p.Q64*	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	102	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)														---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38103772	38103772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38103772T>A	uc003xlb.2	+	9	1456	c.1079T>A	c.(1078-1080)ATC>AAC	p.I360N	DDHD2_uc003xlc.2_Missense_Mutation_p.I360N|DDHD2_uc011lbl.1_Missense_Mutation_p.I172N|DDHD2_uc003xld.2_5'Flank	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	360					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)															---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38189055	38189055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38189055G>A	uc003xli.2	-	5	1477	c.959C>T	c.(958-960)GCG>GTG	p.A320V	WHSC1L1_uc011lbm.1_Missense_Mutation_p.A320V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.A320V|WHSC1L1_uc003xlj.2_Missense_Mutation_p.A320V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	320	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205606	38205606	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38205606G>A	uc003xli.2	-	2	602	c.84C>T	c.(82-84)ATC>ATT	p.I28I	WHSC1L1_uc011lbm.1_Silent_p.I28I|WHSC1L1_uc010lwe.2_Silent_p.I28I|WHSC1L1_uc003xlj.2_Silent_p.I28I	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	28					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38264558	38264558	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38264558T>C	uc003xlm.1	+	9	1341	c.1170_splice	c.e9+2	p.K390_splice	LETM2_uc003xll.1_Splice_Site_p.K342_splice|LETM2_uc003xln.1_Splice_Site_p.K234_splice|LETM2_uc003xlo.1_Splice_Site_p.K234_splice	NM_144652	NP_653253			leucine zipper-EF-hand containing transmembrane							integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)															---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38279324	38279324	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38279324C>T	uc003xlp.2	-	8	2014	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	FGFR1_uc011lbo.1_Missense_Mutation_p.V356I|FGFR1_uc011lbp.1_Missense_Mutation_p.V269I|FGFR1_uc011lbq.1_Missense_Mutation_p.V267I|FGFR1_uc010lwk.2_Missense_Mutation_p.V350I|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V198I|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V389I|FGFR1_uc011lbv.1_Missense_Mutation_p.V356I|FGFR1_uc011lbw.1_Missense_Mutation_p.V269I|FGFR1_uc011lbx.1_Missense_Mutation_p.V269I	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	358	Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38282024	38282024	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38282024T>C	uc003xlp.2	-						FGFR1_uc011lbo.1_Intron|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Intron|FGFR1_uc011lbr.1_Intron|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Intron|FGFR1_uc011lbv.1_Intron|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Silent_p.V224V|FGFR1_uc003xlu.2_Silent_p.V222V	NM_023110	NP_075598			fibroblast growth factor receptor 1 isoform 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38911996	38911996	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38911996A>T	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495122	39495122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39495122A>T	uc003xni.2	+	9	727	c.727A>T	c.(727-729)ATT>TTT	p.I243F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.I219F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	243	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525578	39525578	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39525578A>T	uc003xni.2	+	14	1388	c.1388A>T	c.(1387-1389)TAC>TTC	p.Y463F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y439F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	463	Disintegrin.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39644522	39644522	+	Missense_Mutation	SNP	C	T	T	rs1059133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39644522C>T	uc003xnj.2	-	10	937	c.862G>A	c.(862-864)GAT>AAT	p.D288N	ADAM2_uc003xnk.2_Missense_Mutation_p.D269N|ADAM2_uc011lck.1_Missense_Mutation_p.D288N|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	288	Extracellular (Potential).|Peptidase M12B.			D -> H (in Ref. 1; AAC51110).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41122885	41122885	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41122885T>C	uc003xnt.2	-	3	1048	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	249	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41355108	41355108	+	Silent	SNP	A	G	G	rs149099838		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41355108A>G	uc003xnu.2	+	3	270	c.192A>G	c.(190-192)TCA>TCG	p.S64S	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.S64S	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	64						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41363518	41363518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41363518G>A	uc003xnu.2	+	4	431	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Missense_Mutation_p.R118Q	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	118						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
AGPAT6	137964	broad.mit.edu	37	8	41469463	41469463	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41469463A>G	uc003xnz.2	+	6	1592	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	218					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41577192	41577192	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41577192T>G	uc003xok.2	-	10	1178	c.1094A>C	c.(1093-1095)AAC>ACC	p.N365T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.N365T|ANK1_uc003xoj.2_Missense_Mutation_p.N365T|ANK1_uc003xol.2_Missense_Mutation_p.N365T|ANK1_uc003xom.2_Missense_Mutation_p.N398T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	365	ANK 10.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581066	41581066	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581066T>C	uc003xok.2	-	8	881	c.797A>G	c.(796-798)GAA>GGA	p.E266G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E266G|ANK1_uc003xoj.2_Missense_Mutation_p.E266G|ANK1_uc003xol.2_Missense_Mutation_p.E266G|ANK1_uc003xom.2_Missense_Mutation_p.E299G	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	266	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581127	41581127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581127C>T	uc003xok.2	-	8	820	c.736G>A	c.(736-738)GCC>ACC	p.A246T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A246T|ANK1_uc003xoj.2_Missense_Mutation_p.A246T|ANK1_uc003xol.2_Missense_Mutation_p.A246T|ANK1_uc003xom.2_Missense_Mutation_p.A279T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	246	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42019935	42019935	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42019935A>T	uc003xop.2	+	5	873	c.582A>T	c.(580-582)TCA>TCT	p.S194S	AP3M2_uc003xoo.2_Silent_p.S194S|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.S79S|AP3M2_uc003xor.1_Silent_p.S194S	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	194	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42023011	42023011	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42023011C>T	uc003xop.2	+	7	1027	c.736C>T	c.(736-738)CGC>TGC	p.R246C	AP3M2_uc003xoo.2_Missense_Mutation_p.R246C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R131C|AP3M2_uc003xor.1_Missense_Mutation_p.R246C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	246	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42025322	42025322	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42025322A>G	uc003xop.2	+	9	1441	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	AP3M2_uc003xoo.2_Missense_Mutation_p.I384V|AP3M2_uc010lxe.2_RNA	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	384	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
C8orf40	114926	broad.mit.edu	37	8	42401751	42401751	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42401751T>C	uc011lcv.1	+	2	183	c.134_splice	c.e2+2	p.R45_splice	C8orf40_uc003xph.2_Splice_Site_p.R45_splice|C8orf40_uc003xpg.2_Splice_Site_p.R45_splice|C8orf40_uc010lxo.2_Splice_Site_p.R45_splice	NM_001135676	NP_001129148			hypothetical protein LOC114926							cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42924694	42924694	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42924694C>A	uc003xps.2	+						FNTA_uc003xpt.2_Intron|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_Intron	NM_002027	NP_002018			farnesyltransferase, CAAX box, alpha isoform a						cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42932477	42932477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42932477A>G	uc003xps.2	+	6	800	c.752A>G	c.(751-753)AAT>AGT	p.N251S	FNTA_uc003xpt.2_Missense_Mutation_p.N160S|FNTA_uc003xpu.2_Missense_Mutation_p.N184S|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	251					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
SGK196	84197	broad.mit.edu	37	8	42977574	42977574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42977574T>A	uc003xpw.2	+	5	866	c.607T>A	c.(607-609)TGC>AGC	p.C203S		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	203	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0																		---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147761	43147761	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43147761C>A	uc003xpz.1	+	1	177	c.134C>A	c.(133-135)GCT>GAT	p.A45D	POTEA_uc003xqa.1_Missense_Mutation_p.A45D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	45										ovary(1)	1																		---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48309037	48309037	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48309037C>T	uc003xqd.2	+	6	636	c.627C>T	c.(625-627)CAC>CAT	p.H209H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.H209H|KIAA0146_uc010lxs.2_Translation_Start_Site|KIAA0146_uc011ldc.1_Silent_p.H139H|KIAA0146_uc011ldd.1_Silent_p.H149H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	209											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48613001	48613001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48613001G>A	uc003xqd.2	+	12	1731	c.1722G>A	c.(1720-1722)TGG>TGA	p.W574*	KIAA0146_uc011ldb.1_Nonsense_Mutation_p.W574*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.W49*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.W504*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.W514*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.W49*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.W263*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.W263*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.W79*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.W64*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.W68*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	574											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48647993	48647993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48647993G>A	uc003xqd.2	+	20	2738	c.2729G>A	c.(2728-2730)GGG>GAG	p.G910E	KIAA0146_uc011ldc.1_Missense_Mutation_p.G840E|KIAA0146_uc011ldd.1_Silent_p.R850R|KIAA0146_uc003xqe.2_Missense_Mutation_p.G385E|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Missense_Mutation_p.G415E|KIAA0146_uc011ldg.1_Missense_Mutation_p.G400E|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	910											0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48689516	48689516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48689516C>T	uc003xqi.2	-	86	12128	c.12071G>A	c.(12070-12072)GGA>GAA	p.G4024E	PRKDC_uc003xqj.2_Missense_Mutation_p.G3993E|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	4024					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48748958	48748958	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48748958A>G	uc003xqi.2	-	59	7949	c.7892T>C	c.(7891-7893)GTG>GCG	p.V2631A	PRKDC_uc003xqj.2_Missense_Mutation_p.V2631A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2631	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49643102	49643102	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49643102T>C	uc003xqo.2	-	3	476	c.316A>G	c.(316-318)AAA>GAA	p.K106E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.K54E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	106	EF-hand 2.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)																---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832964	49832964	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49832964A>G	uc003xqp.2	-	2	280	c.116T>C	c.(115-117)ATG>ACG	p.M39T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	39					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51415351	51415351	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51415351G>T	uc010lxy.1	+	10	748	c.377G>T	c.(376-378)CGG>CTG	p.R126L	SNTG1_uc003xqs.1_Missense_Mutation_p.R126L|SNTG1_uc010lxz.1_Missense_Mutation_p.R126L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321321	52321321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321321G>T	uc003xqu.3	-	17	2964	c.2863C>A	c.(2863-2865)CTG>ATG	p.L955M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	955					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321557	52321557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53077746	53077746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53077746G>A	uc003xqz.2	-	7	1400	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L	ST18_uc011ldq.1_Missense_Mutation_p.P62L|ST18_uc011ldr.1_Missense_Mutation_p.P380L|ST18_uc011lds.1_Missense_Mutation_p.P320L|ST18_uc003xra.2_Missense_Mutation_p.P415L|ST18_uc003xrb.2_Missense_Mutation_p.P415L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	415	C2HC-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084434	53084434	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084434C>A	uc003xqz.2	-	5	1143	c.987G>T	c.(985-987)AGG>AGT	p.R329S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R294S|ST18_uc011lds.1_Missense_Mutation_p.R234S|ST18_uc003xra.2_Missense_Mutation_p.R329S|ST18_uc003xrb.2_Missense_Mutation_p.R329S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	329						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084924	53084924	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084924T>A	uc003xqz.2	-	5	653	c.497A>T	c.(496-498)GAG>GTG	p.E166V	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E131V|ST18_uc011lds.1_Missense_Mutation_p.E71V|ST18_uc003xra.2_Missense_Mutation_p.E166V|ST18_uc003xrb.2_Missense_Mutation_p.E166V	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53569953	53569953	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53569953T>A	uc003xre.3	-	15	2994	c.2436A>T	c.(2434-2436)ATA>ATT	p.I812I	RB1CC1_uc003xrf.3_Silent_p.I812I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	812					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53853261	53853261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53853261C>T	uc011ldu.1	+	1	794	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	265	Helical; Name=6; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)																---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142295	54142295	+	Silent	SNP	G	A	A	rs112014812	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54142295G>A	uc003xrh.1	-	3	1080	c.705C>T	c.(703-705)TTC>TTT	p.F235F	OPRK1_uc003xri.1_Silent_p.F235F|OPRK1_uc010lyc.1_Silent_p.F146F	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	235	Helical; Name=5; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54163422	54163422	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54163422G>A	uc003xrh.1	-	1	551	c.176C>T	c.(175-177)CCG>CTG	p.P59L	OPRK1_uc003xri.1_Missense_Mutation_p.P59L|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	59	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708210	54708210	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708210A>G	uc003xrl.2	-	9	1019	c.867T>C	c.(865-867)TTT>TTC	p.F289F	ATP6V1H_uc003xrk.2_Silent_p.F249F|ATP6V1H_uc003xrm.2_Silent_p.F289F|ATP6V1H_uc003xrn.2_Silent_p.F271F|ATP6V1H_uc011ldv.1_Silent_p.F209F|ATP6V1H_uc010lyd.2_Silent_p.F225F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	289					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708265	54708265	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708265T>A	uc003xrl.2	-	9	964	c.812A>T	c.(811-813)GAT>GTT	p.D271V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D231V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D271V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D253V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D191V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D207V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	271					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708289	54708289	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708289T>C	uc003xrl.2	-	9	940	c.788A>G	c.(787-789)TAT>TGT	p.Y263C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.Y223C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Y263C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Y245C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Y183C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Y199C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	263					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
TCEA1	6917	broad.mit.edu	37	8	54891698	54891698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54891698T>C	uc003xru.2	-	8	1035	c.712A>G	c.(712-714)AAA>GAA	p.K238E	TCEA1_uc003xrv.2_Missense_Mutation_p.K217E|TCEA1_uc011ldw.1_Missense_Mutation_p.K54E|TCEA1_uc010lyg.2_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	238	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)					T	PLAG1	salivary adenoma								---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55533931G>A	uc003xsd.1	+	2	553	c.405G>A	c.(403-405)GCG>GCA	p.A135A	RP1_uc011ldy.1_Silent_p.A135A	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135V(1)		skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534073	55534073	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534073T>C	uc003xsd.1	+	2	695	c.547T>C	c.(547-549)TTT>CTT	p.F183L	RP1_uc011ldy.1_Missense_Mutation_p.F183L	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	183	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534123	55534123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534123C>T	uc003xsd.1	+	2	745	c.597C>T	c.(595-597)TAC>TAT	p.Y199Y	RP1_uc011ldy.1_Silent_p.Y199Y	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56015541	56015541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56015541C>T	uc003xsf.2	+	1	525	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	165						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)															---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56698458	56698458	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56698458T>A	uc003xsj.3	+						TGS1_uc010lyh.2_Intron	NM_024831	NP_079107			trimethylguanosine synthase homolog						cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863306	56863306	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56863306T>C	uc003xsk.3	+	6	732	c.450T>C	c.(448-450)GCT>GCC	p.A150A	LYN_uc003xsl.3_Silent_p.A129A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	150	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56910922	56910922	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56910922A>T	uc003xsk.3	+	11	1350	c.1068A>T	c.(1066-1068)GCA>GCT	p.A356A	LYN_uc003xsl.3_Silent_p.A335A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	356	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56922616	56922616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56922616G>A	uc003xsk.3	+	13	1768	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	LYN_uc003xsl.3_Missense_Mutation_p.V475I	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	496	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
MOS	4342	broad.mit.edu	37	8	57026295	57026295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57026295G>A	uc011leb.1	-	1	247	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	83	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)															---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079567	57079567	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079567T>G	uc003xsq.3	-	3	1189	c.738A>C	c.(736-738)GAA>GAC	p.E246D	PLAG1_uc003xsr.3_Missense_Mutation_p.E246D|PLAG1_uc010lyi.2_Missense_Mutation_p.E246D|PLAG1_uc010lyj.2_Missense_Mutation_p.E164D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	246	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079616	57079616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079616C>T	uc003xsq.3	-	3	1140	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	PLAG1_uc003xsr.3_Missense_Mutation_p.R230Q|PLAG1_uc010lyi.2_Missense_Mutation_p.R230Q|PLAG1_uc010lyj.2_Missense_Mutation_p.R148Q	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
CHCHD7	79145	broad.mit.edu	37	8	57129004	57129004	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57129004T>C	uc003xsx.2	+	3	165	c.67T>C	c.(67-69)TCC>CCC	p.S23P	CHCHD7_uc003xss.2_Silent_p.L49L|CHCHD7_uc003xst.2_Silent_p.L62L|CHCHD7_uc003xsu.2_Missense_Mutation_p.S35P|CHCHD7_uc003xsv.2_Missense_Mutation_p.S48P|CHCHD7_uc003xsw.2_Silent_p.L37L	NM_001011671	NP_001011671	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain	23	CHCH.								CHCHD7/PLAG1(12)	salivary_gland(12)	12		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)					T	PLAG1	salivary adenoma								---	---	---	---
SDR16C5	195814	broad.mit.edu	37	8	57218238	57218238	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57218238C>G	uc003xsy.1	-	6	1392	c.754G>C	c.(754-756)GAA>CAA	p.E252Q	SDR16C5_uc010lyk.1_Missense_Mutation_p.E252Q|SDR16C5_uc010lyl.1_Missense_Mutation_p.E208Q	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	252					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57890688	57890688	+	Silent	SNP	G	A	A	rs144109066	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57890688G>A	uc003xte.3	-	3	850	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	189						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59488584	59488584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59488584T>C	uc003xtn.2	+	5	516	c.366T>C	c.(364-366)GAT>GAC	p.D122D	SDCBP_uc003xto.2_Silent_p.D121D|SDCBP_uc003xtr.2_Silent_p.D121D|SDCBP_uc003xtp.2_Silent_p.D116D|SDCBP_uc003xtq.2_Silent_p.D122D|SDCBP_uc003xts.2_Silent_p.D128D|SDCBP_uc011led.1_Intron	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	122	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59493089	59493089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59493089C>T	uc003xtn.2	+	8	914	c.764C>T	c.(763-765)GCA>GTA	p.A255V	SDCBP_uc003xto.2_Missense_Mutation_p.A254V|SDCBP_uc003xtr.2_Missense_Mutation_p.A254V|SDCBP_uc003xtp.2_Missense_Mutation_p.A249V|SDCBP_uc003xtq.2_Missense_Mutation_p.A255V|SDCBP_uc003xts.2_Missense_Mutation_p.A261V|SDCBP_uc011led.1_Missense_Mutation_p.A196V	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	255	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59506822	59506822	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59506822G>A	uc003xtt.2	-	23	2134	c.1920C>T	c.(1918-1920)CGC>CGT	p.R640R	NSMAF_uc011lee.1_Silent_p.R671R	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	640	WD 1.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59508110	59508110	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59508110T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59515915	59515915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59515915C>T	uc003xtt.2	-	13	1113	c.899G>A	c.(898-900)AGC>AAC	p.S300N	NSMAF_uc011lee.1_Missense_Mutation_p.S331N|NSMAF_uc003xtu.2_Missense_Mutation_p.S300N	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	300	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59544052	59544052	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59544052T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron|NSMAF_uc003xtu.2_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61743114	61743114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61743114C>T	uc003xue.2	+	15	4233	c.3756C>T	c.(3754-3756)TGC>TGT	p.C1252C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61764653	61764653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61764653G>A	uc003xue.2	+	29	6218	c.5741G>A	c.(5740-5742)CGC>CAC	p.R1914H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1914					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
ASPH	444	broad.mit.edu	37	8	62430081	62430081	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62430081C>T	uc003xuj.2	-						ASPH_uc011leg.1_Intron	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
ASPH	444	broad.mit.edu	37	8	62577909	62577909	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62577909A>C	uc003xuj.2	-						ASPH_uc011leg.1_Intron|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Intron|ASPH_uc011lei.1_Intron|ASPH_uc011lej.1_Intron|ASPH_uc003xun.2_Intron|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Intron|ASPH_uc011lel.1_Missense_Mutation_p.S193R|ASPH_uc011lem.1_Missense_Mutation_p.S178R	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64099143	64099143	+	Missense_Mutation	SNP	A	T	T	rs13255728		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:64099143A>T	uc003xuy.2	+	5	890	c.574A>T	c.(574-576)ACT>TCT	p.T192S	YTHDF3_uc010lys.2_Missense_Mutation_p.T136S|YTHDF3_uc003xuz.2_Missense_Mutation_p.T136S|YTHDF3_uc003xva.2_Missense_Mutation_p.T136S|YTHDF3_uc011len.1_Missense_Mutation_p.T136S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	192											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494116	65494116	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65494116G>A	uc003xvi.2	+	1	1303	c.769G>A	c.(769-771)GAC>AAC	p.D257N	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	257	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MTFR1	9650	broad.mit.edu	37	8	66620183	66620183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66620183C>T	uc003xvm.2	+	7	1082	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MTFR1_uc011lep.1_Silent_p.S290S|MTFR1_uc003xvn.2_Silent_p.S257S|MTFR1_uc003xvo.1_Silent_p.S280S	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	290						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66651787	66651787	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66651787C>A	uc003xvq.2	-	6	557	c.545G>T	c.(544-546)GGA>GTA	p.G182V	PDE7A_uc003xvr.2_Missense_Mutation_p.G182V|PDE7A_uc003xvp.2_Missense_Mutation_p.G156V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	182						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
DNAJC5B	85479	broad.mit.edu	37	8	66963796	66963796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66963796T>C	uc003xvs.1	+	3	305	c.14T>C	c.(13-15)ATA>ACA	p.I5T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	5					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)															---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67364293	67364293	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67364293C>T	uc003xwb.3	+	9	874	c.840C>T	c.(838-840)GAC>GAT	p.D280D	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Silent_p.D232D|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Silent_p.D210D|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)															---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67577516	67577516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67577516C>T	uc003xwn.2	-	1	1937	c.1678G>A	c.(1678-1680)GGA>AGA	p.G560R	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	560					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)															---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076737	68076737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68076737C>A	uc003xxi.2	+	24	2943	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H	CSPP1_uc003xxj.2_Missense_Mutation_p.P936H|CSPP1_uc003xxk.2_Missense_Mutation_p.P591H|CSPP1_uc010lyw.2_Missense_Mutation_p.P31H	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	971						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68111167	68111167	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68111167C>T	uc003xxo.1	-	39					ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_3'UTR|ARFGEF1_uc003xxn.1_3'UTR|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68115309	68115309	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68115309G>A	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_Intron|ARFGEF1_uc003xxn.1_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68130014	68130014	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68130014T>C	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxn.1_Intron	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150610	68150610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68150610T>C	uc003xxo.1	-	22	3647	c.3257A>G	c.(3256-3258)CAG>CGG	p.Q1086R	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q540R|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q69R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1086					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208816	68208816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208816G>A	uc003xxo.1	-	5	879	c.489C>T	c.(487-489)CAC>CAT	p.H163H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	163					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208822	68208822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208822T>C	uc003xxo.1	-	5	873	c.483A>G	c.(481-483)TCA>TCG	p.S161S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	161					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68658339	68658339	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68658339C>T	uc003xxq.3	-	1	282	c.26G>A	c.(25-27)GGC>GAC	p.G9D	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.G9D	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	9					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)															---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68930155	68930155	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68930155G>A	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68939498	68939498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68939498C>A	uc003xxv.1	+	5	510	c.483C>A	c.(481-483)CCC>CCA	p.P161P	PREX2_uc003xxu.1_Silent_p.P161P|PREX2_uc011lez.1_Silent_p.P96P	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	161	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68956765	68956765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68956765C>T	uc003xxv.1	+	8	910	c.883C>T	c.(883-885)CTT>TTT	p.L295F	PREX2_uc003xxu.1_Missense_Mutation_p.L295F|PREX2_uc011lez.1_Missense_Mutation_p.L230F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	295	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68965388	68965388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68965388G>A	uc003xxv.1	+	9	1027	c.1000G>A	c.(1000-1002)GCA>ACA	p.A334T	PREX2_uc003xxu.1_Missense_Mutation_p.A334T|PREX2_uc011lez.1_Missense_Mutation_p.A269T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68993075	68993075	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68993075T>C	uc003xxv.1	+	17	1905	c.1878_splice	c.e17+2	p.E626_splice	PREX2_uc003xxu.1_Splice_Site_p.E626_splice|PREX2_uc011lez.1_Splice_Site_p.E561_splice	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69011996	69011996	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69011996C>A	uc003xxv.1	+	23	2660	c.2633C>A	c.(2632-2634)CCT>CAT	p.P878H	PREX2_uc003xxu.1_Missense_Mutation_p.P878H|PREX2_uc011lez.1_Missense_Mutation_p.P813H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	878					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69015051	69015051	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69015051A>G	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69039639	69039639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69039639C>T	uc003xxv.1	+	31	3778	c.3751C>T	c.(3751-3753)CTT>TTT	p.L1251F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1251					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69351824	69351824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69351824C>T	uc010lyz.2	+	2	209	c.160C>T	c.(160-162)CAA>TAA	p.Q54*	C8orf34_uc010lyx.1_Nonsense_Mutation_p.Q54*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.Q54*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.Q29*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	54					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70588860	70588860	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70588860A>C	uc003xyl.2	-	9	2780	c.2073T>G	c.(2071-2073)GTT>GTG	p.V691V	SLCO5A1_uc010lzb.2_Silent_p.V636V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	691	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70971024	70971024	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70971024A>G	uc003xym.2	-	6	1439	c.1237T>C	c.(1237-1239)TAT>CAT	p.Y413H		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	413	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70980555	70980555	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70980555G>A	uc003xym.2	-	4	1024	c.822C>T	c.(820-822)ATC>ATT	p.I274I		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71060570	71060570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71060570G>A	uc003xyn.1	-	12	2705	c.2543C>T	c.(2542-2544)GCT>GTT	p.A848V	NCOA2_uc011lfb.1_Missense_Mutation_p.A5V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	848					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71068691	71068691	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71068691C>A	uc003xyn.1	-	11	2071	c.1909G>T	c.(1909-1911)GGG>TGG	p.G637W		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	637					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72234492	72234492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72234492T>C	uc003xys.3	-	4	501	c.214A>G	c.(214-216)AGT>GGT	p.S72G	EYA1_uc003xyr.3_Missense_Mutation_p.S72G|EYA1_uc003xyt.3_Missense_Mutation_p.S39G|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.S72G|EYA1_uc011lfe.1_Missense_Mutation_p.S72G|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	72					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)															---	---	---	---
MSC	9242	broad.mit.edu	37	8	72755945	72755945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72755945C>T	uc003xyx.1	-	1	787	c.469G>A	c.(469-471)GCT>ACT	p.A157T	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	157	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)													OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72981364	72981364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72981364C>A	uc003xza.2	-	3	513	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	113	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72987597	72987597	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72987597C>A	uc003xza.2	-	1	223	c.48G>T	c.(46-48)GAG>GAT	p.E16D		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	16	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848595	73848595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848595G>T	uc003xzb.2	+	3	1593	c.1005G>T	c.(1003-1005)TTG>TTT	p.L335F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	335	Helical; Name=Segment S5; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848886	73848886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848886A>G	uc003xzb.2	+	3	1884	c.1296A>G	c.(1294-1296)AAA>AAG	p.K432K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	432	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848931	73848931	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848931A>G	uc003xzb.2	+	3	1929	c.1341A>G	c.(1339-1341)GGA>GGG	p.G447G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	447	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849687	73849687	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849687T>C	uc003xzb.2	+	3	2685	c.2097T>C	c.(2095-2097)AGT>AGC	p.S699S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	699	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76470782	76470782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76470782T>A	uc003yaq.2	+	8	892	c.622T>A	c.(622-624)TGT>AGT	p.C208S	HNF4G_uc003yar.2_Missense_Mutation_p.C245S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	208					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767582	77767582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767582G>A	uc003yav.2	+	10	8677	c.8290G>A	c.(8290-8292)GCA>ACA	p.A2764T	ZFHX4_uc003yau.1_Missense_Mutation_p.A2809T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2764T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2764						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
TPD52	7163	broad.mit.edu	37	8	80965534	80965534	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:80965534G>A	uc003ybr.1	-	3	709	c.387C>T	c.(385-387)GAC>GAT	p.D129D	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.D89D|TPD52_uc003ybt.1_Silent_p.D89D|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	129					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)															---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81431715	81431715	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81431715C>A	uc003ybx.3	+	6	3166	c.2568C>A	c.(2566-2568)CCC>CCA	p.P856P	ZBTB10_uc003ybv.3_Silent_p.P564P|ZBTB10_uc003ybw.3_Silent_p.P832P|ZBTB10_uc010lzt.2_Silent_p.P854P	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	856					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)															---	---	---	---
PAG1	55824	broad.mit.edu	37	8	81897148	81897148	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81897148C>A	uc003ybz.2	-	7	1450	c.739G>T	c.(739-741)GGA>TGA	p.G247*		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	247	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)															---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82196782	82196782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82196782A>G	uc003yca.1	+	4	436	c.388A>G	c.(388-390)ATC>GTC	p.I130V		NM_001444	NP_001435	Q01469	FABP5_HUMAN	fatty acid binding protein 5	130	Fatty acid binding (By similarity).				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity				0	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)															---	---	---	---
FABP9	646480	broad.mit.edu	37	8	82373677	82373677	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82373677A>G	uc011lfo.1	-							NM_001080526	NP_001073995			fatty acid binding protein 9, testis								lipid binding|transporter activity				0			Epithelial(68;0.186)															---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82593741	82593741	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82593741C>T	uc003ych.2	-	2	182	c.55G>A	c.(55-57)GCT>ACT	p.A19T	IMPA1_uc011lfq.1_Missense_Mutation_p.A78T|IMPA1_uc011lfr.1_Missense_Mutation_p.A19T	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	19					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)													---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86121514	86121514	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86121514G>A	uc003ycz.3	+	6	790	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	E2F5_uc003yda.3_Silent_p.Q251Q|E2F5_uc010mab.2_Silent_p.Q90Q|E2F5_uc003ydb.3_Silent_p.Q70Q	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	251					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1																		---	---	---	---
C8orf59	401466	broad.mit.edu	37	8	86127243	86127243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86127243T>G	uc010mac.1	-	4	378	c.138A>C	c.(136-138)AAA>AAC	p.K46N	C8orf59_uc003ydd.2_Missense_Mutation_p.K46N|C8orf59_uc010mad.1_Missense_Mutation_p.K46N|C8orf59_uc003yde.2_Missense_Mutation_p.K46N|uc003ydc.1_RNA|C8orf59_uc011lfu.1_Intron	NM_001099670	NP_001093140	Q8N0T1	CH059_HUMAN	hypothetical protein LOC401466	46											0																		---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87230005	87230005	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87230005C>A	uc003ydq.1	-	3	971	c.873G>T	c.(871-873)ATG>ATT	p.M291I	SLC7A13_uc003ydr.1_Missense_Mutation_p.M282I	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	291	Helical; Name=8; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87437558	87437558	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87437558A>T	uc003ydt.2	+						WWP1_uc010mai.2_Intron	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87443720	87443720	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87443720G>T	uc003ydt.2	+	13	1752	c.1472_splice	c.e13+1	p.G491_splice	WWP1_uc010mai.2_Splice_Site_p.G267_splice	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89081664	89081664	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89081664G>A	uc003yeb.3	-						MMP16_uc003yec.2_Missense_Mutation_p.P437S	NM_005941	NP_005932			matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89086947	89086947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89086947T>C	uc003yeb.3	-	7	1390	c.1108A>G	c.(1108-1110)AAC>GAC	p.N370D	MMP16_uc003yec.2_Missense_Mutation_p.N370D	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	370	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128833	89128833	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128833G>A	uc003yeb.3	-	6	1268	c.986C>T	c.(985-987)CCA>CTA	p.P329L	MMP16_uc003yec.2_Missense_Mutation_p.P329L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	329	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90802434	90802434	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90802434A>C	uc003yee.2	+	11	1727	c.1413A>C	c.(1411-1413)AAA>AAC	p.K471N	RIPK2_uc003yef.2_Missense_Mutation_p.K334N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	471	CARD.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)															---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92374603	92374603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92374603T>C	uc003yex.2	+	13	1615	c.1337T>C	c.(1336-1338)GTA>GCA	p.V446A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V446A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V446A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	446	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94745668	94745668	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94745668C>T	uc003yfz.2	-	3	3164	c.2971G>A	c.(2971-2973)GTT>ATT	p.V991I		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	991	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94747482	94747482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94747482A>G	uc003yfz.2	-	3	1350	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	386							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95782721	95782721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95782721G>A	uc003ygx.2	+	13	1500	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	459						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97172915	97172915	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97172915A>T	uc003yhp.2	-	1	106	c.6T>A	c.(4-6)GAT>GAA	p.D2E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	2					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)																	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98703401	98703401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98703401A>G	uc003yhz.2	+	6	1361	c.1033A>G	c.(1033-1035)ATA>GTA	p.I345V	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	345	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)															---	---	---	---
MATN2	4147	broad.mit.edu	37	8	99039747	99039747	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99039747A>C	uc003yic.2	+	14	2277	c.2046A>C	c.(2044-2046)ATA>ATC	p.I682I	MATN2_uc010mbh.1_Silent_p.I641I|MATN2_uc003yid.2_Silent_p.I682I|MATN2_uc003yie.1_Silent_p.I682I|MATN2_uc010mbi.1_Silent_p.I515I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	682	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168275	99168275	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168275T>C	uc003yij.3	+						POP1_uc011lgv.1_Intron|POP1_uc003yik.2_Intron	NM_001145860	NP_001139332			processing of precursor 1						tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168483	99168483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168483C>T	uc003yij.3	+	15	2363	c.2263C>T	c.(2263-2265)CCA>TCA	p.P755S	POP1_uc011lgv.1_Missense_Mutation_p.P755S|POP1_uc003yik.2_Missense_Mutation_p.P755S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	755					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99248423	99248423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99248423A>G	uc003yil.1	-	4	652	c.396T>C	c.(394-396)GTT>GTC	p.V132V	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V132V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	132						integral to membrane					0																		---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440332	99440332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99440332G>A	uc003yin.2	+	2	475	c.125G>A	c.(124-126)CGC>CAC	p.R42H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	42	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)															---	---	---	---
STK3	6788	broad.mit.edu	37	8	99468135	99468135	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99468135T>C	uc003yip.2	-	11	1552	c.1411A>G	c.(1411-1413)ACT>GCT	p.T471A	STK3_uc003yio.2_Missense_Mutation_p.T499A	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	471	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
STK3	6788	broad.mit.edu	37	8	99735183	99735183	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99735183A>T	uc003yip.2	-						STK3_uc003yio.2_Intron|STK3_uc010mbm.1_Intron	NM_006281	NP_006272			serine/threonine kinase 3						apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100050747	100050747	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100050747A>G	uc003yiv.2	+	3	355	c.244A>G	c.(244-246)ACC>GCC	p.T82A	VPS13B_uc003yiw.2_Missense_Mutation_p.T82A|VPS13B_uc003yit.2_Missense_Mutation_p.T82A|VPS13B_uc003yiu.1_Missense_Mutation_p.T82A|VPS13B_uc003yis.2_Missense_Mutation_p.T82A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	82					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100729416	100729416	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100729416T>A	uc003yiv.2	+	37	6658	c.6547T>A	c.(6547-6549)TCA>ACA	p.S2183T	VPS13B_uc003yiw.2_Missense_Mutation_p.S2158T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2183					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100977666	100977666	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100977666T>C	uc003yjb.1	-						RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Intron	NM_015668	NP_056483			regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101020754	101020754	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101020754A>G	uc003yjb.1	-	15	2405	c.2210T>C	c.(2209-2211)ATT>ACT	p.I737T	RGS22_uc003yja.1_Missense_Mutation_p.I556T|RGS22_uc003yjc.1_Missense_Mutation_p.I725T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	737					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101153423	101153423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101153423A>G	uc003yjd.2	-	2	1772	c.1059T>C	c.(1057-1059)GGT>GGC	p.G353G	FBXO43_uc003yje.2_Silent_p.G319G|FBXO43_uc010mbp.1_Silent_p.G353G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	353					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101203638	101203638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101203638A>G	uc003yjh.1	+	9	939	c.853A>G	c.(853-855)ACA>GCA	p.T285A	SPAG1_uc003yjg.1_Missense_Mutation_p.T285A|SPAG1_uc003yji.1_Missense_Mutation_p.T285A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	285	TPR 3.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101237493	101237493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101237493C>A	uc003yjh.1	+	14	1867	c.1781C>A	c.(1780-1782)GCT>GAT	p.A594D	SPAG1_uc003yji.1_Missense_Mutation_p.A594D	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	594					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102589676	102589676	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102589676A>T	uc010mbu.2	+	7	1262	c.932A>T	c.(931-933)GAT>GTT	p.D311V		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	311						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)															---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103236354	103236354	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103236354T>C	uc003ykn.2	-	5	714	c.470A>G	c.(469-471)AAT>AGT	p.N157S	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N105S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	157					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)										Direct_reversal_of_damage|Modulation_of_nucleotide_pools					---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564230	103564230	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103564230G>T	uc003ykt.2	+	1	383	c.275G>T	c.(274-276)AGG>ATG	p.R92M		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	92					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---
ATP6V1C1	528	broad.mit.edu	37	8	104078589	104078589	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104078589C>T	uc003ykz.3	+	12	1212	c.967C>T	c.(967-969)CCC>TCC	p.P323S	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.P248S|ATP6V1C1_uc003yla.2_Missense_Mutation_p.P323S|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.P248S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	323					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337731	104337731	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337731A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337736	104337736	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337736A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452374	104452374	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452374C>G	uc003yln.2	+	9	1694	c.1417C>G	c.(1417-1419)CAT>GAT	p.H473D	DCAF13_uc003ylm.1_Missense_Mutation_p.H206D|DCAF13_uc003ylo.2_Missense_Mutation_p.H184D	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	321					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452496	104452496	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452496T>C	uc003yln.2	+	9	1816	c.1539T>C	c.(1537-1539)GGT>GGC	p.G513G	DCAF13_uc003ylm.1_Silent_p.G246G|DCAF13_uc003ylo.2_Silent_p.G224G	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	361	WD 7.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898191	104898191	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104898191G>A	uc003yls.2	+	2	939	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R455Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R263Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104955055	104955055	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104955055C>A	uc003yls.2	+	12	2177	c.1936C>A	c.(1936-1938)CTT>ATT	p.L646I	RIMS2_uc003ylp.2_Missense_Mutation_p.L868I|RIMS2_uc003ylw.2_Missense_Mutation_p.L660I|RIMS2_uc003ylq.2_Missense_Mutation_p.L660I|RIMS2_uc003ylr.2_Missense_Mutation_p.L707I|RIMS2_uc003ylt.2_Missense_Mutation_p.L253I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	930					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105360772	105360772	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105360772G>A	uc003ylx.1	+	2						NM_030788	NP_110415			dendritic cell-specific transmembrane protein						osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105361020	105361020	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105361020T>C	uc003ylx.1	+	2	289	c.240T>C	c.(238-240)TGT>TGC	p.C80C		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	80					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521172	105521172	+	Silent	SNP	A	G	G	rs146591291		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521172A>G	uc003yma.2	-	3	362	c.267T>C	c.(265-267)ACT>ACC	p.T89T	LRP12_uc003ymb.2_Silent_p.T70T|LRP12_uc003ymc.3_Silent_p.T70T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	89	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521252	105521252	+	Missense_Mutation	SNP	T	G	G	rs113326704		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521252T>G	uc003yma.2	-	3	282	c.187A>C	c.(187-189)AGC>CGC	p.S63R	LRP12_uc003ymb.2_Missense_Mutation_p.S44R|LRP12_uc003ymc.3_Missense_Mutation_p.S44R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	63	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796640	109796640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796640G>A	uc003ymy.1	-	2	793	c.688C>T	c.(688-690)CGC>TGC	p.R230C	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796927	109796927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796927T>C	uc003ymy.1	-	2	506	c.401A>G	c.(400-402)AAT>AGT	p.N134S	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	134					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110351554	110351554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110351554A>G	uc003ynd.2	+	3	151	c.89A>G	c.(88-90)AAA>AGA	p.K30R	ENY2_uc003ync.2_Missense_Mutation_p.K25R	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	30					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110471910	110471910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110471910A>G	uc003yne.2	+	47	7195	c.7091A>G	c.(7090-7092)TAC>TGC	p.Y2364C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2364	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110535613	110535613	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110535613C>T	uc003yne.2	+	76	12586	c.12482C>T	c.(12481-12483)ACA>ATA	p.T4161I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4161	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110575641	110575641	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110575641A>T	uc003ynf.2	+						EBAG9_uc003yng.2_Intron	NM_198120	NP_936056			estrogen receptor binding site associated						apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)															---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110587443	110587443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110587443C>T	uc003ynj.3	-	7	1847	c.1684G>A	c.(1684-1686)GCC>ACC	p.A562T	SYBU_uc003yni.3_Missense_Mutation_p.A559T|SYBU_uc003ynk.3_Missense_Mutation_p.A443T|SYBU_uc010mco.2_Missense_Mutation_p.A561T|SYBU_uc003ynl.3_Missense_Mutation_p.A561T|SYBU_uc010mcp.2_Missense_Mutation_p.A562T|SYBU_uc010mcq.2_Missense_Mutation_p.A562T|SYBU_uc003yno.3_Missense_Mutation_p.A443T|SYBU_uc010mcr.2_Missense_Mutation_p.A562T|SYBU_uc003ynm.3_Missense_Mutation_p.A561T|SYBU_uc003ynn.3_Missense_Mutation_p.A561T|SYBU_uc010mcs.2_Missense_Mutation_p.A443T|SYBU_uc010mct.2_Missense_Mutation_p.A562T|SYBU_uc010mcu.2_Missense_Mutation_p.A561T|SYBU_uc003ynp.3_Missense_Mutation_p.A494T|SYBU_uc010mcv.2_Missense_Mutation_p.A562T|SYBU_uc003ynh.3_Missense_Mutation_p.A356T|SYBU_uc011lhw.1_Missense_Mutation_p.A432T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	562						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588041	110588041	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588041T>C	uc003ynj.3	-	7	1249	c.1086A>G	c.(1084-1086)ATA>ATG	p.I362M	SYBU_uc003yni.3_Missense_Mutation_p.I359M|SYBU_uc003ynk.3_Missense_Mutation_p.I243M|SYBU_uc010mco.2_Missense_Mutation_p.I361M|SYBU_uc003ynl.3_Missense_Mutation_p.I361M|SYBU_uc010mcp.2_Missense_Mutation_p.I362M|SYBU_uc010mcq.2_Missense_Mutation_p.I362M|SYBU_uc003yno.3_Missense_Mutation_p.I243M|SYBU_uc010mcr.2_Missense_Mutation_p.I362M|SYBU_uc003ynm.3_Missense_Mutation_p.I361M|SYBU_uc003ynn.3_Missense_Mutation_p.I361M|SYBU_uc010mcs.2_Missense_Mutation_p.I243M|SYBU_uc010mct.2_Missense_Mutation_p.I362M|SYBU_uc010mcu.2_Missense_Mutation_p.I361M|SYBU_uc003ynp.3_Missense_Mutation_p.I294M|SYBU_uc010mcv.2_Missense_Mutation_p.I362M|SYBU_uc003ynh.3_Missense_Mutation_p.I156M|SYBU_uc011lhw.1_Missense_Mutation_p.I232M	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	362	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588192	110588192	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588192T>A	uc003ynj.3	-	7	1098	c.935A>T	c.(934-936)GAC>GTC	p.D312V	SYBU_uc003yni.3_Missense_Mutation_p.D309V|SYBU_uc003ynk.3_Missense_Mutation_p.D193V|SYBU_uc010mco.2_Missense_Mutation_p.D311V|SYBU_uc003ynl.3_Missense_Mutation_p.D311V|SYBU_uc010mcp.2_Missense_Mutation_p.D312V|SYBU_uc010mcq.2_Missense_Mutation_p.D312V|SYBU_uc003yno.3_Missense_Mutation_p.D193V|SYBU_uc010mcr.2_Missense_Mutation_p.D312V|SYBU_uc003ynm.3_Missense_Mutation_p.D311V|SYBU_uc003ynn.3_Missense_Mutation_p.D311V|SYBU_uc010mcs.2_Missense_Mutation_p.D193V|SYBU_uc010mct.2_Missense_Mutation_p.D312V|SYBU_uc010mcu.2_Missense_Mutation_p.D311V|SYBU_uc003ynp.3_Missense_Mutation_p.D244V|SYBU_uc010mcv.2_Missense_Mutation_p.D312V|SYBU_uc003ynh.3_Missense_Mutation_p.D106V|SYBU_uc011lhw.1_Missense_Mutation_p.D182V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	312	Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110984530	110984530	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110984530C>T	uc003ynr.3	-	2	1290	c.948G>A	c.(946-948)CTG>CTA	p.L316L	KCNV1_uc010mcw.2_Silent_p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241000	113241000	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113241000T>G	uc003ynu.2	-	70	11108	c.10949A>C	c.(10948-10950)TAT>TCT	p.Y3650S	CSMD3_uc003yns.2_Missense_Mutation_p.Y2852S|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3610S|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3481S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3650	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256732	113256732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256732C>T	uc003ynu.2	-	65	10452	c.10293G>A	c.(10291-10293)GGG>GGA	p.G3431G	CSMD3_uc003yns.2_Silent_p.G2633G|CSMD3_uc003ynt.2_Silent_p.G3391G|CSMD3_uc011lhx.1_Silent_p.G3262G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3431	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308208	113308208	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113308208A>T	uc003ynu.2	-	54	8627	c.8468T>A	c.(8467-8469)ATT>AAT	p.I2823N	CSMD3_uc003yns.2_Missense_Mutation_p.I2025N|CSMD3_uc003ynt.2_Missense_Mutation_p.I2783N|CSMD3_uc011lhx.1_Missense_Mutation_p.I2654N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2823	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353786	113353786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113353786A>G	uc003ynu.2	-	42	6731	c.6572T>C	c.(6571-6573)TTC>TCC	p.F2191S	CSMD3_uc003yns.2_Missense_Mutation_p.F1393S|CSMD3_uc003ynt.2_Missense_Mutation_p.F2151S|CSMD3_uc011lhx.1_Missense_Mutation_p.F2087S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2191	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426319	116426319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116426319T>C	uc003ynz.2	-	6	4237	c.3778A>G	c.(3778-3780)ACA>GCA	p.T1260A	TRPS1_uc011lhy.1_Missense_Mutation_p.T1264A|TRPS1_uc003yny.2_Missense_Mutation_p.T1273A|TRPS1_uc010mcy.2_Missense_Mutation_p.T1260A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1260	C2H2-type 7.|Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599390	116599390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116599390C>T	uc003ynz.2	-	4	2958	c.2499G>A	c.(2497-2499)GTG>GTA	p.V833V	TRPS1_uc011lhy.1_Silent_p.V837V|TRPS1_uc003yny.2_Silent_p.V846V|TRPS1_uc010mcy.2_Silent_p.V833V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	833					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631923	116631923	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116631923G>A	uc003ynz.2	-	2	822	c.363C>T	c.(361-363)GTC>GTT	p.V121V	TRPS1_uc011lhy.1_Silent_p.V125V|TRPS1_uc003yny.2_Silent_p.V134V|TRPS1_uc010mcy.2_Silent_p.V121V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	121					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117658772	117658772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117658772T>A	uc003yoa.2	-	7	925	c.899A>T	c.(898-900)GAC>GTC	p.D300V	EIF3H_uc003yob.2_Missense_Mutation_p.D314V	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	300					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)																	---	---	---	---
C8orf85	441376	broad.mit.edu	37	8	117950578	117950578	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117950578C>T	uc003yof.2	+	1	115	c.96C>T	c.(94-96)CCC>CCT	p.P32P		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	32											0																		---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118812147	118812147	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118812147G>T	uc003yok.1	-							NM_000127	NP_000118			exostosin 1						glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)					Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119209944	119209944	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119209944C>T	uc010mda.1	-	5					SAMD12_uc010mdb.1_RNA	NM_001101676	NP_001095146			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119634031	119634031	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119634031A>C	uc003yom.2	-						SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431371	120431371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431371C>T	uc003yoq.2	+	4	784	c.563C>T	c.(562-564)GCT>GTT	p.A188V		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	188					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431495	120431495	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431495C>T	uc003yoq.2	+	4	908	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	229	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120435193	120435193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120435193C>T	uc003yoq.2	+	5	1116	c.895C>T	c.(895-897)CGC>TGC	p.R299C		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	299	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120809250	120809250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120809250A>G	uc003you.2	-	8	1341	c.1071T>C	c.(1069-1071)TGT>TGC	p.C357C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	357					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120847196	120847196	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120847196T>A	uc003yov.2	-	9	1254	c.1119A>T	c.(1117-1119)AAA>AAT	p.K373N	TAF2_uc003you.2_5'Flank	NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	373					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120862613	120862613	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120862613A>T	uc003yov.2	-							NM_024094	NP_076999			defective in sister chromatid cohesion 1						DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121528287	121528287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121528287T>C	uc003ypc.1	+	18	2147	c.2102T>C	c.(2101-2103)GTG>GCG	p.V701A		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	701	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121587442	121587442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121587442C>T	uc010mdg.2	-	4	1246	c.1020G>A	c.(1018-1020)CAG>CAA	p.Q340Q	SNTB1_uc003ype.2_Silent_p.Q340Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641366	122641366	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122641366T>C	uc003yph.2	-	2	753	c.215A>G	c.(214-216)AAA>AGA	p.K72R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	72	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
WDR67	93594	broad.mit.edu	37	8	124153051	124153051	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124153051A>G	uc003ypp.1	+	18	2640	c.2550A>G	c.(2548-2550)GCA>GCG	p.A850A	WDR67_uc011lig.1_Silent_p.A819A|WDR67_uc011lih.1_Silent_p.A740A|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.A484A|WDR67_uc003ypt.1_Silent_p.A307A|WDR67_uc003ypu.1_Silent_p.A307A	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	850	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664667	124664667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124664667G>A	uc003yqs.1	-	1	524	c.500C>T	c.(499-501)GCC>GTC	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	167	BACK.										0																		---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124787521	124787521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124787521T>C	uc003yqv.2	+	3	353	c.292T>C	c.(292-294)TAT>CAT	p.Y98H	FAM91A1_uc011lik.1_Missense_Mutation_p.Y98H|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	98										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124799566	124799566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124799566T>C	uc003yqv.2	+	13	1205	c.1144T>C	c.(1144-1146)TTT>CTT	p.F382L	FAM91A1_uc011lik.1_Missense_Mutation_p.F382L|FAM91A1_uc011lil.1_Missense_Mutation_p.F140L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	382										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992848	124992848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124992848G>A	uc003yqw.2	+	11	1413	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	403	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)													OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125094706	125094706	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125094706T>C	uc003yqw.2	+						uc003yqy.1_Intron	NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
RNF139	11236	broad.mit.edu	37	8	125498225	125498225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125498225C>T	uc003yrc.2	+	2	678	c.335C>T	c.(334-336)TCA>TTA	p.S112L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	112					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)											Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125565432	125565432	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125565432A>T	uc003yrk.2	-	14	2603	c.2069T>A	c.(2068-2070)ATT>AAT	p.I690N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.I339N|MTSS1_uc011lin.1_Missense_Mutation_p.I464N|MTSS1_uc011lio.1_Missense_Mutation_p.I580N|MTSS1_uc003yri.2_Missense_Mutation_p.I408N|MTSS1_uc003yrj.2_Missense_Mutation_p.I665N|MTSS1_uc003yrl.2_Missense_Mutation_p.I694N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	690	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126021568	126021568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126021568T>A	uc011liq.1	+	6	2017	c.1091T>A	c.(1090-1092)ATT>AAT	p.I364N		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	364					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)													---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126088714	126088714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126088714C>T	uc003yrt.2	-	7	1069	c.740G>A	c.(739-741)CGC>CAC	p.R247H	KIAA0196_uc011lir.1_Missense_Mutation_p.R99H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	247					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)															---	---	---	---
FAM84B	157638	broad.mit.edu	37	8	127569528	127569528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:127569528T>C	uc003yrz.1	-	2	391	c.107A>G	c.(106-108)TAC>TGC	p.Y36C		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	36						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)															---	---	---	---
GSDMC	56169	broad.mit.edu	37	8	130789814	130789814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130789814C>T	uc003ysr.2	-	2	902	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	7						mitochondrion				ovary(2)|skin(1)	3																		---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130866573	130866573	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130866573A>G	uc003yss.2	-	10	1004	c.455T>C	c.(454-456)ATA>ACA	p.I152T	FAM49B_uc003yst.2_Missense_Mutation_p.I152T|FAM49B_uc003ysu.2_Missense_Mutation_p.I152T|FAM49B_uc003ysv.2_Missense_Mutation_p.I6T|FAM49B_uc003ysw.2_Missense_Mutation_p.I152T|FAM49B_uc003ysx.2_Missense_Mutation_p.I152T|FAM49B_uc003ysy.1_Missense_Mutation_p.I152T	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	152											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131172154	131172154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131172154T>C	uc003yta.1	-	11	994	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ASAP1_uc003ysz.1_Silent_p.E133E|ASAP1_uc011liw.1_Silent_p.E315E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	322					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4																		---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131896899	131896899	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131896899T>A	uc003ytd.3	-	8	2276	c.2020A>T	c.(2020-2022)ACC>TCC	p.T674S	ADCY8_uc010mds.2_Missense_Mutation_p.T674S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	674	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131916273	131916273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131916273G>A	uc003ytd.3	-	7	1912	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	ADCY8_uc010mds.2_Silent_p.S552S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	552	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036882	133036882	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133036882T>C	uc003ytg.2	-	13	1280	c.1280A>G	c.(1279-1281)GAC>GGC	p.D427G	OC90_uc011lix.1_Missense_Mutation_p.D427G	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	443					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
OC90	729330	broad.mit.edu	37	8	133041316	133041316	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133041316T>C	uc003ytg.2	-						OC90_uc011lix.1_Intron	NM_001080399	NP_001073868			otoconin 90						lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133196541	133196541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133196541T>C	uc003ytj.2	-	3	776	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	KCNQ3_uc010mdt.2_Missense_Mutation_p.Y184C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	184					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133492463	133492463	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133492463C>T	uc003ytj.2	-	1	542	c.317G>A	c.(316-318)CGC>CAC	p.R106H	KCNQ3_uc010mdt.2_Missense_Mutation_p.R106H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	106					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133645002	133645002	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133645002C>T	uc003ytk.2	-	5	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	213						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133816054	133816054	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133816054T>C	uc003ytt.2	+						PHF20L1_uc003ytr.2_Intron|PHF20L1_uc010mdv.2_Intron|PHF20L1_uc003yts.2_Intron|PHF20L1_uc011lja.1_Intron|PHF20L1_uc003ytu.1_Intron|PHF20L1_uc003ytv.2_Silent_p.F5F	NM_016018	NP_057102			PHD finger protein 20-like 1 isoform 1								nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133837511	133837511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133837511A>G	uc003ytt.2	+	14	1964	c.1639A>G	c.(1639-1641)AAG>GAG	p.K547E	PHF20L1_uc003yts.2_3'UTR|PHF20L1_uc011lja.1_Missense_Mutation_p.K521E|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	547	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
TG	7038	broad.mit.edu	37	8	133895214	133895214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133895214A>G	uc003ytw.2	+	8	1086	c.1045A>G	c.(1045-1047)ACC>GCC	p.T349A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	349	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133975325	133975325	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133975325G>A	uc003ytw.2	+						TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_5'Flank|TG_uc010mdx.1_Intron	NM_003235	NP_003226			thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133984908	133984908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133984908G>T	uc003ytw.2	+	34	6162	c.6121G>T	c.(6121-6123)GGA>TGA	p.G2041*	TG_uc010mdw.2_Nonsense_Mutation_p.G800*|TG_uc011ljb.1_Nonsense_Mutation_p.G410*|TG_uc011ljc.1_Nonsense_Mutation_p.G195*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2041	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
SLA	6503	broad.mit.edu	37	8	134062229	134062229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134062229C>T	uc003ytz.2	-	5	998	c.166G>A	c.(166-168)GGG>AGG	p.G56R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G73R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G73R|SLA_uc010mdy.1_Missense_Mutation_p.G56R|SLA_uc010mdz.1_Missense_Mutation_p.G56R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.G96R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	56	SH3.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)															---	---	---	---
TG	7038	broad.mit.edu	37	8	134108554	134108554	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134108554G>T	uc003ytw.2	+	43	7550	c.7509G>T	c.(7507-7509)GAG>GAT	p.E2503D	TG_uc010mdw.2_Missense_Mutation_p.E1262D|TG_uc011ljb.1_Missense_Mutation_p.E872D|TG_uc011ljc.1_Missense_Mutation_p.E636D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2503					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	134145772	134145772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134145772C>T	uc003ytw.2	+	47	8097	c.8056C>T	c.(8056-8058)CCT>TCT	p.P2686S	TG_uc010mdw.2_Missense_Mutation_p.P1445S|TG_uc011ljb.1_Missense_Mutation_p.P1055S|TG_uc011ljc.1_Missense_Mutation_p.P819S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2686					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134276877	134276877	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134276877A>C	uc003yuh.2	-	4	704	c.118T>G	c.(118-120)TTA>GTA	p.L40V	NDRG1_uc003yug.2_Missense_Mutation_p.L40V|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	40					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180136	139180136	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139180136A>C	uc003yuy.2	-	12	1429	c.1258_splice	c.e12+1	p.G420_splice	FAM135B_uc003yux.2_Splice_Site_p.G321_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996			hypothetical protein LOC51059											ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139278000	139278000	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139278000T>C	uc003yuy.2	-	4	414	c.243A>G	c.(241-243)GTA>GTG	p.V81V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	81										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139629147	139629147	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139629147G>A	uc003yvd.2	-						COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848			collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)												HNSCC(7;0.00092)			---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140715061	140715061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:140715061A>G	uc003yvf.1	-	1	239	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	KCNK9_uc003yvg.1_Missense_Mutation_p.Y59H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	59	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)															---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141297761	141297761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141297761A>G	uc003yvj.2	-	13	2061	c.1927T>C	c.(1927-1929)TAC>CAC	p.Y643H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y741H|TRAPPC9_uc010mel.1_Missense_Mutation_p.Y64H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y634H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	643					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141301164	141301164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141301164A>G	uc003yvj.2	-	12	1916	c.1782T>C	c.(1780-1782)GTT>GTC	p.V594V	TRAPPC9_uc003yvh.2_Silent_p.V692V|TRAPPC9_uc010mel.1_Silent_p.V15V|TRAPPC9_uc003yvi.1_Silent_p.V585V	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	594					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141449272	141449272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141449272G>A	uc003yvj.2	-	3	743	c.609C>T	c.(607-609)GGC>GGT	p.G203G	TRAPPC9_uc003yvh.2_Silent_p.G301G|TRAPPC9_uc003yvi.1_Silent_p.G203G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	203					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141542676	141542676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141542676G>A	uc003yvn.2	-	18	2350	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D	EIF2C2_uc010men.2_Silent_p.D693D|EIF2C2_uc010meo.2_Silent_p.D736D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	770	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141551423	141551423	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141551423T>C	uc003yvn.2	-	15	1914	c.1874A>G	c.(1873-1875)TAC>TGC	p.Y625C	EIF2C2_uc010men.2_Missense_Mutation_p.Y548C|EIF2C2_uc010meo.2_Missense_Mutation_p.Y625C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	625	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141559224	141559224	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141559224G>A	uc003yvn.2	-	12	1617	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M	EIF2C2_uc010men.2_Missense_Mutation_p.T449M|EIF2C2_uc010meo.2_Missense_Mutation_p.T526M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	526	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141745491	141745491	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141745491T>C	uc003yvu.2	-	22	2119	c.1889A>G	c.(1888-1890)GAT>GGT	p.D630G	PTK2_uc003yvo.2_Missense_Mutation_p.D258G|PTK2_uc011ljq.1_Missense_Mutation_p.D325G|PTK2_uc003yvp.2_Missense_Mutation_p.D298G|PTK2_uc003yvq.2_Missense_Mutation_p.D156G|PTK2_uc003yvr.2_Missense_Mutation_p.D570G|PTK2_uc003yvs.2_Missense_Mutation_p.D630G|PTK2_uc003yvt.2_Missense_Mutation_p.D652G|PTK2_uc003yvv.2_Missense_Mutation_p.D530G|PTK2_uc011ljr.1_Missense_Mutation_p.D630G|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	630	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141754863	141754863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141754863T>C	uc003yvu.2	-	19	1752	c.1522A>G	c.(1522-1524)AGG>GGG	p.R508G	PTK2_uc003yvo.2_Missense_Mutation_p.R136G|PTK2_uc011ljq.1_Missense_Mutation_p.R203G|PTK2_uc003yvp.2_Missense_Mutation_p.R176G|PTK2_uc003yvq.2_Missense_Mutation_p.R34G|PTK2_uc003yvr.2_Missense_Mutation_p.R448G|PTK2_uc003yvs.2_Missense_Mutation_p.R508G|PTK2_uc003yvt.2_Missense_Mutation_p.R530G|PTK2_uc003yvv.2_Missense_Mutation_p.R408G|PTK2_uc011ljr.1_Missense_Mutation_p.R508G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	508	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141889685	141889685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141889685A>G	uc003yvu.2	-	4	477	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.Y83H|PTK2_uc003yvt.2_Missense_Mutation_p.Y105H|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.Y83H	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	83	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178176	142178176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142178176C>T	uc003yvy.2	+	13	1865	c.1587C>T	c.(1585-1587)TGC>TGT	p.C529C	DENND3_uc010mep.2_Silent_p.C490C|DENND3_uc003yvz.1_Silent_p.C213C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	529										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142231844	142231844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142231844T>C	uc003ywd.1	-	2	417	c.109A>G	c.(109-111)AGC>GGC	p.S37G	SLC45A4_uc003ywc.1_Missense_Mutation_p.S37G|SLC45A4_uc010meq.1_Missense_Mutation_p.S35G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	88	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---
BAI1	575	broad.mit.edu	37	8	143623370	143623370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143623370C>T	uc003ywm.2	+	27	3958	c.3775C>T	c.(3775-3777)CCC>TCC	p.P1259S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1259	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ARC	23237	broad.mit.edu	37	8	143694743	143694743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143694743G>A	uc003ywn.1	-	1	1091	c.890C>T	c.(889-891)CCG>CTG	p.P297L		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	297					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)																---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961155	143961155	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143961155G>A	uc003yxi.2	-	1	82	c.75C>T	c.(73-75)GGC>GGT	p.G25G	CYP11B1_uc003yxj.2_Silent_p.G25G|CYP11B1_uc010mey.2_Silent_p.G25G	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									Familial_Hyperaldosteronism_type_I				---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143994781G>A	uc003yxk.1	-	6	1044	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									Familial_Hyperaldosteronism_type_I				---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143994827	143994827	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143994827C>A	uc003yxk.1	-	6	998	c.995G>T	c.(994-996)CGG>CTG	p.R332L		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	332					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									Familial_Hyperaldosteronism_type_I				---	---	---	---
ZFP41	286128	broad.mit.edu	37	8	144332621	144332621	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144332621T>C	uc003yxw.2	+	2					ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193			zinc finger protein 41 homolog						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378517	144378517	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378517C>T	uc003yxy.3	+	3	1081	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	224	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144413431	144413431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144413431G>A	uc003yxz.2	-	2	220	c.201C>T	c.(199-201)TAC>TAT	p.Y67Y	TOP1MT_uc011lkd.1_Translation_Start_Site|TOP1MT_uc011lke.1_Translation_Start_Site|TOP1MT_uc010mfb.2_Translation_Start_Site|TOP1MT_uc010mfd.1_Translation_Start_Site	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	67					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)													---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144462909	144462909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144462909G>A	uc003yyb.2	+	11	1500	c.1367G>A	c.(1366-1368)CGT>CAT	p.R456H		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	481	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)															---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620360	144620360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144620360G>A	uc003yyd.2	-	2	1206	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	393					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)															---	---	---	---
TSTA3	7264	broad.mit.edu	37	8	144696501	144696501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144696501T>C	uc003yza.2	-	6	623	c.587A>G	c.(586-588)CAC>CGC	p.H196R	TSTA3_uc003yzb.2_Missense_Mutation_p.H196R	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	196					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)													---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874878	144874878	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144874878C>T	uc003yzp.1	-	30	4184	c.4177G>A	c.(4177-4179)GCC>ACC	p.A1393T	SCRIB_uc003yzn.1_Missense_Mutation_p.G102S|SCRIB_uc003yzo.1_Missense_Mutation_p.A1393T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1393	Potential.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144877663	144877663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144877663C>T	uc003yzp.1	-	25	3648	c.3641G>A	c.(3640-3642)GGC>GAC	p.G1214D	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.G1214D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1214	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144898884	144898884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144898884C>T	uc003yzs.2	-	12	1550	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.V436I|PUF60_uc003yzt.2_Missense_Mutation_p.V479I|PUF60_uc003yzq.2_Missense_Mutation_p.V453I	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	496	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144899832	144899832	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144899832G>A	uc003yzs.2	-	9	1002	c.938C>T	c.(937-939)GCC>GTC	p.A313V	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A253V|PUF60_uc003yzt.2_Missense_Mutation_p.A296V|PUF60_uc003yzq.2_Missense_Mutation_p.A270V|PUF60_uc003yzu.1_Missense_Mutation_p.A302V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	313	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144900179	144900179	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144900179C>T	uc003yzs.2	-	8	734	c.670G>A	c.(670-672)GCC>ACC	p.A224T	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A164T|PUF60_uc003yzt.2_Missense_Mutation_p.A207T|PUF60_uc003yzq.2_Missense_Mutation_p.A181T|PUF60_uc003yzu.1_Missense_Mutation_p.A213T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	224	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144902883	144902883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144902883C>T	uc003yzs.2	-	5	365	c.301G>A	c.(301-303)GCA>ACA	p.A101T	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.A58T|PUF60_uc003yzu.1_Missense_Mutation_p.A90T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
NRBP2	340371	broad.mit.edu	37	8	144920921	144920921	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144920921A>G	uc011lkt.1	-	10	911	c.771T>C	c.(769-771)AAT>AAC	p.N257N	NRBP2_uc003yzv.2_Silent_p.N14N|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.N14N|NRBP2_uc011lks.1_Silent_p.N14N|NRBP2_uc003yzy.2_Silent_p.N14N	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	257	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940304	144940304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144940304T>C	uc003zaa.1	-	2	15141	c.15128A>G	c.(15127-15129)AAC>AGC	p.N5043S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5043	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144942445	144942445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144942445C>T	uc003zaa.1	-	1	4990	c.4977G>A	c.(4975-4977)CAG>CAA	p.Q1659Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1659	Plectin 28.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991141	144991141	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991141A>G	uc003zaf.1	-	32	13429	c.13259T>C	c.(13258-13260)ATC>ACC	p.I4420T	PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4420	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991345	144991345	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991345T>C	uc003zaf.1	-	32	13225	c.13055A>G	c.(13054-13056)GAC>GGC	p.D4352G	PLEC_uc003zab.1_Missense_Mutation_p.D4215G|PLEC_uc003zac.1_Missense_Mutation_p.D4219G|PLEC_uc003zad.2_Missense_Mutation_p.D4215G|PLEC_uc003zae.1_Missense_Mutation_p.D4183G|PLEC_uc003zag.1_Missense_Mutation_p.D4193G|PLEC_uc003zah.2_Missense_Mutation_p.D4201G|PLEC_uc003zaj.2_Missense_Mutation_p.D4242G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4352	Globular 2.|Plectin 28.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993077	144993077	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993077C>T	uc003zaf.1	-	32	11493	c.11323G>A	c.(11323-11325)GCC>ACC	p.A3775T	PLEC_uc003zab.1_Missense_Mutation_p.A3638T|PLEC_uc003zac.1_Missense_Mutation_p.A3642T|PLEC_uc003zad.2_Missense_Mutation_p.A3638T|PLEC_uc003zae.1_Missense_Mutation_p.A3606T|PLEC_uc003zag.1_Missense_Mutation_p.A3616T|PLEC_uc003zah.2_Missense_Mutation_p.A3624T|PLEC_uc003zaj.2_Missense_Mutation_p.A3665T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3775	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993131	144993131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993131T>C	uc003zaf.1	-	32	11439	c.11269A>G	c.(11269-11271)ATC>GTC	p.I3757V	PLEC_uc003zab.1_Missense_Mutation_p.I3620V|PLEC_uc003zac.1_Missense_Mutation_p.I3624V|PLEC_uc003zad.2_Missense_Mutation_p.I3620V|PLEC_uc003zae.1_Missense_Mutation_p.I3588V|PLEC_uc003zag.1_Missense_Mutation_p.I3598V|PLEC_uc003zah.2_Missense_Mutation_p.I3606V|PLEC_uc003zaj.2_Missense_Mutation_p.I3647V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3757	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996247	144996247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144996247C>T	uc003zaf.1	-	32	8323	c.8153G>A	c.(8152-8154)CGG>CAG	p.R2718Q	PLEC_uc003zab.1_Missense_Mutation_p.R2581Q|PLEC_uc003zac.1_Missense_Mutation_p.R2585Q|PLEC_uc003zad.2_Missense_Mutation_p.R2581Q|PLEC_uc003zae.1_Missense_Mutation_p.R2549Q|PLEC_uc003zag.1_Missense_Mutation_p.R2559Q|PLEC_uc003zah.2_Missense_Mutation_p.R2567Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2608Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2718	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000981	145000981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145000981C>A	uc003zaf.1	-	30	4596	c.4426G>T	c.(4426-4428)GAG>TAG	p.E1476*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1339*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1343*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1339*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1307*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1317*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1325*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1366*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1476	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006562	145006562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145006562G>A	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145059959	145059959	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145059959A>C	uc003zal.3	-	3	474	c.366T>G	c.(364-366)CCT>CCG	p.P122P	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.P134P|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.P122P|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Missense_Mutation_p.L15R	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	122						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145140934	145140934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145140934A>G	uc003zax.2	+	12	1882	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	591	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SHARPIN	81858	broad.mit.edu	37	8	145154002	145154002	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145154002G>A	uc003zba.2	-	7	1513	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	343					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537516	145537516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145537516G>A	uc003zbt.3	+	11	1426	c.1256G>A	c.(1255-1257)AGC>AAC	p.S419N	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	419	Transactivation domain.|9aaTAD.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)															---	---	---	---
DGAT1	8694	broad.mit.edu	37	8	145542209	145542209	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145542209C>T	uc003zbv.3	-	6	757	c.489G>A	c.(487-489)GCG>GCA	p.A163A	DGAT1_uc010mfv.2_Silent_p.A163A	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	163	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
SCRT1	83482	broad.mit.edu	37	8	145557088	145557088	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145557088G>A	uc003zbw.1	-	2	918	c.806C>T	c.(805-807)TCG>TTG	p.S269L		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	269	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
GPR172A	79581	broad.mit.edu	37	8	145582977	145582977	+	Silent	SNP	T	C	C	rs146942171		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145582977T>C	uc003zcc.1	+	2	181	c.24T>C	c.(22-24)CGT>CGC	p.R8R	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_Intron|GPR172A_uc003zcd.1_Silent_p.R8R|GPR172A_uc003zce.1_Silent_p.R8R|GPR172A_uc010mfy.1_Silent_p.R8R|GPR172A_uc003zcf.1_Silent_p.R8R|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	8						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145620666	145620666	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145620666T>C	uc003zcj.2	-	27	3155	c.3080A>G	c.(3079-3081)TAC>TGC	p.Y1027C	MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1027					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145641443	145641443	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145641443G>A	uc003zcq.2	-	2	325	c.225C>T	c.(223-225)GGC>GGT	p.G75G	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.G50G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145661146	145661146	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145661146T>C	uc011llg.1	-	17	2685	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	890					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145664103	145664103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145664103C>T	uc011llg.1	-	12	1511	c.1496G>A	c.(1495-1497)GGC>GAC	p.G499D	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	499	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145665767	145665767	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145665767G>A	uc011llg.1	-	10	1272	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	419					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145735993	145735993	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145735993T>C	uc003zdi.1	+	3	1008	c.843T>C	c.(841-843)CCT>CCC	p.P281P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	281	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145745995	145745995	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145745995C>T	uc003zdk.1	+	3	849	c.703C>T	c.(703-705)CGC>TGC	p.R235C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R235C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	235											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
MGC70857	414919	broad.mit.edu	37	8	145753403	145753403	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145753403A>G	uc003zdp.1	-						LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_Intron	NM_001001795	NP_001001795			hypothetical protein LOC414919												0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947422	145947422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145947422C>T	uc003zdv.3	-	5	1879	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)														---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	146003824	146003824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146003824C>A	uc003zdy.3	-	3	198	c.96G>T	c.(94-96)CAG>CAT	p.Q32H	ZNF34_uc010mgb.2_Translation_Start_Site|ZNF34_uc003zdx.3_Missense_Mutation_p.Q11H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146016676	146016676	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146016676T>C	uc003zeb.2	-	4	596	c.485A>G	c.(484-486)AAC>AGC	p.N162S	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N126S|RPL8_uc003zec.2_Missense_Mutation_p.N162S|RPL8_uc010mgc.2_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146017173	146017173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146017173A>G	uc003zeb.2	-	3	376	c.265T>C	c.(265-267)TAT>CAT	p.Y89H	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.Y53H|RPL8_uc003zec.2_Missense_Mutation_p.Y89H|RPL8_uc010mgc.2_Missense_Mutation_p.Y89H	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117366	117366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117366C>T	uc003zfz.2	-	1	1052	c.754G>A	c.(754-756)GGG>AGG	p.G252R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:164038C>G	uc003zga.3	-	5	537	c.431_splice	c.e5-1	p.G144_splice	CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	NM_018491	NP_060961			COBW domain containing 1 isoform 1								ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
KANK1	23189	broad.mit.edu	37	9	710960	710960	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:710960A>C	uc003zgl.1	+	7	843	c.194A>C	c.(193-195)AAG>ACG	p.K65T	KANK1_uc003zgm.2_Missense_Mutation_p.K65T|KANK1_uc003zgn.1_Missense_Mutation_p.K65T|KANK1_uc003zgo.1_Missense_Mutation_p.K65T|KANK1_uc003zgp.1_Missense_Mutation_p.K65T|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	65					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	977247	977247	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:977247C>T	uc003zgw.1	+	1	284	c.246C>T	c.(244-246)AGC>AGT	p.S82S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990339	990339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:990339G>A	uc003zgw.1	+	2	791	c.753G>A	c.(751-753)CCG>CCA	p.P251P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	251					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1057243	1057243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:1057243T>C	uc003zha.2	+	4	1856	c.1656T>C	c.(1654-1656)CCT>CCC	p.P552P	DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039604	2039604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039604G>A	uc003zhc.2	+	4	593	c.494G>A	c.(493-495)AGC>AAC	p.S165N	SMARCA2_uc003zhd.2_Missense_Mutation_p.S165N|SMARCA2_uc010mha.2_Missense_Mutation_p.S156N	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	165					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039854	2039854	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039854G>A	uc003zhc.2	+	4	843	c.744G>A	c.(742-744)ACG>ACA	p.T248T	SMARCA2_uc003zhd.2_Silent_p.T248T|SMARCA2_uc010mha.2_Silent_p.T239T	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	248	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2170423	2170423	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2170423A>G	uc003zhc.2	+	29	4303	c.4204A>G	c.(4204-4206)AAC>GAC	p.N1402D	SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron|SMARCA2_uc011llw.1_Intron|SMARCA2_uc003zhf.2_Missense_Mutation_p.N66D|SMARCA2_uc011llx.1_Intron|SMARCA2_uc003zhe.2_Intron|SMARCA2_uc003zhg.2_Intron|SMARCA2_uc010mhb.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1402					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2635505	2635505	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2635505T>C	uc003zhk.1	+	2	532	c.135T>C	c.(133-135)TGT>TGC	p.C45C	VLDLR_uc003zhl.1_Silent_p.C45C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C45C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	45	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2648781	2648781	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2648781T>C	uc003zhk.1	+	14	2472	c.2075T>C	c.(2074-2076)ATT>ACT	p.I692T	VLDLR_uc003zhl.1_Missense_Mutation_p.I692T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.I651T	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	692	Extracellular (Potential).|LDL-receptor class B 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718173	2718173	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718173A>T	uc003zho.1	+	1	648	c.434A>T	c.(433-435)CAG>CTG	p.Q145L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	145	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718962	2718962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718962A>G	uc003zho.1	+	1	1437	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	408	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2729454	2729454	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2729454C>A	uc003zho.1	+	2	1579	c.1365C>A	c.(1363-1365)ATC>ATA	p.I455I		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3898791	3898791	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3898791G>A	uc003zhw.1	-	6	1757	c.1563C>T	c.(1561-1563)TGC>TGT	p.C521C	GLIS3_uc003zhx.1_Silent_p.C676C|GLIS3_uc010mhf.1_Silent_p.C70C|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.C454C|GLIS3_uc003zhz.1_Silent_p.C454C|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	521					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	4117945	4117945	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4117945G>A	uc003zhw.1	-	3	1262	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	GLIS3_uc003zhx.1_Silent_p.Y511Y|GLIS3_uc003zic.1_Silent_p.Y511Y|GLIS3_uc003zie.1_Silent_p.Y511Y|GLIS3_uc010mhh.1_Silent_p.Y386Y|GLIS3_uc003zid.1_Silent_p.Y289Y|GLIS3_uc010mhi.1_Silent_p.Y318Y|GLIS3_uc003zif.1_Silent_p.Y289Y|GLIS3_uc003zig.1_Silent_p.Y355Y|GLIS3_uc003zih.1_Silent_p.Y289Y|GLIS3_uc003zhy.1_Silent_p.Y289Y|GLIS3_uc003zhz.1_Silent_p.Y289Y|GLIS3_uc003zib.1_Silent_p.Y355Y|GLIS3_uc010mhg.1_Silent_p.Y289Y	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	356	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5044429	5044429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5044429G>A	uc010mhm.2	+	4	490	c.377G>A	c.(376-378)AGT>AAT	p.S126N	JAK2_uc003ziw.2_Missense_Mutation_p.S126N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	126	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5070030	5070030	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5070030T>A	uc010mhm.2	+	11	1732	c.1619T>A	c.(1618-1620)ATC>AAC	p.I540N	JAK2_uc003ziw.2_Missense_Mutation_p.I540N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	540					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.I540_E543>MK(7)|p.I540_D544>MK(1)|p.I540I(1)|p.I540_E543>KK(1)|p.I540_N542>S(1)|p.H538_I540>DLS(1)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
PDCD1LG2	80380	broad.mit.edu	37	9	5557640	5557640	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5557640T>A	uc003zjg.3	+	5	927	c.654T>A	c.(652-654)CAT>CAA	p.H218Q	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.H218Q|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.S217T|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.S127T|PDCD1LG2_uc010mho.1_Missense_Mutation_p.H128Q	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	218	Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7013971	7013971	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7013971T>C	uc003zkh.2	+	14	2732	c.2152T>C	c.(2152-2154)TGT>CGT	p.C718R	KDM4C_uc010mhu.2_Missense_Mutation_p.C740R|KDM4C_uc011lmi.1_Missense_Mutation_p.C718R|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.C718R|KDM4C_uc011lmk.1_Missense_Mutation_p.C463R|KDM4C_uc011lml.1_Missense_Mutation_p.C405R	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	718	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8633320G>A	uc003zkk.2	-	13	1060	c.349C>T	c.(349-351)CGG>TGG	p.R117W	PTPRD_uc003zkp.2_Missense_Mutation_p.R117W|PTPRD_uc003zkq.2_Missense_Mutation_p.R117W|PTPRD_uc003zkr.2_Missense_Mutation_p.R117W|PTPRD_uc003zks.2_Missense_Mutation_p.R117W|PTPRD_uc003zkl.2_Missense_Mutation_p.R117W|PTPRD_uc003zkm.2_Missense_Mutation_p.R117W|PTPRD_uc003zkn.2_Missense_Mutation_p.R117W|PTPRD_uc003zko.2_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13107034	13107034	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13107034A>G	uc010mhy.2	-	45	6107	c.6056T>C	c.(6055-6057)GTC>GCC	p.V2019A	MPDZ_uc003zkx.3_Missense_Mutation_p.V243A|MPDZ_uc003zky.3_Missense_Mutation_p.V582A|MPDZ_uc010mib.2_Missense_Mutation_p.V753A|MPDZ_uc010mhx.2_Missense_Mutation_p.V870A|MPDZ_uc011lmm.1_Missense_Mutation_p.V907A|MPDZ_uc003zkz.3_Missense_Mutation_p.V741A|MPDZ_uc010mhz.2_Missense_Mutation_p.V2015A|MPDZ_uc011lmn.1_Missense_Mutation_p.V1986A|MPDZ_uc003zlb.3_Missense_Mutation_p.V2019A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2048	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168518	13168518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13168518C>T	uc010mia.1	-	21	3158	c.3101G>A	c.(3100-3102)CGA>CAA	p.R1034Q	MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1034Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1034Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1034Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1034Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1034	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13247792	13247792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13247792G>A	uc010mia.1	-	2	82	c.25C>T	c.(25-27)CGG>TGG	p.R9W	MPDZ_uc010mhy.2_Missense_Mutation_p.R9W|MPDZ_uc010mhz.2_Missense_Mutation_p.R9W|MPDZ_uc011lmn.1_Missense_Mutation_p.R9W|MPDZ_uc003zlb.3_Missense_Mutation_p.R9W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	9	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14120524	14120524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14120524A>T	uc003zle.2	-	8	1595	c.1160T>A	c.(1159-1161)ATC>AAC	p.I387N	NFIB_uc003zld.2_Missense_Mutation_p.I135N|NFIB_uc003zlf.2_Missense_Mutation_p.I387N|NFIB_uc011lmo.1_Missense_Mutation_p.I387N	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	387					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)				T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14801642	14801642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14801642T>C	uc003zlm.2	-						FREM1_uc010mic.2_Intron	NM_144966	NP_659403			FRAS1 related extracellular matrix 1 precursor						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842570	14842570	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14842570G>A	uc003zlm.2	-	9	2072	c.1482C>T	c.(1480-1482)TTC>TTT	p.F494F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	494	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15267953	15267953	+	Intron	SNP	G	A	A	rs35213800		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15267953G>A	uc003zlr.1	-						TTC39B_uc010mie.1_Intron|TTC39B_uc011lmq.1_Intron|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Intron|TTC39B_uc010mig.1_Intron|TTC39B_uc011lms.1_Intron	NM_152574	NP_689787			tetratricopeptide repeat domain 39B								binding			ovary(1)	1																		---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16583063	16583063	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16583063T>C	uc003zml.2	-	4	491	c.351A>G	c.(349-351)GTA>GTG	p.V117V	BNC2_uc011lmw.1_Silent_p.V22V|BNC2_uc003zmm.2_Silent_p.V75V|BNC2_uc003zmq.1_Silent_p.V131V|BNC2_uc003zmr.1_Silent_p.V154V|BNC2_uc003zmp.1_Silent_p.V145V|BNC2_uc010mij.1_Silent_p.V39V|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Silent_p.V39V|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17394904	17394904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)														---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17789413	17789413	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17789413T>G	uc003zna.2	+	6	777	c.489T>G	c.(487-489)GGT>GGG	p.G163G	SH3GL2_uc011lmx.1_Silent_p.G128G|SH3GL2_uc011lmy.1_Silent_p.G116G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	163	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18504839G>A	uc003zne.3	+	2	203	c.76G>A	c.(76-78)GCA>ACA	p.A26T	ADAMTSL1_uc003znb.2_Missense_Mutation_p.A26T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.A26T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	26						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18684731	18684731	+	Missense_Mutation	SNP	G	A	A	rs149221350	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18684731G>A	uc003zne.3	+	13	1634	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	ADAMTSL1_uc003znc.3_Missense_Mutation_p.A503T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	503						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826377	18826377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18826377T>C	uc003zne.3	+	22	4157	c.4030T>C	c.(4030-4032)TCC>CCC	p.S1344P	ADAMTSL1_uc003znf.3_Missense_Mutation_p.S45P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1344	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928404	18928404	+	Silent	SNP	G	A	A	rs141278609		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18928404G>A	uc003zni.1	-	4	1349	c.1071C>T	c.(1069-1071)CCC>CCT	p.P357P	FAM154A_uc010mip.1_Silent_p.P165P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	357										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18941824	18941824	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18941824G>A	uc003zni.1	-	3	510	c.232C>T	c.(232-234)CCT>TCT	p.P78S	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	78										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19446249	19446249	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19446249C>T	uc003zny.1	+						ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Intron	NM_001010887	NP_001010887			alkaline ceramidase 2						ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2																		---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20881935	20881935	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20881935C>T	uc003zog.1	+	22	2746	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	KIAA1797_uc003zoh.1_Missense_Mutation_p.H231Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	795						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)														---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333123	21333123	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21333123T>A	uc003zoy.2	-	1	2307	c.1736A>T	c.(1735-1737)GAT>GTT	p.D579V	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	579	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)														---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409397	21409397	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21409397T>A	uc003zpc.1	+	1	252	c.222T>A	c.(220-222)GCT>GCA	p.A74A		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)														---	---	---	---
IFNE	338376	broad.mit.edu	37	9	21481336	21481336	+	Missense_Mutation	SNP	G	T	T	rs143925423		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21481336G>T	uc003zpg.2	-	1	977	c.358C>A	c.(358-360)CTA>ATA	p.L120I	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	120					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0																		---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22447088	22447088	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:22447088C>G	uc003zpp.1	+	1	249	c.24C>G	c.(22-24)AGC>AGG	p.S8R		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	8					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26842414	26842414	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26842414G>T	uc003zqc.2	-	6	983	c.971C>A	c.(970-972)CCT>CAT	p.P324H	C9orf82_uc003zqb.2_Missense_Mutation_p.P179H	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	324											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26887301	26887301	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26887301A>G	uc003zqc.2	-						C9orf82_uc003zqb.2_Intron	NM_024828	NP_079104			hypothetical protein LOC79886												0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26917168	26917168	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26917168G>A	uc003zqd.2	-						PLAA_uc003zqe.2_Intron	NM_001031689	NP_001026859			phospholipase A2-activating protein						phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26919405	26919405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26919405A>T	uc003zqd.2	-	9	1745	c.1320T>A	c.(1318-1320)AAT>AAA	p.N440K	PLAA_uc003zqe.2_Missense_Mutation_p.N440K	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	440	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26935065	26935065	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26935065A>G	uc003zqd.2	-	2	714	c.289T>C	c.(289-291)TTC>CTC	p.F97L	PLAA_uc003zqe.2_Missense_Mutation_p.F97L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	97	WD 2.			F -> L (in Ref. 5; AAD42075).	phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
LRRC19	64922	broad.mit.edu	37	9	26997993	26997993	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26997993A>G	uc003zqh.2	-	3	439	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	110	LRR 3.|Extracellular (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)														---	---	---	---
MOBKL2B	79817	broad.mit.edu	37	9	27455355	27455355	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27455355A>G	uc003zqn.2	-	2	690	c.194T>C	c.(193-195)GTG>GCG	p.V65A		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	65							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32418352	32418352	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32418352G>A	uc003zqw.3	+	6	656	c.501G>A	c.(499-501)ATG>ATA	p.M167I	ACO1_uc010mjh.1_Missense_Mutation_p.M1I|ACO1_uc003zqx.3_Missense_Mutation_p.M167I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	167					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630784	32630784	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630784A>G	uc003zrg.1	-	1	4884	c.4794T>C	c.(4792-4794)AGT>AGC	p.S1598S	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1598	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633593	32633593	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32633593A>T	uc003zrg.1	-	1	2075	c.1985T>A	c.(1984-1986)ATC>AAC	p.I662N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	662					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634929	32634929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32634929C>T	uc003zrg.1	-	1	739	c.649G>A	c.(649-651)GCA>ACA	p.A217T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	217					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33271164	33271164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33271164A>G	uc003zsl.3	+	6	685	c.330A>G	c.(328-330)AAA>AAG	p.K110K	SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Silent_p.K110K|CHMP5_uc011lnv.1_Silent_p.K110K|CHMP5_uc003zsn.2_RNA	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5	110	Potential.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)															---	---	---	---
AQP7	364	broad.mit.edu	37	9	33386120	33386120	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33386120G>A	uc003zst.2	-	6	652	c.480C>T	c.(478-480)ACC>ACT	p.T160T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T103T|AQP7_uc010mjs.2_Silent_p.T68T|AQP7_uc010mjt.2_Silent_p.T68T|AQP7_uc011lnx.1_Silent_p.T160T|AQP7_uc011lny.1_Silent_p.T159T|AQP7_uc003zss.3_Silent_p.T68T|AQP7_uc011lnz.1_Silent_p.T68T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	160	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33463366	33463366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33463366C>T	uc003zsz.2	-	24	3169	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R77H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R1020H|NOL6_uc011lob.1_Missense_Mutation_p.R971H|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1023					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33468037	33468037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33468037T>C	uc003zsz.2	-	11	1516	c.1415A>G	c.(1414-1416)CAT>CGT	p.H472R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H472R|NOL6_uc010mjv.2_Missense_Mutation_p.H469R|NOL6_uc011lob.1_Missense_Mutation_p.H420R|NOL6_uc003ztb.1_Missense_Mutation_p.H472R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	472					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33973225	33973225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33973225A>G	uc003ztq.1	-	7	644	c.531T>C	c.(529-531)CGT>CGC	p.R177R	UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Silent_p.R102R|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	177										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)														---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34256008	34256008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34256008T>C	uc003zua.3	-	11	3717	c.3597A>G	c.(3595-3597)GTA>GTG	p.V1199V	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1199					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)															---	---	---	---
NUDT2	318	broad.mit.edu	37	9	34343290	34343290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34343290A>G	uc003zub.2	+	5	654	c.296A>G	c.(295-297)AAG>AGG	p.K99R	NUDT2_uc003zuc.2_Missense_Mutation_p.K99R|NUDT2_uc003zud.2_Missense_Mutation_p.K99R	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	99	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34372048	34372048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34372048A>G	uc003zue.3	-	3	1061	c.894T>C	c.(892-894)CGT>CGC	p.R298R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
GALT	2592	broad.mit.edu	37	9	34646774	34646774	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34646774C>A	uc003zve.2	+	1	140	c.73C>A	c.(73-75)CGG>AGG	p.R25R	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_5'UTR|GALT_uc011lop.1_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	25					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GALT	2592	broad.mit.edu	37	9	34647969	34647969	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34647969T>A	uc003zve.2	+						GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_Intron|GALT_uc003zvh.2_Intron|GALT_uc011lop.1_Intron|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146			galactose-1-phosphate uridylyltransferase						galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
GALT	2592	broad.mit.edu	37	9	34648762	34648762	+	Missense_Mutation	SNP	C	T	T	rs111033749		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34648762C>T	uc003zve.2	+	8	758	c.691C>T	c.(691-693)CGT>TGT	p.R231C	GALT_uc003zvf.2_Missense_Mutation_p.R122C|GALT_uc003zvg.2_Missense_Mutation_p.R103C|GALT_uc003zvh.2_Missense_Mutation_p.R183C|GALT_uc011lop.1_Missense_Mutation_p.R183C|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	231			R -> H (in GALCT; 15% of normal activity).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971621	34971621	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34971621G>A	uc003zvq.2	+	2	504	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	KIAA1045_uc003zvr.2_Missense_Mutation_p.R109Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	109							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34978047	34978047	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34978047T>A	uc003zvq.2	+	8	1320	c.1142T>A	c.(1141-1143)GTC>GAC	p.V381D	KIAA1045_uc003zvr.2_Missense_Mutation_p.V381D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	381							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043238	35043238	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35043238C>T	uc003zvw.2	+	2	641	c.612C>T	c.(610-612)AGC>AGT	p.S204S	C9orf131_uc003zvu.2_Silent_p.S156S|C9orf131_uc003zvv.2_Silent_p.S131S|C9orf131_uc003zvx.2_Silent_p.S169S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	204											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35078616	35078616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35078616C>T	uc003zwb.1	-	3	785	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R98Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	98					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)					Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091255	35091255	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35091255T>A	uc003zwd.2	-	7	3025	c.2629A>T	c.(2629-2631)ATA>TTA	p.I877L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.I460L|PIGO_uc003zwf.2_Missense_Mutation_p.I460L|PIGO_uc003zwg.1_Missense_Mutation_p.I440L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	877	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
KIAA1539	80256	broad.mit.edu	37	9	35107420	35107420	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35107420G>T	uc003zwl.2	-	3	1177	c.852C>A	c.(850-852)CCC>CCA	p.P284P	KIAA1539_uc003zwm.2_Silent_p.P284P|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.P284P|KIAA1539_uc003zwp.1_Silent_p.P284P|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	284						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35259056	35259056	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35259056G>A	uc003zwq.2	+						UNC13B_uc010mkl.1_Intron|UNC13B_uc003zwr.2_Intron	NM_006377	NP_006368			UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)													OREG0019168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35380473	35380473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35380473C>T	uc003zwq.2	+	17	2257	c.1965C>T	c.(1963-1965)TGC>TGT	p.C655C	UNC13B_uc003zwr.2_Silent_p.C655C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	655	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35382434	35382434	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35382434C>T	uc003zwq.2	+	20	2781	c.2489C>T	c.(2488-2490)GCC>GTC	p.A830V	UNC13B_uc003zwr.2_Missense_Mutation_p.A830V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	830					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547295	35547295	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547295C>T	uc003zww.2	+	2	1032	c.777C>T	c.(775-777)TCC>TCT	p.S259S	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.S259S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	259						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547634	35547634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547634G>A	uc003zww.2	+	2	1371	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P372P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	372						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35561189	35561189	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35561189C>T	uc003zww.2	+	12	4616	c.4361C>T	c.(4360-4362)GCA>GTA	p.A1454V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1454V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1454	SH3.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609008	35609008	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35609008C>T	uc003zxa.2	+	10	1486	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Missense_Mutation_p.R224W	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	384					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
SIT1	27240	broad.mit.edu	37	9	35650822	35650822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35650822G>A	uc003zxe.1	-	1	126	c.29C>T	c.(28-30)GCA>GTA	p.A10V	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	10					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TPM2	7169	broad.mit.edu	37	9	35685136	35685136	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35685136G>A	uc003zxq.2	-	6	803	c.564C>T	c.(562-564)AGC>AGT	p.S188S	TPM2_uc003zxr.2_Intron|TPM2_uc003zxs.2_Intron|TPM2_uc010mkz.2_Silent_p.S188S|TPM2_uc011lpa.1_3'UTR	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	188	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720857	35720857	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35720857C>T	uc003zxt.2	-	11	1512	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	386	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
HINT2	84681	broad.mit.edu	37	9	35813042	35813042	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35813042T>C	uc003zyh.2	-	5					SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_3'UTR	NM_032593	NP_115982			PKCI-1-related HIT protein precursor						apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity				0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37304177	37304177	+	Intron	SNP	T	C	C	rs138557652		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37304177T>C	uc003zzq.2	+						ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Intron|ZCCHC7_uc010mlt.2_Intron	NM_032226	NP_115602			zinc finger, CCHC domain containing 7								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)														---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440560	37440560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37440560G>A	uc003zzx.2	-	2	2189	c.1989C>T	c.(1987-1989)ACC>ACT	p.T663T		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	663	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)														---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37521836	37521836	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37521836C>T	uc004aab.2	-	8	1980	c.1931_splice	c.e8-1	p.A644_splice	FBXO10_uc004aac.2_Splice_Site_p.A660_splice|FBXO10_uc004aad.2_Splice_Site_p.A194_splice	NM_012166	NP_036298			F-box protein 10							ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)														---	---	---	---
MCART1	92014	broad.mit.edu	37	9	37888102	37888102	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37888102T>G	uc004aau.2	-	3	1190	c.446A>C	c.(445-447)AAG>ACG	p.K149T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K149T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	149	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)														---	---	---	---
ANKRD20A3	441425	broad.mit.edu	37	9	42368597	42368597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:42368597C>T	uc004acd.2	+	1	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D	ANKRD20A3_uc010mmv.2_Silent_p.D61D	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	61											0																		---	---	---	---
FOXD4L3	286380	broad.mit.edu	37	9	70918913	70918913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70918913G>A	uc004agm.1	+	1	1131	c.1046G>A	c.(1045-1047)CGT>CAT	p.R349H		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)														---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70999325	70999325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70999325G>A	uc004agr.2	+	3	665	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	146					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836211	71836211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836211C>T	uc004ahe.2	+	5	951	c.751C>T	c.(751-753)CGA>TGA	p.R251*	TJP2_uc011lrs.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahb.1_Nonsense_Mutation_p.R228*|TJP2_uc011lrt.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahd.2_Nonsense_Mutation_p.R251*|TJP2_uc004ahf.2_Nonsense_Mutation_p.R251*|TJP2_uc011lru.1_Nonsense_Mutation_p.R255*|TJP2_uc011lrv.1_Nonsense_Mutation_p.R273*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	251					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
APBA1	320	broad.mit.edu	37	9	72046302	72046302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72046302T>C	uc004ahh.2	-	13	2731	c.2455A>G	c.(2455-2457)ACA>GCA	p.T819A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	819	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1																		---	---	---	---
PTAR1	375743	broad.mit.edu	37	9	72338404	72338404	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72338404G>T	uc004ahj.3	-	6	807	c.785C>A	c.(784-786)CCT>CAT	p.P262H	PTAR1_uc004ahi.2_Missense_Mutation_p.P183H	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	262					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
C9orf135	138255	broad.mit.edu	37	9	72521056	72521056	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72521056T>A	uc004ahl.2	+	6					C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_3'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	NM_001010940	NP_001010940			hypothetical protein LOC138255							integral to membrane				ovary(1)	1																		---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72892398	72892398	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72892398A>G	uc004ahr.2	+							NM_015110	NP_055925			SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KLF9	687	broad.mit.edu	37	9	73002756	73002756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73002756C>T	uc004aht.2	-	2	1965	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	224	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73240126	73240126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73240126T>C	uc004aid.2	-	13	1998	c.1754A>G	c.(1753-1755)AAC>AGC	p.N585S	TRPM3_uc004ahu.2_Missense_Mutation_p.N415S|TRPM3_uc004ahv.2_Missense_Mutation_p.N397S|TRPM3_uc004ahw.2_Missense_Mutation_p.N457S|TRPM3_uc004ahx.2_Missense_Mutation_p.N444S|TRPM3_uc004ahy.2_Missense_Mutation_p.N457S|TRPM3_uc004ahz.2_Missense_Mutation_p.N444S|TRPM3_uc004aia.2_Missense_Mutation_p.N432S|TRPM3_uc004aib.2_Missense_Mutation_p.N432S|TRPM3_uc004aic.2_Missense_Mutation_p.N585S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	610	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74313130	74313130	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74313130A>T	uc011lsa.1	-						TMEM2_uc011lrz.1_Intron|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74315635	74315635	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74315635T>A	uc011lsa.1	-	19	3840	c.3300A>T	c.(3298-3300)GAA>GAT	p.E1100D	TMEM2_uc011lrz.1_Missense_Mutation_p.E93D|TMEM2_uc010mos.2_Missense_Mutation_p.E1037D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1100						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74319730	74319730	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74319730T>C	uc011lsa.1	-						TMEM2_uc011lrz.1_5'UTR|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74360123	74360123	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74360123C>T	uc011lsa.1	-	4	1385	c.845G>A	c.(844-846)AGT>AAT	p.S282N	TMEM2_uc010mos.2_Missense_Mutation_p.S282N|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	282						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
GDA	9615	broad.mit.edu	37	9	74817550	74817550	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74817550A>G	uc004aiq.2	+	3	459	c.276A>G	c.(274-276)GGA>GGG	p.G92G	GDA_uc011lse.1_Silent_p.G18G|GDA_uc011lsf.1_Silent_p.G18G|GDA_uc004air.2_Silent_p.G92G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G50G|GDA_uc004ait.1_Silent_p.G18G	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)														---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75355124	75355124	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75355124A>C	uc004aiz.1	+	9	992	c.452A>C	c.(451-453)AAG>ACG	p.K151T	TMC1_uc010moz.1_Missense_Mutation_p.K109T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.K5T|TMC1_uc010mpa.1_Missense_Mutation_p.K5T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	151	Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				ovary(1)	1																		---	---	---	---
RORB	6096	broad.mit.edu	37	9	77280434	77280434	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77280434G>A	uc004aji.2	+	7	1005	c.956G>A	c.(955-957)TGC>TAC	p.C319Y	RORB_uc004ajh.2_Missense_Mutation_p.C308Y	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	319	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77397726	77397726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77397726A>G	uc004ajl.1	-	22	3201	c.2963T>C	c.(2962-2964)CTG>CCG	p.L988P	TRPM6_uc004ajk.1_Missense_Mutation_p.L983P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.L274P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	988	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
OSTF1	26578	broad.mit.edu	37	9	77755767	77755767	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77755767A>G	uc004ajv.3	+	9	716	c.505A>G	c.(505-507)AGA>GGA	p.R169G	OSTF1_uc004ajw.3_Missense_Mutation_p.R126G|OSTF1_uc004ajx.3_Missense_Mutation_p.R172G	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	169					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	78907144	78907144	+	IGR	SNP	T	C	C	rs148732504		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78907144T>C								PCSK5 (98806 upstream) : RFK (93289 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	78953147	78953147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78953147T>C	uc004akc.1	+	7	1145	c.925T>C	c.(925-927)TAT>CAT	p.Y309H						Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.																														---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79323928	79323928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79323928A>G	uc010mpk.2	-	8	3386	c.3262T>C	c.(3262-3264)TAC>CAC	p.Y1088H		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1088					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465382	79465382	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465382G>A	uc010mpk.2	-	3	465	c.341C>T	c.(340-342)GCG>GTG	p.A114V	PRUNE2_uc004akn.2_Missense_Mutation_p.A114V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	114					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465470	79465470	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465470A>G	uc010mpk.2	-	3	377	c.253T>C	c.(253-255)TTC>CTC	p.F85L	PRUNE2_uc004akn.2_Missense_Mutation_p.F85L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	85					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79896801	79896801	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79896801G>A	uc004akr.2	+	28	3183	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	VPS13A_uc004akp.3_Missense_Mutation_p.D975N|VPS13A_uc004akq.3_Missense_Mutation_p.D975N|VPS13A_uc004aks.2_Missense_Mutation_p.D975N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	975					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79946953	79946953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79946953T>C	uc004akr.2	+	46	6279	c.6019T>C	c.(6019-6021)TCT>CCT	p.S2007P	VPS13A_uc004akp.3_Missense_Mutation_p.S2007P|VPS13A_uc004akq.3_Missense_Mutation_p.S2007P|VPS13A_uc004aks.2_Missense_Mutation_p.S1968P|VPS13A_uc004akt.2_Missense_Mutation_p.S347P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2007					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80144131	80144131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80144131T>C	uc004aku.2	-	2	686	c.163A>G	c.(163-165)ATG>GTG	p.M55V		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	55					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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			ovary(2)	2																		---	---	---	---
GNAQ	2776	broad.mit.edu	37	9	80343493	80343493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80343493T>C	uc004akw.2	-	6	867	c.826A>G	c.(826-828)AAA>GAA	p.K276E	GNAQ_uc011lso.1_Missense_Mutation_p.K74E	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	276	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193								Mis		uveal melanoma								---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80915531	80915531	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80915531T>C	uc004ala.2	+	2	142	c.74T>C	c.(73-75)ATA>ACA	p.I25T	PSAT1_uc004alb.2_Missense_Mutation_p.I25T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	25					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80943013	80943013	+	Missense_Mutation	SNP	C	T	T	rs113824905		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80943013C>T	uc004ala.2	+	8	984	c.916C>T	c.(916-918)CGC>TGC	p.R306C	PSAT1_uc004alb.2_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	306					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006496	82006496	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006496C>T								None (None upstream) : TLE4 (180382 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006606	82006606	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006606G>A								None (None upstream) : TLE4 (180272 downstream)																																			---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82242307	82242307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82242307C>T	uc004ald.2	+	6	1162	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	TLE4_uc004alc.2_Nonsense_Mutation_p.Q112*|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Nonsense_Mutation_p.Q105*|TLE4_uc004alf.2_Nonsense_Mutation_p.Q50*	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82319820	82319820	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82319820A>T	uc004ald.2	+						TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936			transducin-like enhancer protein 4											lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84199195	84199195	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84199195C>T	uc004aly.2	-	20	2672	c.2231G>A	c.(2230-2232)AGC>AAC	p.S744N	TLE1_uc004alz.2_Missense_Mutation_p.S754N|TLE1_uc011lsr.1_Missense_Mutation_p.S729N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	744	WD 6.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84248267	84248267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84248267C>T	uc004aly.2	-	8	1031	c.590G>A	c.(589-591)GGC>GAC	p.G197D	TLE1_uc004alz.2_Missense_Mutation_p.G207D|TLE1_uc011lsr.1_Missense_Mutation_p.G197D|TLE1_uc004ama.1_Missense_Mutation_p.G197D|TLE1_uc011lss.1_Intron	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	197	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606307	84606307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606307G>A	uc004amn.2	+	4	969	c.922G>A	c.(922-924)GAT>AAT	p.D308N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	308						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606581	84606581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606581T>C	uc004amn.2	+	4	1243	c.1196T>C	c.(1195-1197)ATA>ACA	p.I399T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	399						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84607051	84607051	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84607051C>T	uc004amn.2	+	4	1713	c.1666C>T	c.(1666-1668)CCT>TCT	p.P556S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	556						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608052	84608052	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608052C>A	uc004amn.2	+	4	2714	c.2667C>A	c.(2665-2667)TCC>TCA	p.S889S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	889						integral to membrane					0																		---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85612040	85612040	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85612040A>T	uc004amo.1	-	14	2068	c.1807T>A	c.(1807-1809)TTC>ATC	p.F603I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	603					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3																		---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85913663	85913663	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85913663C>A	uc004ams.1	-	12	1272	c.1070G>T	c.(1069-1071)AGA>ATA	p.R357I	FRMD3_uc004amr.1_Missense_Mutation_p.R343I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	357						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86276735	86276735	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86276735A>C	uc004amv.2	-	11	2311	c.1737T>G	c.(1735-1737)GCT>GCG	p.A579A	UBQLN1_uc004amw.2_Silent_p.A551A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	579	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86294735	86294735	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86294735A>T	uc004amv.2	-	4	1240	c.666T>A	c.(664-666)AAT>AAA	p.N222K	UBQLN1_uc004amw.2_Missense_Mutation_p.N222K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	222					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
C9orf64	84267	broad.mit.edu	37	9	86570365	86570365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86570365A>G	uc004anb.2	-	2	776	c.528T>C	c.(526-528)AAT>AAC	p.N176N	C9orf64_uc004anc.2_Silent_p.N35N	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	176											0																		---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87285819	87285819	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87285819C>T	uc004aoa.1	+	4	1094	c.156C>T	c.(154-156)ATC>ATT	p.I52I	NTRK2_uc004anv.1_Silent_p.I52I|NTRK2_uc004any.1_Silent_p.I52I|NTRK2_uc004anz.1_Silent_p.I52I|NTRK2_uc011lsz.1_Silent_p.I52I|NTRK2_uc011lta.1_Silent_p.I52I|NTRK2_uc004aob.1_Silent_p.I52I|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	52	Extracellular (Potential).|LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87356849	87356849	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87356849A>G	uc004aoa.1	+						NTRK2_uc004anv.1_Intron|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Intron|NTRK2_uc011ltb.1_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87425480	87425480	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87425480C>A	uc004aoa.1	+						NTRK2_uc004anv.1_Missense_Mutation_p.P461T|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Missense_Mutation_p.P474T|NTRK2_uc011ltb.1_Missense_Mutation_p.P318T|NTRK2_uc004aoc.2_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87635214	87635214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87635214G>A	uc004aoa.1	+	19	3156	c.2218G>A	c.(2218-2220)GGG>AGG	p.G740R	NTRK2_uc004anz.1_Missense_Mutation_p.G756R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	740	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88234216	88234216	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88234216A>C	uc011ltd.1	-	15	2133	c.2100T>G	c.(2098-2100)AAT>AAG	p.N700K	AGTPBP1_uc004aod.3_Missense_Mutation_p.N326K|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N598K|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N660K|AGTPBP1_uc011lte.1_Missense_Mutation_p.N712K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	700					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7																		---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88943388	88943388	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88943388C>T	uc004aoq.2	-	11	1690	c.1475G>A	c.(1474-1476)AGC>AAC	p.S492N	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S369N|ZCCHC6_uc004aou.2_Missense_Mutation_p.S492N	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	492					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90254619	90254619	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90254619G>C	uc004apc.2	+						DAPK1_uc004ape.2_Intron|DAPK1_uc004apd.2_Intron|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Intron	NM_004938	NP_004929			death-associated protein kinase 1						apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2														Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				---	---	---	---
C9orf79	286234	broad.mit.edu	37	9	90503684	90503684	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90503684G>A	uc004app.3	+	4	4317	c.4282G>A	c.(4282-4284)GGC>AGC	p.G1428S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1428						integral to membrane				ovary(3)	3																		---	---	---	---
S1PR3	1903	broad.mit.edu	37	9	91617218	91617218	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91617218A>G	uc004aqe.2	+	2	1499	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	368	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91972374	91972374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91972374A>G	uc004aqj.1	+	15	2242	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	SECISBP2_uc011ltk.1_Missense_Mutation_p.Q720R|SECISBP2_uc004aqk.1_Missense_Mutation_p.Q648R|SECISBP2_uc010mqo.1_Missense_Mutation_p.Q426R|SECISBP2_uc011ltl.1_Missense_Mutation_p.Q653R	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	721					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92003858	92003858	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92003858C>T	uc004aqo.1	-	12	1451	c.879G>A	c.(877-879)CTG>CTA	p.L293L	SEMA4D_uc011ltm.1_Silent_p.L293L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L291L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	293	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92008521	92008521	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92008521C>T	uc004aqo.1	-	9	1036	c.464G>A	c.(463-465)AGA>AAA	p.R155K	SEMA4D_uc011ltm.1_Missense_Mutation_p.R155K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R153K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	155	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606454	93606454	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93606454C>T	uc004aqz.2	+	2	479	c.274C>T	c.(274-276)CAC>TAC	p.H92Y	SYK_uc004aqy.2_Missense_Mutation_p.H92Y|SYK_uc004ara.2_Missense_Mutation_p.H92Y|SYK_uc004arb.2_Missense_Mutation_p.H92Y|SYK_uc004arc.2_Missense_Mutation_p.H92Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	92	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
SYK	6850	broad.mit.edu	37	9	93636501	93636501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93636501G>A	uc004aqz.2	+	8	1136	c.931G>A	c.(931-933)GGG>AGG	p.G311R	SYK_uc004ara.2_Missense_Mutation_p.G288R|SYK_uc004arb.2_Missense_Mutation_p.G288R|SYK_uc004arc.2_Missense_Mutation_p.G311R|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	311	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
AUH	549	broad.mit.edu	37	9	93979588	93979588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93979588C>T	uc004arf.3	-	8	900	c.865G>A	c.(865-867)GCA>ACA	p.A289T	AUH_uc004arg.3_Missense_Mutation_p.A260T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	289					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172249	94172249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172249T>C	uc004arh.2	-	2	1163	c.768A>G	c.(766-768)TCA>TCG	p.S256S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94486078C>T	uc004arj.1	-	9	2897	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94487031	94487031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94487031G>A	uc004arj.1	-	9	1944	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	ROR2_uc004ari.1_Missense_Mutation_p.T442M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	582	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95040154	95040154	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95040154A>T	uc004art.1	-	9	1142	c.885T>A	c.(883-885)TAT>TAA	p.Y295*	IARS_uc004ars.1_Nonsense_Mutation_p.Y140*|IARS_uc004aru.3_Nonsense_Mutation_p.Y295*|IARS_uc010mqr.2_Nonsense_Mutation_p.Y185*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	295					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95077604	95077604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95077604C>T	uc004arv.2	-	7	1640	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E367K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	435					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95258669	95258669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95258669T>A	uc004ash.2	-	10	2093	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Missense_Mutation_p.E676D|ECM2_uc004asg.2_Missense_Mutation_p.E654D|ECM2_uc010mqz.1_Missense_Mutation_p.E98D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	676	LRR 13.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2																		---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95418797	95418797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95418797C>T	uc004asl.1	-	3	443	c.166G>A	c.(166-168)GTG>ATG	p.V56M		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	56					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95482980	95482980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95482980G>A	uc004aso.1	-	4	721	c.664C>T	c.(664-666)CTC>TTC	p.L222F	BICD2_uc004asp.1_Missense_Mutation_p.L222F	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	222	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95485026	95485026	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95485026C>T	uc004aso.1	-	3	575	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	BICD2_uc004asp.1_Missense_Mutation_p.R173Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	173	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95491462	95491462	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95491462C>T	uc004aso.1	-	2	354	c.297G>A	c.(295-297)CGG>CGA	p.R99R	BICD2_uc004asp.1_Silent_p.R99R	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	99	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95780478	95780478	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95780478T>A	uc004asw.2	+	11	1964	c.1336T>A	c.(1336-1338)TCC>ACC	p.S446T	FGD3_uc004asx.2_Missense_Mutation_p.S446T|FGD3_uc004asz.2_Missense_Mutation_p.S446T|FGD3_uc004ata.2_Missense_Mutation_p.S249T|FGD3_uc011luc.1_Missense_Mutation_p.S49T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	446	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95795136	95795136	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95795136T>C	uc004asw.2	+	16	2394	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A	FGD3_uc004asx.2_Missense_Mutation_p.V589A|FGD3_uc004asz.2_Missense_Mutation_p.V589A|FGD3_uc011luc.1_Missense_Mutation_p.V192A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	589					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96294524	96294524	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96294524T>C	uc004atw.2	+	10	1847	c.1822T>C	c.(1822-1824)TAT>CAT	p.Y608H	FAM120A_uc004atx.2_Missense_Mutation_p.Y390H|FAM120A_uc004aty.2_Missense_Mutation_p.Y389H|FAM120A_uc004atz.2_Missense_Mutation_p.Y257H|FAM120A_uc010mrg.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	608						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96312895	96312895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96312895G>A	uc004atw.2	+	12	2221	c.2196G>A	c.(2194-2196)CGG>CGA	p.R732R	FAM120A_uc004aty.2_Silent_p.R513R|FAM120A_uc004atz.2_Silent_p.R381R|FAM120A_uc010mrg.2_Silent_p.R45R	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	732						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98209422	98209422	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98209422C>A	uc004avk.3	-	23	4304	c.4116G>T	c.(4114-4116)ACG>ACT	p.T1372T	PTCH1_uc010mrn.2_Silent_p.T164T|PTCH1_uc010mro.2_Silent_p.T1221T|PTCH1_uc010mrp.2_Silent_p.T1221T|PTCH1_uc010mrq.2_Silent_p.T1221T|PTCH1_uc004avl.3_Silent_p.T1221T|PTCH1_uc010mrr.2_Silent_p.T1306T|PTCH1_uc004avm.3_Silent_p.T1371T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1372	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98222017	98222017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98222017C>T	uc004avk.3	-	17	2940	c.2752G>A	c.(2752-2754)GCT>ACT	p.A918T	PTCH1_uc010mro.2_Missense_Mutation_p.A767T|PTCH1_uc010mrp.2_Missense_Mutation_p.A767T|PTCH1_uc010mrq.2_Missense_Mutation_p.A767T|PTCH1_uc004avl.3_Missense_Mutation_p.A767T|PTCH1_uc010mrr.2_Missense_Mutation_p.A852T|PTCH1_uc004avm.3_Missense_Mutation_p.A917T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	918	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98231206	98231206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98231206T>C	uc004avk.3	-	14	2265	c.2077A>G	c.(2077-2079)ACA>GCA	p.T693A	PTCH1_uc010mro.2_Missense_Mutation_p.T542A|PTCH1_uc010mrp.2_Missense_Mutation_p.T542A|PTCH1_uc010mrq.2_Missense_Mutation_p.T542A|PTCH1_uc004avl.3_Missense_Mutation_p.T542A|PTCH1_uc010mrr.2_Missense_Mutation_p.T627A|PTCH1_uc004avm.3_Missense_Mutation_p.T692A|PTCH1_uc010mrs.1_Missense_Mutation_p.T361A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	693	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98232174	98232174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98232174G>A	uc004avk.3	-	13	1956	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F	PTCH1_uc010mro.2_Missense_Mutation_p.L439F|PTCH1_uc010mrp.2_Missense_Mutation_p.L439F|PTCH1_uc010mrq.2_Missense_Mutation_p.L439F|PTCH1_uc004avl.3_Missense_Mutation_p.L439F|PTCH1_uc010mrr.2_Missense_Mutation_p.L524F|PTCH1_uc004avm.3_Missense_Mutation_p.L589F|PTCH1_uc010mrs.1_Missense_Mutation_p.L258F	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	590	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98242681	98242681	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98242681A>T	uc004avk.3	-	6	1124	c.936T>A	c.(934-936)AAT>AAA	p.N312K	PTCH1_uc010mro.2_Missense_Mutation_p.N161K|PTCH1_uc010mrp.2_Missense_Mutation_p.N161K|PTCH1_uc010mrq.2_Missense_Mutation_p.N161K|PTCH1_uc004avl.3_Missense_Mutation_p.N161K|PTCH1_uc010mrr.2_Missense_Mutation_p.N246K|PTCH1_uc004avm.3_Missense_Mutation_p.N311K|PTCH1_uc010mrs.1_Missense_Mutation_p.N32K|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	312	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98678046	98678046	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98678046C>G	uc004avt.3	+	5	1306	c.918C>G	c.(916-918)GTC>GTG	p.V306V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V8V|C9orf102_uc010mry.1_Silent_p.V8V|C9orf102_uc010mrz.2_Silent_p.V117V	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	306	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98683463	98683463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98683463T>C	uc004avt.3	+	7	1586	c.1198T>C	c.(1198-1200)TAT>CAT	p.Y400H	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y102H|C9orf102_uc010mry.1_Missense_Mutation_p.Y102H|C9orf102_uc010mrz.2_Missense_Mutation_p.Y211H|C9orf102_uc004avu.2_5'Flank	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	400					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
SLC35D2	11046	broad.mit.edu	37	9	99113464	99113464	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99113464T>A	uc004awc.2	-						SLC35D2_uc010msd.2_Intron|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_3'UTR	NM_007001	NP_008932			solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99521344	99521344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99521344G>A	uc004awn.1	-	6	1957	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ZNF510_uc004awo.1_Missense_Mutation_p.H590Y	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	590	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99522242	99522242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99522242A>T	uc004awn.1	-	6	1059	c.870T>A	c.(868-870)AAT>AAA	p.N290K	ZNF510_uc004awo.1_Missense_Mutation_p.N290K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100074423	100074423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100074423G>A	uc011lut.1	+	16	1611	c.838G>A	c.(838-840)GCC>ACC	p.A280T	KIAA1529_uc004axe.1_Missense_Mutation_p.A280T|KIAA1529_uc004axg.1_Missense_Mutation_p.A141T|KIAA1529_uc011lus.1_Missense_Mutation_p.A141T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A141T|KIAA1529_uc011luv.1_Missense_Mutation_p.A141T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100093058	100093058	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100093058G>T	uc011lut.1	+						KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Intron|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron|KIAA1529_uc004axf.2_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100204028	100204028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100204028G>A	uc004axj.2	+	6	951	c.726G>A	c.(724-726)AAG>AAA	p.K242K	TDRD7_uc011lux.1_Silent_p.K168K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	242	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100222954	100222954	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100222954G>T	uc004axj.2	+	7	1575	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	TDRD7_uc011lux.1_Missense_Mutation_p.E376D	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	450					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100403911	100403911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100403911A>G	uc004axq.2	+	3	650	c.191A>G	c.(190-192)TAC>TGC	p.Y64C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	64	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100425241	100425241	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100425241A>G	uc004axq.2	+	18	2168	c.1709A>G	c.(1708-1710)CAT>CGT	p.H570R		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	570					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101533295	101533295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101533295G>A	uc004ayu.2	-	10	1876	c.1855C>T	c.(1855-1857)CCC>TCC	p.P619S	ANKS6_uc004ayt.2_Missense_Mutation_p.P318S|ANKS6_uc004ayv.1_Missense_Mutation_p.P81S|ANKS6_uc004ayw.1_Missense_Mutation_p.P201S|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	619	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101602296	101602296	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101602296G>A	uc004ayz.2	+	7	1225	c.1225G>A	c.(1225-1227)GAT>AAT	p.D409N		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	409	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101807006	101807006	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101807006T>C	uc004azb.1	+							NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101824277	101824277	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101824277G>A	uc004azb.1	+	37	3633	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1143	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103002483	103002483	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103002483A>G	uc004bap.1	+	6	969	c.757A>G	c.(757-759)AAC>GAC	p.N253D	INVS_uc010mta.1_Missense_Mutation_p.N157D|INVS_uc011lve.1_Missense_Mutation_p.N157D|INVS_uc004bao.1_Missense_Mutation_p.N253D|INVS_uc004baq.1_Missense_Mutation_p.N157D|INVS_uc004bar.1_Missense_Mutation_p.N157D|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	253					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054911	103054911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054911A>G	uc004bap.1	+	14	2584	c.2372A>G	c.(2371-2373)CAG>CGG	p.Q791R	INVS_uc011lve.1_Missense_Mutation_p.Q695R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.Q695R|INVS_uc010mtb.1_Missense_Mutation_p.Q465R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	791					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054982	103054982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054982C>T	uc004bap.1	+	14	2655	c.2443C>T	c.(2443-2445)CGG>TGG	p.R815W	INVS_uc011lve.1_Missense_Mutation_p.R719W|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.R719W|INVS_uc010mtb.1_Missense_Mutation_p.R489W	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103055045	103055045	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103055045A>G	uc004bap.1	+	14	2718	c.2506A>G	c.(2506-2508)ACA>GCA	p.T836A	INVS_uc011lve.1_Missense_Mutation_p.T740A|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.T740A|INVS_uc010mtb.1_Missense_Mutation_p.T510A	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	836					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103109393	103109393	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103109393T>A	uc004bas.2	-	3	691	c.476A>T	c.(475-477)GAC>GTC	p.D159V	TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162V|TEX10_uc011lvh.1_Missense_Mutation_p.D94V|TEX10_uc004bat.2_Missense_Mutation_p.D159V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)														---	---	---	---
LPPR1	54886	broad.mit.edu	37	9	104048518	104048518	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104048518G>T	uc004bbb.2	+	4	784	c.385G>T	c.(385-387)GGG>TGG	p.G129W	LPPR1_uc011lvi.1_Missense_Mutation_p.G105W|LPPR1_uc004bbc.2_Missense_Mutation_p.G129W|LPPR1_uc010mtc.2_Missense_Mutation_p.G113W	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	129	Helical; (Potential).					integral to membrane	catalytic activity				0																		---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104312974	104312974	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104312974T>C	uc004bbn.2	+	10	1269	c.1179T>C	c.(1177-1179)AAT>AAC	p.N393N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	393					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---
PPP3R2	5535	broad.mit.edu	37	9	104356949	104356949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104356949C>A	uc004bbr.2	-	1	335	c.264G>T	c.(262-264)AAG>AAT	p.K88N	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	85	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)													---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385604	104385604	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385604T>C	uc004bbp.1	-	5	3211	c.2610A>G	c.(2608-2610)ATA>ATG	p.I870M	GRIN3A_uc004bbq.1_Missense_Mutation_p.I870M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	870	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385638	104385638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385638C>T	uc004bbp.1	-	5	3177	c.2576G>A	c.(2575-2577)TGC>TAC	p.C859Y	GRIN3A_uc004bbq.1_Missense_Mutation_p.C859Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	859	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767460	105767460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767460G>A	uc004bbs.2	+	5	617	c.547G>A	c.(547-549)GGA>AGA	p.G183R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	183	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106900323	106900323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:106900323A>G	uc004bbv.2	+	24	3582	c.3294A>G	c.(3292-3294)ATA>ATG	p.I1098M	SMC2_uc004bbw.2_Missense_Mutation_p.I1098M|SMC2_uc011lvl.1_Missense_Mutation_p.I1098M|SMC2_uc004bbx.2_Missense_Mutation_p.I1098M|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1098	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9																		---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266759	107266759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107266759G>A	uc011lvm.1	+	1	216	c.216G>A	c.(214-216)TGG>TGA	p.W72*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289076	107289076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289076C>T	uc011lvn.1	-	1	415	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289113	107289113	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289113G>C	uc011lvn.1	-	1	378	c.378C>G	c.(376-378)ATC>ATG	p.I126M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107361037	107361037	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107361037A>T	uc011lvp.1	-	1	658	c.658T>A	c.(658-660)TTA>ATA	p.L220I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107457074	107457074	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107457074C>A	uc011lvs.1	+	1	372	c.372C>A	c.(370-372)ATC>ATA	p.I124I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	124	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107535336	107535336	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107535336A>G	uc004bci.2	+	6	797	c.726A>G	c.(724-726)TCA>TCG	p.S242S	NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	242										pancreas(1)|skin(1)	2																		---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108382347	108382347	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108382347G>A	uc004bcr.2	+						FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Intron|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Intron	NM_001079802	NP_001073270			fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109687976	109687976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109687976G>A	uc004bcz.2	+	3	2072	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	ZNF462_uc010mto.2_Missense_Mutation_p.A443T|ZNF462_uc004bda.2_Missense_Mutation_p.A443T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	595					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617647	111617647	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617647G>A	uc004bdi.2	-	1	629	c.564C>T	c.(562-564)TCC>TCT	p.S188S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617817	111617817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617817A>G	uc004bdi.2	-	1	459	c.394T>C	c.(394-396)TAC>CAC	p.Y132H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	132						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625473	111625473	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625473A>G	uc004bdj.1	+	1	871	c.871A>G	c.(871-873)AAA>GAA	p.K291E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	291						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625641	111625641	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625641G>A	uc004bdj.1	+	1	1039	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	347						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
C9orf6	54942	broad.mit.edu	37	9	111697919	111697919	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111697919T>C	uc004bdn.2	+	2	175	c.81T>C	c.(79-81)GAT>GAC	p.D27D	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_RNA	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	27					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)														---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111962507	111962507	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111962507A>G	uc004bdz.1	-							NM_019114	NP_061987			erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112029765	112029765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112029765T>C	uc004bdz.1	-	4	816	c.521A>G	c.(520-522)GAG>GGG	p.E174G	EPB41L4B_uc004bea.2_Missense_Mutation_p.E174G	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112225670	112225670	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112225670T>C	uc004bed.2	-	2	157	c.45A>G	c.(43-45)ATA>ATG	p.I15M	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.I15M|PTPN3_uc011lwh.1_Translation_Start_Site|PTPN3_uc004bee.3_Missense_Mutation_p.I15M	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	15					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898690	112898690	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112898690A>T	uc004bei.2	+	9	1754	c.1562A>T	c.(1561-1563)GAG>GTG	p.E521V	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E99V|AKAP2_uc011lwi.1_Missense_Mutation_p.E147V|AKAP2_uc004bem.2_Missense_Mutation_p.E147V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E107V|AKAP2_uc011lwj.1_Missense_Mutation_p.E58V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E58V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	58							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113169574	113169574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113169574C>T	uc010mtz.2	-	38	8643	c.8306G>A	c.(8305-8307)CGC>CAC	p.R2769H	SVEP1_uc010mty.2_Missense_Mutation_p.R695H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2769	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
LPAR1	1902	broad.mit.edu	37	9	113637717	113637717	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113637717T>A	uc004bfa.2	-	5	1334	c.1079A>T	c.(1078-1080)GAC>GTC	p.D360V	LPAR1_uc011lwm.1_Missense_Mutation_p.D361V|LPAR1_uc004bfb.2_Missense_Mutation_p.D360V|LPAR1_uc004bfc.2_Missense_Mutation_p.D360V|LPAR1_uc011lwn.1_Missense_Mutation_p.D342V|LPAR1_uc011lwo.1_Missense_Mutation_p.D361V|LPAR1_uc010mub.2_Missense_Mutation_p.D360V	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	360	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2																		---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114134086	114134086	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114134086A>T	uc004bfe.1	-	44	5086	c.5086T>A	c.(5086-5088)TAC>AAC	p.Y1696N		NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114305075	114305075	+	Silent	SNP	G	A	A	rs142830150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114305075G>A	uc004bff.2	+	6	2084	c.1860G>A	c.(1858-1860)ACG>ACA	p.T620T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	620	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1																		---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114337052	114337052	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114337052G>A	uc004bfh.2	-	8	825	c.722C>T	c.(721-723)GCC>GTC	p.A241V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.A241V|PTGR1_uc004bfi.3_Missense_Mutation_p.A241V|PTGR1_uc004bfj.3_Missense_Mutation_p.A118V|PTGR1_uc010mue.2_Missense_Mutation_p.A241V	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	241	NADP.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114456540	114456540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114456540T>C	uc004bfr.2	-	23	3229	c.3094A>G	c.(3094-3096)AAA>GAA	p.K1032E	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K993E|C9orf84_uc010mug.2_Missense_Mutation_p.K943E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1032										ovary(2)	2																		---	---	---	---
HSDL2	84263	broad.mit.edu	37	9	115166290	115166290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115166290T>C	uc004bga.1	+	2	126	c.33T>C	c.(31-33)TGT>TGC	p.C11C	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Silent_p.C11C|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	11						peroxisome	oxidoreductase activity|sterol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115600867	115600867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115600867T>A	uc004bgj.3	+	6	1052	c.904T>A	c.(904-906)TCA>ACA	p.S302T	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	302					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115626531	115626531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115626531C>A	uc004bgj.3	+	8	1254	c.1106C>A	c.(1105-1107)CCG>CAG	p.P369Q	SNX30_uc004bgi.3_Missense_Mutation_p.P51Q	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	369					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115931875	115931875	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115931875T>C	uc004bgs.2	-	26	3232	c.3114A>G	c.(3112-3114)CTA>CTG	p.L1038L	FKBP15_uc004bgr.2_Silent_p.L475L|FKBP15_uc011lxc.1_Silent_p.L619L|FKBP15_uc011lxd.1_Silent_p.L970L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1038					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115936846	115936846	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115936846T>C	uc004bgs.2	-	22	2359	c.2241A>G	c.(2239-2241)AAA>AAG	p.K747K	FKBP15_uc004bgr.2_Silent_p.K184K|FKBP15_uc011lxc.1_Silent_p.K328K|FKBP15_uc011lxd.1_Silent_p.K679K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	747	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115950662	115950662	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115950662T>A	uc004bgs.2	-						FKBP15_uc010muu.1_Intron|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Intron|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Intron	NM_015258	NP_056073			FK506 binding protein 15, 133kDa						endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116049018	116049018	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116049018A>G	uc004bgx.2	+	9	895	c.845A>G	c.(844-846)CAT>CGT	p.H282R	PRPF4_uc004bgy.2_Missense_Mutation_p.H281R	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	282	WD 2.			NVGAIVFH -> KKEQLHSI (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ALAD	210	broad.mit.edu	37	9	116151752	116151752	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116151752G>T	uc011lxf.1	-	10	969	c.767C>A	c.(766-768)CCC>CAC	p.P256H	ALAD_uc011lxe.1_Missense_Mutation_p.P239H|ALAD_uc004bhl.3_Missense_Mutation_p.P285H	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	256					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)													---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116359109	116359109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116359109G>A	uc004bhq.2	+	26	3682	c.3473G>A	c.(3472-3474)GGC>GAC	p.G1158D	RGS3_uc004bhs.2_Missense_Mutation_p.G1048D|RGS3_uc004bht.2_Missense_Mutation_p.G877D|RGS3_uc010muy.2_Missense_Mutation_p.G551D|RGS3_uc004bhv.2_Missense_Mutation_p.G479D|RGS3_uc004bhw.2_Missense_Mutation_p.G128D|RGS3_uc011lxh.1_Missense_Mutation_p.G468D|RGS3_uc004bhx.2_Missense_Mutation_p.G479D|RGS3_uc004bhz.2_Missense_Mutation_p.G500D|RGS3_uc004bia.2_Missense_Mutation_p.G271D	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1158	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119414057	119414057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119414057C>T	uc004bjs.1	-	17	2923	c.2822G>A	c.(2821-2823)GGC>GAC	p.G941D	ASTN2_uc004bjr.1_Missense_Mutation_p.G937D|ASTN2_uc004bjt.1_Missense_Mutation_p.G890D|ASTN2_uc004bjp.1_Missense_Mutation_p.G34D|ASTN2_uc004bjq.1_5'UTR|ASTN2_uc011lxr.1_5'UTR|ASTN2_uc011lxs.1_5'UTR|ASTN2_uc011lxt.1_5'UTR|ASTN2_uc004bjv.1_5'UTR	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	941	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119460783	119460783	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119460783G>A	uc004bjx.2	+	2	920	c.762G>A	c.(760-762)CTG>CTA	p.L254L	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L254L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	254					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3														Bardet-Biedl_syndrome				---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119488179	119488179	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119488179G>T	uc004bjs.1	-	16	2778	c.2677C>A	c.(2677-2679)CTG>ATG	p.L893M	ASTN2_uc004bjr.1_Missense_Mutation_p.L889M|ASTN2_uc004bjt.1_Missense_Mutation_p.L842M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	893	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119582989	119582989	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119582989T>C	uc004bjs.1	-	12	2215	c.2114A>G	c.(2113-2115)GAT>GGT	p.D705G	ASTN2_uc004bjr.1_Missense_Mutation_p.D701G|ASTN2_uc004bjt.1_Missense_Mutation_p.D654G	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	705	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476261	120476261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120476261C>T	uc004bjz.2	+	3	2146	c.1855C>T	c.(1855-1857)CCT>TCT	p.P619S	TLR4_uc004bka.2_Missense_Mutation_p.P579S|TLR4_uc004bkb.2_Missense_Mutation_p.P419S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	619	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---
DBC1	1620	broad.mit.edu	37	9	121971132	121971132	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:121971132T>C	uc004bkc.2	-	7	1466	c.1010A>G	c.(1009-1011)GAC>GGC	p.D337G		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	337					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123210340	123210340	+	Missense_Mutation	SNP	C	T	T	rs149193447	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123210340C>T	uc004bkf.2	-	22	3039	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R3H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R238H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R953H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R218H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R723H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R720H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	953	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123253685	123253685	+	Missense_Mutation	SNP	T	C	C	rs140513883		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123253685T>C	uc004bkf.2	-	13	1563	c.1382A>G	c.(1381-1383)TAC>TGC	p.Y461C	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y461C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y461C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y260C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	461					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
C5	727	broad.mit.edu	37	9	123776296	123776296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123776296G>A	uc004bkv.2	-	17	2142	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	C5_uc010mvm.1_Silent_p.C704C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	704	Anaphylatoxin-like.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
C5	727	broad.mit.edu	37	9	123782388	123782388	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123782388A>T	uc004bkv.2	-	12	1402	c.1372T>A	c.(1372-1374)TCA>ACA	p.S458T	C5_uc010mvm.1_Missense_Mutation_p.S458T|C5_uc010mvn.1_Missense_Mutation_p.S458T	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	458					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
CEP110	11064	broad.mit.edu	37	9	123920323	123920323	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123920323T>A	uc004bkx.1	+	28	4731	c.4700T>A	c.(4699-4701)GTC>GAC	p.V1567D	CEP110_uc010mvo.1_Missense_Mutation_p.V236D|CEP110_uc004blb.1_Missense_Mutation_p.V236D|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1567	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0																		---	---	---	---
GSN	2934	broad.mit.edu	37	9	124081025	124081025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124081025G>A	uc004blf.1	+	9	1272	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	GSN_uc004bld.1_Missense_Mutation_p.G353D|GSN_uc010mvq.1_Missense_Mutation_p.G364D|GSN_uc010mvr.1_Missense_Mutation_p.G364D|GSN_uc010mvu.1_Missense_Mutation_p.G353D|GSN_uc010mvt.1_Missense_Mutation_p.G353D|GSN_uc010mvs.1_Missense_Mutation_p.G353D|GSN_uc004ble.1_Missense_Mutation_p.G353D|GSN_uc010mvv.1_Missense_Mutation_p.G353D|GSN_uc011lyh.1_Missense_Mutation_p.G370D|GSN_uc011lyi.1_Missense_Mutation_p.G353D|GSN_uc011lyj.1_Missense_Mutation_p.G377D|GSN_uc004blg.1_Missense_Mutation_p.G135D	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	404					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3																		---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124535066	124535066	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124535066C>T	uc004bln.2	+	12	2244	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DAB2IP_uc004blo.2_Silent_p.D629D|DAB2IP_uc004blp.2_Silent_p.D158D	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	753					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TTLL11	158135	broad.mit.edu	37	9	124751392	124751392	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124751392T>G	uc004blt.1	-	4					TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228			tubulin tyrosine ligase-like family, member 11						protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0																		---	---	---	---
NDUFA8	4702	broad.mit.edu	37	9	124906577	124906577	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124906577G>A	uc004blv.2	-	4	604	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	154					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)													---	---	---	---
RBM18	92400	broad.mit.edu	37	9	125009820	125009820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125009820G>A	uc004bma.2	-	4	470	c.304C>T	c.(304-306)CGA>TGA	p.R102*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	102	RRM.						nucleotide binding|RNA binding				0																		---	---	---	---
OR1L8	138881	broad.mit.edu	37	9	125330036	125330036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125330036T>C	uc004bmp.1	-	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551853	125551853	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551853G>A	uc011lzd.1	+	1	642	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551886	125551886	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551886C>T	uc011lzd.1	+	1	675	c.675C>T	c.(673-675)ATC>ATT	p.I225I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125562695	125562695	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125562695C>G	uc011lze.1	+	1	294	c.294C>G	c.(292-294)TGC>TGG	p.C98W		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125617543	125617543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125617543G>A	uc010mwc.1	-	15	2976	c.2735C>T	c.(2734-2736)TCC>TTC	p.S912F	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S912F|RC3H2_uc004bne.3_Missense_Mutation_p.S912F	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	912						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4																		---	---	---	---
ZBTB6	10773	broad.mit.edu	37	9	125673310	125673310	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125673310G>T	uc004bnh.2	-	2	1131	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	348	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125759568	125759568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125759568T>C	uc011lzh.1	+	9	1266	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	378					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125836696	125836696	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125836696C>T	uc011lzh.1	+	17	2376	c.2242C>T	c.(2242-2244)CTT>TTT	p.L748F	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.L87F	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	748	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144873	126144873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126144873C>T	uc004bnz.1	-	22	2101	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	DENND1A_uc011lzl.1_Missense_Mutation_p.R441H|DENND1A_uc004bny.1_Missense_Mutation_p.R405H|DENND1A_uc011lzm.1_Missense_Mutation_p.R634H|DENND1A_uc010mwh.1_Missense_Mutation_p.R44H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126214597	126214597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126214597T>C	uc004bnz.1	-	17	1490	c.1257A>G	c.(1255-1257)GTA>GTG	p.V419V	DENND1A_uc011lzl.1_Silent_p.V194V|DENND1A_uc004bny.1_Silent_p.V158V|DENND1A_uc011lzm.1_Silent_p.V387V|DENND1A_uc004boa.1_Silent_p.V419V|DENND1A_uc004bob.1_Silent_p.V389V|DENND1A_uc004boc.2_Silent_p.V387V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	419						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
NEK6	10783	broad.mit.edu	37	9	127110081	127110081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127110081G>A	uc004bog.2	+	9	960	c.811G>A	c.(811-813)GGG>AGG	p.G271R	NEK6_uc004bof.2_Missense_Mutation_p.G289R|NEK6_uc004boh.2_Missense_Mutation_p.G305R|NEK6_uc010mwj.2_Missense_Mutation_p.G224R|NEK6_uc010mwk.2_Missense_Mutation_p.G271R|NEK6_uc004boi.2_Missense_Mutation_p.G271R	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	271	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3																		---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127298343	127298343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127298343T>C	uc004bor.1	-	7	1071	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	NR6A1_uc004boq.1_Missense_Mutation_p.Q293R|NR6A1_uc010mwq.1_Missense_Mutation_p.Q294R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	298					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127316748	127316748	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127316748C>A	uc004bor.1	-	3	422	c.244G>T	c.(244-246)GGG>TGG	p.G82W	NR6A1_uc004boq.1_Missense_Mutation_p.G78W|NR6A1_uc010mwq.1_Missense_Mutation_p.G78W	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	82	Nuclear receptor.				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127996243	127996243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127996243T>G	uc004bpi.2	+	9	1276	c.1103T>G	c.(1102-1104)GTG>GGG	p.V368G	RABEPK_uc004bpj.2_Missense_Mutation_p.V317G|RABEPK_uc004bpk.2_Missense_Mutation_p.V368G|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.V368G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	368					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128067331	128067331	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128067331T>C	uc010mwx.2	+						GAPVD1_uc004bpo.2_Intron|GAPVD1_uc011lzs.1_Intron|GAPVD1_uc004bpp.2_Intron|GAPVD1_uc004bpq.2_Intron|GAPVD1_uc004bpr.2_Intron|GAPVD1_uc004bps.2_Intron|GAPVD1_uc010mwy.1_Intron	NM_015635	NP_056450			GTPase activating protein and VPS9 domains 1						endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128099736	128099736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128099736G>A	uc010mwx.2	+	17	3069	c.2743G>A	c.(2743-2745)GAC>AAC	p.D915N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D915N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D942N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D915N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D894N|GAPVD1_uc004bps.2_Missense_Mutation_p.D915N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D748N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	915					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128111746	128111746	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128111746C>A	uc010mwx.2	+	21	3627	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	GAPVD1_uc004bpp.2_Missense_Mutation_p.P1110T|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1083T|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1062T|GAPVD1_uc004bps.2_Missense_Mutation_p.P1056T|GAPVD1_uc004bpt.2_Missense_Mutation_p.P116T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1101					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128347881	128347881	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128347881C>T	uc004bpv.2	-	5	957	c.624G>A	c.(622-624)GGG>GGA	p.G208G	MAPKAP1_uc011lzt.1_Silent_p.G11G|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.G11G|MAPKAP1_uc011lzv.1_Silent_p.G11G|MAPKAP1_uc004bpw.2_Silent_p.G16G|MAPKAP1_uc004bpx.2_Silent_p.G16G|MAPKAP1_uc004bpy.2_Silent_p.G208G|MAPKAP1_uc004bpz.2_Silent_p.G208G|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.G11G|MAPKAP1_uc004bqa.2_Silent_p.G208G|MAPKAP1_uc010mxc.1_Silent_p.G80G	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	208					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4																		---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129458638C>A	uc004bqj.2	+	8	1098	c.1048C>A	c.(1048-1050)CTC>ATC	p.L350I	LMX1B_uc004bqi.2_Missense_Mutation_p.L343I|LMX1B_uc011maa.1_Missense_Mutation_p.L354I	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														Nail-Patella_Syndrome				---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129740006	129740006	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129740006T>C	uc004bqo.1	+	4	465	c.198T>C	c.(196-198)TTT>TTC	p.F66F	RALGPS1_uc011mab.1_Silent_p.F66F|RALGPS1_uc011mac.1_Silent_p.F66F|RALGPS1_uc004bqq.3_Silent_p.F66F	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	66	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130073930	130073930	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130073930C>T	uc011mae.1	+	3	636	c.235C>T	c.(235-237)CCT>TCT	p.P79S	GARNL3_uc011mad.1_Missense_Mutation_p.P57S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	79					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130083001	130083001	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130083001A>G	uc011mae.1	+	6	912	c.511A>G	c.(511-513)AAT>GAT	p.N171D	GARNL3_uc011mad.1_Missense_Mutation_p.N149D	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	171					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
RPL12	6136	broad.mit.edu	37	9	130210270	130210270	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130210270T>C	uc004bqy.1	-	6	468	c.380_splice	c.e6-1	p.G127_splice	RPL12_uc004bqx.1_Splice_Site|RPL12_uc004bqz.1_Splice_Site_p.G94_splice	NM_000976	NP_000967			ribosomal protein L12						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130219605	130219605	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130219605T>A	uc004brb.1	+	6	530	c.185T>A	c.(184-186)GTC>GAC	p.V62D	LRSAM1_uc010mxk.1_Missense_Mutation_p.V62D|LRSAM1_uc004brc.1_Missense_Mutation_p.V62D|LRSAM1_uc004brd.1_Missense_Mutation_p.V62D	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	62	LRR 2.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130265165	130265165	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130265165A>G	uc004brb.1	+	26	2504	c.2159A>G	c.(2158-2160)TAC>TGC	p.Y720C	LRSAM1_uc010mxk.1_Missense_Mutation_p.Y693C|LRSAM1_uc004brc.1_Missense_Mutation_p.Y720C|LRSAM1_uc004brd.1_Missense_Mutation_p.Y720C|LRSAM1_uc004bre.1_Missense_Mutation_p.Y300C|LRSAM1_uc004brg.1_Missense_Mutation_p.Y151C	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	720					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
PTRH1	138428	broad.mit.edu	37	9	130476504	130476504	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130476504C>A	uc004bro.2	-	5	538	c.520G>T	c.(520-522)GCC>TCC	p.A174S	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Missense_Mutation_p.R171S|PTRH1_uc011mah.1_Missense_Mutation_p.A187S|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	174					translation		aminoacyl-tRNA hydrolase activity|protein binding				0																		---	---	---	---
CDK9	1025	broad.mit.edu	37	9	130550553	130550553	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130550553C>A	uc004bse.2	+	5	616	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	165	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1																		---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131107478	131107478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131107478G>A	uc004but.2	+	3	490	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	69					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0																		---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131262534	131262534	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131262534A>T	uc011mbd.1	+	21	2801	c.2490A>T	c.(2488-2490)TGA>TGT	p.*830C	ODF2_uc004bvb.2_Nonstop_Mutation_p.*806C|ODF2_uc011mbe.1_Nonstop_Mutation_p.*825C|ODF2_uc004bvc.2_Nonstop_Mutation_p.*806C|ODF2_uc004bvd.3_Nonstop_Mutation_p.*830C|ODF2_uc004bvh.2_Nonstop_Mutation_p.*236C	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	830					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131337514	131337514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131337514C>A	uc004bvl.3	+	5	654	c.541C>A	c.(541-543)CTG>ATG	p.L181M	SPTAN1_uc011mbg.1_Missense_Mutation_p.L181M|SPTAN1_uc011mbh.1_Missense_Mutation_p.L193M|SPTAN1_uc004bvm.3_Missense_Mutation_p.L181M|SPTAN1_uc004bvn.3_Missense_Mutation_p.L181M	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	181	Spectrin 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131387430	131387430	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131387430C>A	uc004bvl.3	+	46	6139	c.6026C>A	c.(6025-6027)TCT>TAT	p.S2009Y	SPTAN1_uc004bvm.3_Missense_Mutation_p.S2014Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1989Y|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2009	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131399212	131399212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131399212G>A	uc004bvq.1	-	3	654	c.530C>T	c.(529-531)GCC>GTC	p.A177V	WDR34_uc004bvs.1_Missense_Mutation_p.A168V|WDR34_uc004bvr.1_Missense_Mutation_p.A177V|WDR34_uc011mbi.1_Missense_Mutation_p.A60V	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	177						cytoplasm				central_nervous_system(2)|skin(1)	3																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131559484	131559484	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131559484G>T	uc010myj.2	+	7	657	c.534G>T	c.(532-534)GGG>GGT	p.G178G	TBC1D13_uc010myk.2_Silent_p.G178G|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	178	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0																		---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131591016	131591016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131591016C>T	uc004bwd.2	-	3	232	c.206G>A	c.(205-207)CGC>CAC	p.R69H	C9orf114_uc004bwe.2_Missense_Mutation_p.R69H|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	69											0																		---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670363	131670363	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131670363C>T	uc004bwl.3	+	3	1174	c.920C>T	c.(919-921)ACC>ATC	p.T307I	LRRC8A_uc010myp.2_Missense_Mutation_p.T307I|LRRC8A_uc010myq.2_Missense_Mutation_p.T307I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	307					pre-B cell differentiation	integral to membrane					0																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131741566	131741566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131741566T>C	uc004bws.1	+	13	1251	c.1229T>C	c.(1228-1230)GTA>GCA	p.V410A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131755596	131755596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131755596T>C	uc004bws.1	+	26	2783	c.2761T>C	c.(2761-2763)TTC>CTC	p.F921L	NUP188_uc004bwu.2_Missense_Mutation_p.F264L	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	921					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131862874	131862874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131862874G>A	uc004bxh.2	-	7	1182	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	CRAT_uc004bxg.2_Silent_p.Y279Y|CRAT_uc004bxk.3_Silent_p.Y279Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	300					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)													---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131890312	131890312	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131890312C>G	uc004bxm.1	+	4	553	c.286C>G	c.(286-288)CCA>GCA	p.P96A	PPP2R4_uc004bxl.1_Intron|PPP2R4_uc011mbo.1_Missense_Mutation_p.P96A|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	96					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131897123	131897123	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131897123G>T	uc004bxm.1	+	7	882	c.615G>T	c.(613-615)GGG>GGT	p.G205G	PPP2R4_uc004bxl.1_Silent_p.G170G|PPP2R4_uc011mbo.1_Silent_p.G205G|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.G170G|PPP2R4_uc004bxo.1_Silent_p.G128G|PPP2R4_uc011mbp.1_Silent_p.G141G|PPP2R4_uc011mbq.1_Silent_p.G128G|PPP2R4_uc010mys.1_Silent_p.G135G	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	205					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
C9orf106	414318	broad.mit.edu	37	9	132084570	132084570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132084570G>A	uc004bxs.2	+	2	531	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	hypothetical protein LOC414318	160											0		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)																---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132400113	132400113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132400113A>G	uc004byf.1	-	6	1388	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	ASB6_uc004bye.1_Missense_Mutation_p.Y333H|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.Y329H|ASB6_uc010myx.1_Missense_Mutation_p.Y379H	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	408	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)																---	---	---	---
PRRX2	51450	broad.mit.edu	37	9	132482979	132482979	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132482979C>T	uc004byh.2	+	3	779	c.552C>T	c.(550-552)ATC>ATT	p.I184I		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	184						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)																---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132569491	132569491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132569491G>A	uc004byk.1	+	3	550	c.490G>A	c.(490-492)GGT>AGT	p.G164S		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	164					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)																---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133511486	133511486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133511486G>A	uc004bzr.1	+	18	1791	c.1683G>A	c.(1681-1683)ACG>ACA	p.T561T	FUBP3_uc004bzs.1_Silent_p.T450T	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)														---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901837	133901837	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133901837G>A	uc004caa.1	+	2	637	c.539G>A	c.(538-540)CGC>CAC	p.R180H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	180	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)														---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134305536	134305536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134305536C>T	uc004can.3	+	1	60	c.5C>T	c.(4-6)TCC>TTC	p.S2F	BAT2L1_uc004cam.1_Missense_Mutation_p.S2F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	2							protein binding				0																		---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134351905	134351905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134351905G>A	uc004can.3	+	15	4444	c.4389G>A	c.(4387-4389)ACG>ACA	p.T1463T	BAT2L1_uc010mzj.1_Silent_p.T1046T|BAT2L1_uc004cao.3_Silent_p.T821T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1463							protein binding				0																		---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134465325	134465325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134465325G>A	uc004cbc.2	-	16	2387	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R771C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	753	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---
MED27	9442	broad.mit.edu	37	9	134814871	134814871	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134814871A>G	uc004cbe.1	-						MED27_uc004cbf.1_Intron|MED27_uc011mco.1_Intron|MED27_uc004cbg.3_Intron	NM_004269	NP_004260			mediator complex subunit 27						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)														---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135116397	135116397	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135116397C>T	uc004cbh.2	+	7	2099	c.1323C>T	c.(1321-1323)TGC>TGT	p.C441C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	441	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
SETX	23064	broad.mit.edu	37	9	135204906	135204906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135204906A>G	uc004cbk.2	-	10	2262	c.2079T>C	c.(2077-2079)AGT>AGC	p.S693S	SETX_uc004cbj.2_Silent_p.S312S|SETX_uc010mzt.2_Silent_p.S312S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	693					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135275582	135275582	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135275582T>A	uc004cbl.2	-	3	1483	c.1431A>T	c.(1429-1431)TTA>TTT	p.L477F	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_5'UTR	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	477					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)														---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135462883	135462883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135462883G>A	uc004cbp.1	+	2	826	c.634G>A	c.(634-636)GCC>ACC	p.A212T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)														---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554007	135554007	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135554007G>T	uc010mzv.2	+	2	1259	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	334					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)														---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135772974	135772974	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135772974G>T	uc004cca.2	-	21	2883	c.2649C>A	c.(2647-2649)GCC>GCA	p.A883A	TSC1_uc004ccb.3_Silent_p.A882A|TSC1_uc011mcq.1_Silent_p.A832A|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	883	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135786003	135786003	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135786003G>A	uc004cca.2	-	12	1452	c.1218C>T	c.(1216-1218)TAC>TAT	p.Y406Y	TSC1_uc004ccb.3_Silent_p.Y405Y|TSC1_uc011mcq.1_Silent_p.Y355Y|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.Y285Y|TSC1_uc004ccc.1_Silent_p.Y406Y	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	406					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135865239	135865239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135865239C>T	uc004ccg.2	+	6	910	c.759C>T	c.(757-759)TGC>TGT	p.C253C	GFI1B_uc010mzy.2_Silent_p.C207C	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	253	Mediates interaction with GATA1.|C2H2-type 4.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)														---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135932181	135932181	+	Missense_Mutation	SNP	G	A	A	rs144801827	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135932181G>A	uc004cci.3	+	10	1616	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	GTF3C5_uc004ccj.3_Missense_Mutation_p.G434R	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	427						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)														---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941940	135941940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135941940C>T	uc010naa.1	+	5	587	c.571C>T	c.(571-573)CAC>TAC	p.H191Y		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	188					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)														---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136198743	136198743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136198743T>C	uc004cdb.3	-	5	1126	c.1048A>G	c.(1048-1050)ATC>GTC	p.I350V		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	350						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136402566	136402566	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136402566G>A	uc011mdl.1	+	3	687	c.130G>A	c.(130-132)GAC>AAC	p.D44N	ADAMTSL2_uc004cei.2_Missense_Mutation_p.D44N	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	44					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136412226	136412226	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136412226T>C	uc011mdl.1	+	9	1387	c.830T>C	c.(829-831)TTC>TCC	p.F277S	ADAMTSL2_uc004cei.2_Missense_Mutation_p.F277S	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	277					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136529132	136529132	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136529132G>A	uc004cep.3	-	21	2770	c.2636C>T	c.(2635-2637)TCG>TTG	p.S879L	SARDH_uc004ceo.2_Missense_Mutation_p.S879L|SARDH_uc011mdn.1_Missense_Mutation_p.S879L|SARDH_uc011mdo.1_Missense_Mutation_p.S711L|SARDH_uc004cen.2_Missense_Mutation_p.S329L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	879					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136555518	136555518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136555518T>C	uc004cep.3	-	16	2187	c.2053A>G	c.(2053-2055)ATC>GTC	p.I685V	SARDH_uc004ceo.2_Missense_Mutation_p.I685V|SARDH_uc011mdn.1_Missense_Mutation_p.I685V|SARDH_uc011mdo.1_Missense_Mutation_p.I517V|SARDH_uc004cen.2_Missense_Mutation_p.I113V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	685					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136650998	136650998	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136650998C>T	uc004ces.2	-	17	1478	c.1432G>A	c.(1432-1434)GGC>AGC	p.G478S	VAV2_uc004cer.2_Missense_Mutation_p.G468S|VAV2_uc004cet.1_Missense_Mutation_p.G17S	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	478	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136656961	136656961	+	Missense_Mutation	SNP	G	A	A	rs142018797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136656961G>A	uc004ces.2	-	13	1178	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	VAV2_uc004cer.2_Missense_Mutation_p.R373W|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662845	136662845	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136662845C>T	uc004ces.2	-	10	969	c.923G>A	c.(922-924)AGG>AAG	p.R308K	VAV2_uc004cer.2_Missense_Mutation_p.R303K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	308	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136901428	136901428	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136901428G>A	uc004cew.2	-	10	1850	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	554	Lys-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136918499	136918499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136918499C>T	uc004cew.2	-	2	289	c.101G>A	c.(100-102)CGC>CAC	p.R34H	BRD3_uc004cex.2_Missense_Mutation_p.R34H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	34						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137591897	137591897	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137658311	137658311	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137658311T>C	uc004cfe.2	+	22	2482	c.2100T>C	c.(2098-2100)GGT>GGC	p.G700G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	700	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137702161	137702161	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137702161A>G	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
KIAA0649	9858	broad.mit.edu	37	9	138377887	138377887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138377887C>T	uc004cfr.1	+	4	2080	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	511						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)														---	---	---	---
LCN1	3933	broad.mit.edu	37	9	138413364	138413364	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138413364C>T	uc004cfz.1	+	1	79	c.21C>T	c.(19-21)GCC>GCT	p.A7A	LCN1_uc004cga.1_Silent_p.A7A	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	7					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)														---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138588662	138588662	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138588662C>T	uc004cgl.2	-						SOHLH1_uc010nbe.2_Intron	NM_001012415	NP_001012415			spermatogenesis and oogenesis specific basic						cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)														---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138594154	138594154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138594154C>T	uc011mdq.1	+	1	124	c.50C>T	c.(49-51)GCG>GTG	p.A17V	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.A17V|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	17						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713275	138713275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713275G>A	uc004cgr.3	-	11	3232	c.3232C>T	c.(3232-3234)CCA>TCA	p.P1078S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P968S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P800S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1078						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713714	138713714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713714C>T	uc004cgr.3	-	11	2793	c.2793G>A	c.(2791-2793)AGG>AGA	p.R931R	CAMSAP1_uc004cgq.3_Silent_p.R821R|CAMSAP1_uc010nbg.2_Silent_p.R653R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	931						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139306576	139306576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139306576A>G	uc004chl.2	+	2	204	c.199A>G	c.(199-201)ACC>GCC	p.T67A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.T67A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	67					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)														---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139326422	139326422	+	Missense_Mutation	SNP	C	T	T	rs112089228		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139326422C>T	uc004cho.2	-	7	1788	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	INPP5E_uc010nbm.2_Missense_Mutation_p.R467H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	468						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)														---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401094	139401094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139401094A>G	uc004chz.2	-						NOTCH1_uc004cia.1_Intron	NM_017617	NP_060087			notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413179	139413179	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139413179G>A	uc004chz.2	-	6	963	c.963C>T	c.(961-963)TGC>TGT	p.C321C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	321	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
LCN10	414332	broad.mit.edu	37	9	139635324	139635324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139635324G>A	uc010nbq.2	-	3	459	c.400C>T	c.(400-402)CGT>TGT	p.R134C	LCN10_uc004civ.2_Missense_Mutation_p.R147C|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	134					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)														---	---	---	---
EDF1	8721	broad.mit.edu	37	9	139757745	139757745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139757745C>T	uc004cjt.1	-	3	314	c.286G>A	c.(286-288)GCC>ACC	p.A96T	EDF1_uc004cju.1_Missense_Mutation_p.A96T	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	96	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|H-T-H motif (Potential).				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847450	139847450	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139847450G>A	uc004ckb.2	+	2	233	c.221G>A	c.(220-222)GGC>GAC	p.G74D	LCN12_uc004ckc.2_Missense_Mutation_p.G74D	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	lipocalcin 12 precursor	74					lipid metabolic process	extracellular region	binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)														---	---	---	---
FUT7	2529	broad.mit.edu	37	9	139925299	139925299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139925299A>G	uc004ckq.2	-	2	1741	c.892T>C	c.(892-894)TTC>CTC	p.F298L	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	298	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)														---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140055611	140055611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140055611T>C	uc004clk.2	+	9	1631	c.1301T>C	c.(1300-1302)GTG>GCG	p.V434A	GRIN1_uc004cli.1_Missense_Mutation_p.V109A|GRIN1_uc004clj.1_Missense_Mutation_p.V431A|GRIN1_uc004cll.2_Missense_Mutation_p.V434A|GRIN1_uc004clm.2_Missense_Mutation_p.V434A|GRIN1_uc004cln.2_Missense_Mutation_p.V452A|GRIN1_uc004clo.2_Missense_Mutation_p.V452A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	434	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)													---	---	---	---
ANAPC2	29882	broad.mit.edu	37	9	140082263	140082263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140082263C>T	uc004clr.1	-	2	483	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.R137H|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140127157	140127157	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140127157T>C	uc004cmf.1	+	4	490	c.304_splice	c.e4+2	p.S102_splice	SLC34A3_uc004cmc.1_Splice_Site|SLC34A3_uc004cmd.1_Splice_Site_p.S102_splice|SLC34A3_uc011met.1_Splice_Site_p.S102_splice	NM_080877	NP_543153			solute carrier family 34 (sodium phosphate),						cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)														---	---	---	---
NELF	26012	broad.mit.edu	37	9	140347525	140347525	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140347525C>T	uc004cna.2	-	9	1262	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.V141M|NELF_uc010nci.2_Missense_Mutation_p.V88M|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.V321M|NELF_uc004cmz.2_Missense_Mutation_p.V342M|NELF_uc004cnc.2_Missense_Mutation_p.V319M|NELF_uc004cnb.2_Missense_Mutation_p.V314M	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	344						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140476996C>T	uc004cno.1	-	6	905	c.683G>A	c.(682-684)TGA>TAA	p.*228*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	228						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140477035	140477035	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140477035C>T	uc004cno.1	-	6	866	c.644G>A	c.(643-645)AGG>AAG	p.R215K		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	215						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140507931	140507931	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140507931G>A	uc004cns.2	+	3	323	c.249G>A	c.(247-249)GAG>GAA	p.E83E	ARRDC1_uc004cnt.2_5'UTR|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.E46E|ARRDC1_uc004cnw.2_5'UTR|ARRDC1_uc004cnp.1_Silent_p.E83E|ARRDC1_uc004cnq.1_Silent_p.E83E|ARRDC1_uc011mfb.1_5'UTR|ARRDC1_uc004cnx.1_5'UTR|ARRDC1_uc004cny.2_5'Flank	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	83											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509383	140509383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140509383G>A	uc004cns.2	+	7	1242	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	ARRDC1_uc004cnt.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.G370R|ARRDC1_uc004cnw.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnp.1_Missense_Mutation_p.G390R|ARRDC1_uc004cnq.1_Missense_Mutation_p.G372R|ARRDC1_uc011mfb.1_Missense_Mutation_p.G265R|ARRDC1_uc004cnx.1_Missense_Mutation_p.G265R|ARRDC1_uc004cny.2_Intron	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	390	Pro-rich.										0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140671153	140671153	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140671153C>T	uc011mfc.1	+	12	1912	c.1875C>T	c.(1873-1875)AGC>AGT	p.S625S	EHMT1_uc004coa.2_Silent_p.S625S|EHMT1_uc004cob.1_Silent_p.S594S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	625					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)														---	---	---	---
MIR602	693187	broad.mit.edu	37	9	140732894	140732894	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140732894C>T	hsa-mir-602|MI0003615	+			c.24C>T																				0																		---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140948380	140948380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140948380C>T	uc004cog.2	+	26	4035	c.3890C>T	c.(3889-3891)GCC>GTC	p.A1297V	CACNA1B_uc011mfd.1_Missense_Mutation_p.A827V|CACNA1B_uc004coi.2_Missense_Mutation_p.A511V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1297	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140995577	140995577	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140995577T>C	uc004cog.2	+						CACNA1B_uc004coi.2_Intron|CACNA1B_uc004cok.1_Intron|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709			calcium channel, voltage-dependent, N type,						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	94047	94047	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94047A>G	uc001ifi.2	-	4	285	c.285T>C	c.(283-285)TGT>TGC	p.C95C	TUBB8_uc009xhe.2_Silent_p.C58C|TUBB8_uc010pzs.1_Silent_p.C23C	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	95					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)														---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	294540	294540	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:294540C>A	uc010pzt.1	+	13	1920	c.1492C>A	c.(1492-1494)CTG>ATG	p.L498M	ZMYND11_uc001ifk.2_Missense_Mutation_p.L497M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L498M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L443M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L413M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L444M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L498M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L444M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L481M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L372M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L350M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	458	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	410959	410959	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:410959A>T	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron|DIP2C_uc010pzz.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	445117	445117	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:445117C>A	uc001ifp.2	-	10	1282	c.1192G>T	c.(1192-1194)GCG>TCG	p.A398S	DIP2C_uc009xhj.1_Missense_Mutation_p.A94S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	398						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	468784	468784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:468784A>G	uc001ifp.2	-	5	674	c.584T>C	c.(583-585)GTC>GCC	p.V195A	DIP2C_uc009xhk.1_Missense_Mutation_p.S197P	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	195						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1779250	1779250	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1779250C>T	uc009xhq.2	-	1	469	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	32					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)														---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3151612	3151612	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)														---	---	---	---
KLF6	1316	broad.mit.edu	37	10	3822350	3822350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3822350G>A	uc001iha.2	-	3	1015	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.H208Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	250	C2H2-type 2.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)														---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435860	5435860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5435860C>T	uc001ihy.2	-	4	1001	c.961G>A	c.(961-963)GCC>ACC	p.A321T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A281T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1																		---	---	---	---
CALML5	51806	broad.mit.edu	37	10	5541029	5541029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5541029C>T	uc001iic.2	-	1	505	c.373G>A	c.(373-375)GAG>AAG	p.E125K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	125	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding				0																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5773004	5773004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5773004C>T	uc001iij.2	+	11	1667	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	348										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5798695	5798695	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5798695G>A	uc001iij.2	+	16	7351	c.6726G>A	c.(6724-6726)TTG>TTA	p.L2242L	C10orf18_uc001iik.2_Silent_p.L1086L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2242										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5828020	5828020	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5828020A>T	uc001iil.3	-						GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Intron	NM_001494	NP_001485			GDP dissociation inhibitor 2 isoform 1						protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409612	7409612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7409612G>A	uc009xio.1	-	4	526	c.435C>T	c.(433-435)GAC>GAT	p.D145D	SFMBT2_uc001ijn.1_Silent_p.D145D|SFMBT2_uc010qay.1_Silent_p.D145D|SFMBT2_uc001ijo.1_Silent_p.D145D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	145					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7608186	7608186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7608186A>G	uc001ijq.2	-	13	2413	c.2334T>C	c.(2332-2334)AGT>AGC	p.S778S	ITIH5_uc001ijp.2_Silent_p.S564S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	778					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618800	7618800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7618800C>T	uc001ijq.2	-	10	1673	c.1594G>A	c.(1594-1596)GCC>ACC	p.A532T	ITIH5_uc001ijp.2_Missense_Mutation_p.A318T|ITIH5_uc001ijr.1_Missense_Mutation_p.A532T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	532					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A532P(1)		ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7657973	7657973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7657973G>A	uc001ijq.2	-	7	990	c.911C>T	c.(910-912)GCT>GTT	p.A304V	ITIH5_uc001ijp.2_Missense_Mutation_p.A90V|ITIH5_uc001ijr.1_Missense_Mutation_p.A304V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	304	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7679259	7679259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7679259G>A	uc001ijq.2	-	5	663	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ITIH5_uc001ijr.1_Missense_Mutation_p.A195V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
KIN	22944	broad.mit.edu	37	10	7820934	7820934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7820934A>G	uc001ijt.2	-	5	473	c.425T>C	c.(424-426)ATA>ACA	p.I142T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.I142T|KIN_uc010qba.1_Missense_Mutation_p.I36T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	142					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100631	8100631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8100631G>A	uc001ika.2	+	3	1162	c.605G>A	c.(604-606)CGT>CAT	p.R202H	GATA3_uc001ijz.2_Missense_Mutation_p.R202H	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	202					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22								F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13224949	13224949	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13224949T>G	uc001ima.2	+	8	1051	c.950T>G	c.(949-951)ATA>AGA	p.I317R	MCM10_uc001imb.2_Missense_Mutation_p.I316R|MCM10_uc001imc.2_Missense_Mutation_p.I316R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	317					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13481460	13481460	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13481460C>T	uc001imm.2	-	9	1416	c.1119G>A	c.(1117-1119)GGG>GGA	p.G373G	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	424							protein binding			ovary(1)|breast(1)	2																		---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13804685	13804685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13804685A>T	uc001ims.2	-						FRMD4A_uc009xjf.1_Intron|FRMD4A_uc001imt.1_Intron|FRMD4A_uc001imu.1_Intron	NM_018027	NP_060497			FERM domain containing 4A							cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3																		---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14572484	14572484	+	5'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14572484T>A	uc001imx.1	-	2					FAM107B_uc001ina.1_Missense_Mutation_p.D167V|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_5'UTR|FAM107B_uc001imy.1_5'UTR|FAM107B_uc001imz.1_5'UTR	NM_031453	NP_113641			hypothetical protein LOC83641											breast(4)	4																		---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15210574	15210574	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15210574C>A	uc001inz.1	-	1	122	c.38G>T	c.(37-39)AGC>ATC	p.S13I	NMT2_uc001ioa.1_5'UTR|NMT2_uc009xjo.1_Missense_Mutation_p.S13I	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	13					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15256309	15256309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15256309G>A	uc001iob.2	-	8	1285	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	426	Cytoplasmic (Potential).					integral to membrane		p.S426R(1)		ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15883459	15883459	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15883459A>G	uc001iod.1	-	4	596	c.375T>C	c.(373-375)AGT>AGC	p.S125S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S125S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	125					apoptosis	nucleus	calcium ion binding			ovary(1)	1																		---	---	---	---
PTER	9317	broad.mit.edu	37	10	16528542	16528542	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16528542A>T	uc001iog.1	+	4	831	c.624A>T	c.(622-624)GCA>GCT	p.A208A	PTER_uc001ioh.1_Silent_p.A208A|PTER_uc001ioi.1_Silent_p.A208A|PTER_uc009xjp.1_Silent_p.A208A	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	208					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2																		---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16882941	16882941	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16882941T>C	uc001ioo.2	-	61	9821	c.9769A>G	c.(9769-9771)ATC>GTC	p.I3257V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3257	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
TRDMT1	1787	broad.mit.edu	37	10	17195517	17195517	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17195517G>A	uc001iop.2	-	10	1112	c.1064C>T	c.(1063-1065)CCT>CTT	p.P355L	TRDMT1_uc001ioq.2_Missense_Mutation_p.P331L|TRDMT1_uc001ior.2_Missense_Mutation_p.P309L|TRDMT1_uc001ios.2_Missense_Mutation_p.P284L|TRDMT1_uc009xjt.2_Missense_Mutation_p.P274L|TRDMT1_uc010qcc.1_Missense_Mutation_p.P284L|TRDMT1_uc010qcd.1_Missense_Mutation_p.P232L	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	355					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1																		---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17645651	17645651	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17645651A>T	uc001ipg.2	-						PTPLA_uc001iph.1_3'UTR	NM_014241	NP_055056			protein tyrosine phosphatase-like, member A						fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17865224	17865224	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17865224T>G	uc001ipk.2	+	2	316	c.213T>G	c.(211-213)TTT>TTG	p.F71L		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	71	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17891615	17891615	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17891615T>A	uc001ipk.2	+	7	1199	c.1096T>A	c.(1096-1098)TGG>AGG	p.W366R		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	366	Extracellular (Potential).				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18789845	18789845	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18789845A>G	uc001ipr.2	+	5	621	c.561A>G	c.(559-561)GAA>GAG	p.E187E	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.E187E|CACNB2_uc001ipt.2_Silent_p.E187E|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.E159E|CACNB2_uc001ipv.2_Silent_p.E159E|CACNB2_uc009xka.1_Silent_p.E159E|CACNB2_uc001ipw.2_Silent_p.E132E|CACNB2_uc001ipx.2_Silent_p.E132E|CACNB2_uc009xkb.1_Silent_p.E133E|CACNB2_uc010qcm.1_Silent_p.E133E|CACNB2_uc001ipz.2_Silent_p.E133E|CACNB2_uc001ipy.2_Silent_p.E133E|CACNB2_uc010qcn.1_Silent_p.E139E|CACNB2_uc010qco.1_Silent_p.E139E|CACNB2_uc001iqa.2_Silent_p.E139E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	187					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18825082	18825082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18825082A>G	uc001ipr.2	+	12	1319	c.1259A>G	c.(1258-1260)AAC>AGC	p.N420S	CACNB2_uc009xjz.1_Missense_Mutation_p.N170S|CACNB2_uc001ips.2_Missense_Mutation_p.N396S|CACNB2_uc001ipt.2_Missense_Mutation_p.N382S|CACNB2_uc001ipu.2_Missense_Mutation_p.N392S|CACNB2_uc001ipv.2_Missense_Mutation_p.N368S|CACNB2_uc009xka.1_Missense_Mutation_p.N354S|CACNB2_uc001ipw.2_Missense_Mutation_p.N327S|CACNB2_uc001ipx.2_Missense_Mutation_p.N365S|CACNB2_uc001ipz.2_Missense_Mutation_p.N342S|CACNB2_uc001ipy.2_Missense_Mutation_p.N366S|CACNB2_uc010qco.1_Missense_Mutation_p.N334S|CACNB2_uc001iqa.2_Missense_Mutation_p.N372S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	420					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18827115	18827115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18827115T>C	uc001ipr.2	+	13	1369	c.1309T>C	c.(1309-1311)TTC>CTC	p.F437L	CACNB2_uc009xjz.1_Missense_Mutation_p.F187L|CACNB2_uc001ips.2_Missense_Mutation_p.F413L|CACNB2_uc001ipt.2_Missense_Mutation_p.F399L|CACNB2_uc001ipu.2_Missense_Mutation_p.F409L|CACNB2_uc001ipv.2_Missense_Mutation_p.F385L|CACNB2_uc009xka.1_Missense_Mutation_p.F371L|CACNB2_uc001ipw.2_Missense_Mutation_p.F344L|CACNB2_uc001ipx.2_Missense_Mutation_p.F382L|CACNB2_uc001ipz.2_Missense_Mutation_p.F359L|CACNB2_uc001ipy.2_Missense_Mutation_p.F383L|CACNB2_uc010qco.1_Missense_Mutation_p.F351L|CACNB2_uc001iqa.2_Missense_Mutation_p.F389L|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	437					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834947	18834947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18834947G>A	uc010qcp.1	-	11	1743	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	442							methyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21134226	21134226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21134226T>A	uc001iqi.2	-	12	1585	c.1188A>T	c.(1186-1188)GAA>GAT	p.E396D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	396	Nebulin 11.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21309122	21309122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21309122G>A	uc001iqk.2	-	3	527	c.173C>T	c.(172-174)CCG>CTG	p.P58L		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22208825	22208825	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22208825T>C	uc001irc.2	-	5	858	c.571A>G	c.(571-573)AAA>GAA	p.K191E	DNAJC1_uc001ird.2_Missense_Mutation_p.K77E	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	191	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)																---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22657522	22657522	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22657522G>C	uc001iri.2	+	4	529	c.387G>C	c.(385-387)ACG>ACC	p.T129T	SPAG6_uc001irj.2_Silent_p.T129T|SPAG6_uc010qct.1_Silent_p.T99T|SPAG6_uc009xkh.2_Silent_p.T107T	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	129	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22676751	22676751	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22676751G>A	uc001iri.2	+	6	821	c.679_splice	c.e6-1	p.H227_splice	SPAG6_uc001irj.2_Splice_Site_p.H227_splice|SPAG6_uc010qct.1_Splice_Site_p.H197_splice|SPAG6_uc009xkh.2_Splice_Site_p.H205_splice	NM_012443	NP_036575			sperm associated antigen 6 isoform 1						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24813641	24813641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24813641T>A	uc001iru.3	+	13	3249	c.2846T>A	c.(2845-2847)TTC>TAC	p.F949Y	KIAA1217_uc001irs.2_Missense_Mutation_p.F869Y|KIAA1217_uc001irt.3_Missense_Mutation_p.F914Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.F914Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.F914Y|KIAA1217_uc001irv.1_Missense_Mutation_p.F764Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irz.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irx.2_Missense_Mutation_p.F632Y|KIAA1217_uc001iry.2_Missense_Mutation_p.F632Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	949					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24908746	24908746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24908746G>A	uc001isb.2	-	9	2565	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.A693V|ARHGAP21_uc010qdc.1_Missense_Mutation_p.A528V|ARHGAP21_uc001isc.1_Missense_Mutation_p.A683V	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	692					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24909193	24909193	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24909193G>T	uc001isb.2	-	9	2118	c.1631C>A	c.(1630-1632)CCT>CAT	p.P544H	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P544H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P379H|ARHGAP21_uc001isc.1_Missense_Mutation_p.P534H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	543					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25226286	25226286	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25226286G>A	uc001ise.1	-	3	195	c.166C>T	c.(166-168)CTG>TTG	p.L56L	PRTFDC1_uc010qdd.1_Silent_p.L56L|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	56					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324093	27324093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27324093G>A	uc001ith.2	-	24	3455	c.3283C>T	c.(3283-3285)CGG>TGG	p.R1095W	ANKRD26_uc001itg.2_Missense_Mutation_p.R782W|ANKRD26_uc009xku.1_Missense_Mutation_p.R1096W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1095	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27409429	27409429	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27409429C>A	uc001iti.2	-	14	1699	c.1517G>T	c.(1516-1518)AGG>ATG	p.R506M	YME1L1_uc001itj.2_Missense_Mutation_p.R449M|YME1L1_uc010qdl.1_Missense_Mutation_p.R416M|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	506					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27475474	27475474	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27475474T>A	uc001itm.2	+	12					MASTL_uc001itl.2_3'UTR|MASTL_uc009xkw.1_3'UTR|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27512277	27512277	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27512277A>T	uc010qdp.1	-	5	671	c.480T>A	c.(478-480)GAT>GAA	p.D160E	ACBD5_uc010qdm.1_Missense_Mutation_p.D158E|ACBD5_uc010qdn.1_Missense_Mutation_p.D51E|ACBD5_uc010qdo.1_Missense_Mutation_p.D51E|ACBD5_uc001ito.2_Missense_Mutation_p.D125E|ACBD5_uc001itp.2_Missense_Mutation_p.D51E|ACBD5_uc001itq.2_Missense_Mutation_p.D51E|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	158					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0																		---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27688067	27688067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27688067G>A	uc001itu.2	-	4	1578	c.1460C>T	c.(1459-1461)GCA>GTA	p.A487V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	487	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28414032	28414032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28414032A>G	uc001iua.1	-						MPP7_uc009xkz.1_Intron|MPP7_uc001iub.1_Intron|MPP7_uc009xla.2_Intron|MPP7_uc010qdv.1_Intron	NM_173496	NP_775767			palmitoylated membrane protein 7						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28878772	28878772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28878772G>A	uc001iuf.2	+	5	574	c.489G>A	c.(487-489)TGG>TGA	p.W163*	WAC_uc001iud.2_Nonsense_Mutation_p.W118*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.W118*|WAC_uc001iug.2_Nonsense_Mutation_p.W163*|WAC_uc001iuh.2_Nonsense_Mutation_p.W118*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	163					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28903500	28903500	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28903500G>C	uc001iuf.2	+	11	1527	c.1442G>C	c.(1441-1443)AGT>ACT	p.S481T	WAC_uc001iud.2_Missense_Mutation_p.S436T|WAC_uc001iue.2_Missense_Mutation_p.S171T|WAC_uc001iug.2_Missense_Mutation_p.S378T|WAC_uc001iuh.2_Missense_Mutation_p.S433T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	481					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
BAMBI	25805	broad.mit.edu	37	10	28970330	28970330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28970330G>A	uc001iuj.1	+	2	623	c.220G>A	c.(220-222)GCA>ACA	p.A74T	BAMBI_uc001iui.2_Missense_Mutation_p.A74T	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	74	Extracellular (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4																		---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759284	29759284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29759284T>C	uc001iut.1	-	32	6517	c.5764A>G	c.(5764-5766)ATC>GTC	p.I1922V	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.I836V|SVIL_uc001iuu.1_Missense_Mutation_p.I1496V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1922	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29788121	29788121	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29788121C>A	uc001iut.1	-	18	4341	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	SVIL_uc010qdw.1_Missense_Mutation_p.E110D|SVIL_uc001iuu.1_Missense_Mutation_p.E770D|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1196					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29811383	29811383	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29811383C>A	uc001iut.1	-	16	4098	c.3345G>T	c.(3343-3345)GAG>GAT	p.E1115D	SVIL_uc010qdw.1_Missense_Mutation_p.E13D|SVIL_uc001iuu.1_Missense_Mutation_p.E689D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1115					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29821634	29821634	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29821634G>T	uc001iut.1	-	8	2415	c.1662C>A	c.(1660-1662)CCC>CCA	p.P554P	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.P554P	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	554					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316580	30316580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30316580T>C	uc001iux.2	-	2	2556	c.2497A>G	c.(2497-2499)AGT>GGT	p.S833G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S695G|KIAA1462_uc009xle.1_Missense_Mutation_p.S833G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	833										ovary(4)	4																		---	---	---	---
MAP3K8	1326	broad.mit.edu	37	10	30749657	30749657	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30749657C>T	uc001ivi.1	+	9	1992	c.1296C>T	c.(1294-1296)ACC>ACT	p.T432T	MAP3K8_uc009xlf.1_Silent_p.T432T|MAP3K8_uc001ivj.1_Silent_p.T432T	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	432			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)																---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31134156	31134156	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31134156T>C	uc010qdz.1	-	8	2656	c.2221A>G	c.(2221-2223)ATG>GTG	p.M741V	ZNF438_uc001ivn.2_Missense_Mutation_p.M692V|ZNF438_uc010qdy.1_Missense_Mutation_p.M731V|ZNF438_uc001ivo.3_Missense_Mutation_p.M305V|ZNF438_uc009xlg.2_Missense_Mutation_p.M741V|ZNF438_uc001ivp.3_Missense_Mutation_p.M731V|ZNF438_uc010qea.1_Missense_Mutation_p.M741V|ZNF438_uc010qeb.1_Missense_Mutation_p.M741V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)																---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809776	31809776	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809776A>G	uc001ivs.3	+	7	1576	c.1513A>G	c.(1513-1515)AGT>GGT	p.S505G	ZEB1_uc001ivr.3_Missense_Mutation_p.S287G|ZEB1_uc010qee.1_Missense_Mutation_p.S287G|ZEB1_uc010qef.1_Missense_Mutation_p.S287G|ZEB1_uc009xlj.1_Missense_Mutation_p.S431G|ZEB1_uc010qeg.1_Missense_Mutation_p.S364G|ZEB1_uc009xlk.1_Missense_Mutation_p.S287G|ZEB1_uc001ivt.3_Missense_Mutation_p.S287G|ZEB1_uc001ivu.3_Missense_Mutation_p.S506G|ZEB1_uc001ivv.3_Missense_Mutation_p.S485G|ZEB1_uc010qeh.1_Missense_Mutation_p.S438G|ZEB1_uc009xlo.1_Missense_Mutation_p.S488G|ZEB1_uc009xlp.2_Missense_Mutation_p.S489G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	505					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32560682	32560682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32560682T>C	uc001iwg.1	-	14	2508	c.2238A>G	c.(2236-2238)ACA>ACG	p.T746T	EPC1_uc001iwi.3_Silent_p.T673T|EPC1_uc001iwh.1_Silent_p.T723T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	746					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)																---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33491884	33491884	+	Missense_Mutation	SNP	A	G	G	rs143549013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33491884A>G	uc001iwx.3	-	11	2322	c.1799T>C	c.(1798-1800)GTG>GCG	p.V600A	NRP1_uc001iwv.3_Missense_Mutation_p.V600A|NRP1_uc009xlz.2_Missense_Mutation_p.V600A|NRP1_uc001iww.3_Missense_Mutation_p.V419A|NRP1_uc001iwy.3_Missense_Mutation_p.V600A|NRP1_uc001iwz.2_Missense_Mutation_p.V600A|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Missense_Mutation_p.V600A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	600	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35360229	35360229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35360229C>T	uc001ixv.2	-	2	227	c.17G>A	c.(16-18)AGA>AAA	p.R6K	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.R25K|CUL2_uc001ixw.2_Missense_Mutation_p.R6K|CUL2_uc010qes.1_Missense_Mutation_p.R6K	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	6					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3																		---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35896548	35896548	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35896548T>C	uc001iyy.1	+	2	265	c.107T>C	c.(106-108)GTG>GCG	p.V36A		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	36	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35929473	35929473	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35929473G>A	uc001iyz.1	-	1	890	c.885C>T	c.(883-885)ACC>ACT	p.T295T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	295	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0																		---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38127040	38127040	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38127040C>A	uc001izd.1	-	4	515	c.16_splice	c.e4-1	p.E6_splice	ZNF248_uc009xmc.2_Splice_Site_p.E6_splice|ZNF248_uc001izb.2_Splice_Site|ZNF248_uc001izc.2_Splice_Site_p.E6_splice|ZNF248_uc010qeu.1_Splice_Site_p.E6_splice	NM_021045	NP_066383			zinc finger protein 248						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345455	38345455	+	Silent	SNP	A	T	T	rs12242343	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38345455A>T	uc001izh.2	+	5	2578	c.2400A>T	c.(2398-2400)GGA>GGT	p.G800G	ZNF33A_uc001izg.2_Silent_p.G801G|ZNF33A_uc010qev.1_Silent_p.G807G|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	800						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089023	43089023	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089023G>T	uc001jaf.1	-	5	1490	c.1375C>A	c.(1375-1377)CAC>AAC	p.H459N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H347N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	459	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089341	43089341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089341C>T	uc001jaf.1	-	5	1172	c.1057G>A	c.(1057-1059)GGA>AGA	p.G353R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.G241R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43325851	43325851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43325851G>A	uc001jaj.2	+	22	3957	c.3599G>A	c.(3598-3600)CGC>CAC	p.R1200H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R1200G(1)		ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139744	44139744	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139744A>T	uc001jbb.2	-	3	765	c.576T>A	c.(574-576)GAT>GAA	p.D192E	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.D192E	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	192	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139814	44139814	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139814C>G	uc001jbb.2	-	3	695	c.506G>C	c.(505-507)AGC>ACC	p.S169T	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.S169T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	169	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480371	45480371	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480371A>G	uc001jbo.2	+	6	618	c.484A>G	c.(484-486)ATC>GTC	p.I162V	RASSF4_uc001jbp.2_Missense_Mutation_p.I193V|RASSF4_uc009xmn.2_Missense_Mutation_p.I92V|RASSF4_uc001jbq.2_Missense_Mutation_p.I59V|RASSF4_uc001jbt.2_Missense_Mutation_p.I119V	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	162					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480399	45480399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480399G>A	uc001jbo.2	+	6	646	c.512G>A	c.(511-513)GGC>GAC	p.G171D	RASSF4_uc001jbp.2_Missense_Mutation_p.G202D|RASSF4_uc009xmn.2_Missense_Mutation_p.G101D|RASSF4_uc001jbq.2_Missense_Mutation_p.G68D|RASSF4_uc001jbt.2_Missense_Mutation_p.G128D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	171					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121968	46121968	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121968A>T	uc001jcp.3	-	7	1545	c.1303T>A	c.(1303-1305)TTG>ATG	p.L435M	ANUBL1_uc001jcl.3_Translation_Start_Site|ANUBL1_uc001jcm.3_Missense_Mutation_p.L435M|ANUBL1_uc009xmu.2_Missense_Mutation_p.L361M|ANUBL1_uc001jcn.3_Missense_Mutation_p.L361M|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	435							zinc ion binding				0																		---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389189	48389189	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48389189T>C	uc001jez.2	-	1	1803	c.1689A>G	c.(1687-1689)ACA>ACG	p.T563T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	563	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)													---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48413794G>A	uc001jfa.1	-	2	1237	c.1074C>T	c.(1072-1074)GGC>GGT	p.G358G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49420096	49420096	+	Silent	SNP	G	A	A	rs116034209	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49420096G>A	uc001jgi.2	-	13	1619	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	FRMPD2_uc001jgh.2_Silent_p.I472I|FRMPD2_uc001jgj.2_Silent_p.I482I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49448436	49448436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49448436C>T	uc001jgi.2	-	6	774	c.667G>A	c.(667-669)GCA>ACA	p.A223T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A192T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A201T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	223					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49654565	49654565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49654565G>A	uc001jgt.2	-	10	2263	c.1966C>T	c.(1966-1968)CTG>TTG	p.L656L	ARHGAP22_uc001jgs.2_Silent_p.L566L|ARHGAP22_uc001jgu.2_Silent_p.L672L|ARHGAP22_uc010qgl.1_Silent_p.L613L|ARHGAP22_uc010qgm.1_Silent_p.L662L|ARHGAP22_uc001jgv.2_Silent_p.L354L|ARHGAP22_uc001jgr.2_Silent_p.L373L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	656	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1																		---	---	---	---
C10orf72	196740	broad.mit.edu	37	10	50227737	50227737	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50227737G>A	uc001jhf.2	-	8	950	c.921C>T	c.(919-921)AGC>AGT	p.S307S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50736484	50736484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50736484C>T	uc001jhs.3	-	4	785	c.631G>A	c.(631-633)GCC>ACC	p.A211T	PGBD3_uc009xoe.2_Missense_Mutation_p.A211T|PGBD3_uc001jhu.2_Missense_Mutation_p.A211T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	211					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16													Direct_reversal_of_damage|NER					---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819081	50819081	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50819081G>C	uc001jhw.2	+	1	735	c.295G>C	c.(295-297)GCG>CCG	p.A99P	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2																		---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50833609	50833609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50833609G>A	uc001jhz.2	+	6	996	c.843G>A	c.(841-843)CGG>CGA	p.R281R	CHAT_uc001jhv.1_Silent_p.R163R|CHAT_uc001jhx.1_Silent_p.R163R|CHAT_uc001jhy.1_Silent_p.R163R|CHAT_uc001jia.2_Silent_p.R163R|CHAT_uc010qgs.1_Silent_p.R163R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	281					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835644	50835644	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50835644T>C	uc001jhz.2	+						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_Intron|CHAT_uc001jhy.1_Intron|CHAT_uc001jia.2_Intron|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574			choline acetyltransferase isoform 2						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
AGAP7	653268	broad.mit.edu	37	10	51465221	51465221	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51465221A>G	uc001jio.2	-	7	1361	c.1235T>C	c.(1234-1236)GTC>GCC	p.V412A	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	412	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52071042	52071042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52071042G>A	uc001jje.2	-	9	1829	c.875C>T	c.(874-876)ACC>ATC	p.T292I	SGMS1_uc010qhk.1_Missense_Mutation_p.T123I|SGMS1_uc009xot.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	298	Helical; (Potential).				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2																		---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52610496	52610496	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52610496T>C	uc001jjj.2	-						A1CF_uc010qhn.1_Missense_Mutation_p.T18A|A1CF_uc001jji.2_Intron|A1CF_uc001jjh.2_Missense_Mutation_p.T18A|A1CF_uc010qho.1_Missense_Mutation_p.T18A|A1CF_uc009xov.2_Intron|A1CF_uc001jjk.1_Intron	NM_138932	NP_620310			apobec-1 complementation factor isoform 2						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1																		---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	52834553	52834553	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52834553T>C	uc001jjm.2	+						PRKG1_uc001jjn.2_Missense_Mutation_p.L68S|PRKG1_uc001jjo.2_Missense_Mutation_p.L68S|PRKG1_uc010qhp.1_Intron	NM_001098512	NP_001091982			protein kinase, cGMP-dependent, type I isoform						actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53457790	53457790	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53457790C>G	uc001jjp.2	-	1	1566	c.1520G>C	c.(1519-1521)GGT>GCT	p.G507A	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	507	2-1.|9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)														---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54530479	54530479	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54530479A>G	uc001jjt.2	-	2	320	c.255T>C	c.(253-255)TCT>TCC	p.S85S		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	85	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566537	55566537	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55566537A>G	uc010qhq.1	-	36	5246	c.4851T>C	c.(4849-4851)CCT>CCC	p.P1617P	PCDH15_uc010qhr.1_Silent_p.P1612P	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58117901	58117901	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58117901C>T	uc001jjx.1	-	9					ZWINT_uc001jjy.1_3'UTR|ZWINT_uc001jka.1_3'UTR	NM_007057	NP_008988			ZW10 interactor isoform a						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58119836	58119836	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58119836G>T	uc001jjx.1	-	3	236	c.199C>A	c.(199-201)CTG>ATG	p.L67M	ZWINT_uc001jjy.1_Missense_Mutation_p.L67M|ZWINT_uc001jka.1_Missense_Mutation_p.L67M|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	67					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60273031	60273031	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60273031G>T	uc001jki.1	+	1	128	c.128G>T	c.(127-129)AGC>ATC	p.S43I		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	43					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60562892	60562892	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60562892G>A	uc001jki.1	+	15	2071	c.2071G>A	c.(2071-2073)GCT>ACT	p.A691T	BICC1_uc001jkj.1_Missense_Mutation_p.A332T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	691					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61014096	61014096	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61014096A>G	uc001jkn.2	-						FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Intron|FAM13C_uc010qie.1_Intron|FAM13C_uc010qif.1_Intron|FAM13C_uc001jkp.2_Silent_p.D365D	NM_198215	NP_937858			hypothetical protein LOC220965 isoform 1											ovary(2)	2																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61083850	61083850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61083850A>G	uc001jkn.2	-	5	475	c.341T>C	c.(340-342)GTA>GCA	p.V114A	FAM13C_uc001jko.2_Missense_Mutation_p.V114A|FAM13C_uc010qid.1_Missense_Mutation_p.V31A|FAM13C_uc010qie.1_Missense_Mutation_p.V31A|FAM13C_uc010qif.1_Missense_Mutation_p.V136A|FAM13C_uc001jkp.2_Missense_Mutation_p.V31A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	114										ovary(2)	2																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828702	61828702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61828702G>A	uc001jky.2	-	37	12129	c.11937C>T	c.(11935-11937)AGC>AGT	p.S3979S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3979	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834285	61834285	+	Silent	SNP	G	A	A	rs116585069	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61834285G>A	uc001jky.2	-	37	6546	c.6354C>T	c.(6352-6354)CAC>CAT	p.H2118H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2118					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62652726	62652726	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62652726C>A	uc001jli.2	-	6	762	c.324G>T	c.(322-324)TCG>TCT	p.S108S	RHOBTB1_uc001jlh.2_Silent_p.S108S|RHOBTB1_uc001jlj.2_Silent_p.S108S|RHOBTB1_uc001jlk.2_Silent_p.S108S|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	108	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)																	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63188896	63188896	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63188896A>G	uc001jlo.2	-	4	762	c.393T>C	c.(391-393)GTT>GTC	p.V131V	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	131						integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64415333	64415333	+	Silent	SNP	G	A	A	rs141141483		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573486	64573486	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64573486G>T	uc010qim.1	-	3	1066	c.912C>A	c.(910-912)GCC>GCA	p.A304A	EGR2_uc010qin.1_Silent_p.A254A|EGR2_uc001jmi.2_Silent_p.A304A|EGR2_uc010qio.1_Silent_p.A317A|EGR2_uc009xph.2_Silent_p.A304A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	304	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64937580	64937580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64937580T>C	uc001jmn.2	-	23	7421	c.7121A>G	c.(7120-7122)GAC>GGC	p.D2374G	JMJD1C_uc001jml.2_Missense_Mutation_p.D2137G|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2086G|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2192G|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2192G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D281G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2374	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64944401	64944401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64944401G>A	uc001jmn.2	-	21	7228	c.6928C>T	c.(6928-6930)CCT>TCT	p.P2310S	JMJD1C_uc001jml.2_Missense_Mutation_p.P2073S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P2022S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P2128S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P2128S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.P217S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2310	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686693	68686693	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686693A>G	uc001jmz.1	+	2	569	c.19A>G	c.(19-21)AGG>GGG	p.R7G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R7G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	7						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686785	68686785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686785C>T	uc001jmz.1	+	2	661	c.111C>T	c.(109-111)GGC>GGT	p.G37G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.G37G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	37	Extracellular (Potential).|LRRNT.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979622	68979622	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68979622T>C	uc009xpn.1	-	6	709	c.586A>G	c.(586-588)AAA>GAA	p.K196E	CTNNA3_uc001jmw.2_Missense_Mutation_p.K196E|CTNNA3_uc001jmx.3_Missense_Mutation_p.K196E|CTNNA3_uc009xpo.1_Missense_Mutation_p.K56E|CTNNA3_uc001jna.2_Missense_Mutation_p.K208E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	196					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	69407206	69407206	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69407206G>A	uc009xpn.1	-	2	189	c.66C>T	c.(64-66)ACC>ACT	p.T22T	CTNNA3_uc001jmw.2_Silent_p.T22T|CTNNA3_uc001jmx.3_Silent_p.T22T|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.T34T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	22					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
DNAJC12	56521	broad.mit.edu	37	10	69583091	69583091	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69583091A>G	uc001jnb.2	-	2	306	c.138T>C	c.(136-138)CAT>CAC	p.H46H	DNAJC12_uc001jnc.2_Silent_p.H46H	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	46	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1																		---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69948775G>A	uc001jnm.3	+	14	3002	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T	MYPN_uc001jnn.3_Silent_p.T664T|MYPN_uc001jno.3_Silent_p.T939T|MYPN_uc009xpt.2_Silent_p.T939T|MYPN_uc010qit.1_Silent_p.T645T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5																		---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70056653	70056653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70056653G>A	uc001jns.1	-	3	377	c.174C>T	c.(172-174)AAC>AAT	p.N58N	PBLD_uc001jnr.1_Silent_p.N25N|PBLD_uc001jnt.1_Silent_p.N58N|PBLD_uc001jnu.1_Silent_p.N58N|PBLD_uc001jnv.1_Silent_p.N58N	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	58					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3																		---	---	---	---
HNRNPH3	3189	broad.mit.edu	37	10	70098890	70098890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70098890T>C	uc001jnw.3	+						HNRNPH3_uc001jnx.3_Intron|HNRNPH3_uc009xpu.2_Intron|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Intron	NM_012207	NP_036339			heterogeneous nuclear ribonucleoprotein H3						nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70138421	70138421	+	Intron	SNP	G	A	A	rs142776124	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70138421G>A	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Silent_p.N370N|RUFY2_uc010qiw.1_Silent_p.N346N	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70204764	70204764	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70204764T>C	uc001jof.2	-	8	1392	c.1392A>G	c.(1390-1392)ACA>ACG	p.T464T	DNA2_uc001jog.1_Silent_p.T378T|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	378					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0																		---	---	---	---
TET1	80312	broad.mit.edu	37	10	70404504	70404504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70404504A>T	uc001jok.3	+	4	2523	c.2018A>T	c.(2017-2019)GAC>GTC	p.D673V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	673	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70496769	70496769	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70496769G>T	uc001joo.2	+	3	329	c.210G>T	c.(208-210)CAG>CAT	p.Q70H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Missense_Mutation_p.Q70H|CCAR1_uc001jon.1_Missense_Mutation_p.A60S|CCAR1_uc010qiz.1_Missense_Mutation_p.Q70H|CCAR1_uc010qja.1_Missense_Mutation_p.Q70H|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	70					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70500386	70500386	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70500386T>C	uc001joo.2	+	5	411	c.292T>C	c.(292-294)TTA>CTA	p.L98L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Intron|CCAR1_uc001jon.1_Intron|CCAR1_uc010qiz.1_Silent_p.L83L|CCAR1_uc010qja.1_Silent_p.L83L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	98					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70645238	70645238	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70645238A>G	uc001jos.2	+	3	1773	c.1686A>G	c.(1684-1686)GAA>GAG	p.E562E	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.E452E	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	562						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71912223	71912223	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71912223G>A	uc010qjh.1	-	8					SAR1A_uc010qji.1_3'UTR|SAR1A_uc010qjj.1_3'UTR	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179739	72179739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179739C>T	uc001jrb.2	+	2	512	c.215C>T	c.(214-216)CCC>CTC	p.P72L		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	72					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72291167	72291167	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72291167C>A	uc001jrd.3	+	5	871	c.590C>A	c.(589-591)CCC>CAC	p.P197H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	197										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72297649	72297649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72297649A>G	uc001jrd.3	+	11	1591	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	437										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SLC29A3	55315	broad.mit.edu	37	10	73082559	73082559	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73082559C>A	uc001jrr.3	+	2	105	c.48C>A	c.(46-48)ACC>ACA	p.T16T	SLC29A3_uc001jrs.3_Silent_p.T16T|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	16	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73377101	73377101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73377101A>G	uc001jrx.3	+	11	1462	c.1085A>G	c.(1084-1086)CAG>CGG	p.Q362R	CDH23_uc001jrw.3_Missense_Mutation_p.Q362R|CDH23_uc009xql.2_Missense_Mutation_p.Q407R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73468938	73468938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73468938G>A	uc001jrx.3	+	26	3567	c.3190G>A	c.(3190-3192)GCC>ACC	p.A1064T	CDH23_uc001jrz.2_Missense_Mutation_p.A680T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1064	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73537513	73537513	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73537513T>C	uc001jrx.3	+	37	5299	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1641	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74692183	74692183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74692183C>T	uc001jte.1	+	9	1757	c.1539C>T	c.(1537-1539)TGC>TGT	p.C513C	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	513	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)																	---	---	---	---
ZMYND17	118490	broad.mit.edu	37	10	75185715	75185715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75185715C>T	uc001jud.2	-	5	989	c.923G>A	c.(922-924)GGC>GAC	p.G308D	ZMYND17_uc001juc.2_Missense_Mutation_p.G308D|ZMYND17_uc009xrh.2_Missense_Mutation_p.G331D|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	308							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)																	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75231343	75231343	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75231343A>G	uc001jue.2	-	5	687	c.552T>C	c.(550-552)TAT>TAC	p.Y184Y	PPP3CB_uc001juf.2_Silent_p.Y184Y|PPP3CB_uc001jug.2_Silent_p.Y184Y|PPP3CB_uc001jui.2_Silent_p.Y202Y|PPP3CB_uc001juh.2_Silent_p.Y98Y	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	184	Catalytic.									skin(1)	1	Prostate(51;0.0119)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75260443	75260443	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75260443T>C	uc001juo.2	-	21	4482	c.4465A>G	c.(4465-4467)ACC>GCC	p.T1489A	USP54_uc010qkk.1_Missense_Mutation_p.T624A|USP54_uc001juk.2_Missense_Mutation_p.T577A|USP54_uc001jul.2_Missense_Mutation_p.T530A|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1489					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75331241	75331241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75331241T>C	uc001juo.2	-	2	195	c.178A>G	c.(178-180)AGC>GGC	p.S60G	USP54_uc001jup.2_Missense_Mutation_p.S60G|USP54_uc010qkl.1_Missense_Mutation_p.S60G	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	60					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406539	75406539	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75406539T>A	uc001jut.3	-	4	3023	c.2871A>T	c.(2869-2871)CGA>CGT	p.R957R	SYNPO2L_uc001jus.3_Silent_p.R733R	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	957						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75530709	75530709	+	Intron	SNP	G	A	A	rs143818883	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75530709G>A	uc001juw.2	+						SEC24C_uc001jux.2_Intron|SEC24C_uc010qko.1_Intron|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913			SEC24-related protein C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75555382	75555382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75555382A>G	uc009xrl.2	+	15	3011	c.2979A>G	c.(2977-2979)CTA>CTG	p.L993L	KIAA0913_uc001jve.2_Silent_p.L998L|KIAA0913_uc001jvf.2_Silent_p.L993L|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.L421L|KIAA0913_uc010qkr.1_Silent_p.L416L|KIAA0913_uc001jvj.2_Silent_p.L416L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	993							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75576871	75576871	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75576871T>C	uc001jvv.1	-	19	1448	c.1324A>G	c.(1324-1326)ATT>GTT	p.I442V	CAMK2G_uc001jvm.1_Missense_Mutation_p.I450V|CAMK2G_uc001jvo.1_Missense_Mutation_p.I421V|CAMK2G_uc001jvq.1_Missense_Mutation_p.I398V|CAMK2G_uc001jvr.1_Missense_Mutation_p.I389V|CAMK2G_uc001jvp.1_Missense_Mutation_p.I412V|CAMK2G_uc001jvs.1_Missense_Mutation_p.I433V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I390V|CAMK2G_uc009xrp.1_Missense_Mutation_p.I39V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	452					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75868743	75868743	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75868743T>C	uc001jwd.2	+	18	2668	c.2574T>C	c.(2572-2574)CTT>CTC	p.L858L	VCL_uc009xrr.2_Silent_p.L607L|VCL_uc010qky.1_Silent_p.L765L|VCL_uc001jwe.2_Silent_p.L858L|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	858	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78647281	78647281	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78647281G>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron|uc001jxp.2_5'Flank	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729727	78729727	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78729727C>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79556266	79556266	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79556266C>T	uc001jzk.2	-	28	5321	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M	DLG5_uc001jzi.2_Missense_Mutation_p.V506M|DLG5_uc001jzj.2_Missense_Mutation_p.V1166M|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1751	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79569349	79569349	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79569349C>T	uc001jzk.2	-	24	4673	c.4603G>A	c.(4603-4605)GCC>ACC	p.A1535T	DLG5_uc001jzi.2_Missense_Mutation_p.A290T|DLG5_uc001jzj.2_Missense_Mutation_p.A950T|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1535	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79761991	79761991	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79761991T>C	uc001jzn.2	-	17	2417	c.2323A>G	c.(2323-2325)AAC>GAC	p.N775D		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	775					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79773500	79773500	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79773500T>C	uc001jzn.2	-	11	1574	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	494					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	80968104	80968104	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:80968104T>A	uc001kaf.2	+	6	644	c.72T>A	c.(70-72)AAT>AAA	p.N24K	ZMIZ1_uc001kae.2_Missense_Mutation_p.N24K	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	24					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)															---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82280515	82280515	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82280515A>G	uc001kcj.3	+	9					TSPAN14_uc009xss.2_3'UTR|TSPAN14_uc001kci.3_3'UTR	NM_030927	NP_112189			tetraspanin 14 isoform 1							integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)															---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85970802	85970802	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85970802G>T	uc001kcv.2	+	13	1366	c.1366G>T	c.(1366-1368)GCG>TCG	p.A456S	CDHR1_uc001kcw.2_Missense_Mutation_p.A456S|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	456	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973041	85973041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85973041G>T	uc001kcv.2	+	16	1977	c.1977G>T	c.(1975-1977)AAG>AAT	p.K659N	CDHR1_uc001kcw.2_Missense_Mutation_p.K659N|CDHR1_uc009xst.2_Missense_Mutation_p.K363N|CDHR1_uc001kcx.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	659	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373349	87373349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:87373349G>A	uc001kdl.1	-	15	2517	c.2416C>T	c.(2416-2418)CCG>TCG	p.P806S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P377S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	806	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)										Multiple Myeloma(13;0.14)			---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703005	88703005	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703005C>T	uc001kea.2	-	6	1663	c.1536G>A	c.(1534-1536)ACG>ACA	p.T512T	MMRN2_uc010qmn.1_Silent_p.T155T|MMRN2_uc009xtb.2_Silent_p.T469T	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	512						extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703232	88703232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703232G>A	uc001kea.2	-	6	1436	c.1309C>T	c.(1309-1311)CAG>TAG	p.Q437*	MMRN2_uc010qmn.1_Nonsense_Mutation_p.Q80*|MMRN2_uc009xtb.2_Nonsense_Mutation_p.Q394*	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	437	Potential.					extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88705404	88705404	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88705404T>C	uc001kea.2	-	2	334	c.207A>G	c.(205-207)CTA>CTG	p.L69L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	69	EMI.					extracellular space				large_intestine(1)	1																		---	---	---	---
MINPP1	9562	broad.mit.edu	37	10	89312069	89312069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89312069G>A	uc001keu.2	+	5	1748	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_3'UTR	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	433					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)														---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89469058	89469058	+	Missense_Mutation	SNP	G	A	A	rs142362349		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89469058G>A	uc001kex.2	+	2	396	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PAPSS2_uc001kew.2_Missense_Mutation_p.V45M|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	45	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)														---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89685303	89685303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89685303G>A	uc001kfb.2	+	4	1229	c.198G>A	c.(196-198)AAG>AAA	p.K66K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	66	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R55fs*1(4)|p.K66N(3)|p.K66E(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K66fs*38(1)|p.K66Q(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692811	89692811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692811G>A	uc001kfb.2	+	6	1326	c.295G>A	c.(295-297)GAA>AAA	p.E99K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	99	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.E99*(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.E99fs*15(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692895	89692895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692895G>A	uc001kfb.2	+	6	1410	c.379G>A	c.(379-381)GGA>AGA	p.G127R		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	127	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.G127E(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.G127V(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
CH25H	9023	broad.mit.edu	37	10	90966740	90966740	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90966740G>A	uc001kfz.2	-	1	332	c.310C>T	c.(310-312)CTG>TTG	p.L104L		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	104	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)														---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066414	91066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91066414A>G	uc009xts.2	+	2	876	c.701A>G	c.(700-702)AAG>AGG	p.K234R	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	234					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)																---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92502258T>C	uc001kha.2	-	4	1664	c.1421A>G	c.(1420-1422)AAG>AGG	p.K474R	HTR7_uc001kgz.2_Silent_p.K441K|HTR7_uc001khb.2_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	474	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)													---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93242786	93242786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93242786T>C	uc001khl.2	+	8	874	c.774T>C	c.(772-774)GCT>GCC	p.A258A	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Silent_p.A258A|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1																		---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390605	93390605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93390605A>T	uc001kho.2	-	2	165	c.33T>A	c.(31-33)GAT>GAA	p.D11E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	11							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)																---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93602099	93602099	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93602099A>G	uc001khp.2	+	16	2307	c.2010A>G	c.(2008-2010)GTA>GTG	p.V670V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	670					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93711220	93711220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93711220G>A	uc001khr.2	+	5	559	c.461G>A	c.(460-462)GGC>GAC	p.G154D	BTAF1_uc009xua.1_RNA	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93740222	93740222	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93740222T>G	uc001khr.2	+	15	1760	c.1662T>G	c.(1660-1662)TCT>TCG	p.S554S	BTAF1_uc001khs.1_Silent_p.S224S|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	554	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94373156	94373156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94373156A>G	uc001kic.2	+	8	1120	c.812A>G	c.(811-813)AAC>AGC	p.N271S	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	271	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1																		---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Silent	SNP	C	T	T	rs75784691	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94688101C>T	uc001kig.2	+	9	960	c.894C>T	c.(892-894)GAC>GAT	p.D298D	EXOC6_uc010qnr.1_Silent_p.D314D|EXOC6_uc001kie.2_Silent_p.D293D|EXOC6_uc009xub.2_Silent_p.D298D|EXOC6_uc009xuc.2_Silent_p.D275D|EXOC6_uc001kih.2_RNA	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	298					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)																---	---	---	---
CYP26C1	340665	broad.mit.edu	37	10	94822706	94822706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94822706A>G	uc010qns.1	+	3	659	c.659A>G	c.(658-660)AAC>AGC	p.N220S	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	220					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)																---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95079778	95079778	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95079778G>A	uc001kin.2	-						MYOF_uc001kio.2_Intron|MYOF_uc009xue.2_Intron	NM_013451	NP_038479			myoferlin isoform a						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95110997	95110997	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95110997A>G	uc001kin.2	-	35	4001	c.3878T>C	c.(3877-3879)GTC>GCC	p.V1293A	MYOF_uc001kio.2_Missense_Mutation_p.V1280A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1293	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95119640	95119640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95119640C>A	uc001kin.2	-	29	3193	c.3070G>T	c.(3070-3072)GTC>TTC	p.V1024F	MYOF_uc001kio.2_Missense_Mutation_p.V1011F|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1024	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
TMEM20	159371	broad.mit.edu	37	10	95660549	95660549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95660549A>G	uc001kjg.1	+	3	461	c.400A>G	c.(400-402)ATT>GTT	p.I134V	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.I133V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.I117V|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	134	DUF6 1.|Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)														---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95931262	95931262	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95931262C>T	uc001kjk.2	+						PLCE1_uc010qnx.1_Intron|PLCE1_uc001kjm.2_Intron	NM_016341	NP_057425			phospholipase C, epsilon 1 isoform 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96033402	96033402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96033402A>G	uc001kjk.2	+	19	5224	c.4590A>G	c.(4588-4590)CAA>CAG	p.Q1530Q	PLCE1_uc010qnx.1_Silent_p.Q1514Q|PLCE1_uc001kjm.2_Silent_p.Q1222Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1530	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96084175G>A	uc001kjk.2	+	31	7205	c.6571G>A	c.(6571-6573)GAA>AAA	p.E2191K	PLCE1_uc010qnx.1_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.2_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2191	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96109949	96109949	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96109949A>G	uc001kjq.1	-	9	1137	c.1049T>C	c.(1048-1050)TTG>TCG	p.L350S	NOC3L_uc009xuk.1_Missense_Mutation_p.L135S	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	350						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96313922	96313922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96313922T>C	uc001kjt.2	+	3	298	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	HELLS_uc001kjs.2_Missense_Mutation_p.Y49H|HELLS_uc009xul.2_Missense_Mutation_p.Y65H|HELLS_uc009xum.2_Missense_Mutation_p.Y65H|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.Y65H|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	65	Potential.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)														---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96535189	96535189	+	Missense_Mutation	SNP	G	A	A	rs141774245	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96535189G>A	uc010qnz.1	+	3	374	c.374G>A	c.(373-375)CGT>CAT	p.R125H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R103H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	125					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)													---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817790	97817790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817790T>C	uc001klm.2	+	6	1270	c.911T>C	c.(910-912)GTA>GCA	p.V304A	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.V315A|CCNJ_uc001kln.2_Missense_Mutation_p.V303A	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	304						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817887	97817887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817887G>A	uc001klm.2	+	6	1367	c.1008G>A	c.(1006-1008)GGG>GGA	p.G336G	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.G347G|CCNJ_uc001kln.2_Silent_p.G335G	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	336						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98087280	98087280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98087280C>T	uc001kmf.2	+	7	1100	c.930C>T	c.(928-930)GCC>GCT	p.A310A	DNTT_uc001kmg.2_Silent_p.A310A	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	310	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)														---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98192700	98192700	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98192700T>C	uc001kml.1	-	4	610	c.384A>G	c.(382-384)ACA>ACG	p.T128T	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	128					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98303917	98303917	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98303917T>G	uc001kmm.3	-	9	1318	c.1101A>C	c.(1099-1101)CCA>CCC	p.P367P	TM9SF3_uc010qot.1_Silent_p.P367P|TM9SF3_uc001kmn.1_Silent_p.P136P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	367	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98307727	98307727	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98307727T>C	uc001kmm.3	-	8	1196	c.979A>G	c.(979-981)ACA>GCA	p.T327A	TM9SF3_uc010qot.1_Missense_Mutation_p.T327A|TM9SF3_uc001kmn.1_Missense_Mutation_p.T96A	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	327						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98355389	98355389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98355389G>T	uc001kmq.2	-	17	2491	c.2363C>A	c.(2362-2364)CCT>CAT	p.P788H	PIK3AP1_uc001kmo.2_Missense_Mutation_p.P387H|PIK3AP1_uc001kmp.2_Missense_Mutation_p.P610H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	788	Pro-rich.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---
LCOR	84458	broad.mit.edu	37	10	98714929	98714929	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98714929A>T	uc001kms.1	+	8	1073	c.552A>T	c.(550-552)GGA>GGT	p.G184G	LCOR_uc001kmr.2_Silent_p.G184G|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.G184G|LCOR_uc001kmu.1_Silent_p.G184G	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	184						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)														---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98741550	98741550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98741550A>G	uc001kmv.2	+	1	510	c.403A>G	c.(403-405)ATA>GTA	p.I135V	C10orf12_uc009xvg.1_Missense_Mutation_p.I445V	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	135										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)														---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99016073	99016073	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99016073A>G	uc001knb.2	-	6	956	c.927_splice	c.e6+1	p.K309_splice	ARHGAP19_uc001kmy.2_Splice_Site|ARHGAP19_uc001kna.2_Splice_Site_p.K300_splice|ARHGAP19_uc009xvi.2_Splice_Site|ARHGAP19_uc009xvj.2_Intron|ARHGAP19_uc009xvk.2_Splice_Site_p.K103_splice	NM_032900	NP_116289			Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)														---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99200918	99200918	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99200918T>C	uc001kni.2	-						EXOSC1_uc009xvp.1_Intron	NM_016046	NP_057130			exosomal core protein CSL4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)														---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99212269	99212269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99212269T>C	uc001knj.2	+						ZDHHC16_uc001knp.2_Intron|ZDHHC16_uc001knk.2_Intron|ZDHHC16_uc001knl.2_Intron|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Intron|ZDHHC16_uc010qow.1_Intron|ZDHHC16_uc009xvq.2_Intron|ZDHHC16_uc001kno.2_Intron|ZDHHC16_uc009xvr.2_Intron	NM_198046	NP_932163			Abl-philin 2 isoform 1						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)														---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99236709	99236709	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99236709G>T	uc001kns.3	-	7	730	c.505C>A	c.(505-507)CTA>ATA	p.L169I	MMS19_uc009xvt.2_Missense_Mutation_p.L11I|MMS19_uc001knr.2_Missense_Mutation_p.L11I|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Missense_Mutation_p.L169I|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	169					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99327773	99327773	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99327773C>T	uc001knv.1	+	2	366	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	58											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99344676	99344676	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99344676G>A	uc010qoy.1	+						DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron	NM_018425	NP_060895			phosphatidylinositol 4-kinase type 2 alpha						phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)														---	---	---	---
C10orf62	414157	broad.mit.edu	37	10	99349971	99349971	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99349971T>A	uc001koa.2	+	1	488	c.317T>A	c.(316-318)ATC>AAC	p.I106N	DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	hypothetical protein LOC414157	106							protein binding				0		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968748	99968748	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968748G>A	uc001kow.3	+	4	1172	c.877G>A	c.(877-879)GCC>ACC	p.A293T	C10orf28_uc001kox.3_Missense_Mutation_p.A293T|C10orf28_uc001koy.3_Missense_Mutation_p.A293T|C10orf28_uc009xvx.2_Missense_Mutation_p.A293T|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	293							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968819	99968819	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968819T>C	uc001kow.3	+	4	1243	c.948T>C	c.(946-948)TCT>TCC	p.S316S	C10orf28_uc001kox.3_Silent_p.S316S|C10orf28_uc001koy.3_Silent_p.S316S|C10orf28_uc009xvx.2_Silent_p.S316S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	316							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100157113	100157113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100157113A>G	uc001kpc.2	-	6	700	c.614T>C	c.(613-615)CTG>CCG	p.L205P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.L205P|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	205							oxidoreductase activity			central_nervous_system(1)	1																		---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101122008	101122008	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101122008A>G	uc001kpp.3	+	4	2172	c.1883A>G	c.(1882-1884)TAC>TGC	p.Y628C	CNNM1_uc009xwe.2_Missense_Mutation_p.Y628C|CNNM1_uc010qpi.1_Missense_Mutation_p.Y628C|CNNM1_uc009xwf.2_Missense_Mutation_p.Y628C|CNNM1_uc009xwg.2_Missense_Mutation_p.Y28C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	628					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)														---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101370714	101370714	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101370714C>A	uc001kpx.2	-	4	1116	c.987G>T	c.(985-987)CAG>CAT	p.Q329H	SLC25A28_uc001kpy.2_Missense_Mutation_p.Q142H	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	329	Helical; Name=6; (Potential).|Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101445607	101445607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101445607C>A	uc001kqa.3	+	6	785	c.607C>A	c.(607-609)CTC>ATC	p.L203I	ENTPD7_uc009xwl.2_Missense_Mutation_p.L205I	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	203	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101462387	101462387	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101462387A>G	uc001kqa.3	+	12	1718	c.1540A>G	c.(1540-1542)ACG>GCG	p.T514A	ENTPD7_uc009xwl.2_Missense_Mutation_p.T516A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	514	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101728939	101728939	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101728939T>C	uc001kqj.2	-	3	293	c.201A>G	c.(199-201)GGA>GGG	p.G67G		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	67	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)														---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101835695	101835695	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101835695G>T	uc001kql.2	-	2	653	c.393C>A	c.(391-393)CCC>CCA	p.P131P		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	131	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)														---	---	---	---
POLL	27343	broad.mit.edu	37	10	103344632	103344632	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103344632A>G	uc001ktg.1	-	4	1384	c.618T>C	c.(616-618)GTT>GTC	p.V206V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.V206V|POLL_uc001ktj.1_Silent_p.V206V|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.V206V|POLL_uc001ktl.2_Silent_p.V118V|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.L64S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	206					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103553732	103553732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103553732G>A	uc001ktv.2	-	11	2451	c.2008C>T	c.(2008-2010)CAA>TAA	p.Q670*	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Q617*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Q617*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	670	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103559054	103559054	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103559054T>C	uc001ktv.2	-	9	1797	c.1354A>G	c.(1354-1356)ACC>GCC	p.T452A	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T399A|MGEA5_uc009xws.2_Missense_Mutation_p.T399A|MGEA5_uc001ktw.2_Missense_Mutation_p.T452A|MGEA5_uc009xwt.2_Missense_Mutation_p.T215A	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	452					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103825824	103825824	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103825824G>T	uc001kuj.2	+	1	678	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	198						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										Hermansky-Pudlak_syndrome				---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103900766	103900766	+	Missense_Mutation	SNP	C	T	T	rs17855877	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103900766C>T	uc001kum.2	+	5	2540	c.2501C>T	c.(2500-2502)CCT>CTT	p.P834L	PPRC1_uc001kun.2_Missense_Mutation_p.P714L|PPRC1_uc010qqj.1_Missense_Mutation_p.P834L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	834	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908403	103908403	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908403A>G	uc001kum.2	+	11	4608	c.4569A>G	c.(4567-4569)TCA>TCG	p.S1523S	PPRC1_uc001kun.2_Silent_p.S1401S|PPRC1_uc010qqj.1_Silent_p.S1259S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1523	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908641	103908641	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908641G>T	uc001kum.2	+	12	4724	c.4685G>T	c.(4684-4686)AGG>ATG	p.R1562M	PPRC1_uc001kun.2_Missense_Mutation_p.R1440M|PPRC1_uc010qqj.1_Missense_Mutation_p.R1298M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1562	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103918966	103918966	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103918966A>G	uc001kuo.2	+	6	859	c.624A>G	c.(622-624)AAA>AAG	p.K208K	NOLC1_uc001kup.2_Silent_p.K208K|NOLC1_uc001kuq.2_Silent_p.K209K|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	208	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920746	103920746	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103920746C>T	uc001kuo.2	+	10	1872	c.1637C>T	c.(1636-1638)GCC>GTC	p.A546V	NOLC1_uc001kup.2_Missense_Mutation_p.A556V|NOLC1_uc001kuq.2_Missense_Mutation_p.A547V|NOLC1_uc009xxb.1_Missense_Mutation_p.A265V|NOLC1_uc001kur.2_Missense_Mutation_p.A265V	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	546	Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104118448	104118448	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104118448A>G	uc001kux.1	+	10	1213	c.973A>G	c.(973-975)AGC>GGC	p.S325G	GBF1_uc001kuw.2_Missense_Mutation_p.S325G|GBF1_uc001kuy.1_Missense_Mutation_p.S325G|GBF1_uc001kuz.1_Missense_Mutation_p.S325G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	325					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
NFKB2	4791	broad.mit.edu	37	10	104157155	104157155	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104157155G>T	uc001kvb.2	+	7	757	c.492G>T	c.(490-492)CAG>CAT	p.Q164H	NFKB2_uc001kva.2_Missense_Mutation_p.Q164H|NFKB2_uc010qqk.1_Missense_Mutation_p.Q164H|NFKB2_uc001kvd.2_Missense_Mutation_p.Q164H|NFKB2_uc009xxc.2_Missense_Mutation_p.Q164H	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	164	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)				T	IGH@	B-NHL								---	---	---	---
CUEDC2	79004	broad.mit.edu	37	10	104184863	104184863	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104184863C>A	uc001kvn.2	-						CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945			CUE domain containing 2							cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
ACTR1A	10121	broad.mit.edu	37	10	104247992	104247992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104247992T>C	uc001kvv.2	-	4	338	c.230A>G	c.(229-231)CAT>CGT	p.H77R	ACTR1A_uc010qqn.1_Missense_Mutation_p.H3R|ACTR1A_uc010qqo.1_Missense_Mutation_p.H30R	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	77					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)														---	---	---	---
ARL3	403	broad.mit.edu	37	10	104445597	104445597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104445597T>C	uc001kwa.2	-	5	635	c.477A>G	c.(475-477)TCA>TCG	p.S159S		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	159	GTP (By similarity).				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104536182	104536182	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104536182T>C	uc001kwe.3	+						C10orf26_uc001kwf.3_Intron|C10orf26_uc009xxg.1_Intron	NM_017787	NP_060257			hypothetical protein LOC54838 isoform 2							integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104557771	104557771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104557771A>G	uc001kwe.3	+	2	309	c.49A>G	c.(49-51)ACC>GCC	p.T17A	C10orf26_uc001kwf.3_Missense_Mutation_p.T38A|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	17						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104622686	104622686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104622686A>G	uc001kwj.2	+	5	403	c.4A>G	c.(4-6)ACA>GCA	p.T2A	C10orf32_uc001kwh.2_3'UTR|C10orf32_uc001kwi.2_3'UTR	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	Error:Variant_position_missing_in_Q9HBK9_after_alignment					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679501	104679501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679501G>A	uc001kwm.2	+	1	1388	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	CNNM2_uc001kwn.2_Missense_Mutation_p.D422N|CNNM2_uc001kwl.2_Missense_Mutation_p.D422N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	422	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104836918	104836918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104836918A>G	uc001kwm.2	+	8	2733	c.2609A>G	c.(2608-2610)CAC>CGC	p.H870R	CNNM2_uc001kwn.2_Missense_Mutation_p.H848R	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	870					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
INA	9118	broad.mit.edu	37	10	105037837	105037837	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105037837A>C	uc001kws.2	+	1	918	c.869A>C	c.(868-870)AAG>ACG	p.K290T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.K290T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105143129	105143129	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105143129A>G	uc001kwv.2	+						TAF5_uc010qqq.1_Intron	NM_006951	NP_008882			TBP-associated factor 5						histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105185263	105185263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105185263C>T	uc001kwy.1	+	20	3373	c.3286C>T	c.(3286-3288)CGA>TGA	p.R1096*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1096	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105203692	105203692	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105203692C>T	uc001kwy.1	+	34	5232	c.5145C>T	c.(5143-5145)AAC>AAT	p.N1715N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1715	HAT 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105677279	105677279	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105677279G>A	uc001kxl.2	-	1	149	c.74C>T	c.(73-75)GCC>GTC	p.A25V	OBFC1_uc001kxm.2_Missense_Mutation_p.A25V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	25					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)														---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761204	105761204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105761204T>C	uc001kxo.1	+	8	901	c.867T>C	c.(865-867)CAT>CAC	p.H289H	SLK_uc001kxp.1_Silent_p.H289H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	289	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105799267	105799267	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105799267A>C	uc001kxr.2	-	43	3001	c.2832T>G	c.(2830-2832)TCT>TCG	p.S944S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	944	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815736	105815736	+	Silent	SNP	C	T	T	rs143263539		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105815736C>T	uc001kxr.2	-	18	1660	c.1491G>A	c.(1489-1491)GCG>GCA	p.A497A	COL17A1_uc010qqv.1_Silent_p.A481A	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	497	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105817937	105817937	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105817937T>A	uc001kxr.2	-	16	1403	c.1234A>T	c.(1234-1236)ACT>TCT	p.T412S	COL17A1_uc010qqv.1_Missense_Mutation_p.T396S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	412	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105903402	105903402	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105903402T>C	uc001kxw.2	-						C10orf79_uc009xxq.2_Intron	NM_025145	NP_079421			hypothetical protein LOC80217												0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105920858	105920858	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105920858T>C	uc001kxw.2	-	27	3593	c.3477A>G	c.(3475-3477)AAA>AAG	p.K1159K	C10orf79_uc009xxq.2_Silent_p.K467K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1159	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106602578	106602578	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106602578A>G	uc001kyi.1	+	2	883	c.656A>G	c.(655-657)GAC>GGC	p.D219G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	219	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)														---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108339123	108339123	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108339123G>A	uc001kym.2	-						SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_Intron|SORCS1_uc001kyo.2_Silent_p.C1125C	NM_052918	NP_443150			SORCS receptor 1 isoform a							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111642211	111642211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111642211A>G	uc001kyp.1	-	10	1031	c.891T>C	c.(889-891)GCT>GCC	p.A297A	XPNPEP1_uc009xxt.1_Silent_p.A340A|XPNPEP1_uc001kyq.1_Silent_p.A226A|XPNPEP1_uc010qrb.1_Silent_p.A340A|XPNPEP1_uc010qra.1_Silent_p.A64A	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111876060	111876060	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111876060T>A	uc001kyt.3	+	5	692	c.378T>A	c.(376-378)GAT>GAA	p.D126E	ADD3_uc001kys.3_Missense_Mutation_p.D126E|ADD3_uc001kyu.2_Missense_Mutation_p.D126E|ADD3_uc001kyv.2_Missense_Mutation_p.D126E|ADD3_uc001kyw.2_Missense_Mutation_p.D126E	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	126						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111879279	111879279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111879279C>T	uc001kyt.3	+	9	1231	c.917C>T	c.(916-918)GCT>GTT	p.A306V	ADD3_uc001kys.3_Missense_Mutation_p.A306V|ADD3_uc001kyu.2_Missense_Mutation_p.A306V|ADD3_uc001kyv.2_Missense_Mutation_p.A306V|ADD3_uc001kyw.2_Missense_Mutation_p.A306V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	306						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
SMNDC1	10285	broad.mit.edu	37	10	112053968	112053968	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112053968T>G	uc001kzc.3	-	6	859	c.657A>C	c.(655-657)AAA>AAC	p.K219N	SMNDC1_uc001kzb.2_Missense_Mutation_p.K140N	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	219					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)														---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112266745	112266745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112266745C>T	uc001kzd.2	+	3	836	c.581C>T	c.(580-582)GCA>GTA	p.A194V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	194	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112349459	112349459	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112349459G>T	uc001kze.2	+	14	1528	c.1402G>T	c.(1402-1404)GAA>TAA	p.E468*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	468	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112352988	112352988	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112352988A>G	uc001kze.2	+							NM_005445	NP_005436			structural maintenance of chromosomes 3						cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112357915	112357915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112357915A>G	uc001kze.2	+	20	2261	c.2135A>G	c.(2134-2136)GAT>GGT	p.D712G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	712	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SHOC2	8036	broad.mit.edu	37	10	112769025	112769025	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112769025A>T	uc001kzl.3	+	7	1653	c.1304A>T	c.(1303-1305)AAT>ATT	p.N435I	SHOC2_uc009xxx.2_Missense_Mutation_p.N435I|SHOC2_uc010qrg.1_Missense_Mutation_p.N74I|SHOC2_uc001kzn.2_Missense_Mutation_p.N389I	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	435	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115375543	115375543	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115375543C>A	uc001laj.2	-	27	3170	c.3006G>T	c.(3004-3006)AAG>AAT	p.K1002N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.K967N|NRAP_uc001lal.3_Missense_Mutation_p.K1002N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1002	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115411615	115411615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115411615C>T	uc001laj.2	-	7	786	c.622G>A	c.(622-624)GTG>ATG	p.V208M	NRAP_uc001lak.2_Missense_Mutation_p.V208M|NRAP_uc001lal.3_Missense_Mutation_p.V208M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	208	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115639443	115639443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115639443C>A	uc001lax.1	+	4	1110	c.898C>A	c.(898-900)CTT>ATT	p.L300I		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	300	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)														---	---	---	---
ADRB1	153	broad.mit.edu	37	10	115804281	115804281	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115804281C>A	uc001lba.2	+	1	476	c.390C>A	c.(388-390)TTC>TTA	p.F130L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	130	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)													---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116038533	116038533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116038533G>A	uc001lbl.1	+	8	1077	c.756G>A	c.(754-756)GAG>GAA	p.E252E	VWA2_uc001lbk.1_Silent_p.E252E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	252						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116046101	116046101	+	Silent	SNP	C	T	T	rs145894848		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116046101C>T	uc001lbl.1	+	11	1722	c.1401C>T	c.(1399-1401)CAC>CAT	p.H467H	VWA2_uc001lbk.1_Silent_p.H467H|VWA2_uc009xyf.1_Silent_p.H163H	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	467	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116245123	116245123	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116245123C>T	uc010qsg.1	-						ABLIM1_uc010qsh.1_Missense_Mutation_p.R293H|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Missense_Mutation_p.R287H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R37H|ABLIM1_uc009xyn.2_Intron|ABLIM1_uc010qsj.1_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116595304	116595304	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116595304G>A	uc001lcb.2	+	4	638	c.303G>A	c.(301-303)CCG>CCA	p.P101P	FAM160B1_uc001lcc.2_Silent_p.P101P	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	101										lung(1)	1																		---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116608429	116608429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116608429A>G	uc001lcb.2	+	13	2071	c.1736A>G	c.(1735-1737)GAC>GGC	p.D579G	FAM160B1_uc001lcc.2_Missense_Mutation_p.D579G	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	579										lung(1)	1																		---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117154195	117154195	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117154195A>T	uc001lcg.2	+	20	3588	c.3202A>T	c.(3202-3204)ATC>TTC	p.I1068F	ATRNL1_uc010qsm.1_Missense_Mutation_p.I197F|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1068	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118368620	118368620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118368620C>T	uc001lco.1	+	13	1414	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P466S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	466	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118380487	118380487	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118380487C>T	uc001lcq.2	+	1					PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387			pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118394418	118394418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118394418A>G	uc001lcq.2	+	11	910	c.887A>G	c.(886-888)AAC>AGC	p.N296S	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	295					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118439134	118439134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118439134C>T	uc001lct.2	-	10	1271	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R306H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	389							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118464750	118464750	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118464750G>A	uc001lct.2	-	3	271	c.166C>T	c.(166-168)CTC>TTC	p.L56F	HSPA12A_uc001lcu.2_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	56							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
KIAA1598	57698	broad.mit.edu	37	10	118719729	118719729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118719729A>G	uc009xyw.2	-	4	683	c.185T>C	c.(184-186)GTC>GCC	p.V62A	KIAA1598_uc001lcz.3_Missense_Mutation_p.V62A|KIAA1598_uc010qso.1_Missense_Mutation_p.V2A|KIAA1598_uc010qsp.1_Missense_Mutation_p.V62A|KIAA1598_uc010qsq.1_Missense_Mutation_p.V2A|KIAA1598_uc001lcy.3_Missense_Mutation_p.V32A	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	62	Potential.				axon guidance	axon					0				all cancers(201;0.00494)														---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969029	118969029	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118969029T>G	uc010qsr.1	+	3	374	c.374T>G	c.(373-375)GTC>GGC	p.V125G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)														---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119799972	119799972	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119799972T>C	uc001ldj.1	-	2	898	c.458A>G	c.(457-459)GAC>GGC	p.D153G	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.D153G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	153					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120810101	120810101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120810101C>T	uc001ldu.2	-	16	2551	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	EIF3A_uc010qsu.1_Missense_Mutation_p.R768H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	802	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120818859	120818859	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120818859A>G	uc001ldu.2	-	11	1640	c.1494T>C	c.(1492-1494)AAT>AAC	p.N498N	EIF3A_uc010qsu.1_Silent_p.N464N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	498					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121582627	121582627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121582627C>T	uc001leo.2	+	18	2243	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	INPP5F_uc001lep.2_Nonsense_Mutation_p.R83*	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	693							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)														---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123247527	123247527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123247527T>C	uc010qtk.1	-	15	2611	c.1964A>G	c.(1963-1965)GAC>GGC	p.D655G	FGFR2_uc010qtg.1_Missense_Mutation_p.D543G|FGFR2_uc010qth.1_Missense_Mutation_p.D540G|FGFR2_uc010qti.1_Missense_Mutation_p.D566G|FGFR2_uc010qtj.1_Missense_Mutation_p.D656G|FGFR2_uc010qtl.1_Missense_Mutation_p.D539G|FGFR2_uc010qtm.1_Missense_Mutation_p.D538G|FGFR2_uc001lfl.3_Missense_Mutation_p.D656G|FGFR2_uc001lfm.2_Missense_Mutation_p.D567G|FGFR2_uc001lfg.3_Missense_Mutation_p.D263G	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	655	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123810012	123810012	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123810012A>G	uc001lfv.2	+	3	453	c.93A>G	c.(91-93)ATA>ATG	p.I31M	TACC2_uc001lfw.2_Missense_Mutation_p.I31M|TACC2_uc009xzx.2_Missense_Mutation_p.I31M|TACC2_uc010qtv.1_Missense_Mutation_p.I31M	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	31						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124248520	124248520	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124248520A>G	uc001lgj.2	+							NM_002775	NP_002766			HtrA serine peptidase 1 precursor						proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124249068	124249068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124249068G>A	uc001lgj.2	+	3	831	c.703G>A	c.(703-705)GGT>AGT	p.G235S		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	235	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124345846	124345846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358514	124358514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124358514C>T	uc001lgk.1	+	26	3287	c.3181C>T	c.(3181-3183)CGC>TGC	p.R1061C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1051C|DMBT1_uc001lgm.1_Missense_Mutation_p.R562C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061C|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1061	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124377530	124377530	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124377530T>C	uc001lgk.1	+						DMBT1_uc001lgl.1_Intron|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Intron|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568			deleted in malignant brain tumors 1 isoform b						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124396722	124396722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124396722A>G	uc001lgk.1	+	51	6555	c.6449A>G	c.(6448-6450)GAC>GGC	p.D2150G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2140G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1522G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2149G|DMBT1_uc010qtx.1_Missense_Mutation_p.D870G|DMBT1_uc009yab.1_Missense_Mutation_p.D853G|DMBT1_uc009yac.1_Missense_Mutation_p.D444G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2150	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124712522	124712522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124712522T>C	uc001lgw.2	-	2	416	c.191A>G	c.(190-192)AAC>AGC	p.N64S	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	64											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)														---	---	---	---
PSTK	118672	broad.mit.edu	37	10	124742347	124742347	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124742347C>T	uc001lgy.1	+	2	755	c.315C>T	c.(313-315)AAC>AAT	p.N105N		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	105							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124753312	124753312	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124753312T>C	uc001lha.2	-	5	1543	c.1244A>G	c.(1243-1245)CAA>CGA	p.Q415R	IKZF5_uc001lgz.2_Missense_Mutation_p.Q253R	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124758027	124758027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124758027C>T	uc001lha.2	-	3	414	c.115G>A	c.(115-117)GCA>ACA	p.A39T		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124897045	124897045	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124897045A>T	uc010quc.1	+	2	872	c.872A>T	c.(871-873)GAG>GTG	p.E291V		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	291					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---
OAT	4942	broad.mit.edu	37	10	126097538	126097538	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126097538A>G	uc001lhp.2	-						OAT_uc001lhq.2_Intron|OAT_uc001lhr.2_Intron	NM_000274	NP_000265			ornithine aminotransferase precursor						cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)													---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126662901	126662901	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126662901G>A	uc001lic.2	+	5	1732	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	ZRANB1_uc010qug.1_Missense_Mutation_p.G480D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	454	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126683094	126683094	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126683094G>A	uc009yak.2	-	7	1011	c.724C>T	c.(724-726)CAC>TAC	p.H242Y	CTBP2_uc009yal.2_Missense_Mutation_p.H242Y|CTBP2_uc001lif.3_Missense_Mutation_p.H242Y|CTBP2_uc001lih.3_Missense_Mutation_p.H242Y|CTBP2_uc001lid.3_Missense_Mutation_p.H310Y|CTBP2_uc001lie.3_Missense_Mutation_p.H782Y	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	242					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126716040	126716040	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126716040C>A	uc009yak.2	-						CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron|CTBP2_uc001lie.3_Missense_Mutation_p.A97S	NM_001329	NP_001320			C-terminal binding protein 2 isoform 1						negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
C10orf137	26098	broad.mit.edu	37	10	127422661	127422661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127422661T>A	uc001liq.1	+	12	1699	c.1406T>A	c.(1405-1407)ATG>AAG	p.M469K	C10orf137_uc001lin.2_Missense_Mutation_p.M435K|C10orf137_uc001lio.1_Missense_Mutation_p.M435K|C10orf137_uc001lip.1_Missense_Mutation_p.M173K|C10orf137_uc001lir.2_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127460903	127460903	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127460903A>C	uc001liu.2	-	4	863	c.863T>G	c.(862-864)GTC>GGC	p.V288G		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	288					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127685152	127685152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127685152C>T	uc001ljh.3	+	5	536	c.432C>T	c.(430-432)GGC>GGT	p.G144G	FANK1_uc009yan.2_Silent_p.G170G|FANK1_uc001lji.2_Silent_p.G138G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	144	ANK 2.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)																---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127789653G>A	uc001ljk.2	-	9	1321	c.908C>T	c.(907-909)GCG>GTG	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.2_Missense_Mutation_p.A303V|ADAM12_uc001ljn.2_Missense_Mutation_p.A300V|ADAM12_uc001ljl.3_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	303	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128797654	128797654	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128797654A>T	uc001ljt.2	+	9	868	c.804A>T	c.(802-804)TTA>TTT	p.L268F	DOCK1_uc010qun.1_Missense_Mutation_p.L268F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	268					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128908583	128908583	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128908583T>C	uc001ljt.2	+	25	2589	c.2525T>C	c.(2524-2526)ATC>ACC	p.I842T	DOCK1_uc010qun.1_Missense_Mutation_p.I863T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	842					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128974382	128974382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2																		---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901497	129901497	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901497C>T	uc001lke.2	-	13	8802	c.8607G>A	c.(8605-8607)ACG>ACA	p.T2869T	MKI67_uc001lkf.2_Silent_p.T2509T|MKI67_uc009yav.1_Silent_p.T2444T|MKI67_uc009yaw.1_Silent_p.T2019T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2869	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901518	129901518	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901518T>C	uc001lke.2	-	13	8781	c.8586A>G	c.(8584-8586)ACA>ACG	p.T2862T	MKI67_uc001lkf.2_Silent_p.T2502T|MKI67_uc009yav.1_Silent_p.T2437T|MKI67_uc009yaw.1_Silent_p.T2012T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2862	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905845	129905845	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129905845G>C	uc001lke.2	-	13	4454	c.4259C>G	c.(4258-4260)ACA>AGA	p.T1420R	MKI67_uc001lkf.2_Missense_Mutation_p.T1060R|MKI67_uc009yav.1_Missense_Mutation_p.T995R|MKI67_uc009yaw.1_Missense_Mutation_p.T570R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1420	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129907158	129907158	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907158G>A	uc001lke.2	-	13	3141	c.2946C>T	c.(2944-2946)GGC>GGT	p.G982G	MKI67_uc001lkf.2_Silent_p.G622G|MKI67_uc009yav.1_Silent_p.G557G|MKI67_uc009yaw.1_Silent_p.G132G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	982					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131761907	131761907	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131761907G>T	uc001lki.1	-	1	185	c.126C>A	c.(124-126)GCC>GCA	p.A42A	EBF3_uc010qur.1_Silent_p.A28A	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)														---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133955535	133955535	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133955535G>A	uc001lkx.3	+	10	1585	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134017367	134017367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134017367C>T	uc009ybb.2	+	13	1717	c.1563C>T	c.(1561-1563)TCC>TCT	p.S521S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	521					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)														---	---	---	---
C10orf93	255352	broad.mit.edu	37	10	134755109	134755109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134755109A>G	uc001llt.1	-	3	368	c.292T>C	c.(292-294)TCG>CCG	p.S98P	C10orf93_uc001llu.2_Missense_Mutation_p.S98P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	98	TPR 1.						binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)														---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134898389	134898389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134898389G>A	uc001llw.2	+	8	1451	c.1451G>A	c.(1450-1452)GGG>GAG	p.G484E				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)														---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135086342	135086342	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135086342A>G	uc010qva.1	-	7	599	c.548T>C	c.(547-549)GTG>GCG	p.V183A	ADAM8_uc010quz.1_Missense_Mutation_p.V222A|ADAM8_uc009ybi.2_Missense_Mutation_p.V222A|ADAM8_uc010qvb.1_Missense_Mutation_p.V197A|ADAM8_uc009ybj.1_RNA			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	183					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135195135	135195135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135195135G>A	uc001lmv.2	+	3	920	c.840G>A	c.(838-840)GCG>GCA	p.A280A	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.A280A|PAOX_uc001lmy.2_Silent_p.A280A|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	418					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)														---	---	---	---
RIC8A	60626	broad.mit.edu	37	11	209303	209303	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:209303A>G	uc001log.2	+	2	442	c.117A>G	c.(115-117)CAA>CAG	p.Q39Q	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.Q39Q|RIC8A_uc001loh.2_Missense_Mutation_p.N3S	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	39						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293247	293247	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293247G>T	uc010qvu.1	+						ATHL1_uc001lor.3_Intron|ATHL1_uc001los.1_Intron|ATHL1_uc001lou.3_Intron|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368			ATH1, acid trehalase-like 1						carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293611	293611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293611G>A	uc010qvu.1	+	10	1613	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	ATHL1_uc001lor.3_Intron|ATHL1_uc001lou.3_Missense_Mutation_p.A75T|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	500				EFDGYEPGEVVKQA -> KFQLRVPWEDFFRC (in Ref. 3; BAB15431).	carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
IFITM1	8519	broad.mit.edu	37	11	314932	314932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:314932G>A	uc001loy.3	+	2	377	c.197G>A	c.(196-198)AGG>AAG	p.R66K		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	66	Cytoplasmic (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	582040	582040	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:582040A>G	uc001lqe.2	+	3	304	c.173A>G	c.(172-174)GAC>GGC	p.D58G	PHRF1_uc010qwc.1_Missense_Mutation_p.D58G|PHRF1_uc010qwd.1_Missense_Mutation_p.D57G|PHRF1_uc010qwe.1_Missense_Mutation_p.D54G	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	58							RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592628	592628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:592628A>G	uc001lqe.2	+	6	705	c.574A>G	c.(574-576)AGC>GGC	p.S192G	PHRF1_uc010qwc.1_Missense_Mutation_p.S192G|PHRF1_uc010qwd.1_Missense_Mutation_p.S191G|PHRF1_uc010qwe.1_Missense_Mutation_p.S188G|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	192	PHD-type.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	598394	598394	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:598394T>A	uc001lqe.2	+	9	1047	c.916T>A	c.(916-918)TCT>ACT	p.S306T	PHRF1_uc010qwc.1_Missense_Mutation_p.S306T|PHRF1_uc010qwd.1_Missense_Mutation_p.S305T|PHRF1_uc010qwe.1_Missense_Mutation_p.S302T|PHRF1_uc009ybz.1_Missense_Mutation_p.S97T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	306	Arg-rich.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	624878	624878	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:624878G>A	uc001lqj.2	-	1	130	c.25C>T	c.(25-27)CCT>TCT	p.P9S	CDHR5_uc001lqk.2_Missense_Mutation_p.P9S|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.P9S|CDHR5_uc001lql.2_Missense_Mutation_p.P9S|CDHR5_uc001lqm.2_5'Flank|CDHR5_uc009yce.1_Missense_Mutation_p.P9S|CDHR5_uc001lqn.1_Missense_Mutation_p.P9S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	687961	687961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:687961A>G	uc001lqq.1	-	4	1307	c.614T>C	c.(613-615)GTA>GCA	p.V205A	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	205	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)														---	---	---	---
EPS8L2	64787	broad.mit.edu	37	11	722548	722548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:722548C>T	uc001lqt.2	+	13	1454	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	EPS8L2_uc001lqu.2_Missense_Mutation_p.R403C|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419C|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358C|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	403						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	755935	755935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:755935G>A	uc001lqz.2	+	2	204	c.154G>A	c.(154-156)GCA>ACA	p.A52T	TALDO1_uc010qwl.1_Missense_Mutation_p.A52T|TALDO1_uc001lra.2_Missense_Mutation_p.A52T	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	52					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)														---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	866596	866596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:866596G>A	uc001lsd.1	+	9	892	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	TSPAN4_uc001lse.1_Missense_Mutation_p.C164Y|TSPAN4_uc001lsf.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsg.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsh.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsi.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsj.1_Missense_Mutation_p.C228Y	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	228	Cytoplasmic (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
AP2A2	161	broad.mit.edu	37	11	988613	988613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:988613G>A	uc001lss.2	+	10	1374	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	AP2A2_uc001lst.1_Missense_Mutation_p.R399H|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	398					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1027755	1027755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1027755G>A	uc001lsw.2	-	16	1962	c.1911C>T	c.(1909-1911)GGC>GGT	p.G637G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	637					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1086052	1086052	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1086052G>A	uc001lsx.1	+	22	2919	c.2892G>A	c.(2890-2892)ACG>ACA	p.T964T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093612	1093612	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1093612C>A	uc001lsx.1	+	31	12544	c.12517C>A	c.(12517-12519)CCA>ACA	p.P4173T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4173						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1155730	1155730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1155730G>A	uc009ycr.1	+	5	544	c.418G>A	c.(418-420)GTG>ATG	p.V140M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1214834	1214834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1214834G>A	uc009ycr.1	+						uc001lsz.2_RNA	NM_017511	NP_059981			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264269	1264269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1264269T>C	uc009ycr.1	+	47	8364	c.8238T>C	c.(8236-8238)ACT>ACC	p.T2746T	MUC5B_uc001ltb.2_Silent_p.T2056T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2053	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265019	1265019	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1265019G>A	uc009ycr.1	+	48	8949	c.8823G>A	c.(8821-8823)TCG>TCA	p.S2941S	MUC5B_uc001ltb.2_Silent_p.S2306S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2303	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1270634	1270634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1270634G>A	uc009ycr.1	+	51	14069	c.13943G>A	c.(13942-13944)CGT>CAT	p.R4648H	MUC5B_uc001ltb.2_Missense_Mutation_p.R4178H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4175	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 7.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273599	1273599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1273599C>T	uc009ycr.1	+	53	15982	c.15856C>T	c.(15856-15858)CGA>TGA	p.R5286*	MUC5B_uc001ltb.2_Nonsense_Mutation_p.R4967*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4964					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2154747	2154747	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2154747C>T	uc009yde.2	-	3	409	c.306G>A	c.(304-306)CCG>CCA	p.P102P	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.P102P|IGF2_uc009ydf.2_Silent_p.P158P|IGF2_uc001lvh.2_Silent_p.P102P|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)														---	---	---	---
TH	7054	broad.mit.edu	37	11	2186545	2186545	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2186545C>A	uc001lvq.2	-	13	1363	c.1344G>T	c.(1342-1344)GCG>GCT	p.A448A	TH_uc001lvp.2_Silent_p.A444A|TH_uc001lvr.2_Silent_p.A417A|TH_uc010qxj.1_Silent_p.A421A|TH_uc001lvs.2_Silent_p.A323A|TH_uc001lvt.2_Silent_p.A327A	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	448					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
TH	7054	broad.mit.edu	37	11	2189370	2189370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2189370C>T	uc001lvq.2	-	5	639	c.620G>A	c.(619-621)TGT>TAT	p.C207Y	TH_uc001lvp.2_Missense_Mutation_p.C203Y|TH_uc001lvr.2_Missense_Mutation_p.C176Y|TH_uc010qxj.1_Missense_Mutation_p.C180Y|TH_uc001lvs.2_Missense_Mutation_p.C176Y|TH_uc001lvt.2_Missense_Mutation_p.C180Y|TH_uc009ydh.1_RNA	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	207					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
CARS	833	broad.mit.edu	37	11	3048007	3048007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3048007A>G	uc001lxh.2	-	9	877	c.803T>C	c.(802-804)GTC>GCC	p.V268A	CARS_uc001lxe.2_Missense_Mutation_p.V258A|CARS_uc001lxf.2_Missense_Mutation_p.V351A|CARS_uc001lxg.2_Missense_Mutation_p.V268A|CARS_uc010qxo.1_Missense_Mutation_p.V351A|CARS_uc010qxp.1_Missense_Mutation_p.V281A|uc001lxi.1_5'Flank	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	268					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	p.V268L(1)	CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)			T	ALK	ALCL								---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3141815	3141815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3141815C>T	uc001lxk.2	-	6	600	c.442G>A	c.(442-444)GTG>ATG	p.V148M	OSBPL5_uc010qxq.1_Missense_Mutation_p.V100M|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.V172M	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	148	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)														---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249355	3249355	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3249355G>A	uc001lxq.3	-	2	982	c.672C>T	c.(670-672)CTC>CTT	p.L224L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	224	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3700923	3700923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3700923T>C	uc001lyh.2	-	31	5225	c.4934A>G	c.(4933-4935)GAG>GGG	p.E1645G	NUP98_uc001lyi.2_Missense_Mutation_p.E1571G|NUP98_uc001lyg.2_Missense_Mutation_p.E610G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1662					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3838588G>A	uc001lys.2	+	3	297	c.171G>A	c.(169-171)ACG>ACA	p.T57T	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Silent_p.T114T|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	57					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																		---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3845574	3845574	+	Missense_Mutation	SNP	C	T	T	rs144767060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3845574C>T	uc001lys.2	+	5	802	c.676C>T	c.(676-678)CGG>TGG	p.R226W	PGAP2_uc001lyl.2_Missense_Mutation_p.R183W|PGAP2_uc010qxw.1_Missense_Mutation_p.R283W|PGAP2_uc010qxx.1_Missense_Mutation_p.A206V|PGAP2_uc001lyp.3_Missense_Mutation_p.A92V|PGAP2_uc010qxy.1_Missense_Mutation_p.R222W|PGAP2_uc010qxz.1_Missense_Mutation_p.R222W|PGAP2_uc001lyn.3_Missense_Mutation_p.A118V|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R165W|PGAP2_uc010qyb.1_Missense_Mutation_p.A168V|PGAP2_uc001lyt.2_Missense_Mutation_p.R9W	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	226					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4112932	4112932	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4112932T>A	uc001lyv.2	+	12	2530	c.1962T>A	c.(1960-1962)GCT>GCA	p.A654A	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.A481A|RRM1_uc009yeh.1_5'Flank|RRM1_uc001lyw.3_5'Flank|RRM1_uc009yei.2_5'Flank|RRM1_uc010qyc.1_5'Flank	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	654	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)														---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4139675	4139675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4139675G>A	uc001lyw.3	+	8	1095	c.776G>A	c.(775-777)GGC>GAC	p.G259D	RRM1_uc009yej.2_RNA|RRM1_uc009yeh.1_Missense_Mutation_p.G162D|RRM1_uc009yei.2_Missense_Mutation_p.G219D|RRM1_uc010qyc.1_Missense_Mutation_p.G162D|RRM1_uc010qyd.1_5'UTR	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	259					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)													---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4409705T>C	uc001lyy.1	-	4	673	c.560A>G	c.(559-561)AAC>AGC	p.N187S		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	187	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4410964	4410964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4410964C>T	uc001lyy.1	-	3	537	c.424G>A	c.(424-426)GCA>ACA	p.A142T		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	142	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4511027	4511027	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4511027G>A	uc001lza.1	+	1	897	c.897G>A	c.(895-897)AAG>AAA	p.K299K		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615383	4615383	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4615383T>C	uc010qyi.1	+	1	115	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615865	4615865	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4615865C>A	uc010qyi.1	+	1	597	c.597C>A	c.(595-597)AGC>AGA	p.S199R		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4621846	4621846	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4621846C>A	uc001lzf.1	-	7	1356	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	TRIM68_uc001lzg.1_Missense_Mutation_p.G150V|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	373	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825366	4825366	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825366G>T	uc010qym.1	-	1	482	c.482C>A	c.(481-483)CCT>CAT	p.P161H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4870066	4870066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4870066C>T	uc010qyo.1	-	1	373	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903898	4903898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4903898C>A	uc010qyp.1	+	1	850	c.850C>A	c.(850-852)CTG>ATG	p.L284M		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945098	4945098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4945098T>C	uc010qyr.1	-	1	472	c.472A>G	c.(472-474)ATC>GTC	p.I158V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967485	4967485	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4967485T>C	uc010qys.1	-	1	846	c.846A>G	c.(844-846)CTA>CTG	p.L282L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A2	401667	broad.mit.edu	37	11	4976522	4976522	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4976522A>T	uc010qyt.1	-	1	422	c.422T>A	c.(421-423)GTC>GAC	p.V141D		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5009533	5009533	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5009533T>C	uc001lzv.2	+	1	110	c.92T>C	c.(91-93)TTT>TCT	p.F31S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	31					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5013200	5013200	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5013200A>T	uc001lzv.2	+	5	620	c.602A>T	c.(601-603)AAT>ATT	p.N201I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	201					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020602	5020602	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5020602T>C	uc010qyu.1	+	1	390	c.390T>C	c.(388-390)CAT>CAC	p.H130H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142602	5142602	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5142602C>T	uc001lzz.1	-	1	207	c.207G>A	c.(205-207)ACG>ACA	p.T69T	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221892	5221892	+	Silent	SNP	A	G	G	rs145244038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5221892A>G	uc010qyz.1	-	1	39	c.39T>C	c.(37-39)CCT>CCC	p.P13P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5444364	5444364	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5444364A>G	uc010qzd.1	+	1	934	c.934A>G	c.(934-936)AAA>GAA	p.K312E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510093	5510093	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5510093G>T	uc010qzg.1	+	1	157	c.157G>T	c.(157-159)GCC>TCC	p.A53S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530154	5530154	+	Missense_Mutation	SNP	T	C	C	rs141351264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5530154T>C	uc001may.1	-	2	721	c.635A>G	c.(634-636)AAC>AGC	p.N212S	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	212										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602252	5602252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602252T>A	uc010qzi.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602389	5602389	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602389A>G	uc010qzi.1	+	1	283	c.283A>G	c.(283-285)ACC>GCC	p.T95A	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602413	5602413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602413G>A	uc010qzi.1	+	1	307	c.307G>A	c.(307-309)GCC>ACC	p.A103T	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5626558	5626558	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5626558T>C	uc001mbc.1	+						HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'UTR|TRIM6_uc009yep.1_5'Flank	NM_058166	NP_477514			tripartite motif-containing 6 isoform 2						protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)												OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5700312	5700312	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5700312A>G	uc001mbm.1	-	3	762	c.505T>C	c.(505-507)TCC>CCC	p.S169P	TRIM5_uc001mbq.1_Missense_Mutation_p.S169P|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S169P|TRIM5_uc001mbo.2_Missense_Mutation_p.S169P|TRIM5_uc001mbp.2_Missense_Mutation_p.S169P	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	169	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)														---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905954	5905954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905954T>C	uc010qzs.1	+	1	432	c.432T>C	c.(430-432)AGT>AGC	p.S144S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007329	6007329	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007329G>T	uc001mcd.2	-	1	887	c.832C>A	c.(832-834)CTC>ATC	p.L278I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	278	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048082	6048082	+	Missense_Mutation	SNP	C	T	T	rs139101039	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6048082C>T	uc010qzw.1	-	1	853	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6239971	6239971	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6239971C>T	uc001mcl.3	-	8	1653	c.1294G>A	c.(1294-1296)GTT>ATT	p.V432I	FAM160A2_uc001mck.3_Missense_Mutation_p.V432I|FAM160A2_uc001mcm.2_Missense_Mutation_p.V432I	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	432					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6292256	6292256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6292256A>G	uc001mcp.2	+	5	1020	c.827A>G	c.(826-828)AAC>AGC	p.N276S	CCKBR_uc001mcq.2_Missense_Mutation_p.N204S|CCKBR_uc001mcr.2_Missense_Mutation_p.N276S|CCKBR_uc001mcs.2_Missense_Mutation_p.N345S|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	276	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)													---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6486843	6486843	+	Missense_Mutation	SNP	C	T	T	rs146379181		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6486843C>T	uc001mdh.2	-	3	470	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	TRIM3_uc001mdi.2_Missense_Mutation_p.R28Q|TRIM3_uc010raj.1_Intron|TRIM3_uc009yfd.2_Missense_Mutation_p.R28Q|TRIM3_uc010rak.1_Missense_Mutation_p.R28Q|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	28	RING-type.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TPP1	1200	broad.mit.edu	37	11	6638383	6638383	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6638383C>T	uc001mel.1	-	6	571	c.510G>A	c.(508-510)GTG>GTA	p.V170V	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	170					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)														---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661560	6661560	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6661560G>A	uc001mem.1	-	2	1695	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	429	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6806618	6806618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6806618T>C	uc001mer.1	+	1	350	c.350T>C	c.(349-351)TTC>TCC	p.F117S		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891104	6891104	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6891104C>A	uc001meu.1	+	1	119	c.119C>A	c.(118-120)CCC>CAC	p.P40H		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	40	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021635	7021635	+	Missense_Mutation	SNP	A	T	T	rs113759066		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7021635A>T	uc001mfa.2	-	3	1582	c.1279T>A	c.(1279-1281)TCA>ACA	p.S427T	ZNF214_uc010ray.1_Missense_Mutation_p.S427T|ZNF214_uc009yfh.1_Missense_Mutation_p.S427T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	427	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)														---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7081168	7081168	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7081168T>A	uc001mfb.1	+	9	3000	c.2677T>A	c.(2677-2679)TCA>ACA	p.S893T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	893	LRR 6.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7439228	7439228	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7439228A>T	uc001mfe.2	+	5	1443	c.1206A>T	c.(1204-1206)CGA>CGT	p.R402R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	402	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7631603	7631603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7631603G>A	uc001mfj.3	+	6	956	c.568G>A	c.(568-570)GGC>AGC	p.G190S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.G113S|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.G113S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.G32S|PPFIBP2_uc010rbe.1_Missense_Mutation_p.G78S|PPFIBP2_uc001mfl.3_Missense_Mutation_p.G47S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	190	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7672093	7672093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7672093T>C	uc001mfj.3	+	22	2532	c.2144T>C	c.(2143-2145)GTT>GCT	p.V715A	PPFIBP2_uc010rbb.1_Missense_Mutation_p.V638A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.V649A|PPFIBP2_uc010rbe.1_Missense_Mutation_p.V603A|PPFIBP2_uc001mfl.3_Missense_Mutation_p.V572A|PPFIBP2_uc009yfj.1_Missense_Mutation_p.V359A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	715					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7686758	7686758	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7686758G>T	uc001mfm.2	-	9	916	c.678C>A	c.(676-678)GGC>GGA	p.G226G	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.G226G	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	226					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)												OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7693999	7693999	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7693999G>A	uc001mfm.2	-	2	296	c.58C>T	c.(58-60)CTG>TTG	p.L20L	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.L20L|CYB5R2_uc009yfl.1_Silent_p.L20L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	20	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817752	7817752	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7817752C>T	uc001mfp.1	-	1	738	c.738G>A	c.(736-738)CTG>CTA	p.L246L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P3	120066	broad.mit.edu	37	11	7846735	7846735	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7846735G>T	uc010rbg.1	-	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161632	8161632	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8161632T>C	uc001mgd.2	-	2	287	c.233A>G	c.(232-234)AAG>AGG	p.K78R	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78R|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28R|RIC3_uc010rbm.1_Missense_Mutation_p.K78R|RIC3_uc009yfm.2_Missense_Mutation_p.K78R|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78R	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
LMO1	4004	broad.mit.edu	37	11	8251944	8251944	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8251944G>A	uc001mgg.1	-	2	630	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.H44Y	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	45	LIM zinc-binding 1.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)				T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							---	---	---	---
RPL27A	6157	broad.mit.edu	37	11	8706989	8706989	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8706989G>A	uc001mgs.3	+						SNORA45_uc001mgr.1_RNA	NM_000990	NP_000981			ribosomal protein L27a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
C11orf17	56672	broad.mit.edu	37	11	8940962	8940962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8940962A>G	uc001mgx.2	+	6	644	c.568A>G	c.(568-570)ACC>GCC	p.T190A	C11orf17_uc001mgz.2_Missense_Mutation_p.T163A|C11orf17_uc001mgy.2_Missense_Mutation_p.T163A|C11orf17_uc001mha.2_Missense_Mutation_p.T190A	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	chromosome 11 open reading frame 17	190						nucleus	protein binding				0				Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9077338	9077338	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9077338A>G	uc001mhh.1	-	10	1287	c.1207_splice	c.e10+1	p.D403_splice	SCUBE2_uc001mhi.1_Splice_Site_p.D403_splice|SCUBE2_uc001mhj.1_Splice_Site_p.D403_splice	NM_020974	NP_066025			CEGP1 protein precursor							extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9879811	9879811	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9879811C>A	uc001mib.2	-	18	2200	c.2062G>T	c.(2062-2064)GCC>TCC	p.A688S	SBF2_uc001mif.3_Missense_Mutation_p.A444S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	688					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9989942	9989942	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9989942G>C	uc001mib.2	-	14	1684	c.1546C>G	c.(1546-1548)CCT>GCT	p.P516A	SBF2_uc001mif.3_Missense_Mutation_p.P272A|SBF2_uc001mih.3_Missense_Mutation_p.P45A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	516					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
LYVE1	10894	broad.mit.edu	37	11	10585563	10585563	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10585563C>T	uc001miv.2	-	3	607	c.321G>A	c.(319-321)GGG>GGA	p.G107G	uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	107	Link.|Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)														---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10823150	10823150	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10823150G>A	uc001mjc.2	-						EIF4G2_uc001mjb.2_Intron|EIF4G2_uc009ygf.2_Intron|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.2_RNA	NM_001418	NP_001409			eukaryotic translation initiation factor 4						cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
USP47	55031	broad.mit.edu	37	11	11944340	11944340	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:11944340A>T	uc001mjq.1	+	12	2111	c.1348A>T	c.(1348-1350)ATG>TTG	p.M450L	USP47_uc001mjr.2_Missense_Mutation_p.M362L|USP47_uc001mjs.2_Missense_Mutation_p.M430L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	450					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12315220	12315220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12315220A>G	uc001mkg.1	+	3	533	c.242A>G	c.(241-243)TAT>TGT	p.Y81C		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316135	12316135	+	Missense_Mutation	SNP	C	T	T	rs112851920		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12316135C>T	uc001mkg.1	+	3	1448	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	386					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13388247	13388247	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13388247G>A	uc001mkr.2	+	11	996	c.588G>A	c.(586-588)CTG>CTA	p.L196L	ARNTL_uc001mko.2_Silent_p.L153L|ARNTL_uc001mkp.2_Silent_p.L196L|ARNTL_uc001mkq.2_Silent_p.L196L|ARNTL_uc001mks.2_Silent_p.L153L|ARNTL_uc001mkt.2_Silent_p.L196L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.L153L|ARNTL_uc001mkv.1_Silent_p.L153L|ARNTL_uc001mkw.2_Silent_p.L153L|ARNTL_uc001mkx.2_Silent_p.L194L	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	196	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)														---	---	---	---
FAR1	84188	broad.mit.edu	37	11	13729544	13729544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13729544T>C	uc001mld.2	+	4	618	c.463T>C	c.(463-465)TAT>CAT	p.Y155H	FAR1_uc009ygp.2_Missense_Mutation_p.Y155H	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	155					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14502603	14502603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14502603T>C	uc001mli.2	-	9	1305	c.998A>G	c.(997-999)GAC>GGC	p.D333G	COPB1_uc001mlg.2_Missense_Mutation_p.D333G|COPB1_uc001mlh.2_Missense_Mutation_p.D333G	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	333	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14508019	14508019	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14508019C>T	uc001mli.2	-	7	1038	c.731G>A	c.(730-732)CGT>CAT	p.R244H	COPB1_uc001mlg.2_Missense_Mutation_p.R244H|COPB1_uc001mlh.2_Missense_Mutation_p.R244H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	244	HEAT 3.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808106	14808106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14808106A>G	uc001mln.2	+	3	1506	c.1153A>G	c.(1153-1155)AGC>GGC	p.S385G	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	385					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14856574	14856574	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14856574T>A	uc001mln.2	+	11	2606	c.2253T>A	c.(2251-2253)TAT>TAA	p.Y751*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.Y700*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	751	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	15994527	15994527	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:15994527C>A	uc001mme.2	-	16	2387	c.2354G>T	c.(2353-2355)AGC>ATC	p.S785I	SOX6_uc001mmd.2_Missense_Mutation_p.S748I|SOX6_uc001mmf.2_Missense_Mutation_p.S745I|SOX6_uc001mmg.2_Missense_Mutation_p.S752I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	772					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16068172	16068172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16068172C>T	uc001mme.2	-	12	1583	c.1550G>A	c.(1549-1551)CGG>CAG	p.R517Q	SOX6_uc001mmd.2_Missense_Mutation_p.R480Q|SOX6_uc001mmf.2_Missense_Mutation_p.R477Q|SOX6_uc001mmg.2_Missense_Mutation_p.R504Q	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	504					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17141478	17141478	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17141478A>G	uc001mmq.3	-	15	2767	c.2701T>C	c.(2701-2703)TAT>CAT	p.Y901H	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Y521H|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	901					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17156512	17156512	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17156512A>C	uc001mmq.3	-	10	2028	c.1962T>G	c.(1960-1962)GAT>GAG	p.D654E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D274E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D654E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	654					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17452414	17452414	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17452414T>C	uc001mnc.2	-	12	1890	c.1764A>G	c.(1762-1764)ACA>ACG	p.T588T	ABCC8_uc010rcy.1_Silent_p.T587T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	588	Helical; Name=11; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17483378	17483378	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17483378G>T	uc001mnc.2	-						ABCC8_uc010rcy.1_Intron	NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17548843	17548843	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17548843G>T	uc001mnf.2	-	5	532	c.423C>A	c.(421-423)TCC>TCA	p.S141S	USH1C_uc001mne.2_Silent_p.S141S|USH1C_uc009yhb.2_Silent_p.S141S|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.S105S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	141	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741356	17741356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17741356C>T	uc001mni.2	+	1	247	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17757940	17757940	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17757940G>A	uc001mnk.3	+	1	446	c.391G>A	c.(391-393)GCC>ACC	p.A131T	KCNC1_uc009yhc.1_Missense_Mutation_p.A131T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	131	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793578	17793578	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17793578G>A	uc001mnk.3	+	2	992	c.937G>A	c.(937-939)GTC>ATC	p.V313I	KCNC1_uc009yhc.1_Missense_Mutation_p.V313I	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	313	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18633968	18633968	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18633968A>G	uc001moy.2	-	4	1995	c.1779T>C	c.(1777-1779)GAT>GAC	p.D593D	SPTY2D1_uc010rdi.1_Silent_p.D593D	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	593	Poly-Asp.									breast(1)	1																		---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18743101	18743101	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18743101T>C	uc009yht.2	-	4	549	c.359A>G	c.(358-360)AAC>AGC	p.N120S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	120	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7																OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19259413	19259413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19259413T>G	uc001mpm.2	-	3	804	c.282A>C	c.(280-282)AAA>AAC	p.K94N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.K94N|E2F8_uc001mpo.1_Missense_Mutation_p.K94N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	94					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19261660	19261660	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19261660G>A	uc001mpm.2	-	2	531	c.9C>T	c.(7-9)AAC>AAT	p.N3N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N3N|E2F8_uc001mpo.1_Silent_p.N3N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	3					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20065572	20065572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20065572T>C	uc010rdm.1	+	14	3383	c.3022T>C	c.(3022-3024)TCT>CCT	p.S1008P	NAV2_uc001mpp.2_Missense_Mutation_p.S921P|NAV2_uc001mpr.3_Missense_Mutation_p.S985P|NAV2_uc001mpt.2_Missense_Mutation_p.S71P|NAV2_uc009yhx.2_Missense_Mutation_p.S71P|NAV2_uc009yhy.1_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1008						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070671	20070671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20070671G>A	uc010rdm.1	+	16	4730	c.4369G>A	c.(4369-4371)GCC>ACC	p.A1457T	NAV2_uc001mpp.2_Missense_Mutation_p.A1370T|NAV2_uc001mpr.3_Missense_Mutation_p.A1434T|NAV2_uc001mpt.2_Missense_Mutation_p.A520T|NAV2_uc009yhx.2_Missense_Mutation_p.A520T|NAV2_uc009yhy.1_Missense_Mutation_p.A433T|NAV2_uc009yhz.2_Missense_Mutation_p.A116T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1457	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20122624	20122624	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20122624C>G	uc001mpr.3	+	32	6693	c.6332C>G	c.(6331-6333)GCC>GGC	p.A2111G	NAV2_uc001mpp.2_Missense_Mutation_p.A2044G|NAV2_uc009yhx.2_Missense_Mutation_p.A1172G|NAV2_uc009yhz.2_Missense_Mutation_p.A753G|NAV2_uc001mpu.2_Missense_Mutation_p.A546G	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2167						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668428	20668428	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20668428C>A	uc001mqd.2	+	14	2291	c.2018C>A	c.(2017-2019)CCT>CAT	p.P673H	SLC6A5_uc009yic.2_Missense_Mutation_p.P438H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	673					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)													---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22225353	22225353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22225353A>G	uc001mqi.2	+	2	361	c.44A>G	c.(43-45)GAA>GGA	p.E15G	ANO5_uc001mqj.2_Missense_Mutation_p.E15G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	15	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22363222	22363222	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22363222C>A	uc001mqk.2	+	2	648	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	79	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4																		---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844655	22844655	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844655A>G	uc001mqp.3	-	4						NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26714070	26714070	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26714070G>A	uc001mra.2	-	9	1432	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.S373S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	373	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2																		---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27148839	27148839	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27148839G>T	uc001mre.1	+	9	1372	c.1004_splice	c.e9-1	p.G335_splice	BBOX1_uc009yih.1_Splice_Site_p.G335_splice|BBOX1_uc001mrg.1_Splice_Site_p.G335_splice	NM_003986	NP_003977			gamma-butyrobetaine dioxygenase						carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27395180	27395180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27395180G>T	uc001mrj.3	-	15	1782	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	LGR4_uc001mrk.3_Missense_Mutation_p.L409M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	433	LRR 15.|Extracellular (Potential).			L -> P (in Ref. 1; AAF68989).		integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1																		---	---	---	---
C11orf46	120534	broad.mit.edu	37	11	30358350	30358350	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30358350T>C	uc001mso.1	+	4					C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529			hypothetical protein LOC120534												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	30937073	30937073	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30937073T>A	uc001mss.1	-	5		c.741A>T			uc009yjk.1_Missense_Mutation_p.H661L					Homo sapiens mRNA for KIAA1493 protein, partial cds.																														---	---	---	---
WIT1	51352	broad.mit.edu	37	11	32460534	32460534	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32460534C>A	uc010rec.1	+	2		c.1252C>A			WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron	NR_023920				full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).												0	Breast(20;0.247)																	---	---	---	---
EIF3M	10480	broad.mit.edu	37	11	32610169	32610169	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32610169T>A	uc001mtu.2	+	3	248	c.205T>A	c.(205-207)TCC>ACC	p.S69T	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	69						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)																	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32954606	32954606	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32954606C>A	uc001mty.2	+	4	1682	c.1415C>A	c.(1414-1416)TCT>TAT	p.S472Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	472	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33370372	33370372	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33370372C>T	uc001mul.1	+						HIPK3_uc001mum.1_Intron|HIPK3_uc009yjv.1_Intron	NM_005734	NP_005725			homeodomain interacting protein kinase 3 isoform						anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33566723	33566723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33566723A>G	uc001mup.3	+	2	2435	c.2311A>G	c.(2311-2313)AGA>GGA	p.R771G	C11orf41_uc001mun.1_Missense_Mutation_p.R771G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	765						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33581342	33581342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33581342C>T	uc001mup.3	+	6	3154	c.3030C>T	c.(3028-3030)GTC>GTT	p.V1010V	C11orf41_uc001mun.1_Silent_p.V1010V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1004						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33628237	33628237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33628237A>G	uc001mup.3	+	13	4181	c.4057A>G	c.(4057-4059)AAG>GAG	p.K1353E		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1347						integral to membrane				ovary(2)	2																		---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34144031	34144031	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34144031A>T	uc001mvk.2	+	9	1050	c.806A>T	c.(805-807)GAG>GTG	p.E269V	NAT10_uc010ren.1_Missense_Mutation_p.E197V	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	269						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)																---	---	---	---
CAT	847	broad.mit.edu	37	11	34472556	34472556	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34472556T>A	uc001mvm.2	+	3	343	c.260T>A	c.(259-261)GTC>GAC	p.V87D	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	87					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
APIP	51074	broad.mit.edu	37	11	34905014	34905014	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34905014T>C	uc001mvs.2	-	6	607	c.499A>G	c.(499-501)ACA>GCA	p.T167A	APIP_uc010reo.1_Missense_Mutation_p.T184A	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	167					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity				0	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)															---	---	---	---
CD44	960	broad.mit.edu	37	11	35198138	35198138	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35198138C>T	uc001mvu.2	+	2	518	c.84C>T	c.(82-84)TGC>TGT	p.C28C	CD44_uc001mvv.2_Silent_p.C28C|CD44_uc001mvw.2_Silent_p.C28C|CD44_uc001mvx.2_Silent_p.C28C|CD44_uc001mvy.2_Silent_p.C28C|CD44_uc001mwc.3_Silent_p.C28C|CD44_uc010rer.1_Silent_p.C28C|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	28	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35456166	35456166	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35456166G>A	uc001mwg.2	-	10	1563	c.1520C>T	c.(1519-1521)ACT>ATT	p.T507I	PAMR1_uc001mwf.2_Missense_Mutation_p.T524I|PAMR1_uc010rew.1_Missense_Mutation_p.T396I|PAMR1_uc010rex.1_Missense_Mutation_p.T467I	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	507	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513631	35513631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35513631G>A	uc001mwg.2	-	3	384	c.341C>T	c.(340-342)GCA>GTA	p.A114V	PAMR1_uc001mwf.2_Missense_Mutation_p.A114V|PAMR1_uc010rew.1_Missense_Mutation_p.A114V|PAMR1_uc010rex.1_Missense_Mutation_p.A74V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	114					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TRIM44	54765	broad.mit.edu	37	11	35747662	35747662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35747662C>T	uc001mwi.2	+	3	1245	c.938C>T	c.(937-939)GCC>GTC	p.A313V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	313	Potential.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)																---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36516539	36516539	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36516539A>G	uc001mwr.1	-	6	1005	c.665T>C	c.(664-666)CTC>CCC	p.L222P	TRAF6_uc001mws.1_Missense_Mutation_p.L222P	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	222	Interaction with TAX1BP1.|TRAF-type 2.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)																---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597940	36597940	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36597940T>C	uc001mwu.3	+	2	3210	c.3086T>C	c.(3085-3087)TTA>TCA	p.L1029S	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1029					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43413401	43413401	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43413401C>T	uc001mxi.2	+	5	576	c.562C>T	c.(562-564)CCT>TCT	p.P188S	TTC17_uc001mxh.2_Missense_Mutation_p.P188S|TTC17_uc010rfj.1_Missense_Mutation_p.P131S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	188							binding			ovary(5)	5																		---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43918844	43918844	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43918844T>A	uc001mxs.2	+						ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Intron|LOC729799_uc010rfk.1_5'Flank	NM_139178	NP_631917			AlkB homolog 3						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)								Direct_reversal_of_damage					---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44097068	44097068	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44097068G>A	uc009yks.1	+						EXT2_uc010rfo.1_5'Flank|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Intron|ACCS_uc001mxx.2_Intron	NM_001127219	NP_001120691			1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44104792	44104792	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44104792G>T	uc009yks.1	+	13	1329	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.E395D	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	395							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44129625	44129625	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44129625T>C	uc001mxz.2	+	2	697	c.363T>C	c.(361-363)TCT>TCC	p.S121S	EXT2_uc010rfo.1_Silent_p.S149S|EXT2_uc001mxy.2_Silent_p.S134S|EXT2_uc009ykt.2_Silent_p.S121S|EXT2_uc001mya.2_Silent_p.S154S	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	121	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5								Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45246062C>T	uc001myo.2	+	8	1388	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										upper_aerodigestive_tract(1)	1																		---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265608	45265608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45265608G>T	uc001myq.2	-	6	1402	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M	SYT13_uc009yku.1_Missense_Mutation_p.L282M	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	426	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671505	45671505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671505C>T	uc001mys.1	-	4	1640	c.969G>A	c.(967-969)CCG>CCA	p.P323P		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	323	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)														---	---	---	---
PEX16	9409	broad.mit.edu	37	11	45935936	45935936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45935936T>C	uc001nbu.2	-	7	937	c.625A>G	c.(625-627)ACC>GCC	p.T209A	PEX16_uc001nbt.2_Missense_Mutation_p.T209A	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	209	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)														---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45948298	45948298	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45948298C>A	uc001nbv.1	+	10	1312	c.1201C>A	c.(1201-1203)CCC>ACC	p.P401T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P370T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P401T|GYLTL1B_uc001nby.1_Missense_Mutation_p.P84T|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	401	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46105778	46105778	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46105778C>T	uc001ncc.3	-	3					PHF21A_uc001ncb.3_5'UTR|PHF21A_uc009ykx.2_5'UTR|PHF21A_uc001nce.2_5'UTR	NM_001101802	NP_001095272			BRAF35/HDAC2 complex isoform a						blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46801732	46801732	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46801732T>C	uc001ndi.1	-						CKAP5_uc009ylg.1_Intron|CKAP5_uc001ndj.1_Intron	NM_001008938	NP_001008938			colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296132	47296132	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47296132C>T	uc001ner.1	+	3	272	c.81C>T	c.(79-81)AGC>AGT	p.S27S	MADD_uc001neq.2_Silent_p.S27S|MADD_uc001nev.1_Silent_p.S27S|MADD_uc001nes.1_Silent_p.S27S|MADD_uc001net.1_Silent_p.S27S|MADD_uc009yln.1_Silent_p.S27S|MADD_uc001neu.1_Silent_p.S27S|MADD_uc001nex.2_Silent_p.S27S|MADD_uc001nez.2_Silent_p.S27S|MADD_uc001new.2_Silent_p.S27S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	27	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47371349	47371349	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47371349G>A	uc001nfa.3	-	5	685	c.630C>T	c.(628-630)CAC>CAT	p.H210H		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	210	Ig-like C2-type 1.	Zinc.			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)														---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47444219	47444219	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47444219C>A	uc001nfh.2	-	8	984	c.790G>T	c.(790-792)GGT>TGT	p.G264C	PSMC3_uc009ylr.1_Missense_Mutation_p.G222C	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47464237	47464237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47464237G>A	uc001nfi.1	-	3	875	c.661C>T	c.(661-663)CGC>TGC	p.R221C	RAPSN_uc001nfj.1_Missense_Mutation_p.R221C|RAPSN_uc009yls.1_Missense_Mutation_p.R221C	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	221	TPR 5.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47504275	47504275	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47504275A>C	uc001nfl.2	-	6	669	c.659T>G	c.(658-660)CTA>CGA	p.L220R	CELF1_uc001nfm.2_Missense_Mutation_p.L220R|CELF1_uc001nfn.2_Missense_Mutation_p.L220R|CELF1_uc001nfo.1_Missense_Mutation_p.L246R|CELF1_uc010rhm.1_Missense_Mutation_p.L219R|CELF1_uc001nfp.2_Missense_Mutation_p.L247R|CELF1_uc001nfq.1_Missense_Mutation_p.L220R|CELF1_uc001nfr.1_Missense_Mutation_p.L220R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	220					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47648651	47648651	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47648651T>C	uc010rho.1	-	10	851	c.662A>G	c.(661-663)TAT>TGT	p.Y221C	MTCH2_uc001nge.2_Missense_Mutation_p.Y94C|MTCH2_uc010rhp.1_Missense_Mutation_p.Y73C	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	221					transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47650523	47650523	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47650523G>T	uc010rho.1	-	9	804	c.615C>A	c.(613-615)ACC>ACA	p.T205T	MTCH2_uc001nge.2_Silent_p.T78T|MTCH2_uc010rhp.1_Silent_p.T57T	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	205	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47736193	47736193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47736193C>A	uc001ngg.2	-	1	110	c.10G>T	c.(10-12)GCT>TCT	p.A4S	AGBL2_uc010rhq.1_Missense_Mutation_p.A4S|AGBL2_uc001ngh.1_Missense_Mutation_p.A4S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	4					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754182	47754182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754182T>C	uc009ylv.2	-	11	1880	c.1727A>G	c.(1726-1728)AAC>AGC	p.N576S	FNBP4_uc001ngj.2_Missense_Mutation_p.N483S|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	576										ovary(1)	1																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754208	47754208	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754208G>A	uc009ylv.2	-	11	1854	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	FNBP4_uc001ngj.2_Silent_p.D474D|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	567										ovary(1)	1																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48131619	48131619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48131619G>A	uc001ngp.3	+	2	461	c.106G>A	c.(106-108)GCA>ACA	p.A36T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A36T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	36	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																OREG0020960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48146565	48146565	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48146565C>A	uc001ngp.3	+	6	1275	c.920C>A	c.(919-921)CCT>CAT	p.P307H	PTPRJ_uc001ngo.3_Missense_Mutation_p.P307H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	307	Extracellular (Potential).|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48166633	48166633	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48166633C>T	uc001ngp.3	+	14	3223	c.2868C>T	c.(2866-2868)TCC>TCT	p.S956S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	956	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48185166	48185166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48185166T>C	uc001ngp.3	+	23	4070	c.3715T>C	c.(3715-3717)TGC>CGC	p.C1239R		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1239	Tyrosine-protein phosphatase.|Substrate binding (By similarity).|Cytoplasmic (Potential).	Phosphocysteine intermediate (By similarity).		C->S: Catalytically inactive and substrate trapping with higher affinity for substrate.	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328111	48328111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48328111C>T	uc010rhu.1	+	1	337	c.337C>T	c.(337-339)CTT>TTT	p.L113F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346544	48346544	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346544G>A	uc010rhv.1	+	1	52	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168405	49168405	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49168405A>G	uc001ngy.2	-	19	2417	c.2156T>C	c.(2155-2157)GTG>GCG	p.V719A	FOLH1_uc001ngx.2_Missense_Mutation_p.W119R|FOLH1_uc001ngz.2_Missense_Mutation_p.V688A|FOLH1_uc009yly.2_Missense_Mutation_p.V704A|FOLH1_uc009ylz.2_Missense_Mutation_p.V673A|FOLH1_uc009yma.2_Missense_Mutation_p.V411A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	719	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)													---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974337	49974337	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49974337T>C	uc010rhz.1	+	1	363	c.363T>C	c.(361-363)TAT>TAC	p.Y121Y		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412149	51412149	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412149A>C	uc001nhi.1	-	1	247	c.247T>G	c.(247-249)TTA>GTA	p.L83V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412388	51412388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412388T>C	uc001nhi.1	-	1	8	c.8A>G	c.(7-9)CAG>CGG	p.Q3R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035855	55035855	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035855A>G	uc010rid.1	+							NM_024114	NP_077019			tripartite motif-containing 48							intracellular	zinc ion binding				0																		---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339641	55339641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55339641T>A	uc010rih.1	+	1	38	c.38T>A	c.(37-39)CTT>CAT	p.L13H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432731	55432731	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55432731T>G	uc001nht.3	+	3	354	c.89T>G	c.(88-90)CTT>CGT	p.L30R	OR4C6_uc010rik.1_Missense_Mutation_p.L30R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541190	55541190	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541190A>G	uc010ril.1	+	1	277	c.277A>G	c.(277-279)ACC>GCC	p.T93A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563075	55563075	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563075C>T	uc010rim.1	+	1	44	c.44C>T	c.(43-45)GCC>GTC	p.A15V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563329	55563329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563329A>G	uc010rim.1	+	1	298	c.298A>G	c.(298-300)ATG>GTG	p.M100V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579700	55579700	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579700G>T	uc001nhw.1	+	1	758	c.758G>T	c.(757-759)GGA>GTA	p.G253V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579727	55579727	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579727C>A	uc001nhw.1	+	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579836	55579836	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579836A>T	uc001nhw.1	+	1	894	c.894A>T	c.(892-894)AAA>AAT	p.K298N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587251	55587251	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587251T>A	uc010rin.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55682066	55682066	+	5'Flank	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55682066T>G	uc010rir.1	-							NM_001001960	NP_001001960			olfactory receptor, family 5, subfamily W,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703185C>T	uc010ris.1	-	1	692	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703617	55703617	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703617A>G	uc010ris.1	-	1	260	c.260T>C	c.(259-261)TTC>TCC	p.F87S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761391	55761391	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761391A>C	uc010riv.1	-	1	711	c.711T>G	c.(709-711)GCT>GCG	p.A237A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798599	55798599	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798599C>G	uc010riw.1	+	1	705	c.705C>G	c.(703-705)AGC>AGG	p.S235R		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890557	55890557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890557G>A	uc001nii.1	+	1	709	c.709G>A	c.(709-711)GCT>ACT	p.A237T		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057653	56057653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56057653C>T	uc010rje.1	-	1	886	c.886G>A	c.(886-888)GTT>ATT	p.V296I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56085879	56085879	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56085879A>G	uc010rjf.1	+	1	97	c.97A>G	c.(97-99)ATG>GTG	p.M33V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409175	56409175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409175A>G	uc001njb.1	-	1	741	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
OR9G9	504191	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56467959C>T	uc010rjn.1	+	1	96	c.96C>T	c.(94-96)GGC>GGT	p.G32G		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510828	56510828	+	Missense_Mutation	SNP	C	T	T	rs139616824		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56510828C>T	uc010rjo.1	-	1	460	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949930	56949930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949930G>A	uc001njl.1	+	1	710	c.563G>A	c.(562-564)AGC>AAC	p.S188N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	158	LRR 4.					integral to membrane					0																		---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003818	57003818	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57003818A>G	uc001njo.2	-	1	1110	c.661T>C	c.(661-663)TAC>CAC	p.Y221H	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	221	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6																		---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57068388	57068388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57068388G>A	uc001njr.2	-	9	5411	c.5099C>T	c.(5098-5100)ACG>ATG	p.T1700M	TNKS1BP1_uc001njp.2_Missense_Mutation_p.T272M|TNKS1BP1_uc001njq.2_Missense_Mutation_p.T273M|TNKS1BP1_uc001njs.2_Missense_Mutation_p.T1700M	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1700	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57076651	57076651	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57076651A>G	uc001njr.2	-	5	3846	c.3534T>C	c.(3532-3534)TCT>TCC	p.S1178S	TNKS1BP1_uc001njs.2_Silent_p.S1178S|TNKS1BP1_uc009ymd.1_Silent_p.S629S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1178	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57440666	57440666	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57440666C>T	uc001nkx.1	+	2	1360	c.104C>T	c.(103-105)ACG>ATG	p.T35M	ZDHHC5_uc001nky.1_Intron	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	35						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1																		---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971193	57971193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57971193C>T	uc010rkb.1	-	1	461	c.461G>A	c.(460-462)GGC>GAC	p.G154D		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)																---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982629	57982629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57982629C>T	uc010rkc.1	+	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)																---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57996067	57996067	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57996067T>C	uc010rkd.1	-	1	281	c.281A>G	c.(280-282)AAG>AGG	p.K94R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)																---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190409	58190409	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58190409T>C	uc010rkg.1	-	1	326	c.326A>G	c.(325-327)GAA>GGA	p.E109G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207236	58207236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58207236T>C	uc010rkh.1	-	1	389	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275329	58275329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58275329G>A	uc010rki.1	-	1	250	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
GLYAT	10249	broad.mit.edu	37	11	58478068	58478068	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58478068C>A	uc001nnb.2	-	5	638	c.483G>T	c.(481-483)AAG>AAT	p.K161N	GLYAT_uc001nnc.2_Missense_Mutation_p.K161N	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	161					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)													---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58949402	58949402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58949402A>G	uc001nns.2	+	2	659	c.402A>G	c.(400-402)GTA>GTG	p.V134V	DTX4_uc001nnr.2_Silent_p.V28V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58978613A>G	uc001nnu.3	-	1	1882	c.1726T>C	c.(1726-1728)TAT>CAT	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	576	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979219	58979219	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58979219T>C	uc001nnu.3	-	1	1276	c.1120A>G	c.(1120-1122)ACC>GCC	p.T374A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	374	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271510	59271510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59271510C>T	uc001noa.1	+	1	462	c.462C>T	c.(460-462)GTC>GTT	p.V154V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
PLAC1L	219990	broad.mit.edu	37	11	59814517	59814517	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59814517T>C	uc001nol.2	+	4	633	c.448T>C	c.(448-450)TTA>CTA	p.L150L		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	150						extracellular region				ovary(2)|skin(1)	3																		---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828798	59828798	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59828798G>A	uc001nom.2	+						MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129			membrane-spanning 4-domains, subfamily A, member							endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)																---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60264792	60264792	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60264792A>C	uc001npr.2	+	2	58	c.1A>C	c.(1-3)ATG>CTG	p.M1L	MS4A12_uc009ynb.2_Missense_Mutation_p.M1L	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60285576	60285576	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60285576T>C	uc001nps.2	+	3	343	c.20T>C	c.(19-21)ATT>ACT	p.I7T	MS4A13_uc009ync.2_Missense_Mutation_p.I7T|MS4A13_uc009ynd.2_Missense_Mutation_p.I7T	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	7	Helical; (Potential).					integral to membrane					0																		---	---	---	---
MS4A10	341116	broad.mit.edu	37	11	60559804	60559804	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60559804C>T	uc001npz.1	+							NM_206893	NP_996776			membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60609969	60609969	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60609969A>G	uc001nqa.2	+	1	541	c.372A>G	c.(370-372)GCA>GCG	p.A124A	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	124	Pro-rich.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615443	60615443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615443C>T	uc001nqa.2	+	2	974	c.805C>T	c.(805-807)CGG>TGG	p.R269W	CCDC86_uc001nqb.2_Missense_Mutation_p.R13W	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	269					interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615518	60615518	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615518C>A	uc001nqa.2	+	2	1049	c.880C>A	c.(880-882)CGC>AGC	p.R294S	CCDC86_uc001nqb.2_Missense_Mutation_p.R38S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	294	Potential.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60617771	60617771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60617771G>A	uc001nqa.2	+	4	1225	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	CCDC86_uc001nqb.2_Silent_p.P96P	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	352					interspecies interaction between organisms	nucleus					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637016	60637016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637016C>T	uc001nqd.2	+	3	345	c.325C>T	c.(325-327)CGT>TGT	p.R109C	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	109	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637914	60637914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637914C>T	uc001nqd.2	+	4	812	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	264	Extracellular (Potential).|P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60642608	60642608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60642608G>A	uc001nqd.2	+	11	1681	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ZP1_uc001nqe.2_Missense_Mutation_p.R261Q	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	554	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60689443	60689443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60689443C>T	uc001nqg.2	+	4	916	c.538C>T	c.(538-540)CCT>TCT	p.P180S	TMEM109_uc001nqh.2_Missense_Mutation_p.P180S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	180						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60703735	60703735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60703735A>G	uc001nqj.2	+	11	2621	c.2428A>G	c.(2428-2430)AAG>GAG	p.K810E	TMEM132A_uc001nqi.2_Missense_Mutation_p.K811E|TMEM132A_uc001nqm.2_Missense_Mutation_p.K20E	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	810	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60704348	60704348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60704348A>G	uc001nqj.2	+	11	3234	c.3041A>G	c.(3040-3042)AAC>AGC	p.N1014S	TMEM132A_uc001nqi.2_Missense_Mutation_p.N1015S|TMEM132A_uc001nqm.2_Missense_Mutation_p.N224S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1014	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
CD6	923	broad.mit.edu	37	11	60783197	60783197	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60783197C>A	uc001nqq.2	+	9	1623	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	CD6_uc001nqp.2_Missense_Mutation_p.P467H|CD6_uc001nqr.2_Missense_Mutation_p.P435H|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	467	Cytoplasmic (Potential).			VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1																		---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61044057	61044057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61044057T>C	uc001nra.2	-						VWCE_uc001nrb.2_Intron	NM_152718	NP_689931			von Willebrand factor C and EGF domains							extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61079550	61079550	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61079550C>T	uc001nrc.3	-	17	2302	c.2076G>A	c.(2074-2076)GCG>GCA	p.A692A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A692A	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	692	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61081422	61081422	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61081422G>A	uc001nrc.3	-	15	1999	c.1773C>T	c.(1771-1773)ATC>ATT	p.I591I	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I591I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	591	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DAK	26007	broad.mit.edu	37	11	61113377	61113377	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61113377C>A	uc001nre.2	+	17	1791	c.1534C>A	c.(1534-1536)CCA>ACA	p.P512T	DAK_uc009ynm.1_Missense_Mutation_p.P442T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	512	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0																		---	---	---	---
C11orf66	220004	broad.mit.edu	37	11	61257286	61257286	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61257286A>T	uc001nru.1	+	12	1201	c.1076A>T	c.(1075-1077)CAG>CTG	p.Q359L	C11orf66_uc009ynq.1_Missense_Mutation_p.Q339L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	359										ovary(1)	1																		---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61300478	61300478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61300478T>C	uc001nrv.2	-	4	340	c.334A>G	c.(334-336)ACC>GCC	p.T112A	SYT7_uc009ynr.2_Missense_Mutation_p.T187A	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	112	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
C11orf9	745	broad.mit.edu	37	11	61533179	61533179	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61533179C>T	uc001nsc.1	+	2	225	c.129C>T	c.(127-129)TCC>TCT	p.S43S	C11orf9_uc001nse.1_Silent_p.S34S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	43					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61615659	61615659	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61615659G>A	uc001nsl.1	+	5	797	c.647G>A	c.(646-648)CGC>CAC	p.R216H	FADS2_uc001nsj.2_Missense_Mutation_p.R194H|FADS2_uc010rlo.1_Missense_Mutation_p.R185H|FADS2_uc001nsk.2_Missense_Mutation_p.R216H	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	216	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)													---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732893	61732893	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61732893A>G	uc001nsu.2	-	2	444	c.209T>C	c.(208-210)CTG>CCG	p.L70P		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	70	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)													---	---	---	---
SCGB1D1	10648	broad.mit.edu	37	11	61959627	61959627	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61959627C>T	uc001nsz.1	+	2	202	c.155C>T	c.(154-156)CCT>CTT	p.P52L		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	52						extracellular space	binding			skin(1)	1																		---	---	---	---
SCGB2A1	4246	broad.mit.edu	37	11	61981186	61981186	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61981186T>C	uc001nta.2	+							NM_002407	NP_002398			secretoglobin, family 2A, member 1 precursor							extracellular region	androgen binding				0																		---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298283	62298283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62298283T>C	uc001ntl.2	-	5	3906	c.3606A>G	c.(3604-3606)TTA>TTG	p.L1202L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1202					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301413	62301413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62301413G>A	uc001ntl.2	-	5	776	c.476C>T	c.(475-477)GCC>GTC	p.A159V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	159					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62338549	62338549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62338549C>T	uc001ntm.1	-	5	556	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	EEF1G_uc010rlw.1_Missense_Mutation_p.R187Q|EEF1G_uc001ntn.1_Missense_Mutation_p.R17Q	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	137	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0																		---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62394111	62394111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62394111G>A	uc001nub.2	-	21	2476	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GANAB_uc001ntz.2_Nonsense_Mutation_p.R2*|GANAB_uc001nua.2_Nonsense_Mutation_p.R837*|GANAB_uc001nuc.2_Nonsense_Mutation_p.R718*|GANAB_uc010rma.1_Nonsense_Mutation_p.R723*|GANAB_uc010rmb.1_Nonsense_Mutation_p.R701*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	815					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416356	62416356	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62416356G>T	uc001nud.2	-	2	1249	c.1196C>A	c.(1195-1197)TCT>TAT	p.S399Y	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	399					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2																		---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62520498	62520498	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62520498T>A	uc001nuz.2	-	2	911	c.789A>T	c.(787-789)CCA>CCT	p.P263P		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	263	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3																		---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62569076	62569076	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62569076A>G	uc001nvf.1	-	7	803	c.667T>C	c.(667-669)TCC>CCC	p.S223P	NXF1_uc001nvg.1_Missense_Mutation_p.S223P|NXF1_uc009yog.1_Missense_Mutation_p.S266P|NXF1_uc010rmh.1_Missense_Mutation_p.S86P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	223	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3																		---	---	---	---
WDR74	54663	broad.mit.edu	37	11	62600597	62600597	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62600597G>T	uc001nvm.1	-	12	1153	c.985C>A	c.(985-987)CCC>ACC	p.P329T	STX5_uc001nvh.2_5'Flank|STX5_uc010rmi.1_5'Flank|STX5_uc009yoh.2_5'Flank|STX5_uc001nvi.2_5'Flank|STX5_uc010rmj.1_5'Flank|STX5_uc001nvj.2_5'Flank|WDR74_uc001nvk.1_Missense_Mutation_p.P272T|WDR74_uc001nvl.1_Missense_Mutation_p.P310T|WDR74_uc001nvn.1_Missense_Mutation_p.P381T|WDR74_uc009yoi.1_Missense_Mutation_p.P329T	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	WD repeat domain 74	329						nucleolus				ovary(1)	1																		---	---	---	---
CHRM1	1128	broad.mit.edu	37	11	62677758	62677758	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62677758T>G	uc001nwi.2	-	2	1216	c.815A>C	c.(814-816)TAC>TCC	p.Y272S		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	272	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)													---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63472327	63472327	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63472327C>A	uc001nxq.2	+	2	334	c.147C>A	c.(145-147)TCC>TCA	p.S49S	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Silent_p.S49S|RTN3_uc001nxn.2_Intron|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Intron|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	49					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63488173	63488173	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63488173A>G	uc001nxq.2	+	3	2386	c.2199A>G	c.(2197-2199)GTA>GTG	p.V733V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.V714V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.V621V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	733					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63681532	63681532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63681532C>T	uc001nyc.2	-	8	1173	c.785G>A	c.(784-786)GGC>GAC	p.G262D		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2																		---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63970965	63970965	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63970965A>G	uc001nyk.1	+	13	1577	c.1430A>G	c.(1429-1431)AAC>AGC	p.N477S	STIP1_uc010rnb.1_Missense_Mutation_p.N453S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	477					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64023979	64023979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64023979A>G	uc001nzb.2	+	9	830	c.830A>G	c.(829-831)GAA>GGA	p.E277G	PLCB3_uc009ypg.1_Missense_Mutation_p.E277G|PLCB3_uc009yph.1_Missense_Mutation_p.E210G|PLCB3_uc009ypi.2_Missense_Mutation_p.E277G	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	277					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64026012	64026012	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64026012C>T	uc001nzb.2	+	11	1080	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	PLCB3_uc009ypg.1_Silent_p.C360C|PLCB3_uc009yph.1_Silent_p.C293C|PLCB3_uc009ypi.2_Silent_p.C360C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	360	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64031258	64031258	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64031258G>A	uc001nzb.2	+	21	2551	c.2551G>A	c.(2551-2553)GAC>AAC	p.D851N	PLCB3_uc009ypg.1_Missense_Mutation_p.D851N|PLCB3_uc009yph.1_Missense_Mutation_p.D784N|PLCB3_uc009ypi.2_Missense_Mutation_p.D851N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	851					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64032685	64032685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64032685C>T	uc001nzb.2	+	24	2828	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V	PLCB3_uc009ypg.1_Missense_Mutation_p.A943V|PLCB3_uc009yph.1_Missense_Mutation_p.A876V|PLCB3_uc009ypi.2_Missense_Mutation_p.A943V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	943					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
BAD	572	broad.mit.edu	37	11	64037796	64037796	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64037796C>T	uc001nzd.2	-	4	474	c.392G>A	c.(391-393)CGC>CAC	p.R131H	BAD_uc001nzc.2_Missense_Mutation_p.R131H|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	131					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1																		---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64367342	64367342	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64367342C>T	uc001oam.1	+	7	2012	c.1265C>T	c.(1264-1266)GCC>GTC	p.A422V	SLC22A12_uc001oal.1_Missense_Mutation_p.A201V|SLC22A12_uc009yps.1_Missense_Mutation_p.A388V|SLC22A12_uc001oan.1_Missense_Mutation_p.A314V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A240V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	422	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453147	64453147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453147C>T	uc001oar.2	-	7	1562	c.1123G>A	c.(1123-1125)GAC>AAC	p.D375N	NRXN2_uc001oas.2_Missense_Mutation_p.D351N|NRXN2_uc001oaq.2_Missense_Mutation_p.D49N	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10																		---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64508434	64508434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64508434G>A	uc009ypu.2	-	5	584	c.357C>T	c.(355-357)ATC>ATT	p.I119I	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.I119I|RASGRP2_uc009ypw.2_Silent_p.I119I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	119	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0																OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64540944	64540944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64540944A>G	uc001obb.1	-	3	571	c.194T>C	c.(193-195)CTG>CCG	p.L65P	SF1_uc010rnn.1_Missense_Mutation_p.L39P|SF1_uc001oaz.1_Missense_Mutation_p.L190P|SF1_uc001oba.1_Missense_Mutation_p.L65P|SF1_uc001obc.1_Missense_Mutation_p.L65P|SF1_uc001obd.1_Missense_Mutation_p.L65P|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	65					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64559444	64559444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64559444G>A	uc001obh.2	-	27	2121	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R669C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	677	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566297	64566297	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566297A>G	uc001obh.2	-	15	1158	c.1066T>C	c.(1066-1068)TGG>CGG	p.W356R	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.W356R	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	356					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566894	64566894	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566894G>T	uc001obh.2	-	14	1144	c.1052C>A	c.(1051-1053)CCG>CAG	p.P351Q	MAP4K2_uc001obi.2_Missense_Mutation_p.P351Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNHIT2	741	broad.mit.edu	37	11	64884013	64884013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64884013T>C	uc001ocw.2	-	1	1158	c.1113A>G	c.(1111-1113)GTA>GTG	p.V371V	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	371							metal ion binding			breast(1)	1																		---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64939752	64939752	+	Silent	SNP	C	T	T	rs138896599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64939752C>T	uc010rnz.1	+	4	294	c.294C>T	c.(292-294)CGC>CGT	p.R98R		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	98	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0																		---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65049201	65049201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65049201G>A	uc001odj.2	+	9	1303	c.961G>A	c.(961-963)GAG>AAG	p.E321K	POLA2_uc010rod.1_Missense_Mutation_p.E113K|POLA2_uc001odk.2_Missense_Mutation_p.E18K	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	321					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65178714	65178714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65178714C>T	uc001odu.3	+	11	1470	c.1278C>T	c.(1276-1278)GGC>GGT	p.G426G	FRMD8_uc009yqj.2_Silent_p.G370G|FRMD8_uc010rof.1_Silent_p.G392G	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	426						cytoskeleton	binding			lung(1)|pancreas(1)	2																		---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65393441	65393441	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65393441C>T	uc001oey.2	+	20	3295	c.3295C>T	c.(3295-3297)CCA>TCA	p.P1099S	PCNXL3_uc009yqn.2_Missense_Mutation_p.P59S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1099						integral to membrane					0																OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65403965	65403965	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65403965C>T	uc001oey.2	+	34	5697	c.5697C>T	c.(5695-5697)CCC>CCT	p.P1899P	PCNXL3_uc001oez.2_Silent_p.P786P	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1899	Gly-rich.					integral to membrane					0																		---	---	---	---
OVOL1	5017	broad.mit.edu	37	11	65562210	65562210	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65562210C>T	uc001ofp.2	+						OVOL1_uc001ofq.2_Intron	NM_004561	NP_004552			OVO-like 1 binding protein						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)														---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65650817	65650817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65650817G>A	uc001ogc.1	+	9	984	c.942G>A	c.(940-942)TCG>TCA	p.S314S	CTSW_uc001ogb.1_Silent_p.S314S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	314					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)														---	---	---	---
DRAP1	10589	broad.mit.edu	37	11	65688892	65688892	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65688892G>T	uc001ogj.1	+	7	849	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	202					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)														---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767122	65767122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65767122A>G	uc001ogm.1	-	4	506	c.221T>C	c.(220-222)ATT>ACT	p.I74T	EIF1AD_uc001ogn.1_Missense_Mutation_p.I74T|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	74	S1-like.					nucleus	translation initiation factor activity				0																		---	---	---	---
BANF1	8815	broad.mit.edu	37	11	65771097	65771097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65771097G>A	uc001ogo.2	+	3	632	c.124G>A	c.(124-126)GCC>ACC	p.A42T	EIF1AD_uc001ogm.1_5'Flank|EIF1AD_uc001ogn.1_5'Flank|BANF1_uc001ogp.2_Missense_Mutation_p.A42T	NM_003860	NP_003851	O75531	BAF_HUMAN	barrier to autointegration factor 1	42					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding				0																		---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66052412	66052412	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66052412G>A	uc001ohk.3	-	7	849	c.667C>T	c.(667-669)CTG>TTG	p.L223L	YIF1A_uc001ohj.2_Silent_p.L80L	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	223	Helical; (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0																		---	---	---	---
BRMS1	25855	broad.mit.edu	37	11	66106244	66106244	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66106244A>C	uc001ohp.1	-	8	788	c.641T>G	c.(640-642)GTG>GGG	p.V214G	RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001oho.1_Missense_Mutation_p.V214G|BRMS1_uc009yre.2_Missense_Mutation_p.V46G	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	214					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0																		---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66190621	66190621	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66190621C>T	uc001ohx.1	+	5	902	c.726C>T	c.(724-726)CGC>CGT	p.R242R	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0																		---	---	---	---
BBS1	582	broad.mit.edu	37	11	66288771	66288771	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66288771G>T	uc001oij.1	+	9	766	c.754G>T	c.(754-756)GAG>TAG	p.E252*	BBS1_uc001oii.1_Nonsense_Mutation_p.E289*|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Nonsense_Mutation_p.E155*|BBS1_uc001oik.1_Nonsense_Mutation_p.E176*|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	252					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66357969	66357969	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66357969T>A	uc001oiq.3	-	1	2586	c.2518A>T	c.(2518-2520)ACC>TCC	p.T840S	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	840										ovary(1)|skin(1)	2																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411054C>A	uc009yrj.2	+	3	1034	c.546C>A	c.(544-546)CGC>CGA	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)														---	---	---	---
RBM4B	83759	broad.mit.edu	37	11	66444271	66444271	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66444271G>T	uc001oja.2	-	1	949	c.280C>A	c.(280-282)CTT>ATT	p.L94I	RBM4B_uc001ojb.2_Missense_Mutation_p.L94I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	94	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66453564	66453564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66453564G>A	uc001ojd.2	-	37	7023	c.6951C>T	c.(6949-6951)AGC>AGT	p.S2317S	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2317	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66476409	66476409	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66476409C>T	uc001ojd.2	-	10	1227	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	385	Spectrin 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66555668	66555668	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66555668G>A	uc001ojf.2	+	5	568	c.561G>A	c.(559-561)CTG>CTA	p.L187L	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Silent_p.L21L	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	32											0																		---	---	---	---
RCE1	9986	broad.mit.edu	37	11	66613379	66613379	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66613379G>T	uc001ojk.1	+	8	847	c.803G>T	c.(802-804)GGT>GTT	p.G268V	RCE1_uc001ojl.1_Missense_Mutation_p.G164V	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	268	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2																		---	---	---	---
PC	5091	broad.mit.edu	37	11	66617874	66617874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66617874G>A	uc001ojn.1	-	17	2584	c.2535C>T	c.(2533-2535)TAC>TAT	p.Y845Y	PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
PC	5091	broad.mit.edu	37	11	66631240	66631240	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66631240C>A	uc001ojn.1	-						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron	NM_022172	NP_071504			pyruvate carboxylase precursor						gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67017889	67017889	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67017889A>T	uc001ojw.2	+	17	3252	c.2388A>T	c.(2386-2388)GGA>GGT	p.G796G	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.G490G|KDM2A_uc010rpn.1_Silent_p.G357G|KDM2A_uc001ojz.1_Silent_p.G254G|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	796					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			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201901	67201901	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67201901G>A	uc001old.2	+	13	1183	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	RPS6KB2_uc001olf.2_Silent_p.P167P|RPS6KB2_uc001olg.2_Silent_p.P367P|RPS6KB2_uc009yrq.2_Silent_p.P167P|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P198P	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	367	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)															---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67270088	67270088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67270088G>A	uc001olx.2	-	2	369	c.180C>T	c.(178-180)CAC>CAT	p.H60H	PITPNM1_uc001oly.2_Silent_p.H60H|PITPNM1_uc001olz.2_Silent_p.H60H	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	60					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3																		---	---	---	---
CABP2	51475	broad.mit.edu	37	11	67287411	67287411	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67287411A>G	uc001omc.1	-	6	592	c.490T>C	c.(490-492)TTC>CTC	p.F164L	CABP2_uc001omd.1_Missense_Mutation_p.F107L|CABP2_uc001ome.1_Missense_Mutation_p.F170L	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	164	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1																		---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67432984	67432984	+	Missense_Mutation	SNP	C	T	T	rs149584817	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67432984C>T	uc001omr.2	-	7	917	c.478G>A	c.(478-480)GGC>AGC	p.G160S	ALDH3B2_uc001oms.2_Missense_Mutation_p.G160S|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G160S	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	160					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67799623	67799623	+	Missense_Mutation	SNP	G	A	A	rs139334907	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67799623G>A	uc001onc.2	+	2	112	c.5G>A	c.(4-6)CGC>CAC	p.R2H	NDUFS8_uc010rpz.1_Missense_Mutation_p.R2H|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R2H	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	2					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67804031	67804031	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67804031A>G	uc001onc.2	+	7	711	c.604A>G	c.(604-606)AAC>GAC	p.N202D	NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_3'UTR|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	202					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68031218	68031218	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68031218C>T	uc001onr.3	-	3	460	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C11orf24_uc001ons.2_Silent_p.V6V	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	6						integral to membrane					0																		---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007370	70007370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70007370G>A	uc001opj.2	+	17	1987	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	ANO1_uc001opk.1_Missense_Mutation_p.R503Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507698	70507698	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507698T>C	uc001oqc.2	-						SHANK2_uc010rqn.1_Intron|SHANK2_uc001opz.2_Intron|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Intron	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507799	70507799	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507799C>A	uc001oqc.2	-						SHANK2_uc010rqn.1_Missense_Mutation_p.R25L|SHANK2_uc001opz.2_Missense_Mutation_p.R25L|uc009ysn.1_Silent_p.S79S|SHANK2_uc010rqp.1_Missense_Mutation_p.R25L	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71209571	71209571	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71209571T>A	uc001oqn.2	+	20	2193	c.2067T>A	c.(2065-2067)AAT>AAA	p.N689K	NADSYN1_uc001oqo.2_Missense_Mutation_p.N429K|NADSYN1_uc001oqp.2_Missense_Mutation_p.N318K	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	689	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276712	71276712	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71276712G>A	uc001oqt.1	+	1	104	c.79G>A	c.(79-81)GGC>AGC	p.G27S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	27						keratin filament				skin(1)	1																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71720311	71720311	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71720311T>C	uc001orl.1	-						NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Intron|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Intron|NUMA1_uc001orn.2_Intron	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
FOLR2	2350	broad.mit.edu	37	11	71932594	71932594	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71932594C>A	uc009ytd.2	+	5	725	c.556C>A	c.(556-558)CTC>ATC	p.L186I	FOLR2_uc009yte.2_Missense_Mutation_p.L186I|FOLR2_uc001ose.3_Missense_Mutation_p.L186I|FOLR2_uc009ytf.2_Missense_Mutation_p.L186I	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	186					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)													---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942175	71942175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942175A>G	uc001osf.2	+	12	1586	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	INPPL1_uc001osg.2_Missense_Mutation_p.E238G	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942618	71942618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942618T>C	uc001osf.2	+	13	1721	c.1574T>C	c.(1573-1575)GTC>GCC	p.V525A	INPPL1_uc001osg.2_Missense_Mutation_p.V283A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71946494	71946494	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71946494C>T	uc001osf.2	+	23	2805	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	INPPL1_uc001osg.2_Silent_p.Y644Y	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	886					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948754	71948754	+	Missense_Mutation	SNP	C	T	T	rs141174136	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71948754C>T	uc001osf.2	+	26	3613	c.3466C>T	c.(3466-3468)CGG>TGG	p.R1156W	INPPL1_uc001osg.2_Missense_Mutation_p.R914W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72295608	72295608	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72295608C>T	uc010rrc.1	-	18	1767	c.1524G>A	c.(1522-1524)AAG>AAA	p.K508K	PDE2A_uc001oso.2_Silent_p.K487K|PDE2A_uc010rra.1_Silent_p.K501K|PDE2A_uc001osn.2_Silent_p.K252K|PDE2A_uc010rrb.1_Silent_p.K499K|PDE2A_uc010rrd.1_Silent_p.K393K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	508	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)													---	---	---	---
RELT	84957	broad.mit.edu	37	11	73104972	73104972	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73104972A>G	uc001otv.2	+						RELT_uc001otw.2_Intron|RELT_uc001otx.2_Intron	NM_152222	NP_689408			RELT tumor necrosis factor receptor precursor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1																OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74009355	74009355	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74009355C>T	uc001ouz.2	-	4	662	c.619G>A	c.(619-621)GCT>ACT	p.A207T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.A207T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	207						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)																	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74315765	74315765	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74315765C>T	uc001ovf.1	+	3	220	c.145C>T	c.(145-147)CGA>TGA	p.R49*	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	49					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)																	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74421942	74421942	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74421942C>T	uc001ovi.2	-	4	637	c.384G>A	c.(382-384)GAG>GAA	p.E128E	CHRDL2_uc001ovg.2_Silent_p.E12E|CHRDL2_uc001ovh.2_Silent_p.E128E|CHRDL2_uc001ovk.1_Silent_p.E128E			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	128	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)																	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74570275	74570275	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74570275T>C	uc009yub.2	-	12	1406	c.1074A>G	c.(1072-1074)TCA>TCG	p.S358S	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Missense_Mutation_p.T112A|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	358					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74993028	74993028	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74993028G>A	uc001owe.1	-	6	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ARRB1_uc001owf.1_Missense_Mutation_p.P131L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	131	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115222	75115222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115222C>T	uc001owh.2	+	5	539	c.509C>T	c.(508-510)ACT>ATT	p.T170I	RPS3_uc001owi.2_Missense_Mutation_p.T170I|RPS3_uc001owk.1_Missense_Mutation_p.T44I|SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	170					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115466	75115466	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115466T>A	uc001owh.2	+						RPS3_uc001owi.2_Intron|RPS3_uc001owk.1_Intron|SNORD15B_uc001owl.1_RNA	NM_001005	NP_000996			ribosomal protein S3						activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694518	75694518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75694518G>A	uc001oxc.2	+	8	1028	c.787G>A	c.(787-789)GCA>ACA	p.A263T	UVRAG_uc010rrw.1_Missense_Mutation_p.A162T|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	263	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6																		---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76507436	76507436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76507436T>A	uc001oxt.2	+	2	948	c.776T>A	c.(775-777)CTG>CAG	p.L259Q		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	259	LRR 9.					extracellular region					0	Ovarian(111;0.112)																	---	---	---	---
OMP	4975	broad.mit.edu	37	11	76814187	76814187	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76814187A>G	uc010rsk.1	+	1	302	c.302A>G	c.(301-303)GAC>GGC	p.D101G	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	101					sensory perception of smell|synaptic transmission						0																		---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77091002	77091002	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77091002A>C	uc001oyh.3	-	3	761	c.228T>G	c.(226-228)TCT>TCG	p.S76S	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Silent_p.S76S|PAK1_uc001oyi.1_Silent_p.S76S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	76	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)																	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77409545	77409545	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77409545T>G	uc001oyn.2	-	7	2822	c.2702A>C	c.(2701-2703)AAC>ACC	p.N901T	RSF1_uc001oym.2_Missense_Mutation_p.N649T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	901	PHD-type.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77639459	77639459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77639459T>C	uc001oys.2	-	11	1328	c.1300A>G	c.(1300-1302)ACC>GCC	p.T434A	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.T434A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	434	HEAT 7.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)															---	---	---	---
ALG8	79053	broad.mit.edu	37	11	77817965	77817965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77817965G>A	uc001oza.1	-	10	1131	c.1066C>T	c.(1066-1068)CCC>TCC	p.P356S	ALG8_uc001oyz.1_Missense_Mutation_p.P356S|ALG8_uc009yux.1_Missense_Mutation_p.P254S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	356					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885115	77885115	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885115C>A	uc001ozb.2	-	2	561	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	162						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885584	77885584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77907407	77907407	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77907407T>C	uc009yva.1	+	2	362	c.116T>C	c.(115-117)CTG>CCG	p.L39P	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	39					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77921303C>A	uc009yva.1	+	10	2648	c.2402C>A	c.(2401-2403)CCG>CAG	p.P801Q	USP35_uc001oze.2_Missense_Mutation_p.P557Q|USP35_uc001ozc.2_Missense_Mutation_p.P369Q|USP35_uc010rsp.1_Missense_Mutation_p.P233Q|USP35_uc001ozd.2_Missense_Mutation_p.P412Q|USP35_uc001ozf.2_Missense_Mutation_p.P532Q	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
ODZ4	26011	broad.mit.edu	37	11	78369545	78369545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78369545C>T	uc001ozl.3	-	34	8331	c.7868G>A	c.(7867-7869)GGA>GAA	p.G2623E	ODZ4_uc001ozk.3_Missense_Mutation_p.G848E|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2623	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877480	82877480	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82877480C>T	uc001ozx.3	+	5	1886	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	PCF11_uc010rsu.1_Missense_Mutation_p.S514L	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82878291	82878291	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82878291G>A	uc001ozx.3	+	6	2287	c.1942G>A	c.(1942-1944)GCC>ACC	p.A648T	PCF11_uc010rsu.1_Missense_Mutation_p.A648T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	648					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880832	82880832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82880832T>C	uc001ozx.3	+	8	3800	c.3455T>C	c.(3454-3456)TTC>TCC	p.F1152S	PCF11_uc010rsu.1_Missense_Mutation_p.F1283S	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1152					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375106	85375106	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85375106C>T	uc001pas.2	-	1	1077	c.814G>A	c.(814-816)GCC>ACC	p.A272T	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	272					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)														OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445705	85445705	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85445705G>T	uc010rth.1	-	6	940	c.664C>A	c.(664-666)CCA>ACA	p.P222T	SYTL2_uc010rtg.1_Missense_Mutation_p.P223T|SYTL2_uc010rti.1_Missense_Mutation_p.P222T|SYTL2_uc010rtj.1_Missense_Mutation_p.P174T|SYTL2_uc001pbf.3_Missense_Mutation_p.P222T|SYTL2_uc010rtf.1_Missense_Mutation_p.P80T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	222					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)														---	---	---	---
C11orf73	51501	broad.mit.edu	37	11	86017344	86017344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86017344T>C	uc001pbu.2	+	2	326	c.88T>C	c.(88-90)TAT>CAT	p.Y30H	C11orf73_uc001pbt.2_Missense_Mutation_p.Y30H|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	30						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)																---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86106389	86106389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86106389T>C	uc001pbx.1	+	5	997	c.569T>C	c.(568-570)GTG>GCG	p.V190A	CCDC81_uc001pbw.1_Missense_Mutation_p.V100A|CCDC81_uc010rtq.1_5'UTR|CCDC81_uc001pby.1_5'UTR	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	190										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)																---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86665896	86665896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86665896G>A	uc001pce.2	-	1	538	c.232C>T	c.(232-234)CAG>TAG	p.Q78*	uc001pcf.2_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	78	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87029283	87029283	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:87029283T>C	uc001pch.2	+						TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Intron	NM_022918	NP_075069			transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88242507	88242507	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88242507G>A	uc001pcq.2	-	9	3092	c.2892C>T	c.(2890-2892)GGC>GGT	p.G964G	GRM5_uc009yvm.2_Silent_p.G932G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	964	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780887	88780887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780887C>T	uc001pcq.2	-	1	354	c.154G>A	c.(154-156)GTT>ATT	p.V52I	GRM5_uc009yvm.2_Missense_Mutation_p.V52I|GRM5_uc009yvn.1_Missense_Mutation_p.V52I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	52	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087436	92087436	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087436A>G	uc001pdj.3	+	1	2175	c.2158A>G	c.(2158-2160)AGA>GGA	p.R720G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	720	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087574	92087574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087574T>A	uc001pdj.3	+	1	2313	c.2296T>A	c.(2296-2298)TCA>ACA	p.S766T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92531257	92531257	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92531257T>A	uc001pdj.3	+	9	5095	c.5078T>A	c.(5077-5079)ATC>AAC	p.I1693N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1693	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534472	92534472	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92534472A>T	uc001pdj.3	+	9	8310	c.8293A>T	c.(8293-8295)ATT>TTT	p.I2765F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2765	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568120	92568120	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92568120C>A	uc001pdj.3	+	14	9973	c.9956C>A	c.(9955-9957)CCA>CAA	p.P3319Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3319	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616316	92616316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92616316G>A	uc001pdj.3	+	23	12711	c.12694G>A	c.(12694-12696)GTG>ATG	p.V4232M	FAT3_uc001pdi.3_Missense_Mutation_p.V672M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4232	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
MED17	9440	broad.mit.edu	37	11	93545200	93545200	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93545200T>C	uc001pem.3	+	12	2201	c.1926T>C	c.(1924-1926)CTT>CTC	p.L642L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	642					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
FOLR4	390243	broad.mit.edu	37	11	94038882	94038882	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94038882G>C	uc010rud.1	+	1	80	c.80G>C	c.(79-81)TGC>TCC	p.C27S		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	27						extracellular region	folic acid binding|receptor activity			ovary(1)	1																		---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134373	94134373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94134373A>G	uc001pet.2	-	1	213	c.41T>C	c.(40-42)GTG>GCG	p.V14A		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	14						integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94200987	94200987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94200987G>A	uc001peu.2	-	10	1279	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	MRE11A_uc001pev.2_Nonsense_Mutation_p.R364*|MRE11A_uc009ywj.2_Nonsense_Mutation_p.R367*|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)											Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578206	95578206	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578206G>A	uc001pfu.2	-	11	1550	c.1297C>T	c.(1297-1299)CTC>TTC	p.L433F	MTMR2_uc001pfv.2_Missense_Mutation_p.L361F|MTMR2_uc001pfs.2_Missense_Mutation_p.L361F|MTMR2_uc001pft.2_Missense_Mutation_p.L361F|MTMR2_uc010ruj.1_Missense_Mutation_p.L416F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	433	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578262	95578262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578262A>G	uc001pfu.2	-	11	1494	c.1241T>C	c.(1240-1242)GTA>GCA	p.V414A	MTMR2_uc001pfv.2_Missense_Mutation_p.V342A|MTMR2_uc001pfs.2_Missense_Mutation_p.V342A|MTMR2_uc001pft.2_Missense_Mutation_p.V342A|MTMR2_uc010ruj.1_Missense_Mutation_p.V397A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95724805	95724805	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95724805T>C	uc001pfw.1	-	3	3507	c.2222A>G	c.(2221-2223)TAC>TGC	p.Y741C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	741					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)						T	MECT1|CRTC3	salivary gland mucoepidermoid								---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99931951	99931951	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99931951C>T	uc001pga.2	+	10	1327	c.988C>T	c.(988-990)CCA>TCA	p.P330S	CNTN5_uc009ywv.1_Missense_Mutation_p.P330S|CNTN5_uc001pfz.2_Missense_Mutation_p.P330S|CNTN5_uc001pgb.2_Missense_Mutation_p.P256S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	330	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101374854	101374854	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101374854A>G	uc001pgk.3	-	2	1271	c.846T>C	c.(844-846)AGT>AGC	p.S282S	TRPC6_uc009ywy.2_Silent_p.S282S|TRPC6_uc009ywz.1_Silent_p.S282S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	282	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375465	101375465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101375465A>G	uc001pgk.3	-	2	660	c.235T>C	c.(235-237)TTA>CTA	p.L79L	TRPC6_uc009ywy.2_Silent_p.L79L|TRPC6_uc009ywz.1_Silent_p.L79L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	79	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101818760	101818760	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101818760A>G	uc001pgm.2	+	4	665	c.395_splice	c.e4-2	p.V132_splice	KIAA1377_uc001pgn.2_Splice_Site_p.V88_splice|KIAA1377_uc009yxa.1_Splice_Site	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834620	101834620	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101834620A>G	uc001pgm.2	+						KIAA1377_uc001pgn.2_Intron|KIAA1377_uc010run.1_Intron	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
BIRC2	329	broad.mit.edu	37	11	102248433	102248433	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102248433A>G	uc001pgy.2	+	7	2972	c.1573A>G	c.(1573-1575)AAA>GAA	p.K525E	BIRC2_uc010ruq.1_Missense_Mutation_p.K476E|BIRC2_uc010rur.1_Missense_Mutation_p.K525E	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	525	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102482514	102482514	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102482514C>T	uc001phc.2	-	3	508	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	165					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102487565	102487565	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102487565T>C	uc001phc.2	-	2	365	c.352A>G	c.(352-354)AAA>GAA	p.K118E		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	118					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP27	64066	broad.mit.edu	37	11	102567160	102567160	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102567160C>T	uc001phd.1	-	6	867	c.844G>A	c.(844-846)GAC>AAC	p.D282N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	282					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)														---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102713491	102713491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102713491G>A	uc001phj.1	-	2	327	c.262C>T	c.(262-264)CGC>TGC	p.R88C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	88					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)													---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102980475	102980475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102980475G>A	uc001pho.2	+	1	316	c.172G>A	c.(172-174)GCA>ACA	p.A58T	DYNC2H1_uc001phn.1_Missense_Mutation_p.A58T|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A58T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	58	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102988470	102988470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102988470C>T	uc001pho.2	+	6	1021	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q293*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.Q293*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	293	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103004387	103004387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103004387C>T	uc001pho.2	+	14	2201	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	DYNC2H1_uc001phn.1_Missense_Mutation_p.A686V|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A686V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	686	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103070066	103070066	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103070066C>A	uc001pho.2	+	49	8093	c.7949C>A	c.(7948-7950)TCA>TAA	p.S2650*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S2650*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2650	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103102032	103102032	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103102032C>G	uc001pho.2	+	60	9541	c.9397C>G	c.(9397-9399)CTT>GTT	p.L3133V	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3133V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3133	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103907793	103907793	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103907793A>T	uc001phr.2	+	1	486	c.243A>T	c.(241-243)GGA>GGT	p.G81G	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908242	103908242	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908242T>C	uc001phr.2	+	1	935	c.692T>C	c.(691-693)ATA>ACA	p.I231T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	231					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
CASP4	837	broad.mit.edu	37	11	104821692	104821692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104821692A>G	uc001pid.1	-	4	579	c.506T>C	c.(505-507)CTG>CCG	p.L169P	CASP4_uc001pib.1_Missense_Mutation_p.L113P|CASP4_uc009yxg.1_Missense_Mutation_p.L78P|CASP4_uc010rux.1_Missense_Mutation_p.L169P	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	169					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869751	104869751	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869751T>G	uc010rva.1	-	7	989	c.957A>C	c.(955-957)AAA>AAC	p.K319N	CASP5_uc010ruz.1_Missense_Mutation_p.K332N|CASP5_uc010rvb.1_Missense_Mutation_p.K261N|CASP5_uc010rvc.1_Missense_Mutation_p.K177N|CASP5_uc009yxh.2_Missense_Mutation_p.K101N|CASP5_uc010rvd.1_Missense_Mutation_p.K101N	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	319					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105845262	105845262	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105845262A>G	uc001pix.2	+						GRIA4_uc001piw.2_Missense_Mutation_p.T879A|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820			glutamate receptor, ionotrophic, AMPA 4 isoform						glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)													---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105924271	105924271	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105924271T>A	uc001pja.2	-	4	1785	c.1145A>T	c.(1144-1146)GAT>GTT	p.D382V	KBTBD3_uc001pjb.2_Missense_Mutation_p.D382V|KBTBD3_uc009yxm.2_Missense_Mutation_p.D303V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	378	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
SLC35F2	54733	broad.mit.edu	37	11	107682454	107682454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107682454T>A	uc001pjq.2	-	3	774	c.353A>T	c.(352-354)GAT>GTT	p.D118V	SLC35F2_uc010rvu.1_5'UTR|SLC35F2_uc001pjs.2_Missense_Mutation_p.D118V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	118	Helical; (Potential).				transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)														---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107917050	107917050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107917050A>G	uc001pjv.2	+	3	855	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	63					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)														---	---	---	---
ATM	472	broad.mit.edu	37	11	108155161	108155161	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108155161C>A	uc001pkb.1	+	26	4339	c.3954C>A	c.(3952-3954)GTC>GTA	p.V1318V	ATM_uc009yxr.1_Silent_p.V1318V|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1318					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
ATM	472	broad.mit.edu	37	11	108199851	108199851	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108199851A>G	uc001pkb.1	+	49	7578	c.7193A>G	c.(7192-7194)TAC>TGC	p.Y2398C	ATM_uc009yxr.1_Missense_Mutation_p.Y2398C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Y1050C|ATM_uc001pkg.1_Missense_Mutation_p.Y755C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2398	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108547842	108547842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108547842A>G	uc001pkm.2	+	4	474	c.409A>G	c.(409-411)ACT>GCT	p.T137A	DDX10_uc001pkl.1_Missense_Mutation_p.T137A	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	137	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)				T	NUP98	AML*								---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110035934	110035934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110035934G>A	uc009yxw.2	+	6	2175	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	ZC3H12C_uc010rwc.1_Silent_p.L709L|ZC3H12C_uc010rwd.1_Silent_p.L709L|ZC3H12C_uc001pkr.3_Silent_p.L677L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	708							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)														---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111593434	111593434	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111593434T>C	uc001plt.2	+	14	2219	c.2101T>C	c.(2101-2103)TGC>CGC	p.C701R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	701					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3																		---	---	---	---
FDXACB1	91893	broad.mit.edu	37	11	111745746	111745746	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111745746T>C	uc001pmc.3	-	5	2072	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Y443C	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	592	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0																		---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111888543	111888543	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111888543T>C	uc001pml.2	+	20	2202	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DIXDC1_uc001pmm.2_Silent_p.D424D|DIXDC1_uc001pmn.2_Silent_p.D341D|DIXDC1_uc010rwq.1_Silent_p.D300D	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	635	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)														---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112071468	112071468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112071468T>C	uc001pnf.2	+	7	1115	c.998T>C	c.(997-999)TTT>TCT	p.F333S	BCO2_uc001pne.1_Missense_Mutation_p.F160S|BCO2_uc001png.2_Missense_Mutation_p.F260S|BCO2_uc001pnh.2_Missense_Mutation_p.F299S|BCO2_uc010rwt.1_Missense_Mutation_p.F228S|BCO2_uc009yyn.2_Missense_Mutation_p.F299S|BCO2_uc001pni.2_Missense_Mutation_p.F299S	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	333					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112072775	112072775	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112072775T>G	uc001pnf.2	+	8	1173	c.1056T>G	c.(1054-1056)CCT>CCG	p.P352P	BCO2_uc001pne.1_Silent_p.P179P|BCO2_uc001png.2_Silent_p.P279P|BCO2_uc001pnh.2_Silent_p.P318P|BCO2_uc010rwt.1_Silent_p.P247P|BCO2_uc009yyn.2_Silent_p.P318P|BCO2_uc001pni.2_Silent_p.P318P	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	352					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
PTS	5805	broad.mit.edu	37	11	112099313	112099313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112099313T>C	uc001pnj.3	+						PTS_uc009yyo.2_Intron	NM_000317	NP_000308			6-pyruvoyltetrahydropterin synthase						cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding				0		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113085138	113085138	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113085138G>A	uc009yyq.1	+	8	1304	c.610G>A	c.(610-612)GAG>AAG	p.E204K	NCAM1_uc001pno.2_Missense_Mutation_p.E204K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	322	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113103011	113103011	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113103011C>T	uc009yyq.1	+	12	1778	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	454	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113105824C>T	uc009yyq.1	+	15	2181	c.1487C>T	c.(1486-1488)GCG>GTG	p.A496V		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	588	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113210045	113210045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113210045C>T	uc001pnu.2	+	10	780	c.675C>T	c.(673-675)GAC>GAT	p.D225D	TTC12_uc001pnv.2_Silent_p.D231D|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.D75D	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	225							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283413	113283413	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113283413G>T	uc001pnz.2	-	6	1324	c.1003C>A	c.(1003-1005)CCC>ACC	p.P335T	DRD2_uc010rwv.1_Missense_Mutation_p.P334T|DRD2_uc001poa.3_Missense_Mutation_p.P335T|DRD2_uc001pob.3_Missense_Mutation_p.P306T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	335	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113295153	113295153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113295153A>T	uc001pnz.2	-	1	542	c.221T>A	c.(220-222)GTC>GAC	p.V74D	DRD2_uc010rwv.1_Missense_Mutation_p.V74D|DRD2_uc001poa.3_Missense_Mutation_p.V74D|DRD2_uc001pob.3_Missense_Mutation_p.V74D|DRD2_uc009yyr.1_Missense_Mutation_p.V74D	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	74	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113644272	113644272	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113644272C>T	uc001poe.2	-						ZW10_uc009yyv.2_Intron	NM_004724	NP_004715			centromere/kinetochore protein zw10						cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700038	113700038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700038C>T	uc001poh.2	-	10	973	c.940G>A	c.(940-942)GGC>AGC	p.G314S	USP28_uc001pog.2_Missense_Mutation_p.G22S|USP28_uc010rwy.1_Missense_Mutation_p.G189S|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.G314S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	314					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700069	113700069	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700069T>C	uc001poh.2	-	10	944	c.911_splice	c.e10-1	p.G304_splice	USP28_uc001pog.2_Silent_p.L11L|USP28_uc010rwy.1_Splice_Site_p.G179_splice|USP28_uc001poi.2_Splice_Site|USP28_uc001poj.3_Splice_Site_p.G304_splice	NM_020886	NP_065937			ubiquitin specific protease 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857522	113857522	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857522C>A	uc010rxb.1	+	7	1239	c.1006C>A	c.(1006-1008)CTT>ATT	p.L336I	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)													---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114112918	114112918	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114112918T>G	uc001pop.2	+	5	1747	c.1483T>G	c.(1483-1485)TGT>GGT	p.C495G	ZBTB16_uc001poq.2_Missense_Mutation_p.C495G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	495	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121116	114121116	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114121116C>A	uc001pop.2	+	7	2125	c.1861C>A	c.(1861-1863)CTG>ATG	p.L621M	ZBTB16_uc001poq.2_Missense_Mutation_p.L621M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	621	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
NNMT	4837	broad.mit.edu	37	11	114182929	114182929	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114182929C>A	uc001por.1	+	5	789	c.525C>A	c.(523-525)ACC>ACA	p.T175T	NNMT_uc001pos.1_Silent_p.T175T	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	175					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)													---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114392823	114392823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114392823T>A	uc001ppa.2	-	6	1502	c.1085A>T	c.(1084-1086)GAT>GTT	p.D362V	FAM55A_uc010rxd.1_Missense_Mutation_p.D211V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	504						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114401086	114401086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661462	116661462	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661462C>A	uc001ppr.2	-	3	491	c.483G>T	c.(481-483)CAG>CAT	p.Q161H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Q161H|APOA5_uc009yzf.2_Missense_Mutation_p.Q161H|APOA5_uc009yzg.2_Missense_Mutation_p.Q187H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	161					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661593	116661593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661593C>T	uc001ppr.2	-	3	360	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.V118M|APOA5_uc009yzf.2_Missense_Mutation_p.V118M|APOA5_uc009yzg.2_Missense_Mutation_p.V144M	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	118	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116767020	116767020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116767020G>A	uc001ppy.2	-	6	676	c.640C>T	c.(640-642)CGG>TGG	p.R214W	SIK3_uc001ppz.2_Missense_Mutation_p.R113W|SIK3_uc001pqa.2_Missense_Mutation_p.R214W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	214	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12																		---	---	---	---
PAFAH1B2	5049	broad.mit.edu	37	11	117038342	117038342	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117038342G>A	uc001pqe.1	+	6	719	c.617G>A	c.(616-618)TGC>TAC	p.C206Y	PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	206					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)				T	IGH@	MLCLS								---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117066583C>T	uc001pqh.1	+	25	2429	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIDT2_uc010rxe.1_Silent_p.H796H|SIDT2_uc001pqg.2_Silent_p.H817H|SIDT2_uc001pqi.1_Silent_p.H793H|SIDT2_uc001pqj.1_Silent_p.H108H|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	796	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)														---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117089225	117089225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117089225C>A	uc001pqr.2	-	12	1692	c.1491G>T	c.(1489-1491)AAG>AAT	p.K497N		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	497	Homo B/P.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)				T	IGH@	MLCLS								---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117152804	117152804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117152804T>C	uc001pqt.2	+	11	1575	c.1530T>C	c.(1528-1530)AAT>AAC	p.N510N	RNF214_uc001pqu.2_Silent_p.N510N|RNF214_uc010rxf.1_Silent_p.N355N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	510	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155864	117155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155864A>T	uc001pqt.2	+	15	2154	c.2109A>T	c.(2107-2109)AAA>AAT	p.K703N	RNF214_uc001pqu.2_Missense_Mutation_p.K703N|RNF214_uc010rxf.1_Missense_Mutation_p.K548N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	703							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310647	117310647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117310647C>T	uc001prh.1	-	22	4050	c.4048G>A	c.(4048-4050)GCA>ACA	p.A1350T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1290	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117351946	117351946	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117351946A>G	uc001prh.1	-	13	2781	c.2779T>C	c.(2779-2781)TGC>CGC	p.C927R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	867	Extracellular (Potential).|Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117376239	117376239	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117376239G>A	uc001prh.1	-	9	2174	c.2172C>T	c.(2170-2172)AAC>AAT	p.N724N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	664	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
SCN2B	6327	broad.mit.edu	37	11	118039292	118039292	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118039292G>T	uc001psf.2	-							NM_004588	NP_004579			sodium channel, voltage-gated, type II, beta						synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)														---	---	---	---
MPZL3	196264	broad.mit.edu	37	11	118106262	118106262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118106262A>G	uc001psm.2	-	4	496	c.494T>C	c.(493-495)CTT>CCT	p.L165P	MPZL3_uc010rxy.1_Missense_Mutation_p.L153P|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	165	Helical; (Potential).				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)														---	---	---	---
CD3D	915	broad.mit.edu	37	11	118211157	118211157	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118211157T>A	uc001pss.1	-	2	344	c.207A>T	c.(205-207)GGA>GGT	p.G69G	CD3D_uc001pst.1_Silent_p.G69G	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	69	Extracellular (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118359369	118359369	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118359369T>C	uc001pta.2	+	11	4396	c.4373T>C	c.(4372-4374)TTT>TCT	p.F1458S	MLL_uc001ptb.2_Missense_Mutation_p.F1458S|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1458	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
MLL	4297	broad.mit.edu	37	11	118376836	118376836	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118376836C>T	uc001pta.2	+	27	10243	c.10220C>T	c.(10219-10221)CCA>CTA	p.P3407L	MLL_uc001ptb.2_Missense_Mutation_p.P3410L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3407					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
TMEM25	84866	broad.mit.edu	37	11	118403848	118403848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118403848G>A	uc010rye.1	+	4	773	c.599G>A	c.(598-600)CGC>CAC	p.R200H	TMEM25_uc010ryd.1_Missense_Mutation_p.R200H|TMEM25_uc001ptk.3_Missense_Mutation_p.R200H|TMEM25_uc001pth.2_Missense_Mutation_p.R200H|TMEM25_uc009zad.2_Missense_Mutation_p.R200H|TMEM25_uc001pti.2_Missense_Mutation_p.R96H|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.R200H|TMEM25_uc001ptm.2_Missense_Mutation_p.R200H|TMEM25_uc001ptn.2_Missense_Mutation_p.R200H	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	200	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118416578	118416578	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118416578G>A	uc001ptp.1	-						TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Intron|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538			IFT46						flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0																		---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498402	118498402	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498402G>A	uc001ptr.1	+	7	1216	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PHLDB1_uc010ryh.1_Missense_Mutation_p.R287H|PHLDB1_uc001pts.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptt.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R88H|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	288											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498590	118498590	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498590C>T	uc001ptr.1	+	7	1404	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	PHLDB1_uc010ryh.1_Missense_Mutation_p.R350W|PHLDB1_uc001pts.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptt.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R151W|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	351											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919507	118919507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118919507A>G	uc001puu.2	-	18	2277	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	HYOU1_uc001put.2_Missense_Mutation_p.M660T|HYOU1_uc010ryu.1_Missense_Mutation_p.M653T|HYOU1_uc010ryv.1_Missense_Mutation_p.M584T|HYOU1_uc001pux.3_Missense_Mutation_p.M695T|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	695						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118922291	118922291	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118922291A>G	uc001puu.2	-	13	1578	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HYOU1_uc001put.2_Missense_Mutation_p.L427P|HYOU1_uc010ryu.1_Missense_Mutation_p.L482P|HYOU1_uc010ryv.1_Missense_Mutation_p.L351P|HYOU1_uc001pux.3_Missense_Mutation_p.L462P|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.L462P	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	462						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119059156	119059156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119059156G>A	uc001pwb.2	+	6	1677	c.1153G>A	c.(1153-1155)GTG>ATG	p.V385M	PDZD3_uc001pvy.2_Missense_Mutation_p.V305M|PDZD3_uc001pvz.2_Missense_Mutation_p.V319M|PDZD3_uc010rzd.1_Missense_Mutation_p.V306M|PDZD3_uc001pwa.2_Missense_Mutation_p.V15M			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	385	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)														---	---	---	---
MCAM	4162	broad.mit.edu	37	11	119185585	119185585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119185585G>A	uc001pwf.2	-	3	387	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	120	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)														---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119205959	119205959	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119205959G>A	uc001pwh.2	+	1	723	c.127G>A	c.(127-129)GTC>ATC	p.V43I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	43	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)														---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119217211	119217211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119217211A>G	uc001pwj.2	-	1	173	c.13T>C	c.(13-15)TCA>CCA	p.S5P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S5P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
USP2	9099	broad.mit.edu	37	11	119243939	119243939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119243939G>A	uc001pwm.3	-	2	547	c.252C>T	c.(250-252)GAC>GAT	p.D84D	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)														---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120169101	120169101	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120169101T>C	uc001pxc.2	+	4	360	c.258_splice	c.e4+2	p.Q86_splice	POU2F3_uc010rzk.1_Splice_Site_p.G25_splice|POU2F3_uc010rzl.1_Splice_Site_p.Q16_splice	NM_014352	NP_055167			POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)														---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120319906	120319906	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120319906G>A	uc001pxl.1	+	21	1833	c.1826G>A	c.(1825-1827)CGT>CAT	p.R609H	ARHGEF12_uc009zat.2_Missense_Mutation_p.R590H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R506H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R506H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	609					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996433	120996433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120996433C>T	uc010rzo.1	+	7	1626	c.1626C>T	c.(1624-1626)GAC>GAT	p.D542D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	542					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120998788	120998788	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120998788G>A	uc010rzo.1	+	8	2102	c.2102G>A	c.(2101-2103)GGC>GAC	p.G701D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	701					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121429410	121429410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121429410G>A	uc001pxx.2	+	20	2854	c.2774G>A	c.(2773-2775)GGC>GAC	p.G925D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	925	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121454212	121454212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121454212G>A	uc001pxx.2	+	26	3706	c.3626G>A	c.(3625-3627)GGG>GAG	p.G1209E	SORL1_uc010rzp.1_Missense_Mutation_p.G55E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1209	Extracellular (Potential).|LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122756903	122756903	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122756903T>C	uc001pym.2	+	2	641	c.344_splice	c.e2+2	p.R115_splice	C11orf63_uc001pyl.1_Splice_Site_p.R115_splice	NM_024806	NP_079082			hypothetical protein LOC79864 isoform 1											ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774952	122774952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774952T>A	uc001pym.2	+	3	961	c.664T>A	c.(664-666)TCG>ACG	p.S222T	C11orf63_uc001pyl.1_Missense_Mutation_p.S222T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	222										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774956	122774956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774956G>A	uc001pym.2	+	3	965	c.668G>A	c.(667-669)AGC>AAC	p.S223N	C11orf63_uc001pyl.1_Missense_Mutation_p.S223N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	223										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122805178	122805178	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122805178A>G	uc001pym.2	+	5	1326	c.1029A>G	c.(1027-1029)GTA>GTG	p.V343V		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	343										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929501	122929501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122929501T>C	uc001pyo.2	-	7	1439	c.1361A>G	c.(1360-1362)AAC>AGC	p.N454S	HSPA8_uc009zbc.2_Missense_Mutation_p.N218S|HSPA8_uc001pyp.2_Missense_Mutation_p.N454S|HSPA8_uc010rzu.1_Missense_Mutation_p.N377S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	454					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---
ASAM	79827	broad.mit.edu	37	11	122955429	122955429	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122955429A>G	uc001pyt.2	-							NM_024769	NP_079045			adipocyte-specific adhesion molecule precursor							integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777391	123777391	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123777391T>G	uc010saa.1	+	1	253	c.253T>G	c.(253-255)TTT>GTT	p.F85V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900356	123900356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900356G>A	uc001pzp.1	+	1	27	c.27G>A	c.(25-27)GCG>GCA	p.A9A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124016061	124016061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124016061G>A	uc001pzu.2	+	18	2481	c.2272G>A	c.(2272-2274)GCC>ACC	p.A758T	VWA5A_uc001pzt.2_Missense_Mutation_p.A758T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	758										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
OR8G2	26492	broad.mit.edu	37	11	124095831	124095831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124095831A>G	uc010saf.1	+	1	434	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	145						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	124135712	124135712	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124135712A>G								OR8G2 (39402 upstream) : OR8D1 (44025 downstream)																																			---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253182	124253182	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124253182G>A	uc010sai.1	-	1	58	c.58C>T	c.(58-60)CAT>TAT	p.H20Y	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124266612	124266612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124266612A>G	uc010saj.1	-	1	636	c.636T>C	c.(634-636)TGT>TGC	p.C212C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310559	124310559	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310559A>G	uc010sal.1	-	1	423	c.423T>C	c.(421-423)TGT>TGC	p.C141C		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310909	124310909	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310909T>A	uc010sal.1	-	1	73	c.73A>T	c.(73-75)ATC>TTC	p.I25F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413100	124413100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413100C>T	uc010sam.1	-	1	451	c.451G>A	c.(451-453)GGG>AGG	p.G151R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413431C>T	uc010sam.1	-	1	120	c.120G>A	c.(118-120)GGG>GGA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124618372	124618372	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124618372C>T	uc001qas.2	-	6	841	c.765G>A	c.(763-765)TTG>TTA	p.L255L	VSIG2_uc001qat.2_Silent_p.L255L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	255	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)														---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124628331	124628331	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124628331T>C	uc001qav.3	-	2	336	c.163A>G	c.(163-165)ACC>GCC	p.T55A	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_5'Flank|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.T55A	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	55	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)												OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C11orf61	79684	broad.mit.edu	37	11	124637844	124637844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124637844T>C	uc001qba.1	-	4	931	c.908A>G	c.(907-909)GAC>GGC	p.D303G	C11orf61_uc001qaz.1_Missense_Mutation_p.D251G|C11orf61_uc010sap.1_Missense_Mutation_p.D23G|C11orf61_uc001qay.1_Missense_Mutation_p.D73G	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	303											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)														---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766208	124766208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124766208C>A	uc001qbg.2	-	4	705	c.565G>T	c.(565-567)GGG>TGG	p.G189W	ROBO4_uc010sas.1_Missense_Mutation_p.G44W|ROBO4_uc001qbh.2_Missense_Mutation_p.G79W|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	189	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124794859	124794859	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124794859C>T	uc001qbk.2	-	2	598	c.192G>A	c.(190-192)AGG>AGA	p.R64R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.R64R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	64	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)														---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857077	124857077	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124857077C>A	uc001qbm.3	+	8	1214	c.955C>A	c.(955-957)CAG>AAG	p.Q319K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	319						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)														---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124954765	124954765	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124954765C>T	uc001qbn.2	+	13	1421	c.1170C>T	c.(1168-1170)TCC>TCT	p.S390S	SLC37A2_uc010sau.1_Silent_p.S390S|SLC37A2_uc010sav.1_Silent_p.S15S|SLC37A2_uc001qbp.2_Silent_p.S15S	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	390					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)														---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125547886	125547886	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125547886G>A	uc001qcs.2	-	2	626	c.359C>T	c.(358-360)TCA>TTA	p.S120L	ACRV1_uc001qck.2_Missense_Mutation_p.S50L|ACRV1_uc001qcl.2_Missense_Mutation_p.S50L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S65L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S50L|ACRV1_uc001qcr.2_Missense_Mutation_p.S120L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	120	4 X 4 AA repeats of S-G-E-H.|2-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)														---	---	---	---
PUS3	83480	broad.mit.edu	37	11	125765945	125765945	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125765945A>C	uc001qcy.2	-	2	333	c.235T>G	c.(235-237)TTT>GTT	p.F79V	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	79						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)														---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125769525	125769525	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125769525A>C	uc009zbv.2	+	4	796	c.262A>C	c.(262-264)AGA>CGA	p.R88R	HYLS1_uc001qcx.3_Silent_p.R88R|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	88						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146977	126146977	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126146977G>A	uc001qdi.2	+	10	1160	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	FOXRED1_uc010sbn.1_Silent_p.P201P|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.P184P|FOXRED1_uc010sbq.1_Silent_p.P238P|FOXRED1_uc001qdj.2_Silent_p.P160P|FOXRED1_uc010sbr.1_Silent_p.P357P|FOXRED1_uc001qdk.2_Silent_p.P160P	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	371						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)														---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128786318	128786318	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128786318G>T	uc001qet.2	+	3	1266	c.952G>T	c.(952-954)GCC>TCC	p.A318S	KCNJ5_uc009zck.2_Missense_Mutation_p.A318S|KCNJ5_uc001qew.2_Missense_Mutation_p.A318S	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	318	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)													---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840677	128840677	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128840677T>C	uc009zcp.2	-	22	4389	c.4389A>G	c.(4387-4389)CAA>CAG	p.Q1463Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q422Q|ARHGAP32_uc001qez.2_Silent_p.Q1114Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1463	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129739947	129739947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129739947G>A	uc001qfi.2	-	24	3174	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	NFRKB_uc001qfg.2_Silent_p.T1016T|NFRKB_uc001qfh.2_Silent_p.T1014T|NFRKB_uc010sbw.1_Silent_p.T1001T|NFRKB_uc009zcr.2_Silent_p.T277T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	991					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)														---	---	---	---
ST14	6768	broad.mit.edu	37	11	130068525	130068525	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130068525C>T	uc001qfw.2	+							NM_021978	NP_068813			matriptase						proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)													---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275557	130275557	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130275557T>A	uc001qgg.3	-	9	2924	c.2566A>T	c.(2566-2568)ACT>TCT	p.T856S	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T337S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	856	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319172	130319172	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130319172T>C	uc010scd.1	+	1	304	c.304T>C	c.(304-306)TTC>CTC	p.F102L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)														---	---	---	---
SNX19	399979	broad.mit.edu	37	11	130775969	130775969	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130775969T>C	uc001qgk.3	-	7	2870	c.2322A>G	c.(2320-2322)TTA>TTG	p.L774L	SNX19_uc009zcw.2_Silent_p.L11L|SNX19_uc010sce.1_Silent_p.L154L|SNX19_uc010scf.1_Silent_p.L217L|SNX19_uc010scg.1_Silent_p.L11L|SNX19_uc001qgl.3_Silent_p.L757L|SNX19_uc009zcx.1_RNA	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	774					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)														---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132812874	132812874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132812874G>A	uc001qgs.2	-	1	164	c.114C>T	c.(112-114)TTC>TTT	p.F38F	OPCML_uc001qgu.2_Silent_p.F31F|OPCML_uc010sck.1_Silent_p.F38F|OPCML_uc001qgt.2_Silent_p.F38F|OPCML_uc010scl.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	38					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790109	133790109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181068	134181068	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134181068C>T	uc009zdf.2	+						GLB1L3_uc001qho.3_Intron	NM_001080407	NP_001073876			galactosidase, beta 1 like 3						carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)														---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247988	247988	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:247988G>A	uc001qhw.1	+	1	556	c.550G>A	c.(550-552)GAC>AAC	p.D184N	IQSEC3_uc001qhu.1_Missense_Mutation_p.D184N|IQSEC3_uc001qht.1_Missense_Mutation_p.D269N|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)														---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442787	442787	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:442787G>T	uc001qif.1	-	12	1882	c.1519C>A	c.(1519-1521)CCA>ACA	p.P507T	KDM5A_uc001qie.1_Missense_Mutation_p.P507T|KDM5A_uc010sdn.1_Missense_Mutation_p.P466T|KDM5A_uc010sdo.1_Missense_Mutation_p.P126T	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	507	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
WNK1	65125	broad.mit.edu	37	12	968488	968488	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:968488A>G	uc001qio.3	+	6	1985	c.1478A>G	c.(1477-1479)GAT>GGT	p.D493G	WNK1_uc001qip.3_Missense_Mutation_p.D493G|WNK1_uc001qir.3_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	493					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
HSN2	378465	broad.mit.edu	37	12	977470	977470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:977470C>T	uc001qiq.2	+	1	601	c.475C>T	c.(475-477)CGG>TGG	p.R159W	WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_213655	NP_998820			hereditary sensory neuropathy, type II												0	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994674	994674	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:994674T>A	uc001qio.3	+	19	5211	c.4704T>A	c.(4702-4704)CAT>CAA	p.H1568Q	WNK1_uc001qip.3_Missense_Mutation_p.H1321Q|WNK1_uc001qir.3_Missense_Mutation_p.H741Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1568					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1003798	1003798	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1003798T>C	uc001qio.3	+	23	6087	c.5580T>C	c.(5578-5580)TTT>TTC	p.F1860F	WNK1_uc001qip.3_Silent_p.F1612F|WNK1_uc001qir.3_Silent_p.F1033F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1860					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1006677	1006677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1006677G>A	uc001qio.3	+	25	6785	c.6278G>A	c.(6277-6279)CGC>CAC	p.R2093H	WNK1_uc001qip.3_Missense_Mutation_p.R1845H|WNK1_uc001qir.3_Missense_Mutation_p.R1266H|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2093					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1038990	1038990	+	Silent	SNP	G	A	A	rs144619978	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1038990G>A	uc001qis.1	-	5	457	c.343C>T	c.(343-345)CTG>TTG	p.L115L	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.L38L|RAD52_uc001qiu.1_Silent_p.L115L|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.L115L|RAD52_uc001qix.1_Silent_p.L115L	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	115					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1882031	1882031	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1882031T>C	uc001qjm.2	+	3	392	c.195T>C	c.(193-195)AGT>AGC	p.S65S	ADIPOR2_uc001qjn.2_Silent_p.S65S	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	65	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)															---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1983839	1983839	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1983839C>T	uc001qjp.2	-	18	2040	c.1809G>A	c.(1807-1809)CTG>CTA	p.L603L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	603	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2055377	2055377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2055377T>C	uc001qjx.1	-	9	1929	c.1849A>G	c.(1849-1851)ATG>GTG	p.M617V	DCP1B_uc010sdy.1_Missense_Mutation_p.M515V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	617					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2102471	2102471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2102471A>T	uc001qjx.1	-	3	358	c.278T>A	c.(277-279)TTC>TAC	p.F93Y	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F93Y	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	93					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2719827	2719827	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2719827G>A	uc009zdu.1	+	29	4052	c.3739G>A	c.(3739-3741)GTC>ATC	p.V1247I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1224I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1227I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1227I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qka.1_Missense_Mutation_p.V762I|CACNA1C_uc001qki.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V963I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1247	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2774756	2774756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2774756C>T	uc009zdu.1	+	38	4865	c.4552C>T	c.(4552-4554)CTC>TTC	p.L1518F	CACNA1C_uc009zdv.1_Missense_Mutation_p.L1467F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1457F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1492F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1518F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1490F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1487F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1498F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qki.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L1195F|CACNA1C_uc010sea.1_Missense_Mutation_p.L161F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1518	Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3388233	3388233	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3388233G>A	uc001qlp.2	+	5	477	c.330_splice	c.e5+1	p.K110_splice		NM_006675	NP_006666			tetraspanin 9							integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)															---	---	---	---
EFCAB4B	84766	broad.mit.edu	37	12	3768745	3768745	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3768745C>T	uc001qmj.2	-	8	1319	c.747G>A	c.(745-747)GAG>GAA	p.E249E	EFCAB4B_uc010sen.1_Silent_p.E249E|EFCAB4B_uc010seo.1_Silent_p.E249E|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	249	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---
C12orf4	57102	broad.mit.edu	37	12	4599042	4599042	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4599042A>T	uc001qms.2	-	14	1678	c.1590T>A	c.(1588-1590)TAT>TAA	p.Y530*	C12orf4_uc001qmt.2_Nonsense_Mutation_p.Y530*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	530											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)														---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4654960	4654960	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4654960T>A	uc001qmw.2	+	4	378	c.222T>A	c.(220-222)GGT>GGA	p.G74G	RAD51AP1_uc001qmu.2_Intron|RAD51AP1_uc001qmv.2_Silent_p.G20G|RAD51AP1_uc010sep.1_Intron|RAD51AP1_uc010seq.1_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	74					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4657887	4657887	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4657887T>C	uc001qmw.2	+	7	648	c.492T>C	c.(490-492)GGT>GGC	p.G164G	RAD51AP1_uc001qmu.2_Silent_p.G147G|RAD51AP1_uc001qmv.2_Silent_p.G110G|RAD51AP1_uc010sep.1_Silent_p.G29G|RAD51AP1_uc010seq.1_Silent_p.G29G|RAD51AP1_uc009zeg.2_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	164					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4735822	4735822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4735822G>A	uc001qnb.3	-	4	2475	c.2246C>T	c.(2245-2247)CCT>CTT	p.P749L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	749					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6																		---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4919490	4919490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4919490G>A	uc001qng.2	+	1	1149	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	95						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3															HNSCC(72;0.22)			---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020846	5020846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5020846G>A	uc001qnh.2	+	2	1407	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	101					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021176	5021176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021176T>C	uc001qnh.2	+	2	1737	c.632T>C	c.(631-633)ATC>ACC	p.I211T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	211					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021662	5021662	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021662T>C	uc001qnh.2	+	2	2223	c.1118T>C	c.(1117-1119)GTA>GCA	p.V373A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	373	Selectivity filter (By similarity).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154130	5154130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154984	5154984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154984C>T	uc001qni.2	+	1	1900	c.1671C>T	c.(1669-1671)AGC>AGT	p.S557S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	557						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5744509	5744509	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5744509G>A	uc001qnm.2	-	17	1697	c.1625C>T	c.(1624-1626)GCC>GTC	p.A542V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	547	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6438737	6438737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6438737C>T	uc001qnu.2	-	10	1390	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.R262H|TNFRSF1A_uc010sey.1_Missense_Mutation_p.R138H|TNFRSF1A_uc010sez.1_Missense_Mutation_p.R262H|TNFRSF1A_uc009zek.2_Missense_Mutation_p.R327H	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	370	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3																		---	---	---	---
VAMP1	6843	broad.mit.edu	37	12	6574081	6574081	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6574081A>G	uc001qok.2	-	4	461	c.315T>C	c.(313-315)TGT>TGC	p.C105C	TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Silent_p.C105C|VAMP1_uc001qol.2_Silent_p.C105C	NM_014231	NP_055046	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 isoform 1	105	Helical; Anchor for type IV membrane protein; (Potential).				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding				0					Botulinum Toxin Type B(DB00042)													---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6639009	6639009	+	Missense_Mutation	SNP	G	A	A	rs145700246	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6639009G>A	uc001qoo.2	+	29	3768	c.3722G>A	c.(3721-3723)CGT>CAT	p.R1241H	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1196H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6664471	6664471	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6664471T>C	uc001qpd.1	-	1	759	c.725A>G	c.(724-726)TAC>TGC	p.Y242C	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpf.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpc.1_Missense_Mutation_p.Y242C	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	242	Potential.					intermediate filament					0																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6692213	6692213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6692213T>C	uc001qpo.2	-	27	4291	c.4127A>G	c.(4126-4128)GAC>GGC	p.D1376G	CHD4_uc001qpn.2_Missense_Mutation_p.D1369G|CHD4_uc001qpp.2_Missense_Mutation_p.D1401G|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1376					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6696652	6696652	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6696652G>A	uc001qpo.2	-	25	3941	c.3777C>T	c.(3775-3777)GAC>GAT	p.D1259D	CHD4_uc001qpn.2_Silent_p.D1252D|CHD4_uc001qpp.2_Silent_p.D1256D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1259					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CD4	920	broad.mit.edu	37	12	6926284	6926284	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6926284G>A	uc001qqv.1	+						CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron|CD4_uc010sfm.1_Intron	NM_000616	NP_000607			CD4 antigen precursor						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
CD4	920	broad.mit.edu	37	12	6928489	6928489	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6928489C>A	uc001qqv.1	+	10	1616	c.1371C>A	c.(1369-1371)CCC>CCA	p.P457P	CD4_uc010sfj.1_Silent_p.P184P|CD4_uc009zfc.1_Silent_p.P278P|CD4_uc010sfk.1_Silent_p.P184P|CD4_uc010sfl.1_Silent_p.P184P|CD4_uc010sfm.1_Silent_p.P184P|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	457	Cytoplasmic (Potential).			Missing: Abolished interaction with SPG21 and induced T-cell activation.	cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
SPSB2	84727	broad.mit.edu	37	12	6981914	6981914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6981914T>C	uc001qrl.2	-	2	308	c.152A>G	c.(151-153)AAA>AGA	p.K51R	SPSB2_uc001qrm.2_Missense_Mutation_p.K51R|SPSB2_uc010sfp.1_Missense_Mutation_p.K51R|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	51	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1																OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	7015022	7015022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7015022C>T	uc001qrt.3	+	3	532	c.140C>T	c.(139-141)CCC>CTC	p.P47L	LRRC23_uc001qrn.1_Missense_Mutation_p.P47L|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.P47L|LRRC23_uc001qrq.2_Missense_Mutation_p.P47L|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Missense_Mutation_p.P47L	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	47										ovary(1)	1																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7043403	7043403	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7043403G>A	uc001qrw.1	+	3	329	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ATN1_uc001qrx.1_Missense_Mutation_p.G31D|ATN1_uc001qry.1_Missense_Mutation_p.G31D	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	31	Nuclear localization signal.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7046281	7046281	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7046281C>T	uc001qrw.1	+	5	2088	c.1851C>T	c.(1849-1851)GTC>GTT	p.V617V	ATN1_uc001qrx.1_Silent_p.V617V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	617					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7047957	7047957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7047957A>G	uc001qrw.1	+	7	3068	c.2831A>G	c.(2830-2832)GAC>GGC	p.D944G	ATN1_uc001qrx.1_Missense_Mutation_p.D944G	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	944					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
PHB2	11331	broad.mit.edu	37	12	7079581	7079581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7079581G>A	uc001qsd.2	-	1	336	c.126C>T	c.(124-126)ACC>ACT	p.T42T	PHB2_uc010sft.1_Silent_p.T42T|PHB2_uc010sfu.1_Silent_p.T42T|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	42	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7087608	7087608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7087608T>G	uc001qsi.2	-	9	1049	c.935A>C	c.(934-936)AAG>ACG	p.K312T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.K206T|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.K170T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	312					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7289485	7289485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7289485C>T	uc001qsr.2	+	7	1267	c.989C>T	c.(988-990)GCA>GTA	p.A330V	CLSTN3_uc001qss.2_Missense_Mutation_p.A342V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	330	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7290632	7290632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7290632G>A	uc001qsr.2	+	8	1570	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CLSTN3_uc001qss.2_Missense_Mutation_p.R443H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	431	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295461	7295461	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295461C>A	uc001qsr.2	+						CLSTN3_uc001qss.2_Intron	NM_014718	NP_055533			calsyntenin 3 precursor						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295559	7295559	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295559C>T	uc001qsr.2	+	11	1913	c.1635C>T	c.(1633-1635)TGC>TGT	p.C545C	CLSTN3_uc001qss.2_Silent_p.C557C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	545	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361760	7361760	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7361760T>C	uc009zfu.1	+	15	2134	c.1554T>C	c.(1552-1554)CGT>CGC	p.R518R	PEX5_uc001qsw.2_Silent_p.R518R|PEX5_uc010sgc.1_Silent_p.R533R|PEX5_uc001qsu.2_Silent_p.R481R|PEX5_uc010sgd.1_Silent_p.R539R|PEX5_uc001qsv.2_Silent_p.R510R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	518	TPR 5.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CD163	9332	broad.mit.edu	37	12	7651537	7651537	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7651537G>T	uc001qsz.3	-	4	833	c.705C>A	c.(703-705)CTC>CTA	p.L235L	CD163_uc001qta.3_Silent_p.L235L|CD163_uc009zfw.2_Silent_p.L235L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	235	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---
CD163	9332	broad.mit.edu	37	12	7653746	7653746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7653746A>G	uc001qsz.3	-	3	574	c.446T>C	c.(445-447)GTG>GCG	p.V149A	CD163_uc001qta.3_Missense_Mutation_p.V149A|CD163_uc009zfw.2_Missense_Mutation_p.V149A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	149	SRCR 1.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805322	7805322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7805322G>A	uc001qtb.2	-	3	188	c.154C>T	c.(154-156)CGA>TGA	p.R52*	APOBEC1_uc001qtc.2_Nonsense_Mutation_p.R7*|APOBEC1_uc010sgf.1_Nonsense_Mutation_p.R52*	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	52					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0																		---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8203211	8203211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8203211G>A	uc001qtu.2	+	10	2716	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)														---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212130	8212130	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8212130T>C	uc001qtv.1	-	2	744	c.652A>G	c.(652-654)ACA>GCA	p.T218A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	218	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)														---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8803195	8803195	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8803195C>T	uc001qut.1	-						MFAP5_uc001qus.2_Intron|MFAP5_uc009zge.1_Intron	NM_003480	NP_003471			microfibrillar associated protein 5 precursor							microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)																	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8990998	8990998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8990998T>C	uc001quz.3	+	9	1020	c.922T>C	c.(922-924)TAC>CAC	p.Y308H		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	152						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9004515	9004515	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9004515C>T	uc001quz.3	+	19	2468	c.2370C>T	c.(2368-2370)TTC>TTT	p.F790F	A2ML1_uc001qva.1_Silent_p.F370F|A2ML1_uc010sgm.1_Silent_p.F290F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	634						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9007372	9007372	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9007372G>A	uc001quz.3	+						A2ML1_uc001qva.1_Intron|A2ML1_uc010sgm.1_Intron	NM_144670	NP_653271			alpha-2-macroglobulin-like 1 precursor							extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9089499	9089499	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9089499T>A	uc001qvd.2	+	12	2572	c.2416T>A	c.(2416-2418)TAC>AAC	p.Y806N	PHC1_uc001qve.2_Missense_Mutation_p.Y806N	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	806	FCS-type.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
A2M	2	broad.mit.edu	37	12	9221379	9221379	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9221379A>T	uc001qvk.1	-	34	4436	c.4323T>A	c.(4321-4323)GAT>GAA	p.D1441E	A2M_uc001qvj.1_Missense_Mutation_p.D483E|A2M_uc009zgk.1_Missense_Mutation_p.D1291E	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1441					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
A2M	2	broad.mit.edu	37	12	9262545	9262545	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9262545C>A	uc001qvk.1	-	6	704	c.591G>T	c.(589-591)GAG>GAT	p.E197D	A2M_uc009zgk.1_Missense_Mutation_p.E47D	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
PZP	5858	broad.mit.edu	37	12	9316284	9316284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9316284T>C	uc001qvl.2	-	21	2745	c.2716A>G	c.(2716-2718)ATC>GTC	p.I906V	PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---
CLEC12B	387837	broad.mit.edu	37	12	10163385	10163385	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10163385A>G	uc001qwz.2	+	1	155	c.27A>G	c.(25-27)ACA>ACG	p.T9T	CLEC12B_uc001qww.1_Silent_p.T9T|CLEC12B_uc001qwx.1_Silent_p.T9T|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	9	Cytoplasmic (Potential).|ITIM motif.					integral to membrane|plasma membrane	receptor activity|sugar binding				0																		---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10213735	10213735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10213735T>C	uc001qxa.2	+	6	795	c.182T>C	c.(181-183)GTG>GCG	p.V61A		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	61	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1																		---	---	---	---
CLEC7A	64581	broad.mit.edu	37	12	10278009	10278009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10278009A>G	uc001qxg.2	-	4	566	c.379T>C	c.(379-381)TAT>CAT	p.Y127H	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxh.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxi.2_Missense_Mutation_p.Y127H|CLEC7A_uc001qxj.2_Missense_Mutation_p.Y48H|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.Y127H|CLEC7A_uc010sgy.1_Missense_Mutation_p.Y81H|CLEC7A_uc001qxm.1_Missense_Mutation_p.Y81H	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	127	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1																		---	---	---	---
KLRC4	8302	broad.mit.edu	37	12	10561587	10561587	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10561587C>T	uc001qye.2	-	2	392	c.210G>A	c.(208-210)AAG>AAA	p.K70K	KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	70	Cytoplasmic (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10777265	10777265	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10777265C>T	uc001qys.2	-	8	1432	c.911G>A	c.(910-912)AGC>AAC	p.S304N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	304	Protein kinase.			S -> R (in Ref. 1; AAK34949 and 2; AAT01226).		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
TAS2R13	50838	broad.mit.edu	37	12	11061110	11061110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11061110T>C	uc001qzg.1	-	1	1052	c.788A>G	c.(787-789)TAC>TGC	p.Y263C	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	263	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2																		---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12022490	12022490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12022490G>A	uc001qzz.2	+	5	870	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	199						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)						T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								---	---	---	---
GPRC5D	55507	broad.mit.edu	37	12	13095228	13095228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13095228T>C	uc010shp.1	-	2	930	c.930A>G	c.(928-930)GCA>GCG	p.A310A		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)														---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716607	13716607	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13716607C>T	uc001rbt.2	-	13	3744	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1189	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768096	13768096	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13768096C>T	uc001rbt.2	-	7	1785	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	536	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13828667	13828667	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13828667G>T	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14577340	14577340	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14577340C>T	uc001rbw.2	+	2	649	c.491C>T	c.(490-492)CCC>CTC	p.P164L	ATF7IP_uc010shs.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbu.2_Missense_Mutation_p.P164L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P164L|ATF7IP_uc010sht.1_Missense_Mutation_p.P164L|ATF7IP_uc001rby.3_Missense_Mutation_p.P164L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P164L|ATF7IP_uc001rca.2_Missense_Mutation_p.P164L|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	164					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14649274	14649274	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14649274T>C	uc001rbw.2	+	14	3548	c.3390T>C	c.(3388-3390)CAT>CAC	p.H1130H	ATF7IP_uc001rbx.2_Silent_p.H1129H|ATF7IP_uc001rby.3_Silent_p.H1130H|ATF7IP_uc001rca.2_Silent_p.H1130H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1130					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14804958	14804958	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14804958T>A	uc001rcd.2	-	14	1677	c.1540A>T	c.(1540-1542)ATT>TTT	p.I514F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	514	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14813967	14813967	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14813967T>C	uc001rcd.2	-	11	1449	c.1312A>G	c.(1312-1314)ACC>GCC	p.T438A		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	438	Helical; (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14822720	14822720	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14822720A>G	uc001rcd.2	-	10	1355	c.1218T>C	c.(1216-1218)CCT>CCC	p.P406P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	406	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14849242	14849242	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14849242A>G	uc001rcd.2	-	1	278	c.141T>C	c.(139-141)TTT>TTC	p.F47F	GUCY2C_uc009zhz.2_Silent_p.F47F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	47	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14954271	14954271	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14954271T>C	uc001rci.2	-	2	208	c.47A>G	c.(46-48)AAC>AGC	p.N16S	C12orf60_uc001rcj.3_5'Flank	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	16	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15652375	15652375	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15652375G>T	uc001rcv.1	+	4	683	c.509_splice	c.e4-1	p.D170_splice	PTPRO_uc001rcw.1_Splice_Site_p.D170_splice|PTPRO_uc001rcu.1_Splice_Site_p.D170_splice	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15679131	15679131	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15679131A>C	uc001rcv.1	+	12	2273	c.2099A>C	c.(2098-2100)AAC>ACC	p.N700T	PTPRO_uc001rcw.1_Missense_Mutation_p.N700T	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	700	Fibronectin type-III 7.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15803899	15803899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15803899G>A	uc009zif.2	-	14	1386	c.1292C>T	c.(1291-1293)CCA>CTA	p.P431L	EPS8_uc001rdb.2_Missense_Mutation_p.P431L|EPS8_uc009zig.2_Missense_Mutation_p.P171L|EPS8_uc010shv.1_Missense_Mutation_p.P171L	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	431	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15811494	15811494	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15811494T>C	uc009zif.2	-	11	1057	c.963A>G	c.(961-963)AAA>AAG	p.K321K	EPS8_uc001rdb.2_Silent_p.K321K|EPS8_uc009zig.2_Silent_p.K61K|EPS8_uc010shv.1_Silent_p.K61K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	321					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16035702	16035702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16035702G>A	uc001rdc.3	+	1	415	c.61G>A	c.(61-63)GCC>ACC	p.A21T	STRAP_uc010shw.1_Missense_Mutation_p.A21T|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	21	WD 1.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)																---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19593269	19593269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19593269T>C	uc001ref.2	+	1	662	c.636T>C	c.(634-636)GAT>GAC	p.D212D	AEBP2_uc001ree.2_Silent_p.D212D|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	212	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19615467	19615467	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19615467T>C	uc001ref.2	+	2	721	c.695T>C	c.(694-696)GTA>GCA	p.V232A	AEBP2_uc001ree.2_Missense_Mutation_p.V232A|AEBP2_uc001reg.1_Missense_Mutation_p.V3A	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	232	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19671029	19671029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19671029C>T	uc001ref.2	+	8	1516	c.1490C>T	c.(1489-1491)CCG>CTG	p.P497L	AEBP2_uc001ree.2_Missense_Mutation_p.P497L|AEBP2_uc001reg.1_Missense_Mutation_p.P268L	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	497	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20803459	20803459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20803459T>C	uc001reh.1	+	14	2872	c.2850T>C	c.(2848-2850)GAT>GAC	p.D950D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	950	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)													---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21033815	21033815	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21033815A>T	uc001rek.2	+	11	1484	c.1358A>T	c.(1357-1359)GAT>GTT	p.D453V	SLCO1B3_uc001rel.2_Missense_Mutation_p.D453V|SLCO1B3_uc010sil.1_Missense_Mutation_p.D453V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D278V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	453	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---
LST-3TM12	338821	broad.mit.edu	37	12	21201738	21201738	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21201738T>A	uc010sin.1	+	8	1087	c.1087T>A	c.(1087-1089)TTG>ATG	p.L363M	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L410M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	363						membrane	transporter activity				0																		---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21327601	21327601	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21327601T>A	uc001req.3	+	4	421	c.317T>A	c.(316-318)ATT>AAT	p.I106N		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	106	Helical; Name=3; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377697	21377697	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377697A>G	uc001req.3	+	14	1893	c.1789A>G	c.(1789-1791)ACA>GCA	p.T597A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	597	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21636379	21636379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21636379T>C	uc001rex.2	-	7	979	c.631A>G	c.(631-633)AGG>GGG	p.R211G	RECQL_uc001rey.2_Missense_Mutation_p.R211G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21981972	21981972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21981972G>A	uc001rfi.1	-	29	3609	c.3589C>T	c.(3589-3591)CGT>TGT	p.R1197C	ABCC9_uc001rfh.2_Missense_Mutation_p.R1197C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1161C	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1197	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22069897	22069897	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22069897C>T	uc001rfi.1	-	4	567	c.547G>A	c.(547-549)GTG>ATG	p.V183M	ABCC9_uc001rfh.2_Missense_Mutation_p.V183M|ABCC9_uc001rfj.1_Missense_Mutation_p.V183M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	183	Helical; Name=5; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22078945	22078945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22078945C>T	uc001rfi.1	-	3	357	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ABCC9_uc001rfh.2_Missense_Mutation_p.V113I|ABCC9_uc001rfj.1_Missense_Mutation_p.V113I|ABCC9_uc001rfk.2_Missense_Mutation_p.V113I|ABCC9_uc001rfl.1_Missense_Mutation_p.V113I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	113	Helical; Name=3; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23893932	23893932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23893932C>A	uc001rfw.2	-	5	712	c.610G>T	c.(610-612)GGT>TGT	p.G204C	SOX5_uc001rfx.2_Missense_Mutation_p.G191C|SOX5_uc001rfy.2_Missense_Mutation_p.G191C|SOX5_uc010siv.1_Missense_Mutation_p.G191C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G156C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	204	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23999138	23999138	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23999138A>G	uc001rfw.2	-						SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron|SOX5_uc010siv.1_Intron|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_008871			SRY (sex determining region Y)-box 5 isoform a						transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
MIR920	100126320	broad.mit.edu	37	12	24365362	24365362	+	RNA	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24365362T>G	hsa-mir-920|MI0005712	+			c.8T>G			SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	24736709	24736709	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24736709G>T	uc001rgb.1	-	1		c.394C>A								Homo sapiens cDNA FLJ32894 fis, clone TESTI2004994.																														---	---	---	---
IFLTD1	160492	broad.mit.edu	37	12	25702341	25702341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25702341T>C	uc001rgs.2	-	2	316	c.166A>G	c.(166-168)AGT>GGT	p.S56G	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S77G|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S77G	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	56						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26571996	26571996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26571996A>G	uc001rhg.2	-	50	7513	c.7096T>C	c.(7096-7098)TTC>CTC	p.F2366L	ITPR2_uc009zjg.1_Missense_Mutation_p.F517L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2366	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26709200	26709200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26709200C>T	uc001rhg.2	-	36	5347	c.4930G>A	c.(4930-4932)GAT>AAT	p.D1644N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1644	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26774071	26774071	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26774071A>G	uc001rhg.2	-	26	3864	c.3447T>C	c.(3445-3447)GGT>GGC	p.G1149G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1149	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26864129	26864129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26864129T>A	uc001rhg.2	-	9	1345	c.928A>T	c.(928-930)ACT>TCT	p.T310S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	310	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
C12orf11	55726	broad.mit.edu	37	12	27087529	27087529	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27087529A>G	uc001rhk.3	-	3	797	c.260T>C	c.(259-261)GTT>GCT	p.V87A	C12orf11_uc010sjk.1_Intron	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	87					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)																	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143484	27143484	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27143484A>G	uc010sjl.1	-	6	1005	c.767T>C	c.(766-768)GTC>GCC	p.V256A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	256						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)																	---	---	---	---
MED21	9412	broad.mit.edu	37	12	27179427	27179427	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27179427G>T	uc001rhp.1	+	2	147	c.117G>T	c.(115-117)CAG>CAT	p.Q39H	MED21_uc009zjh.1_Intron	NM_004264	NP_004255	Q13503	MED21_HUMAN	mediator complex subunit 21	39					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity				0	Colorectal(261;0.0847)																	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29485537	29485537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29485537T>C	uc001ris.3	+	11	1409	c.1262T>C	c.(1261-1263)TTC>TCC	p.F421S	FAR2_uc001rit.2_Missense_Mutation_p.F421S|FAR2_uc009zjm.2_Missense_Mutation_p.F324S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	421					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29592296	29592296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29592296T>C	uc001rix.1	-	26	3229	c.3229A>G	c.(3229-3231)AAC>GAC	p.N1077D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1077					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29596436	29596436	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29596436A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29626041	29626041	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29626041A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29630380	29630380	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29630380T>C	uc001rix.1	-	11	1140	c.1140A>G	c.(1138-1140)CCA>CCG	p.P380P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	380	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29665046	29665046	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29665046C>G	uc001rjb.2	-	17	2588	c.2114G>C	c.(2113-2115)AGA>ACA	p.R705T	TMTC1_uc001riz.2_Missense_Mutation_p.R462T|TMTC1_uc001rja.2_Missense_Mutation_p.R549T|TMTC1_uc001riy.2_Missense_Mutation_p.R158T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	813	TPR 9.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)																	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30805933	30805933	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30805933A>G	uc001rjd.2	-	18	2212	c.2042T>C	c.(2041-2043)GTG>GCG	p.V681A	IPO8_uc001rje.1_Missense_Mutation_p.V170A|IPO8_uc010sjt.1_Missense_Mutation_p.V476A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	681					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30869619	30869619	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30869619A>T	uc001rji.1	-						CAPRIN2_uc001rjf.1_Intron|CAPRIN2_uc001rjg.1_Intron|CAPRIN2_uc001rjh.1_Intron|CAPRIN2_uc001rjj.1_Intron|CAPRIN2_uc001rjk.3_Intron|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259			C1q domain containing 1 isoform 1						negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30882246	30882246	+	Missense_Mutation	SNP	C	T	T	rs146283389	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30882246C>T	uc001rji.1	-	8	1869	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R170H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R373H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R40H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	373					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30887988	30887988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30887988A>G	uc001rji.1	-	4	1474	c.723T>C	c.(721-723)AAT>AAC	p.N241N	CAPRIN2_uc001rjf.1_Silent_p.N38N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.N241N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.N241N|CAPRIN2_uc001rjl.3_Silent_p.N241N	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	241					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	31301814	31301814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31301814C>T	uc010sjy.1	-	10	1138	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K						RecName: Full=Ovostatin homolog 1; Flags: Precursor;																														---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31605416	31605416	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31605416A>C	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Intron|DENND5B_uc001rkk.1_Intron	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C12orf35	55196	broad.mit.edu	37	12	32135177	32135177	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32135177A>T	uc001rks.2	+	4	1702	c.1288A>T	c.(1288-1290)ACT>TCT	p.T430S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	430										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32860353	32860353	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32860353C>T	uc001rld.2	+						DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Intron|DNM1L_uc001rlg.2_Intron|DNM1L_uc001rlh.2_Intron|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192			dynamin 1-like isoform 1						cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32993959	32993959	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32993959T>C	uc001rlj.3	-						PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	NM_004572	NP_004563			plakophilin 2 isoform 2b						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33592387	33592387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33592387C>T	uc001rll.1	-	1	368	c.71G>A	c.(70-72)TGC>TAC	p.C24Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	24	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)																	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39751199	39751199	+	Missense_Mutation	SNP	T	A	A	rs145427361		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39751199T>A	uc001rly.2	-	9	1402	c.1256A>T	c.(1255-1257)AAT>ATT	p.N419I	KIF21A_uc001rlx.2_Missense_Mutation_p.N419I|KIF21A_uc001rlz.2_Missense_Mutation_p.N419I|KIF21A_uc010skl.1_Missense_Mutation_p.N419I|KIF21A_uc001rma.1_Missense_Mutation_p.N427I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	419	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40677882	40677882	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40677882C>A	uc001rmg.3	+	19	2568	c.2447C>A	c.(2446-2448)TCT>TAT	p.S816Y	LRRK2_uc001rmh.1_Missense_Mutation_p.S438Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327636	41327636	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41327636A>G	uc001rmm.1	+	9	1054	c.941A>G	c.(940-942)AAC>AGC	p.N314S	CNTN1_uc009zjy.1_Missense_Mutation_p.N314S|CNTN1_uc001rmn.1_Missense_Mutation_p.N303S|CNTN1_uc001rmo.2_Missense_Mutation_p.N314S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	314	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41374737	41374737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41374737A>G	uc001rmm.1	+	16	1944	c.1831A>G	c.(1831-1833)AGA>GGA	p.R611G	CNTN1_uc001rmn.1_Missense_Mutation_p.R600G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	611	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41961604	41961604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41961604A>G	uc010skn.1	+	9	958	c.890A>G	c.(889-891)GAA>GGA	p.E297G	PDZRN4_uc001rmq.3_Missense_Mutation_p.E238G|PDZRN4_uc009zjz.2_Missense_Mutation_p.E236G|PDZRN4_uc001rmr.2_Missense_Mutation_p.E123G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	496							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)																---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42512919	42512919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42512919A>G	uc001rms.3	-	3	594	c.369T>C	c.(367-369)TGT>TGC	p.C123C	GXYLT1_uc001rmt.3_Silent_p.C92C	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	123	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42745851	42745851	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42745851A>G	uc001rng.1	+	3	342	c.237A>G	c.(235-237)GGA>GGG	p.G79G	PPHLN1_uc001rmy.2_Silent_p.G97G|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Silent_p.G86G|PPHLN1_uc001rnb.2_Silent_p.G86G|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Silent_p.G79G|PPHLN1_uc001rnf.2_Silent_p.G79G|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	79					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)														---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43846182	43846182	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43846182A>G	uc010skx.1	-	14	1974	c.1974T>C	c.(1972-1974)TGT>TGC	p.C658C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44338087	44338087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44338087T>C	uc001rod.2	+	3	418	c.352T>C	c.(352-354)TTT>CTT	p.F118L	TMEM117_uc001roe.2_Missense_Mutation_p.L47P|TMEM117_uc009zkc.2_Missense_Mutation_p.F118L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	118	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44782428	44782428	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782428G>T	uc001rod.2	+	8	1584	c.1518G>T	c.(1516-1518)ACG>ACT	p.T506T	TMEM117_uc001roe.2_Silent_p.T402T|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46231180	46231180	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46231180A>T	uc001ros.1	+	9	1100	c.1100A>T	c.(1099-1101)GAT>GTT	p.D367V	ARID2_uc001ror.2_Missense_Mutation_p.D367V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.D13V|ARID2_uc001rot.1_Missense_Mutation_p.D13V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	367					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245033	46245033	+	Nonsense_Mutation	SNP	C	T	T	rs139789595		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245033C>T	uc001ros.1	+	15	3127	c.3127C>T	c.(3127-3129)CAA>TAA	p.Q1043*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1043*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q499*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q670*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q377*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1043	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1043*(1)		ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245055	46245055	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245055G>C	uc001ros.1	+	15	3149	c.3149G>C	c.(3148-3150)GGT>GCT	p.G1050A	ARID2_uc001ror.2_Missense_Mutation_p.G1050A|ARID2_uc009zkg.1_Missense_Mutation_p.G506A|ARID2_uc009zkh.1_Missense_Mutation_p.G677A|ARID2_uc001rou.1_Missense_Mutation_p.G384A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1050	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246402	46246402	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46246402T>C	uc001ros.1	+	15	4496	c.4496T>C	c.(4495-4497)CTA>CCA	p.L1499P	ARID2_uc001ror.2_Missense_Mutation_p.L1499P|ARID2_uc009zkg.1_Missense_Mutation_p.L955P|ARID2_uc009zkh.1_Missense_Mutation_p.L1126P|ARID2_uc001rou.1_Missense_Mutation_p.L833P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1499					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46316789	46316789	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46316789G>A	uc001rox.2	-	13	4342	c.4055C>T	c.(4054-4056)GCT>GTT	p.A1352V	SFRS2IP_uc001row.2_Missense_Mutation_p.A1037V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1352					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46320326	46320326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46320326T>C	uc001rox.2	-	11	3445	c.3158A>G	c.(3157-3159)GAA>GGA	p.E1053G	SFRS2IP_uc001row.2_Missense_Mutation_p.E738G|SFRS2IP_uc001roy.1_Missense_Mutation_p.E1127G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1053					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46321589	46321589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46321589A>G	uc001rox.2	-	11	2182	c.1895T>C	c.(1894-1896)GTT>GCT	p.V632A	SFRS2IP_uc001row.2_Missense_Mutation_p.V317A|SFRS2IP_uc001roy.1_Missense_Mutation_p.V706A	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	632					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46756850	46756850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46756850G>A	uc001rpg.2	-	13	1573	c.1133C>T	c.(1132-1134)GCT>GTT	p.A378V	SLC38A2_uc010sli.1_Missense_Mutation_p.A216V|SLC38A2_uc001rph.2_Missense_Mutation_p.A278V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	378	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46764393	46764393	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46764393G>T	uc001rpg.2	-	4	656	c.216C>A	c.(214-216)TCC>TCA	p.S72S	SLC38A2_uc001rph.2_Intron	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	72	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172470	47172470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47172470C>T	uc001rpi.2	-	11	1206	c.807G>A	c.(805-807)ATG>ATA	p.M269I	SLC38A4_uc001rpj.2_Missense_Mutation_p.M269I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	269	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48367266	48367266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48367266A>G	uc001rqu.2	-	54	4569	c.4388T>C	c.(4387-4389)ATT>ACT	p.I1463T	COL2A1_uc001rqt.2_Missense_Mutation_p.I244T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1394T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1463	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48369119	48369119	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48369119G>A	uc001rqu.2	-	51	4048	c.3867C>T	c.(3865-3867)TGC>TGT	p.C1289C	COL2A1_uc001rqt.2_Silent_p.C70C|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.C1220C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1289	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48442746	48442746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48442746A>G	uc001rqx.2	-	14	2023	c.1577T>C	c.(1576-1578)GTG>GCG	p.V526A	SENP1_uc001rqw.2_Missense_Mutation_p.V526A|SENP1_uc001rqy.2_Missense_Mutation_p.V327A|SENP1_uc001rqz.2_Missense_Mutation_p.V327A|SENP1_uc009zkx.2_Missense_Mutation_p.V526A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	526	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)																---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48535570	48535570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48535570A>C	uc001rrc.2	+	16	1630	c.1460A>C	c.(1459-1461)AAG>ACG	p.K487T	PFKM_uc001rra.1_Missense_Mutation_p.K172T|PFKM_uc001rrb.1_Missense_Mutation_p.K558T|PFKM_uc001rrd.2_Missense_Mutation_p.K172T|PFKM_uc001rre.1_Missense_Mutation_p.K487T|PFKM_uc001rrg.1_Missense_Mutation_p.K456T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	487					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49162816	49162816	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49162816A>G	uc001rsh.3	-	20	3945	c.3285T>C	c.(3283-3285)GGT>GGC	p.G1095G	ADCY6_uc001rsj.3_Silent_p.G1095G|ADCY6_uc001rsi.3_Silent_p.G1042G	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	1095	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0																		---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49224275	49224275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49224275G>A	uc001rsm.2	-	17	2531	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	814						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6																		---	---	---	---
FKBP11	51303	broad.mit.edu	37	12	49315835	49315835	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49315835C>T	uc001rsp.2	-	6	657	c.538G>A	c.(538-540)GCC>ACC	p.A180T	FKBP11_uc010sma.1_Missense_Mutation_p.A78T|FKBP11_uc001rsq.3_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	180					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420243	49420243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420243A>G	uc001rta.3	-	48	15506	c.15506T>C	c.(15505-15507)ATT>ACT	p.I5169T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5169					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420661	49420661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420661G>A	uc001rta.3	-	48	15088	c.15088C>T	c.(15088-15090)CGT>TGT	p.R5030C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5030					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
DHH	50846	broad.mit.edu	37	12	49488108	49488108	+	Missense_Mutation	SNP	G	A	A	rs142269288	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49488108G>A	uc001rtf.2	-	1	495	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	63					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
TUBA1B	10376	broad.mit.edu	37	12	49523058	49523058	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49523058G>T	uc001rtm.2	-	3	563	c.342C>A	c.(340-342)ATC>ATA	p.I114I	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.I79I|TUBA1B_uc001rtl.2_Silent_p.I79I|TUBA1B_uc001rtn.2_Intron	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	114					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0																		---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49579012	49579012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49579012G>A	uc009zlf.2	-	4	1409	c.1137C>T	c.(1135-1137)AGC>AGT	p.S379S	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Silent_p.S379S|TUBA1A_uc001rtq.2_Silent_p.S226S|TUBA1A_uc001rtr.2_Silent_p.S226S|TUBA1A_uc009zlg.2_Silent_p.S226S	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	379					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0																		---	---	---	---
C1QL4	338761	broad.mit.edu	37	12	49726989	49726989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49726989C>T	uc001rtz.1	-	2	1276	c.565G>A	c.(565-567)GCG>ACG	p.A189T		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	189	C1q.					collagen					0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937785	49937785	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49937785C>T	uc001ruh.1	+	6	1171	c.911C>T	c.(910-912)ACC>ATC	p.T304I	KCNH3_uc010smj.1_Missense_Mutation_p.T244I	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	304	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49944111	49944111	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49944111A>G	uc001ruh.1	+	10	2177	c.1917A>G	c.(1915-1917)CTA>CTG	p.L639L	KCNH3_uc010smj.1_Silent_p.L579L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	639	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49953259	49953259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49953259G>A	uc001ruk.1	-	12	1254	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	MCRS1_uc001rui.1_Missense_Mutation_p.R368W|MCRS1_uc001ruj.1_Missense_Mutation_p.R342W|MCRS1_uc001rul.1_Missense_Mutation_p.R355W|MCRS1_uc009zlj.1_Missense_Mutation_p.R164W|MCRS1_uc001rum.1_Missense_Mutation_p.R342W	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	355					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49958615	49958615	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49958615G>A	uc001ruk.1	-	5	543	c.352C>T	c.(352-354)CGT>TGT	p.R118C	MCRS1_uc001rui.1_Missense_Mutation_p.R131C|MCRS1_uc001ruj.1_Missense_Mutation_p.R105C|MCRS1_uc001rul.1_Missense_Mutation_p.R118C|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Missense_Mutation_p.R105C|MCRS1_uc001run.1_Missense_Mutation_p.R118C	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	118	Nuclear localization signal (Potential).				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50040738	50040738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50040738G>A	uc001ruv.1	-	25	3160	c.2926C>T	c.(2926-2928)CGG>TGG	p.R976W	FMNL3_uc001ruw.1_Missense_Mutation_p.R925W|FMNL3_uc001rut.1_Missense_Mutation_p.R542W|FMNL3_uc001ruu.1_Missense_Mutation_p.R826W	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	976					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50044495	50044495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50044495C>T	uc001ruv.1	-	17	2198	c.1964G>A	c.(1963-1965)GGC>GAC	p.G655D	FMNL3_uc001ruw.1_Missense_Mutation_p.G604D|FMNL3_uc001rut.1_Missense_Mutation_p.G221D|FMNL3_uc001ruu.1_Missense_Mutation_p.G505D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	655	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50190678	50190678	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50190678G>C	uc009zlk.2	-	8	1167	c.965C>G	c.(964-966)GCC>GGC	p.A322G	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	318	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
FAIM2	23017	broad.mit.edu	37	12	50291301	50291301	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50291301C>T	uc001rvj.1	-	4	525	c.380_splice	c.e4+1	p.C127_splice	FAIM2_uc001rvi.1_Splice_Site_p.C81_splice|FAIM2_uc001rvk.1_Splice_Site	NM_012306	NP_036438			Fas apoptotic inhibitory molecule 2						anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50399142	50399142	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50399142T>C	uc001rvt.2	-	6	632	c.322A>G	c.(322-324)ATG>GTG	p.M108V	RACGAP1_uc009zlm.1_Missense_Mutation_p.M108V|RACGAP1_uc001rvs.2_Missense_Mutation_p.M108V|RACGAP1_uc001rvu.2_Missense_Mutation_p.M108V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	108	Potential.|Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1																		---	---	---	---
ACCN2	41	broad.mit.edu	37	12	50475044	50475044	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50475044T>C	uc001rvw.2	+	11	1608	c.1379T>C	c.(1378-1380)GTC>GCC	p.V460A	ACCN2_uc001rvv.2_Missense_Mutation_p.V506A|ACCN2_uc009zln.2_Missense_Mutation_p.V251A|ACCN2_uc009zlo.2_Missense_Mutation_p.V460A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	460	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)													---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51086792	51086792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51086792T>C	uc001rwv.2	+	14	1871	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	DIP2B_uc009zlt.2_Missense_Mutation_p.F2S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	572						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6																		---	---	---	---
METTL7A	25840	broad.mit.edu	37	12	51319022	51319022	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51319022C>T	uc001rxb.2	+	1	489	c.201C>T	c.(199-201)GGC>GGT	p.G67G	METTL7A_uc010smv.1_Silent_p.G67G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	67						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0																		---	---	---	---
LETMD1	25875	broad.mit.edu	37	12	51451915	51451915	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51451915A>G	uc001rxm.2	+						LETMD1_uc001rxl.2_Intron|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Intron|LETMD1_uc001rxn.2_Intron|LETMD1_uc001rxo.2_Intron|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231			LETM1 domain containing 1 isoform 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2																		---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52078069	52078069	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52078069A>T	uc001ryw.2	+	3	566	c.388A>T	c.(388-390)ATA>TTA	p.I130L	SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	130	Helical; Name=S1 of repeat I; (Potential).|I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)													---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52308233	52308233	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52308233C>T	uc001rzj.2	+	6	919	c.636C>T	c.(634-636)CGC>CGT	p.R212R	ACVRL1_uc001rzk.2_Silent_p.R212R|ACVRL1_uc010snm.1_Silent_p.R38R	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	212	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)									Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
GRASP	160622	broad.mit.edu	37	12	52407946	52407946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52407946T>C	uc001rzo.1	+	7	699	c.643T>C	c.(643-645)TAC>CAC	p.Y215H	GRASP_uc001rzp.1_Missense_Mutation_p.Y72H	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	215	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52449951	52449951	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52449951G>A	uc001rzs.2	+						NR4A1_uc010sno.1_Intron|NR4A1_uc001rzt.2_Intron|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126			nuclear receptor subfamily 4, group A, member 1						nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841348	52841348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52841348G>A	uc001sak.2	-	8	1482	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	478	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865209	52865209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865209T>C	uc001sal.3	-	4	956	c.908A>G	c.(907-909)GAT>GGT	p.D303G		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	303	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865984	52865984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865984C>T	uc001sal.3	-	2	669	c.621G>A	c.(619-621)AGG>AGA	p.R207R		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	207	Rod.|Linker 1.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52884922	52884922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52884922C>T	uc001sam.2	-	3	999	c.790G>A	c.(790-792)GAG>AAG	p.E264K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	264	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911395	52911395	+	Silent	SNP	G	A	A	rs149467228	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52911395G>A	uc001san.2	-	5	1234	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	KRT5_uc009zmh.2_Silent_p.A357A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	357	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53040608	53040608	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53040608T>C	uc001sat.2	-	7	1418	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	462	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)														---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53086570	53086570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53086570A>C	uc001saw.2	-	6	1204	c.1175T>G	c.(1174-1176)CTG>CGG	p.L392R	KRT77_uc009zmi.2_Missense_Mutation_p.L150R	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	392	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1																		---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53165877	53165877	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53165877C>T	uc001sax.2	-	5	1191	c.1137_splice	c.e5+1	p.K379_splice		NM_015848	NP_056932			keratin 76						cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2																		---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227765	53227765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53227765C>T	uc001sbb.2	-	1	313	c.280G>A	c.(280-282)GCA>ACA	p.A94T		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	94	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647656	53647656	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53647656C>T	uc001sci.1	+	2	1228	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	MFSD5_uc001sch.1_Missense_Mutation_p.A453V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	346	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53703514	53703514	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53703514G>T	uc001scr.3	-						AAAS_uc001scs.3_Intron	NM_015665	NP_056480			achalasia, adrenocortical insufficiency,						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1																		---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879982	53879982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53879982C>T	uc001sdm.1	-	5	678	c.580G>A	c.(580-582)GCC>ACC	p.A194T	MAP3K12_uc001sdn.1_Missense_Mutation_p.A227T	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	194	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899798	53899798	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899798T>C	uc001sdo.2	+	9	1455	c.967T>C	c.(967-969)TGC>CGC	p.C323R	TARBP2_uc001sdp.2_Missense_Mutation_p.C302R|TARBP2_uc001sdq.2_Missense_Mutation_p.C179R|TARBP2_uc001sdr.2_Missense_Mutation_p.C179R|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Missense_Mutation_p.C302R|TARBP2_uc001sdu.2_Missense_Mutation_p.C179R|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	323	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899914	53899914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899914C>T	uc001sdo.2	+	9	1571	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	TARBP2_uc001sdp.2_Silent_p.I340I|TARBP2_uc001sdq.2_Silent_p.I217I|TARBP2_uc001sdr.2_Silent_p.I217I|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.I340I|TARBP2_uc001sdu.2_Silent_p.I217I|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	361	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53901178	53901178	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53901178C>A	uc001sdw.1	-	1	245	c.81G>T	c.(79-81)CAG>CAT	p.Q27H		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	27					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0																		---	---	---	---
ATP5G2	517	broad.mit.edu	37	12	54063713	54063713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54063713A>G	uc009znc.2	-	4	760	c.59T>C	c.(58-60)CTG>CCG	p.L20P	ATP5G2_uc001sec.2_Missense_Mutation_p.L77P|ATP5G2_uc001sed.2_Missense_Mutation_p.L36P	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	20					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1																		---	---	---	---
HOXC12	3228	broad.mit.edu	37	12	54348796	54348796	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54348796A>G	uc010soq.1	+	1	83	c.83A>G	c.(82-84)AAC>AGC	p.N28S		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	28					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54797044	54797044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54797044G>A	uc001sga.2	-	18	1909	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	614	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																		---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54922129	54922129	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54922129A>T	uc001sgc.3	+	22	2553	c.2474A>T	c.(2473-2475)AAC>ATC	p.N825I	NCKAP1L_uc010sox.1_Missense_Mutation_p.N367I|NCKAP1L_uc010soy.1_Missense_Mutation_p.N775I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	825					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54968964	54968964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54968964C>T	uc001sgd.1	+	11	1313	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	PDE1B_uc010soz.1_Missense_Mutation_p.R246C|PDE1B_uc010spa.1_Missense_Mutation_p.R342C|PDE1B_uc001sgf.2_Missense_Mutation_p.R246C|PDE1B_uc001sge.2_Missense_Mutation_p.R363C|PDE1B_uc009znq.2_Missense_Mutation_p.R179C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	383	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
PPP1R1A	5502	broad.mit.edu	37	12	54974788	54974788	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54974788T>C	uc001sgg.2	-	6	621	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	150	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641092	55641092	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641092A>G	uc010spg.1	+	1	21	c.21A>G	c.(19-21)GTA>GTG	p.V7V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641717	55641717	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641717T>C	uc010spg.1	+	1	646	c.646T>C	c.(646-648)TAC>CAC	p.Y216H		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55714599	55714599	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55714599A>C	uc010spi.1	+	1	216	c.216A>C	c.(214-216)ACA>ACC	p.T72T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715169	55715169	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715169A>G	uc010spi.1	+	1	786	c.786A>G	c.(784-786)GCA>GCG	p.A262A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715233	55715233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715233A>G	uc010spi.1	+	1	850	c.850A>G	c.(850-852)AAC>GAC	p.N284D		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56091226	56091226	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56091226C>T	uc001shh.2	-						ITGA7_uc001shg.2_Intron|ITGA7_uc010sps.1_Intron|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Intron	NM_001144996	NP_001138468			integrin alpha 7 isoform 1 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
BLOC1S1	2647	broad.mit.edu	37	12	56112932	56112932	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56112932G>T	uc009zny.1	+	3	292	c.276G>T	c.(274-276)CAG>CAT	p.Q92H	BLOC1S1_uc001shi.2_Missense_Mutation_p.Q64H|BLOC1S1_uc001shj.3_Missense_Mutation_p.Q92H|RDH5_uc010spt.1_5'Flank|RDH5_uc010spu.1_5'Flank|RDH5_uc001shk.2_5'Flank|RDH5_uc001shl.2_5'Flank			P78537	BL1S1_HUMAN	RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;	92					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding				0																		---	---	---	---
RDH5	5959	broad.mit.edu	37	12	56115638	56115638	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56115638T>A	uc001shk.2	+	3	659	c.476T>A	c.(475-477)ATC>AAC	p.I159N	BLOC1S1_uc001shj.3_3'UTR|RDH5_uc010spt.1_Missense_Mutation_p.I159N|RDH5_uc010spu.1_Missense_Mutation_p.I62N|RDH5_uc001shl.2_Missense_Mutation_p.I159N	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	159					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384499	56384499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56384499G>A	uc001siv.2	+	4	466	c.349G>A	c.(349-351)GAA>AAA	p.E117K	RAB5B_uc001siw.2_Missense_Mutation_p.E117K|RAB5B_uc009zog.2_Missense_Mutation_p.E57K|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56478899	56478899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56478899G>A	uc001sjh.2	+	3	548	c.355G>A	c.(355-357)GTC>ATC	p.V119I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V60I|ERBB3_uc001sjg.2_Missense_Mutation_p.V119I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	119	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56493660	56493660	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56493660C>A	uc001sjh.2	+	25	3169	c.2976C>A	c.(2974-2976)CCC>CCA	p.P992P	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Silent_p.P349P|ERBB3_uc010sqc.1_Silent_p.P933P|ERBB3_uc009zok.2_Silent_p.P257P|ERBB3_uc001sjk.2_Silent_p.P233P|ERBB3_uc001sjl.2_Silent_p.P112P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	992	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56526307	56526307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56526307C>T	uc001sjq.2	+	9	1137	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	ESYT1_uc001sjr.2_Missense_Mutation_p.R363C	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	363	C2 1.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56530569	56530569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56530569G>A	uc001sjq.2	+	16	1724	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T	ESYT1_uc001sjr.2_Silent_p.T568T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	558	C2 2.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531271	56531271	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56531271T>C	uc001sjq.2	+						ESYT1_uc001sjr.2_Intron	NM_015292	NP_056107			extended synaptotagmin-like protein 1							integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56625260	56625260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56625260G>T	uc010sqj.1	+	4	459	c.202G>T	c.(202-204)GGC>TGC	p.G68C	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.G68C	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	68	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56630717	56630717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56630717G>A	uc010sqj.1	+	11	1467	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	SLC39A5_uc010sqk.1_Missense_Mutation_p.A404T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	404	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56719213	56719213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56719213T>C	uc001skx.2	-	9	1758	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D462G|PAN2_uc001sky.2_Missense_Mutation_p.D462G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	462					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811707	56811707	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56811707A>G	uc001slf.2	-	28	3708	c.3540T>C	c.(3538-3540)GAT>GAC	p.D1180D		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1180					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56822332	56822332	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56822332C>T	uc001slf.2	-	12	1576	c.1408_splice	c.e12+1	p.N470_splice	TIMELESS_uc001slg.2_Splice_Site_p.N469_splice	NM_003920	NP_003911			timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
TMEM194A	23306	broad.mit.edu	37	12	57466637	57466637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57466637G>A	uc001smy.2	-	2	232	c.186C>T	c.(184-186)GCC>GCT	p.A62A	TMEM194A_uc001smx.2_Silent_p.A62A|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	62						integral to membrane					0																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57550055	57550055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57550055G>A	uc001snd.2	+	9	1872	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	469	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57553773	57553773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57553773T>C	uc001snd.2	+	12	2430	c.1964T>C	c.(1963-1965)GTG>GCG	p.V655A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	655	LDL-receptor class B 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57561277	57561277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57561277T>C	uc001snd.2	+	19	3431	c.2965T>C	c.(2965-2967)TGT>CGT	p.C989R	LRP1_uc009zph.1_RNA|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	989	Extracellular (Potential).|LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573210	57573210	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57573210G>A	uc001snd.2	+	29	5303	c.4837G>A	c.(4837-4839)GAC>AAC	p.D1613N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1613	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
NXPH4	11247	broad.mit.edu	37	12	57619127	57619127	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57619127C>A	uc010srf.1	+	2	699	c.524C>A	c.(523-525)CCT>CAT	p.P175H	NXPH4_uc009zpj.2_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	175	IV (linker domain).				neuropeptide signaling pathway	extracellular region					0																		---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638384	57638384	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638384G>A	uc001snp.2	-	9	937	c.742C>T	c.(742-744)CAG>TAG	p.Q248*	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Nonsense_Mutation_p.Q209*|STAC3_uc010srm.1_Nonsense_Mutation_p.Q62*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	248	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638744	57638744	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638744G>A	uc001snp.2	-	8	870	c.675C>T	c.(673-675)AAC>AAT	p.N225N	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.N186N|STAC3_uc010srm.1_Silent_p.N39N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	225					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638988	57638988	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638988C>A	uc001snp.2	-	7	805	c.610G>T	c.(610-612)GCA>TCA	p.A204S	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.A165S|STAC3_uc010srm.1_Missense_Mutation_p.A18S	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	204					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57865375	57865375	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57865375G>A	uc001snx.2	+	12	2930	c.2852G>A	c.(2851-2853)GGC>GAC	p.G951D	GLI1_uc009zpq.2_Missense_Mutation_p.G823D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	951					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---
MARS	4141	broad.mit.edu	37	12	57908808	57908808	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57908808C>T	uc001sog.2	+	17	2194	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.P490L|MARS_uc001soh.1_Missense_Mutation_p.P119L	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	724					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)													---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57963431	57963431	+	Missense_Mutation	SNP	C	T	T	rs121434444		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994595	57994595	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57994595T>C	uc001sou.2	+	8	946	c.815T>C	c.(814-816)TTT>TCT	p.F272S	PIP4K2C_uc001sot.2_Missense_Mutation_p.F272S|PIP4K2C_uc010srs.1_Missense_Mutation_p.F254S|PIP4K2C_uc010srt.1_Missense_Mutation_p.F224S	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)																	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58109590	58109590	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58109590C>T	uc001spj.2	+	6	686	c.627C>T	c.(625-627)CGC>CGT	p.R209R	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.R209R|OS9_uc001spl.2_Silent_p.R209R|OS9_uc001spm.2_Silent_p.R209R|OS9_uc001spn.2_Silent_p.R209R|OS9_uc010sry.1_Silent_p.R176R|OS9_uc010srz.1_Silent_p.R150R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	209					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
FAM119B	25895	broad.mit.edu	37	12	58174222	58174222	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58174222C>A	uc001sqg.2	+	3	599	c.474C>A	c.(472-474)ACC>ACA	p.T158T	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	158	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XRCC6BP1	91419	broad.mit.edu	37	12	58335598	58335598	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58335598G>A	uc001sqp.2	+	1	154	c.114G>A	c.(112-114)CAG>CAA	p.Q38Q		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	38					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1																		---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59282123	59282123	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59282123T>G	uc001sqr.2	-	7	1181	c.935A>C	c.(934-936)AAG>ACG	p.K312T	LRIG3_uc009zqh.2_Missense_Mutation_p.K252T|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	312	LRR 11.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)															---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62148809	62148809	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62148809C>T	uc001sqw.2	-						FAM19A2_uc001sqv.2_Intron|FAM19A2_uc001sqx.2_Intron|FAM19A2_uc001sqy.2_Intron	NM_178539	NP_848634			family with sequence similarity 19 (chemokine							cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)														---	---	---	---
MON2	23041	broad.mit.edu	37	12	62949898	62949898	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62949898C>T	uc001sre.2	+	25	3726	c.3335C>T	c.(3334-3336)GCT>GTT	p.A1112V	MON2_uc009zqj.2_Missense_Mutation_p.A1112V|MON2_uc010ssl.1_Missense_Mutation_p.A1040V|MON2_uc010ssm.1_Missense_Mutation_p.A1089V|MON2_uc010ssn.1_Missense_Mutation_p.A1112V|MON2_uc001srf.2_Missense_Mutation_p.A875V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1113					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64536071	64536071	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64536071A>T	uc010ssp.1	+						SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813			SLIT-ROBO Rho GTPase activating protein 1						axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)														---	---	---	---
C12orf56	115749	broad.mit.edu	37	12	64746772	64746772	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64746772A>G	uc001ssa.3	-	2	317	c.317T>C	c.(316-318)ATC>ACC	p.I106T	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	106											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)														---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64878159	64878159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)														---	---	---	---
GNS	2799	broad.mit.edu	37	12	65110533	65110533	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65110533T>G	uc001ssg.3	-	14	1817	c.1647A>C	c.(1645-1647)AAA>AAC	p.K549N	GNS_uc001ssf.2_Missense_Mutation_p.K493N|GNS_uc010ssq.1_Missense_Mutation_p.K581N|GNS_uc010ssr.1_Missense_Mutation_p.K529N	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	549						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)														---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69202995	69202995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69202995T>C	uc001sui.2	+	2	309	c.22T>C	c.(22-24)TGC>CGC	p.C8R	MDM2_uc009zri.2_Missense_Mutation_p.C8R|MDM2_uc009zqx.2_Missense_Mutation_p.C8R|MDM2_uc009zqw.2_Missense_Mutation_p.C8R|MDM2_uc001suk.2_Missense_Mutation_p.C8R|MDM2_uc009zqy.1_5'UTR|MDM2_uc001sun.3_5'UTR|MDM2_uc009zqz.2_Missense_Mutation_p.C2R|MDM2_uc009zra.2_Missense_Mutation_p.C2R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_5'UTR|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_5'UTR|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_5'UTR|MDM2_uc009zrg.2_5'UTR|MDM2_uc009zrh.2_5'UTR	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	2	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)					A		sarcoma|glioma|colorectal|other								---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69652831	69652831	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69652831C>T	uc001sut.3	+	6	1266	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	CPSF6_uc001suu.3_Nonsense_Mutation_p.R423*|CPSF6_uc010stk.1_Nonsense_Mutation_p.R17*	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	386	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)															---	---	---	---
LYZ	4069	broad.mit.edu	37	12	69742245	69742245	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69742245G>T	uc001suw.2	+	1	112	c.57G>T	c.(55-57)AAG>AAT	p.K19N		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	19					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)															---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968696	69968696	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69968696T>C	uc001suy.2	+	10	1998	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	FRS2_uc001suz.2_Silent_p.S496S|FRS2_uc009zrj.2_Silent_p.S496S|FRS2_uc009zrk.2_Silent_p.S496S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70149411	70149411	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70149411T>C	uc001svp.2	+	2	718	c.271T>C	c.(271-273)TTA>CTA	p.L91L	RAB3IP_uc001svl.1_Silent_p.L75L|RAB3IP_uc001svm.2_Silent_p.L75L|RAB3IP_uc001svn.2_Silent_p.L75L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L91L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	91					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71050594	71050594	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71050594T>A	uc001swi.1	-	13	2186	c.1770A>T	c.(1768-1770)GCA>GCT	p.A590A	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Silent_p.A345A|PTPRR_uc009zrs.2_Silent_p.A439A|PTPRR_uc010stq.1_Silent_p.A478A	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	590	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).|Substrate binding (By similarity).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)														---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72024378	72024378	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72024378A>C	uc001swo.2	-	18	4083	c.3724_splice	c.e18+1	p.E1242_splice		NM_144982	NP_659419			proline/serine-rich coiled-coil 2						RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72265950	72265950	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72265950T>C	uc001swu.2	+	2	204	c.195_splice	c.e2+2	p.K65_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc010stt.1_Splice_Site_p.K51_splice|TBC1D15_uc001swv.2_Splice_Site_p.K65_splice|TBC1D15_uc001sww.2_Splice_Site	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72316783	72316783	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72316783T>C	uc001swu.2	+	18	1950	c.1941T>C	c.(1939-1941)TGT>TGC	p.C647C	TBC1D15_uc010stt.1_Silent_p.C616C|TBC1D15_uc001swv.2_Silent_p.C630C|TBC1D15_uc001sww.2_Silent_p.C379C	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	625							protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667178	72667178	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72667178G>T	uc001sxa.2	+	1	650	c.620G>T	c.(619-621)GGT>GTT	p.G207V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	207	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76772266	76772266	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76772266A>T	uc001sye.1	-	16	2175	c.1695T>A	c.(1693-1695)GAT>GAA	p.D565E	OSBPL8_uc001syf.1_Missense_Mutation_p.D523E|OSBPL8_uc001syg.1_Missense_Mutation_p.D523E|OSBPL8_uc001syh.1_Missense_Mutation_p.D540E	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	565					lipid transport		lipid binding			ovary(1)	1																		---	---	---	---
CSRP2	1466	broad.mit.edu	37	12	77259935	77259935	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77259935G>C	uc001syl.1	-	2	189	c.106C>G	c.(106-108)CTC>GTC	p.L36V		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449736	77449736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449736G>T	uc001sym.3	-	3	504	c.268C>A	c.(268-270)CTC>ATC	p.L90I	E2F7_uc001syn.2_Missense_Mutation_p.L90I	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	90					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449893	77449893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449893A>T	uc001sym.3	-	3	347	c.111T>A	c.(109-111)GAT>GAA	p.D37E	E2F7_uc001syn.2_Missense_Mutation_p.D37E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	37					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400965	78400965	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400965A>G	uc001syp.2	+	8	1820	c.1647A>G	c.(1645-1647)AAA>AAG	p.K549K	NAV3_uc001syo.2_Silent_p.K549K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78516145G>A	uc001syp.2	+	16	4348	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78570943	78570943	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78570943C>T	uc001syp.2	+	27	5320	c.5147C>T	c.(5146-5148)GCC>GTC	p.A1716V	NAV3_uc001syo.2_Missense_Mutation_p.A1716V|NAV3_uc010sub.1_Missense_Mutation_p.A1195V|NAV3_uc009zsf.2_Missense_Mutation_p.A547V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1716						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
MIR1252	100302136	broad.mit.edu	37	12	79813047	79813047	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:79813047A>G	hsa-mir-1252|MI0006434	+			c.11A>G			SYT1_uc001sys.2_Intron|SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80750253	80750253	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80750253T>C	uc009zsg.1	+						uc001szd.2_5'Flank					RecName: Full=Uncharacterized protein C12orf64;																														---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81537029	81537029	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81537029A>G	uc001szl.1	+						ACSS3_uc001szm.1_Intron	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81833805	81833805	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81833805A>G	uc001szo.1	-	7	752	c.591T>C	c.(589-591)GTT>GTC	p.V197V	PPFIA2_uc010sue.1_Silent_p.V97V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	123										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83251004	83251004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83251004G>A	uc001szt.2	+	2	731	c.299G>A	c.(298-300)GGT>GAT	p.G100D	TMTC2_uc001szr.1_Missense_Mutation_p.G100D|TMTC2_uc001szs.1_Missense_Mutation_p.G100D|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	100	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83379836	83379836	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83379836G>A	uc001szt.2	+						TMTC2_uc001szs.1_Missense_Mutation_p.R694H|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801			transmembrane and tetratricopeptide repeat							endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83526060	83526060	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83526060C>T	uc001szt.2	+	12	2835	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	TMTC2_uc010suk.1_Silent_p.N556N	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	801	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85449486	85449486	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85449486A>G	uc001tac.2	+	8	1026	c.915A>G	c.(913-915)CCA>CCG	p.P305P	LRRIQ1_uc001tab.1_Silent_p.P305P|LRRIQ1_uc001taa.1_Silent_p.P280P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	305	IQ 1.|Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85517836	85517836	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85517836T>C	uc001tac.2	+						LRRIQ1_uc001tab.1_Intron	NM_001079910	NP_001073379			leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88454773	88454773	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88454773T>C	uc001tar.2	-	47	6702	c.6358_splice	c.e47-1	p.S2120_splice	CEP290_uc001taq.2_Splice_Site_p.S1180_splice	NM_025114	NP_079390			centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88584371	88584371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88584371C>T	uc001tau.2	+	12	1898	c.1678C>T	c.(1678-1680)CCC>TCC	p.P560S		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	560	TPR 4.					integral to membrane	binding			skin(1)	1																		---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917932	89917932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89917932C>A	uc001tbd.2	-	1	604	c.395G>T	c.(394-396)AGG>ATG	p.R132M	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.R129M|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	132	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0																OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	89997947	89997947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89997947G>A	uc001tbh.2	-	15	2800	c.2619C>T	c.(2617-2619)GGC>GGT	p.G873G	ATP2B1_uc001tbg.2_Silent_p.G873G|ATP2B1_uc001tbf.2_Silent_p.G543G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	873	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCN	1634	broad.mit.edu	37	12	91539849	91539849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91539849C>T	uc001tbs.2	-	7	1160	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	DCN_uc001tbo.2_Missense_Mutation_p.G247R|DCN_uc001tbp.2_Missense_Mutation_p.G209R|DCN_uc001tbq.2_Missense_Mutation_p.G169R|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.G356R|DCN_uc001tbu.2_Missense_Mutation_p.G356R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	356	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4																		---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975728	94975728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94975728T>C	uc001tdj.2	-	2	783	c.665A>G	c.(664-666)CAC>CGC	p.H222R	TMCC3_uc001tdi.2_Missense_Mutation_p.H191R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	222						integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95656842	95656842	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95656842C>T	uc001tdz.2	+	4	524	c.419C>T	c.(418-420)GCA>GTA	p.A140V	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.A92V|VEZT_uc001tdt.2_Missense_Mutation_p.A92V|VEZT_uc009zsz.1_Missense_Mutation_p.A140V|VEZT_uc001tdv.2_Missense_Mutation_p.A109V|VEZT_uc001tdw.1_Missense_Mutation_p.A92V|VEZT_uc009zta.1_Missense_Mutation_p.A92V	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	140	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95668625	95668625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95668625C>T	uc001tdz.2	+	7	1061	c.956C>T	c.(955-957)GCA>GTA	p.A319V	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	319						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96288811	96288811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96288811G>A	uc001tek.1	-	8	962	c.728C>T	c.(727-729)GCA>GTA	p.A243V		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	243										skin(1)	1																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98927983	98927983	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98927983C>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Missense_Mutation_p.R650C	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98928112	98928112	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98928112A>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Nonsense_Mutation_p.K693*	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
GOLGA2B	55592	broad.mit.edu	37	12	100551023	100551023	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100551023C>T	uc001tgs.2	-	5	746	c.302G>A	c.(301-303)CGC>CAC	p.R101H	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101H|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100729611	100729611	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100729611A>G	uc001thn.2	+	16	2002	c.1952A>G	c.(1951-1953)AAC>AGC	p.N651S	SCYL2_uc001thm.1_Missense_Mutation_p.N651S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	651					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100813785	100813785	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100813785G>A	uc010svi.1	+	12	1931	c.1618G>A	c.(1618-1620)GCG>ACG	p.A540T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A490T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	540	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	100995406	100995406	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100995406A>T	uc001thu.2	+						GAS2L3_uc009zty.2_Intron|GAS2L3_uc001thv.2_Intron	NM_174942	NP_777602			growth arrest-specific 2 like 3						cell cycle arrest					skin(1)	1																		---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101336299	101336299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101336299C>A	uc010svm.1	+	5	1014	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q113K|ANO4_uc001thx.2_Missense_Mutation_p.Q148K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	148	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603516	101603516	+	Silent	SNP	G	A	A	rs141426258	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101603516G>A	uc001thz.3	-	1	501	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	37	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101693535	101693535	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101693535T>A	uc001tia.1	+	13	1662	c.1506T>A	c.(1504-1506)TCT>TCA	p.S502S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	502					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101713323	101713323	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101713323G>T	uc001tia.1	+	23	2895	c.2739G>T	c.(2737-2739)AAG>AAT	p.K913N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	913					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101773254	101773254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101773254A>G	uc001tia.1	+	57	7658	c.7502A>G	c.(7501-7503)CAA>CGA	p.Q2501R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2501					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108316	102108316	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108316C>A	uc001tin.2	+	3	679	c.456C>A	c.(454-456)CGC>CGA	p.R152R	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.R152R	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	152					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108321	102108321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108321G>A	uc001tin.2	+	3	684	c.461G>A	c.(460-462)GGA>GAA	p.G154E	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G154E	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	154	Helical; (Potential).				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102151087	102151087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102151087A>C	uc001tit.2	-	18	3516	c.3337T>G	c.(3337-3339)TTT>GTT	p.F1113V		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1113					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC53	51019	broad.mit.edu	37	12	102439888	102439888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102439888C>T	uc010svw.1	-	3	319	c.160G>A	c.(160-162)GAC>AAC	p.D54N	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.D54N	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	54	Potential.					WASH complex	protein binding				0																		---	---	---	---
C12orf48	55010	broad.mit.edu	37	12	102558392	102558392	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102558392G>A	uc001tjf.2	+						C12orf48_uc001tje.2_Nonsense_Mutation_p.W143*|C12orf48_uc001tjg.2_Intron|C12orf48_uc010swa.1_Intron|C12orf48_uc001tjh.2_Intron|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Intron|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385			hypothetical protein LOC55010						response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104179252	104179252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104179252T>A	uc010swe.1	-	12	1231	c.1190A>T	c.(1189-1191)GAT>GTT	p.D397V		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	397							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TDG	6996	broad.mit.edu	37	12	104373771	104373771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104373771G>A	uc001tkg.2	+	3	552	c.329G>A	c.(328-330)CGT>CAT	p.R110H	TDG_uc010swh.1_Missense_Mutation_p.R110H|TDG_uc009zuk.2_Missense_Mutation_p.R106H|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	110					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)									BER_DNA_glycosylases					---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104682799	104682799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104682799G>A	uc010swk.1	+	4	417	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.G34D|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_5'UTR|TXNRD1_uc010swq.1_Missense_Mutation_p.G32D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_5'Flank	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	132	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0																		---	---	---	---
EID3	493861	broad.mit.edu	37	12	104697736	104697736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104697736G>T	uc001tkw.2	+	1	188	c.24G>T	c.(22-24)AGG>AGT	p.R8S	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0																		---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105151226	105151226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105151226T>A	uc001tkx.1	+	4	995	c.704T>A	c.(703-705)GTC>GAC	p.V235D	CHST11_uc001tky.2_Missense_Mutation_p.V230D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	235	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0																		---	---	---	---
SLC41A2	84102	broad.mit.edu	37	12	105199107	105199107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105199107G>A	uc001tla.2	-	10	1712	c.1545C>T	c.(1543-1545)ACC>ACT	p.T515T		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	515	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632882	106632882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632882C>T	uc001tlk.2	-	2	1813	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	577	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632988	106632988	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632988G>T	uc001tlk.2	-	2	1707	c.1623C>A	c.(1621-1623)GCC>GCA	p.A541A		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	541	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106633214	106633214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106633214T>A	uc001tlk.2	-	2	1481	c.1397A>T	c.(1396-1398)GAT>GTT	p.D466V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	466						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
TCP11L2	255394	broad.mit.edu	37	12	106729566	106729566	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106729566C>G	uc001tln.2	+	7	1096	c.922C>G	c.(922-924)CTG>GTG	p.L308V		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	308										ovary(3)	3																		---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106821127	106821127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106821127T>C	uc001tlp.2	+	13	1476	c.1254T>C	c.(1252-1254)GCT>GCC	p.A418A	POLR3B_uc001tlq.2_Silent_p.A360A	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	418					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107103144	107103144	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107103144G>T	uc001tlr.2	+	9	936	c.870G>T	c.(868-870)CTG>CTT	p.L290L	RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.L299L|RFX4_uc001tlt.2_Silent_p.L299L|RFX4_uc001tlv.2_Silent_p.L196L	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	290					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107155091	107155091	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107155091C>T	uc001tlr.2	+	18	2118	c.2052C>T	c.(2050-2052)TGC>TGT	p.C684C	RFX4_uc001tlt.2_Silent_p.C693C|RFX4_uc001tlv.2_Silent_p.C590C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	684					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107415864	107415864	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107415864T>C	uc001tmi.3	-	2	1124	c.265A>G	c.(265-267)AAG>GAG	p.K89E		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	89	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3																		---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	108011113	108011113	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108011113G>A	uc001tmk.1	+	9	2652	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.G711S|BTBD11_uc001tml.1_Missense_Mutation_p.G248S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	711	ANK 3.					integral to membrane	DNA binding			skin(2)|ovary(1)	3																		---	---	---	---
PRDM4	11108	broad.mit.edu	37	12	108136132	108136132	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108136132T>C	uc001tmp.2	-						PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_Intron	NM_012406	NP_036538			PR domain containing 4						cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
FICD	11153	broad.mit.edu	37	12	108912565	108912565	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108912565A>G	uc001tmx.1	+	3	836	c.690A>G	c.(688-690)ACA>ACG	p.T230T		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	230					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0																		---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109046095	109046095	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109046095A>G	uc001tnj.2	-	8	1050	c.954T>C	c.(952-954)GGT>GGC	p.G318G	CORO1C_uc009zva.2_Silent_p.G371G|CORO1C_uc010sxf.1_Silent_p.G281G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	318					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3																		---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109182581	109182581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109182581G>A	uc001tnm.2	-	15	2420	c.2333C>T	c.(2332-2334)TCA>TTA	p.S778L	SSH1_uc001tnl.2_Missense_Mutation_p.S466L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	778					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
USP30	84749	broad.mit.edu	37	12	109519161	109519161	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109519161T>C	uc010sxi.1	+	8	847	c.743T>C	c.(742-744)TTT>TCT	p.F248S	USP30_uc001tnu.3_Missense_Mutation_p.F217S|USP30_uc001tnw.3_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	248	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1																		---	---	---	---
ACACB	32	broad.mit.edu	37	12	109625968	109625968	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109625968G>A	uc001tob.2	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_uc001toc.2_Splice_Site_p.S715_splice	NM_001093	NP_001084			acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109845668	109845668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109845668C>T	uc010sxn.1	+	9	1057	c.1057C>T	c.(1057-1059)CGA>TGA	p.R353*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0																		---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109945425	109945425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109945425G>A	uc001top.2	+	15	2110	c.1507G>A	c.(1507-1509)GGG>AGG	p.G503R	UBE3B_uc001toq.2_Missense_Mutation_p.G503R|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G503R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110427530	110427530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110456152	110456152	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110456152C>T	uc001tpx.2	+	5	662	c.403C>T	c.(403-405)CCC>TCC	p.P135S	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.P135S|ANKRD13A_uc010sxw.1_Missense_Mutation_p.P135S	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	135											0																		---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110566827	110566827	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110566827G>A	uc001tqi.2	+	4	451	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q	IFT81_uc001tqh.2_Silent_p.Q107Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.Q107Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	107					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111089064	111089064	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111089064G>A	uc001trs.1	-	6	766	c.601C>T	c.(601-603)CTG>TTG	p.L201L	HVCN1_uc001trq.1_Silent_p.L201L|HVCN1_uc001trt.1_Silent_p.L201L|HVCN1_uc010syd.1_Silent_p.L181L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	201	Helical; Name=Segment S4; (By similarity).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1																		---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111317857	111317857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111317857G>A	uc001trv.1	+	6	832	c.637G>A	c.(637-639)GCC>ACC	p.A213T	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.A173T|CCDC63_uc001trw.1_Missense_Mutation_p.A128T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	213										skin(6)|ovary(1)|pancreas(1)	8																		---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112572809	112572809	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112572809T>G	uc001ttp.2	+						TRAFD1_uc001tto.2_Intron|TRAFD1_uc009zwb.2_Intron|TRAFD1_uc010syj.1_Intron	NM_006700	NP_006691			TRAF-type zinc finger domain containing 1						negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112707608	112707608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112707608C>T	uc009zwc.2	-	6	943	c.925G>A	c.(925-927)GAC>AAC	p.D309N	C12orf51_uc010syk.1_Missense_Mutation_p.D132N|C12orf51_uc001tts.2_Missense_Mutation_p.D132N|C12orf51_uc001ttt.3_Missense_Mutation_p.D132N	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112708191	112708191	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112708191A>T	uc009zwc.2	-	5	737	c.719T>A	c.(718-720)CTC>CAC	p.L240H	C12orf51_uc010syk.1_Missense_Mutation_p.L63H|C12orf51_uc001tts.2_Missense_Mutation_p.L63H|C12orf51_uc001ttt.3_Missense_Mutation_p.L63H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112891074	112891074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112891074T>C	uc001ttx.2	+	4	788	c.408T>C	c.(406-408)CTT>CTC	p.L136L	PTPN11_uc001ttw.1_Silent_p.L136L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	136	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392								Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307841	113307841	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113307841G>T	uc010syl.1	+	10	1155	c.793G>T	c.(793-795)GCA>TCA	p.A265S	RPH3A_uc001ttz.2_Missense_Mutation_p.A265S|RPH3A_uc001tty.2_Missense_Mutation_p.A261S|RPH3A_uc009zwe.1_Missense_Mutation_p.A261S|RPH3A_uc010sym.1_Missense_Mutation_p.A216S|RPH3A_uc001tua.2_Missense_Mutation_p.A25S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	265	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)														---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113379524	113379524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113379524G>A	uc001tug.2	+	2	414	c.327G>A	c.(325-327)TGG>TGA	p.W109*	OAS3_uc001tue.2_Nonsense_Mutation_p.W109*|OAS3_uc001tuf.2_Nonsense_Mutation_p.W109*	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	109	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113496081	113496081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113496081G>A	uc001tuk.1	+	1	420	c.84G>A	c.(82-84)TGG>TGA	p.W28*		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	28	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113603808	113603808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113603808G>A	uc001tup.2	-	13	1472	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	DDX54_uc001tuq.3_Missense_Mutation_p.R482W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	482					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
C12orf52	84934	broad.mit.edu	37	12	113629143	113629143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113629143G>A	uc001tur.1	+	4	799	c.331G>A	c.(331-333)GAT>AAT	p.D111N	C12orf52_uc009zwg.1_Missense_Mutation_p.D108N|C12orf52_uc001tus.1_Missense_Mutation_p.D111N|C12orf52_uc001tut.1_Missense_Mutation_p.D135N	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	111					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113633490	113633490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113633490A>G	uc001tuu.2	-	3	1106	c.934T>C	c.(934-936)TAT>CAT	p.Y312H		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1																		---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113906051	113906051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113906051T>C	uc001tvj.1	-	3	1130	c.556A>G	c.(556-558)ACC>GCC	p.T186A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	186	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114364873	114364873	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114364873C>A	uc009zwi.2	-	17	2374	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	RBM19_uc001tvn.3_Nonsense_Mutation_p.E744*|RBM19_uc001tvm.2_Nonsense_Mutation_p.E744*	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	744	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114377843	114377843	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114377843C>A	uc009zwi.2	-	15	2004	c.1860G>T	c.(1858-1860)GAG>GAT	p.E620D	RBM19_uc001tvn.3_Missense_Mutation_p.E620D|RBM19_uc001tvm.2_Missense_Mutation_p.E620D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	620	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114397977	114397977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114397977A>G	uc009zwi.2	-	3	370	c.226T>C	c.(226-228)TTC>CTC	p.F76L	RBM19_uc001tvn.3_Missense_Mutation_p.F76L|RBM19_uc001tvm.2_Missense_Mutation_p.F76L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	76	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114837433	114837433	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114837433T>A	uc001tvo.2	-	4	742	c.247A>T	c.(247-249)ATG>TTG	p.M83L	TBX5_uc001tvp.2_Missense_Mutation_p.M83L|TBX5_uc001tvq.2_Missense_Mutation_p.M33L|TBX5_uc010syv.1_Missense_Mutation_p.M83L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	83	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116445236	116445236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116445236C>A	uc001tvw.2	-	11	2273	c.2218G>T	c.(2218-2220)GAT>TAT	p.D740Y		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116446399	116446399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116446399G>T	uc001tvw.2	-	10	1874	c.1819C>A	c.(1819-1821)CCT>ACT	p.P607T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	607					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
C12orf49	79794	broad.mit.edu	37	12	117160913	117160913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117160913C>T	uc001tvz.1	-	2	365	c.227G>A	c.(226-228)CGC>CAC	p.R76H	C12orf49_uc009zwm.1_Intron	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	76						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)														---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117365830	117365830	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117365830T>C	uc001twg.1	+	2	403	c.321T>C	c.(319-321)AAT>AAC	p.N107N	FBXW8_uc001twf.1_Silent_p.N41N|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	107							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117615411	117615411	+	Missense_Mutation	SNP	A	T	T	rs34443379		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117615411A>T	uc001twk.2	-	4	545	c.506T>A	c.(505-507)ATT>AAT	p.I169N	FBXO21_uc001twj.2_Missense_Mutation_p.I169N|FBXO21_uc009zwq.2_Missense_Mutation_p.I169N	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117962760	117962760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117962760C>T	uc001two.2	-	14	2084	c.2029G>A	c.(2029-2031)GCC>ACC	p.A677T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	706	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RFC5	5985	broad.mit.edu	37	12	118463644	118463644	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118463644A>G	uc001twq.2	+						RFC5_uc010syx.1_Intron|RFC5_uc010syy.1_Intron|RFC5_uc010syz.1_Intron|RFC5_uc009zwr.2_Intron	NM_007370	NP_031396			replication factor C 5 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118473035	118473035	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118473035T>C	uc001twr.2	-	7	1026	c.928A>G	c.(928-930)ACG>GCG	p.T310A	WSB2_uc010sza.1_Missense_Mutation_p.T85A|WSB2_uc010szb.1_Missense_Mutation_p.T100A|WSB2_uc009zws.1_Missense_Mutation_p.T310A	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	310	WD 5.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)															OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118599655	118599655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118599655G>A	uc001twx.2	-	18	2372	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	TAOK3_uc001twv.2_Nonsense_Mutation_p.R233*|TAOK3_uc001tww.2_Nonsense_Mutation_p.R523*|TAOK3_uc001twy.3_Nonsense_Mutation_p.R693*	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	693					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419782	119419782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119419782T>A	uc001txa.1	+	1	387	c.95T>A	c.(94-96)ATT>AAT	p.I32N		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	32					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119568536	119568536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119568536G>A	uc001txa.1	+	8	960	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	223	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119631646	119631646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119631646G>A	uc001txb.2	+	3	1097	c.574G>A	c.(574-576)GAA>AAA	p.E192K	HSPB8_uc001txc.2_3'UTR	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	192					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119909923	119909923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119909923C>T	uc001txe.2	+	3	760	c.295C>T	c.(295-297)CCA>TCA	p.P99S	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	99										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)														---	---	---	---
CIT	11113	broad.mit.edu	37	12	120295414	120295414	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120295414A>G	uc001txi.1	-	4	380	c.327T>C	c.(325-327)GCT>GCC	p.A109A	CIT_uc001txj.1_Silent_p.A109A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	109	ATP (By similarity).|Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120591161	120591161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120591161C>T	uc001txo.2	-	33	3931	c.3918G>A	c.(3916-3918)GCG>GCA	p.A1306A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120637168	120637168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120637168T>C	uc001txp.2	-	3	412	c.175A>G	c.(175-177)ACC>GCC	p.T59A	RPLP0_uc001txq.2_Missense_Mutation_p.T59A|RPLP0_uc001txr.2_Missense_Mutation_p.T59A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	59					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120783402	120783402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120783402A>G	uc001tye.1	-	14	1145	c.1081T>C	c.(1081-1083)TAC>CAC	p.Y361H		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
GATC	283459	broad.mit.edu	37	12	120884368	120884368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120884368A>G	uc010szi.1	+						TRIAP1_uc001tyg.2_5'Flank	NM_176818	NP_789788			glutamyl-tRNA(Gln) amidotransferase, subunit C						regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SFRS9	8683	broad.mit.edu	37	12	120907233	120907233	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120907233C>A	uc001tyi.2	-	1	326	c.180G>T	c.(178-180)GAG>GAT	p.E60D	SFRS9_uc009zwy.2_Missense_Mutation_p.E60D|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	60	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SPPL3	121665	broad.mit.edu	37	12	121206174	121206174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121660770	121660770	+	Missense_Mutation	SNP	G	A	A	rs145814749	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121660770G>A	uc001tzr.2	+	5	752	c.448G>A	c.(448-450)GTA>ATA	p.V150I	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.V166I|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.V49I	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	150	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	122016814	122016814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122016814T>C	uc001uat.2	-	2	268	c.164A>G	c.(163-165)GAC>GGC	p.D55G	KDM2B_uc001uas.2_Missense_Mutation_p.D24G|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D55G	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	55					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
TMEM120B	144404	broad.mit.edu	37	12	122213555	122213555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122213555G>A	uc001ubc.3	+	12	1091	c.947G>A	c.(946-948)GGC>GAC	p.G316D	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	316	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)												OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHOF	54509	broad.mit.edu	37	12	122217484	122217484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122217484G>A	uc001ubb.2	-	5	611	c.556C>T	c.(556-558)CGG>TGG	p.R186W	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	186					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122625562	122625562	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122625562T>C	uc001ubq.2	+	16	2570	c.2570T>C	c.(2569-2571)CTG>CCG	p.L857P	MLXIP_uc001ubt.2_Missense_Mutation_p.L464P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	857	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)														---	---	---	---
IL31	386653	broad.mit.edu	37	12	122657248	122657248	+	Missense_Mutation	SNP	G	A	A	rs138591343	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122657248G>A	uc001ubv.2	-	3	233	c.206C>T	c.(205-207)ACG>ATG	p.T69M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	69						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720408	122720408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122720408C>T	uc001ucd.2	-	11	1478	c.1365G>A	c.(1363-1365)CCG>CCA	p.P455P	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)														---	---	---	---
GPR81	27198	broad.mit.edu	37	12	123214131	123214131	+	Silent	SNP	G	A	A	rs146760413		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123214131G>A	uc001ucz.2	-	1	999	c.756C>T	c.(754-756)TGC>TGT	p.C252C	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	252	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123265820	123265820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123265820G>T	uc001udc.2	+	3	484	c.339G>T	c.(337-339)CAG>CAT	p.Q113H	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.Q113H|CCDC62_uc001ude.2_Missense_Mutation_p.A12S	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	113	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123285971	123285971	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123285971A>G	uc001udc.2	+	9	1423	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T426T|CCDC62_uc001ude.2_Silent_p.T187T	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	426						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123344632	123344632	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123344632G>A	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)												OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687931	123687931	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123687931T>G	uc001uel.2	-						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619			M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---
RILPL2	196383	broad.mit.edu	37	12	123915133	123915133	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123915133A>G	uc001uey.1	-	2	710	c.413T>C	c.(412-414)CTA>CCA	p.L138P		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	138	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124069277	124069277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124069277T>C	uc001ufg.2	+	1	202	c.94T>C	c.(94-96)TGC>CGC	p.C32R		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	32	Lumenal (Potential).|GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124071286	124071286	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124071286G>A	uc001ufg.2	+							NM_006815	NP_006806			coated vesicle membrane protein precursor						protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124137116	124137116	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124137116C>T	uc001ufo.1	+						GTF2H3_uc010tau.1_Intron	NM_001516	NP_001507			general transcription factor IIH, polypeptide 3,						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)									NER					---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124228803	124228803	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124228803C>T	uc001ufr.2	+	11	1493	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	415	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124235651	124235651	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124235651T>G	uc001ufr.2	+							NM_012463	NP_036595			ATPase, H+ transporting, lysosomal V0 subunit						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124268706	124268706	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124268706C>T	uc001uft.3	+	8	1054	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	343	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124330561	124330561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124330561T>C	uc001uft.3	+	31	5345	c.5320T>C	c.(5320-5322)TTT>CTT	p.F1774L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124393820	124393820	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124393820G>A	uc001uft.3	+	57	9499	c.9474G>A	c.(9472-9474)AAG>AAA	p.K3158K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3158	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124832728	124832728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124832728C>T	uc010tba.1	-	29	4118	c.4001G>A	c.(4000-4002)AGC>AAC	p.S1334N	NCOR2_uc010tay.1_Missense_Mutation_p.S1333N|NCOR2_uc010taz.1_Missense_Mutation_p.S1317N|NCOR2_uc010tbb.1_Missense_Mutation_p.S1326N|NCOR2_uc010tbc.1_Missense_Mutation_p.S1316N|NCOR2_uc001ugj.1_Missense_Mutation_p.S1334N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1334					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)												OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124835152	124835152	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124835152G>T	uc010tba.1	-	28	3966	c.3849C>A	c.(3847-3849)GGC>GGA	p.G1283G	NCOR2_uc010tay.1_Silent_p.G1282G|NCOR2_uc010taz.1_Silent_p.G1266G|NCOR2_uc010tbb.1_Silent_p.G1275G|NCOR2_uc010tbc.1_Silent_p.G1265G|NCOR2_uc001ugj.1_Silent_p.G1283G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1283					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124882718	124882718	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124882718T>G	uc010tba.1	-	16	1940	c.1823A>C	c.(1822-1824)GAG>GCG	p.E608A	NCOR2_uc010tay.1_Missense_Mutation_p.E608A|NCOR2_uc010taz.1_Missense_Mutation_p.E608A|NCOR2_uc010tbb.1_Missense_Mutation_p.E608A|NCOR2_uc010tbc.1_Missense_Mutation_p.E607A|NCOR2_uc001ugj.1_Missense_Mutation_p.E608A	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	608					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124885063	124885063	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124885063C>A	uc010tba.1	-	15	1914	c.1797G>T	c.(1795-1797)CAG>CAT	p.Q599H	NCOR2_uc010tay.1_Missense_Mutation_p.Q599H|NCOR2_uc010taz.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbb.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbc.1_Missense_Mutation_p.Q598H|NCOR2_uc001ugj.1_Missense_Mutation_p.Q599H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125294824	125294824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125294824C>A	uc001ugo.3	-	6	991	c.738G>T	c.(736-738)TGG>TGT	p.W246C	SCARB1_uc001ugn.3_Missense_Mutation_p.W246C|SCARB1_uc001ugm.3_Missense_Mutation_p.W246C|SCARB1_uc010tbd.1_Missense_Mutation_p.W246C|SCARB1_uc010tbe.1_Missense_Mutation_p.W205C|SCARB1_uc001ugp.3_Missense_Mutation_p.W246C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	246	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)													---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125444895	125444895	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125444895T>C	uc001ugy.2	-	16	2219	c.2120A>G	c.(2119-2121)GAC>GGC	p.D707G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
AACS	65985	broad.mit.edu	37	12	125591759	125591759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125591759T>C	uc001uhc.2	+	8	1066	c.860T>C	c.(859-861)ATC>ACC	p.I287T	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I287T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	287					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)														---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126004077	126004077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:126004077T>C	uc001uhe.1	+	4	1192	c.1184T>C	c.(1183-1185)GTG>GCG	p.V395A		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	395	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)														---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130185180	130185180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130185180G>A	uc009zyl.1	-	2	471	c.143C>T	c.(142-144)CCC>CTC	p.P48L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	48	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648123	130648123	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130648123G>A	uc001uii.2	+	1	1092	c.636G>A	c.(634-636)ACG>ACA	p.T212T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	212	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130897259	130897259	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130897259T>A	uc001uil.2	-	15	2890	c.2726A>T	c.(2725-2727)AAC>ATC	p.N909I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	909	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130898739	130898739	+	Silent	SNP	C	T	T	rs143479429	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130898739C>T	uc001uil.2	-	14	2747	c.2583G>A	c.(2581-2583)CCG>CCA	p.P861P		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	861	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131569156	131569156	+	Missense_Mutation	SNP	G	A	A	rs145630930	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:131569156G>A	uc001uit.3	+	15	2178	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	GPR133_uc010tbm.1_Missense_Mutation_p.R572H|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R59H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	540	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132241057	132241057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132241057C>T	uc001uja.1	+	11	1728	c.1588C>T	c.(1588-1590)CCC>TCC	p.P530S	SFRS8_uc010tbn.1_Missense_Mutation_p.P530S|SFRS8_uc001ujb.1_Missense_Mutation_p.P323S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	530					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132249139	132249139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132249139C>T	uc001uja.1	+	12	1999	c.1859C>T	c.(1858-1860)GCT>GTT	p.A620V	SFRS8_uc010tbn.1_Missense_Mutation_p.A620V|SFRS8_uc001ujb.1_Missense_Mutation_p.A413V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	620					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132281751	132281751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132281751C>T	uc001uja.1	+	16	2703	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	SFRS8_uc010tbn.1_Missense_Mutation_p.R907W	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	855	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132334582	132334582	+	Silent	SNP	C	T	T	rs149055160		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132334582C>T	uc001ujc.1	+	9	1539	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	MMP17_uc001ujd.1_Silent_p.D396D	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	480	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132508396	132508396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132508396C>T	uc001ujn.2	+	23	4800	c.4765C>T	c.(4765-4767)CCG>TCG	p.P1589S	EP400_uc001ujl.2_Missense_Mutation_p.P1588S|EP400_uc001ujm.2_Missense_Mutation_p.P1508S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132534928	132534928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132534928C>T	uc001ujn.2	+	39	7296	c.7261C>T	c.(7261-7263)CAC>TAC	p.H2421Y	EP400_uc001ujl.2_Missense_Mutation_p.H2420Y|EP400_uc001ujm.2_Missense_Mutation_p.H2340Y	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2457					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133197925	133197925	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133197925T>C	uc001ukj.1	+	9	990	c.990T>C	c.(988-990)CAT>CAC	p.H330H	P2RX2_uc001uki.1_Silent_p.H330H|P2RX2_uc001ukk.1_Silent_p.H330H|P2RX2_uc001ukl.1_Silent_p.H306H|P2RX2_uc001ukm.1_Silent_p.H258H|P2RX2_uc001ukn.1_Silent_p.H238H|P2RX2_uc009zyt.1_Silent_p.H330H|P2RX2_uc001uko.1_Silent_p.H296H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	330	Pore-forming motif (Potential).|Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)														---	---	---	---
POLE	5426	broad.mit.edu	37	12	133214612	133214612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133214612T>C	uc001uks.1	-	41	5710	c.5666A>G	c.(5665-5667)TAC>TGC	p.Y1889C	POLE_uc001ukq.1_Missense_Mutation_p.Y99C|POLE_uc001ukr.1_Missense_Mutation_p.Y693C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1889					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133234500	133234500	+	Missense_Mutation	SNP	C	T	T	rs114315196	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133234500C>T	uc001uks.1	-	27	3376	c.3332G>A	c.(3331-3333)CGG>CAG	p.R1111Q	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1111					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245074	133245074	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133245074T>G	uc001uks.1	-	19	2085	c.2041A>C	c.(2041-2043)AGC>CGC	p.S681R	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.S654R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	681					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133249803	133249803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133249803C>T	uc001uks.1	-	14	1464	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V447I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	474					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133291482	133291482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133291482A>G	uc009zyv.2	+	2	257	c.230A>G	c.(229-231)AAC>AGC	p.N77S	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.N77S	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	77	Interaction with KEAP1.					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133306795	133306795	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133306795T>C	uc001ukx.2	-	11	2020	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	ANKLE2_uc009zyw.1_Missense_Mutation_p.I6M	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133324563	133324563	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133324563T>C	uc001ukx.2	-	5	1152	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	ANKLE2_uc001uky.3_Missense_Mutation_p.N300S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	362						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133350896	133350896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133350896G>A	uc001ukz.1	-	23	4713	c.4154C>T	c.(4153-4155)CCG>CTG	p.P1385L		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1385	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363022	133363022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133363022C>T	uc001ukz.1	-	15	3585	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	GOLGA3_uc001ula.1_Missense_Mutation_p.R1009H|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1009H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1009	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433166	133433166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433166T>C	uc001ulf.2	-	10	1237	c.1153A>G	c.(1153-1155)ATC>GTC	p.I385V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.I373V|CHFR_uc010tbs.1_Missense_Mutation_p.I385V|CHFR_uc001uld.2_Missense_Mutation_p.I344V|CHFR_uc010tbt.1_Missense_Mutation_p.I293V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	385					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433184	133433184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433184T>C	uc001ulf.2	-	10	1219	c.1135A>G	c.(1135-1137)ATG>GTG	p.M379V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.M367V|CHFR_uc010tbs.1_Missense_Mutation_p.M379V|CHFR_uc001uld.2_Missense_Mutation_p.M338V|CHFR_uc010tbt.1_Missense_Mutation_p.M287V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	379					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20039713	20039713	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20039713A>G	uc001umd.2	-						TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_Intron	NM_199254	NP_954863			TPTE and PTEN homologous inositol lipid							endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20412952	20412952	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20412952C>T	uc010tcn.1	-	5	1025	c.760G>A	c.(760-762)GGA>AGA	p.G254R	ZMYM5_uc001umm.1_Missense_Mutation_p.G78R|ZMYM5_uc001umn.2_Missense_Mutation_p.G254R|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	254						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)														---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20579332	20579332	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20579332G>T	uc001umr.2	+	6	1550	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	ZMYM2_uc001umq.2_Nonsense_Mutation_p.G331*|ZMYM2_uc001ums.2_Nonsense_Mutation_p.G418*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.G418*|ZMYM2_uc010tco.1_RNA	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	418	MYM-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373315	21373315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373315A>G	uc001unq.3	-	16	2347	c.2311T>C	c.(2311-2313)TAT>CAT	p.Y771H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	771					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373449	21373449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373449C>T	uc001unq.3	-	16	2213	c.2177G>A	c.(2176-2178)TGG>TAG	p.W726*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	726					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562755	21562755	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562755C>T	uc009zzs.2	-	4	1529	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	LATS2_uc001unr.3_Silent_p.A388A	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	388					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562993	21562993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562993G>A	uc009zzs.2	-	4	1291	c.926C>T	c.(925-927)GCC>GTC	p.A309V	LATS2_uc001unr.3_Missense_Mutation_p.A309V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	309					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21736007	21736007	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21736007C>T	uc001unt.2	-	5	845	c.751G>A	c.(751-753)GCC>ACC	p.A251T	SKA3_uc001unv.2_Missense_Mutation_p.A169T|SKA3_uc001unu.2_Missense_Mutation_p.A251T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	251					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0																		---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22275428	22275428	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22275428C>A	uc001uog.2	+	3	1318	c.481C>A	c.(481-483)CGA>AGA	p.R161R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23904580	23904580	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23904580G>T	uc001uon.2	-	10	14024	c.13435C>A	c.(13435-13437)CTT>ATT	p.L4479I	SACS_uc001uoo.2_Missense_Mutation_p.L4332I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4479	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24233272	24233272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24233272G>A	uc001uov.1	+	6	593	c.529G>A	c.(529-531)GCT>ACT	p.A177T	TNFRSF19_uc001uot.2_Missense_Mutation_p.A177T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A45T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A177T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	177	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)														---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24453405	24453405	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24453405A>G	uc001uox.3	-	4	639	c.539_splice	c.e4+1	p.R180_splice		NM_005932	NP_005923			mitochondrial intermediate peptidase precursor						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25072362	25072362	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25072362T>C	uc001upl.2	-	6	589	c.483A>G	c.(481-483)GGA>GGG	p.G161G	PARP4_uc010tdc.1_Silent_p.G161G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	161					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25276190	25276190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25276190G>A	uc001upp.2	+	14	2186	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP12A_uc010aaa.2_Missense_Mutation_p.V673M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	667	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)													---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25451230	25451230	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25451230A>G	uc001upr.2	+	34	4720	c.4679A>G	c.(4678-4680)GAG>GGG	p.E1560G	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1556G|RNF17_uc001ups.2_Missense_Mutation_p.E1499G|RNF17_uc010aac.2_Missense_Mutation_p.E752G|RNF17_uc010aad.2_Missense_Mutation_p.E570G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1560					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)														---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25457393	25457393	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25457393A>T	uc001upt.3	-	17	4192	c.3939T>A	c.(3937-3939)CAT>CAA	p.H1313Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1313					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)														---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672238	25672238	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25672238A>T	uc001upy.2	+	1						NM_030979	NP_112241			poly(A) binding protein, cytoplasmic 3						mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
FAM123A	219287	broad.mit.edu	37	13	25745239	25745239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25745239C>T	uc001uqb.2	-	1	619	c.519G>A	c.(517-519)TCG>TCA	p.S173S	FAM123A_uc001uqa.2_Silent_p.S173S|FAM123A_uc001uqc.2_Silent_p.S173S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	173										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25841985	25841985	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25841985T>C	uc001uqf.3	-	3	555	c.236A>G	c.(235-237)CAT>CGT	p.H79R	MTMR6_uc001uqe.1_Missense_Mutation_p.H79R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	79						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)														---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26163837	26163837	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26163837T>C	uc001uqk.2	+	24	2353	c.2211T>C	c.(2209-2211)GAT>GAC	p.D737D	ATP8A2_uc010tdi.1_Silent_p.D697D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D247D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	697	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)														---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26975768	26975768	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26975768C>A	uc001uqr.1	+						CDK8_uc001uqs.1_Intron|CDK8_uc001uqt.1_Intron	NM_001260	NP_001251			cyclin-dependent kinase 8						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)														---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333537	27333537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27333537T>A	uc010aal.2	-	2	650	c.428A>T	c.(427-429)TAC>TTC	p.Y143F	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	143	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)														---	---	---	---
USP12	219333	broad.mit.edu	37	13	27649324	27649324	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27649324T>A	uc001uqy.2	-							NM_182488	NP_872294			ubiquitin thiolesterase 12						protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)														---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28537373	28537373	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28537373G>T	uc001urv.2	-	3	995	c.821C>A	c.(820-822)CCT>CAT	p.P274H		NM_001265	NP_001256	Q99626	CDX2_HUMAN	caudal type homeobox 2	274					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)				T	ETV6	AML								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608021	28608021	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28608021T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28624226	28624226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28624226T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28866538	28866538	+	Missense_Mutation	SNP	A	G	G	rs77051153		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28866538A>G	uc001urz.2	+	18	2113	c.2105A>G	c.(2104-2106)GAA>GGA	p.E702G	PAN3_uc001ury.2_Missense_Mutation_p.E536G|PAN3_uc001urx.2_Missense_Mutation_p.E648G	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	848	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28931709	28931709	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28931709C>T	uc001usb.3	-	15	2515	c.2230G>A	c.(2230-2232)GCA>ACA	p.A744T		NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	744	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28959109	28959109	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28959109A>C	uc001usb.3	-	14	2314	c.2029T>G	c.(2029-2031)TCC>GCC	p.S677A	FLT1_uc010aar.1_Missense_Mutation_p.S677A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	677	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29855913	29855913	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29855913C>G	uc001usl.3	+	4	2805	c.2747C>G	c.(2746-2748)GCC>GGC	p.A916G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---
ALOX5AP	241	broad.mit.edu	37	13	31338107	31338107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31338107G>A	uc001utf.1	+	5	424	c.350G>A	c.(349-351)CGC>CAC	p.R117H	ALOX5AP_uc010tdr.1_Missense_Mutation_p.R174H	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	117	Inhibitor binding.|Helical.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding				0		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)														---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31821211	31821211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31821211T>C	uc010aaz.2	+	5	432	c.322T>C	c.(322-324)TGG>CGG	p.W108R		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	108	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)														---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32332460	32332460	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32332460A>G	uc001utt.2	+	2	231	c.160A>G	c.(160-162)AAT>GAT	p.N54D	RXFP2_uc010aba.2_Missense_Mutation_p.N37D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	54	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32808832	32808832	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32808832A>G	uc001utx.2	+	42	6145	c.5649A>G	c.(5647-5649)GCA>GCG	p.A1883A	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32839709	32839709	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32839709G>T	uc001utx.2	+	54	8398	c.7902G>T	c.(7900-7902)GGG>GGT	p.G2634G	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.G189G|FRY_uc001utz.2_Silent_p.G159G|FRY_uc010tdx.1_Silent_p.G4G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32841346	32841346	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32841346G>A	uc001utx.2	+	55	8482	c.7986G>A	c.(7984-7986)TCG>TCA	p.S2662S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.S217S|FRY_uc001utz.2_Silent_p.S187S|FRY_uc010tdx.1_Silent_p.S32S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32868689	32868689	+	Missense_Mutation	SNP	G	T	T	rs147607259	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32868689G>T	uc001utx.2	+	60	9261	c.8765G>T	c.(8764-8766)CGG>CTG	p.R2922L	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.R453L|FRY_uc010tdx.1_Missense_Mutation_p.R292L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906609	32906609	+	Missense_Mutation	SNP	A	T	T	rs80359778		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32906609A>T	uc001uub.1	+	10	1221	c.994A>T	c.(994-996)ATT>TTT	p.I332F	BRCA2_uc001uua.1_Missense_Mutation_p.I209F	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	332					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32945087	32945087	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32945087T>A	uc001uub.1	+							NM_000059	NP_000050			breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
KL	9365	broad.mit.edu	37	13	33635256	33635256	+	Silent	SNP	C	T	T	rs138723796	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33635256C>T	uc001uus.2	+	4	2048	c.2040C>T	c.(2038-2040)CAC>CAT	p.H680H	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	680	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33692261	33692261	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33692261T>A	uc001uuw.2	-	8	2348	c.2222A>T	c.(2221-2223)GAC>GTC	p.D741V	STARD13_uc001uuu.2_Missense_Mutation_p.D733V|STARD13_uc001uuv.2_Missense_Mutation_p.D623V|STARD13_uc001uux.2_Missense_Mutation_p.D706V|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	741	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33703177	33703177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33703177G>A	uc001uuw.2	-	5	1763	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	STARD13_uc001uuu.2_Missense_Mutation_p.T538M|STARD13_uc001uuv.2_Missense_Mutation_p.T428M|STARD13_uc001uux.2_Missense_Mutation_p.T511M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T531M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36242655	36242655	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36242655A>C	uc001uvb.2	+	57	8955	c.8749A>C	c.(8749-8751)AGG>CGG	p.R2917R	NBEA_uc010abi.2_Silent_p.R1575R|NBEA_uc010tef.1_Silent_p.R710R|NBEA_uc001uvd.2_Silent_p.R495R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2917	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36348794	36348794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36348794G>A	uc001uvf.2	-	18	2408	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DCLK1_uc001uve.3_Silent_p.D418D|DCLK1_uc010teh.1_Missense_Mutation_p.R394C|DCLK1_uc010abk.2_Silent_p.D245D	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	Error:Variant_position_missing_in_O15075_after_alignment					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36699987	36699987	+	Silent	SNP	C	T	T	rs141898843		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36699987C>T	uc001uvf.2	-	2	521	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	96	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909169	36909169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36909169C>T	uc001uvn.2	-	3	1069	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SPG20_uc010ten.1_Missense_Mutation_p.G267R|SPG20_uc001uvm.2_Missense_Mutation_p.G267R|SPG20_uc001uvo.2_Missense_Mutation_p.G267R|SPG20_uc001uvq.2_Missense_Mutation_p.G267R|SPG20_uc001uvp.2_Missense_Mutation_p.G267R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	267					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---
FAM48A	55578	broad.mit.edu	37	13	37614783	37614783	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37614783T>C	uc001uwg.2	-	8	691	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	FAM48A_uc010abt.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y148C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y148C|FAM48A_uc010tes.1_Missense_Mutation_p.Y136C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y148C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	148					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)														---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38153250	38153250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38153250A>G	uc001uwo.3	-	14	1918	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D	POSTN_uc010tet.1_Silent_p.D128D|POSTN_uc001uwp.3_Silent_p.D600D|POSTN_uc001uwr.2_Silent_p.D600D|POSTN_uc001uwq.2_Silent_p.D600D|POSTN_uc010teu.1_Silent_p.D600D|POSTN_uc010tev.1_Silent_p.D600D|POSTN_uc010tew.1_Silent_p.D600D	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	600	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39263259	39263259	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39263259A>T	uc001uwv.2	+	1	2087	c.1778A>T	c.(1777-1779)GAT>GTT	p.D593V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	593	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39425256	39425256	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39425256T>G	uc001uwv.2	+						FREM2_uc001uww.2_Intron	NM_207361	NP_997244			FRAS1-related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39432107	39432107	+	Silent	SNP	C	T	T	rs142939064		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39432107C>T	uc001uwv.2	+	13	7461	c.7152C>T	c.(7150-7152)GAC>GAT	p.D2384D	FREM2_uc001uww.2_Silent_p.D470D	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2384	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39450201	39450201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39450201G>A	uc001uwv.2	+	19	8633	c.8324G>A	c.(8323-8325)GGC>GAC	p.G2775D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2775	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587269	39587269	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587269A>T	uc001uwy.2	-	11	2993	c.2120T>A	c.(2119-2121)TTT>TAT	p.F707Y	C13orf23_uc001uwz.2_Missense_Mutation_p.F685Y	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	707	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587655	39587655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587655T>C	uc001uwy.2	-	11	2607	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	C13orf23_uc001uwz.2_Silent_p.S556S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	578	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40251660	40251660	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40251660C>T	uc001uxh.2	+	5	584	c.484C>T	c.(484-486)CTG>TTG	p.L162L	COG6_uc001uxi.2_Silent_p.L110L|COG6_uc010acb.2_Silent_p.L162L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	162					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40261756	40261756	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40261756A>G	uc001uxh.2	+	9	1005	c.905A>G	c.(904-906)CAT>CGT	p.H302R	COG6_uc001uxi.2_Missense_Mutation_p.H250R|COG6_uc010acb.2_Missense_Mutation_p.H302R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	302					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41706252	41706252	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41706252A>T	uc001uxu.1	-	1	685	c.396T>A	c.(394-396)GGT>GGA	p.G132G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.G66G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	132	BTB.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)														---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41902913	41902913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41902913A>G	uc001uyf.2	+	7	1069	c.745A>G	c.(745-747)AAC>GAC	p.N249D	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.N249D|NAA16_uc001uyd.3_Missense_Mutation_p.N249D	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	249	TPR 4.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1																		---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42295544	42295544	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42295544A>G	uc001uyj.2	-	25	2996	c.2926T>C	c.(2926-2928)TCT>CCT	p.S976P	KIAA0564_uc001uyk.2_Missense_Mutation_p.S976P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	976						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42303761	42303761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42303761G>T	uc001uyj.2	-	23	2625	c.2555C>A	c.(2554-2556)GCT>GAT	p.A852D	KIAA0564_uc001uyk.2_Missense_Mutation_p.A852D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	852						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42385394A>G	uc001uyj.2	-	17	2100	c.2030T>C	c.(2029-2031)CTT>CCT	p.L677P	KIAA0564_uc001uyk.2_Missense_Mutation_p.L677P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	677						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42407516	42407516	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42407516A>C	uc001uyj.2	-	13	1647	c.1577T>G	c.(1576-1578)GTA>GGA	p.V526G	KIAA0564_uc001uyk.2_Missense_Mutation_p.V526G	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	526						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42457538	42457538	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42457538C>T	uc001uyj.2	-	9	1135	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	KIAA0564_uc001uyk.2_Silent_p.V355V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	355						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42729868	42729868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42729868A>G	uc001uyl.1	+	5	576	c.555A>G	c.(553-555)CGA>CGG	p.R185R	DGKH_uc010tfh.1_Silent_p.R185R|DGKH_uc001uym.1_Silent_p.R185R|DGKH_uc010tfi.1_Missense_Mutation_p.D18G|DGKH_uc010tfj.1_Silent_p.R40R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.R40R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	185	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42795459	42795459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42795459T>C	uc001uyl.1	+	29	3523	c.3502T>C	c.(3502-3504)TAC>CAC	p.Y1168H	DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyp.2_Intron	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1168	SAM.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42872729	42872729	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42872729A>T	uc001uys.1	+	7	587	c.412A>T	c.(412-414)ATT>TTT	p.I138F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	138					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42893313	42893313	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42893313C>A	uc001uys.1	+	13	5830	c.5655C>A	c.(5653-5655)TCC>TCA	p.S1885S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1885					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
C13orf31	144811	broad.mit.edu	37	13	44458051	44458051	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:44458051G>T	uc010acg.2	+	4	1371	c.886G>T	c.(886-888)GCA>TCA	p.A296S	C13orf31_uc001uzf.3_Missense_Mutation_p.A296S	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	296											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)														---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45553376	45553376	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45553376A>G	uc001uzp.2	-	5	725	c.683T>C	c.(682-684)ATC>ACC	p.I228T		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	228					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)														---	---	---	---
KCTD4	386618	broad.mit.edu	37	13	45768438	45768438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45768438C>T	uc001uzx.3	-	2	669	c.265G>A	c.(265-267)GTC>ATC	p.V89I	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	89	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)														---	---	---	---
GTF2F2	2963	broad.mit.edu	37	13	45841416	45841416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45841416G>A	uc001uzw.2	+	7	695	c.535G>A	c.(535-537)GAT>AAT	p.D179N	GTF2F2_uc001uzv.2_Missense_Mutation_p.D179N	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	179					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)														---	---	---	---
COG3	83548	broad.mit.edu	37	13	46093104	46093104	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46093104G>A	uc001vak.2	+	19	2130	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	COG3_uc010tfv.1_Missense_Mutation_p.E514K|COG3_uc010aci.2_Missense_Mutation_p.E453K	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	677					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287717	46287717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287717A>G	uc001van.1	+	3	637	c.557A>G	c.(556-558)AAC>AGC	p.N186S	SPERT_uc001vao.2_Missense_Mutation_p.N150S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	186	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287807	46287807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287807C>T	uc001van.1	+	3	727	c.647C>T	c.(646-648)TCG>TTG	p.S216L	SPERT_uc001vao.2_Missense_Mutation_p.S180L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	216						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357728	46357728	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46357728G>T	uc001vap.2	-	2	682	c.600C>A	c.(598-600)ACC>ACA	p.T200T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	200					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549903	46549903	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46549903C>A	uc010tfw.1	-	11	1989	c.1983G>T	c.(1981-1983)GAG>GAT	p.E661D	ZC3H13_uc001vas.1_Missense_Mutation_p.E661D|ZC3H13_uc001vat.1_Missense_Mutation_p.E661D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	661	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559477	46559477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46559477G>A	uc010tfw.1	-	9	1681	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R559*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R559*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	559	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46638817	46638817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46638817G>A	uc001vaw.2	-	8	829	c.762C>T	c.(760-762)GAC>GAT	p.D254D	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.D217D	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	254					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46661956	46661956	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46661956C>T	uc001vaw.2	-	2	142	c.75_splice	c.e2-1	p.S25_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.S25_splice	NM_001872	NP_001863			plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46942256	46942256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46942256C>T	uc010acl.2	-	5	1352	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	C13orf18_uc001vbf.3_Silent_p.Q182Q|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Silent_p.Q92Q|C13orf18_uc010acm.2_Silent_p.Q114Q|C13orf18_uc010acn.2_Silent_p.Q34Q|C13orf18_uc001vbe.3_Silent_p.Q249Q|C13orf18_uc001vbh.3_Silent_p.Q249Q|C13orf18_uc001vbi.3_Silent_p.Q92Q|C13orf18_uc010aco.1_Silent_p.Q249Q	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	249											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
ESD	2098	broad.mit.edu	37	13	47351597	47351597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47351597C>T	uc001vbn.2	-	9	945	c.762G>A	c.(760-762)TTG>TTA	p.L254L	ESD_uc001vbo.2_Silent_p.L254L|ESD_uc001vbp.1_Silent_p.L112L	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	254						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47355755	47355755	+	Intron	SNP	A	G	G	rs35178907		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47355755A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron|ESD_uc001vbp.1_5'Flank	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47361145	47361145	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47361145A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409003	47409003	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47409003T>G	uc001vbq.2	-	3	1519	c.1385A>C	c.(1384-1386)GAC>GCC	p.D462A	HTR2A_uc001vbr.2_Missense_Mutation_p.D362A|HTR2A_uc010acr.2_Missense_Mutation_p.D462A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	462	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
RB1	5925	broad.mit.edu	37	13	48921969	48921969	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48921969A>G	uc001vcb.2	+	5	675	c.509A>G	c.(508-510)GAA>GGA	p.E170G	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	170					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
LPAR6	10161	broad.mit.edu	37	13	48986487	48986487	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48986487T>C	uc010acu.2	-	1	1167	c.73A>G	c.(73-75)AGC>GGC	p.S25G	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.S25G|LPAR6_uc001vcf.2_Missense_Mutation_p.S25G	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	25	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4																		---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49781431	49781431	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49781431G>A	uc001vcm.2	+	26	3802	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.R1166Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.R1110Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1166						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)														---	---	---	---
CDADC1	81602	broad.mit.edu	37	13	49833617	49833617	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49833617T>C	uc001vcu.2	+	4	464	c.388T>C	c.(388-390)TCC>CCC	p.S130P	CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	130							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)														---	---	---	---
CAB39L	81617	broad.mit.edu	37	13	49885125	49885125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49885125A>G	uc001vcw.2	-	9	1337	c.839T>C	c.(838-840)TTT>TCT	p.F280S	CAB39L_uc001vcx.2_Missense_Mutation_p.F280S|CAB39L_uc010adf.2_Missense_Mutation_p.F277S	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	280					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50050783	50050783	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50050783T>A	uc001vcz.2	+	7	1419	c.513T>A	c.(511-513)TGT>TGA	p.C171*	SETDB2_uc010adg.2_Nonsense_Mutation_p.C147*|SETDB2_uc001vcy.3_Nonsense_Mutation_p.C159*|SETDB2_uc010adh.2_Nonsense_Mutation_p.C159*|SETDB2_uc001vda.2_Nonsense_Mutation_p.C159*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	171	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50055082	50055082	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50055082G>A	uc001vcz.2	+	9	1929	c.1023_splice	c.e9-1	p.G341_splice	SETDB2_uc010adg.2_Splice_Site_p.G317_splice|SETDB2_uc001vcy.3_Splice_Site_p.G329_splice|SETDB2_uc010adh.2_Splice_Site_p.G329_splice|SETDB2_uc001vda.2_Splice_Site_p.G329_splice	NM_031915	NP_114121			SET domain, bifurcated 2 isoform a						cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50279883	50279883	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50279883A>G	uc001vdj.2	-	15	1661	c.1246T>C	c.(1246-1248)TTC>CTC	p.F416L		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	416	ARM 9.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)														---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52515217	52515217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52515217C>T	uc001vfw.2	-	16	3713	c.3556G>A	c.(3556-3558)GGT>AGT	p.G1186S	ATP7B_uc010adv.2_Missense_Mutation_p.G756S|ATP7B_uc001vfx.2_Missense_Mutation_p.G979S|ATP7B_uc001vfy.2_Missense_Mutation_p.G1075S|ATP7B_uc010tgt.1_Missense_Mutation_p.G1121S|ATP7B_uc010tgu.1_Missense_Mutation_p.G1138S|ATP7B_uc010tgv.1_Missense_Mutation_p.G1108S|ATP7B_uc001vfv.2_Missense_Mutation_p.G458S|ATP7B_uc010tgs.1_Missense_Mutation_p.G397S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1186	Cytoplasmic (Potential).		G -> S (in WD; possibly not disease- causing).|G -> C (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52523920	52523920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52523920G>A	uc001vfw.2	-	12	2900	c.2743C>T	c.(2743-2745)CAG>TAG	p.Q915*	ATP7B_uc010adv.2_Nonsense_Mutation_p.Q485*|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Nonsense_Mutation_p.Q804*|ATP7B_uc010tgt.1_Nonsense_Mutation_p.Q915*|ATP7B_uc010tgu.1_Nonsense_Mutation_p.Q867*|ATP7B_uc010tgv.1_Nonsense_Mutation_p.Q837*|ATP7B_uc001vfv.2_Nonsense_Mutation_p.Q187*|ATP7B_uc010tgs.1_Nonsense_Mutation_p.Q187*	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	915	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52539088	52539088	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52539088C>T	uc001vfw.2	-	5	1946	c.1789G>A	c.(1789-1791)GTT>ATT	p.V597I	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597I|ATP7B_uc001vfy.2_Missense_Mutation_p.V486I|ATP7B_uc010tgt.1_Missense_Mutation_p.V597I|ATP7B_uc010tgu.1_Missense_Mutation_p.V597I|ATP7B_uc010tgv.1_Missense_Mutation_p.V597I|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52663438	52663438	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52663438T>C	uc001vge.2	-	14	1360	c.1220A>G	c.(1219-1221)TAC>TGC	p.Y407C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	407							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	A	A	rs144799411	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952229G>A	uc001vgo.2	-	5	2421	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	THSD1_uc001vgp.2_Missense_Mutation_p.R573C|THSD1_uc010tgz.1_Missense_Mutation_p.R247C|THSD1_uc010aea.2_Missense_Mutation_p.R87C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	626	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952905	52952905	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952905T>C	uc001vgo.2	-	5	1745	c.1200A>G	c.(1198-1200)CCA>CCG	p.P400P	THSD1_uc001vgp.2_Silent_p.P347P|THSD1_uc010tgz.1_Silent_p.P21P|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	400	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53420245	53420245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53420245C>T	uc001vhi.2	-	1	2530	c.2327G>A	c.(2326-2328)CGC>CAC	p.R776H	PCDH8_uc001vhj.2_Missense_Mutation_p.R776H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208481	58208481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208481G>A	uc001vhq.1	+	1	2693	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	PCDH17_uc010aec.1_Missense_Mutation_p.A601T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	601	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208684	58208684	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208684C>T	uc001vhq.1	+	1	2896	c.2004C>T	c.(2002-2004)CAC>CAT	p.H668H	PCDH17_uc010aec.1_Silent_p.H668H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	668	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208869	58208869	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208869G>A	uc001vhq.1	+	1	3081	c.2189G>A	c.(2188-2190)TGC>TAC	p.C730Y	PCDH17_uc010aec.1_Missense_Mutation_p.C730Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60240957	60240957	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60240957C>A	uc001vht.2	-	28	3562	c.3343G>T	c.(3343-3345)GAA>TAA	p.E1115*	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1115					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60545158	60545158	+	Missense_Mutation	SNP	G	T	T	rs150023947	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60545158G>T	uc001vht.2	-	16	2006	c.1787C>A	c.(1786-1788)CCT>CAT	p.P596H	DIAPH3_uc001vhu.2_Missense_Mutation_p.P333H|DIAPH3_uc001vhv.2_Missense_Mutation_p.P174H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	596	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616864	60616864	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616864G>T	uc001vht.2	-	5	805	c.586C>A	c.(586-588)CTG>ATG	p.L196M	DIAPH3_uc001vhw.1_Missense_Mutation_p.L185M|DIAPH3_uc010aed.1_Missense_Mutation_p.L150M|DIAPH3_uc010aee.1_Missense_Mutation_p.L126M|uc001vhx.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	196	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986186	61986186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61986186A>G	uc001vid.3	-	2	2410	c.2046T>C	c.(2044-2046)AGT>AGC	p.S682S	PCDH20_uc010thj.1_Silent_p.S682S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	655	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72049923	72049923	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72049923T>C	uc010thn.1	-	10	2352	c.1929A>G	c.(1927-1929)GCA>GCG	p.A643A	DACH1_uc010tho.1_Silent_p.A495A|DACH1_uc010thp.1_Silent_p.A441A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	695	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72063126	72063126	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72063126T>C	uc010thn.1	-						DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937			dachshund homolog 1 isoform a						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72146996	72146996	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72146996G>T	uc010thn.1	-	5	1698	c.1275C>A	c.(1273-1275)TCC>TCA	p.S425S	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	477					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73349461	73349461	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73349461A>G	uc001vix.3	-	6	1249	c.875T>C	c.(874-876)GTG>GCG	p.V292A	DIS3_uc001viy.3_Missense_Mutation_p.V262A|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	292					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73350153	73350153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73350153A>G	uc001vix.3	-	5	1106	c.732T>C	c.(730-732)GGT>GGC	p.G244G	DIS3_uc001viy.3_Silent_p.G214G|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	244					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75861153	75861153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75861153A>G	uc001vjl.1	-	21	4019	c.3672T>C	c.(3670-3672)CAT>CAC	p.H1224H	TBC1D4_uc010tht.1_Silent_p.H434H|TBC1D4_uc010thu.1_Silent_p.H381H|TBC1D4_uc010aer.2_Silent_p.H1216H|TBC1D4_uc010aes.2_Silent_p.H1161H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1224						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76408473	76408473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76408473C>T	uc001vjv.2	+	14	3237	c.2477C>T	c.(2476-2478)GCT>GTT	p.A826V	LMO7_uc010thv.1_Missense_Mutation_p.A777V|LMO7_uc001vjt.1_Missense_Mutation_p.A725V|LMO7_uc010thw.1_Missense_Mutation_p.A676V|LMO7_uc001vjw.1_Missense_Mutation_p.A732V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1111	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)														---	---	---	---
KCTD12	115207	broad.mit.edu	37	13	77459345	77459345	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77459345G>C	uc010aeu.1	-	1	1196	c.939C>G	c.(937-939)ATC>ATG	p.I313M	KCTD12_uc001vka.1_Missense_Mutation_p.I313M	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	313						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)												OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77671955	77671955	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77671955T>A	uc001vkf.2	-	57	9311	c.9220A>T	c.(9220-9222)ATG>TTG	p.M3074L	MYCBP2_uc010aev.2_Missense_Mutation_p.M2478L|MYCBP2_uc001vkg.1_Missense_Mutation_p.M597L|MYCBP2_uc010aew.2_Missense_Mutation_p.M460L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77847693	77847693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77847693C>T	uc001vkf.2	-	6	836	c.745G>A	c.(745-747)GCT>ACT	p.A249T	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492418	78492418	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492418C>A	uc001vko.2	-	1	549	c.291G>T	c.(289-291)AAG>AAT	p.K97N	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K97N|EDNRB_uc010aez.1_Missense_Mutation_p.K97N|EDNRB_uc001vkp.1_Missense_Mutation_p.K180N|EDNRB_uc010afa.1_Missense_Mutation_p.K97N	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	97	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219069	79219069	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219069A>G	uc001vkw.1	-	2	195	c.136T>C	c.(136-138)TTG>CTG	p.L46L	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L46L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	46	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219087	79219087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219087T>A	uc001vkw.1	-	2	177	c.118A>T	c.(118-120)ATT>TTT	p.I40F	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.I40F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	40	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79939848	79939848	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79939848A>G	uc001vkz.2	-	9	1311	c.1297T>C	c.(1297-1299)TAT>CAT	p.Y433H	RBM26_uc001vky.2_Missense_Mutation_p.Y428H|RBM26_uc001vla.2_Missense_Mutation_p.Y428H|RBM26_uc001vkx.2_Missense_Mutation_p.Y140H	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	428					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)														---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328670	88328670	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88328670C>T	uc001vln.2	+	2	1246	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	SLITRK5_uc010tic.1_Missense_Mutation_p.R102C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	343	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92101185	92101185	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92101185A>G	uc010tif.1	+							NM_004466	NP_004457			glypican 5 precursor							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---
GPC6	10082	broad.mit.edu	37	13	93879729	93879729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:93879729C>T	uc001vlt.2	+	1	652	c.20C>T	c.(19-21)GCT>GTT	p.A7V	GPC6_uc010tig.1_Missense_Mutation_p.A7V	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	7						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)														OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95092303	95092303	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95092303G>A	uc001vlv.3	-	8	1836	c.1409C>T	c.(1408-1410)CCC>CTC	p.P470L	DCT_uc010afh.2_Missense_Mutation_p.P503L	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	470	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)														---	---	---	---
SOX21	11166	broad.mit.edu	37	13	95364135	95364135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95364135A>G	uc001vma.2	-	1	255	c.169T>C	c.(169-171)TTC>CTC	p.F57L	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	57	HMG box.				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)																	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293540	96293540	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96293540G>A	uc001vmk.2	-						DZIP1_uc001vml.2_Intron|DZIP1_uc001vmn.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97484962	97484962	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:97484962G>T	uc001vmw.2	+	2	950	c.926G>T	c.(925-927)CGC>CTC	p.R309L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	309	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)																	---	---	---	---
RAP2A	5911	broad.mit.edu	37	13	98116606	98116606	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98116606C>T	uc001vnd.2	+	2	712	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	154					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98660323	98660323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98660323A>G	uc001vnf.1	+	15	1792	c.1727A>G	c.(1726-1728)GAT>GGT	p.D576G	IPO5_uc001vne.2_Missense_Mutation_p.D594G|IPO5_uc010tik.1_Missense_Mutation_p.D451G|IPO5_uc010til.1_Missense_Mutation_p.D516G|IPO5_uc001vng.1_Missense_Mutation_p.D197G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	576					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98662198	98662198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98662198T>A	uc001vnf.1	+	16	1929	c.1864T>A	c.(1864-1866)TAC>AAC	p.Y622N	IPO5_uc001vne.2_Missense_Mutation_p.Y640N|IPO5_uc010tik.1_Missense_Mutation_p.Y497N|IPO5_uc010til.1_Missense_Mutation_p.Y562N|IPO5_uc001vng.1_Missense_Mutation_p.Y243N	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	622					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98666423	98666423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98666423A>T	uc001vne.2	+	22	2514	c.2334A>T	c.(2332-2334)GAA>GAT	p.E778D		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	760					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98671963	98671963	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98671963G>A	uc001vne.2	+	27	3199	c.3019G>A	c.(3019-3021)GTT>ATT	p.V1007I		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	989					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673356	98673356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673356A>G	uc001vne.2	+	28	3410	c.3230A>G	c.(3229-3231)AAA>AGA	p.K1077R		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1059					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RNF113B	140432	broad.mit.edu	37	13	98829068	98829068	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98829068C>A	uc001vnk.2	-	1	454	c.423G>T	c.(421-423)CGG>CGT	p.R141R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	141							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)															---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99045891	99045891	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99045891T>C	uc001vnj.2	+						FARP1_uc001vnh.2_Intron	NM_005766	NP_005757			FERM, RhoGEF, and pleckstrin domain protein 1						regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99461670	99461670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99461670G>A	uc001vnt.2	-	48	5361	c.5306C>T	c.(5305-5307)ACC>ATC	p.T1769I	DOCK9_uc001vnw.2_Missense_Mutation_p.T1768I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1746I|DOCK9_uc001vnq.2_Missense_Mutation_p.T318I|DOCK9_uc001vnr.2_Missense_Mutation_p.T412I|DOCK9_uc010tin.1_Missense_Mutation_p.T389I|DOCK9_uc001vns.2_Missense_Mutation_p.T318I|DOCK9_uc010tio.1_Missense_Mutation_p.T438I|DOCK9_uc010tip.1_Missense_Mutation_p.T479I|DOCK9_uc001vnu.1_Missense_Mutation_p.T318I|DOCK9_uc010tiq.1_Missense_Mutation_p.T724I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1769	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99476757	99476757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99476757G>A	uc001vnt.2	-	46	5083	c.5028C>T	c.(5026-5028)GGC>GGT	p.G1676G	DOCK9_uc001vnw.2_Silent_p.G1675G|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.G1653G|DOCK9_uc001vnq.2_Silent_p.G225G|DOCK9_uc001vnr.2_Silent_p.G319G|DOCK9_uc010tin.1_Silent_p.G296G|DOCK9_uc001vns.2_Silent_p.G225G|DOCK9_uc010tio.1_Silent_p.G345G|DOCK9_uc010tip.1_Silent_p.G386G|DOCK9_uc001vnu.1_Silent_p.G225G|DOCK9_uc010tiq.1_Silent_p.G631G	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1676	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99520175	99520175	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99520175G>A	uc001vnt.2	-						DOCK9_uc001vnw.2_Intron|DOCK9_uc001vnv.1_Intron|DOCK9_uc010tir.1_Intron|DOCK9_uc010tis.1_Intron|DOCK9_uc010tit.1_Intron|DOCK9_uc010tiq.1_Intron|DOCK9_uc010afu.1_Intron	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99538086	99538086	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99538086C>T	uc001vnt.2	-	20	2195	c.2140_splice	c.e20-1	p.I714_splice	DOCK9_uc001vnw.2_Splice_Site_p.I713_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.I714_splice|DOCK9_uc010tis.1_Splice_Site_p.I713_splice|DOCK9_uc010tit.1_Splice_Site_p.I714_splice|DOCK9_uc010afu.1_Splice_Site_p.I529_splice	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100617835	100617835	+	Silent	SNP	G	A	A	rs148340592	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100617835G>A	uc001vom.1	-	2	2037	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	596					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100959498	100959498	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100959498A>T	uc001voo.2	+	15	1375	c.1337A>T	c.(1336-1338)GAT>GTT	p.D446V	PCCA_uc010aga.2_Missense_Mutation_p.D420V|PCCA_uc010tiz.1_Missense_Mutation_p.D446V|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	446	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)													---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287129	101287129	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101287129C>A	uc001vou.2	-	11	1539	c.1379G>T	c.(1378-1380)CGC>CTC	p.R460L	TMTC4_uc001vot.2_Missense_Mutation_p.R479L|TMTC4_uc010tja.1_Missense_Mutation_p.R349L|TMTC4_uc001vov.1_Missense_Mutation_p.R205L|TMTC4_uc001vow.1_Missense_Mutation_p.R243L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	460	TPR 1.|Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101290265	101290265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101290265C>T	uc001vou.2	-	7	856	c.696G>A	c.(694-696)GCG>GCA	p.A232A	TMTC4_uc001vot.2_Silent_p.A251A|TMTC4_uc010tja.1_Silent_p.A121A|TMTC4_uc001vov.1_5'UTR|TMTC4_uc001vow.1_Silent_p.A15A	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	232	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101707766	101707766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101707766C>T	uc001vox.1	-	44	5287	c.5098G>A	c.(5098-5100)GTG>ATG	p.V1700M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1700	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101733920	101733920	+	Silent	SNP	C	T	T	rs151200877	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101733920C>T	uc001vox.1	-	34	4032	c.3843G>A	c.(3841-3843)ACG>ACA	p.T1281T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1281	Helical; Name=S3 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101757279	101757279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101757279C>A	uc001vox.1	-	23	2791	c.2602G>T	c.(2602-2604)GGA>TGA	p.G868*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	868	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101910797	101910797	+	Silent	SNP	C	T	T	rs140469887		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101910797C>T	uc001vox.1	-	11	1452	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	NALCN_uc001voy.2_Silent_p.A136A|NALCN_uc001voz.2_Silent_p.A421A|NALCN_uc001vpa.2_Silent_p.A421A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	421	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
C13orf27	93081	broad.mit.edu	37	13	103420632	103420632	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103420632T>C	uc001vpo.2	-	4	454	c.276A>G	c.(274-276)AAA>AAG	p.K92K	C13orf27_uc001vpn.2_Silent_p.K51K|C13orf27_uc001vpp.2_Silent_p.K51K	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	92											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107145577	107145577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107145577T>C	uc001vqi.2	-	5	838	c.813A>G	c.(811-813)ACA>ACG	p.T271T		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	271	Cytoplasmic (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107148116	107148116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107148116A>T	uc001vqi.2	-	3	504	c.479T>A	c.(478-480)ATC>AAC	p.I160N		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	160	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518877	108518877	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518877C>T	uc001vql.2	-	1	584	c.68G>A	c.(67-69)CGA>CAA	p.R23Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral to membrane	binding			skin(1)	1																		---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861796	108861796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861796A>G	uc001vqn.2	-	2	2094	c.1821T>C	c.(1819-1821)TCT>TCC	p.S607S	LIG4_uc001vqo.2_Silent_p.S607S|LIG4_uc010agg.1_Silent_p.S540S|LIG4_uc010agf.2_Silent_p.S607S|LIG4_uc001vqp.2_Silent_p.S607S	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	607					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861807	108861807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861807C>T	uc001vqn.2	-	2	2083	c.1810G>A	c.(1810-1812)GGG>AGG	p.G604R	LIG4_uc001vqo.2_Missense_Mutation_p.G604R|LIG4_uc010agg.1_Missense_Mutation_p.G537R|LIG4_uc010agf.2_Missense_Mutation_p.G604R|LIG4_uc001vqp.2_Missense_Mutation_p.G604R	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	604					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861847	108861847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861847C>T	uc001vqn.2	-	2	2043	c.1770G>A	c.(1768-1770)TGG>TGA	p.W590*	LIG4_uc001vqo.2_Nonsense_Mutation_p.W590*|LIG4_uc010agg.1_Nonsense_Mutation_p.W523*|LIG4_uc010agf.2_Nonsense_Mutation_p.W590*|LIG4_uc001vqp.2_Nonsense_Mutation_p.W590*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	590					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109438032	109438032	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109438032A>T	uc001vqt.1	+	5	617	c.491A>T	c.(490-492)GAT>GTT	p.D164V	MYO16_uc010agk.1_Missense_Mutation_p.D186V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	164	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109831918	109831918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109831918G>A	uc001vqt.1	+	34	5412	c.5286G>A	c.(5284-5286)CGG>CGA	p.R1762R	MYO16_uc010agk.1_Silent_p.R1784R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1762					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110822921	110822921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110822921C>T	uc001vqw.3	-	42	3837	c.3715G>A	c.(3715-3717)GGA>AGA	p.G1239R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1239	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110853999	110853999	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110853999A>G	uc001vqw.3	-						COL4A1_uc010agl.2_Intron	NM_001845	NP_001836			alpha 1 type IV collagen preproprotein						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111147818	111147818	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111147818A>C	uc001vqx.2	+							NM_001846	NP_001837			alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111862257	111862257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111862257T>C	uc001vrs.2	+	5	689	c.439T>C	c.(439-441)TCG>CCG	p.S147P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S126P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S97P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S44P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	147					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111927973	111927973	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111927973T>C	uc001vrs.2	+	13	1680	c.1430T>C	c.(1429-1431)CTG>CCG	p.L477P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.L456P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.L427P|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.L299P|ARHGEF7_uc001vrv.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrw.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrx.3_Missense_Mutation_p.L299P|ARHGEF7_uc010tjo.1_Missense_Mutation_p.L374P|ARHGEF7_uc010tjp.1_Missense_Mutation_p.L221P|ARHGEF7_uc010agn.1_Missense_Mutation_p.L221P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	477	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
C13orf28	122258	broad.mit.edu	37	13	113053461	113053461	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113053461G>T	uc001vsd.1	+	4	354	c.323G>T	c.(322-324)GGC>GTC	p.G108V		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	108						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)																	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113513704	113513704	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113513704C>T	uc001vsi.3	+						ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron|ATP11A_uc010ago.2_Intron	NM_015205	NP_056020			ATPase, class VI, type 11A isoform a						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113532535	113532535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113532535A>G	uc001vsi.3	+	29	3420	c.3332A>G	c.(3331-3333)AAG>AGG	p.K1111R	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1111	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113669143	113669143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113669143G>A	uc001vsu.2	+	2	339	c.317G>A	c.(316-318)CGC>CAC	p.R106H	MCF2L_uc001vsq.2_Missense_Mutation_p.R106H|MCF2L_uc010tjr.1_Missense_Mutation_p.R49H|MCF2L_uc001vsr.2_Missense_Mutation_p.R53H|MCF2L_uc001vss.3_Missense_Mutation_p.R47H|MCF2L_uc010tjs.1_Missense_Mutation_p.R47H	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	79	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)																---	---	---	---
F7	2155	broad.mit.edu	37	13	113773089	113773089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113773089G>A	uc001vsv.2	+	9	1219	c.1168G>A	c.(1168-1170)GCC>ACC	p.A390T	F7_uc001vsw.2_Missense_Mutation_p.A368T|F7_uc010tjt.1_Missense_Mutation_p.A321T	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	390	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)													---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113975975	113975975	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113975975G>A	uc001vtm.1	+	8	1328	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	LAMP1_uc010tka.1_Silent_p.A296A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	349	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)															---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114324068	114324068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114324068G>A	uc010tkf.1	+	2	874	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	256	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)															---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114531690	114531690	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114531690G>T	uc001vud.2	-						GAS6_uc001vug.2_Intron|GAS6_uc001vuf.2_Intron	NM_000820	NP_000811			growth arrest-specific 6 isoform 1 precursor						cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114537624	114537624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114537624C>T	uc001vud.2	-	8	887	c.734G>A	c.(733-735)GGC>GAC	p.G245D	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	245	EGF-like 4; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114780792	114780792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114780792T>C	uc001vui.2	-	14	1429	c.1298A>G	c.(1297-1299)TAT>TGT	p.Y433C	RASA3_uc010tkk.1_Missense_Mutation_p.Y401C|RASA3_uc001vuj.2_Missense_Mutation_p.Y50C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	433	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115009468	115009468	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115009468A>G	uc001vuk.1	+						CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249085	20249085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20249085A>G	uc010tku.1	+	1	604	c.604A>G	c.(604-606)AGT>GGT	p.S202G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296017	20296017	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296017A>T	uc010tkv.1	+	1	410	c.410A>T	c.(409-411)AAC>ATC	p.N137I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389618	20389618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389618A>G	uc010tkw.1	+	1	853	c.853A>G	c.(853-855)ATT>GTT	p.I285V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612317	20612317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20612317C>T	uc010tla.1	+	1	423	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)														---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20666363	20666363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20666363A>G	uc010tlb.1	+	1	869	c.869A>G	c.(868-870)TAC>TGC	p.Y290C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	290	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20845495	20845495	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20845495A>G	uc001vxe.2	-	41	6072	c.6032T>C	c.(6031-6033)TTC>TCC	p.F2011S	TEP1_uc010ahk.2_Missense_Mutation_p.F1354S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903S|TEP1_uc010tlh.1_Missense_Mutation_p.F349S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2011	WD 10.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846301	20846301	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846301A>C	uc001vxe.2	-	39	5643	c.5603T>G	c.(5602-5604)CTG>CGG	p.L1868R	TEP1_uc010ahk.2_Missense_Mutation_p.L1211R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L1760R|TEP1_uc010tlh.1_Missense_Mutation_p.L206R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1868	WD 6.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846985	20846985	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846985G>A	uc001vxe.2	-	37	5320	c.5280C>T	c.(5278-5280)TAC>TAT	p.Y1760Y	TEP1_uc010ahk.2_Silent_p.Y1103Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.Y1652Y|TEP1_uc010tlh.1_Silent_p.Y98Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1760	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20850794	20850794	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20850794C>T	uc001vxe.2	-	28	4168	c.4128G>A	c.(4126-4128)ACG>ACA	p.T1376T	TEP1_uc010ahk.2_Silent_p.T719T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1268T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1376	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20859807	20859807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20859807A>G	uc001vxe.2	-	13	2088	c.2048T>C	c.(2047-2049)CTG>CCG	p.L683P	TEP1_uc010ahk.2_Missense_Mutation_p.L33P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L575P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	683					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
APEX1	328	broad.mit.edu	37	14	20924885	20924885	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20924885A>T	uc001vxg.2	+	4	637	c.305A>T	c.(304-306)AAC>ATC	p.N102I	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Missense_Mutation_p.N102I|APEX1_uc001vxi.2_Missense_Mutation_p.N102I|APEX1_uc001vxj.2_Missense_Mutation_p.N102I	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	102					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)								Direct_reversal_of_damage|Other_BER_factors					---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360111	21360111	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21360111G>A	uc001vyj.2	+	2	320	c.266G>A	c.(265-267)TGC>TAC	p.C89Y		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	89					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)													---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21561223	21561223	+	Missense_Mutation	SNP	G	A	A	rs113186130		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21561223G>A	uc001vzr.2	-	3	654	c.233C>T	c.(232-234)GCG>GTG	p.A78V	ZNF219_uc001vzs.2_Missense_Mutation_p.A78V|ZNF219_uc010aik.1_Missense_Mutation_p.A78V	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	78	C2H2-type 1.				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)												OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679995	21679995	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21679995A>T	uc001vzy.2	-	7	894	c.650T>A	c.(649-651)ATT>AAT	p.I217N	HNRNPC_uc001vzw.2_Missense_Mutation_p.I204N|HNRNPC_uc001wad.2_Missense_Mutation_p.I137N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.I204N|HNRNPC_uc001waa.2_Missense_Mutation_p.I217N|HNRNPC_uc010ail.2_Missense_Mutation_p.I217N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.I204N|HNRNPC_uc001wac.2_Missense_Mutation_p.I161N|HNRNPC_uc010tlr.1_Missense_Mutation_p.I82N|HNRNPC_uc001waf.2_Missense_Mutation_p.I204N|HNRNPC_uc001wae.2_Missense_Mutation_p.I204N	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	217	Asp/Glu-rich (acidic).			I -> M (in Ref. 1 and 2).		catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860770	21860770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21860770A>G	uc001was.1	-	34	5924	c.5830T>C	c.(5830-5832)TCC>CCC	p.S1944P	CHD8_uc001war.1_Missense_Mutation_p.S1840P|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2223					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21961062T>A	uc001waz.2	+	7	1390	c.1287T>A	c.(1285-1287)GCT>GCA	p.A429A	TOX4_uc001way.2_Silent_p.A299A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.A406A|TOX4_uc010tlv.1_Silent_p.A299A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	429	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)														---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971372	21971372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21971372G>A	uc001wbc.2	-	3	759	c.667C>T	c.(667-669)CTG>TTG	p.L223L	METTL3_uc001wbb.2_Silent_p.L68L|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Silent_p.L223L|METTL3_uc001wbd.1_Silent_p.L223L	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	223					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22111776	22111776	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22111776A>T	uc001wbk.3	+	2	380	c.347A>T	c.(346-348)GAC>GTC	p.D116V						SubName: Full=Putative uncharacterized protein ENSP00000374930;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22192552	22192552	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22192552C>A	uc001wbn.2	+	2		c.455C>A								Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22204524	22204524	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22204524C>T	uc010aio.1	+	1		c.73C>T			uc001wbp.2_Silent_p.I8I|uc010aip.1_Silent_p.I8I					Homo sapiens mRNA for T cell receptor alpha variable 4, partial cds, clone: SEB 72.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22279669	22279669	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22279669T>A	uc010tmf.1	+						uc001wbv.2_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000374943;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315173	22315173	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315173G>A	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Silent_p.P18P|uc001wbz.1_Silent_p.P37P					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315190	22315190	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315190A>G	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Missense_Mutation_p.N24S|uc001wbz.1_Missense_Mutation_p.N43S					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22434047	22434047	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22434047A>C	uc001wbw.2	+						uc010tmg.1_Missense_Mutation_p.S34R|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Missense_Mutation_p.S34R					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22446920	22446920	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22446920T>G	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_5'Flank|uc010tml.1_RNA|uc010tmm.1_Missense_Mutation_p.M1R|uc010tmn.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																												OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22466369	22466369	+	Intron	SNP	G	A	A	rs138258262	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22466369G>A	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Missense_Mutation_p.R100Q|uc001wcp.2_Missense_Mutation_p.R100Q|uc001wcr.1_Missense_Mutation_p.R60Q|uc001wcs.1_Missense_Mutation_p.R60Q|uc010ajf.1_Missense_Mutation_p.R60Q|uc001wcq.2_Missense_Mutation_p.R100Q|uc010ajd.1_Missense_Mutation_p.R100Q					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22564661	22564661	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22564661G>A	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc010tmp.1_RNA|uc001wda.1_RNA					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22600556	22600556	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22600556A>G	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc010tmq.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22670518	22670518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22670518T>C	uc001wbw.2	+						uc010aiv.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Splice_Site_p.G14_splice|uc010ajm.1_Splice_Site					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22783351	22783351	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22783351A>G	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	23002485	23002485	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23002485G>A	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wde.1_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfp.2_Intron|uc001wfq.1_Intron|uc001wfr.1_Intron|uc010ajz.1_Intron|uc001wfs.1_Intron|uc001wft.1_Intron|uc001wfu.2_Intron|uc001wfv.1_Intron|uc001wfw.1_Intron|uc001wfx.2_Intron|uc001wfy.1_Intron|uc001wfz.1_Intron|uc001wgb.2_RNA|uc001wgc.2_Intron|uc001wgd.2_Intron|uc001wge.3_5'UTR|uc001wgf.2_5'Flank|uc010tmw.1_5'Flank|uc010tmx.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23239726	23239726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23239726G>A	uc001wgn.2	+	6	906	c.906G>A	c.(904-906)GTG>GTA	p.V302V	OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.V302V|OXA1L_uc001wgp.2_Silent_p.V226V|OXA1L_uc001wgq.2_Silent_p.V6V	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	242	Mitochondrial matrix (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)														---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23467914	23467914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23467914T>C	uc001wib.1	-	2	629	c.319A>G	c.(319-321)ATC>GTC	p.I107V	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.I107V|C14orf93_uc001wig.2_Missense_Mutation_p.I107V|C14orf93_uc001wih.2_Missense_Mutation_p.I107V|C14orf93_uc001wie.2_Missense_Mutation_p.I107V|C14orf93_uc001wia.3_Missense_Mutation_p.I107V|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	107						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)														---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23530297	23530297	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23530297C>A	uc001wit.3	-	18	4023	c.3695G>T	c.(3694-3696)AGC>ATC	p.S1232I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.S474I|ACIN1_uc001wiq.3_Missense_Mutation_p.S474I|ACIN1_uc001wir.3_Missense_Mutation_p.S505I|ACIN1_uc001wis.3_Missense_Mutation_p.S913I|ACIN1_uc010akg.2_Missense_Mutation_p.S1219I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1232	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745847	23745847	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23745847C>G	uc001wja.2	-	2	738	c.590G>C	c.(589-591)AGT>ACT	p.S197T	HOMEZ_uc001wjb.2_Missense_Mutation_p.S199T	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746167	23746167	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23746167T>C	uc001wja.2	-	2	418	c.270A>G	c.(268-270)CTA>CTG	p.L90L	HOMEZ_uc001wjb.2_Silent_p.L92L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	90	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855309	23855309	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23855309C>T	uc001wjv.2	-	34	5058	c.4991G>A	c.(4990-4992)CGT>CAT	p.R1664H		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1664	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23858074	23858074	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23858074T>C	uc001wjv.2	-	29	4236	c.4169A>G	c.(4168-4170)GAG>GGG	p.E1390G	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1390	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868101	23868101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23868101G>A	uc001wjv.2	-	15	1794	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	576	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874991	23874991	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874991G>A	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884255	23884255	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23884255C>T	uc001wjx.2	-	37	5614	c.5508G>A	c.(5506-5508)TCG>TCA	p.S1836S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1836	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24569212	24569212	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24569212C>T	uc001wlt.2	+	7	1156	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R354W|PCK2_uc001wls.2_Missense_Mutation_p.R342W|PCK2_uc010tnw.1_Missense_Mutation_p.R208W|PCK2_uc010ald.2_Missense_Mutation_p.P285L|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R208W|PCK2_uc001wlu.3_Missense_Mutation_p.R208W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	342					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
FITM1	161247	broad.mit.edu	37	14	24600921	24600921	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24600921C>A	uc001wmf.2	+	1	247	c.149C>A	c.(148-150)CCC>CAC	p.P50H		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	50	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24632717	24632717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24632717T>C	uc001wmq.2	+	4	622	c.495T>C	c.(493-495)AAT>AAC	p.N165N	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Silent_p.N63N	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	165					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)														---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24705334	24705334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24705334G>A	uc001wnr.2	+	5	835	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Silent_p.Q151Q|GMPR2_uc001wnt.2_Intron|GMPR2_uc001wnu.2_Silent_p.Q115Q|GMPR2_uc001wnw.2_Silent_p.Q151Q|GMPR2_uc010all.2_Silent_p.Q123Q|GMPR2_uc001wnx.2_Silent_p.Q169Q|GMPR2_uc010tod.1_Intron|GMPR2_uc010alk.1_Silent_p.Q151Q|GMPR2_uc010toe.1_Silent_p.Q151Q	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	151					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24808444	24808444	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24808444T>A	uc001wpb.2	-	3	458	c.248A>T	c.(247-249)AAC>ATC	p.N83I	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N83I	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	83	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24839280	24839280	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24839280A>T	uc001wpc.2	+	2	997	c.676A>T	c.(676-678)ACC>TCC	p.T226S	NFATC4_uc010tok.1_Missense_Mutation_p.T289S|NFATC4_uc010tol.1_Missense_Mutation_p.T289S|NFATC4_uc010alr.2_Missense_Mutation_p.T289S|NFATC4_uc010als.2_Missense_Mutation_p.T239S|NFATC4_uc010tom.1_Missense_Mutation_p.T239S|NFATC4_uc010ton.1_Missense_Mutation_p.T239S|NFATC4_uc010too.1_Missense_Mutation_p.T239S|NFATC4_uc010alt.2_Missense_Mutation_p.T258S|NFATC4_uc010top.1_Missense_Mutation_p.T258S|NFATC4_uc010toq.1_Missense_Mutation_p.T258S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.T226S|NFATC4_uc010tos.1_Missense_Mutation_p.T156S|NFATC4_uc010tot.1_Missense_Mutation_p.T214S|NFATC4_uc010tou.1_Missense_Mutation_p.T156S|NFATC4_uc010tov.1_Missense_Mutation_p.T214S|NFATC4_uc010tow.1_Missense_Mutation_p.T156S|NFATC4_uc010alv.2_Missense_Mutation_p.T214S|NFATC4_uc010tox.1_Missense_Mutation_p.T156S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	226	SP 1.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043577	25043577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25043577T>C	uc001wpq.2	-	4	505	c.468A>G	c.(466-468)ACA>ACG	p.T156T		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	156	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25044505	25044505	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25044505C>T	uc001wpq.2	-	2	206	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	57	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26918159	26918159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:26918159A>G	uc001wpy.2	-	5	848	c.530T>C	c.(529-531)ATA>ACA	p.I177T	NOVA1_uc001wpz.2_Missense_Mutation_p.I153T|NOVA1_uc001wqa.2_Missense_Mutation_p.I55T	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	180	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)														---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30068262	30068262	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30068262A>G	uc001wqh.2	-	15	2318	c.2137T>C	c.(2137-2139)TTG>CTG	p.L713L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	713	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31050312	31050312	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31050312A>G	uc001wqk.2	+	2	181	c.27A>G	c.(25-27)TCA>TCG	p.S9S	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Intron	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	9					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31071242	31071242	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31071242T>A	uc001wqk.2	+	10	1069	c.915T>A	c.(913-915)AAT>AAA	p.N305K	G2E3_uc010tpe.1_Missense_Mutation_p.N220K|G2E3_uc010tpf.1_Missense_Mutation_p.N259K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	305					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31191743	31191743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31191743A>G	uc001wqm.1	+	23	1838	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	SCFD1_uc001wqn.1_Missense_Mutation_p.Q538R|SCFD1_uc010tpg.1_Missense_Mutation_p.Q546R|SCFD1_uc010tph.1_Missense_Mutation_p.Q420R|SCFD1_uc010amf.1_Missense_Mutation_p.Q420R|SCFD1_uc010tpi.1_Missense_Mutation_p.Q513R|SCFD1_uc010ame.1_Missense_Mutation_p.R527G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	605					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31554098	31554098	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31554098G>T	uc001wqy.3	+						AP4S1_uc001wqw.3_3'UTR|AP4S1_uc001wqx.3_3'UTR|AP4S1_uc010amh.2_3'UTR|AP4S1_uc001wqz.3_Intron	NM_001128126	NP_001121598			adaptor-related protein complex 4, sigma 1							coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31856444	31856444	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31856444A>T	uc001wrf.3	-	2	269	c.192T>A	c.(190-192)TGT>TGA	p.C64*	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Nonsense_Mutation_p.C357*	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	351							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32561822	32561822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32561822G>A	uc001wrl.2	+	2	2186	c.1947G>A	c.(1945-1947)TGG>TGA	p.W649*	ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	649					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562224	32562224	+	Silent	SNP	C	T	T	rs61737878	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562224C>T	uc001wrl.2	+	2	2588	c.2349C>T	c.(2347-2349)TGC>TGT	p.C783C	ARHGAP5_uc001wrm.2_Silent_p.C783C|ARHGAP5_uc001wrn.2_Silent_p.C783C|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	783					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562668	32562668	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562668T>C	uc001wrl.2	+	2	3032	c.2793T>C	c.(2791-2793)TTT>TTC	p.F931F	ARHGAP5_uc001wrm.2_Silent_p.F931F|ARHGAP5_uc001wrn.2_Silent_p.F931F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	931					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33290606	33290606	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33290606A>G	uc001wrq.2	+	13	3759	c.3589_splice	c.e13-2	p.E1197_splice		NM_004274	NP_004265			A-kinase anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35264961	35264961	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35264961T>C	uc001wsk.2	-	10	1707	c.1139A>G	c.(1138-1140)AAG>AGG	p.K380R	BAZ1A_uc001wsl.2_Missense_Mutation_p.K380R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	380	Potential.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)														---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35487907	35487907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35487907C>T	uc001wso.2	+	12	1334	c.983C>T	c.(982-984)ACG>ATG	p.T328M	SRP54_uc010tpp.1_Missense_Mutation_p.T279M|SRP54_uc010tpq.1_Missense_Mutation_p.T264M	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	328	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780027	35780027	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780027A>G	uc001wtd.2	+	4	444	c.335A>G	c.(334-336)GAC>GGC	p.D112G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D33G|PSMA6_uc010tpu.1_Missense_Mutation_p.D33G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780041	35780041	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780041A>G	uc001wtd.2	+	4	458	c.349A>G	c.(349-351)AGA>GGA	p.R117G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.R38G|PSMA6_uc010tpu.1_Missense_Mutation_p.R38G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36143454	36143454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36143454T>C	uc001wti.2	-	23	3722	c.3331A>G	c.(3331-3333)AAC>GAC	p.N1111D	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1111D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1124D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1158D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1111					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36221254	36221254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36221254T>C	uc001wti.2	-	8	1169	c.778A>G	c.(778-780)AAC>GAC	p.N260D	RALGAPA1_uc001wtj.2_Missense_Mutation_p.N260D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N260D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N260D|RALGAPA1_uc001wtk.1_Missense_Mutation_p.N111D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	260					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36784000	36784000	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36784000A>G	uc001wtm.2	-	3	459	c.371T>C	c.(370-372)CTA>CCA	p.L124P	MBIP_uc001wto.2_Missense_Mutation_p.L124P|MBIP_uc010tpy.1_Missense_Mutation_p.Y9H|MBIP_uc001wtn.2_Missense_Mutation_p.L124P	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	124					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132275	37132275	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132275T>C	uc001wty.3	+	3	895	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	60	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132666	37132666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132666G>A	uc001wty.3	+	3	1286	c.569G>A	c.(568-570)CGC>CAC	p.R190H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	190					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37180557	37180557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37180557T>C	uc001wtz.1	-	7	879	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	190	Solcar 2.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37194876	37194876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37194876C>T	uc001wtz.1	-	6	647	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	113	Solcar 2.|Helical; Name=3; (Potential).				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37892127	37892127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37892127A>G	uc001wuc.2	+	12	1507	c.1004A>G	c.(1003-1005)GAA>GGA	p.E335G	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E304G|MIPOL1_uc001wud.2_Missense_Mutation_p.E335G|MIPOL1_uc010ams.2_Missense_Mutation_p.E335G|MIPOL1_uc001wue.2_Missense_Mutation_p.E304G|MIPOL1_uc010amt.2_Missense_Mutation_p.E154G	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	335	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969207	37969207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37969207A>G	uc001wuc.2	+	13	1629	c.1126A>G	c.(1126-1128)ATT>GTT	p.I376V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.I345V|MIPOL1_uc001wud.2_Missense_Mutation_p.I376V|MIPOL1_uc010ams.2_Missense_Mutation_p.I376V|MIPOL1_uc001wue.2_Missense_Mutation_p.I345V|MIPOL1_uc010amt.2_Missense_Mutation_p.I195V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	376	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38265994	38265994	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38265994C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.L21F|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.L21F					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38295401	38295401	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38295401C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.A292V|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.A389V					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38296418	38296418	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38296418A>G	uc001wug.2	+						uc001wuh.2_Silent_p.E348E|uc001wui.2_RNA|uc001wuj.2_Silent_p.E445E					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724773	38724773	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38724773A>T	uc001wum.1	-	1	802	c.455T>A	c.(454-456)GTC>GAC	p.V152D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	152	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39562382	39562382	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39562382T>C	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_5'Flank	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39771359	39771359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39771359G>A	uc001wvg.3	+	10	1158	c.822G>A	c.(820-822)ATG>ATA	p.M274I	CTAGE5_uc010tqe.1_Missense_Mutation_p.M236I|CTAGE5_uc001wuz.3_Missense_Mutation_p.M262I|CTAGE5_uc001wuy.3_Missense_Mutation_p.M194I|CTAGE5_uc001wvb.3_Missense_Mutation_p.M245I|CTAGE5_uc001wvc.3_Missense_Mutation_p.M219I|CTAGE5_uc001wva.3_Missense_Mutation_p.M245I|CTAGE5_uc001wve.1_Missense_Mutation_p.M250I|CTAGE5_uc001wvh.3_Missense_Mutation_p.M274I|CTAGE5_uc001wvf.3_Missense_Mutation_p.M199I|CTAGE5_uc001wvi.3_Missense_Mutation_p.M279I|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.M245I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	274							enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)														---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39871660	39871660	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39871660T>G	uc001wvk.2	-	2	993	c.655A>C	c.(655-657)AGT>CGT	p.S219R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	219											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975832	44975832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975832T>C	uc001wvn.2	-	1	668	c.359A>G	c.(358-360)AAC>AGC	p.N120S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	120						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45398323	45398323	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45398323T>C	uc001wvq.2	-	5	1870	c.1624A>G	c.(1624-1626)ACA>GCA	p.T542A	KLHL28_uc001wvr.2_Missense_Mutation_p.T542A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	542	Kelch 6.									ovary(1)	1																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45432481	45432481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45432481G>A	uc001wvv.2	+	1	1066	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R286Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R286Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R286Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	286							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45433203	45433203	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45433203C>T	uc001wvv.2	+	1	1788	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	FAM179B_uc001wvw.2_Missense_Mutation_p.R527C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R527C|FAM179B_uc001wvu.2_Missense_Mutation_p.R527C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	527	HEAT 4.						binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645393	45645393	+	Missense_Mutation	SNP	G	A	A	rs142077813		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645393G>A	uc001wwd.3	+	14	3535	c.3436G>A	c.(3436-3438)GAT>AAT	p.D1146N	FANCM_uc010anf.2_Missense_Mutation_p.D1120N|FANCM_uc001wwe.3_Missense_Mutation_p.D682N|FANCM_uc010ang.2_Missense_Mutation_p.D360N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1146					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45658140	45658140	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45658140A>G	uc001wwd.3	+	20	5014	c.4915A>G	c.(4915-4917)AAA>GAA	p.K1639E	FANCM_uc010anf.2_Missense_Mutation_p.K1613E|FANCM_uc001wwe.3_Missense_Mutation_p.K1175E|FANCM_uc010ang.2_Missense_Mutation_p.K853E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1639					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665602	45665602	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665602C>A	uc001wwd.3	+	21	5667	c.5568C>A	c.(5566-5568)ATC>ATA	p.I1856I	FANCM_uc010anf.2_Silent_p.I1830I|FANCM_uc001wwe.3_Silent_p.I1392I|FANCM_uc010ang.2_Silent_p.I1105I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1856	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665650	45665650	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665650A>G	uc001wwd.3	+	21	5715	c.5616A>G	c.(5614-5616)TTA>TTG	p.L1872L	FANCM_uc010anf.2_Silent_p.L1846L|FANCM_uc001wwe.3_Silent_p.L1408L|FANCM_uc010ang.2_Silent_p.L1121L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1872	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
C14orf106	55320	broad.mit.edu	37	14	45675336	45675336	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45675336A>T	uc001wwf.2	-	15	3649	c.3190T>A	c.(3190-3192)TAT>AAT	p.Y1064N		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1064					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---
C14orf104	55172	broad.mit.edu	37	14	50101028	50101028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50101028G>A	uc001wws.3	-	1	921	c.840C>T	c.(838-840)CCC>CCT	p.P280P	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.P280P	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	280					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)													Kartagener_syndrome				---	---	---	---
SDCCAG1	9147	broad.mit.edu	37	14	50255864	50255864	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50255864C>T	uc001wxc.2	-	28	2963	c.2895G>A	c.(2893-2895)AAG>AAA	p.K965K	SDCCAG1_uc010anj.1_Silent_p.K965K|SDCCAG1_uc001wwz.2_Silent_p.K165K|SDCCAG1_uc001wxa.2_Silent_p.K245K|SDCCAG1_uc010tqi.1_Silent_p.K944K|SDCCAG1_uc001wxe.2_Silent_p.K923K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	965						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)														---	---	---	---
C14orf183	196913	broad.mit.edu	37	14	50550523	50550523	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50550523G>A	uc010tqk.1	-	5	821	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	274											0																		---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50647365	50647365	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50647365C>A	uc001wxs.3	-	7	992	c.894G>T	c.(892-894)CAG>CAT	p.Q298H	SOS2_uc010tql.1_Missense_Mutation_p.Q298H|SOS2_uc001wxt.2_Translation_Start_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	298	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50904618	50904618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50904618A>G	uc001wya.2	-	24	2137	c.1817T>C	c.(1816-1818)CTA>CCA	p.L606P	MAP4K5_uc001wyb.2_Missense_Mutation_p.L606P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	606	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)																	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51208418	51208418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51208418T>G	uc001wym.2	-	25	5521	c.5330A>C	c.(5329-5331)AAT>ACT	p.N1777T	NIN_uc001wyi.2_Missense_Mutation_p.N1777T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N1064T|NIN_uc010tqp.1_Missense_Mutation_p.N1783T|NIN_uc001wyo.2_Missense_Mutation_p.N1777T|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1777	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51210974	51210974	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51210974C>A	uc001wym.2	-	23	5365	c.5174G>T	c.(5173-5175)AGC>ATC	p.S1725I	NIN_uc001wyi.2_Missense_Mutation_p.S1725I|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.S1012I|NIN_uc010tqp.1_Missense_Mutation_p.S1731I|NIN_uc001wyo.2_Missense_Mutation_p.S1725I	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1725	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51245521	51245521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51245521T>C	uc001wym.2	-	6	628	c.437A>G	c.(436-438)CAC>CGC	p.H146R	NIN_uc001wyi.2_Missense_Mutation_p.H146R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H146R|NIN_uc010tqp.1_Missense_Mutation_p.H152R|NIN_uc001wyo.2_Missense_Mutation_p.H146R|NIN_uc001wyp.1_Missense_Mutation_p.H108R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	146					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51352376	51352376	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51352376A>G	uc001wys.2	+	6	546	c.531A>G	c.(529-531)AGA>AGG	p.R177R	ABHD12B_uc001wyq.2_Silent_p.R70R|ABHD12B_uc001wyr.2_Silent_p.R100R|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	177							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)																	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52194524	52194524	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52194524G>A	uc001wzd.2	+	14	1931	c.1646G>A	c.(1645-1647)AGA>AAA	p.R549K	FRMD6_uc001wzb.2_Missense_Mutation_p.R541K|FRMD6_uc001wzc.2_Missense_Mutation_p.R541K|FRMD6_uc001wze.2_Missense_Mutation_p.R472K|FRMD6_uc001wzf.2_Missense_Mutation_p.R242K|FRMD6_uc001wzg.2_Missense_Mutation_p.R191K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	549						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52495506	52495506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52495506G>A	uc001wzo.2	-	11	2698	c.2464C>T	c.(2464-2466)CCT>TCT	p.P822S	NID2_uc010tqs.1_Missense_Mutation_p.P822S|NID2_uc010tqt.1_Missense_Mutation_p.P822S|NID2_uc001wzp.2_Missense_Mutation_p.P822S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	822	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534616	52534616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52534616G>A	uc001wzo.2	-	2	728	c.494C>T	c.(493-495)GCT>GTT	p.A165V	NID2_uc010tqs.1_Missense_Mutation_p.A165V|NID2_uc010tqt.1_Missense_Mutation_p.A165V|NID2_uc001wzp.2_Missense_Mutation_p.A165V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	165	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52535718	52535718	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52535718C>T	uc001wzo.2	-	1					NID2_uc010tqs.1_5'UTR|NID2_uc010tqt.1_5'UTR|NID2_uc001wzp.2_5'UTR	NM_007361	NP_031387			nidogen 2 precursor							basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52949652	52949652	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52949652A>G	uc001wzs.2	-	13	1589	c.1140T>C	c.(1138-1140)GTT>GTC	p.V380V	TXNDC16_uc010tqu.1_Silent_p.V375V|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	380					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52981596	52981596	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52981596A>G	uc001wzs.2	-	8	1054	c.605_splice	c.e8+1	p.G202_splice	TXNDC16_uc010tqu.1_Splice_Site_p.G197_splice|TXNDC16_uc010aoe.2_Splice_Site	NM_020784	NP_065835			thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53226484	53226484	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53226484T>C	uc010tqy.1	+						STYX_uc001xaa.2_Intron	NM_001130701	NP_001124173			serine/threonine/tyrosine interacting protein						protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)																	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53570477	53570477	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53570477A>T	uc001xai.2	-	2	1166	c.936T>A	c.(934-936)CAT>CAA	p.H312Q	DDHD1_uc001xaj.2_Missense_Mutation_p.H312Q|DDHD1_uc001xah.2_Missense_Mutation_p.H312Q	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	312					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)																	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54418876	54418876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54418876C>T	uc001xal.3	-	2	252	c.65G>A	c.(64-66)AGC>AAC	p.S22N	BMP4_uc010aoh.2_Missense_Mutation_p.S22N|BMP4_uc001xao.3_Missense_Mutation_p.S22N|BMP4_uc001xan.3_Missense_Mutation_p.S22N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	22					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510474	55510474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510474A>G	uc001xbo.2	+	3	1280	c.715A>G	c.(715-717)ACA>GCA	p.T239A	SOCS4_uc001xbp.2_Missense_Mutation_p.T239A	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	239					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510709	55510709	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510709A>G	uc001xbo.2	+	3	1515	c.950A>G	c.(949-951)GAC>GGC	p.D317G	SOCS4_uc001xbp.2_Missense_Mutation_p.D317G	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	317	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
LGALS3	3958	broad.mit.edu	37	14	55609411	55609411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55609411T>C	uc001xbr.2	+	5	692	c.541T>C	c.(541-543)TGG>CGG	p.W181R		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	181	Beta-galactoside binding (By similarity).|Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0																		---	---	---	---
TBPL2	387332	broad.mit.edu	37	14	55907245	55907245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55907245G>A	uc001xby.2	-	1	19	c.19C>T	c.(19-21)CCG>TCG	p.P7S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57070532	57070532	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57070532G>A	uc001xcm.2	+	4	467	c.345_splice	c.e4-1	p.R115_splice	C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xck.2_Splice_Site_p.R115_splice|C14orf101_uc010aot.1_Splice_Site_p.R115_splice|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269			hypothetical protein LOC54916							integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57088287	57088287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57088287T>C	uc001xcm.2	+	11	1387	c.1265T>C	c.(1264-1266)TTC>TCC	p.F422S	C14orf101_uc001xcj.2_Intron|C14orf101_uc001xcl.1_Intron|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron|C14orf101_uc001xco.2_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	422						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
OTX2	5015	broad.mit.edu	37	14	57271037	57271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57271037G>A	uc001xcp.2	-	2	289	c.118C>T	c.(118-120)CGG>TGG	p.R40W	OTX2_uc010aou.2_Missense_Mutation_p.R40W|OTX2_uc001xcq.2_Missense_Mutation_p.R48W	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	40	Homeobox.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)																	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57713439	57713439	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57713439T>C	uc001xct.2	-	3	511	c.260A>G	c.(259-261)AAA>AGA	p.K87R	EXOC5_uc010trg.1_Missense_Mutation_p.K32R|EXOC5_uc010trh.1_Missense_Mutation_p.K87R	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	87	Potential.				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57876098	57876098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57876098T>C	uc001xcx.3	+	5	1107	c.953T>C	c.(952-954)GTT>GCT	p.V318A	NAA30_uc010trk.1_Missense_Mutation_p.V60A|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	318	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1																		---	---	---	---
SLC35F4	341880	broad.mit.edu	37	14	58038710	58038710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58038710C>T	uc001xdb.1	-	5	943	c.943G>A	c.(943-945)GGC>AGC	p.G315S	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.G156S	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2																		---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58701258	58701258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58701258A>G	uc001xdf.2	+	13	1346	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.T217A|ACTR10_uc001xdh.2_Missense_Mutation_p.T217A|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.T205A	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	415						cytoplasm				central_nervous_system(1)	1																		---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58917322	58917322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58917322G>T	uc001xdv.3	+	8	1260	c.987G>T	c.(985-987)ACG>ACT	p.T329T	KIAA0586_uc010trr.1_Silent_p.T370T|KIAA0586_uc001xdt.3_Silent_p.T285T|KIAA0586_uc001xdu.3_Silent_p.T314T|KIAA0586_uc010trs.1_Silent_p.T244T|KIAA0586_uc010trt.1_Silent_p.T189T|KIAA0586_uc010tru.1_Silent_p.T189T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	329										ovary(1)	1																		---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112846	59112846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59112846T>C	uc001xdw.2	+	4	1669	c.1505T>C	c.(1504-1506)GTT>GCT	p.V502A	DACT1_uc010trv.1_Missense_Mutation_p.V221A|DACT1_uc001xdx.2_Missense_Mutation_p.V465A|DACT1_uc010trw.1_Missense_Mutation_p.V221A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	502					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5																		---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097159	60097159	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097159A>T	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60574744	60574744	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60574744C>A	uc001xer.3	+						C14orf135_uc001xeq.2_Intron	NM_022495	NP_071940			hepatitis C virus F protein-binding protein 2							integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60581930	60581930	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60581930A>G	uc001xer.3	+	3	928	c.406A>G	c.(406-408)ACT>GCT	p.T136A	C14orf135_uc001xeq.2_Missense_Mutation_p.T136A	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	370	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60585237	60585237	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60585237T>C	uc001xer.3	+	6	1589	c.1067T>C	c.(1066-1068)TTA>TCA	p.L356S	C14orf135_uc001xeq.2_Missense_Mutation_p.L356S|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	590						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60903672	60903672	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60903672T>G	uc001xez.3	-	18	1765	c.1655A>C	c.(1654-1656)GAT>GCT	p.D552A	C14orf39_uc010apo.2_Missense_Mutation_p.D263A	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	552										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)														---	---	---	---
SIX6	4990	broad.mit.edu	37	14	60976477	60976477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60976477C>T	uc001xfa.3	+	1	540	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	121					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)														---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115821	61115821	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61115821G>A	uc001xfb.3	-	1	335	c.87C>T	c.(85-87)CGC>CGT	p.R29R		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	29					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)														---	---	---	---
MNAT1	4331	broad.mit.edu	37	14	61346478	61346478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61346478T>C	uc001xfd.2	+	7	845	c.734T>C	c.(733-735)CTG>CCG	p.L245P	MNAT1_uc001xfe.2_Missense_Mutation_p.L203P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	245					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)									Direct_reversal_of_damage|NER					---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61442854	61442854	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61442854G>A	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61995940	61995940	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61995940A>G	uc001xfn.2	+						PRKCH_uc010tsa.1_Intron|PRKCH_uc010tsb.1_Intron	NM_006255	NP_006246			protein kinase C, eta						intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62261657	62261657	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62261657A>T	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63842769	63842769	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63842769C>T	uc001xgd.1	-	14	1952	c.1362G>A	c.(1360-1362)GAG>GAA	p.E454E	PPP2R5E_uc010tsf.1_Silent_p.E378E|PPP2R5E_uc010tsg.1_Silent_p.E378E|PPP2R5E_uc001xge.2_Silent_p.E454E|PPP2R5E_uc010tsh.1_Silent_p.E449E	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	454					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63881929	63881929	+	Nonsense_Mutation	SNP	G	A	A	rs10133826	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63881929G>A	uc001xgd.1	-	5	1068	c.478C>T	c.(478-480)CGA>TGA	p.R160*	PPP2R5E_uc010tsf.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc010tsg.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc001xge.2_Nonsense_Mutation_p.R160*|PPP2R5E_uc010tsh.1_Nonsense_Mutation_p.R160*|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	160					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64608200	64608200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64608200C>T	uc001xgm.2	+	81	15348	c.15118C>T	c.(15118-15120)CTC>TTC	p.L5040F	SYNE2_uc001xgl.2_Missense_Mutation_p.L5040F|SYNE2_uc010apy.2_Missense_Mutation_p.L1425F|SYNE2_uc001xgn.2_Missense_Mutation_p.L2F|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5040	Spectrin 1.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64676135	64676135	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64676135G>A	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'UTR	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64902392	64902392	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64902392A>G	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
AKAP5	9495	broad.mit.edu	37	14	64936006	64936006	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64936006G>A	uc001xhd.3	+	2	1272	c.894G>A	c.(892-894)GAG>GAA	p.E298E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	298					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)														---	---	---	---
GPX2	2877	broad.mit.edu	37	14	65406199	65406199	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65406199T>A	uc010tsn.1	-	3					CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074			glutathione peroxidase 2						response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)													---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65521297	65521297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65521297C>T	uc001xia.2	+	11	1237	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C	FNTB_uc010tsl.1_Missense_Mutation_p.R392C|FNTB_uc010tsm.1_Missense_Mutation_p.R312C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.R114C|FNTB_uc010tso.1_Missense_Mutation_p.R273C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	358	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67589003	67589003	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67589003G>T	uc001xiy.2	+	16	2679	c.1558G>T	c.(1558-1560)GGG>TGG	p.G520W	GPHN_uc001xix.2_Missense_Mutation_p.G553W|GPHN_uc010tss.1_Missense_Mutation_p.G566W|GPHN_uc010tst.1_Missense_Mutation_p.G489W|GPHN_uc010tsu.1_Missense_Mutation_p.G443W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	520	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787971	67787971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67787971A>G	uc001xjc.2	+	13	2201	c.1735A>G	c.(1735-1737)ACA>GCA	p.T579A	MPP5_uc001xjd.2_Missense_Mutation_p.T545A|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	579	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)														---	---	---	---
PLEK2	26499	broad.mit.edu	37	14	67859098	67859098	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67859098A>G	uc001xjh.1	-	6	768	c.716T>C	c.(715-717)CTG>CCG	p.L239P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	239					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)														---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68044777	68044777	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68044777C>T	uc001xjl.1	+	19	2754	c.2612C>T	c.(2611-2613)GCC>GTC	p.A871V	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A439V|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A386V|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	871	MyTH4.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GALNTL1	57452	broad.mit.edu	37	14	69795187	69795187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69795187C>T	uc010aqu.1	+	6	682	c.589C>T	c.(589-591)CGT>TGT	p.R197C	GALNTL1_uc001xla.1_Missense_Mutation_p.R197C|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)														---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70263858	70263858	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70263858G>A	uc001xlr.2	-	1	149	c.15C>T	c.(13-15)AAC>AAT	p.N5N		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	5					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)														---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70517823	70517823	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70517823G>A	uc001xly.2	-	6	2787	c.2033C>T	c.(2032-2034)ACT>ATT	p.T678I	SLC8A3_uc001xlu.2_Missense_Mutation_p.T35I|SLC8A3_uc001xlv.2_Missense_Mutation_p.T49I|SLC8A3_uc001xlw.2_Missense_Mutation_p.T675I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T676I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T672I|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.T35I	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	678	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)														---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70924308	70924308	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70924308C>A	uc001xmd.2	+	1	92	c.92C>A	c.(91-93)GCT>GAT	p.A31D		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	31					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)														---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70989594	70989594	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70989594A>G	uc001xme.2	-	2	2276	c.2031T>C	c.(2029-2031)AGT>AGC	p.S677S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	627	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71429014	71429014	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71429014G>T	uc001xmo.2	+	3	880	c.434G>T	c.(433-435)AGA>ATA	p.R145I	PCNX_uc001xmn.3_Missense_Mutation_p.R145I|PCNX_uc010are.1_Missense_Mutation_p.R145I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	145						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71435739	71435739	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71435739A>G	uc001xmo.2	+	5	962	c.516A>G	c.(514-516)GGA>GGG	p.G172G	PCNX_uc001xmn.3_Silent_p.G172G|PCNX_uc010are.1_Silent_p.G172G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	172						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444774	71444774	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71444774T>C	uc001xmo.2	+	6	2166	c.1720T>C	c.(1720-1722)TCA>CCA	p.S574P	PCNX_uc001xmn.3_Missense_Mutation_p.S574P|PCNX_uc010are.1_Missense_Mutation_p.S574P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	574						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71571997	71571997	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71571997T>C	uc001xmo.2	+	33	6587	c.6141T>C	c.(6139-6141)ATT>ATC	p.I2047I	PCNX_uc010are.1_Silent_p.I1936I|PCNX_uc010arf.1_Silent_p.I835I|PCNX_uc001xmp.2_Silent_p.I131I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2047						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72055054	72055054	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72055054G>T	uc001xms.2	+	2	813	c.465G>T	c.(463-465)ATG>ATT	p.M155I	SIPA1L1_uc001xmt.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.M155I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	155					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72152235	72152235	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72152235T>A	uc001xms.2	+	10	3609	c.3261T>A	c.(3259-3261)AGT>AGA	p.S1087R	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1087R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S562R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1087					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72936781	72936781	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72936781G>T	uc001xna.3	+	8	1049	c.526G>T	c.(526-528)GCA>TCA	p.A176S	RGS6_uc010ttn.1_Missense_Mutation_p.A176S|RGS6_uc001xmx.3_Missense_Mutation_p.A176S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.A176S|RGS6_uc010ttp.1_Missense_Mutation_p.A107S|RGS6_uc001xmz.1_Missense_Mutation_p.A37S|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	176					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)														---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73181139	73181139	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73181139A>G	uc001xnc.2	-	6	609	c.596T>C	c.(595-597)GTC>GCC	p.V199A	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V199A|DPF3_uc010ttq.1_Missense_Mutation_p.V209A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	199	C2H2-type.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73721271	73721271	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73721271G>T	uc010ttx.1	+	12	1516	c.1353G>T	c.(1351-1353)CGG>CGT	p.R451R	PAPLN_uc001xnw.3_Silent_p.R424R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.R451R	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	451	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)														---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73750839	73750839	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73750839T>C	uc001xny.1	-	10	1219	c.899A>G	c.(898-900)GAG>GGG	p.E300G	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.E300G|NUMB_uc001xnz.1_Missense_Mutation_p.E289G|NUMB_uc001xob.1_Missense_Mutation_p.E289G|NUMB_uc001xod.1_Missense_Mutation_p.E300G|NUMB_uc001xoc.1_Missense_Mutation_p.E300G|NUMB_uc010ars.1_Missense_Mutation_p.E289G|NUMB_uc001xof.1_Missense_Mutation_p.E264G|NUMB_uc010ttz.1_Missense_Mutation_p.E46G	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	300					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73945354	73945354	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73945354G>T	uc010tua.1	-	18	3307	c.2897C>A	c.(2896-2898)CCC>CAC	p.P966H	uc001xoi.1_RNA	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	74008409	74008409	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74008409T>A	uc010tua.1	-						ACOT1_uc001xol.1_Intron|ACOT1_uc010tuc.1_Intron	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74040291	74040291	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74040291C>T	uc001xon.3	+	2	1016	c.843C>T	c.(841-843)CCC>CCT	p.P281P	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Silent_p.P84P	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74128725	74128725	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74128725T>A	uc001xoq.3	+	4	353	c.188T>A	c.(187-189)ATT>AAT	p.I63N	DNAL1_uc010aru.2_Missense_Mutation_p.I24N|DNAL1_uc010arv.2_RNA	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	63	LRR 1.										0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74205679	74205679	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74205679G>A	uc001xot.2	-	2	1816	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	C14orf43_uc001xou.2_Missense_Mutation_p.R345C|C14orf43_uc010tud.1_Missense_Mutation_p.R345C|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206622	74206622	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206622A>G	uc001xot.2	-	2	873	c.90T>C	c.(88-90)CCT>CCC	p.P30P	C14orf43_uc001xou.2_Silent_p.P30P|C14orf43_uc010tud.1_Silent_p.P30P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206623	74206623	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206623G>A	uc001xot.2	-	2	872	c.89C>T	c.(88-90)CCT>CTT	p.P30L	C14orf43_uc001xou.2_Missense_Mutation_p.P30L|C14orf43_uc010tud.1_Missense_Mutation_p.P30L|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
COQ6	51004	broad.mit.edu	37	14	74416672	74416672	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74416672T>C	uc001xph.2	+						FAM161B_uc001xpd.1_Intron|COQ6_uc001xpe.2_5'UTR|COQ6_uc001xpf.2_5'UTR|COQ6_uc010tuk.1_5'UTR|COQ6_uc010tul.1_5'Flank|COQ6_uc010tum.1_5'Flank|COQ6_uc010tun.1_5'Flank|COQ6_uc001xpg.2_5'Flank	NM_182476	NP_872282			coenzyme Q6 homolog isoform a						ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)														---	---	---	---
ALDH6A1	4329	broad.mit.edu	37	14	74534085	74534085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74534085G>A	uc001xpo.2	-	8	1139	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.A192V|ALDH6A1_uc010tuq.1_Missense_Mutation_p.A334V	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	347						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)													---	---	---	---
ABCD4	5826	broad.mit.edu	37	14	74758990	74758990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74758990G>A	uc001xpr.2	-	11	1270	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	ABCD4_uc001xps.2_Missense_Mutation_p.T214I|ABCD4_uc001xpt.2_Missense_Mutation_p.T214I|ABCD4_uc010tur.1_Missense_Mutation_p.T269I|ABCD4_uc001xpu.2_Missense_Mutation_p.T110I|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	373						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)														---	---	---	---
C14orf115	55237	broad.mit.edu	37	14	74824569	74824569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74824569G>A	uc001xpw.3	+	2	1274	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	361					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)														---	---	---	---
TMEM90A	646658	broad.mit.edu	37	14	74874616	74874616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74874616G>A	uc001xpx.2	-	3	742	c.494C>T	c.(493-495)ACT>ATT	p.T165I		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	165	Helical; (Potential).				response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74975558	74975558	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74975558C>T	uc001xqa.2	-	23	3888	c.3501G>A	c.(3499-3501)CAG>CAA	p.Q1167Q		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1167	EGF-like 11; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75019682	75019682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75019682A>G	uc001xqa.2	-	5	1492	c.1105T>C	c.(1105-1107)TGT>CGT	p.C369R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	369					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75078162	75078162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75078162C>T	uc001xqa.2	-	1	873	c.486G>A	c.(484-486)CGG>CGA	p.R162R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	162					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75264547	75264547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75264547G>A	uc001xqj.3	+	5	2671	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---
PGF	5228	broad.mit.edu	37	14	75413078	75413078	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75413078T>C	uc001xqz.2	-						PGF_uc001xra.2_Intron|PGF_uc001xrb.2_Intron	NM_002632	NP_002623			placental growth factor, vascular endothelial						angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00668)												OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513923	75513923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75513923A>G	uc001xrd.1	-	2	2652	c.2436T>C	c.(2434-2436)AGT>AGC	p.S812S	MLH3_uc001xre.1_Silent_p.S812S|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	812					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76107378	76107378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76107378C>T	uc001xrs.2	+	7	1692	c.1316C>T	c.(1315-1317)TCC>TTC	p.S439F	FLVCR2_uc010tvd.1_Missense_Mutation_p.S234F	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	439	Helical; (Potential).			S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76429788	76429788	+	Missense_Mutation	SNP	C	T	T	rs142069844		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76429788C>T	uc001xsc.2	-	5	1653	c.797G>A	c.(796-798)CGC>CAC	p.R266H	TGFB3_uc001xsd.2_Missense_Mutation_p.R264H	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	266					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76437504	76437504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76437504A>T	uc001xsc.2	-	3	1467	c.611T>A	c.(610-612)GTC>GAC	p.V204D	TGFB3_uc001xsd.2_Missense_Mutation_p.V202D	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	204					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77273842	77273842	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77273842G>T	uc001xsv.2	-	4	993	c.880C>A	c.(880-882)CTG>ATG	p.L294M	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	294										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)														---	---	---	---
C14orf4	64207	broad.mit.edu	37	14	77492964	77492964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77492964C>T	uc001xsy.2	-	1	2071	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	391						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)														---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77715740	77715740	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77715740G>T	uc001xtf.2	+	21	2189	c.1977G>T	c.(1975-1977)CAG>CAT	p.Q659H	TMEM63C_uc010asq.1_Missense_Mutation_p.Q659H	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	659	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)														---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77794333	77794333	+	Missense_Mutation	SNP	G	A	A	rs140540096	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77794333G>A	uc001xtj.2	+	5	577	c.295G>A	c.(295-297)GTG>ATG	p.V99M	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.V44M|GSTZ1_uc001xtm.2_Missense_Mutation_p.V44M	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	99	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77797487	77797487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77797487G>T	uc001xtj.2	+	9	882	c.600G>T	c.(598-600)CAG>CAT	p.Q200H	GSTZ1_uc001xtk.2_Missense_Mutation_p.Q158H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q145H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q145H	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	200	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77942198	77942198	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77942198T>C	uc001xtz.2	-	7	1530	c.1456A>G	c.(1456-1458)ACA>GCA	p.T486A	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.T398A|ISM2_uc010tvl.1_Missense_Mutation_p.T405A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	486	AMOP.					extracellular region				skin(1)	1																		---	---	---	---
ADCK1	57143	broad.mit.edu	37	14	78285417	78285417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78285417T>C	uc001xui.2	+	2	195	c.96T>C	c.(94-96)AAT>AAC	p.N32N	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.N32N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	32						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)														---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80677662	80677662	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80677662G>A	uc010tvq.1	-	2	556	c.154C>T	c.(154-156)CGG>TGG	p.R52W	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52W|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52W|DIO2_uc010tvr.1_Missense_Mutation_p.R52W|DIO2_uc010asy.2_Missense_Mutation_p.R52W	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	52					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)														---	---	---	---
C14orf145	145508	broad.mit.edu	37	14	81259148	81259148	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81259148T>A	uc001xux.2	-	13	1687	c.1516A>T	c.(1516-1518)AAA>TAA	p.K506*	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	506	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81574744	81574744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81574744A>G	uc001xvd.1	+	8	796	c.640A>G	c.(640-642)ACA>GCA	p.T214A	TSHR_uc001xvb.1_Missense_Mutation_p.T214A|TSHR_uc001xvc.2_Missense_Mutation_p.T214A|TSHR_uc010tvs.1_Missense_Mutation_p.T214A	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	214	Extracellular (Potential).|LRR 5.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81662516	81662516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81662516A>G	uc001xvf.1	-	6	980	c.548T>C	c.(547-549)GTT>GCT	p.V183A	GTF2A1_uc010atb.1_Missense_Mutation_p.V133A|GTF2A1_uc001xvg.1_Missense_Mutation_p.V144A	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	183					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81943446	81943446	+	Missense_Mutation	SNP	G	A	A	rs141918133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81993276	81993276	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81993276G>A	uc010tvv.1	-	3	258	c.141C>T	c.(139-141)GAC>GAT	p.D47D	SEL1L_uc001xvo.3_Silent_p.D47D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	47	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088684	86088684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088684C>T	uc001xvr.2	+	2	1593	c.826C>T	c.(826-828)CGT>TGT	p.R276C	FLRT2_uc010atd.2_Missense_Mutation_p.R276C	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	276	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089822	86089822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86089822T>C	uc001xvr.2	+	2	2731	c.1964T>C	c.(1963-1965)CTG>CCG	p.L655P	FLRT2_uc010atd.2_Missense_Mutation_p.L655P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	655	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
EML5	161436	broad.mit.edu	37	14	89123818	89123818	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89123818A>G	uc001xxg.2	-	28	4092	c.3906T>C	c.(3904-3906)AAT>AAC	p.N1302N	EML5_uc001xxf.2_Silent_p.N97N|EML5_uc001xxh.1_Silent_p.N441N	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1302						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89171305	89171305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89171305T>C	uc001xxg.2	-	14	2136	c.1950A>G	c.(1948-1950)CTA>CTG	p.L650L	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	650						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89206880	89206880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89206880G>A	uc001xxg.2	-	6	748	c.562C>T	c.(562-564)CGA>TGA	p.R188*		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	188						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89338740	89338740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89338740G>A	uc010ath.2	+	13	1473	c.1339G>A	c.(1339-1341)GCC>ACC	p.A447T	TTC8_uc001xxl.2_Missense_Mutation_p.A192T|TTC8_uc010ati.2_Missense_Mutation_p.A233T|TTC8_uc001xxm.2_Missense_Mutation_p.A391T|TTC8_uc010atj.2_Missense_Mutation_p.A166T|TTC8_uc001xxi.2_Missense_Mutation_p.A431T|TTC8_uc001xxj.2_Missense_Mutation_p.A421T|TTC8_uc001xxk.2_Missense_Mutation_p.A391T	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	457	TPR 8.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90442125	90442125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90442125G>A	uc001xxy.2	+	7	1056	c.757G>A	c.(757-759)GCA>ACA	p.A253T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A253T|TDP1_uc010atn.2_Missense_Mutation_p.A253T|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A253T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	253					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)									Repair_of_DNA-protein_crosslinks					---	---	---	---
PSMC1	5700	broad.mit.edu	37	14	90734649	90734649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90734649A>G	uc001xyf.2	+	8	821	c.773A>G	c.(772-774)AAG>AGG	p.K258R	PSMC1_uc001xyg.2_Missense_Mutation_p.K185R|PSMC1_uc001xyh.2_Missense_Mutation_p.K185R|PSMC1_uc010twh.1_Missense_Mutation_p.K185R	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	258					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
C14orf102	55051	broad.mit.edu	37	14	90754929	90754929	+	Silent	SNP	C	T	T	rs142936620	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90754929C>T	uc001xyi.1	-	11	2821	c.2790G>A	c.(2788-2790)GTG>GTA	p.V930V	C14orf102_uc010atp.1_Silent_p.V435V|C14orf102_uc001xyj.1_Silent_p.V699V|C14orf102_uc001xyk.1_Silent_p.V122V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	930							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91211165	91211165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91211165C>T	uc001xyp.2	-	4	669	c.547G>A	c.(547-549)GCA>ACA	p.A183T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	183							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91247091	91247091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91247091C>T	uc001xyp.2	-	3	558	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	146							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91639673	91639673	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91639673C>A	uc001xzb.2	+	8	1250	c.482C>A	c.(481-483)CCT>CAT	p.P161H	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.P166H|C14orf159_uc001xyx.2_Missense_Mutation_p.P161H|C14orf159_uc001xyw.2_Missense_Mutation_p.P166H|C14orf159_uc001xzc.2_Missense_Mutation_p.P161H|C14orf159_uc001xza.2_Missense_Mutation_p.P166H|C14orf159_uc001xyv.2_Missense_Mutation_p.P166H|C14orf159_uc001xyz.2_Missense_Mutation_p.P37H|C14orf159_uc001xze.2_Missense_Mutation_p.P161H	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	161						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)												OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91701388	91701388	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91701388T>A	uc001xzg.2	-	2	348	c.7A>T	c.(7-9)AAC>TAC	p.N3Y	GPR68_uc001xzh.2_Missense_Mutation_p.N13Y	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	3	Extracellular (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91804375	91804375	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91804375C>T	uc010aty.2	-	10	1123	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	342	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)																---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102891	92102891	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92102891G>T	uc001xzs.1	-	17	1760	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)																---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92258726	92258726	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92258726T>C	uc001xzu.3	-	9	1223	c.1032A>G	c.(1030-1032)CCA>CCG	p.P344P	TC2N_uc001xzt.3_Silent_p.P344P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.P344P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	344						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
FBLN5	10516	broad.mit.edu	37	14	92353637	92353637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92353637G>A	uc001xzx.3	-	7	1112	c.639C>T	c.(637-639)ACC>ACT	p.T213T	FBLN5_uc010aud.2_Silent_p.T218T|FBLN5_uc010aue.2_Silent_p.T254T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	213	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)																---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471782	92471782	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92471782C>T	uc001xzy.2	-	11	3326	c.2538G>A	c.(2536-2538)CAG>CAA	p.Q846Q	TRIP11_uc010auf.1_Silent_p.Q582Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	846	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
NDUFB1	4707	broad.mit.edu	37	14	92583937	92583937	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92583937A>C	uc001yaf.2	-	2	218	c.186T>G	c.(184-186)GTT>GTG	p.V62V		NM_004545	NP_004536	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	15	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)													---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93043784	93043784	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93043784C>T	uc001yap.2	+	3	481	c.329C>T	c.(328-330)GCC>GTC	p.A110V	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.A35V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154423	93154423	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154423C>T	uc001yap.2	+	10	2936	c.2784C>T	c.(2782-2784)GAC>GAT	p.D928D	RIN3_uc010auk.2_Silent_p.D590D|RIN3_uc001yaq.2_Silent_p.D853D	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	928	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154499	93154499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154499C>T	uc001yap.2	+	10	3012	c.2860C>T	c.(2860-2862)CGC>TGC	p.R954C	RIN3_uc010auk.2_Missense_Mutation_p.R616C|RIN3_uc001yaq.2_Missense_Mutation_p.R879C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	954	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93176081	93176081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93176081A>G	uc001yav.2	-	12	1282	c.956T>C	c.(955-957)CTG>CCG	p.L319P	LGMN_uc001yat.2_Missense_Mutation_p.L319P|LGMN_uc001yau.2_Missense_Mutation_p.L319P|LGMN_uc001yaw.2_Missense_Mutation_p.L319P|LGMN_uc010aul.2_Missense_Mutation_p.L200P|LGMN_uc001yax.2_Missense_Mutation_p.L319P|LGMN_uc001yay.2_Missense_Mutation_p.L319P	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	319					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93180773	93180773	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93180773A>C	uc001yav.2	-	7	754	c.428T>G	c.(427-429)ATT>AGT	p.I143S	LGMN_uc001yat.2_Missense_Mutation_p.I143S|LGMN_uc001yau.2_Missense_Mutation_p.I143S|LGMN_uc001yaw.2_Missense_Mutation_p.I143S|LGMN_uc010aul.2_Missense_Mutation_p.I24S|LGMN_uc001yax.2_Missense_Mutation_p.I143S|LGMN_uc001yay.2_Missense_Mutation_p.I143S	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	143					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)												OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650419	93650419	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93650419T>C	uc001ybj.2	-	3	539	c.169A>G	c.(169-171)AGG>GGG	p.R57G	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	57					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)														---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761249	93761249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93761249G>A	uc001ybo.2	-	3	443	c.117C>T	c.(115-117)TGC>TGT	p.C39C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Silent_p.C39C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	39										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94069685	94069685	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94069685T>C	uc001ybv.1	+	23	3227	c.3144T>C	c.(3142-3144)CGT>CGC	p.R1048R	KIAA1409_uc001ybs.1_Silent_p.R1048R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1225						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94079437	94079437	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94079437T>C	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94087327	94087327	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94087327A>G	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94420793	94420793	+	Silent	SNP	G	A	A	rs146382240	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94420793G>A	uc001ycc.1	-	2	693	c.204C>T	c.(202-204)GGC>GGT	p.G68G	ASB2_uc001ycd.2_Silent_p.G116G|ASB2_uc001yce.1_Silent_p.G14G	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	68	ANK 1.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)														---	---	---	---
IFI27L1	122509	broad.mit.edu	37	14	94568278	94568278	+	Silent	SNP	C	T	T	rs150611249	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94568278C>T	uc001ycl.2	+	4	388	c.180C>T	c.(178-180)GGC>GGT	p.G60G	IFI27L1_uc001yck.2_Silent_p.G60G	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	60	Helical; (Potential).					integral to membrane					0																		---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94780965	94780965	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94780965G>T	uc001ycv.2	-	2	125	c.21C>A	c.(19-21)ACC>ACA	p.T7T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	7					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)													---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95562437	95562437	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95562437C>T	uc001ydw.2	-	24	5002	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q	DICER1_uc010avh.1_Missense_Mutation_p.R505Q|DICER1_uc001ydv.2_Missense_Mutation_p.R1597Q|DICER1_uc001ydx.2_Missense_Mutation_p.R1607Q|DICER1_uc001ydy.1_Missense_Mutation_p.R459Q	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1607					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95690184	95690184	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95690184T>C	uc001yef.2	-	3	269	c.153A>G	c.(151-153)CCA>CCG	p.P51P		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	51	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)														---	---	---	---
C14orf49	161176	broad.mit.edu	37	14	95923565	95923565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95923565G>A	uc001yei.3	-	4	753	c.738C>T	c.(736-738)TGC>TGT	p.C246C	C14orf49_uc010avi.2_Silent_p.C246C|C14orf49_uc001yej.1_Silent_p.C246C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	246	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	96103091	96103091	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96103091A>T								GLRX5 (92036 upstream) : TCL6 (13744 downstream)																																			---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96157234	96157234	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96157234C>T	uc001yez.2	+	2	366	c.324C>T	c.(322-324)GAC>GAT	p.D108D	TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Silent_p.D108D	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	108										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)														---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96707571	96707571	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96707571C>A	uc010avm.1	+	3	1102	c.906C>A	c.(904-906)TCC>TCA	p.S302S	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.S275S|BDKRB2_uc001yfg.2_Silent_p.S302S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	302	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96761477	96761477	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96761477G>A	uc001yfi.2	-	36	5611	c.5246C>T	c.(5245-5247)ACC>ATC	p.T1749I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1749										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96798831	96798831	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96798831A>G	uc001yfi.2	-							NM_018036	NP_060506			ATG2 autophagy related 2 homolog B											ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	96998729	96998729	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96998729T>C	uc001yfq.2	+	8	879	c.669T>C	c.(667-669)ACT>ACC	p.T223T	PAPOLA_uc001yfp.2_Silent_p.T223T|PAPOLA_uc001yfr.2_Silent_p.T223T|PAPOLA_uc010twv.1_Silent_p.T223T|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	223				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97010567	97010567	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97010567C>A	uc001yfq.2	+	15	1581	c.1371C>A	c.(1369-1371)ACC>ACA	p.T457T	PAPOLA_uc001yfr.2_Silent_p.T457T|PAPOLA_uc010twv.1_Silent_p.T457T|PAPOLA_uc010avp.2_Silent_p.T207T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	457					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99697807	99697807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99697807C>T	uc001yga.2	-	3	782	c.515G>A	c.(514-516)CGT>CAT	p.R172H	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	172						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)				T	TLX3	T-ALL								---	---	---	---
EML1	2009	broad.mit.edu	37	14	100317246	100317246	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100317246G>T	uc001ygs.2	+	2	193	c.124G>T	c.(124-126)GAG>TAG	p.E42*	EML1_uc010avt.1_Nonsense_Mutation_p.E29*|EML1_uc010tww.1_Nonsense_Mutation_p.E11*|EML1_uc001ygq.2_Nonsense_Mutation_p.E42*|EML1_uc001ygr.2_Nonsense_Mutation_p.E42*	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	42						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100363529	100363529	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100363529C>T	uc001ygs.2	+	7	794	c.725C>T	c.(724-726)CCG>CTG	p.P242L	EML1_uc010avt.1_Missense_Mutation_p.P229L|EML1_uc010tww.1_Missense_Mutation_p.P230L|EML1_uc001ygq.2_Missense_Mutation_p.P261L|EML1_uc001ygr.2_Missense_Mutation_p.P261L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	242						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100406438	100406438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100406438C>T	uc001ygs.2	+	22	2506	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	EML1_uc010tww.1_Missense_Mutation_p.R801C|EML1_uc001ygr.2_Missense_Mutation_p.R832C	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	813	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100950346	100950346	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100950346G>T	uc010avx.2	+	4	1079	c.986G>T	c.(985-987)AGT>ATT	p.S329I	WDR25_uc001yhm.2_Missense_Mutation_p.S321I|WDR25_uc001yhn.2_Missense_Mutation_p.S329I|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.S72I	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	329	WD 2.										0		Melanoma(154;0.212)																---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101198408	101198408	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101198408G>A	uc001yhs.3	+	4	445	c.292G>A	c.(292-294)GCC>ACC	p.A98T	DLK1_uc001yhu.3_Missense_Mutation_p.A98T	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	98	Extracellular (Potential).|EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)																---	---	---	---
MIR493	574450	broad.mit.edu	37	14	101335474	101335474	+	RNA	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101335474G>C	hsa-mir-493|MI0003132	+			c.78G>C																				0																		---	---	---	---
SNORD113-2	767562	broad.mit.edu	37	14	101393741	101393741	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101393741A>T	uc001yij.2	+	1		c.63A>T				NR_003230				Homo sapiens small nucleolar RNA, C/D box 113-2 (SNORD113-2), non-coding RNA.												0																		---	---	---	---
MIR487A	619555	broad.mit.edu	37	14	101518813	101518813	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101518813T>C	hsa-mir-487a|MI0002471	+			c.31T>C			uc010awe.2_5'Flank|MIR382_hsa-mir-382|MI0000790_5'Flank|uc010txo.1_5'Flank|MIR134_hsa-mir-134|MI0000474_5'Flank|MIR668_hsa-mir-668|MI0003761_5'Flank|MIR485_hsa-mir-485|MI0002469_5'Flank																	0																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102453856	102453856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102453856T>C	uc001yks.2	+	9	2769	c.2605T>C	c.(2605-2607)TAT>CAT	p.Y869H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	869	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102461592	102461592	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102461592G>A	uc001yks.2	+	15	3683	c.3519G>A	c.(3517-3519)GTG>GTA	p.V1173V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1173	Potential.|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102467600	102467600	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102467600G>T	uc001yks.2	+	20	4468	c.4304G>T	c.(4303-4305)TGG>TTG	p.W1435L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1435	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474611	102474611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102474611T>C	uc001yks.2	+	29	6078	c.5914T>C	c.(5914-5916)TCC>CCC	p.S1972P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102483497	102483497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102483497T>C	uc001yks.2	+	39	8085	c.7921T>C	c.(7921-7923)TAC>CAC	p.Y2641H	DYNC1H1_uc001ykt.1_Missense_Mutation_p.Y132H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2641	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102901049	102901049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102901049C>T	uc001ylw.1	+	9	2043	c.1895C>T	c.(1894-1896)CCC>CTC	p.P632L	TECPR2_uc010awl.2_Missense_Mutation_p.P632L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	632							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102918744	102918744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102918744G>A	uc001ylw.1	+	16	3568	c.3420G>A	c.(3418-3420)TGG>TGA	p.W1140*	TECPR2_uc010awl.2_Nonsense_Mutation_p.W1140*|TECPR2_uc010txx.1_Nonsense_Mutation_p.W303*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1140							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103452834	103452834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103452834T>C	uc001ymi.1	-	6	912	c.680A>G	c.(679-681)GAT>GGT	p.D227G		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	227	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104220399	104220399	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104220399G>A	uc001yof.1	-						PPP1R13B_uc001yog.1_Intron	NM_015316	NP_056131			apoptosis-stimulating protein of p53, 1						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104472992	104472992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104472992T>C	uc001yom.3	+	17	1919	c.1889T>C	c.(1888-1890)CTT>CCT	p.L630P	TDRD9_uc001yon.3_Missense_Mutation_p.L368P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	630					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104492062	104492062	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104492062A>G	uc001yom.3	+	26	2910	c.2880A>G	c.(2878-2880)AAA>AAG	p.K960K	TDRD9_uc001yon.3_Silent_p.K698K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	960	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104639002	104639002	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104639002C>A	uc001yos.3	+	7	1417	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	473	ATP (Potential).|Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)														---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105204736	105204736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105204736C>T	uc001ypd.2	+	3	393	c.319C>T	c.(319-321)CCA>TCA	p.P107S	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P150S|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	107					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.P150S(1)		ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105207003	105207003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105207003G>A	uc001ypd.2	+	6	616	c.542G>A	c.(541-543)CGC>CAC	p.R181H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.R224H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	181					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
AKT1	207	broad.mit.edu	37	14	105238712	105238712	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105238712T>C	uc001ypk.2	-	12	1804	c.1250A>G	c.(1249-1251)TAC>TGC	p.Y417C	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.Y417C|AKT1_uc010axa.2_Missense_Mutation_p.Y417C|AKT1_uc001ypm.2_Missense_Mutation_p.Y417C|AKT1_uc001ypn.2_Missense_Mutation_p.Y417C|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.Y355C	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	417	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)		1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105397263	105397263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105397263C>T	uc001ypu.1	+	7	1043	c.902C>T	c.(901-903)ACC>ATC	p.T301I	PLD4_uc010tyl.1_Missense_Mutation_p.T308I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	301					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		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)													---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405613	105405613	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405613G>T	uc010axc.1	-	7	16295	c.16175C>A	c.(16174-16176)CCA>CAA	p.P5392Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5292Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5392						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408953	105408953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408953G>A	uc010axc.1	-	7	12955	c.12835C>T	c.(12835-12837)CGG>TGG	p.R4279W	AHNAK2_uc001ypx.2_Missense_Mutation_p.R4179W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4279						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410623	105410623	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105410623G>T	uc010axc.1	-	7	11285	c.11165C>A	c.(11164-11166)CCC>CAC	p.P3722H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3622H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411049	105411049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411049C>T	uc010axc.1	-	7	10859	c.10739G>A	c.(10738-10740)GGC>GAC	p.G3580D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3480D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3580						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411899	105411899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411899C>T	uc010axc.1	-	7	10009	c.9889G>A	c.(9889-9891)GCC>ACC	p.A3297T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3197T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3297						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412394	105412394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105412394C>T	uc010axc.1	-	7	9514	c.9394G>A	c.(9394-9396)GCC>ACC	p.A3132T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3032T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3132						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413160	105413160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413160C>T	uc010axc.1	-	7	8748	c.8628G>A	c.(8626-8628)CAG>CAA	p.Q2876Q	AHNAK2_uc001ypx.2_Silent_p.Q2776Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2876						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413926	105413926	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413926G>A	uc010axc.1	-	7	7982	c.7862C>T	c.(7861-7863)CCG>CTG	p.P2621L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2521L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2621						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416427	105416427	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105416427G>A	uc010axc.1	-	7	5481	c.5361C>T	c.(5359-5361)CCC>CCT	p.P1787P	AHNAK2_uc001ypx.2_Silent_p.P1687P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1787						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419623	105419623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105419623T>C	uc010axc.1	-	7	2285	c.2165A>G	c.(2164-2166)GAC>GGC	p.D722G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D622G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105517541	105517541	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105517541G>T	uc001yqd.2	-	4	1832	c.933C>A	c.(931-933)GCC>GCA	p.A311A	GPR132_uc001yqc.2_Silent_p.A123A|GPR132_uc001yqe.2_Silent_p.A302A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	311	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)														---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716945	105716945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105716945C>T	uc010tyq.1	+	5	1502	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	465						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106109871	106109871	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106109871A>T	uc010tyt.1	-						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106208024	106208024	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106208024A>T	uc010tyt.1	-	3628		c.59093T>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.I126N|uc001ysf.2_Missense_Mutation_p.I126N					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106320494	106320494	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106320494T>A	uc010tyt.1	-	3601		c.56480A>T			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106321133	106321133	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106321133C>T	uc010tyt.1	-	3600		c.56018G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106518570	106518570	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106518570C>A	uc010tyt.1	-	1630		c.32867G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106622014	106622014	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106622014C>T	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106845488	106845488	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106845488C>A	uc010tyt.1	-	305		c.12226G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106926613	106926613	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106926613A>G	uc010tyt.1	-	234		c.10045T>C			uc010tyu.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107078393	107078393	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107078393C>T	uc010tyt.1	-	117		c.5897G>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107199160	107199160	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107199160G>T	uc010tyt.1	-	21		c.1538C>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283037	107283037	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283037A>G	uc010tyt.1	-	1		c.51T>C			uc001ytb.1_Missense_Mutation_p.S36P					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283070	107283070	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283070G>A	uc010tyt.1	-	1		c.18C>T			uc001ytb.1_Nonsense_Mutation_p.Q25*					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22861939	22861939	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22861939A>G	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron|TUBGCP5_uc010axz.1_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22956546	22956546	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22956546T>A	uc001yus.2	+	16	1887	c.1783T>A	c.(1783-1785)TTT>ATT	p.F595I	CYFIP1_uc001yut.2_Missense_Mutation_p.F595I|CYFIP1_uc010aya.1_Missense_Mutation_p.F623I|CYFIP1_uc001yuu.2_Missense_Mutation_p.F164I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	595					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	23000163	23000163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23000163C>T	uc001yus.2	+	30	3621	c.3517C>T	c.(3517-3519)CGT>TGT	p.R1173C	CYFIP1_uc001yut.2_Missense_Mutation_p.R1173C|CYFIP1_uc001yuu.2_Missense_Mutation_p.R742C|CYFIP1_uc001yuv.2_Missense_Mutation_p.R367C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1173					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.R1173H(1)		ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006481	23006481	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006481G>T	uc001yux.2	-	8	1436	c.823C>A	c.(823-825)CCT>ACT	p.P275T	NIPA2_uc001yuy.2_Missense_Mutation_p.P275T|NIPA2_uc001yuz.2_Missense_Mutation_p.P275T|NIPA2_uc001yva.2_Missense_Mutation_p.P256T|NIPA2_uc001yvb.2_Missense_Mutation_p.P275T|NIPA2_uc010ayb.2_Missense_Mutation_p.P256T	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	275	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006661	23006661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006661G>A	uc001yux.2	-	8	1256	c.643C>T	c.(643-645)CAT>TAT	p.H215Y	NIPA2_uc001yuy.2_Missense_Mutation_p.H215Y|NIPA2_uc001yuz.2_Missense_Mutation_p.H215Y|NIPA2_uc001yva.2_Missense_Mutation_p.H196Y|NIPA2_uc001yvb.2_Missense_Mutation_p.H215Y|NIPA2_uc010ayb.2_Missense_Mutation_p.H196Y	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	215	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931990	23931990	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931990C>T	uc001ywk.2	-	1	461	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	125	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223574	25223574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25223574C>T	uc001ywp.1	+	13	1596	c.706C>T	c.(706-708)CGT>TGT	p.R236C	SNRPN_uc001ywq.1_Missense_Mutation_p.R236C|SNRPN_uc001ywr.1_Missense_Mutation_p.R236C|SNRPN_uc001yws.1_Missense_Mutation_p.R236C|SNRPN_uc001ywt.1_Missense_Mutation_p.R236C|SNRPN_uc001ywv.1_Missense_Mutation_p.R239C|SNRPN_uc001yww.1_Missense_Mutation_p.R236C|SNRPN_uc001ywx.1_Missense_Mutation_p.R236C|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236	Repeat-rich region.|				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25232146	25232146	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25232146C>T	uc001ywz.1	+						PAR-SN_uc001yxa.1_Intron|PAR-SN_uc001yxc.2_Intron|PAR5_uc001yxd.2_RNA					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25327959	25327959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25327959C>T	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|SNORD116-16_uc001yya.2_RNA|IPW_uc001yyb.3_5'Flank|SNORD116-19_uc001yyc.2_5'Flank|uc001yyd.2_5'Flank|SNORD116-18_uc010ayk.2_5'Flank					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	25425726	25425726	+	5'Flank	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25425726A>G	uc001yyy.1	+						uc001yza.1_5'Flank|uc001yys.1_Intron|SNORD115-7_uc001yyw.1_Intron|SNORD115-7_uc001yyz.2_5'Flank					Homo sapiens clone Rt-7 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25490636	25490636	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25490636G>T	uc001zae.2	+						SNORD115-41_uc001zaj.1_RNA|SNORD115-10_uc001zak.1_5'Flank					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25514961	25514961	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25514961A>G	uc001zae.2	+						uc001zan.1_Intron|SNORD115-48_uc001zao.1_RNA					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616489	25616489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616489G>A	uc001zaq.2	-	4	841	c.841C>T	c.(841-843)CCT>TCT	p.P281S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P258S|UBE3A_uc001zas.2_Missense_Mutation_p.P278S|UBE3A_uc001zat.2_Missense_Mutation_p.P258S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	281					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616842	25616842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616842A>G	uc001zaq.2	-	4	488	c.488T>C	c.(487-489)TTG>TCG	p.L163S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L140S|UBE3A_uc001zas.2_Missense_Mutation_p.L160S|UBE3A_uc001zat.2_Missense_Mutation_p.L140S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	163					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25926195	25926195	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25926195A>G	uc010ayu.2	-	18	3625	c.3519T>C	c.(3517-3519)TTT>TTC	p.F1173F		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1173	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25966960	25966960	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25966960T>C	uc010ayu.2	-	7	1313	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	403	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25981215	25981215	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25981215A>C	uc010ayu.2	-	3	834	c.728T>G	c.(727-729)TTT>TGT	p.F243C		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27182338	27182338	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27182338A>G	uc001zbd.1	+	9	926	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	196	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28380769	28380769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28380769T>C	uc001zbj.2	-	79	12191	c.12085A>G	c.(12085-12087)ACA>GCA	p.T4029A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4029	RCC1 14.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28386919	28386919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28386919A>G	uc001zbj.2	-	77	11880	c.11774T>C	c.(11773-11775)TTT>TCT	p.F3925S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3925					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28422651	28422651	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28422651G>A	uc001zbj.2	-	60	9274	c.9168C>T	c.(9166-9168)GGC>GGT	p.G3056G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3056	RCC1 7.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28441714	28441714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28441714A>G	uc001zbj.2	-	51	8119	c.8013T>C	c.(8011-8013)GCT>GCC	p.A2671A	HERC2_uc001zbk.1_Silent_p.A206A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28463797	28463797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28463797T>A	uc001zbj.2	-	38	5972	c.5866A>T	c.(5866-5868)AAC>TAC	p.N1956Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1956					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28525254	28525254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28525254T>C	uc001zbj.2	-	5	608	c.502A>G	c.(502-504)AAA>GAA	p.K168E	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	168					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
NDNL2	56160	broad.mit.edu	37	15	29561679	29561679	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29561679C>A	uc001zco.2	-	1	339	c.231G>T	c.(229-231)GTG>GTT	p.V77V	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	77					regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)												OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30012231	30012231	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30012231T>C	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31234015	31234015	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31234015C>G	uc001zfh.1	-	16	2090	c.1992G>C	c.(1990-1992)TGG>TGC	p.W664C	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.W78C|MTMR10_uc001zfg.1_Missense_Mutation_p.W245C|MTMR10_uc010azx.1_Missense_Mutation_p.W416C|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	664							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31318334	31318334	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31318334A>G	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31354888	31354888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31354888A>G	uc001zfm.2	-	8	1045	c.917T>C	c.(916-918)CTC>CCC	p.L306P	TRPM1_uc010azy.2_Missense_Mutation_p.L213P|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	306	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31358307	31358307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31358307C>T	uc001zfm.2	-	6	824	c.696G>A	c.(694-696)AAG>AAA	p.K232K	TRPM1_uc010azy.2_Silent_p.K145K|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	232	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
KLF13	51621	broad.mit.edu	37	15	31664305	31664305	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31664305G>A	uc001zfo.2	+	2	1003	c.670G>A	c.(670-672)GAG>AAG	p.E224K		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	224					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)														---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32936006	32936006	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32936006C>T	uc001zha.2	+	2	330	c.213C>T	c.(211-213)CCC>CCT	p.P71P	SCG5_uc001zgz.2_Silent_p.P71P	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	71					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33192193	33192193	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33192193T>A	uc001zhf.3	-	10	2972	c.2972A>T	c.(2971-2973)GAT>GTT	p.D991V		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1214	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33357235	33357235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33357235C>A	uc001zhf.3	-	2	1415	c.1415G>T	c.(1414-1416)GGC>GTC	p.G472V	FMN1_uc001zhg.2_Missense_Mutation_p.G472V	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	695	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33358942	33358942	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33358942C>A	uc001zhf.3	-	1	1144	c.1144G>T	c.(1144-1146)GGC>TGC	p.G382C	FMN1_uc001zhg.2_Missense_Mutation_p.G382C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	479	Microtubule-binding (By similarity).|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33359555	33359555	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33359555A>C	uc001zhf.3	-	1	531	c.531T>G	c.(529-531)TCT>TCG	p.S177S	FMN1_uc001zhg.2_Silent_p.S177S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33895365	33895365	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33895365C>T	uc001zhi.2	+	18	2034	c.1964C>T	c.(1963-1965)GCC>GTC	p.A655V	RYR3_uc010bar.2_Missense_Mutation_p.A655V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	655	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34016387	34016387	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34016387A>G	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34140608	34140608	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34140608G>A	uc001zhi.2	+	94	13684	c.13614G>A	c.(13612-13614)TTG>TTA	p.L4538L	RYR3_uc010bar.2_Silent_p.L4533L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4538					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355236	34355236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34355236G>A	uc001zhk.1	+	3	988	c.318G>A	c.(316-318)TGG>TGA	p.W106*	CHRM5_uc001zhl.1_Nonsense_Mutation_p.W106*	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	106	Helical; Name=3; (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)													---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34537953	34537953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34537953T>C	uc001zhw.2	-	13	1929	c.1765A>G	c.(1765-1767)ACA>GCA	p.T589A	SLC12A6_uc001zhv.2_Missense_Mutation_p.T538A|SLC12A6_uc001zhx.2_Missense_Mutation_p.T574A|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.T530A|SLC12A6_uc001zib.2_Missense_Mutation_p.T580A|SLC12A6_uc001zic.2_Missense_Mutation_p.T589A|SLC12A6_uc010bau.2_Missense_Mutation_p.T589A|SLC12A6_uc001zid.2_Missense_Mutation_p.T530A|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.T401A	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	589					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)													---	---	---	---
C15orf55	256646	broad.mit.edu	37	15	34648162	34648162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34648162T>C	uc001zif.2	+	7	2024	c.1869T>C	c.(1867-1869)TGT>TGC	p.C623C	C15orf55_uc010ucc.1_Silent_p.C651C|C15orf55_uc010ucd.1_Silent_p.C641C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	623						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)				T	BRD3|BRD4	lethal midline carcinoma								---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35045359	35045359	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35045359A>T	uc001zis.1	-	2	286	c.286T>A	c.(286-288)TAC>AAC	p.Y96N	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	96	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)														---	---	---	---
AQR	9716	broad.mit.edu	37	15	35185907	35185907	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35185907T>C	uc001ziv.2	-	23	2709	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	843						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)														---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35273848	35273848	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35273848A>G	uc001ziw.2	-	3	2099	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)														---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38591565	38591565	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38591565C>G	uc001zka.3	+							NM_152594	NP_689807			sprouty-related protein 1 with EVH-1 domain						inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										Legius_syndrome				---	---	---	---
C15orf54	400360	broad.mit.edu	37	15	39544627	39544627	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39544627A>G	uc001zkg.2	+	2	659	c.291A>G	c.(289-291)CAA>CAG	p.Q97Q		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	97											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)														---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39885877	39885877	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39885877G>T	uc001zkh.2	+						THBS1_uc010bbi.2_Intron	NM_003246	NP_003237			thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)													---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40005645	40005645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40005645C>T	uc001zki.2	-	10	1406	c.1188G>A	c.(1186-1188)GTG>GTA	p.V396V		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	396										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40068628	40068628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40068628A>G	uc001zki.2	-	2	316	c.98T>C	c.(97-99)GTG>GCG	p.V33A		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	33										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40094113	40094113	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40094113A>G	uc001zkj.1	-	3	1634	c.768T>C	c.(766-768)TAT>TAC	p.Y256Y	GPR176_uc010uck.1_Silent_p.Y196Y	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	256	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)												OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40099369	40099369	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40099369A>C	uc001zkj.1	-	2	1129	c.263T>G	c.(262-264)ATT>AGT	p.I88S	GPR176_uc010uck.1_Missense_Mutation_p.I28S	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	88	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)														---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40558052	40558052	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40558052C>T	uc010bbl.2	+	5	654	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAK6_uc010bbm.2_Missense_Mutation_p.R72W|PAK6_uc001zky.3_Missense_Mutation_p.R72W|PAK6_uc010bbn.2_Missense_Mutation_p.R72W|PAK6_uc001zlb.2_Missense_Mutation_p.R72W	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	72	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)														---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40594733	40594733	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40594733G>A	uc001zld.2	-	4	610	c.309C>T	c.(307-309)TCC>TCT	p.S103S	PLCB2_uc010bbo.2_Silent_p.S103S|PLCB2_uc010ucm.1_Silent_p.S103S|PLCB2_uc001zle.3_Silent_p.S103S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	103					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)														---	---	---	---
RPUSD2	27079	broad.mit.edu	37	15	40862035	40862035	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40862035A>G	uc001zmd.1	+	1	499	c.499A>G	c.(499-501)AGT>GGT	p.S167G		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	167					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)														---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915370	40915370	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40915370A>T	uc010bbs.1	+	11	3147	c.2986A>T	c.(2986-2988)ACA>TCA	p.T996S	CASC5_uc010ucq.1_Missense_Mutation_p.T820S|CASC5_uc001zme.2_Missense_Mutation_p.T970S|CASC5_uc010bbt.1_Missense_Mutation_p.T970S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	996	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41191463	41191463	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41191463G>T	uc001zne.2	+	4	786	c.447G>T	c.(445-447)AAG>AAT	p.K149N		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	149					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192724	41192724	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41192724G>A	uc001zne.2	+	4	2047	c.1708G>A	c.(1708-1710)GTG>ATG	p.V570M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	570					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
INO80	54617	broad.mit.edu	37	15	41352087	41352087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41352087A>C	uc001zni.2	-	15	2033	c.1820T>G	c.(1819-1821)GTC>GGC	p.V607G	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	607	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41482161	41482161	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41482161A>T	uc001znk.2	-	9	1047	c.856T>A	c.(856-858)TCT>ACT	p.S286T	EXD1_uc001znj.2_Missense_Mutation_p.S84T|EXD1_uc010ucv.1_Missense_Mutation_p.S344T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	286					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41509324	41509324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41509324G>A	uc001znk.2	-	2	248	c.57C>T	c.(55-57)GGC>GGT	p.G19G	EXD1_uc010ucv.1_Silent_p.G77G	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	19					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41663789	41663789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41663789T>A	uc001zns.3	+	8	1143	c.913T>A	c.(913-915)TCT>ACT	p.S305T	NUSAP1_uc001znq.3_Missense_Mutation_p.S110T|NUSAP1_uc001znr.3_Missense_Mutation_p.S304T|NUSAP1_uc010bce.2_Missense_Mutation_p.S305T|NUSAP1_uc001znt.3_Missense_Mutation_p.S290T|NUSAP1_uc001znv.3_Missense_Mutation_p.S303T|NUSAP1_uc001znu.3_Missense_Mutation_p.S304T|NUSAP1_uc010ucw.1_Missense_Mutation_p.S281T|NUSAP1_uc001znw.3_Missense_Mutation_p.S109T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	305	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)														---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41815492	41815492	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41815492G>A	uc001zod.2	-	18	2621	c.2497C>T	c.(2497-2499)CTG>TTG	p.L833L	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	833	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42028759	42028759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42028759C>T	uc010ucy.1	+	13	4478	c.4297C>T	c.(4297-4299)CAG>TAG	p.Q1433*	MGA_uc010ucz.1_Nonsense_Mutation_p.Q1433*|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1433						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42041713	42041713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42041713A>G	uc010ucy.1	+	17	6089	c.5908A>G	c.(5908-5910)AGA>GGA	p.R1970G	MGA_uc010ucz.1_Missense_Mutation_p.R1761G|MGA_uc010uda.1_Missense_Mutation_p.R586G|MGA_uc001zoi.2_Missense_Mutation_p.R184G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1931	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42147511	42147511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42147511G>A	uc001zos.2	-	55	9562	c.9229C>T	c.(9229-9231)CGA>TGA	p.R3077*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3112	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42156099	42156099	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42156099G>T	uc001zos.2	-							NM_016642	NP_057726			spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42298290	42298290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42298290T>C	uc001zow.1	-	3	336	c.336A>G	c.(334-336)GAA>GAG	p.E112E		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	123	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)														---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42437796	42437796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42437796T>C	uc001zoz.2	-	16	1820	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Missense_Mutation_p.Y218C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.Y337C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.Y337C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.Y373C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	586	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731697	42731697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731697C>T	uc001zpw.2	-	8	4344	c.4009G>A	c.(4009-4011)GCA>ACA	p.A1337T	ZFP106_uc001zpu.2_Missense_Mutation_p.A435T|ZFP106_uc001zpv.2_Missense_Mutation_p.A522T|ZFP106_uc001zpx.2_Missense_Mutation_p.A565T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1337						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731731	42731731	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731731T>C	uc001zpw.2	-	8	4310	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	ZFP106_uc001zpu.2_Silent_p.E423E|ZFP106_uc001zpv.2_Silent_p.E510E|ZFP106_uc001zpx.2_Silent_p.E553E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1325						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43021290	43021290	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43021290G>A	uc001zql.2	-	19	2693	c.2576C>T	c.(2575-2577)CCG>CTG	p.P859L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.P185L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	859						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43026186	43026186	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43026186A>T	uc001zql.2	-	8	1434	c.1317T>A	c.(1315-1317)AAT>AAA	p.N439K	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	439						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43367236	43367236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43367236A>G	uc001zqq.2	-	4	535	c.469T>C	c.(469-471)TGG>CGG	p.W157R	UBR1_uc010udk.1_Missense_Mutation_p.W157R	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	157	UBR-type.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43500968	43500968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43500968G>A	uc001zra.3	-	7	1138	c.838C>T	c.(838-840)CGA>TGA	p.R280*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.R125*|EPB42_uc001zrb.3_Nonsense_Mutation_p.R310*|EPB42_uc010udm.1_Nonsense_Mutation_p.R202*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43622496	43622496	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43622496C>T	uc001zrg.2	-	1	396	c.192G>A	c.(190-192)AGG>AGA	p.R64R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	64					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)													---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43701152	43701152	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43701152T>C	uc001zrs.2	-	26	5676	c.5528A>G	c.(5527-5529)TAC>TGC	p.Y1843C	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1841C|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1846C|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1848C|TP53BP1_uc001zrp.2_Missense_Mutation_p.Y260C	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1843	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714210	43714210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43714210A>G	uc001zrs.2	-	19	4076	c.3928T>C	c.(3928-3930)TCC>CCC	p.S1310P	TP53BP1_uc010udp.1_Missense_Mutation_p.S1310P|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1315P|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1315P|TP53BP1_uc010udq.1_Missense_Mutation_p.S1315P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1310					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43733752	43733752	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43733752A>T	uc001zrs.2	-	15	3203	c.3055T>A	c.(3055-3057)TCT>ACT	p.S1019T	TP53BP1_uc010udp.1_Missense_Mutation_p.S1019T|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1024T|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1024T|TP53BP1_uc010udq.1_Missense_Mutation_p.S1024T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1019					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817621	43817621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43817621T>C	uc001zrt.2	+	4	4417	c.3950T>C	c.(3949-3951)CTG>CCG	p.L1317P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1317						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)													---	---	---	---
STRC	161497	broad.mit.edu	37	15	43892737	43892737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43892737A>G	uc001zsf.2	-	26	5066	c.4988T>C	c.(4987-4989)ATA>ACA	p.I1663T	STRC_uc010bdl.2_Missense_Mutation_p.I890T|STRC_uc001zse.2_Missense_Mutation_p.I181T	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1663					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	T	T	rs140242525		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CKMT1A	548596	broad.mit.edu	37	15	43991208	43991208	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43991208A>G	uc001zsn.2	+	10	1567	c.1175A>G	c.(1174-1176)TAT>TGT	p.Y392C	CKMT1A_uc010uea.1_Missense_Mutation_p.Y423C|CKMT1A_uc001zso.3_Missense_Mutation_p.Y392C	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	392	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)													---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44877948	44877948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44877948A>G	uc001ztx.2	-	29	5038	c.5007T>C	c.(5005-5007)CTT>CTC	p.L1669L	SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Silent_p.L1669L|SPG11_uc010uei.1_Silent_p.L1669L|SPG11_uc001zty.1_Silent_p.L398L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1669	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45398417	45398417	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45398417A>G	uc010bea.2	-	17	2257	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	DUOX2_uc001zun.2_Missense_Mutation_p.V685A	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	685	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)														---	---	---	---
DUOXA1	90527	broad.mit.edu	37	15	45415136	45415136	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45415136C>A	uc001zuq.1	-	1	106	c.77G>T	c.(76-78)AGC>ATC	p.S26I	DUOXA1_uc010uem.1_Missense_Mutation_p.S26I|DUOXA1_uc001zup.2_Missense_Mutation_p.S26I|DUOXA1_uc010bec.2_Missense_Mutation_p.S26I|DUOXA1_uc001zur.1_Missense_Mutation_p.S26I|DUOXA1_uc010bed.1_Missense_Mutation_p.S26I	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	26	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)														---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45445594	45445594	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45445594C>T	uc001zus.1	+	27	3787	c.3441C>T	c.(3439-3441)GGC>GGT	p.G1147G	DUOX1_uc001zut.1_Silent_p.G1147G|DUOX1_uc010bee.1_Silent_p.G527G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1147	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---
SQRDL	58472	broad.mit.edu	37	15	45974673	45974673	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45974673T>C	uc001zvt.2	+						SQRDL_uc001zvu.2_Intron|SQRDL_uc001zvv.2_Intron	NM_021199	NP_067022			sulfide dehydrogenase like precursor								oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48060784	48060784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48060784A>G	uc010bek.2	+	18	2132	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.E591G|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Missense_Mutation_p.E572G|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	591	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063628	48063628	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063628T>G	uc010bek.2	+	19	3228	c.2868T>G	c.(2866-2868)ACT>ACG	p.T956T	SEMA6D_uc001zvw.2_Silent_p.T894T|SEMA6D_uc001zvy.2_Silent_p.T956T|SEMA6D_uc001zvz.2_Silent_p.T900T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.T894T|SEMA6D_uc001zwc.2_Silent_p.T881T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	956	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063661	48063661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063661T>A	uc010bek.2	+	19	3261	c.2901T>A	c.(2899-2901)AAT>AAA	p.N967K	SEMA6D_uc001zvw.2_Missense_Mutation_p.N905K|SEMA6D_uc001zvy.2_Missense_Mutation_p.N967K|SEMA6D_uc001zvz.2_Missense_Mutation_p.N911K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N905K|SEMA6D_uc001zwc.2_Missense_Mutation_p.N892K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	967	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063820	48063820	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063820T>C	uc010bek.2	+	19	3420	c.3060T>C	c.(3058-3060)CAT>CAC	p.H1020H	SEMA6D_uc001zvw.2_Silent_p.H958H|SEMA6D_uc001zvy.2_Silent_p.H1020H|SEMA6D_uc001zvz.2_Silent_p.H964H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.H958H|SEMA6D_uc001zwc.2_Silent_p.H945H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1020	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48435261	48435261	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48435261T>G	uc001zwi.3	-	17	1771	c.1647A>C	c.(1645-1647)GTA>GTC	p.V549V	MYEF2_uc001zwg.3_Silent_p.V87V|MYEF2_uc001zwh.3_Silent_p.V137V|MYEF2_uc001zwj.3_Silent_p.V525V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	549	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48451831	48451831	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48451831A>G	uc001zwi.3	-	6	820	c.696T>C	c.(694-696)GGT>GGC	p.G232G	MYEF2_uc001zwj.3_Silent_p.G232G|MYEF2_uc001zwl.2_Silent_p.G72G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	232					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
DUT	1854	broad.mit.edu	37	15	48626625	48626625	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48626625A>G	uc001zws.2	+	3	523	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	DUT_uc001zwt.2_Missense_Mutation_p.Y33C|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Missense_Mutation_p.Y56C|DUT_uc001zww.2_Missense_Mutation_p.Y56C|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	144					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)									Modulation_of_nucleotide_pools					---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717623	48717623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48717623A>G	uc001zwx.1	-	60	7724	c.7396T>C	c.(7396-7398)TAC>CAC	p.Y2466H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2466	EGF-like 42; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48796050	48796050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48796050A>G	uc001zwx.1	-	17	2375	c.2047T>C	c.(2047-2049)TGC>CGC	p.C683R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	683	TB 3.		C -> R (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48829959	48829959	+	Silent	SNP	G	A	A	rs1803584		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48829959G>A	uc001zwx.1	-	7	913	c.585C>T	c.(583-585)TGC>TGT	p.C195C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	195	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936859	48936859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936859T>C	uc001zwx.1	-	2	436	c.108A>G	c.(106-108)GAA>GAG	p.E36E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	36					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936889	48936889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936889G>A	uc001zwx.1	-	2	406	c.78C>T	c.(76-78)GAC>GAT	p.D26D		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	26					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49081124	49081124	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49081124A>G	uc001zwy.2	-	9	1081	c.1047T>C	c.(1045-1047)TCT>TCC	p.S349S	CEP152_uc001zwz.2_Silent_p.S349S|CEP152_uc001zxa.1_Silent_p.S256S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	349	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49089787	49089787	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49089787A>G	uc001zwy.2	-						CEP152_uc001zwz.2_Intron|CEP152_uc001zxa.1_Intron	NM_014985	NP_055800			centrosomal protein 152kDa						centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49135610	49135610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49135610G>A	uc001zxb.1	-	10	1908	c.1479C>T	c.(1477-1479)TGC>TGT	p.C493C	SHC4_uc010uey.1_Silent_p.C250C|SHC4_uc010uez.1_Silent_p.C207C	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	493	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49176493	49176493	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49176493C>T	uc001zxb.1	-	4	1221	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	264	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49292172	49292172	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49292172T>G	uc001zxe.1	-	16	2395	c.2261A>C	c.(2260-2262)GAG>GCG	p.E754A	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E709A|SECISBP2L_uc010bep.1_Missense_Mutation_p.E516A	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	754										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49325281	49325281	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49325281T>C	uc001zxe.1	-	4	679	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q182R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.Q182R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	182										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49327526	49327526	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49327526C>T	uc001zxe.1	-						SECISBP2L_uc001zxd.1_Intron|SECISBP2L_uc010bep.1_Intron|SECISBP2L_uc010beq.1_Intron	NM_014701	NP_055516			SECIS binding protein 2-like											breast(1)|skin(1)	2																		---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49509474	49509474	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49509474A>T	uc001zxj.1	+	3	328	c.230A>T	c.(229-231)TAC>TTC	p.Y77F	GALK2_uc001zxi.1_Missense_Mutation_p.Y66F|GALK2_uc010ufb.1_Missense_Mutation_p.Y53F|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.Y53F	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	77					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---
DTWD1	56986	broad.mit.edu	37	15	49926794	49926794	+	Missense_Mutation	SNP	A	G	G	rs35574741		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49926794A>G	uc001zxq.2	+	5	747	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	DTWD1_uc001zxs.2_Missense_Mutation_p.Q157R|DTWD1_uc001zxr.2_Missense_Mutation_p.Q70R|DTWD1_uc001zxo.2_Missense_Mutation_p.Q157R	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	157											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)														---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50264895	50264895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50264895G>A	uc001zxu.2	-	13	1269	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	ATP8B4_uc010ber.2_Missense_Mutation_p.T249M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T249M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	376	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---
HDC	3067	broad.mit.edu	37	15	50535355	50535355	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50535355C>T	uc001zxz.2	-	11	1333	c.1227G>A	c.(1225-1227)GTG>GTA	p.V409V	HDC_uc001zxy.2_Silent_p.V152V|HDC_uc010uff.1_Silent_p.V376V	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	409					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)													---	---	---	---
USP8	9101	broad.mit.edu	37	15	50769071	50769071	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50769071A>G	uc001zym.3	+	10	1375	c.875A>G	c.(874-876)AAT>AGT	p.N292S	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.N292S|USP8_uc001zyn.3_Missense_Mutation_p.N292S|USP8_uc010ufh.1_Missense_Mutation_p.N215S|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	292	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50886647	50886647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50886647C>T	uc001zyt.3	-	24	3718	c.3454G>A	c.(3454-3456)GAT>AAT	p.D1152N	TRPM7_uc010bew.1_Missense_Mutation_p.D1152N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1152	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)														---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51285692	51285692	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51285692A>T	uc001zyx.1	+	17	2246	c.2216A>T	c.(2215-2217)GAG>GTG	p.E739V		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	739					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)														---	---	---	---
TNFAIP8L3	388121	broad.mit.edu	37	15	51350349	51350349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51350349G>A	uc001zyy.2	-	3	708	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	203											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51634204	51634204	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51634204G>A	uc002aba.2	+	1	492	c.323G>A	c.(322-324)AGC>AAC	p.S108N	GLDN_uc010bez.1_Missense_Mutation_p.S108N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	108	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51689758	51689758	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51689758C>T	uc002aba.2	+	6	949	c.780C>T	c.(778-780)GGC>GGT	p.G260G	GLDN_uc002abb.2_Silent_p.G136G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	260	Extracellular (Potential).|Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51748351	51748351	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51748351T>A	uc002abf.2	-	38	8597	c.8372A>T	c.(8371-8373)GAA>GTA	p.E2791V	DMXL2_uc002abd.2_Missense_Mutation_p.E883V|DMXL2_uc010ufy.1_Missense_Mutation_p.E2792V|DMXL2_uc010bfa.2_Missense_Mutation_p.E2155V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2791	WD 11.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828742	51828742	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51828742T>A	uc002abf.2	-	12	2160	c.1935A>T	c.(1933-1935)AGA>AGT	p.R645S	DMXL2_uc010ufy.1_Missense_Mutation_p.R645S|DMXL2_uc010bfa.2_Missense_Mutation_p.R645S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	645						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51980445	51980445	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51980445C>T	uc002abh.2	+						SCG3_uc010ufz.1_Intron	NM_013243	NP_037375			secretogranin III isoform 1 precursor						platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)														---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52263944	52263944	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52263944A>G	uc002abo.2	-	1					LEO1_uc010bfd.2_5'UTR	NM_138792	NP_620147			Leo1, Paf1/RNA polymerase II complex component,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)														---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52339143	52339143	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52339143G>A	uc002abp.2	+	2	1280	c.486G>A	c.(484-486)ACG>ACA	p.T162T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	162	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52503982	52503982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52503982T>C	uc010bff.2	-	35	4378	c.4241A>G	c.(4240-4242)AAC>AGC	p.N1414S	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1414						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564895	52564895	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564895C>T	uc010bff.2	-	6	769	c.632G>A	c.(631-633)CGC>CAC	p.R211H	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Missense_Mutation_p.R174H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	211	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52680091	52680091	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52680091C>A	uc002aby.2	-	14	1931	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*	MYO5A_uc002abx.3_Nonsense_Mutation_p.G563*|MYO5A_uc010uge.1_Nonsense_Mutation_p.G432*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	563	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52689518	52689518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52689518C>T	uc002aby.2	-	10	1443	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	MYO5A_uc002abx.3_Missense_Mutation_p.R400H|MYO5A_uc010uge.1_Missense_Mutation_p.R269H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	400	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
ARPP19	10776	broad.mit.edu	37	15	52849361	52849361	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52849361C>T	uc002acd.1	-	2	228	c.104G>A	c.(103-105)AGA>AAA	p.R35K	ARPP19_uc002ace.1_Missense_Mutation_p.R35K	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	35					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0																		---	---	---	---
KIAA1370	56204	broad.mit.edu	37	15	52902186	52902186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52902186C>T	uc002acg.3	-	6	1078	c.925G>A	c.(925-927)GAC>AAC	p.D309N	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D221N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D316N	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	309											0				all cancers(107;0.0803)														---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081207	53081207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53081207A>G	uc002aci.1	-	1	1003	c.875T>C	c.(874-876)ATC>ACC	p.I292T		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307698	54307698	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307698T>C	uc002ack.2	+	1	2598	c.2598T>C	c.(2596-2598)GAT>GAC	p.D866D		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	866					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307737	54307737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307737T>C	uc002ack.2	+	1	2637	c.2637T>C	c.(2635-2637)GTT>GTC	p.V879V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	879					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55516108	55516108	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55516108A>G	uc002aco.2	-	6	679	c.446T>C	c.(445-447)ATA>ACA	p.I149T	RAB27A_uc002acr.2_Missense_Mutation_p.I149T|RAB27A_uc002acp.2_Missense_Mutation_p.I149T|RAB27A_uc002acq.2_Missense_Mutation_p.I149T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	149					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55522617	55522617	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55522617T>A	uc002aco.2	-	4	454	c.221A>T	c.(220-222)GAC>GTC	p.D74V	RAB27A_uc002acr.2_Missense_Mutation_p.D74V|RAB27A_uc002acp.2_Missense_Mutation_p.D74V|RAB27A_uc002acq.2_Missense_Mutation_p.D74V	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	74	GTP (By similarity).				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55652398	55652398	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55652398A>T	uc002acv.1	-	8	1738	c.1573T>A	c.(1573-1575)TTC>ATC	p.F525I	CCPG1_uc002acy.2_Missense_Mutation_p.F525I|CCPG1_uc002acu.1_Missense_Mutation_p.F381I|CCPG1_uc002acw.1_Missense_Mutation_p.F250I|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.F525I|CCPG1_uc002acz.1_Missense_Mutation_p.F525I	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	525	Lumenal (Potential).|Potential.				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)														---	---	---	---
MIR628	693213	broad.mit.edu	37	15	55665215	55665215	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55665215A>G	hsa-mir-628|MI0003642	-			c.18A>G			CCPG1_uc002acy.2_Intron|CCPG1_uc002acu.1_5'Flank|CCPG1_uc002acw.1_Intron|CCPG1_uc002acv.1_Intron|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Intron|CCPG1_uc002acz.1_Intron																	0																		---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838265	55838265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55838265T>C	uc010bfl.1	-	3	1272	c.1216A>G	c.(1216-1218)ACT>GCT	p.T406A	PYGO1_uc002adf.1_Missense_Mutation_p.T406A	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	406					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55971497	55971497	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55971497T>G	uc002adg.2	-	7	1168	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	374	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56140591	56140591	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56140591C>T	uc002adj.2	-	13	3078	c.2778G>A	c.(2776-2778)GAG>GAA	p.E926E	NEDD4_uc002adl.2_Silent_p.E507E|NEDD4_uc002adi.2_Silent_p.E854E|NEDD4_uc010ugj.1_Silent_p.E910E|NEDD4_uc010bfm.2_Silent_p.E909E|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	926	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)														---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56388470	56388470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56388470T>C	uc010bfn.2	-	9	1456	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.N300D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	389					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
TEX9	374618	broad.mit.edu	37	15	56719831	56719831	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56719831T>A	uc002adp.2	+	11	997	c.992T>A	c.(991-993)ATT>AAT	p.I331N	TEX9_uc010ugl.1_Missense_Mutation_p.I256N	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	331	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)														---	---	---	---
GCOM1	145781	broad.mit.edu	37	15	57925827	57925827	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57925827T>A	uc002aei.2	+	8	940	c.821T>A	c.(820-822)TTT>TAT	p.F274Y	GCOM1_uc002aej.2_Missense_Mutation_p.F274Y|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.F274Y|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.F274Y|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	274	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59139679	59139679	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59139679T>C	uc002afj.2	+						FAM63B_uc002afi.2_Intron|FAM63B_uc002afk.2_Intron|FAM63B_uc002afl.2_Intron	NM_001040450	NP_001035540			hypothetical protein LOC54629 isoform a											central_nervous_system(1)	1																		---	---	---	---
LDHAL6B	92483	broad.mit.edu	37	15	59499212	59499212	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59499212G>T	uc002agb.2	+	1	171	c.73G>T	c.(73-75)GGG>TGG	p.G25W	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	25					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)													---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59500995	59500995	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59500995G>A	uc002aga.2	-	14	1787	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	472	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)														---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59752285	59752285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59752285T>C	uc002agc.2	+	3	361	c.174T>C	c.(172-174)ATT>ATC	p.I58I	FAM81A_uc010uha.1_Silent_p.I58I	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	58										ovary(1)	1																		---	---	---	---
NARG2	79664	broad.mit.edu	37	15	60741267	60741267	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60741267T>G	uc002agp.2	-	10	2134	c.1899A>C	c.(1897-1899)AAA>AAC	p.K633N	NARG2_uc002ago.2_Missense_Mutation_p.K496N|NARG2_uc002agq.3_Missense_Mutation_p.K301N	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	633						nucleus				ovary(1)|lung(1)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62155653	62155653	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62155653A>G	uc002agz.2	-	82	11012	c.10938T>C	c.(10936-10938)CTT>CTC	p.L3646L	VPS13C_uc002aha.2_Silent_p.L3603L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3646					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62208153	62208153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62208153A>G	uc002agz.2	-	61	8198	c.8124T>C	c.(8122-8124)GGT>GGC	p.G2708G	VPS13C_uc002aha.2_Silent_p.G2665G|VPS13C_uc002ahb.1_Silent_p.G2708G|VPS13C_uc002ahc.1_Silent_p.G2665G|VPS13C_uc002ahd.1_Silent_p.G85G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2708					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62210431	62210431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62210431A>G	uc002agz.2	-	59	7738	c.7664T>C	c.(7663-7665)TTT>TCT	p.F2555S	VPS13C_uc002aha.2_Missense_Mutation_p.F2512S|VPS13C_uc002ahb.1_Missense_Mutation_p.F2555S|VPS13C_uc002ahc.1_Missense_Mutation_p.F2512S|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2555					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62251774	62251774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62251774A>G	uc002agz.2	-	36	4003	c.3929T>C	c.(3928-3930)ATC>ACC	p.I1310T	VPS13C_uc002aha.2_Missense_Mutation_p.I1267T|VPS13C_uc002ahb.1_Missense_Mutation_p.I1310T|VPS13C_uc002ahc.1_Missense_Mutation_p.I1267T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1310					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62253854	62253854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62253854T>C	uc002agz.2	-	35	3916	c.3842A>G	c.(3841-3843)GAA>GGA	p.E1281G	VPS13C_uc002aha.2_Missense_Mutation_p.E1238G|VPS13C_uc002ahb.1_Missense_Mutation_p.E1281G|VPS13C_uc002ahc.1_Missense_Mutation_p.E1238G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1281					protein localization					ovary(2)	2																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945511	62945511	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945511A>T	uc002alb.3	+	4	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	172	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63031735	63031735	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63031735C>T	uc002alb.3	+	28	3876	c.3876C>T	c.(3874-3876)GGC>GGT	p.G1292G	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1292					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
USP3	9960	broad.mit.edu	37	15	63862713	63862713	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63862713C>T	uc002amf.2	+	9	972	c.843C>T	c.(841-843)AAC>AAT	p.N281N	USP3_uc010uii.1_RNA|USP3_uc002amg.2_Silent_p.N196N|USP3_uc002amh.2_Silent_p.N259N|USP3_uc010uij.1_Silent_p.N237N|USP3_uc010uik.1_Silent_p.N32N|USP3_uc010bgs.2_Silent_p.N264N|USP3_uc002ami.2_Silent_p.N112N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	281					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63904619	63904619	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63904619T>C	uc002amp.2	-	77	14379	c.14231A>G	c.(14230-14232)TAC>TGC	p.Y4744C	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4744	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63937702	63937702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63937702C>T	uc002amp.2	-	56	11206	c.11058G>A	c.(11056-11058)AAG>AAA	p.K3686K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3686	WD 9.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63950833	63950833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63950833C>T	uc002amp.2	-	48	9657	c.9509G>A	c.(9508-9510)CGT>CAT	p.R3170H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3170					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64011049	64011049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64011049A>G	uc002amp.2	-	20	3938	c.3790T>C	c.(3790-3792)TCT>CCT	p.S1264P	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1264					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64915123	64915123	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64915123T>C	uc002ann.2	+	2	845	c.845T>C	c.(844-846)GTT>GCT	p.V282A		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	282						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973005	64973005	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64973005A>G	uc002ann.2	+	7	4106	c.4106A>G	c.(4105-4107)CAC>CGC	p.H1369R		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1369	Poly-His.					nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65041207	65041207	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65041207C>T	uc002anq.2	-	5	662	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	137							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65111388	65111388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65111388G>A	uc002ant.2	-	9	1434	c.1368C>T	c.(1366-1368)AAC>AAT	p.N456N	PIF1_uc002anr.2_Silent_p.N4N|PIF1_uc002ans.2_Silent_p.N147N|PIF1_uc010uiq.1_Silent_p.N456N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	456	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65112130	65112130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65112130G>A	uc002ant.2	-	8	1315	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Nonsense_Mutation_p.R108*|PIF1_uc010uiq.1_Nonsense_Mutation_p.R417*	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	417	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
MTFMT	123263	broad.mit.edu	37	15	65308852	65308852	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65308852A>G	uc002aof.3	-	6	761	c.735T>C	c.(733-735)TCT>TCC	p.S245S		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	245						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)													---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65746615	65746615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65746615A>G	uc002aov.2	-	17	3883	c.2305T>C	c.(2305-2307)TCA>CCA	p.S769P	DPP8_uc002aow.2_Missense_Mutation_p.S769P|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.S753P|DPP8_uc002aoy.2_Intron|DPP8_uc002aoz.2_Intron|DPP8_uc010bhj.2_Missense_Mutation_p.S769P|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.S72P|DPP8_uc010bhk.1_Missense_Mutation_p.S338P	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	769					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65956734	65956734	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65956734T>C	uc002aph.2	-	31	5769	c.5391_splice	c.e31-1	p.R1797_splice	DENND4A_uc002api.2_Splice_Site_p.R1840_splice	NM_005848	NP_005839			DENN/MADD domain containing 4A isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65983416	65983416	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65983416A>G	uc002aph.2	-	22	3762	c.3384T>C	c.(3382-3384)AGT>AGC	p.S1128S	DENND4A_uc002api.2_Silent_p.S1171S|DENND4A_uc002apj.3_Silent_p.S1128S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
RAB11A	8766	broad.mit.edu	37	15	66170134	66170134	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66170134T>C	uc002apk.2	+	3	399	c.271T>C	c.(271-273)TAT>CAT	p.Y91H	RAB11A_uc010ujk.1_Missense_Mutation_p.Y91H	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	91					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67004051	67004051	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67004051A>G	uc002aqf.2	+	2	1786	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.Y27C	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	288					BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67008838	67008838	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67008838T>C	uc002aqf.2	+	3	1875	c.952_splice	c.e3+2	p.D318_splice	SMAD6_uc010bhx.2_Splice_Site|SMAD6_uc002aqg.2_Splice_Site_p.D57_splice	NM_005585	NP_005576			SMAD family member 6 isoform 1						BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67482849	67482849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67482849G>A	uc002aqj.2	+	9	1551	c.1253G>A	c.(1252-1254)AGC>AAC	p.S418N	SMAD3_uc010ujr.1_Missense_Mutation_p.S313N|SMAD3_uc010ujs.1_Missense_Mutation_p.S374N|SMAD3_uc010ujt.1_Missense_Mutation_p.S223N	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	418	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)														---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67692609	67692609	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67692609A>G	uc002aqo.1	+	14	2110	c.2063A>G	c.(2062-2064)TAT>TGT	p.Y688C	IQCH_uc002aqq.1_Missense_Mutation_p.Y345C|IQCH_uc002aqp.1_Missense_Mutation_p.Y349C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	688										skin(3)|ovary(1)	4				Colorectal(3;0.0856)														---	---	---	---
MAP2K5	5607	broad.mit.edu	37	15	67995750	67995750	+	Intron	SNP	C	T	T	rs55855141	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67995750C>T	uc002aqu.2	+						MAP2K5_uc002aqv.2_Intron|MAP2K5_uc002aqw.2_Intron|MAP2K5_uc002aqx.2_Intron	NM_145160	NP_660143			mitogen-activated protein kinase kinase 5						nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2																		---	---	---	---
LBXCOR1	390598	broad.mit.edu	37	15	68118726	68118726	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68118726G>T	uc002aqy.1	+	2	533	c.533G>T	c.(532-534)TGC>TTC	p.C178F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	187					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0																		---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68438930	68438930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68438930C>T	uc002aqz.2	+	6	816	c.720C>T	c.(718-720)GGC>GGT	p.G240G	PIAS1_uc010ujx.1_Silent_p.G240G	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	240	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68608055	68608055	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68608055C>T	uc002ari.2	-	22	2813	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	ITGA11_uc010bib.2_Missense_Mutation_p.R909H	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	909	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)													---	---	---	---
GLCE	26035	broad.mit.edu	37	15	69548299	69548299	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69548299T>C	uc002ary.1	+	3	382	c.154T>C	c.(154-156)TTT>CTT	p.F52L		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	52	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2																		---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69737152	69737152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69737152C>T	uc002asb.2	+	19	2520	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	KIF23_uc002asc.2_Silent_p.N697N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Silent_p.N514N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	801					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---
RPLP1	6176	broad.mit.edu	37	15	69747800	69747800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69747800A>G	uc002asd.1	+	4	428	c.299A>G	c.(298-300)GAA>GGA	p.E100G	RPLP1_uc002ase.1_Missense_Mutation_p.E75G	NM_001003	NP_000994	P05386	RLA1_HUMAN	ribosomal protein P1 isoform 1	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71196973	71196973	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71196973A>T	uc002asw.2	+	5	626	c.379A>T	c.(379-381)ATA>TTA	p.I127L	LRRC49_uc002asu.2_Missense_Mutation_p.I117L|LRRC49_uc002asx.2_Missense_Mutation_p.I83L|LRRC49_uc010ukf.1_Missense_Mutation_p.I132L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.I99L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	127	LRR 1.					cytoplasm|microtubule				ovary(1)	1																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72050275	72050275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72050275G>A	uc002atb.1	+	14	2529	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	THSD4_uc002ate.2_Missense_Mutation_p.R457H|THSD4_uc002atg.1_Missense_Mutation_p.R20H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	817	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72286859C>T	uc002atl.3	-	10	2011	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	MYO9A_uc010biq.2_Missense_Mutation_p.R108Q|MYO9A_uc002ato.2_Missense_Mutation_p.R513Q|MYO9A_uc002atn.1_Missense_Mutation_p.R494Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GRAMD2	196996	broad.mit.edu	37	15	72455965	72455965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72455965G>A	uc002atq.2	-	9	758	c.734C>T	c.(733-735)CCT>CTT	p.P245L	GRAMD2_uc010bis.2_Missense_Mutation_p.P245L|GRAMD2_uc010ukh.1_Missense_Mutation_p.P39L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	245						integral to membrane					0																		---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72552962	72552962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72552962C>T	uc002auc.2	-	9	1072	c.613G>A	c.(613-615)GTT>ATT	p.V205I	PARP6_uc002aua.2_Missense_Mutation_p.V70I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V205I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	205							NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72579601	72579601	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72579601G>T	uc002auh.2	-	12					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_3'UTR|CELF6_uc010ukl.1_3'UTR|CELF6_uc010ukm.1_3'UTR|CELF6_uc002aui.2_3'UTR|CELF6_uc002auj.2_3'UTR	NM_052840	NP_443072			bruno-like 6, RNA binding protein						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72580706	72580706	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72580706C>A	uc002auh.2	-	11	1571	c.1261G>T	c.(1261-1263)GCC>TCC	p.A421S	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.A308S|CELF6_uc010ukl.1_Missense_Mutation_p.A284S|CELF6_uc010ukm.1_Missense_Mutation_p.A394S|CELF6_uc002aui.2_Missense_Mutation_p.A527S|CELF6_uc002auj.2_Missense_Mutation_p.A308S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	421	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73542047	73542047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73542047C>T	uc002avm.3	+	11	2021	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NEO1_uc010ukx.1_Nonsense_Mutation_p.R627*|NEO1_uc010uky.1_Nonsense_Mutation_p.R627*|NEO1_uc010ukz.1_Nonsense_Mutation_p.R51*|NEO1_uc002avn.3_Nonsense_Mutation_p.R292*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	627	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73547093	73547093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73547093G>A	uc002avm.3	+	13	2157	c.2015G>A	c.(2014-2016)CGC>CAC	p.R672H	NEO1_uc010ukx.1_Missense_Mutation_p.R672H|NEO1_uc010uky.1_Missense_Mutation_p.R672H|NEO1_uc010ukz.1_Missense_Mutation_p.R96H|NEO1_uc002avn.3_Missense_Mutation_p.R337H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	672	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73575319	73575319	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73575319C>T	uc002avm.3	+	23	3419	c.3277C>T	c.(3277-3279)CAT>TAT	p.H1093Y	NEO1_uc010ukx.1_Missense_Mutation_p.H1082Y|NEO1_uc010uky.1_Missense_Mutation_p.H1093Y|NEO1_uc010ukz.1_Missense_Mutation_p.H506Y|NEO1_uc002avn.3_Missense_Mutation_p.H731Y	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1093	Extracellular (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73635998	73635998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73635998T>C	uc002avp.2	-	2	1931	c.937A>G	c.(937-939)AAC>GAC	p.N313D		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	313	Helical; Name=Segment S2; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
CD276	80381	broad.mit.edu	37	15	73994658	73994658	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73994658C>A	uc002avv.1	+	3	376	c.142C>A	c.(142-144)CTG>ATG	p.L48M	CD276_uc010bjd.1_Translation_Start_Site|CD276_uc002avu.1_Missense_Mutation_p.L48M|CD276_uc002avw.1_Missense_Mutation_p.L48M|CD276_uc010ulb.1_Intron|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	48	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1																		---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74427037	74427037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74427037C>T	uc002axd.2	+	4	2711	c.1942C>T	c.(1942-1944)CGT>TGT	p.R648C	ISLR2_uc002axe.2_Missense_Mutation_p.R648C|ISLR2_uc010bjg.2_Missense_Mutation_p.R648C|ISLR2_uc010bjf.2_Missense_Mutation_p.R648C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	648	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0																OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74565210	74565210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74565210T>C	uc002axo.2	+	7	1131	c.737T>C	c.(736-738)GTC>GCC	p.V246A	CCDC33_uc002axp.2_Missense_Mutation_p.V68A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	449							protein binding			ovary(3)|skin(2)	5																		---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74741564	74741564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1																		---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888103	74888103	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74888103C>A	uc002aye.2	+	9	1875	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R	ARID3B_uc002ayd.2_Missense_Mutation_p.S557R|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	558	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75117871	75117871	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75117871G>A	uc002ayt.1	+	14	1508	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	LMAN1L_uc010bke.1_Silent_p.L490L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	502	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0																		---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75646609	75646609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75646609G>A	uc002bad.2	+	7	1371	c.865G>A	c.(865-867)GCA>ACA	p.A289T	NEIL1_uc002bae.2_Missense_Mutation_p.A375T|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	289					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1													BER_DNA_glycosylases					---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75648486	75648486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75648486C>T	uc002baf.2	-	25	2978	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Nonsense_Mutation_p.W964*|MAN2C1_uc002bah.2_Nonsense_Mutation_p.W1004*|MAN2C1_uc010bkk.2_Nonsense_Mutation_p.W888*	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	987					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75969124	75969124	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75969124G>A	uc002baw.2	-	10	5829	c.5736C>T	c.(5734-5736)AGC>AGT	p.S1912S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1912	CSPG 13.|Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TSPAN3	10099	broad.mit.edu	37	15	77348527	77348527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77348527A>G	uc002bcj.2	-	2	351	c.134T>C	c.(133-135)TTT>TCT	p.F45S	TSPAN3_uc002bck.2_Missense_Mutation_p.F45S|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	45	Extracellular (Potential).					integral to membrane					0				all cancers(203;1.14e-19)														---	---	---	---
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0																		---	---	---	---
IDH3A	3419	broad.mit.edu	37	15	78452424	78452424	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78452424T>C	uc002bdd.2	+						IDH3A_uc010umt.1_Intron|IDH3A_uc010umu.1_Intron|IDH3A_uc002bde.2_Intron|IDH3A_uc010umv.1_Intron|IDH3A_uc002bdf.2_Intron|IDH3A_uc002bdg.2_5'UTR	NM_005530	NP_005521			isocitrate dehydrogenase 3 (NAD+) alpha						carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---
WDR61	80349	broad.mit.edu	37	15	78582013	78582013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78582013T>C	uc002bdn.2	-	7	586	c.510A>G	c.(508-510)GGA>GGG	p.G170G	WDR61_uc002bdo.2_Silent_p.G170G	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	170	WD 4.						protein binding			ovary(1)|skin(1)	2																		---	---	---	---
WDR61	80349	broad.mit.edu	37	15	78582045	78582045	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78582045C>A	uc002bdn.2	-	7	554	c.478G>T	c.(478-480)GGG>TGG	p.G160W	WDR61_uc002bdo.2_Missense_Mutation_p.G160W	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	160	WD 4.						protein binding			ovary(1)|skin(1)	2																		---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78732142	78732142	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78732142G>A	uc002bdr.2	+	2	187	c.25G>A	c.(25-27)GCC>ACC	p.A9T	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A9T	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	9							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78834954	78834954	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78834954T>C	uc002bdu.3	+	4	334	c.176T>C	c.(175-177)GTC>GCC	p.V59A	PSMA4_uc010blf.2_Missense_Mutation_p.V59A|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Missense_Mutation_p.V35A|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78837210	78837210	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78837210G>T	uc002bdu.3	+	6	446	c.288_splice	c.e6-1	p.R96_splice	PSMA4_uc010blf.2_Splice_Site_p.R96_splice|PSMA4_uc002bdv.3_Splice_Site_p.R25_splice|PSMA4_uc002bdw.3_Splice_Site_p.R72_splice|PSMA4_uc002bdx.3_Splice_Site_p.R25_splice	NM_002789	NP_002780			proteasome alpha 4 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78841185	78841185	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78841185A>G	uc002bdu.3	+	9	843	c.685A>G	c.(685-687)AAA>GAA	p.K229E	PSMA4_uc010blf.2_Missense_Mutation_p.K229E|PSMA4_uc002bdv.3_Missense_Mutation_p.K158E|PSMA4_uc002bdw.3_Missense_Mutation_p.K205E|PSMA4_uc002bdx.3_Missense_Mutation_p.K158E	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	229					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78922159	78922159	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78922159T>C	uc002bed.1	-	5	600	c.488A>G	c.(487-489)GAC>GGC	p.D163G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	163	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0																		---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79288103	79288103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79288103C>T	uc002beq.2	-	21	3429	c.3054G>A	c.(3052-3054)ACG>ACA	p.T1018T	RASGRF1_uc002bep.2_Silent_p.T1002T|RASGRF1_uc010blm.1_Silent_p.T927T|RASGRF1_uc002ber.3_Silent_p.T1002T|RASGRF1_uc010unh.1_Silent_p.T413T|RASGRF1_uc002beo.2_Silent_p.T234T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1020					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79748674	79748674	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79748674C>T	uc002bew.1	+	2	260	c.185C>T	c.(184-186)GCC>GTC	p.A62V	KIAA1024_uc010unk.1_Missense_Mutation_p.A62V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	62						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749496	79749496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79749496C>T	uc002bew.1	+	2	1082	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	KIAA1024_uc010unk.1_Missense_Mutation_p.A336V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	336						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
MTHFS	10588	broad.mit.edu	37	15	80137564	80137564	+	Silent	SNP	C	T	T	rs150067777	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80137564C>T	uc002bex.3	-	3	640	c.600G>A	c.(598-600)TCG>TCA	p.S200S	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	200					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)														---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80263396	80263396	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80263396C>T	uc002bfc.3	-	1	248	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	BCL2A1_uc002bfd.3_Silent_p.Q22Q	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	BCL2-related protein A1 isoform 1	22					anti-apoptosis|apoptosis	cytoplasm	protein binding			pancreas(1)	1																		---	---	---	---
KIAA1199	57214	broad.mit.edu	37	15	81241186	81241186	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81241186T>C	uc002bfw.1	+	29	4267	c.4007T>C	c.(4006-4008)GTG>GCG	p.V1336A	KIAA1199_uc010unn.1_Missense_Mutation_p.V1336A|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1336										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
MESDC2	23184	broad.mit.edu	37	15	81274436	81274436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81274436G>A	uc002bfy.1	-	2	374	c.301C>T	c.(301-303)CCT>TCT	p.P101S	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	101	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0																		---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598350	81598350	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81598350G>A	uc002bgh.3	+	17	3898	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1216T|IL16_uc002bgg.2_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.2_Silent_p.T668T|IL16_uc002bgk.2_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1174	PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81650613	81650613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81650613A>G	uc002bgo.1	-	7	620	c.620T>C	c.(619-621)GTC>GCC	p.V207A	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.V207A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	207	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336468	82336468	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82336468A>G	uc002bgq.1	-	2	1058	c.743T>C	c.(742-744)GTG>GCG	p.V248A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	248					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575356	82575356	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82575356G>A	uc002bgv.2	+	3	1219	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	FAM154B_uc010unr.1_Missense_Mutation_p.G369S|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	384										skin(2)	2																		---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83240228	83240228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83240228G>A	uc002bit.2	-	3	562	c.425C>T	c.(424-426)GCG>GTG	p.A142V	CPEB1_uc002biq.2_Missense_Mutation_p.A7V|CPEB1_uc002bir.2_Missense_Mutation_p.A7V|CPEB1_uc002bis.2_Missense_Mutation_p.A7V|CPEB1_uc010uod.1_5'UTR|CPEB1_uc010uoe.1_Missense_Mutation_p.A85V|CPEB1_uc002biu.2_Missense_Mutation_p.A109V|CPEB1_uc010uof.1_Missense_Mutation_p.A7V|CPEB1_uc002biv.2_Missense_Mutation_p.A82V	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	82					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83456128	83456128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83456128C>T	uc002bjd.2	-	2	182	c.15G>A	c.(13-15)TCG>TCA	p.S5S	FSD2_uc010uol.1_Silent_p.S5S|FSD2_uc010uom.1_Silent_p.S5S	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	5										central_nervous_system(1)	1																		---	---	---	---
WHAMM	123720	broad.mit.edu	37	15	83481966	83481966	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83481966T>C	uc002bje.2	+	2	1227	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	241						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0																		---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83677350	83677350	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83677350A>T	uc010uoo.1	-	3	350	c.316T>A	c.(316-318)TAT>AAT	p.Y106N	C15orf40_uc010uon.1_Missense_Mutation_p.Y106N|C15orf40_uc002bjm.2_Missense_Mutation_p.Y106N|C15orf40_uc010uop.1_Missense_Mutation_p.Y106N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.Y106N	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207 isoform d	79										skin(1)	1																		---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83710472	83710472	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83710472A>G	uc002bjn.2	-						BTBD1_uc002bjo.2_Intron	NM_025238	NP_079514			BTB (POZ) domain containing 1 isoform 1							cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)														---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805252	83805252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83805252G>A	uc002bjp.2	+	10	1050	c.941G>A	c.(940-942)GGT>GAT	p.G314D	TM6SF1_uc010bmq.2_Missense_Mutation_p.G283D|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Missense_Mutation_p.G166D	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	314						integral to membrane				ovary(1)	1																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83931934	83931934	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83931934C>A	uc002bjt.1	-	4	2157	c.2069G>T	c.(2068-2070)AGG>ATG	p.R690M	BNC1_uc010uos.1_Missense_Mutation_p.R678M	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	690					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83932495	83932495	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83932495T>G	uc002bjt.1	-	4	1596	c.1508A>C	c.(1507-1509)AAC>ACC	p.N503T	BNC1_uc010uos.1_Missense_Mutation_p.N491T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	503					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164124	85164124	+	Missense_Mutation	SNP	G	A	A	rs147069559		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85164124G>A	uc002bkr.2	+	3	924	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	ZSCAN2_uc010bmz.1_Missense_Mutation_p.R231Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.R83Q|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	233	C2H2-type 1.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)														---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327807	85327807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85327807G>A	uc002bld.2	+	4	2237	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	634	C2H2-type 2; atypical.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383526	85383526	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383526G>A	uc002ble.2	+	5	1789	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	541					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383680	85383680	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383680C>A	uc002ble.2	+	5	1943	c.1776C>A	c.(1774-1776)GCC>GCA	p.A592A		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	592					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85399886	85399886	+	Silent	SNP	G	A	A	rs141003674		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85399886G>A	uc002ble.2	+	6	2690	c.2523G>A	c.(2521-2523)ACG>ACA	p.T841T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	841					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438167	85438167	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85438167C>A	uc002blg.2	+						SLC28A1_uc010upd.1_Intron|SLC28A1_uc010bnb.2_Intron|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron|SLC28A1_uc002blf.2_Intron	NM_004213	NP_004204			solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659309	85659309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85659309G>A	uc002blh.2	+	16	1683	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*	PDE8A_uc002bli.2_Nonsense_Mutation_p.W452*|PDE8A_uc010bnc.2_Nonsense_Mutation_p.W251*|PDE8A_uc010bnd.2_Nonsense_Mutation_p.W251*|PDE8A_uc002blj.2_Nonsense_Mutation_p.W118*|PDE8A_uc002blk.2_Nonsense_Mutation_p.W118*	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	498					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122596	86122596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86122596C>T	uc002blv.1	+	7	1467	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	AKAP13_uc002blt.1_Missense_Mutation_p.P433S|AKAP13_uc002blu.1_Missense_Mutation_p.P433S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697774	86697774	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86697774C>T	uc002blz.1	+	3	318	c.238C>T	c.(238-240)CGT>TGT	p.R80C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678533	88678533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88678533A>G	uc002bme.1	-	9	1165	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	NTRK3_uc002bmh.2_Missense_Mutation_p.W335R|NTRK3_uc002bmf.1_Missense_Mutation_p.W335R|NTRK3_uc010upl.1_Missense_Mutation_p.W237R|NTRK3_uc010bnh.1_Missense_Mutation_p.W335R|NTRK3_uc002bmg.2_Missense_Mutation_p.W335R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	335	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88726694	88726694	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88726694C>G	uc002bme.1	-	4	512	c.350G>C	c.(349-351)AGC>ACC	p.S117T	NTRK3_uc002bmh.2_Missense_Mutation_p.S117T|NTRK3_uc002bmf.1_Missense_Mutation_p.S117T|NTRK3_uc010upl.1_Missense_Mutation_p.S19T|NTRK3_uc010bnh.1_Missense_Mutation_p.S117T|NTRK3_uc002bmg.2_Missense_Mutation_p.S117T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	117	LRR 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
AEN	64782	broad.mit.edu	37	15	89169940	89169940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89169940A>G	uc002bmt.2	+	2	651	c.500A>G	c.(499-501)CAC>CGC	p.H167R	AEN_uc010bnl.2_Missense_Mutation_p.H167R|AEN_uc010bnm.1_Missense_Mutation_p.H167R	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	167	Exonuclease.|Nuclear localization signal.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0																		---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89811723	89811723	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89811723T>C	uc010bnp.1	+	10	939	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	FANCI_uc002bnm.1_Silent_p.Y283Y|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Y104Y	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	283					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89844640	89844640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89844640T>C	uc010bnp.1	+	27	3063	c.2973T>C	c.(2971-2973)AGT>AGC	p.S991S	FANCI_uc002bnm.1_Silent_p.S931S|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.S752S|FANCI_uc002bnq.1_Silent_p.S404S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	991					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
POLG	5428	broad.mit.edu	37	15	89864450	89864450	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89864450G>A	uc002bns.3	-	17	2922	c.2640C>T	c.(2638-2640)GCC>GCT	p.A880A	POLG_uc002bnr.3_Silent_p.A880A	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	880					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLG	5428	broad.mit.edu	37	15	89871936	89871936	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89871936C>T	uc002bns.3	-	5	1432	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	POLG_uc002bnr.3_Missense_Mutation_p.D384N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	384					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90128935	90128935	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90128935G>A	uc002boe.2	+							NM_152259	NP_689472			leucine-rich repeat kinase 1						cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90276280	90276280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90276280C>T	uc002boj.2	+	13	1475	c.1374C>T	c.(1372-1374)TGC>TGT	p.C458C	WDR93_uc010bnr.2_Intron|WDR93_uc010upz.1_Silent_p.C175C	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	458					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90344794	90344794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90344794G>A	uc002bop.3	-	11	1906	c.1614C>T	c.(1612-1614)GAC>GAT	p.D538D		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	538	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90349552G>A	uc002bop.3	-	2	555	c.263C>T	c.(262-264)ACG>ATG	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	88	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90802126	90802126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90802126T>C	uc002bpd.1	+	10	1607	c.1319T>C	c.(1318-1320)CTT>CCT	p.L440P	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	440					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)															---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90902116	90902116	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90902116G>A	uc002bpk.3	+	3	324	c.138G>A	c.(136-138)GAG>GAA	p.E46E		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
BLM	641	broad.mit.edu	37	15	91292795	91292795	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91292795A>G	uc002bpr.2	+	3	394	c.297A>G	c.(295-297)ACA>ACG	p.T99T	BLM_uc010uqh.1_Silent_p.T99T|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.T99T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	99					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
BLM	641	broad.mit.edu	37	15	91293254	91293254	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91293254T>G	uc002bpr.2	+	3	853	c.756T>G	c.(754-756)GCT>GCG	p.A252A	BLM_uc010uqh.1_Silent_p.A252A|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.A252A	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	252					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
FES	2242	broad.mit.edu	37	15	91430451	91430451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91430451G>A	uc002bpv.2	+	5	615	c.519G>A	c.(517-519)GTG>GTA	p.V173V	FES_uc010uqj.1_Silent_p.V115V|FES_uc010uqk.1_Silent_p.V155V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V115V|FES_uc002bpx.2_Silent_p.V173V|FES_uc002bpy.2_Silent_p.V115V	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	173	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436381	91436381	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436381C>T	uc002bpv.2	+	15	1974	c.1878C>T	c.(1876-1878)TGC>TGT	p.C626C	FES_uc010uqj.1_Silent_p.C498C|FES_uc010uqk.1_Silent_p.C608C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Silent_p.C556C|FES_uc002bpy.2_Silent_p.C568C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	626	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436956	91436956	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436956A>T	uc002bpv.2	+	17	2214	c.2118A>T	c.(2116-2118)CGA>CGT	p.R706R	FES_uc010uqj.1_Silent_p.R578R|FES_uc010uqk.1_Silent_p.R688R|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.R565R|FES_uc002bpx.2_Silent_p.R636R|FES_uc002bpy.2_Silent_p.R648R	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	706	Protein kinase.			R->Q: Negligible effect on autophosphorylation and kinase activity.	axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91454609	91454609	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91454609G>A	uc010bnz.2	+						MAN2A2_uc010boa.2_3'UTR|MAN2A2_uc002bqc.2_Intron|MAN2A2_uc010uql.1_Intron|MAN2A2_uc010uqm.1_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113			mannosidase, alpha, class 2A, member 2						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91456571	91456571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91456571G>A	uc010bnz.2	+	18	2768	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	MAN2A2_uc002bqc.2_Missense_Mutation_p.A885T|MAN2A2_uc010uql.1_Missense_Mutation_p.A547T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A464T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	885					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91496278	91496278	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91496278T>C	uc002bqg.2	+	18	2761	c.2421_splice	c.e18+2	p.E807_splice	UNC45A_uc002bqd.2_Splice_Site_p.E792_splice|UNC45A_uc010uqr.1_Splice_Site_p.E199_splice|UNC45A_uc002bqi.2_Splice_Site_p.E85_splice|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141			smooth muscle cell associated protein-1 isoform						cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91504966	91504966	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91504966C>A	uc002bqj.2	+	9	1378	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	RCCD1_uc002bqk.2_Silent_p.T366T|RCCD1_uc002bql.2_Silent_p.T364T|RCCD1_uc010bob.2_Silent_p.T155T	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	366	RCC1 4.										0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91505010	91505010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91505010T>C	uc002bqj.2	+	9					RCCD1_uc002bqk.2_3'UTR|RCCD1_uc002bql.2_3'UTR|RCCD1_uc010bob.2_3'UTR	NM_033544	NP_291022			RCC1 domain containing 1												0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	T	T	rs148654261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91769874C>T	uc002bqv.2	+	1	772	c.381C>T	c.(379-381)TTC>TTT	p.F127F	SV2B_uc002bqt.2_Silent_p.F127F|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	127	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)															---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981597	92981597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92981597A>G	uc002bra.2	+	4	460	c.305A>G	c.(304-306)AAG>AGG	p.K102R	ST8SIA2_uc002brb.2_Missense_Mutation_p.K81R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	102	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015547	93015547	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015547A>T	uc002brc.1	+	1	641	c.169A>T	c.(169-171)ATG>TTG	p.M57L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	57										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015736	93015736	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015736A>G	uc002brc.1	+	1	830	c.358A>G	c.(358-360)AAC>GAC	p.N120D	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	120										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93482927	93482927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93482927G>A	uc002bsp.2	+	7	1246	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	CHD2_uc002bsm.1_Missense_Mutation_p.R224Q|CHD2_uc002bsn.2_Missense_Mutation_p.R224Q|CHD2_uc002bso.1_Missense_Mutation_p.R224Q|CHD2_uc010urb.1_Missense_Mutation_p.R237Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	224					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93489068	93489068	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93489068T>C	uc002bsp.2	+	11	1746	c.1171T>C	c.(1171-1173)TCT>CCT	p.S391P	CHD2_uc002bsn.2_Missense_Mutation_p.S391P|CHD2_uc002bso.1_Missense_Mutation_p.S391P|CHD2_uc010urb.1_Missense_Mutation_p.S404P|CHD2_uc010bof.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	391	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93528799	93528799	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93528799T>C	uc002bsp.2	+	26	3884	c.3309T>C	c.(3307-3309)AGT>AGC	p.S1103S	CHD2_uc002bso.1_Silent_p.S1103S	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1103					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251247	99251247	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99251247G>T	uc002bul.2	+	2	601	c.551G>T	c.(550-552)GGG>GTG	p.G184V	IGF1R_uc010urq.1_Missense_Mutation_p.G184V|IGF1R_uc010bon.2_Missense_Mutation_p.G184V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	184					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99669820	99669820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99669820G>A	uc002bup.2	+	6	1375	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	SYNM_uc002buo.2_Missense_Mutation_p.V419I|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	419	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100692807	100692807	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100692807G>A	uc002bvv.1	-						ADAMTS17_uc002bvx.1_Intron	NM_139057	NP_620688			ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)														---	---	---	---
LINS1	55180	broad.mit.edu	37	15	101109963	101109963	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101109963T>A	uc002bwe.2	-	8	2045	c.1754A>T	c.(1753-1755)GAT>GTT	p.D585V	LINS1_uc002bwd.2_Missense_Mutation_p.D172V|LINS1_uc002bwf.2_Missense_Mutation_p.D585V|LINS1_uc002bwg.2_Missense_Mutation_p.D585V|LINS1_uc002bwh.2_Missense_Mutation_p.D585V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	585											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)															---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101434180	101434180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101434180C>A	uc002bwn.3	+	6	663	c.559C>A	c.(559-561)CTG>ATG	p.L187M	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	187					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438337	101438337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101438337T>A	uc002bwn.3	+	8	934	c.830T>A	c.(829-831)GTG>GAG	p.V277E	ALDH1A3_uc010bpb.2_Missense_Mutation_p.V170E|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	277					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101719007	101719007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101719007A>G	uc002bwt.1	-	4	1478	c.995T>C	c.(994-996)ATA>ACA	p.I332T	CHSY1_uc010usd.1_Missense_Mutation_p.I60T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	332	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102211755	102211755	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102211755T>C	uc002bxm.2	-	15	1956	c.1901A>G	c.(1900-1902)TAC>TGC	p.Y634C	TARSL2_uc002bxl.2_Missense_Mutation_p.Y179C|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	634					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358739	102358739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102358739C>T	uc010uts.1	+	1	350	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---
NPRL3	8131	broad.mit.edu	37	16	142647	142647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:142647A>G	uc002cfr.2	-	11	1207	c.1108T>C	c.(1108-1110)TTG>CTG	p.L370L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L191L|NPRL3_uc010uub.1_Silent_p.L345L|NPRL3_uc010uuc.1_Silent_p.L292L|NPRL3_uc002cfs.1_Silent_p.L345L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	370							protein binding			ovary(1)	1																		---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	334558	334558	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:334558G>T	uc002cgn.1	+	7	1479	c.371G>T	c.(370-372)CGC>CTC	p.R124L	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.R124L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	124	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	336467	336467	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:336467A>G	uc002cgn.1	+	13	2342	c.1234A>G	c.(1234-1236)AAG>GAG	p.K412E	PDIA2_uc010bqt.1_Missense_Mutation_p.K257E|PDIA2_uc002cgo.1_Missense_Mutation_p.K412E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	412	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	425133	425133	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:425133T>A	uc002cgu.3	-	8	1568	c.1439A>T	c.(1438-1440)GAG>GTG	p.E480V	TMEM8A_uc002cgv.3_Missense_Mutation_p.E287V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	480	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3																		---	---	---	---
SOLH	6650	broad.mit.edu	37	16	597774	597774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:597774C>T	uc002chi.2	+	4	1299	c.936C>T	c.(934-936)GCC>GCT	p.A312A	SOLH_uc002chh.1_Silent_p.A312A	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	312					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)																---	---	---	---
C16orf11	146325	broad.mit.edu	37	16	614329	614329	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:614329G>A	uc002chk.2	+	2	1314	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	345	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PIGQ	9091	broad.mit.edu	37	16	624233	624233	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:624233G>A	uc002cho.2	+	2	261	c.159G>A	c.(157-159)CGG>CGA	p.R53R	PIGQ_uc010bqw.2_Silent_p.R53R|PIGQ_uc002chm.2_Silent_p.R53R|PIGQ_uc002chn.2_Silent_p.R53R|PIGQ_uc010uui.1_Silent_p.R67R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	53					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	675985	675985	+	Silent	SNP	G	A	A	rs149195145	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:675985G>A	uc002chr.2	+	5	545	c.429G>A	c.(427-429)GCG>GCA	p.A143A	RAB40C_uc002chq.2_Silent_p.A124A	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)																---	---	---	---
WDR90	197335	broad.mit.edu	37	16	701681	701681	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:701681G>T	uc002cii.1	+	8	828	c.774G>T	c.(772-774)CCG>CCT	p.P258P	WDR90_uc002cig.1_Silent_p.P258P|WDR90_uc002cih.1_Silent_p.P258P|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	258										ovary(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	822937	822937	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:822937C>T	uc002cjz.1	-	11	2248	c.2248G>A	c.(2248-2250)GTC>ATC	p.V750I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	399	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	823198	823198	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:823198G>A	uc002cjz.1	-	10	2070	c.2070C>T	c.(2068-2070)AAC>AAT	p.N690N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	339	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
SSTR5	6755	broad.mit.edu	37	16	1129571	1129571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1129571G>A	uc002ckq.2	+	1	791	c.703G>A	c.(703-705)GTG>ATG	p.V235M	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	235	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250495	1250495	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250495G>A	uc002cks.2	+	7	1291	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	CACNA1H_uc002ckt.2_Missense_Mutation_p.R348H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	348	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250577	1250577	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250577C>T	uc002cks.2	+						CACNA1H_uc002ckt.2_Intron	NM_021098	NP_066921			calcium channel, voltage-dependent, T type,						aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1260939	1260939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1260939G>A	uc002cks.2	+	21	4439	c.4191G>A	c.(4189-4191)GTG>GTA	p.V1397V	CACNA1H_uc002ckt.2_Silent_p.V1397V|CACNA1H_uc002cku.2_Silent_p.V103V|CACNA1H_uc010brj.2_Silent_p.V103V|CACNA1H_uc002ckv.2_Silent_p.V103V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1397	III.|Helical; Name=S4 of repeat III; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1412121	1412121	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1412121C>A	uc002clm.2	+	6	435	c.400C>A	c.(400-402)CGG>AGG	p.R134R		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	134						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)																---	---	---	---
TMEM204	79652	broad.mit.edu	37	16	1584270	1584270	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1584270G>A	uc002cmc.2	+	2					IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_5'UTR|TMEM204_uc010brr.1_5'UTR	NM_024600	NP_078876			transmembrane protein 204						response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)																---	---	---	---
IGFALS	3483	broad.mit.edu	37	16	1840991	1840991	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1840991G>A	uc002cmy.2	-	2	1509	c.1428C>T	c.(1426-1428)GAC>GAT	p.D476D	IGFALS_uc010uvn.1_Silent_p.D514D|IGFALS_uc010uvo.1_Silent_p.D110D	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	476	LRR 17.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2140480	2140480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2140480G>A	uc002cos.1	-	45	12459	c.12250C>T	c.(12250-12252)CCC>TCC	p.P4084S	PKD1_uc002cot.1_Missense_Mutation_p.P4083S|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4084	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2147934	2147934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2147934C>T	uc002cos.1	-	31	10311	c.10102G>A	c.(10102-10104)GAC>AAC	p.D3368N	PKD1_uc002cot.1_Missense_Mutation_p.D3368N|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3368	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2160411	2160411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2160411T>A	uc002cos.1	-	15	4966	c.4757A>T	c.(4756-4758)GAC>GTC	p.D1586V	PKD1_uc002cot.1_Missense_Mutation_p.D1586V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1586	PKD 11.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2164608	2164608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2164608C>T	uc002cos.1	-	11	2625	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	PKD1_uc002cot.1_Missense_Mutation_p.V806M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	806	PKD 2.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2333349	2333349	+	Nonsense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2333349G>C	uc002cpy.1	-	26	4585	c.3873C>G	c.(3871-3873)TAC>TAG	p.Y1291*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y1233*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1291					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)																---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546590	2546590	+	Silent	SNP	C	T	T	rs149371169	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2546590C>T	uc002cql.2	+	2	581	c.441C>T	c.(439-441)GAC>GAT	p.D147D	TBC1D24_uc002cqk.2_Silent_p.D147D|TBC1D24_uc002cqm.2_Silent_p.D147D|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	147	Rab-GAP TBC.		D -> H (in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons).		neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0																		---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2752389	2752389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2752389C>T	uc002crd.2	+	5	640	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	195					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2812491	2812491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2812491A>G	uc002crk.2	+	11	2511	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R	SRRM2_uc002crj.1_Silent_p.R558R|SRRM2_uc002crl.1_Silent_p.R654R|SRRM2_uc010bsu.1_Silent_p.R558R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	654	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813516	2813516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2813516A>G	uc002crk.2	+	11	3536	c.2987A>G	c.(2986-2988)TAC>TGC	p.Y996C	SRRM2_uc002crj.1_Missense_Mutation_p.Y900C|SRRM2_uc002crl.1_Missense_Mutation_p.Y996C|SRRM2_uc010bsu.1_Missense_Mutation_p.Y900C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	996	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2814127	2814127	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2814127C>T	uc002crk.2	+	11	4147	c.3598C>T	c.(3598-3600)CTG>TTG	p.L1200L	SRRM2_uc002crj.1_Silent_p.L1104L|SRRM2_uc002crl.1_Silent_p.L1200L|SRRM2_uc010bsu.1_Silent_p.L1104L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3107401	3107401	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3107401T>C	uc002cth.2	+						uc002ctj.1_Intron	NM_022468	NP_071913			matrix metalloproteinase 25 preproprotein						inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3169666	3169666	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3169666C>A	uc002cub.2	+	7	1140	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	ZNF205_uc002cua.2_Silent_p.P335P	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3170039	3170039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3170039C>T	uc002cub.2	+	7	1513	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ZNF205_uc002cua.2_Missense_Mutation_p.R460C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	460	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254364	3254364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3254364C>A	uc010uwu.1	+	1	118	c.118C>A	c.(118-120)CTG>ATG	p.L40M		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3632367	3632367	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3632367G>A	uc002cvp.2	-	15	6108	c.5481C>T	c.(5479-5481)GGC>GGT	p.G1827G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1827	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3656564	3656564	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3656564A>G	uc002cvp.2	-	3	1298	c.671T>C	c.(670-672)TTG>TCG	p.L224S	BTBD12_uc002cvq.1_Missense_Mutation_p.L224S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	224	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3658827	3658827	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3658827A>G	uc002cvp.2	-	2	766	c.139T>C	c.(139-141)TCT>CCT	p.S47P	BTBD12_uc002cvq.1_Missense_Mutation_p.S47P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	47	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3740920	3740920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3740920C>A	uc002cvt.3	-	2	244	c.155G>T	c.(154-156)AGC>ATC	p.S52I	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	52					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)														OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778617	3778617	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3778617G>A	uc002cvv.2	-	31	6635	c.6431C>T	c.(6430-6432)GCC>GTC	p.A2144V	CREBBP_uc002cvw.2_Missense_Mutation_p.A2106V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2144					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843433	3843433	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3843433G>A	uc002cvv.2	-	4	1374	c.1170C>T	c.(1168-1170)AAC>AAT	p.N390N	CREBBP_uc002cvw.2_Silent_p.N390N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	390	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4029168	4029168	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164493	4164493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164493A>G	uc002cvx.2	-	2	1490	c.951T>C	c.(949-951)ATT>ATC	p.I317I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	317	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164997	4164997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164997C>T	uc002cvx.2	-	2	986	c.447G>A	c.(445-447)GCG>GCA	p.A149A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	149	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
SRL	6345	broad.mit.edu	37	16	4242609	4242609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4242609C>T	uc002cvz.3	-	6	980	c.967G>A	c.(967-969)GAG>AAG	p.E323K	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	782						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308190	4308190	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308190C>A	uc010uxg.1	-	7	1137	c.883G>T	c.(883-885)GCT>TCT	p.A295S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	295					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308199	4308199	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308199G>C	uc010uxg.1	-	7	1128	c.874C>G	c.(874-876)CAG>GAG	p.Q292E		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	292					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4409546	4409546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4409546C>T	uc002cwh.3	-	22	2305	c.2185G>A	c.(2185-2187)GTG>ATG	p.V729M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.V729M|CORO7_uc002cwg.3_Missense_Mutation_p.V509M|CORO7_uc010uxh.1_Missense_Mutation_p.V711M|CORO7_uc010uxi.1_Missense_Mutation_p.V644M|CORO7_uc002cwi.1_Missense_Mutation_p.V509M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	729	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4438557	4438557	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4438557C>T	uc002cwh.3	-	8	811	c.691G>A	c.(691-693)GGA>AGA	p.G231R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.G231R|CORO7_uc002cwg.3_Missense_Mutation_p.G11R|CORO7_uc010uxh.1_Missense_Mutation_p.G213R|CORO7_uc010uxi.1_Missense_Mutation_p.G146R|CORO7_uc002cwi.1_Missense_Mutation_p.G11R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.G11R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	231	WD 4.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																		---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4780145	4780145	+	Silent	SNP	G	A	A	rs145030609	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4780145G>A	uc002cxj.1	-	3	301	c.6C>T	c.(4-6)TCC>TCT	p.S2S	ANKS3_uc002cxi.1_5'Flank|ANKS3_uc002cxk.2_5'UTR|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Intron|ANKS3_uc002cxm.2_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	2											0																		---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4815990	4815990	+	5'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4815990G>T	uc002cxp.1	-	2					ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_5'UTR	NM_021646	NP_067678			zinc finger protein 500						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4847966	4847966	+	Missense_Mutation	SNP	G	A	A	rs147170560		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4847966G>A	uc002cxv.2	-	9	770	c.668C>T	c.(667-669)GCG>GTG	p.A223V	ROGDI_uc002cxu.2_Missense_Mutation_p.A133V|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A133V	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	223						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4851560	4851560	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4851560C>A	uc002cxv.2	-	3	246	c.144G>T	c.(142-144)CCG>CCT	p.P48P	ROGDI_uc002cxu.2_5'UTR|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_5'UTR|ROGDI_uc010bub.1_RNA	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	48						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4908571	4908571	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4908571T>C	uc002cyb.2	+	4	678	c.339T>C	c.(337-339)GGT>GGC	p.G113G	UBN1_uc010uxw.1_Silent_p.G113G|UBN1_uc002cyc.2_Silent_p.G113G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	113	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4920857	4920857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4920857G>A	uc002cyb.2	+	11	1782	c.1443G>A	c.(1441-1443)GAG>GAA	p.E481E	UBN1_uc010uxw.1_Silent_p.E481E|UBN1_uc002cyc.2_Silent_p.E481E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5056027	5056027	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5056027A>T	uc002cye.2	+	12	1595	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	472	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8722970	8722970	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8722970A>G	uc002cyz.2	+						C16orf68_uc002cza.2_Intron	NM_024109	NP_077014			hypothetical protein LOC79091								methyltransferase activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8735041	8735041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8735041G>T	uc002cyz.2	+	7	1102	c.826G>T	c.(826-828)GAT>TAT	p.D276Y	C16orf68_uc002cza.2_Missense_Mutation_p.D220Y	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	276							methyltransferase activity				0																		---	---	---	---
PMM2	5373	broad.mit.edu	37	16	8900242	8900242	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8900242A>G	uc002czf.3	+	4	395	c.325A>G	c.(325-327)AAA>GAA	p.K109E	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.K26E|PMM2_uc010uyh.1_Intron|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Intron|PMM2_uc010uye.1_Missense_Mutation_p.K109E	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	109					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1																		---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8952326	8952326	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8952326C>T	uc002czh.1	-	3	512	c.162G>A	c.(160-162)ACG>ACA	p.T54T	PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Silent_p.T54T	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN	calcium-regulated heat-stable protein 1	54					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding				0																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8988948C>T	uc002czl.2	-	28	3178	c.2979G>A	c.(2977-2979)GCG>GCA	p.A993A	USP7_uc010uyk.1_Silent_p.A894A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.A894A|USP7_uc002czk.2_Silent_p.A977A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3																		---	---	---	---
NUBP1	4682	broad.mit.edu	37	16	10846529	10846529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10846529A>G	uc002daa.1	+	4	344	c.321A>G	c.(319-321)GGA>GGG	p.G107G	NUBP1_uc010bum.1_Missense_Mutation_p.R14G|NUBP1_uc002dab.1_Silent_p.G107G	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	107					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11001075	11001075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11001075G>A	uc002dai.3	+	11	1859	c.1726G>A	c.(1726-1728)GCA>ACA	p.A576T	CIITA_uc002daj.3_Missense_Mutation_p.A577T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A576T|CIITA_uc002dah.2_Missense_Mutation_p.A528T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	576	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217761	11217761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11217761G>T	uc002dao.2	+	21	2661	c.2431G>T	c.(2431-2433)GGC>TGC	p.G811C	CLEC16A_uc002dan.3_Missense_Mutation_p.G793C|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	811										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11941581	11941581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11941581T>C	uc002dbp.1	-	3	401	c.328A>G	c.(328-330)ACA>GCA	p.T110A	RSL1D1_uc010buv.1_Missense_Mutation_p.T110A|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	110					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12450122	12450122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12450122G>A	uc002dby.3	+	9	786	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14020418	14020418	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14020418G>A	uc002dce.2	+	3	398	c.389G>A	c.(388-390)GGC>GAC	p.G130D	ERCC4_uc010bva.2_Missense_Mutation_p.G130D	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	130					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14041574	14041574	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14041574A>G	uc002dce.2	+	11	2130	c.2121A>G	c.(2119-2121)GAA>GAG	p.E707E	ERCC4_uc010uyz.1_Silent_p.E257E	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	707	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14951484	14951484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14951484C>T	uc002dcv.2	+	11	1258	c.1192C>T	c.(1192-1194)CCT>TCT	p.P398S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	398	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14988844	14988844	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14988844G>A	uc002dcv.2	+							NM_014287	NP_055102			nodal modulator 1 precursor							integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NTAN1	123803	broad.mit.edu	37	16	15131997	15131997	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15131997A>T	uc002ddd.2	-	10	829	c.824T>A	c.(823-825)TTA>TAA	p.L275*	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Nonsense_Mutation_p.L170*	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	275						cytoplasm					0																		---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15180276	15180276	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15180276A>G	uc002dde.2	-	4	356	c.288T>C	c.(286-288)CGT>CGC	p.R96R	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_5'UTR|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Silent_p.R96R	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15719361	15719361	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15719361T>C	uc002ddr.2	-	8	2014	c.1821A>G	c.(1819-1821)AAA>AAG	p.K607K	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Silent_p.K603K|KIAA0430_uc010uzw.1_Silent_p.K605K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	606						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15815483	15815483	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15815483G>T	uc002ddy.2	-	32	4481	c.4374C>A	c.(4372-4374)GCC>GCA	p.A1458A	MYH11_uc002ddv.2_Silent_p.A1465A|MYH11_uc002ddw.2_Silent_p.A1458A|MYH11_uc002ddx.2_Silent_p.A1465A|MYH11_uc010bvg.2_Silent_p.A1290A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A164A|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1458	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16139870	16139870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16139870G>A	uc010bvi.2	+	9	1393	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	ABCC1_uc010bvj.2_Silent_p.K406K|ABCC1_uc010bvk.2_Silent_p.K406K|ABCC1_uc010bvl.2_Silent_p.K406K|ABCC1_uc010bvm.2_Silent_p.K406K|ABCC1_uc002del.3_Silent_p.K290K|ABCC1_uc010bvn.2_Silent_p.K269K	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	406	Cytoplasmic.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16208879	16208879	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16208879G>A	uc010bvi.2	+	23	3511	c.3336G>A	c.(3334-3336)ACG>ACA	p.T1112T	ABCC1_uc010bvj.2_Silent_p.T1053T|ABCC1_uc010bvk.2_Silent_p.T1056T|ABCC1_uc010bvl.2_Silent_p.T1112T|ABCC1_uc010bvm.2_Silent_p.T997T|ABCC1_uc002del.3_Silent_p.T1006T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1112	Helical; Name=15.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16257015	16257015	+	Missense_Mutation	SNP	C	T	T	rs63750427		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16257015C>T	uc002den.3	-	24	3378	c.3341G>A	c.(3340-3342)CGC>CAC	p.R1114H	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1114	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		R -> P (in PXE; autosomal recessive).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16302603	16302603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16302603T>C	uc002den.3	-	7	813	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.N271S	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	259	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17228514	17228514	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17228514A>G	uc002dfa.2	-	9	1928	c.1843T>C	c.(1843-1845)TAC>CAC	p.Y615H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	615	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---
NOMO2	283820	broad.mit.edu	37	16	18542829	18542829	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18542829A>G	uc002dfe.2	-	13	1568	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	NOMO2_uc002dff.2_Missense_Mutation_p.V499A|NOMO2_uc010bvx.2_Missense_Mutation_p.V332A	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1																		---	---	---	---
ARL6IP1	23204	broad.mit.edu	37	16	18806808	18806808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18806808A>C	uc002dfl.1	-	4	455	c.386T>G	c.(385-387)CTA>CGA	p.L129R	ARL6IP1_uc010van.1_Missense_Mutation_p.L100R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	129						integral to membrane	protein binding				0																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847478	18847478	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18847478A>G	uc002dfm.2	-	48	8197	c.7834T>C	c.(7834-7836)TTG>CTG	p.L2612L	SMG1_uc010bwb.2_Silent_p.L2472L|SMG1_uc010bwa.2_Silent_p.L1343L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2612					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18896923	18896923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18896923A>G	uc002dfm.2	-	7	1251	c.888T>C	c.(886-888)TGT>TGC	p.C296C	SMG1_uc010bwb.2_Silent_p.C156C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	296	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126792	19126792	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126792C>A	uc002dfu.3	+	1	1539	c.1009C>A	c.(1009-1011)CTC>ATC	p.L337I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.L33I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	337	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126815	19126815	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126815G>T	uc002dfu.3	+	1	1562	c.1032G>T	c.(1030-1032)GAG>GAT	p.E344D	ITPRIPL2_uc002dft.2_Missense_Mutation_p.E40D	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	344	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19195180G>A	uc002dfw.2	+	5	993	c.662G>A	c.(661-663)CGC>CAC	p.R221H	SYT17_uc002dfx.2_Missense_Mutation_p.R160H|SYT17_uc002dfy.2_Missense_Mutation_p.R217H|SYT17_uc002dfv.1_Missense_Mutation_p.R160H	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	221	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1																		---	---	---	---
CP110	9738	broad.mit.edu	37	16	19548587	19548587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19548587G>A	uc002dgl.3	+	4	1843	c.1596G>A	c.(1594-1596)GAG>GAA	p.E532E	CP110_uc002dgk.3_Silent_p.E532E			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	532	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19627476	19627476	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19627476A>G	uc002dgn.1	+	13	1076	c.1064A>G	c.(1063-1065)AAT>AGT	p.N355S	C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Missense_Mutation_p.N104S|C16orf62_uc002dgm.1_Missense_Mutation_p.N355S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	355						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19639135	19639135	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19639135C>A	uc002dgn.1	+						C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Intron	NM_020314	NP_064710			hypothetical protein LOC57020							integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19680566	19680566	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19680566A>T	uc002dgn.1	+	27	2318	c.2306A>T	c.(2305-2307)GAA>GTA	p.E769V	C16orf62_uc002dgo.1_Missense_Mutation_p.E676V|C16orf62_uc002dgp.1_Missense_Mutation_p.E518V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	769						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19710844	19710844	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19710844G>A	uc002dgn.1	+	30	2679	c.2667G>A	c.(2665-2667)TCG>TCA	p.S889S	C16orf62_uc002dgo.1_Silent_p.S796S|C16orf62_uc002dgp.1_Silent_p.S638S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	889						integral to membrane				ovary(1)	1																		---	---	---	---
GP2	2813	broad.mit.edu	37	16	20330936	20330936	+	Intron	SNP	C	T	T	rs72776648	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20330936C>T	uc002dgv.2	-						GP2_uc002dgw.2_Intron|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241			zymogen granule membrane glycoprotein 2 isoform							anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20352615	20352615	+	Missense_Mutation	SNP	G	A	A	rs139607138	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20352615G>A	uc002dgz.2	-	7	1504	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	UMOD_uc002dha.2_Missense_Mutation_p.R459W|UMOD_uc002dhb.2_Missense_Mutation_p.R492W	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20386160	20386160	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20386160A>G	uc002dhc.1	-	5	888	c.665T>C	c.(664-666)GTC>GCC	p.V222A		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	222					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1																		---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20851156	20851156	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20851156T>A	uc002dhv.2	+	14	1726	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V488D|LOC81691_uc002dhw.2_Missense_Mutation_p.V231D|LOC81691_uc002dhy.3_Missense_Mutation_p.V488D	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	488						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975196	20975196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20975196G>A	uc010vbe.1	-	53	10010	c.10010C>T	c.(10009-10011)ACG>ATG	p.T3337M	DNAH3_uc010vbd.1_Missense_Mutation_p.T772M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21031117	21031117	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21031117G>A	uc010vbe.1	-	41	5851	c.5851C>T	c.(5851-5853)CTC>TTC	p.L1951F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1951					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21061243	21061243	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21061243G>T	uc010vbe.1	-	30	4335	c.4335C>A	c.(4333-4335)GCC>GCA	p.A1445A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1445	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21086796	21086796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21086796G>A	uc010vbe.1	-	21	3056	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1019	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21273385	21273385	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21273385C>A	uc002dik.2	-	6	853	c.768G>T	c.(766-768)AAG>AAT	p.K256N	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K214N|CRYM_uc002dim.2_Missense_Mutation_p.K256N	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	256					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)													---	---	---	---
METTL9	51108	broad.mit.edu	37	16	21624098	21624098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21624098T>C	uc002dje.2	+	2	497	c.298T>C	c.(298-300)TAT>CAT	p.Y100H	uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.Y100H	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	100										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)														---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22151568	22151568	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22151568A>G	uc010vbq.1	+						VWA3A_uc010bxd.2_Intron	NM_173615	NP_775886			von Willebrand factor A domain containing 3A							extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)														---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22335840	22335840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22335840T>C	uc002dkk.2	+	16	1301	c.1145T>C	c.(1144-1146)GTG>GCG	p.V382A	POLR3E_uc002dkj.1_Missense_Mutation_p.V382A|POLR3E_uc002dkm.2_Missense_Mutation_p.V346A|POLR3E_uc010vbr.1_Missense_Mutation_p.V382A|POLR3E_uc002dkl.2_Missense_Mutation_p.V382A|POLR3E_uc010vbs.1_Missense_Mutation_p.V346A|POLR3E_uc010vbt.1_Missense_Mutation_p.V326A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	382					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)														---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926539	22926539	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079803	23079803	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079803C>A	uc002dll.2	-	16	3623	c.3623G>T	c.(3622-3624)AGC>ATC	p.S1208I	USP31_uc002dlk.2_Missense_Mutation_p.S480I|USP31_uc010vca.1_Missense_Mutation_p.S511I|USP31_uc010bxm.2_Missense_Mutation_p.S496I	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1208	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079919	23079919	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079919G>A	uc002dll.2	-	16	3507	c.3507C>T	c.(3505-3507)AGC>AGT	p.S1169S	USP31_uc002dlk.2_Silent_p.S441S|USP31_uc010vca.1_Silent_p.S472S|USP31_uc010bxm.2_Silent_p.S457S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1169	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080308	23080308	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23080308G>A	uc002dll.2	-	16	3118	c.3118C>T	c.(3118-3120)CGG>TGG	p.R1040W	USP31_uc002dlk.2_Missense_Mutation_p.R312W|USP31_uc010vca.1_Missense_Mutation_p.R343W|USP31_uc010bxm.2_Missense_Mutation_p.R328W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1040	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23208672	23208672	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23208672A>G	uc002dlm.1	+	6	1140	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	334	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23223385	23223385	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23223385A>G	uc002dlm.1	+	8	1346	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	403	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23366710	23366710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23366710A>G	uc002dln.2	+	4	852	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	226	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23383173	23383173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23383173A>G	uc002dln.2	+	7	1297	c.1121A>G	c.(1120-1122)TAC>TGC	p.Y374C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	374	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
COG7	91949	broad.mit.edu	37	16	23453914	23453914	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23453914A>G	uc002dlo.2	-	4	676	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	163					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
NDUFAB1	4706	broad.mit.edu	37	16	23607444	23607444	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23607444C>A	uc002dlw.2	-	1	196	c.168G>T	c.(166-168)CAG>CAT	p.Q56H		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	56					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24046880	24046880	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24046880T>C	uc002dmd.2	+						PRKCB_uc002dme.2_Intron	NM_212535	NP_997700			protein kinase C, beta isoform 1						apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192144	24192144	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24192144T>C	uc002dmd.2	+	13	1625	c.1428T>C	c.(1426-1428)TCT>TCC	p.S476S	PRKCB_uc002dme.2_Silent_p.S476S	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	476	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24578545	24578545	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24578545A>T	uc002dmh.2	+	15	2711	c.1671A>T	c.(1669-1671)GTA>GTT	p.V557V	RBBP6_uc010vcb.1_Silent_p.V424V|RBBP6_uc002dmi.2_Silent_p.V557V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V424V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581095	24581095	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24581095G>A	uc002dmh.2	+	17	4124	c.3084G>A	c.(3082-3084)GTG>GTA	p.V1028V	RBBP6_uc010vcb.1_Silent_p.V895V|RBBP6_uc002dmi.2_Silent_p.V994V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V861V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1028	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802947	24802947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24802947T>C	uc002dmm.2	+	6	3098	c.2984T>C	c.(2983-2985)ATA>ACA	p.I995T	TNRC6A_uc010bxs.2_Missense_Mutation_p.I742T|TNRC6A_uc010vcc.1_Missense_Mutation_p.I742T|TNRC6A_uc002dmn.2_Missense_Mutation_p.I742T|TNRC6A_uc002dmo.2_Missense_Mutation_p.I742T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	995	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24919375	24919375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24919375T>G	uc002dmu.2	+	13	1589	c.1357T>G	c.(1357-1359)TCC>GCC	p.S453A	SLC5A11_uc002dms.2_Missense_Mutation_p.S389A|SLC5A11_uc010vcd.1_Missense_Mutation_p.S418A|SLC5A11_uc002dmt.2_Missense_Mutation_p.S297A|SLC5A11_uc010vce.1_Missense_Mutation_p.S383A|SLC5A11_uc010bxt.2_Missense_Mutation_p.S389A|SLC5A11_uc002dmv.2_Missense_Mutation_p.S76A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	453	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24922695	24922695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24922695G>A	uc002dmu.2	+	16	2101	c.1869G>A	c.(1867-1869)TGG>TGA	p.W623*	SLC5A11_uc002dms.2_Nonsense_Mutation_p.W559*|SLC5A11_uc010vcd.1_Nonsense_Mutation_p.W588*|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.W467*|SLC5A11_uc010vce.1_Nonsense_Mutation_p.W553*|SLC5A11_uc010bxt.2_Nonsense_Mutation_p.W559*|SLC5A11_uc002dmv.2_Nonsense_Mutation_p.W246*	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	623	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24950789	24950789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24950789T>C	uc002dnb.2	-	17	1713	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.P64P|ARHGAP17_uc002dna.2_Silent_p.P267P|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	540	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24955129	24955129	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24955129T>C	uc002dnb.2	-	15	1389	c.1296A>G	c.(1294-1296)GAA>GAG	p.E432E	ARHGAP17_uc002dna.2_Silent_p.E159E|ARHGAP17_uc002dnc.2_Silent_p.E432E|ARHGAP17_uc010vcf.1_Silent_p.E253E	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	432	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27374122	27374122	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27374122T>G	uc002don.2	+	11	1691	c.1449T>G	c.(1447-1449)ACT>ACG	p.T483T	IL4R_uc002dop.3_Silent_p.T468T|IL4R_uc010bxy.2_Silent_p.T483T|IL4R_uc002doo.2_Silent_p.T323T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	483	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2																		---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27454346	27454346	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27454346G>A	uc002doq.1	+	5	649	c.416G>A	c.(415-417)CGC>CAC	p.R139H	IL21R_uc002dor.1_Missense_Mutation_p.R139H|IL21R_uc002dos.1_Missense_Mutation_p.R139H	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	139	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4								T	BCL6	NHL								---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27499693	27499693	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27499693G>A	uc002dov.1	-	23	3595	c.3555C>T	c.(3553-3555)TCC>TCT	p.S1185S	GTF3C1_uc002dou.2_Silent_p.S1185S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1185						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27689178	27689178	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27689178G>A	uc002dow.2	+	7	693	c.669G>A	c.(667-669)GTG>GTA	p.V223V	KIAA0556_uc002dox.1_Silent_p.V131V	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	223										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27761012	27761012	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27761012C>T	uc002dow.2	+	16	2755	c.2731C>T	c.(2731-2733)CGG>TGG	p.R911W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	911										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28604874	28604874	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28604874G>A	uc002dqg.1	-	5	739	c.388C>T	c.(388-390)CGC>TGC	p.R130C	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.R130C	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	130	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844210	28844210	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844210T>C	uc002drc.2	+	13	1827	c.1659_splice	c.e13+2	p.K553_splice	uc010vct.1_Intron|ATXN2L_uc010byl.1_Splice_Site_p.K529_splice|ATXN2L_uc002drb.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqy.2_Splice_Site_p.K553_splice|ATXN2L_uc002dra.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqz.2_Splice_Site_p.K553_splice|ATXN2L_uc010vdb.1_Splice_Site_p.K559_splice|ATXN2L_uc002dre.2_Splice_Site_p.K553_splice|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844557	28844557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844557G>A	uc002drc.2	+	14	2005	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.A589T|ATXN2L_uc002drb.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A613T|ATXN2L_uc002dra.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A613T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A619T|ATXN2L_uc002dre.2_Missense_Mutation_p.A613T|ATXN2L_uc002drf.2_Missense_Mutation_p.A22T|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	613						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28845679	28845679	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28845679C>A	uc002drc.2	+	17	2356	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqy.2_Missense_Mutation_p.P730T|ATXN2L_uc002dra.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqz.2_Missense_Mutation_p.P730T|ATXN2L_uc010vdb.1_Missense_Mutation_p.P736T|ATXN2L_uc002dre.2_Missense_Mutation_p.P730T|ATXN2L_uc002drf.2_Missense_Mutation_p.P139T|ATXN2L_uc002drg.2_Missense_Mutation_p.P12T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	730						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847720	28847720	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28847720G>A	uc002drc.2	+	22					uc010vct.1_Intron|ATXN2L_uc002drb.2_Intron|ATXN2L_uc002dqy.2_Silent_p.P1071P|ATXN2L_uc002dra.2_Intron|ATXN2L_uc002dqz.2_Intron|ATXN2L_uc010vdb.1_Intron|ATXN2L_uc002dre.2_Intron|ATXN2L_uc002drf.2_3'UTR|ATXN2L_uc002drg.2_3'UTR	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28883270	28883270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28883270C>T	uc002dri.2	+	8	1918	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P183P|SH2B1_uc002drj.2_Silent_p.P493P|SH2B1_uc002drk.2_Silent_p.P493P|SH2B1_uc002drl.2_Silent_p.P493P|SH2B1_uc010vdd.1_Silent_p.P157P|SH2B1_uc010vde.1_Silent_p.P493P|SH2B1_uc002drm.2_Silent_p.P493P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	493	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28916347	28916347	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28916347G>A	uc002drq.2	-	13	1675	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.R472C|RABEP2_uc010byn.2_Missense_Mutation_p.R507C	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	543					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931258	28931258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28931258A>G	uc002drq.2	-	3	329	c.281T>C	c.(280-282)ATC>ACC	p.I94T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.I23T|RABEP2_uc010byn.2_Missense_Mutation_p.I94T|RABEP2_uc002drr.2_Missense_Mutation_p.I94T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	94	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28995608	28995608	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28995608T>C	uc010vdi.1	+	13	1715	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.S452S|SPNS1_uc002dsa.2_Silent_p.S525S|SPNS1_uc002drz.2_Silent_p.S473S|SPNS1_uc010byp.2_Silent_p.S451S|SPNS1_uc010byq.1_Missense_Mutation_p.V400A|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	525					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0																		---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825671	29825671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29825671G>A	uc002due.3	+	3	1198	c.897G>A	c.(895-897)CAG>CAA	p.Q299Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Silent_p.Q299Q|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	299	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0																		---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891331	29891331	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29891331G>T	uc002duq.3	-	9	1667	c.1427C>A	c.(1426-1428)ACC>AAC	p.T476N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dur.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dus.3_Missense_Mutation_p.T362N|SEZ6L2_uc010vec.1_Missense_Mutation_p.T476N|SEZ6L2_uc010ved.1_Missense_Mutation_p.T432N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	476	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29990778	29990778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29990778T>C	uc002dva.1	+	8	1387	c.604T>C	c.(604-606)TAC>CAC	p.Y202H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvc.1_Missense_Mutation_p.Y202H|TAOK2_uc010bzm.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	202	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29992970	29992970	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29992970C>T	uc002dva.1	+						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Intron|TAOK2_uc002dvd.1_Missense_Mutation_p.P42L	NM_016151	NP_057235			TAO kinase 2 isoform 2						actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
DOC2A	8448	broad.mit.edu	37	16	30017638	30017638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30017638C>T	uc002dvm.2	-	11	1172	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.G356R|DOC2A_uc002dvn.2_Missense_Mutation_p.G358R|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.G358R|DOC2A_uc002dvp.2_Missense_Mutation_p.G358R|DOC2A_uc002dvq.2_Missense_Mutation_p.G358R	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	358	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2																		---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364758	30364758	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30364758A>G	uc002dxr.2	-	4	992	c.739T>C	c.(739-741)TCC>CCC	p.S247P	CD2BP2_uc002dxs.2_Missense_Mutation_p.S247P	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	247					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30507514	30507514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30507514G>A	uc002dyi.3	+	14	1776	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	ITGAL_uc002dyj.3_Missense_Mutation_p.D451N|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	534	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536163	30536163	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30536163T>C	uc002dyk.3	-	2	1474	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G	ZNF768_uc010vex.1_Missense_Mutation_p.E402G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E402G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	433	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30620959	30620959	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30620959C>T	uc002dyx.2	-	2	526	c.206G>A	c.(205-207)GGG>GAG	p.G69E	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30734045	30734045	+	Missense_Mutation	SNP	A	C	C	rs150246733	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30734045A>C	uc002dze.1	+	23	4253	c.3868A>C	c.(3868-3870)AGC>CGC	p.S1290R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S860R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1290	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30750183	30750183	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30750183G>A	uc002dze.1	+	34	9207	c.8822G>A	c.(8821-8823)CGA>CAA	p.R2941Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2736Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2941	Pro-rich.|A.T hook 2.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990644	30990644	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30990644G>A	uc002ead.1	+	14	4223	c.3537G>A	c.(3535-3537)CCG>CCA	p.P1179P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---
HSD3B7	80270	broad.mit.edu	37	16	30997914	30997914	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30997914T>C	uc002eaf.2	+						HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Intron	NM_025193	NP_079469			hydroxy-delta-5-steroid dehydrogenase, 3 beta-						bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0																		---	---	---	---
STX4	6810	broad.mit.edu	37	16	31049979	31049979	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31049979C>T	uc002eal.2	+						STX4_uc002eak.2_Intron|STX4_uc002eam.2_Intron	NM_004604	NP_004595			syntaxin 4						intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072650C>T	uc010caf.2	-	3	1956	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	ZNF668_uc002eao.2_Silent_p.R533R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	533	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072971	31072971	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072971C>T	uc010caf.2	-	3	1635	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	ZNF668_uc002eao.2_Silent_p.Q426Q	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31092587	31092587	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31092587A>C	uc002eap.2	+	2	5231	c.4942A>C	c.(4942-4944)ACC>CCC	p.T1648P		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
PRSS53	339105	broad.mit.edu	37	16	31095491	31095491	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31095491C>T	uc002eaq.2	-	10	1591	c.1591G>A	c.(1591-1593)GCC>ACC	p.A531T	PRSS53_uc002ear.2_Missense_Mutation_p.A325T	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	531					proteolysis	extracellular region	serine-type endopeptidase activity				0																		---	---	---	---
MYST1	84148	broad.mit.edu	37	16	31142181	31142181	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31142181G>A	uc002eay.2	+	10	1290	c.1272G>A	c.(1270-1272)GAG>GAA	p.E424E	MYST1_uc002eax.2_Silent_p.E424E|MYST1_uc002eaz.2_Silent_p.E266E|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	424					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1																		---	---	---	---
PRSS8	5652	broad.mit.edu	37	16	31143846	31143846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31143846G>A	uc002ebc.3	-	5	941	c.609C>T	c.(607-609)TGC>TGT	p.C203C	PRSS8_uc010vfe.1_Silent_p.C149C	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	203	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31383731	31383731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31383731C>T	uc002ebu.1	+	18	2260	c.2193C>T	c.(2191-2193)ACC>ACT	p.T731T	ITGAX_uc002ebt.2_Silent_p.T731T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	731	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31384582	31384582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31384582G>A	uc002ebu.1	+	20	2446	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ITGAX_uc002ebt.2_Silent_p.L793L	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	793	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31424522	31424522	+	Missense_Mutation	SNP	G	A	A	rs143512956		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31424522G>A	uc002ebv.1	+	16	2000	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	ITGAD_uc010cap.1_Missense_Mutation_p.A652T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	651	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31485969	31485969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31485969G>A	uc002ecd.1	+	7	631	c.605G>A	c.(604-606)GGC>GAC	p.G202D	TGFB1I1_uc002ece.1_Missense_Mutation_p.G185D|TGFB1I1_uc010caq.1_Missense_Mutation_p.G41D	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	202	Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31487398	31487398	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31487398C>A	uc002ecd.1	+	8	806	c.780C>A	c.(778-780)GCC>GCA	p.A260A	TGFB1I1_uc002ece.1_Silent_p.A243A|TGFB1I1_uc010caq.1_Silent_p.A99A	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926568	31926568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31926568A>G	uc002ecs.3	+	4	1207	c.998A>G	c.(997-999)CAT>CGT	p.H333R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	333	C2H2-type 2; atypical.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927166	31927166	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927166C>T	uc002ecs.3	+	4	1805	c.1596C>T	c.(1594-1596)TTC>TTT	p.F532F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	532	C2H2-type 8.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927343	31927343	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927343T>C	uc002ecs.3	+	4	1982	c.1773T>C	c.(1771-1773)CTT>CTC	p.L591L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	591	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927722	31927722	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927722T>G	uc002ecs.3	+	4	2361	c.2152T>G	c.(2152-2154)TGT>GGT	p.C718G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	718	C2H2-type 15.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	33647513	33647513	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:33647513G>T	uc010vga.1	-	1		c.30C>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h.																														---	---	---	---
ORC6L	23594	broad.mit.edu	37	16	46731415	46731415	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46731415A>C	uc002eeh.2	+	7	737	c.677A>C	c.(676-678)GAA>GCA	p.E226A		NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	226					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46998641	46998641	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46998641A>T	uc002eeo.2	-	6	798	c.656T>A	c.(655-657)GTC>GAC	p.V219D	DNAJA2_uc002eep.2_Missense_Mutation_p.V136D	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	219					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)																---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47497890	47497890	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47497890C>T	uc002eev.3	+						ITFG1_uc002eet.2_5'Flank|ITFG1_uc010vgh.1_5'Flank|PHKB_uc010vgi.1_Missense_Mutation_p.A14V|PHKB_uc002eeu.3_Missense_Mutation_p.A14V	NM_000293	NP_000284			phosphorylase kinase, beta isoform a						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48261759	48261759	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48261759G>T	uc002eff.1	-	3	703	c.353C>A	c.(352-354)CCT>CAT	p.P118H	ABCC11_uc002efg.1_Missense_Mutation_p.P118H|ABCC11_uc002efh.1_Missense_Mutation_p.P118H|ABCC11_uc010vgl.1_Missense_Mutation_p.P118H	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	118	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												Cerumen_Type				---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48381563	48381563	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48381563A>T	uc002efi.1	+	13	2173	c.2084A>T	c.(2083-2085)GAG>GTG	p.E695V	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E651V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	695					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0																		---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49313459	49313459	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49313459C>A	uc002efq.2	-	3	777	c.438G>T	c.(436-438)CAG>CAT	p.Q146H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	146	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49314824	49314824	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49314824G>A	uc002efq.2	-							NM_004352	NP_004343			cerebellin 1 precursor						nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49407988	49407988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49407988A>G	uc002efr.2	+	1	181	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	46										central_nervous_system(1)	1																		---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670423	49670423	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670423G>A	uc002efs.2	-	5	2938	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	ZNF423_uc010vgn.1_Silent_p.D763D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	880					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671085	49671085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49671085G>A	uc002efs.2	-	5	2276	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	ZNF423_uc010vgn.1_Missense_Mutation_p.R543W	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50118475	50118475	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50118475T>A	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50326626A>G	uc002egd.1	+	4	845	c.577A>G	c.(577-579)ACA>GCA	p.T193A	ADCY7_uc002egb.1_Missense_Mutation_p.T193A|ADCY7_uc002egc.1_Missense_Mutation_p.T193A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	193	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)													---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50583381	50583381	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50583381A>T	uc002egg.1	+	3	331	c.107A>T	c.(106-108)GAG>GTG	p.E36V		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	36					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667258	50667258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50667258A>G	uc002egg.1	+	10	1203	c.979A>G	c.(979-981)AAG>GAG	p.K327E		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	327					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707797	50707797	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707797A>G	uc002egk.2	-	4	644	c.471T>C	c.(469-471)CGT>CGC	p.R157R	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	157	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175895	51175895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51175895A>G	uc010vgs.1	-	2	269	c.238T>C	c.(238-240)TCC>CCC	p.S80P	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	80					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504299	53504299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53504299T>C	uc002ehi.3	+	16	2368	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	RBL2_uc002ehj.2_Silent_p.I460I|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	750	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53675335	53675335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53675335A>G	uc002ehp.2	-	18	2800	c.2736T>C	c.(2734-2736)GTT>GTC	p.V912V	RPGRIP1L_uc002eho.3_Silent_p.V912V|RPGRIP1L_uc010vgy.1_Silent_p.V912V|RPGRIP1L_uc010cbx.2_Silent_p.V912V|RPGRIP1L_uc010vgz.1_Silent_p.V912V	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	912					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
FTO	79068	broad.mit.edu	37	16	54145700	54145700	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:54145700T>A	uc002ehr.2	+	9	1613	c.1391T>A	c.(1390-1392)TTA>TAA	p.L464*	FTO_uc010vha.1_Nonsense_Mutation_p.L168*|FTO_uc010cbz.2_Nonsense_Mutation_p.L65*|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	464					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362679	55362679	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55362679G>T	uc002ehy.2	+	5	1322	c.789G>T	c.(787-789)GAG>GAT	p.E263D	IRX6_uc002ehx.2_Missense_Mutation_p.E263D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6																		---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55518028	55518028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55518028C>T	uc002ehz.3	+	3	792	c.481C>T	c.(481-483)CGA>TGA	p.R161*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R85*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R111*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55525713	55525713	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55525713G>A	uc002ehz.3	+	8	1492	c.1181G>A	c.(1180-1182)GGG>GAG	p.G394E	MMP2_uc010vhd.1_Missense_Mutation_p.G318E|MMP2_uc010ccc.2_Missense_Mutation_p.G344E|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	394	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55532275	55532275	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55532275C>T	uc002ehz.3	+	11	1995	c.1684C>T	c.(1684-1686)CCC>TCC	p.P562S	MMP2_uc010vhd.1_Missense_Mutation_p.P486S|MMP2_uc010ccc.2_Missense_Mutation_p.P512S|MMP2_uc002eia.3_Missense_Mutation_p.P59S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	562	Required for inhibitor TIMP2 binding.|Hemopexin-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55583280	55583280	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55583280C>A	uc002eie.3	+	10	1208	c.1027C>A	c.(1027-1029)CTG>ATG	p.L343M	LPCAT2_uc002eic.2_Missense_Mutation_p.L73M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	343	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0																		---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55719159	55719159	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55719159T>G	uc002eif.2	+	5	860	c.749T>G	c.(748-750)TTT>TGT	p.F250C	SLC6A2_uc010ccd.2_Missense_Mutation_p.F250C|SLC6A2_uc002eig.2_Missense_Mutation_p.F250C|SLC6A2_uc002eih.2_Missense_Mutation_p.F250C|SLC6A2_uc002eii.2_Missense_Mutation_p.F145C|SLC6A2_uc002eij.2_Missense_Mutation_p.F9C	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	250	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)													---	---	---	---
CES7	221223	broad.mit.edu	37	16	55899902	55899902	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55899902G>A	uc002eip.2	-	5	827	c.678C>T	c.(676-678)TCC>TCT	p.S226S	CES7_uc002eio.2_Silent_p.S226S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S120S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	226		Acyl-ester intermediate (By similarity).				extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
CES7	221223	broad.mit.edu	37	16	55903587	55903587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55903587C>T	uc002eip.2	-	4	636	c.487G>A	c.(487-489)GCT>ACT	p.A163T	CES7_uc002eio.2_Missense_Mutation_p.A163T|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.A57T	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56501107	56501107	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56501107C>T	uc002ejb.2	+	7	789	c.688C>T	c.(688-690)CGT>TGT	p.R230C	OGFOD1_uc002ejc.2_Missense_Mutation_p.R90C	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	230	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)													---	---	---	---
NUP93	9688	broad.mit.edu	37	16	56782236	56782236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56782236T>C	uc002eka.2	+	2	198	c.77T>C	c.(76-78)CTT>CCT	p.L26P		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	26					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2																		---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56974002	56974002	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56974002T>C	uc002eke.1	+	6	1159	c.750T>C	c.(748-750)GGT>GGC	p.G250G	HERPUD1_uc002ekf.1_Silent_p.G249G|HERPUD1_uc002ekg.1_Silent_p.G225G|HERPUD1_uc010cco.1_Splice_Site_p.G311_splice|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Silent_p.G68G	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	250	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0								T	ERG	prostate								---	---	---	---
CETP	1071	broad.mit.edu	37	16	56995923	56995923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56995923T>C	uc002eki.2	+	1	89	c.32T>C	c.(31-33)CTG>CCG	p.L11P	CETP_uc002ekj.2_Missense_Mutation_p.L11P	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	11					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57601918	57601918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57601918G>A	uc002elx.3	+	9	1057	c.972G>A	c.(970-972)GCG>GCA	p.A324A	GPR114_uc010vhr.1_Silent_p.A324A|GPR114_uc002ely.2_Silent_p.A324A	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	324	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1																		---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57722382	57722382	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57722382G>A	uc002emh.2	+	12					GPR97_uc010vhv.1_3'UTR|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_3'UTR	NM_170776	NP_740746			G protein-coupled receptor 97 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---
KATNB1	10300	broad.mit.edu	37	16	57790289	57790289	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57790289C>A	uc002eml.1	+	19	2114	c.1740C>A	c.(1738-1740)ACC>ACA	p.T580T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	580	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)																---	---	---	---
TEPP	374739	broad.mit.edu	37	16	58011825	58011825	+	Silent	SNP	G	A	A	rs34782585	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58011825G>A	uc002emw.3	+	2	307	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TEPP_uc002emv.3_Silent_p.A90A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	90						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031417	58031417	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58031417C>T	uc002emx.1	-	2	1376	c.753G>A	c.(751-753)ACG>ACA	p.T251T		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	251	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58200527	58200527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58200527T>C	uc002enc.2	-	9	930	c.788A>G	c.(787-789)CAC>CGC	p.H263R		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	263	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58218226	58218226	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58218226A>G	uc002enc.2	-							NM_001896	NP_001887			casein kinase 2, alpha prime polypeptide						axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58438412G>A	uc002enh.3	+	3	638	c.430G>A	c.(430-432)GGA>AGA	p.G144R	GINS3_uc010cdj.2_Missense_Mutation_p.G183R|GINS3_uc002enj.3_Missense_Mutation_p.G66R|GINS3_uc002eni.3_Missense_Mutation_p.R145Q	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	144					DNA replication	nucleus					0																		---	---	---	---
SETD6	79918	broad.mit.edu	37	16	58550154	58550154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58550154C>T	uc002ens.2	+	3	442	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SETD6_uc010cdl.2_Missense_Mutation_p.A128V|SETD6_uc002enr.2_Missense_Mutation_p.A104V|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.A52V	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	128	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58568040	58568040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58568040G>A	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589714	58589714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58589714G>A	uc002env.2	-	20	2871	c.2578C>T	c.(2578-2580)CCA>TCA	p.P860S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P855S|CNOT1_uc002enx.2_Missense_Mutation_p.P860S|CNOT1_uc002enz.1_Missense_Mutation_p.P289S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	860					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58712265	58712265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58712265T>C	uc002eod.1	-	5	976	c.583A>G	c.(583-585)AGG>GGG	p.R195G	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Missense_Mutation_p.R195G|SLC38A7_uc010vil.1_Missense_Mutation_p.R106G|SLC38A7_uc002eoe.1_Missense_Mutation_p.R195G	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	195	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65032464	65032464	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:65032464C>G	uc002eoi.2	-	4	957	c.523_splice	c.e4+1	p.G175_splice	CDH11_uc010cdn.2_Splice_Site|CDH11_uc002eoj.2_Splice_Site_p.G175_splice|CDH11_uc010vin.1_Splice_Site_p.G49_splice	NM_001797	NP_001788			cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)				T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66424419	66424419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)														---	---	---	---
TK2	7084	broad.mit.edu	37	16	66575795	66575795	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66575795G>A	uc002eos.2	-	3	569	c.344C>T	c.(343-345)GCG>GTG	p.A115V	TK2_uc010vip.1_5'UTR|TK2_uc002eor.2_Missense_Mutation_p.A42V|TK2_uc010cdq.2_Missense_Mutation_p.A42V|TK2_uc010cdr.2_Missense_Mutation_p.A24V|TK2_uc010viq.1_Missense_Mutation_p.A115V|TK2_uc010vir.1_Intron	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)														---	---	---	---
CMTM2	146225	broad.mit.edu	37	16	66613716	66613716	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66613716G>T	uc002ept.2	+	1	366	c.206G>T	c.(205-207)CGC>CTC	p.R69L	CMTM2_uc010cdu.2_Missense_Mutation_p.R69L	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	69					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)														---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66764088	66764088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66764088A>G	uc002eqb.1	-	8	999	c.968T>C	c.(967-969)TTA>TCA	p.L323S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L246S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	323					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)														---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180991	67180991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67180991C>T	uc002erc.2	+	17	1310	c.1226C>T	c.(1225-1227)CCC>CTC	p.P409L	C16orf70_uc002erd.2_Missense_Mutation_p.P409L|uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	409										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)														---	---	---	---
NOL3	8996	broad.mit.edu	37	16	67208597	67208597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67208597A>G	uc010vjd.1	+	3	552	c.545A>G	c.(544-546)CAT>CGT	p.H182R	NOL3_uc010vjc.1_Silent_p.T185T|NOL3_uc002erp.2_Silent_p.T123T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	120					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67381447	67381447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67381447T>C	uc002esv.2	+	4	460	c.441T>C	c.(439-441)TTT>TTC	p.F147F	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Silent_p.F26F|LRRC36_uc002esx.2_Silent_p.F26F|LRRC36_uc010vjk.1_Silent_p.F26F|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	147											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575559	67575559	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575559C>A	uc010vjp.1	+	12	1110	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM65A_uc010cei.1_Silent_p.P160P|FAM65A_uc002eth.2_Silent_p.P318P|FAM65A_uc010cej.2_Silent_p.P321P|FAM65A_uc002eti.1_Silent_p.P281P|FAM65A_uc010vjq.1_Silent_p.P332P|FAM65A_uc002etj.1_Silent_p.P317P|FAM65A_uc002etk.2_Silent_p.P317P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	322						cytoplasm	binding	p.T338S(1)		ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575891	67575891	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575891G>T	uc010vjp.1	+	13	1358	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	FAM65A_uc010cei.1_Missense_Mutation_p.R243M|FAM65A_uc002eth.2_Missense_Mutation_p.R401M|FAM65A_uc010cej.2_Missense_Mutation_p.R404M|FAM65A_uc002eti.1_Missense_Mutation_p.R364M|FAM65A_uc010vjq.1_Missense_Mutation_p.R415M|FAM65A_uc002etj.1_Missense_Mutation_p.R400M|FAM65A_uc002etk.2_Missense_Mutation_p.R400M	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	405						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693469	67693469	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67693469C>A	uc002etq.3	-	4	979	c.642G>T	c.(640-642)ACG>ACT	p.T214T	ACD_uc002etp.3_Silent_p.T211T|ACD_uc002etr.3_Silent_p.T211T|ACD_uc010vjt.1_Nonsense_Mutation_p.G234*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	214					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763897	67763897	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67763897G>A	uc002eud.2	-	8	1058	c.942C>T	c.(940-942)ACC>ACT	p.T314T	RANBP10_uc010ceo.2_Silent_p.T85T|RANBP10_uc010vju.1_Silent_p.T258T|RANBP10_uc010vjv.1_Silent_p.T197T|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	314	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67911221	67911221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67911221G>A	uc002eur.2	+	5	719	c.553G>A	c.(553-555)GCG>ACG	p.A185T	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.A117T|EDC4_uc010ces.1_Missense_Mutation_p.A28T|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	185	WD 1.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67915267	67915267	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67915267G>T	uc002eur.2	+	20	2902	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	EDC4_uc010cer.2_Missense_Mutation_p.K531N|EDC4_uc002eus.2_Missense_Mutation_p.K642N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	912					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
NRN1L	123904	broad.mit.edu	37	16	67919655	67919655	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67919655C>T	uc002euu.2	+	2	136	c.110C>T	c.(109-111)GCG>GTG	p.A37V	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	37						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)														---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67964403	67964403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67964403C>A	uc002euw.2	-	5	417	c.407G>T	c.(406-408)CGC>CTC	p.R136L		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)														---	---	---	---
PSMB10	5699	broad.mit.edu	37	16	67968708	67968708	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67968708G>T	uc002eux.1	-	7	803	c.702C>A	c.(700-702)CCC>CCA	p.P234P	CTRL_uc002euw.2_5'Flank	NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	234					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)														---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67979673	67979673	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67979673C>T	uc002euz.2	-	21	2982	c.2841G>A	c.(2839-2841)GAG>GAA	p.E947E	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.E941E|SLC12A4_uc010vkh.1_Silent_p.E916E|SLC12A4_uc010vki.1_Silent_p.E941E|SLC12A4_uc010vkj.1_Silent_p.E949E|SLC12A4_uc002eva.2_Silent_p.E947E|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	947	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68014116	68014116	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68014116G>T	uc002evc.3	-	1	337	c.243C>A	c.(241-243)ACC>ACA	p.T81T	DPEP3_uc010cex.2_Silent_p.T81T	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	56					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)														---	---	---	---
ESRP2	80004	broad.mit.edu	37	16	68264194	68264194	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68264194G>C	uc010cfa.1	-	15	2307	c.2119C>G	c.(2119-2121)CTG>GTG	p.L707V	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.L697V	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	707					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1																OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338046	68338046	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68338046G>A	uc002evw.1	-	3	580	c.561C>T	c.(559-561)CGC>CGT	p.R187R		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	187					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373745	68373745	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68373745T>C	uc002evy.1	+	9	1077	c.801T>C	c.(799-801)TTT>TTC	p.F267F	PRMT7_uc002evx.1_Silent_p.F267F|PRMT7_uc010vlg.1_Silent_p.F217F|PRMT7_uc002evz.1_Silent_p.F113F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	267					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68397447	68397447	+	Missense_Mutation	SNP	G	A	A	rs75117374	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68397447G>A	uc002ewa.2	-	7	2083	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	SMPD3_uc010cfe.2_Missense_Mutation_p.T554M|SMPD3_uc010vlh.1_Missense_Mutation_p.T546M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	554	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)													---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68712677	68712677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68712677G>A	uc002ewf.2	+	6	1691	c.559G>A	c.(559-561)GCT>ACT	p.A187T	CDH3_uc010vli.1_Missense_Mutation_p.A132T	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	187	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68716321	68716321	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68716321T>C	uc002ewf.2	+	9	2245	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	CDH3_uc010vli.1_Silent_p.G316G	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH1	999	broad.mit.edu	37	16	68857436	68857436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68857436G>A	uc002ewg.1	+	13	2195	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A630T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	691	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69279604	69279604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69279604G>A	uc002ewu.2	+	2	700	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	227	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69334808	69334808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69334808G>A	uc002ewu.2	+	7	1624	c.1604G>A	c.(1603-1605)CGT>CAT	p.R535H	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	535	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
TERF2	7014	broad.mit.edu	37	16	69401102	69401102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69401102C>T	uc002exd.2	-	7	947	c.822G>A	c.(820-822)AGG>AGA	p.R274R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	274					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)																---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727557	69727557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69727557C>T	uc002exm.1	+	12	4983	c.3775C>T	c.(3775-3777)CAA>TAA	p.Q1259*	NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1277*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1276*|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1259	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70154527	70154527	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70154527G>T	uc002eyf.1	+	3	1089	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	44					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)														---	---	---	---
AARS	16	broad.mit.edu	37	16	70286780	70286780	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70286780G>A	uc002eyn.1	-	21	2861	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Silent_p.S763S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	917					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AARS	16	broad.mit.edu	37	16	70302259	70302259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70302259C>T	uc002eyn.1	-	8	1096	c.986G>A	c.(985-987)CGC>CAC	p.R329H	AARS_uc010vlu.1_Missense_Mutation_p.R159H	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	329			R -> H (in CMT2N).		alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
AARS	16	broad.mit.edu	37	16	70304204	70304204	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70304204G>A	uc002eyn.1	-	6	821	c.711C>T	c.(709-711)AGC>AGT	p.S237S	AARS_uc010vlu.1_Silent_p.S67S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	237					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
DDX19A	55308	broad.mit.edu	37	16	70350004	70350004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70350004G>A	uc002eys.2	+	4	422	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	DDX19B_uc010vly.1_Missense_Mutation_p.R98Q|DDX19B_uc010vlv.1_Missense_Mutation_p.R103Q|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyo.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyp.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR|uc002eyt.2_RNA	NM_007242	NP_009173	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	97	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)																---	---	---	---
ST3GAL2	6483	broad.mit.edu	37	16	70429011	70429011	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70429011G>T	uc002eyw.2	-	2	2515	c.407C>A	c.(406-408)CCT>CAT	p.P136H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P136H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	136	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
FUK	197258	broad.mit.edu	37	16	70503129	70503129	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70503129C>G	uc002eyy.2	+	10	916	c.858C>G	c.(856-858)CCC>CCG	p.P286P	FUK_uc010cft.2_Silent_p.P318P|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70588357	70588357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70588357G>A	uc002ezf.2	+	12	1622	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	471					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70590845	70590845	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70590845T>C	uc002ezf.2	+	15	2134	c.1923T>C	c.(1921-1923)TGT>TGC	p.C641C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	641					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70871608	70871608	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70871608C>A	uc002ezr.2	-	77	13352	c.13224G>T	c.(13222-13224)AAG>AAT	p.K4408N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4409										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70986455	70986455	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70986455T>A	uc002ezr.2	-	41	6525	c.6397A>T	c.(6397-6399)ACT>TCT	p.T2133S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2134										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71218785	71218785	+	Missense_Mutation	SNP	C	T	T	rs148583032		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71218785C>T	uc002ezr.2	-	3	372	c.244G>A	c.(244-246)GAA>AAA	p.E82K	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.E82K|HYDIN_uc010vmc.1_Missense_Mutation_p.E99K|HYDIN_uc010vmd.1_Missense_Mutation_p.E109K|HYDIN_uc002ezw.3_Missense_Mutation_p.E99K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	82								p.E82K(2)		ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
TAT	6898	broad.mit.edu	37	16	71605530	71605530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71605530A>G	uc002fap.2	-	7	837	c.738T>C	c.(736-738)GCT>GCC	p.A246A		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	246					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)													---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71663380	71663380	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71663380A>G	uc002fat.2	+	2	641	c.578A>G	c.(577-579)TAC>TGC	p.Y193C	MARVELD3_uc002fas.1_Missense_Mutation_p.Y193C|MARVELD3_uc002fau.2_Missense_Mutation_p.Y193C|MARVELD3_uc010cge.2_Missense_Mutation_p.T139A	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	193	MARVEL.|Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71683225	71683225	+	Silent	SNP	C	T	T	rs148712567	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71683225C>T	uc002fax.2	-	18	3546	c.3540G>A	c.(3538-3540)GAG>GAA	p.E1180E	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.E1113E	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1180						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HPR	3250	broad.mit.edu	37	16	72110871	72110871	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72110871C>T	uc002fby.2	+	5	968	c.938C>T	c.(937-939)GCG>GTG	p.A313V	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	313	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)																---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72131586	72131586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72131586T>C	uc002fcb.2	+	4	877	c.522T>C	c.(520-522)GAT>GAC	p.D174D	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	174					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72153953	72153953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72153953T>C	uc002fcc.3	-	20	2991	c.2819A>G	c.(2818-2820)GAA>GGA	p.E940G	PMFBP1_uc002fcd.2_Missense_Mutation_p.E935G|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E810G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	940	Potential.									ovary(2)	2		Ovarian(137;0.179)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821778	72821778	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72821778A>G	uc002fck.2	-	10	11070	c.10397T>C	c.(10396-10398)GTC>GCC	p.V3466A	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2552A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3466					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828653	72828653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72828653C>T	uc002fck.2	-	9	8601	c.7928G>A	c.(7927-7929)CGT>CAT	p.R2643H	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1729H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2643	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72830751	72830751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72830751C>T	uc002fck.2	-	9	6503	c.5830G>A	c.(5830-5832)GCC>ACC	p.A1944T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1030T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1944					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831787	72831787	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72831787A>G	uc002fck.2	-	9	5467	c.4794T>C	c.(4792-4794)TGT>TGC	p.C1598C	ZFHX3_uc002fcl.2_Silent_p.C684C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1598	C2H2-type 16.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72832395	72832395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72832395G>A	uc002fck.2	-	9	4859	c.4186C>T	c.(4186-4188)CGC>TGC	p.R1396C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R482C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72993166	72993166	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72993166G>T	uc002fck.2	-	2	1552	c.879C>A	c.(877-879)TAC>TAA	p.Y293*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	293	C2H2-type 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74334090	74334090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74334090C>T	uc002fcq.2	+	2	284	c.152C>T	c.(151-153)TCG>TTG	p.S51L	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	51	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0																		---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74503938	74503938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74503938A>G	uc002fcy.3	-	16	2313	c.2263T>C	c.(2263-2265)TTT>CTT	p.F755L	GLG1_uc002fcx.2_Missense_Mutation_p.F755L|GLG1_uc002fcw.3_Missense_Mutation_p.F744L|GLG1_uc002fcz.3_Missense_Mutation_p.F172L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	755	Cys-rich GLG1 11.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2																		---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74729205	74729205	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74729205G>A	uc002fdb.2	-	2	892	c.451C>T	c.(451-453)CTA>TTA	p.L151L	MLKL_uc002fdc.2_Silent_p.L151L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	151							ATP binding|protein binding|protein kinase activity			stomach(2)	2																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563326	75563326	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563326T>C	uc002fei.2	-	3	2352	c.957A>G	c.(955-957)CCA>CCG	p.P319P	CHST5_uc002fej.1_Silent_p.P325P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	319	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563832	75563832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563832G>A	uc002fei.2	-	3	1846	c.451C>T	c.(451-453)CTG>TTG	p.L151L	CHST5_uc002fej.1_Silent_p.L157L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	151	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
KARS	3735	broad.mit.edu	37	16	75675553	75675553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75675553C>T	uc002feq.2	-	2	179	c.131G>A	c.(130-132)AGT>AAT	p.S44N	KARS_uc002fer.2_Missense_Mutation_p.S72N|KARS_uc002fes.2_Translation_Start_Site|KARS_uc010cgz.2_5'Flank|KARS_uc010cha.1_Missense_Mutation_p.S81N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	44				Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)													---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76350303	76350303	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76350303C>A	uc002feu.1	+						CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002fex.1_Missense_Mutation_p.L30M|CNTNAP4_uc002few.2_Intron	NM_033401	NP_207837			cell recognition protein CASPR4 isoform 1						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77227572	77227572	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77227572C>T	uc002fez.2	+	3	703	c.373C>T	c.(373-375)CGG>TGG	p.R125W	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	125							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228320	77228320	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228320G>A	uc002fez.2	+	4	894	c.564G>A	c.(562-564)GGG>GGA	p.G188G	MON1B_uc010vnf.1_Silent_p.G79G|MON1B_uc010vng.1_Silent_p.G42G|MON1B_uc002ffa.2_Silent_p.G68G	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	188							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228534	77228534	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228534G>A	uc002fez.2	+	4	1108	c.778G>A	c.(778-780)GCA>ACA	p.A260T	MON1B_uc010vnf.1_Missense_Mutation_p.A151T|MON1B_uc010vng.1_Missense_Mutation_p.A114T|MON1B_uc002ffa.2_Missense_Mutation_p.A140T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	260							protein binding				0																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77369677	77369677	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77369677T>C	uc002ffc.3	-	12	2254	c.1835A>G	c.(1834-1836)CAG>CGG	p.Q612R	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q200R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q308R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	612	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77401590	77401590	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77401590A>T	uc002ffc.3	-	4	945	c.526T>A	c.(526-528)TTC>ATC	p.F176I	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	176					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466602	78466602	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:78466602G>A	uc002ffk.2	+	8	1134	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	WWOX_uc010vnk.1_Missense_Mutation_p.V224M|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	337	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)														---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80654839	80654839	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80654839G>A	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80667142	80667142	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80667142A>G	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80718775	80718775	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80718775T>C	uc002ffs.2	-	2	381	c.276A>G	c.(274-276)AGA>AGG	p.R92R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	92						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
C16orf61	56942	broad.mit.edu	37	16	81030908	81030908	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81030908T>C	uc002ffu.2	-						C16orf61_uc002ffv.2_Intron	NM_020188	NP_064573			hypothetical protein LOC56942												0																		---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81077197	81077197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81077197G>A	uc002ffz.1	+	4	1112	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATMIN_uc002fga.2_Missense_Mutation_p.S207N|ATMIN_uc010vnn.1_Missense_Mutation_p.S136N|ATMIN_uc002fgb.1_Missense_Mutation_p.S207N	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	365	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81097360	81097360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81097360C>T	uc002fgc.3	-	3	460	c.201G>A	c.(199-201)TGG>TGA	p.W67*	C16orf46_uc010chf.2_Nonsense_Mutation_p.W67*|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	67											0																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81211477	81211477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81211477A>G	uc002fgh.1	-	14	2372	c.2372T>C	c.(2371-2373)TTT>TCT	p.F791S	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.F106S|PKD1L2_uc002fgj.2_Missense_Mutation_p.F791S|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	791	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81733378	81733378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81733378C>T	uc002fgp.2	+	15	1799	c.1727C>T	c.(1726-1728)GCA>GTA	p.A576V	CMIP_uc002fgq.1_Missense_Mutation_p.A482V|CMIP_uc010vnq.1_Missense_Mutation_p.A389V|CMIP_uc002fgr.1_Missense_Mutation_p.A423V	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	542						cytoplasm|nucleus					0																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81891910	81891910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81891910A>G	uc002fgt.2	+	4	532	c.380A>G	c.(379-381)AAA>AGA	p.K127R	PLCG2_uc010chg.1_Missense_Mutation_p.K127R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	127	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83704437	83704437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83704437A>G	uc002fgx.2	+	9	1264	c.1144A>G	c.(1144-1146)AAT>GAT	p.N382D	CDH13_uc010vns.1_Missense_Mutation_p.N429D|CDH13_uc010vnt.1_Missense_Mutation_p.N128D|CDH13_uc010vnu.1_Missense_Mutation_p.N343D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	382	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83948723	83948723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83948723A>G	uc002fgz.2	+	5	1131	c.1111A>G	c.(1111-1113)ATT>GTT	p.I371V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	371					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0																		---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998695	83998695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83998695G>A	uc002fha.2	+	7	1149	c.766G>A	c.(766-768)GGG>AGG	p.G256R	OSGIN1_uc002fhb.2_Missense_Mutation_p.G173R|OSGIN1_uc002fhc.2_Missense_Mutation_p.G173R	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	256					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0																		---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050247	84050247	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84050247G>A	uc002fhg.1	-	8	1039	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	347					amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84101321	84101321	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84101321A>G	uc002fhi.2	-	16	2681	c.2179T>C	c.(2179-2181)TAC>CAC	p.Y727H	MBTPS1_uc002fhh.2_Missense_Mutation_p.Y231H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	727	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84103626	84103626	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84103626T>C	uc002fhi.2	-	14	2302	c.1800A>G	c.(1798-1800)GAA>GAG	p.E600E	MBTPS1_uc002fhh.2_Silent_p.E104E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	600	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84214743	84214743	+	Missense_Mutation	SNP	G	A	A	rs78476640	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84214743G>A	uc002fhn.2	-	11	1520	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	TAF1C_uc002fhm.2_Missense_Mutation_p.S338L|TAF1C_uc010vnx.1_Missense_Mutation_p.S405L|TAF1C_uc010vny.1_Missense_Mutation_p.S22L|TAF1C_uc010vnz.1_Missense_Mutation_p.S99L|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.S99L|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	431					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1																		---	---	---	---
WFDC1	58189	broad.mit.edu	37	16	84351925	84351925	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84351925G>T	uc002fhw.2	+	3	562	c.385G>T	c.(385-387)GGC>TGC	p.G129C	WFDC1_uc002fhv.2_Missense_Mutation_p.G129C	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	129					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1																		---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84474490	84474490	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84474490G>T	uc002fhx.2	+	14	1326	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	ATP2C2_uc010chj.2_Missense_Mutation_p.G413W|ATP2C2_uc002fhy.2_Missense_Mutation_p.G430W|ATP2C2_uc002fhz.2_Missense_Mutation_p.G262W	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	413	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
ZDHHC7	55625	broad.mit.edu	37	16	85024046	85024046	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85024046T>C	uc002fiq.2	-	3	532	c.179A>G	c.(178-180)TAT>TGT	p.Y60C	ZDHHC7_uc010voi.1_Missense_Mutation_p.Y60C|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	60	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86545019	86545019	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86546570	86546570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86546570A>C	uc002fjl.2	+	2	1062	c.1019A>C	c.(1018-1020)GAC>GCC	p.D340A		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	340					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86601011	86601011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86601011T>C	uc002fjq.2	+	1	155	c.70T>C	c.(70-72)TAC>CAC	p.Y24H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	24					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0														Late-onset_Hereditary_Lymphedema				---	---	---	---
FOXL1	2300	broad.mit.edu	37	16	86612547	86612547	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86612547A>G	uc002fjr.2	+	1	433	c.218A>G	c.(217-219)AAC>AGC	p.N73S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	73	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1																		---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87871474	87871474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87871474G>A	uc002fkm.2	-	7	1189	c.1117C>T	c.(1117-1119)CCC>TCC	p.P373S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	373					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)														---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88697554	88697554	+	Silent	SNP	G	A	A	rs142280171	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88697554G>A	uc002fky.2	+	18	2909	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ZC3H18_uc010voz.1_Silent_p.T927T|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Silent_p.T173T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	903						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88780044	88780044	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88780044G>A	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88902599	88902599	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88902599T>A	uc002fly.3	-						GALNS_uc010cid.2_Intron|GALNS_uc002flz.3_Intron	NM_000512	NP_000503			galactosamine (N-acetyl)-6-sulfate sulfatase							lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)													---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923569	88923569	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923569G>A	uc002fmc.2	+	1	64	c.11G>A	c.(10-12)TGC>TAC	p.C4Y	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fme.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	4					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923595	88923595	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923595C>A	uc002fmc.2	+						GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Intron|TRAPPC2L_uc002fme.3_Intron|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293			trafficking protein particle complex 2-like						ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294580	89294580	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89294580A>G	uc002fmv.2	+	6	2139	c.1800A>G	c.(1798-1800)ACA>ACG	p.T600T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T558T|ZNF778_uc010vpg.1_Silent_p.T363T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	600	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)														---	---	---	---
SPATA2L	124044	broad.mit.edu	37	16	89764596	89764596	+	Missense_Mutation	SNP	C	A	A	rs35826409	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89764596C>A	uc002foj.2	-	3	486	c.421G>T	c.(421-423)GCC>TCC	p.A141S	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	141											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89776229	89776229	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89776229T>C	uc002fom.1	-	11	1469	c.1344A>G	c.(1342-1344)GAA>GAG	p.E448E	C16orf7_uc002fol.1_Silent_p.E378E|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	448					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89783004	89783004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89783004A>G	uc002fom.1	-	4	422	c.297T>C	c.(295-297)CCT>CCC	p.P99P	C16orf7_uc002fol.1_Silent_p.P29P|uc002fon.1_RNA|uc002foo.1_5'UTR	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	99					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89836392	89836392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89836392G>A	uc002fou.1	-	26	2399	c.2357C>T	c.(2356-2358)GCC>GTC	p.A786V	FANCA_uc010vpn.1_Missense_Mutation_p.A786V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	786					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)				D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89977618	89977618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89977618A>G	uc002fpb.2	+	18	2085	c.2003A>G	c.(2002-2004)GAC>GGC	p.D668G	TCF25_uc002fpc.2_Silent_p.R472R|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	668					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)														---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90029779	90029779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90029779C>A	uc002fpn.1	+	10	1202	c.1113C>A	c.(1111-1113)CGC>CGA	p.R371R	DEF8_uc002fpo.1_Silent_p.R310R|DEF8_uc002fpp.1_Silent_p.R300R|DEF8_uc010vpq.1_Silent_p.R250R|DEF8_uc010vpr.1_Silent_p.R310R|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	371					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)														---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90099232	90099232	+	Missense_Mutation	SNP	G	A	A	rs145845004		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90099232G>A	uc002fqi.1	+	4	517	c.395G>A	c.(394-396)CGC>CAC	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)														---	---	---	---
RPH3AL	9501	broad.mit.edu	37	17	177323	177323	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:177323G>A	uc002frd.1	-	1	56	c.12C>T	c.(10-12)ACC>ACT	p.T4T	RPH3AL_uc010vpy.1_Silent_p.T4T|RPH3AL_uc002fre.1_Silent_p.T4T|RPH3AL_uc002frf.1_Silent_p.T4T|RPH3AL_uc010cjl.1_Silent_p.T4T	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	4					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)														---	---	---	---
VPS53	55275	broad.mit.edu	37	17	534801	534801	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:534801G>A	uc002frn.2	-	8	823	c.676C>T	c.(676-678)CAG>TAG	p.Q226*	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q226*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q197*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q28*|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	226					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	663486	663486	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:663486A>C	uc002frv.2	-						GLOD4_uc002frt.2_Intron|GLOD4_uc002fru.2_Intron|GLOD4_uc010vqc.1_Intron	NM_016080	NP_057164			glyoxalase domain containing 4							mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
NXN	64359	broad.mit.edu	37	17	704358	704358	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:704358T>A	uc002fsa.2	-	8	1231	c.1139A>T	c.(1138-1140)GAC>GTC	p.D380V	NXN_uc010vqd.1_Missense_Mutation_p.D71V|NXN_uc002frz.2_Missense_Mutation_p.D131V|NXN_uc010vqe.1_Missense_Mutation_p.D272V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	380					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)														---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	902817	902817	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:902817T>G	uc002fsc.2	+	3	527	c.501T>G	c.(499-501)GGT>GGG	p.G167G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	167				IG -> YW (in Ref. 1; AAD40106).	transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914003	914003	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914003C>T	uc002fsd.2	-	20	2312	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	ABR_uc002fse.2_Silent_p.T688T|ABR_uc010vqf.1_Silent_p.T185T|ABR_uc010vqg.1_Silent_p.T516T|ABR_uc002fsg.2_Silent_p.T697T|ABR_uc002fsh.1_Silent_p.T342T|ABR_uc002fsf.2_Silent_p.T271T	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	734	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914062	914062	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914062T>C	uc002fsd.2	-	20	2253	c.2143A>G	c.(2143-2145)AAC>GAC	p.N715D	ABR_uc002fse.2_Missense_Mutation_p.N669D|ABR_uc010vqf.1_Missense_Mutation_p.N166D|ABR_uc010vqg.1_Missense_Mutation_p.N497D|ABR_uc002fsg.2_Missense_Mutation_p.N678D|ABR_uc002fsh.1_Missense_Mutation_p.N323D|ABR_uc002fsf.2_Missense_Mutation_p.N252D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	953410	953410	+	Silent	SNP	G	A	A	rs141242979	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:953410G>A	uc002fsd.2	-	16	1781	c.1671C>T	c.(1669-1671)ATC>ATT	p.I557I	ABR_uc002fse.2_Silent_p.I511I|ABR_uc010vqg.1_Silent_p.I339I|ABR_uc002fsg.2_Silent_p.I520I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	557	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1576438	1576438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1576438C>T	uc002fte.2	-	24	3825	c.3711G>A	c.(3709-3711)ATG>ATA	p.M1237I		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1237						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1579343	1579343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1579343T>C	uc002fte.2	-	18	2672	c.2558A>G	c.(2557-2559)AAG>AGG	p.K853R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	853						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1634045	1634045	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1634045G>A	uc002fti.2	+						WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002ftj.2_Intron|WDR81_uc010vqq.1_Intron	NM_001163811	NP_001157283			WD repeat domain 81 isoform 4											skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1640894	1640894	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1640894G>A	uc002fti.2	+	10	2321	c.2060G>A	c.(2059-2061)GGC>GAC	p.G687D	WDR81_uc002fth.2_Missense_Mutation_p.G863D|WDR81_uc010vqp.1_Missense_Mutation_p.G711D|WDR81_uc002ftj.2_Missense_Mutation_p.G1914D|WDR81_uc010vqq.1_Missense_Mutation_p.G545D	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	687										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1686415	1686415	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1686415A>G	uc002ftm.3	-	10	2343	c.2175T>C	c.(2173-2175)AGT>AGC	p.S725S	SMYD4_uc002ftn.1_Silent_p.S580S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	725							zinc ion binding			skin(3)|kidney(2)	5																		---	---	---	---
METT10D	79066	broad.mit.edu	37	17	2323876	2323876	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2323876T>C	uc002fut.2	-	10	1225	c.1077A>G	c.(1075-1077)CGA>CGG	p.R359R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R141R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	359							methyltransferase activity				0																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604436	2604436	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604436T>C	uc002fuy.1	-	7	995	c.909A>G	c.(907-909)AAA>AAG	p.K303K	KIAA0664_uc002fux.1_Silent_p.K235K	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	303							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604780	2604780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604780C>T	uc002fuy.1	-	6	751	c.665G>A	c.(664-666)GGA>GAA	p.G222E	KIAA0664_uc002fux.1_Missense_Mutation_p.G154E	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	222							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2605316	2605316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2605316G>A	uc002fuy.1	-	4	483	c.397C>T	c.(397-399)CGC>TGC	p.R133C	KIAA0664_uc002fux.1_Missense_Mutation_p.R65C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	133							binding			breast(2)	2																		---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2867364	2867364	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2867364T>C	uc010ckd.2	+	7	582	c.492_splice	c.e7+2	p.K164_splice	RAP1GAP2_uc010cke.2_Splice_Site_p.K149_splice	NM_015085	NP_055900			RAP1 GTPase activating protein 2 isoform 1						regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1																		---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195465	3195465	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3195465G>A	uc002fvh.1	-	1	412	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3																		---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3417315	3417315	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3417315A>T	uc002fvt.1	-						SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_Intron|TRPV3_uc010vrh.1_Intron|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Intron|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Intron|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Intron	NM_145068	NP_659505			transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3483809	3483809	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3483809G>T	uc010vrr.1	-	9	2016	c.1489C>A	c.(1489-1491)CTG>ATG	p.L497M	TRPV1_uc010vro.1_Missense_Mutation_p.L508M|TRPV1_uc010vrp.1_Missense_Mutation_p.L437M|TRPV1_uc010vrq.1_Missense_Mutation_p.L495M|TRPV1_uc010vrs.1_Missense_Mutation_p.L497M|TRPV1_uc010vrt.1_Missense_Mutation_p.L497M|TRPV1_uc010vru.1_Missense_Mutation_p.L497M	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	497	Helical; (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3494585	3494585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3494585C>T	uc010vrr.1	-	2	874	c.347G>A	c.(346-348)AGG>AAG	p.R116K	TRPV1_uc010vro.1_Missense_Mutation_p.R116K|TRPV1_uc010vrp.1_Missense_Mutation_p.R116K|TRPV1_uc010vrq.1_Missense_Mutation_p.G91R|TRPV1_uc010vrs.1_Missense_Mutation_p.R116K|TRPV1_uc010vrt.1_Missense_Mutation_p.R116K|TRPV1_uc010vru.1_Missense_Mutation_p.R116K	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	116	Cytoplasmic (Potential).|ANK 1.				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
P2RX5	5026	broad.mit.edu	37	17	3599262	3599262	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3599262A>C	uc002fwi.2	-	1	322	c.38T>G	c.(37-39)CTG>CGG	p.L13R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.L13R|P2RX5_uc002fwj.2_Missense_Mutation_p.L13R|P2RX5_uc002fwk.2_Missense_Mutation_p.L13R|P2RX5_uc002fwl.2_Missense_Mutation_p.L13R|P2RX5_uc002fwm.1_Missense_Mutation_p.L13R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	13	Cytoplasmic (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0																		---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3660314	3660314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3660314G>A	uc002fwo.3	-	10	1234	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	379	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)														---	---	---	---
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3779601G>A	uc002fwt.2	-	10	1006	c.912C>T	c.(910-912)GAC>GAT	p.D304D	CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)														---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4020355	4020355	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4020355T>C	uc002fxe.2	-	3	669	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	ZZEF1_uc002fxk.1_Missense_Mutation_p.Y202C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	202							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
SPNS2	124976	broad.mit.edu	37	17	4436605	4436605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4436605C>T	uc002fxx.2	+	8	1370	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	386					lipid transport|transmembrane transport	integral to membrane					0																		---	---	---	---
GGT6	124975	broad.mit.edu	37	17	4463748	4463748	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4463748C>A	uc002fyd.3	-	1	129	c.69G>T	c.(67-69)GAG>GAT	p.E23D	GGT6_uc010vsb.1_5'Flank|GGT6_uc002fyc.3_Missense_Mutation_p.E23D|GGT6_uc010vsc.1_Missense_Mutation_p.E23D	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	23	Cytoplasmic (Potential).|Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1																		---	---	---	---
CXCL16	58191	broad.mit.edu	37	17	4641712	4641712	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4641712C>T	uc002fyr.3	-	3	881	c.349G>A	c.(349-351)GAT>AAT	p.D117N	CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Missense_Mutation_p.D117N|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	98	Extracellular (Potential).|Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0																		---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647966	4647966	+	Missense_Mutation	SNP	G	A	A	rs138988876		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4647966G>A	uc002fyt.2	+	10	1652	c.1613G>A	c.(1612-1614)CGG>CAG	p.R538Q	ZMYND15_uc002fyv.2_Missense_Mutation_p.R577Q|ZMYND15_uc002fyu.2_Missense_Mutation_p.R577Q	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	538							zinc ion binding				0																		---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4711687	4711687	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4711687T>C	uc002fzc.2	+	4	460	c.359T>C	c.(358-360)TTG>TCG	p.L120S	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.L120S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	120	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4721823	4721823	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4721823C>T	uc002fzc.2	+	20	2145	c.2044C>T	c.(2044-2046)CCC>TCC	p.P682S	PLD2_uc002fzd.2_Missense_Mutation_p.P682S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	682	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4722429	4722429	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4722429G>T	uc002fzc.2	+	22	2325	c.2224G>T	c.(2224-2226)GGA>TGA	p.G742*	PLD2_uc002fzd.2_Nonsense_Mutation_p.G742*	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	742	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
MINK1	50488	broad.mit.edu	37	17	4796870	4796870	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4796870A>C	uc010vsl.1	+	21	2738	c.2542A>C	c.(2542-2544)AGC>CGC	p.S848R	MINK1_uc010vsk.1_Missense_Mutation_p.S819R|MINK1_uc010vsm.1_Missense_Mutation_p.S828R|MINK1_uc010vsn.1_Missense_Mutation_p.S811R|MINK1_uc010vso.1_Missense_Mutation_p.S756R|MINK1_uc010vsp.1_Missense_Mutation_p.S309R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	848					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
C17orf107	100130311	broad.mit.edu	37	17	4804281	4804281	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4804281T>C	uc002fzl.3	+	3					CHRNE_uc002fzk.1_Intron	NM_001145536	NP_001139008			hypothetical protein LOC100130311												0																		---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4848061	4848061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4848061G>A	uc002fzq.2	+	11	1219	c.803G>A	c.(802-804)TGC>TAC	p.C268Y	RNF167_uc002fzr.2_Missense_Mutation_p.C268Y|RNF167_uc002fzs.2_Missense_Mutation_p.C268Y|RNF167_uc002fzt.2_Missense_Mutation_p.C268Y|RNF167_uc002fzu.2_Missense_Mutation_p.C267Y|RNF167_uc002fzv.2_Missense_Mutation_p.C233Y|RNF167_uc002fzx.2_Missense_Mutation_p.C232Y|RNF167_uc002fzy.2_Missense_Mutation_p.C67Y	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	268	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4905895	4905895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4905895A>G	uc002gan.1	+	7	892	c.566A>G	c.(565-567)TAC>TGC	p.Y189C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	189	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2																		---	---	---	---
GPR172B	55065	broad.mit.edu	37	17	4937093	4937093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4937093G>A	uc002gap.3	-	3	1404	c.691C>T	c.(691-693)CCT>TCT	p.P231S	GPR172B_uc002gao.3_Missense_Mutation_p.P231S|GPR172B_uc010ckw.2_Missense_Mutation_p.P109S|GPR172B_uc010ckx.2_Missense_Mutation_p.P231S	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	231						integral to plasma membrane	receptor activity|riboflavin transporter activity				0																		---	---	---	---
USP6	9098	broad.mit.edu	37	17	5039162	5039162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5039162T>C	uc002gau.1	+	17	2833	c.603T>C	c.(601-603)CCT>CCC	p.P201P	USP6_uc002gav.1_Silent_p.P201P|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	201	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5041418	5041418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5041418C>T	uc002gau.1	+	21	3158	c.928C>T	c.(928-930)CGC>TGC	p.R310C	USP6_uc002gav.1_Missense_Mutation_p.R310C|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	310					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5071427	5071427	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5071427C>T	uc002gau.1	+						USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron	NM_004505	NP_004496			ubiquitin specific protease 6						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085839	5085839	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5085839A>G	uc010cla.1	-	2	1869	c.1713T>C	c.(1711-1713)AAT>AAC	p.N571N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	571	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5276735	5276735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5276735C>A	uc002gbm.3	+	13	2235	c.2011C>A	c.(2011-2013)CCA>ACA	p.P671T	RABEP1_uc010clc.1_Missense_Mutation_p.P664T|RABEP1_uc010cld.1_Missense_Mutation_p.P628T|RABEP1_uc010vsw.1_Missense_Mutation_p.P628T|RABEP1_uc002gbl.3_Missense_Mutation_p.P671T|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	671	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
C1QBP	708	broad.mit.edu	37	17	5338255	5338255	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5338255T>C	uc002gby.1	-	3	493	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	139					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1																		---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5436169	5436169	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5436169A>G	uc002gci.2	-	11	3824	c.3269T>C	c.(3268-3270)GTA>GCA	p.V1090A	NLRP1_uc002gcg.1_Missense_Mutation_p.V1094A|NLRP1_uc002gck.2_Missense_Mutation_p.V1090A|NLRP1_uc002gcj.2_Missense_Mutation_p.V1060A|NLRP1_uc002gcl.2_Missense_Mutation_p.V1060A|NLRP1_uc002gch.3_Missense_Mutation_p.V1090A|NLRP1_uc010clh.2_Missense_Mutation_p.V1090A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1090					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)																---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5984004	5984004	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5984004A>G	uc010cli.2	+	2	405	c.26A>G	c.(25-27)CAG>CGG	p.Q9R	WSCD1_uc002gcn.2_Missense_Mutation_p.Q9R|WSCD1_uc002gco.2_Missense_Mutation_p.Q9R|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	9						integral to membrane	sulfotransferase activity				0																		---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021338	6021338	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6021338G>A	uc010cli.2	+	8	1584	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	WSCD1_uc002gcn.2_Missense_Mutation_p.S402N|WSCD1_uc002gco.2_Missense_Mutation_p.S402N|WSCD1_uc010clj.2_Missense_Mutation_p.S93N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity				0																		---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6329092	6329092	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6329092G>A	uc002gcp.2	-	6	938	c.843C>T	c.(841-843)GCC>GCT	p.A281A	AIPL1_uc002gcq.2_Silent_p.A221A|AIPL1_uc002gcr.2_Silent_p.A218A|AIPL1_uc010clk.2_Silent_p.A259A|AIPL1_uc010cll.2_Silent_p.A257A|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	281	TPR 3.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)														---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6377778	6377778	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6377778C>T	uc002gdd.3	-	10	1383	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	PITPNM3_uc010cln.2_Missense_Mutation_p.R375Q|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Missense_Mutation_p.R2Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	411	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)														---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6483063	6483063	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6483063G>A	uc002gde.3	-	19					KIAA0753_uc010vtd.1_3'UTR|KIAA0753_uc010clo.2_3'UTR|KIAA0753_uc010vte.1_3'UTR	NM_014804	NP_055619			hypothetical protein LOC9851							centrosome					0				COAD - Colon adenocarcinoma(228;0.157)														---	---	---	---
FBXO39	162517	broad.mit.edu	37	17	6683582	6683582	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6683582A>G	uc010vtg.1	+	2	515	c.395A>G	c.(394-396)CAA>CGA	p.Q132R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	132										ovary(1)|skin(1)	2																		---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6909216	6909216	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6909216C>A	uc002gdx.3	+	10	1341	c.1288C>A	c.(1288-1290)CGT>AGT	p.R430S	uc002gdy.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	430	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
RNASEK	440400	broad.mit.edu	37	17	6916011	6916011	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6916011G>T	uc002gea.2	+	1	214	c.9G>T	c.(7-9)TCG>TCT	p.S3S	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank	NM_001004333	NP_001004333	Q6P5S7	RNK_HUMAN	ribonuclease kappa	3					rRNA transcription	integral to membrane	endoribonuclease activity				0																		---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927709	6927709	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6927709A>G	uc002geg.2	+						BCL6B_uc010clt.1_Intron	NM_181844	NP_862827			B-cell CLL/lymphoma 6, member B (zinc finger							nucleus	zinc ion binding			skin(1)	1																		---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7229645	7229645	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7229645C>T	uc002gga.1	-	6	1229	c.1222G>A	c.(1222-1224)GGC>AGC	p.G408S	NEURL4_uc002ggb.1_Missense_Mutation_p.G408S|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	408	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7351977	7351977	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7351977A>T	uc002ghb.2	+	7	731	c.690A>T	c.(688-690)GGA>GGT	p.G230G	CHRNB1_uc010vty.1_Silent_p.G158G|CHRNB1_uc010vtz.1_Silent_p.G64G	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	230	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)																---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7468286	7468286	+	Translation_Start_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7468286C>T	uc002gho.1	+	1	11	c.-1314C>T	c.(-1316--1312)GACGA>GATGA		SENP3_uc002ghm.2_Silent_p.D322D|SENP3_uc002ghn.1_Silent_p.D157D	NM_001416	NP_001407			eukaryotic translation initiation factor 4A						nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7604986	7604986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7604986G>A	uc010vuh.1	+	7	989	c.834G>A	c.(832-834)ACG>ACA	p.T278T	WRAP53_uc010vui.1_Silent_p.T278T|WRAP53_uc002gip.2_Silent_p.T278T|WRAP53_uc002gir.2_Silent_p.T278T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T245T|WRAP53_uc010vuj.1_Silent_p.T59T	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	278	WD 3.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0																		---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7710589	7710589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7710589C>T	uc002giu.1	+	61	9578	c.9564C>T	c.(9562-9564)CGC>CGT	p.R3188R	DNAH2_uc010cnm.1_Silent_p.R126R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3188	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727218	7727218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727218G>A	uc002giu.1	+	74	11410	c.11396G>A	c.(11395-11397)CGC>CAC	p.R3799H	DNAH2_uc010cnm.1_Missense_Mutation_p.R737H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3799					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727556	7727556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727556G>A	uc002giu.1	+	75	11610	c.11596G>A	c.(11596-11598)GCC>ACC	p.A3866T	DNAH2_uc010cnm.1_Missense_Mutation_p.A804T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3866	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7734400	7734400	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7734400C>T	uc002giu.1	+						DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7736077	7736077	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7736077A>C	uc002giu.1	+							NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7814196	7814196	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7814196C>T	uc002gje.2	+	39	5936	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CHD3_uc002gjd.2_Missense_Mutation_p.P1988L|CHD3_uc002gjf.2_Missense_Mutation_p.P1895L|CHD3_uc002gjh.2_Missense_Mutation_p.P506L|CHD3_uc002gjj.2_Missense_Mutation_p.P92L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1929	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7842846	7842846	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7842846G>T	uc002gjq.2	+	9	1862	c.943G>T	c.(943-945)GCT>TCT	p.A315S	CNTROB_uc002gjp.2_Missense_Mutation_p.A315S|CNTROB_uc002gjr.2_Missense_Mutation_p.A217S|CNTROB_uc010vum.1_Missense_Mutation_p.A27S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	315	Potential.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7906918	7906918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7906918G>A	uc002gjt.2	+	2	627	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	185	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7907379	7907379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7907379C>T	uc002gjt.2	+	3	1005	c.931C>T	c.(931-933)CTC>TTC	p.L311F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	311	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
ALOX15B	247	broad.mit.edu	37	17	7951813	7951813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7951813G>A	uc002gju.2	+	14	2077	c.1961G>A	c.(1960-1962)CGG>CAG	p.R654Q	ALOX15B_uc002gjv.2_Missense_Mutation_p.R625Q|ALOX15B_uc002gjw.2_Missense_Mutation_p.R580Q|ALOX15B_uc010vun.1_Missense_Mutation_p.R642Q|ALOX15B_uc010cnp.2_Missense_Mutation_p.R460Q	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	654	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1																		---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8167098	8167098	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8167098G>A	uc002gkr.2	+	15	1776	c.1635G>A	c.(1633-1635)GGG>GGA	p.G545G	PFAS_uc010vuv.1_Silent_p.G121G|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	545					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8168393	8168393	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8168393G>A	uc002gkr.2	+	18	2371	c.2230G>A	c.(2230-2232)GTG>ATG	p.V744M	PFAS_uc010vuv.1_Missense_Mutation_p.V320M|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	744					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215626	8215626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8215626C>T	uc002glc.2	+	2	390	c.269C>T	c.(268-270)TCC>TTC	p.S90F	ARHGEF15_uc002glb.1_Missense_Mutation_p.S90F|ARHGEF15_uc002gld.2_Missense_Mutation_p.S90F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S90F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	90	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8422252	8422252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8422252G>A	uc002gll.2	-	18	2293	c.2197C>T	c.(2197-2199)CCA>TCA	p.P733S	MYH10_uc002glm.2_Missense_Mutation_p.P764S|MYH10_uc010cnx.2_Missense_Mutation_p.P742S	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	733	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
USP43	124739	broad.mit.edu	37	17	9586272	9586272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9586272G>A	uc010cod.2	+	7	1238	c.1238G>A	c.(1237-1239)AGC>AAC	p.S413N	USP43_uc002gma.3_Missense_Mutation_p.S102N|USP43_uc010vva.1_Missense_Mutation_p.S413N|USP43_uc010coe.2_Missense_Mutation_p.S210N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10219346	10219346	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10219346T>C	uc002gmk.1	-							NM_003802	NP_003793			myosin, heavy polypeptide 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10227392	10227392	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10227392G>T	uc002gmk.1	-	23	2971	c.2881C>A	c.(2881-2883)CTG>ATG	p.L961M	MYH13_uc010vve.1_Missense_Mutation_p.L59M	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	961	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10261071	10261071	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10261071T>C	uc002gmk.1	-	8	809	c.719A>G	c.(718-720)AAT>AGT	p.N240S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	240	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10322295	10322295	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10322295T>C	uc002gmm.2	-	4	358	c.263A>G	c.(262-264)GAC>GGC	p.D88G	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	88	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10323492	10323492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10323492T>C	uc002gmm.2	-	3	148	c.53A>G	c.(52-54)TAC>TGC	p.Y18C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	18	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10358102	10358102	+	Missense_Mutation	SNP	T	A	A	rs112990048		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10358102T>A	uc002gmn.2	-	22	2572	c.2461A>T	c.(2461-2463)AAC>TAC	p.N821Y	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	821					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10398373	10398373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10398373C>T	uc002gmo.2	-	37	5435	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1781	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10402051	10402051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10402051T>C	uc002gmo.2	-	30	4167	c.4073A>G	c.(4072-4074)AAG>AGG	p.K1358R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1358	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446487	10446487	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10446487A>G	uc010coi.2	-						uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582			myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10448771	10448771	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10448771G>T	uc010coi.2	-	5	525	c.397C>A	c.(397-399)CCT>ACT	p.P133T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P133T|MYH2_uc010coj.2_Missense_Mutation_p.P133T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	133	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10539158	10539158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10539158C>T	uc002gmq.1	-	28	3946	c.3869G>A	c.(3868-3870)CGT>CAT	p.R1290H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1290	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
PIRT	644139	broad.mit.edu	37	17	10728777	10728777	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10728777G>A	uc010col.2	-	2	481	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of	62	Helical; (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11554567	11554567	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11554567T>C	uc002gne.2	+	13	2347	c.2279T>C	c.(2278-2280)TTA>TCA	p.L760S	DNAH9_uc010coo.2_Missense_Mutation_p.L54S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	760	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572398	11572398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11572398A>G	uc002gne.2	+	16	2817	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	DNAH9_uc010coo.2_Missense_Mutation_p.T211A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	917	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
HS3ST3B1	9953	broad.mit.edu	37	17	14204913	14204913	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14204913G>A	uc002goh.1	+	1	408	c.78G>A	c.(76-78)CCG>CCA	p.P26P	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	26	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	14683188	14683188	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14683188A>G								HS3ST3B1 (433696 upstream) : PMP22 (449909 downstream)																																			---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15539514	15539514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15539514C>T	uc002gox.2	-	6	1242	c.685G>A	c.(685-687)GCC>ACC	p.A229T	TRIM16_uc002gor.1_Missense_Mutation_p.A229T|TRIM16_uc002gow.2_Missense_Mutation_p.A13T|TRIM16_uc002goy.2_Missense_Mutation_p.A99T	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	229					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)														---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15906111	15906111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15906111C>T	uc002gph.1	+	4	809	c.791C>T	c.(790-792)GCC>GTC	p.A264V	TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	143	TPR 1.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16022749	16022749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16022749C>T	uc002gpo.2	-	17	2143	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	NCOR1_uc002gpn.2_Missense_Mutation_p.V635I|NCOR1_uc002gpp.1_Missense_Mutation_p.V526I|NCOR1_uc002gpr.2_Missense_Mutation_p.V526I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	635	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16024445	16024445	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16024445G>A	uc002gpo.2	-	16	2013	c.1773C>T	c.(1771-1773)AAC>AAT	p.N591N	NCOR1_uc002gpn.2_Silent_p.N591N|NCOR1_uc002gpp.1_Silent_p.N482N|NCOR1_uc002gpr.2_Silent_p.N482N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	591					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16075115	16075115	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16075115A>G	uc002gpo.2	-	4	675	c.435_splice	c.e4+1	p.K145_splice	NCOR1_uc002gpn.2_Splice_Site_p.K145_splice|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Splice_Site_p.K145_splice|NCOR1_uc010coz.1_Splice_Site|NCOR1_uc010cpb.1_Splice_Site_p.K145_splice|NCOR1_uc010cpa.1_Splice_Site_p.K145_splice|NCOR1_uc002gpu.2_Splice_Site_p.K145_splice	NM_006311	NP_006302			nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
CENPV	201161	broad.mit.edu	37	17	16246220	16246220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16246220G>A	uc002gpw.2	-	5	792	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_181716	NP_859067	Q7Z7K6	CENPV_HUMAN	proline rich 6	247					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity				0																		---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335120	16335120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16335120G>A	uc002gpy.2	+	11	1977	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	TRPV2_uc002gpz.2_Missense_Mutation_p.R107H	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	537	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16527781	16527781	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16527781T>G	uc010cpi.1	-	6	502	c.419A>C	c.(418-420)AAG>ACG	p.K140T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16612506	16612506	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16612506C>T	uc002gqk.1	+	5	1211	c.1135C>T	c.(1135-1137)CCA>TCA	p.P379S	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	379											0																		---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17057612	17057612	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17057612C>A	uc002gqu.1	+						MPRIP_uc002gqv.1_Intron|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431			myosin phosphatase-Rho interacting protein							cytoplasm|cytoskeleton	actin binding				0																		---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17179427	17179427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17179427G>A	uc002grd.2	-	2	198	c.107C>T	c.(106-108)GCG>GTG	p.A36V	COPS3_uc010vwv.1_Missense_Mutation_p.A16V|COPS3_uc010vww.1_5'UTR	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	36					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1																		---	---	---	---
PEMT	10400	broad.mit.edu	37	17	17412796	17412796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17412796T>C	uc002grj.2	-	5	486	c.419A>G	c.(418-420)AAC>AGC	p.N140S	PEMT_uc002grk.2_Missense_Mutation_p.N140S|PEMT_uc002grl.2_Missense_Mutation_p.N177S|PEMT_uc010vwx.1_Missense_Mutation_p.N177S	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	140					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)														---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17721053	17721053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17721053C>T	uc002gru.1	-	7	1555	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	SREBF1_uc002grp.1_Missense_Mutation_p.A24T|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.G200D|SREBF1_uc002grs.1_Missense_Mutation_p.G430D|SREBF1_uc002grt.1_Missense_Mutation_p.G484D|SREBF1_uc010cpp.1_Missense_Mutation_p.G430D|SREBF1_uc010cpq.1_Missense_Mutation_p.G454D	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	454	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1																		---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17887240	17887240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17887240G>A	uc010vxd.1	+	5	638	c.259G>A	c.(259-261)GCA>ACA	p.A87T	LRRC48_uc002gsa.2_Missense_Mutation_p.A87T|LRRC48_uc010vxc.1_Missense_Mutation_p.A87T|LRRC48_uc002gsb.2_Missense_Mutation_p.A87T	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	87	LRR 2.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)																	---	---	---	---
DRG2	1819	broad.mit.edu	37	17	17997252	17997252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17997252C>T	uc002gsh.1	+	2	245	c.190C>T	c.(190-192)CGT>TGT	p.R64C	DRG2_uc010vxg.1_Missense_Mutation_p.R64C|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R64C	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	64					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023508	18023508	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18023508A>G	uc010vxh.1	+	2	1732	c.1394A>G	c.(1393-1395)AAG>AGG	p.K465R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	465	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18039118	18039118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18039118G>A	uc010vxh.1	+	12	4914	c.4576G>A	c.(4576-4578)GCC>ACC	p.A1526T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18082167	18082167	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18082167G>A	uc010vxh.1	+	65	10914	c.10576G>A	c.(10576-10578)GAG>AAG	p.E3526K	uc002gsn.2_Intron|MYO15A_uc010vxi.1_3'UTR|MYO15A_uc002gsl.2_3'UTR|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3526	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18143909	18143909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18143909A>G	uc002gsp.2	+	17	2285	c.2224A>G	c.(2224-2226)ACC>GCC	p.T742A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	742	WD 11.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)																	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18188810	18188810	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18188810T>C	uc002gsx.1	-	14	1851	c.1622A>G	c.(1621-1623)CAC>CGC	p.H541R	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Missense_Mutation_p.H71R|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.H439R	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	541					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18205934	18205934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18205934G>A	uc002gsx.1	-	6	832	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	201					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18233876	18233876	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18233876G>A	uc002gta.2	-	10	1354	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	SHMT1_uc002gsz.2_Silent_p.T163T|SHMT1_uc002gtb.2_Silent_p.T349T|SHMT1_uc010cqb.2_Silent_p.T388T|SHMT1_uc010vxt.1_Silent_p.T250T	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638407	18638407	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18638407C>T	uc002gug.1	+	10	1368	c.681C>T	c.(679-681)GGC>GGT	p.G227G	TRIM16L_uc010vyf.1_Silent_p.G281G|TRIM16L_uc002guh.1_Silent_p.G227G|TRIM16L_uc010cqg.1_Silent_p.G329G|TRIM16L_uc002gui.1_Silent_p.G227G|TRIM16L_uc010vyg.1_Silent_p.G227G|TRIM16L_uc010vyh.1_Missense_Mutation_p.A140V	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	227	B30.2/SPRY.					cytoplasm					0																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874741	18874741	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874741G>A	uc002guw.2	-	6	2570	c.2403C>T	c.(2401-2403)GGC>GGT	p.G801G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874742	18874742	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874742C>T	uc002guw.2	-	6	2569	c.2402G>A	c.(2401-2403)GGC>GAC	p.G801D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18881506	18881506	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18881506G>A	uc002guw.2	-	5	1640	c.1473C>T	c.(1471-1473)AAC>AAT	p.N491N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	491	Pro-rich.									ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19237382	19237382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19237382C>T	uc002gvd.3	+	11	2189	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S	EPN2_uc002gve.3_Missense_Mutation_p.P524S|EPN2_uc002gvf.3_Missense_Mutation_p.P296S|EPN2_uc010vyo.1_Missense_Mutation_p.P289S|EPN2_uc010vyp.1_Missense_Mutation_p.P517S|EPN2_uc010vyq.1_Missense_Mutation_p.P518S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Intron	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	581	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284296	19284296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284296G>A	uc002gvn.2	+	4	1160	c.774G>A	c.(772-774)CGG>CGA	p.R258R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R119R|MAPK7_uc002gvq.2_Silent_p.R258R|MAPK7_uc002gvp.2_Silent_p.R258R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	258	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)																	---	---	---	---
RNF112	7732	broad.mit.edu	37	17	19319055	19319055	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19319055T>A	uc010vyw.1	+	14	1662	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	RNF112_uc010vyv.1_Missense_Mutation_p.V489D	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	488							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19470491	19470491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19470491G>A	uc002gvy.1	+	14	1345	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	SLC47A1_uc002gvx.2_Missense_Mutation_p.G420D|SLC47A1_uc010vyz.1_Missense_Mutation_p.G397D|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G225D|SLC47A1_uc010vza.1_Missense_Mutation_p.G132D|SLC47A1_uc010vzb.1_Missense_Mutation_p.G154D|SLC47A1_uc010vzc.1_Missense_Mutation_p.G92D	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	420	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19679710	19679710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19679710A>G	uc002gwm.3	-	27	3572	c.3063T>C	c.(3061-3063)AGT>AGC	p.S1021S	ULK2_uc002gwn.2_Silent_p.S1021S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	1021					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19705207	19705207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19705207T>C	uc002gwm.3	-	16	1833	c.1324A>G	c.(1324-1326)AGC>GGC	p.S442G	ULK2_uc002gwn.2_Missense_Mutation_p.S442G	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	442					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
AKAP10	11216	broad.mit.edu	37	17	19827780	19827780	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19827780C>G	uc002gwo.2	-	11	1829	c.1692G>C	c.(1690-1692)GCG>GCC	p.A564A	AKAP10_uc002gwp.1_Silent_p.A564A|AKAP10_uc010cqw.1_Silent_p.A506A	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	564					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)																	---	---	---	---
CYTSB	92521	broad.mit.edu	37	17	20135555	20135555	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20135555A>T	uc002gwq.2	+	7	2333	c.2188A>T	c.(2188-2190)ACC>TCC	p.T730S	CYTSB_uc010cqx.2_Missense_Mutation_p.T730S|CYTSB_uc002gwr.2_Missense_Mutation_p.T730S|CYTSB_uc002gws.2_Missense_Mutation_p.T730S|CYTSB_uc002gwv.2_Missense_Mutation_p.T649S|CYTSB_uc010vzf.1_Missense_Mutation_p.T70S|CYTSB_uc002gww.2_Missense_Mutation_p.T506S|CYTSB_uc002gwt.2_Missense_Mutation_p.T649S|CYTSB_uc002gwu.2_Missense_Mutation_p.T649S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	730	Potential.					nucleus					0																		---	---	---	---
CCDC144NL	339184	broad.mit.edu	37	17	20799218	20799218	+	Missense_Mutation	SNP	T	C	C	rs139153464	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20799218T>C	uc002gyf.2	-	1	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	39											0																		---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21204191	21204191	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21204191C>T	uc002gys.2	+	5	550	c.285C>T	c.(283-285)ATC>ATT	p.I95I	MAP2K3_uc002gyt.2_Silent_p.I66I|MAP2K3_uc002gyu.2_Silent_p.I66I	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	95	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)														---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319710	21319710	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21319710C>A	uc002gyv.1	+	3	1761	c.1056C>A	c.(1054-1056)CCC>CCA	p.P352P		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	352	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)										Prostate(3;0.18)			---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449711	26449711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966990	26966990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26966990T>C	uc002hbu.2	-	9	1043	c.944A>G	c.(943-945)GAT>GGT	p.D315G	KIAA0100_uc002hbv.2_Missense_Mutation_p.D315G|KIAA0100_uc010crr.1_Missense_Mutation_p.D172G	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	315						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26970214	26970214	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26970214A>C	uc002hbu.2	-	4	463	c.364T>G	c.(364-366)TTC>GTC	p.F122V	KIAA0100_uc002hbv.2_Missense_Mutation_p.F122V|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	122						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27014479	27014479	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27014479A>G	uc002hby.2	+	23	3086	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	SUPT6H_uc010crt.2_Missense_Mutation_p.H999R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	999					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27061177	27061177	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27061177C>T	uc002hcp.2	+	2	224	c.224C>T	c.(223-225)GCC>GTC	p.A75V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	75	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)																	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27076177	27076177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27076177G>A	uc002hcs.2	+	7	1103	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	332	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)															---	---	---	---
TIAF1	9220	broad.mit.edu	37	17	27400906	27400906	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27400906G>A	uc002hdv.1	-	1	1722	c.312C>T	c.(310-312)GAC>GAT	p.D104D	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	104					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27437573	27437573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27437573C>T	uc002hdt.1	-	18	3126	c.2968G>A	c.(2968-2970)GGC>AGC	p.G990S	MYO18A_uc010wbc.1_Missense_Mutation_p.G532S|MYO18A_uc002hds.2_Missense_Mutation_p.G532S|MYO18A_uc010csa.1_Missense_Mutation_p.G990S|MYO18A_uc002hdu.1_Missense_Mutation_p.G990S|MYO18A_uc010wbd.1_Missense_Mutation_p.G659S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	990	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27794194	27794194	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27794194C>T	uc002hdz.1	+	3	358	c.164C>T	c.(163-165)GCC>GTC	p.A55V	TAOK1_uc010wbe.1_Missense_Mutation_p.A55V|TAOK1_uc010wbf.1_Missense_Mutation_p.A55V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	55	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818822	27818822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818822T>C	uc002hdz.1	+	10	964	c.770T>C	c.(769-771)TTT>TCT	p.F257S	TAOK1_uc010wbe.1_Missense_Mutation_p.F257S|TAOK1_uc010wbf.1_Missense_Mutation_p.F257S|TAOK1_uc002heb.1_Missense_Mutation_p.F83S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	257	Protein kinase.			F -> S (in Ref. 1; AAG38502).	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818871	27818871	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818871G>T	uc002hdz.1	+	10	1013	c.819G>T	c.(817-819)GAG>GAT	p.E273D	TAOK1_uc010wbe.1_Missense_Mutation_p.E273D|TAOK1_uc010wbf.1_Missense_Mutation_p.E273D|TAOK1_uc002heb.1_Missense_Mutation_p.E99D	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	273	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27901720	27901720	+	Nonstop_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27901720T>C	uc002hef.2	-	20	2500	c.2286A>G	c.(2284-2286)TGA>TGG	p.*762W	GIT1_uc002heg.2_Nonstop_Mutation_p.*771W|GIT1_uc010wbg.1_Nonstop_Mutation_p.*748W|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	762					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)														---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27939735	27939735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27939735G>A	uc002hei.2	+	13	1590	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	ANKRD13B_uc002heh.2_Missense_Mutation_p.G361S|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.G3S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	493											0																		---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27948258	27948258	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27948258A>T	uc002hel.2	-	1	184	c.182T>A	c.(181-183)GTC>GAC	p.V61D		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	61					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959499	27959499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27959499G>A	uc002heo.1	-	15	2632	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W	SSH2_uc010wbh.1_Missense_Mutation_p.R905W	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	878					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27977756	27977756	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27977756T>C	uc002heo.1	-	12	1061	c.1061A>G	c.(1060-1062)TAT>TGT	p.Y354C	SSH2_uc010wbh.1_Missense_Mutation_p.Y381C|SSH2_uc002hep.1_Missense_Mutation_p.Y354C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	354	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27999065	27999065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27999065C>T	uc002heo.1	-	8	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SSH2_uc010wbh.1_Missense_Mutation_p.V233M|SSH2_uc002hep.1_Missense_Mutation_p.V206M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	206					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28538348	28538348	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)													---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712243	28712243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712243A>G	uc002hfb.1	+	2	998	c.983A>G	c.(982-984)TAT>TGT	p.Y328C	CPD_uc010wbo.1_Missense_Mutation_p.Y81C|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	328	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712247	28712247	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712247T>C	uc002hfb.1	+	2	1002	c.987T>C	c.(985-987)GAT>GAC	p.D329D	CPD_uc010wbo.1_Silent_p.D82D|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	329	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28791791	28791791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28791791A>G	uc002hfb.1	+	21	4117	c.4102A>G	c.(4102-4104)ACA>GCA	p.T1368A	CPD_uc010wbo.1_Missense_Mutation_p.T1121A|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1368	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
GOSR1	9527	broad.mit.edu	37	17	28808272	28808272	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28808272A>G	uc002hfe.2	+	2	169	c.143A>G	c.(142-144)GAC>GGC	p.D48G	GOSR1_uc002hfd.2_Missense_Mutation_p.D48G|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.D48G	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	48	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0																		---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29161368	29161368	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29161368T>C	uc002hfs.1	+	2	615	c.269T>C	c.(268-270)GTA>GCA	p.V90A	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	90					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---
C17orf42	79736	broad.mit.edu	37	17	29231212	29231212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29231212A>G	uc002hfu.2	-	2	437	c.367T>C	c.(367-369)TAT>CAT	p.Y123H	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.Y123H|C17orf42_uc010wbs.1_Missense_Mutation_p.Y123H	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	123					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)																---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29283258	29283258	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29283258G>T	uc002hfx.2	+	10	1162	c.883_splice	c.e10-1	p.D295_splice	ADAP2_uc010csk.2_Splice_Site_p.D301_splice|ADAP2_uc002hfy.2_Splice_Site_p.D294_splice|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874			centaurin-alpha 2 protein						heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1																		---	---	---	---
NF1	4763	broad.mit.edu	37	17	29653192	29653192	+	Silent	SNP	C	A	A	rs143230984		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29653192C>A	uc002hgg.2	+	37	5523	c.5190C>A	c.(5188-5190)ACC>ACA	p.T1730T	NF1_uc002hgh.2_Silent_p.T1709T|NF1_uc002hgi.1_Silent_p.T742T|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1730	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30200688	30200688	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30200688A>G	uc002hgr.2	-						UTP6_uc002hgq.2_Intron|UTP6_uc010cst.2_Intron	NM_018428	NP_060898			hepatocellular carcinoma-associated antigen 66						rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348561	30348561	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348561A>G	uc002hgu.2	+	1	407	c.396A>G	c.(394-396)CCA>CCG	p.P132P	LRRC37B_uc010wbx.1_Silent_p.P50P|LRRC37B_uc010csu.2_Silent_p.P132P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	132	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348993	30348993	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348993G>A	uc002hgu.2	+	1	839	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	LRRC37B_uc010wbx.1_Silent_p.Q194Q|LRRC37B_uc010csu.2_Silent_p.Q276Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	276	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30349701	30349701	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30349701G>C	uc002hgu.2	+	1	1547	c.1536G>C	c.(1534-1536)CAG>CAC	p.Q512H	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q430H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q512H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	512	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
C17orf75	64149	broad.mit.edu	37	17	30662406	30662406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30662406A>G	uc002hhg.2	-	6	636	c.605T>C	c.(604-606)GTT>GCT	p.V202A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	202					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692341	30692341	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692341C>A	uc002hhh.3	+						ZNF207_uc002hhj.3_Intron|ZNF207_uc002hhi.3_Intron|ZNF207_uc010csz.2_Intron|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_Intron	NM_003457	NP_003448			zinc finger protein 207 isoform a							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692444	30692444	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692444A>T	uc002hhh.3	+	7	866	c.718A>T	c.(718-720)ACA>TCA	p.T240S	ZNF207_uc002hhj.3_Missense_Mutation_p.T256S|ZNF207_uc002hhi.3_Missense_Mutation_p.T256S|ZNF207_uc010csz.2_Missense_Mutation_p.T259S|ZNF207_uc002hhk.1_Missense_Mutation_p.T256S|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30986316	30986316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30986316G>A	uc002hho.1	-	17	2174	c.2162C>T	c.(2161-2163)ACC>ATC	p.T721I	MYO1D_uc002hhp.1_Missense_Mutation_p.T721I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	721	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)													OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCL8	6355	broad.mit.edu	37	17	32646550	32646550	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32646550G>A	uc002hib.2	+	1	485	c.30G>A	c.(28-30)CTG>CTA	p.L10L		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	10					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)																---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32959781	32959781	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32959781A>G	uc002hif.2	+	7	1599	c.1271A>G	c.(1270-1272)AAC>AGC	p.N424S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	424	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---
CCT6B	10693	broad.mit.edu	37	17	33266714	33266714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33266714A>G	uc002hig.2	-	9	1081	c.987T>C	c.(985-987)GGT>GGC	p.G329G	CCT6B_uc010ctg.2_Silent_p.G292G|CCT6B_uc010wcc.1_Silent_p.G284G	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	329					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)																---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33585998	33585998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33585998A>T	uc002hjf.3	+	2	406	c.289A>T	c.(289-291)ATT>TTT	p.I97F	SLFN5_uc002hje.2_Missense_Mutation_p.I97F|SLFN5_uc010wcg.1_Missense_Mutation_p.I97F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	97					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680045	33680045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680045T>C	uc010ctp.2	-	7	2478	c.2036A>G	c.(2035-2037)GAC>GGC	p.D679G	SLFN11_uc010ctq.2_Missense_Mutation_p.D679G|SLFN11_uc002hjh.3_Missense_Mutation_p.D679G|SLFN11_uc002hjg.3_Missense_Mutation_p.D679G|SLFN11_uc010ctr.2_Missense_Mutation_p.D679G	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	679						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680106	33680106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680106A>G	uc010ctp.2	-	7	2417	c.1975T>C	c.(1975-1977)TTT>CTT	p.F659L	SLFN11_uc010ctq.2_Missense_Mutation_p.F659L|SLFN11_uc002hjh.3_Missense_Mutation_p.F659L|SLFN11_uc002hjg.3_Missense_Mutation_p.F659L|SLFN11_uc010ctr.2_Missense_Mutation_p.F659L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	659						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN13	146857	broad.mit.edu	37	17	33772396	33772396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33772396C>T	uc002hjk.1	-	1	634	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SLFN13_uc010wch.1_Missense_Mutation_p.G102R|SLFN13_uc002hjl.2_Missense_Mutation_p.G102R|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_5'UTR	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	102						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34073121	34073121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34073121G>A	uc002hjv.1	-	6	1423	c.1395C>T	c.(1393-1395)GCC>GCT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
C17orf66	256957	broad.mit.edu	37	17	34183196	34183196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34183196T>C	uc002hke.1	-	13	1408	c.1259A>G	c.(1258-1260)CAG>CGG	p.Q420R	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q380R|C17orf66_uc010wcm.1_3'UTR	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	420							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)														---	---	---	---
ACACA	31	broad.mit.edu	37	17	35601597	35601597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35601597G>A	uc002hnm.2	-	21	2729	c.2538C>T	c.(2536-2538)GGC>GGT	p.G846G	ACACA_uc002hnk.2_Silent_p.G768G|ACACA_uc002hnl.2_Silent_p.G788G|ACACA_uc002hnn.2_Silent_p.G846G|ACACA_uc002hno.2_Silent_p.G883G|ACACA_uc010cuz.2_Silent_p.G846G	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	846					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
ACACA	31	broad.mit.edu	37	17	35766383	35766383	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35766383A>G	uc002hno.2	-	1	520	c.7T>C	c.(7-9)TGG>CGG	p.W3R	ACACA_uc002hnn.2_5'UTR|ACACA_uc002hnq.2_5'UTR|TADA2A_uc002hnt.2_5'Flank|TADA2A_uc002hnu.1_5'Flank|TADA2A_uc002hnv.2_5'Flank	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	Error:Variant_position_missing_in_Q13085_after_alignment					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
DUSP14	11072	broad.mit.edu	37	17	35872915	35872915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35872915G>A	uc002hnx.2	+	3	835	c.541G>A	c.(541-543)GTT>ATT	p.V181I	DUSP14_uc002hny.2_Missense_Mutation_p.V168I|DUSP14_uc002hnz.2_Missense_Mutation_p.V168I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	181							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35914085	35914085	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35914085T>C	uc002hoa.2	-	14	1823	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	SYNRG_uc010wde.1_Silent_p.S502S|SYNRG_uc010wdf.1_Silent_p.S502S|SYNRG_uc002hoc.2_Silent_p.S501S|SYNRG_uc002hoe.2_Silent_p.S502S|SYNRG_uc002hod.2_Silent_p.S502S|SYNRG_uc010wdg.1_Silent_p.S419S|SYNRG_uc002hob.2_Silent_p.S580S|SYNRG_uc002hof.2_Silent_p.S292S|SYNRG_uc010cvd.1_Silent_p.S380S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	580	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35931915	35931915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35931915A>G	uc002hoa.2	-	9	1156	c.1073T>C	c.(1072-1074)GTT>GCT	p.V358A	SYNRG_uc010wde.1_Missense_Mutation_p.V280A|SYNRG_uc010wdf.1_Missense_Mutation_p.V280A|SYNRG_uc002hoc.2_Missense_Mutation_p.V279A|SYNRG_uc002hoe.2_Missense_Mutation_p.V280A|SYNRG_uc002hod.2_Missense_Mutation_p.V280A|SYNRG_uc010wdg.1_Missense_Mutation_p.V280A|SYNRG_uc002hob.2_Missense_Mutation_p.V358A|SYNRG_uc002hof.2_Missense_Mutation_p.V70A|SYNRG_uc010cvd.1_Missense_Mutation_p.V158A|SYNRG_uc002hog.1_Missense_Mutation_p.V492A|SYNRG_uc010wdh.1_3'UTR	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	358	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35986896	35986896	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35986896C>T	uc002hoi.1	-	7	908	c.870G>A	c.(868-870)GTG>GTA	p.V290V	DDX52_uc002hoh.1_Silent_p.V182V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	290	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
DDX52	11056	broad.mit.edu	37	17	36003356	36003356	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36003356A>G	uc002hoi.1	-						DDX52_uc002hoh.1_Intron|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36865786	36865786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36865786C>T	uc002hqi.3	+	6	523	c.510C>T	c.(508-510)AAC>AAT	p.N170N	MLLT6_uc010wdr.1_Silent_p.N170N|MLLT6_uc010cvm.1_Silent_p.N170N	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	170	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36895090	36895090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)																	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243861	37243861	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243861C>T	uc002hrg.2	-	8	1118	c.906G>A	c.(904-906)CCG>CCA	p.P302P	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.P10P|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	302	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
RPL19	6143	broad.mit.edu	37	17	37359273	37359273	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37359273G>T	uc002hrq.1	+	4	329	c.267G>T	c.(265-267)ATG>ATT	p.M89I	RPL19_uc002hrr.1_Missense_Mutation_p.M87I	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0																		---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37420566	37420566	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37420566C>T	uc010wed.1	-	14	1286	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	FBXL20_uc002hrt.2_Silent_p.Q355Q|FBXL20_uc010cvu.2_Silent_p.Q323Q	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	355	LRR 11.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37455285	37455285	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37455285A>T	uc010wed.1	-	5	508	c.287T>A	c.(286-288)TTA>TAA	p.L96*	FBXL20_uc002hrt.2_Nonsense_Mutation_p.L96*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.L96*	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	96	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565253	37565253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37565253A>G	uc002hrv.3	-	17	3433	c.3221T>C	c.(3220-3222)GTG>GCG	p.V1074A	MED1_uc010wee.1_Missense_Mutation_p.V902A|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1074					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566692	37566692	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37566692G>A	uc002hrv.3	-	17	1994	c.1782C>T	c.(1780-1782)GAC>GAT	p.D594D	MED1_uc010wee.1_Silent_p.D422D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	594	Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38142913A>G	uc002htn.1	+	3	661	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)																	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38643669	38643669	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38643669A>T	uc010cxb.2	-	4	1071	c.907T>A	c.(907-909)TCT>ACT	p.S303T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	303	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859802	38859802	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38859802G>A	uc002hvd.2	-	1	201	c.144C>T	c.(142-144)AGC>AGT	p.S48S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	48	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38907439	38907439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38907439G>A	uc002hve.2	-	4	870	c.809C>T	c.(808-810)GCG>GTG	p.A270V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)																---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38953225	38953225	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39036904	39036904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39036904T>C	uc002hvl.2	-	3	634	c.592A>G	c.(592-594)AAT>GAT	p.N198D		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	198	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39086189	39086189	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39086189T>C	uc002hvm.1	-						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Intron|KRT23_uc002hvn.1_Intron	NM_015515	NP_056330			keratin 23							intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39114896	39114896	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39114896T>A	uc002hvo.1	-	7	1469	c.1433A>T	c.(1432-1434)GAG>GTG	p.E478V	KRT39_uc010wfm.1_Missense_Mutation_p.E211V	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	478	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39122754	39122754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39122754G>A	uc002hvo.1	-	1	391	c.355C>T	c.(355-357)CGA>TGA	p.R119*	KRT39_uc010wfm.1_Translation_Start_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	119	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39137109	39137109	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39137109G>A	uc010cxh.1	-	7	1064	c.903C>T	c.(901-903)TGC>TGT	p.C301C	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	301	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39503440	39503440	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39503440C>T	uc002hwk.1	-	4	660	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	208	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
KRT34	3885	broad.mit.edu	37	17	39535677	39535677	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39535677G>A	uc002hwm.2	-	5	942	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	310	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)																---	---	---	---
KRT32	3882	broad.mit.edu	37	17	39623459	39623459	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39623459A>G	uc002hwr.2	-	1	180	c.119T>C	c.(118-120)GTC>GCC	p.V40A		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	40	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)																---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39740076	39740076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39740076C>T	uc002hxf.1	-	4	924	c.863G>A	c.(862-864)CGT>CAT	p.R288H	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288H	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39921283	39921283	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39921283C>T	uc002hxq.2	-	6	1223	c.946G>A	c.(946-948)GTG>ATG	p.V316M	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.V316M|JUP_uc002hxs.2_Missense_Mutation_p.V316M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	316					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39974715	39974715	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39974715G>A	uc002hxv.2	+	4	988	c.663G>A	c.(661-663)ATG>ATA	p.M221I	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	221	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39977960	39977960	+	Missense_Mutation	SNP	G	A	A	rs144314381	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39977960G>A	uc002hxv.2	+	9	1779	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R249Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	485	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	39998572	39998572	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39998572T>C	uc010cxr.2	+						KLHL10_uc010wfv.1_Intron|KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40001942	40001942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40001942G>A	uc010cxr.2	+	3	1391	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	KLHL10_uc010wfv.1_Missense_Mutation_p.A411T|KLHL10_uc010wfw.1_Missense_Mutation_p.A329T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	417	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40141535	40141535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40141535A>G	uc002hyo.2	-	7	877	c.640T>C	c.(640-642)TAT>CAT	p.Y214H	DNAJC7_uc010cxu.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxv.2_Missense_Mutation_p.Y158H|DNAJC7_uc010wgb.1_Missense_Mutation_p.Y158H|DNAJC7_uc010wgc.1_Missense_Mutation_p.Y72H|DNAJC7_uc002hyp.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	214	TPR 6.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)																---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40344600	40344600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40344600C>A	uc002hzd.2	-	4	1032	c.548G>T	c.(547-549)AGG>ATG	p.R183M	GHDC_uc002hzg.1_Missense_Mutation_p.R183M|GHDC_uc010wgg.1_Missense_Mutation_p.R144M|GHDC_uc002hze.3_Missense_Mutation_p.R183M|GHDC_uc002hzf.3_Missense_Mutation_p.R183M|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	183						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)														---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40458336	40458336	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40458336C>T	uc002hzj.1	+	14	2193	c.1551C>T	c.(1549-1551)GCC>GCT	p.A517A	STAT5A_uc010cya.1_Silent_p.A517A|STAT5A_uc010cyb.1_Silent_p.A486A|STAT5A_uc010cyc.1_Silent_p.A487A|STAT5A_uc010cyd.1_Silent_p.A5A|STAT5A_uc010cye.1_Silent_p.A5A	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	517					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40839038	40839038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40839038C>T	uc002iay.2	+	7	1234	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	340	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840476	40840476	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840476C>T	uc002iay.2	+						CNTNAP1_uc010wgs.1_Intron	NM_003632	NP_003623			contactin associated protein 1 precursor						axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840482	40840482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840482T>C	uc002iay.2	+	9	1525	c.1309T>C	c.(1309-1311)TAC>CAC	p.Y437H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	437	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40937321	40937321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40937321C>T	uc002ibj.2	+	6	1318	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C	WNK4_uc010wgx.1_Missense_Mutation_p.R97C|WNK4_uc002ibk.1_Missense_Mutation_p.R205C|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	433					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---
BECN1	8678	broad.mit.edu	37	17	40970232	40970232	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40970232C>T	uc002ibo.3	-						BECN1_uc010whb.1_Intron|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Intron	NM_003766	NP_003757			beclin 1						anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)														---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40990148	40990148	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40990148A>G	uc002ibr.2	+	6	557	c.331A>G	c.(331-333)AGC>GGC	p.S111G	PSME3_uc002ibp.2_Missense_Mutation_p.S50G|PSME3_uc002ibq.2_Missense_Mutation_p.S111G|PSME3_uc002ibs.2_Missense_Mutation_p.S122G|PSME3_uc010whd.1_Intron	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004027	41004027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41004027C>T	uc002ibv.2	+	1	827	c.667C>T	c.(667-669)CGG>TGG	p.R223W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	223	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)													---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41108275	41108275	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41108275G>A	uc002icc.2	-	6	612	c.609C>T	c.(607-609)GGC>GGT	p.G203G	AARSD1_uc002icd.2_Silent_p.G316G|AARSD1_uc002ice.2_Silent_p.G286G|AARSD1_uc002icf.2_Silent_p.G377G|AARSD1_uc010whg.1_Silent_p.G377G|AARSD1_uc010cyu.1_Silent_p.G203G	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	203					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41131289	41131289	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41131289C>T	uc002icf.2	-						AARSD1_uc002icd.2_Intron|AARSD1_uc002ice.2_Intron|AARSD1_uc010whg.1_Intron|AARSD1_uc002icg.2_Intron|AARSD1_uc002ich.2_Intron|AARSD1_uc010whh.1_Intron|RUNDC1_uc002ici.1_5'Flank|RUNDC1_uc010whi.1_5'Flank	NM_025267	NP_079543			alanyl-tRNA synthetase domain containing 1						alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41170164	41170164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41170164C>T	uc002icm.1	-	3	775	c.655G>A	c.(655-657)GGA>AGA	p.G219R	VAT1_uc010cyw.1_Missense_Mutation_p.G85R|VAT1_uc010whk.1_Missense_Mutation_p.G151R	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	219						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246804	41246804	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41246804G>T	uc002icq.2	-	10	976	c.744C>A	c.(742-744)ACC>ACA	p.T248T	BRCA1_uc010whp.1_Silent_p.T201T|BRCA1_uc010whl.1_Silent_p.T248T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T177T|BRCA1_uc002icu.2_Silent_p.T248T|BRCA1_uc010cyx.2_Silent_p.T201T|BRCA1_uc002ict.2_Silent_p.T248T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T80T|BRCA1_uc002idc.1_Silent_p.T247T|BRCA1_uc010whr.1_Silent_p.T201T|BRCA1_uc002idd.2_Silent_p.T248T|BRCA1_uc002ide.1_Silent_p.T79T|BRCA1_uc010cyy.1_Silent_p.T248T|BRCA1_uc010whs.1_Silent_p.T248T|BRCA1_uc010cyz.2_Silent_p.T201T|BRCA1_uc010cza.2_Silent_p.T222T|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	248					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---
TMEM106A	113277	broad.mit.edu	37	17	41368704	41368704	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41368704T>A	uc002idn.1	+						TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Intron|TMEM106A_uc010whz.1_Intron	NM_145041	NP_659478			transmembrane protein 106A							integral to membrane					0		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)														---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610241	41610241	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41610241G>T	uc002idw.2	-	8	740	c.612C>A	c.(610-612)CCC>CCA	p.P204P	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.P150P|ETV4_uc010czh.2_Silent_p.P203P|ETV4_uc010wii.1_Silent_p.P165P|ETV4_uc002idx.2_Silent_p.P204P|ETV4_uc010wij.1_Silent_p.P165P	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	204	Gln-rich.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)				T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41891392	41891392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41891392G>A	uc002iei.3	-	16	1408	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	MPP3_uc002ieh.2_Silent_p.G439G|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41903165	41903165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41903165C>T	uc002iei.3	-	9	734	c.568G>A	c.(568-570)GCA>ACA	p.A190T	MPP3_uc002ieh.2_Missense_Mutation_p.A215T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A190T|MPP3_uc010wik.1_Missense_Mutation_p.A215T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	190	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
PPY	5539	broad.mit.edu	37	17	42018862	42018862	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42018862C>T	uc002iep.2	-	2	206	c.161G>A	c.(160-162)CGT>CAT	p.R54H		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	54					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
NAGS	162417	broad.mit.edu	37	17	42082072	42082072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42082072C>A	uc002ies.2	+	1	41	c.41C>A	c.(40-42)GCT>GAT	p.A14D	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.A14D|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	14					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)													---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42089614	42089614	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42089614T>A	uc002ieu.2	-						TMEM101_uc010wis.1_Intron	NM_032376	NP_115752			transmembrane protein 101						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42162039	42162039	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42162039A>T	uc002ifd.1	-	16	2400	c.2189T>A	c.(2188-2190)ATC>AAC	p.I730N	HDAC5_uc002ife.1_Missense_Mutation_p.I730N|HDAC5_uc002iff.1_Missense_Mutation_p.I731N|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.I40N|HDAC5_uc002ifh.2_Missense_Mutation_p.I730N	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	730	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)												OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42225348	42225348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42225348G>A	uc002ifi.1	+	3	362	c.177G>A	c.(175-177)AGG>AGA	p.R59R	C17orf53_uc010czq.1_Silent_p.R59R|C17orf53_uc002ifj.1_Silent_p.R59R|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	59											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42230037	42230037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42230037G>T	uc002ifi.1	+	5	1526	c.1341G>T	c.(1339-1341)GAG>GAT	p.E447D	C17orf53_uc010czq.1_Missense_Mutation_p.E447D|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	447											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42286718	42286718	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42286718A>G	uc002igb.2	-	16	1972	c.1905_splice	c.e16+1	p.K635_splice	UBTF_uc002igc.2_Splice_Site_p.K598_splice|UBTF_uc010czs.2_Splice_Site_p.K635_splice|UBTF_uc002igd.2_Splice_Site_p.K598_splice|UBTF_uc010czt.2_Splice_Site_p.K635_splice	NM_014233	NP_055048			upstream binding transcription factor, RNA						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42463260	42463260	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42463260T>G	uc002igt.1	-	3	372	c.340A>C	c.(340-342)ACT>CCT	p.T114P		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	114	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)													---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478681	42478681	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42478681G>A	uc002igw.1	-	8	828	c.764C>T	c.(763-765)ACA>ATA	p.T255I	GPATCH8_uc002igv.1_Missense_Mutation_p.T177I|GPATCH8_uc010wiz.1_Missense_Mutation_p.T177I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	255						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42928638	42928638	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42928638G>A	uc002ihn.2	-	28					EFTUD2_uc010wje.1_3'UTR|EFTUD2_uc010wjf.1_3'UTR	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42937909	42937909	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42937909T>C	uc002ihn.2	-	17	1871	c.1610A>G	c.(1609-1611)TAC>TGC	p.Y537C	EFTUD2_uc010wje.1_Missense_Mutation_p.Y502C|EFTUD2_uc010wjf.1_Missense_Mutation_p.Y527C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	537						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
C1QL1	10882	broad.mit.edu	37	17	43044935	43044935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43044935G>A	uc002ihv.2	-	1	710	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)																---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43190323	43190323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43190323G>A	uc002iib.2	-	15	2303	c.2189C>T	c.(2188-2190)GCA>GTA	p.A730V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	730	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
C17orf46	124783	broad.mit.edu	37	17	43333338	43333338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43333338C>T	uc002iis.1	-	4	307	c.211G>A	c.(211-213)GCT>ACT	p.A71T	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.A50T	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	71										large_intestine(1)|ovary(1)	2																		---	---	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473343	43473343	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43473343G>A	uc002iix.2	-						ARHGAP27_uc010dak.2_Intron	NM_199282	NP_954976			Rho GTPase activating protein 27 isoform a						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)																	---	---	---	---
IMP5	162540	broad.mit.edu	37	17	43923692	43923692	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43923692G>A	uc010wka.1	+	1	1420	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	474	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44061147	44061147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44061147C>T	uc002ijr.3	+	6	1297	c.977C>T	c.(976-978)GCA>GTA	p.A326V	MAPT_uc010dau.2_Missense_Mutation_p.A326V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	326					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44116579	44116579	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44116579G>A	uc002ikb.2	-	8	2291	c.2206C>T	c.(2206-2208)CTG>TTG	p.L736L	KIAA1267_uc002ikc.2_Silent_p.L736L|KIAA1267_uc002ikd.2_Silent_p.L736L|KIAA1267_uc010dav.2_Silent_p.L736L|KIAA1267_uc010wkb.1_Silent_p.L67L|KIAA1267_uc010wkc.1_Intron	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	736						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44248979	44248979	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44248979A>G	uc002ikb.2	-	1	616	c.531T>C	c.(529-531)AAT>AAC	p.N177N	KIAA1267_uc002ikc.2_Silent_p.N177N|KIAA1267_uc002ikd.2_Silent_p.N177N|KIAA1267_uc010dav.2_Silent_p.N177N	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	177						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44626418	44626418	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44626418T>A	uc002ikn.1	+	9	3916	c.3913T>A	c.(3913-3915)TAC>AAC	p.Y1305N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.Y266N|LRRC37A2_uc010dax.1_Missense_Mutation_p.Y235N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1305	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)														---	---	---	---
NSF	4905	broad.mit.edu	37	17	44806237	44806237	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44806237C>T	uc002iku.2	+	17	1949	c.1845C>T	c.(1843-1845)GGC>GGT	p.G615G	NSF_uc010wke.1_Silent_p.G521G|NSF_uc010wkf.1_Silent_p.G521G|NSF_uc010wkg.1_Silent_p.G610G	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	615					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)														---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45904545	45904545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45904545C>T	uc002ilz.2	-	3	274	c.248G>A	c.(247-249)CGC>CAC	p.R83H	MRPL10_uc010wky.1_Missense_Mutation_p.R44H|MRPL10_uc002ily.2_Missense_Mutation_p.R93H	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	83					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1																		---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45909496	45909496	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45909496G>A	uc002ima.2	+	2	297	c.41G>A	c.(40-42)GGC>GAC	p.G14D	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	14										ovary(1)	1																		---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46057957	46057957	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46057957A>T	uc002imr.2	+	12	1162	c.1078_splice	c.e12-2	p.L360_splice	CDK5RAP3_uc010wlc.1_Splice_Site_p.L380_splice|CDK5RAP3_uc002imq.1_Splice_Site_p.L135_splice|CDK5RAP3_uc002imu.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002ims.2_Splice_Site_p.L273_splice|CDK5RAP3_uc002imv.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002imw.2_Splice_Site_p.L202_splice|CDK5RAP3_uc002imx.2_Splice_Site_p.L135_splice	NM_176096	NP_788276			CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0																		---	---	---	---
CBX1	10951	broad.mit.edu	37	17	46153532	46153532	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46153532T>C	uc002ind.3	-	3	630	c.149A>G	c.(148-150)AAC>AGC	p.N50S	CBX1_uc002ine.3_Missense_Mutation_p.N50S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	50	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0																		---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608232	46608232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46608232T>C	uc002ink.1	-	1	41	c.35A>G	c.(34-36)TAC>TGC	p.Y12C		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	12						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
HOXB5	3215	broad.mit.edu	37	17	46669628	46669628	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46669628C>A	uc002inr.2	-	2	812	c.753G>T	c.(751-753)AAG>AAT	p.K251N	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	251	Homeobox.					nucleus	sequence-specific DNA binding				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691747	46691747	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691747T>C	uc002inw.2	-	1	555	c.320A>G	c.(319-321)TAC>TGC	p.Y107C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691765	46691765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691765T>C	uc002inw.2	-	1	537	c.302A>G	c.(301-303)GAT>GGT	p.D101G		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46804235	46804235	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46804235G>A	uc002ioa.2	-	2	928	c.772C>T	c.(772-774)CGC>TGC	p.R258C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	258	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46847394	46847394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46847394C>T	uc010wlo.1	-	15	2141	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	TTLL6_uc002iob.2_Silent_p.P395P|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.P455P|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	654						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0																		---	---	---	---
GIP	2695	broad.mit.edu	37	17	47039154	47039154	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47039154C>T	uc002iol.1	-	4	383	c.285G>A	c.(283-285)GAG>GAA	p.E95E		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	95					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1																		---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121413	47121413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47121413A>G	uc002iom.2	+	11	1619	c.1285A>G	c.(1285-1287)AAA>GAA	p.K429E	IGF2BP1_uc010dbj.2_Missense_Mutation_p.K290E	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	429	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---
GNGT2	2793	broad.mit.edu	37	17	47284707	47284707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47284707T>C	uc002ioo.1	-	3	385	c.78A>G	c.(76-78)AGA>AGG	p.R26R	ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	26					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)															---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47583768	47583768	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47583768G>A	uc002ioz.3	+	3	441	c.316G>A	c.(316-318)GTG>ATG	p.V106M		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	106	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---
DLX3	1747	broad.mit.edu	37	17	48072105	48072105	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48072105A>G	uc002ipy.2	-	1	484	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48154746	48154746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48263363	48263363	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48263363C>A	uc002iqm.2	-	50	4150	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48267694	48267694	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48267694G>A	uc002iqm.2	-	35	2571	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	815	Triple-helical region.		G -> V (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458187	48458187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48458187C>T	uc002iqs.1	+	9	1673	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	EME1_uc010dbp.1_Missense_Mutation_p.R547C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	534					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)										Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48539648	48539648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48539648C>T	uc002iqu.2	+	5	715	c.611C>T	c.(610-612)GCC>GTC	p.A204V	ACSF2_uc010wml.1_Missense_Mutation_p.A161V|ACSF2_uc010wmm.1_Missense_Mutation_p.A229V|ACSF2_uc010wmn.1_Missense_Mutation_p.A191V|ACSF2_uc010wmo.1_Missense_Mutation_p.A44V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	204					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48542719	48542719	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48542719C>A	uc010dbr.2	-	3	1073	c.1020G>T	c.(1018-1020)ACG>ACT	p.T340T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.T340T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	340	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48545855	48545855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48545855G>A	uc010dbr.2	-	1	373	c.320C>T	c.(319-321)TCC>TTC	p.S107F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.S107F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	107	LRR 2.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48603399	48603399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48603399G>A	uc010wmr.1	+	14	2231	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	653					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)															---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48626681	48626681	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48626681G>T	uc002irf.2	+	6	788	c.647G>T	c.(646-648)AGC>ATC	p.S216I	SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.S172I|SPATA20_uc002ird.2_Missense_Mutation_p.S232I|SPATA20_uc010wmv.1_Missense_Mutation_p.S242I|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	216					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)															---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678434	48678434	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678434A>G	uc002irk.1	+	19	4186	c.3814A>G	c.(3814-3816)ATC>GTC	p.I1272V	CACNA1G_uc002iri.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irj.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irl.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irm.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irn.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iro.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irp.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irq.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irr.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irs.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irt.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irv.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irw.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iru.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irx.1_Missense_Mutation_p.I1185V|CACNA1G_uc002iry.1_Missense_Mutation_p.I1185V|CACNA1G_uc002irz.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isa.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isb.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isc.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isd.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ise.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isf.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isg.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ish.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isi.1_Missense_Mutation_p.I1162V|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1272	Cytoplasmic (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678461	48678461	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678461G>A	uc002irk.1	+	19	4213	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	CACNA1G_uc002iri.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irj.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irl.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irm.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irn.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iro.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irp.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irq.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irr.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irs.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irt.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irv.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irw.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iru.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irx.1_Missense_Mutation_p.V1194M|CACNA1G_uc002iry.1_Missense_Mutation_p.V1194M|CACNA1G_uc002irz.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isa.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isb.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isc.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isd.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ise.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isf.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isg.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ish.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isi.1_Missense_Mutation_p.V1171M|CACNA1G_uc002isj.2_Missense_Mutation_p.V5M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1281	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48680184	48680184	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48680184C>T	uc002irk.1	+	20	4291	c.3919C>T	c.(3919-3921)CGC>TGC	p.R1307C	CACNA1G_uc002iri.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irj.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irl.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irm.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irn.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iro.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irp.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irq.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irr.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irs.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irt.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irv.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irw.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iru.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irx.1_Missense_Mutation_p.R1220C|CACNA1G_uc002iry.1_Missense_Mutation_p.R1220C|CACNA1G_uc002irz.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isa.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isb.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isc.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isd.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ise.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isf.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isg.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ish.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isi.1_Missense_Mutation_p.R1197C|CACNA1G_uc002isj.2_Missense_Mutation_p.R31C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1307	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940379	48940379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48940379A>G	uc002isw.2	-	1	1035	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	TOB1_uc010wmy.1_Missense_Mutation_p.Y334H|TOB1_uc010wmz.1_Missense_Mutation_p.Y334H	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	334					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)															---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49048098	49048098	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49048098C>T	uc002itc.2	-	29	4029	c.3820G>A	c.(3820-3822)GGA>AGA	p.G1274R	SPAG9_uc002itb.2_Missense_Mutation_p.G1260R|SPAG9_uc002itd.2_Missense_Mutation_p.G1264R|SPAG9_uc002ita.2_Missense_Mutation_p.G1130R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1274					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)															---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52978291	52978291	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52978291A>G	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53108540	53108540	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53108540T>A	uc002iuf.1	+	9	885	c.678T>A	c.(676-678)TAT>TAA	p.Y226*	STXBP4_uc010dcc.1_Nonsense_Mutation_p.Y151*|STXBP4_uc010dcd.1_Nonsense_Mutation_p.Y226*	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	226						cytoplasm	calcium ion binding			ovary(1)	1																		---	---	---	---
HLF	3131	broad.mit.edu	37	17	53342842	53342842	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53342842C>T	uc002iug.1	+	1					HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117			hepatic leukemia factor						multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
HLF	3131	broad.mit.edu	37	17	53392616	53392616	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53392616A>G	uc002iug.1	+	3	1005	c.480A>G	c.(478-480)ACA>ACG	p.T160T	HLF_uc010dce.1_Silent_p.T75T|HLF_uc002iuh.2_Silent_p.T75T|HLF_uc010wni.1_Silent_p.T107T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	160	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
MMD	23531	broad.mit.edu	37	17	53478860	53478860	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53478860T>A	uc002iui.2	-	6	771	c.486A>T	c.(484-486)GGA>GGT	p.G162G		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	162	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54450156	54450156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54450156A>G	uc002iun.1	+	6	795	c.760A>G	c.(760-762)AGG>GGG	p.R254G		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	254										large_intestine(1)|ovary(1)	2																		---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54981649	54981649	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54981649G>T	uc002iut.2	-	3	954	c.894C>A	c.(892-894)AGC>AGA	p.S298R	TRIM25_uc010dcj.2_Missense_Mutation_p.S90R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	298	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)																	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56276948	56276948	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56276948G>A	uc002ivq.2	+	9	1416	c.1330G>A	c.(1330-1332)GCC>ACC	p.A444T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	444					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2																		---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56284448	56284448	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56284448T>C	uc002ivr.1	-	15	1480	c.1405A>G	c.(1405-1407)AAG>GAG	p.K469E	MKS1_uc010wnq.1_Missense_Mutation_p.K266E|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	469					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1																		---	---	---	---
LPO	4025	broad.mit.edu	37	17	56345358	56345358	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56345358G>A	uc002ivt.2	+	13					LPO_uc010wns.1_3'UTR|LPO_uc010dcp.2_3'UTR|LPO_uc010dcq.2_3'UTR|LPO_uc010dcr.2_3'UTR	NM_006151	NP_006142			lactoperoxidase isoform 1 preproprotein						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2																		---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56439908	56439908	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56439908C>T	uc002iwf.2	-	5	2640	c.684G>A	c.(682-684)AGG>AGA	p.R228R	RNF43_uc010wnv.1_Silent_p.R187R|RNF43_uc002iwh.3_Silent_p.R228R|RNF43_uc002iwg.3_Silent_p.R228R|RNF43_uc010dcw.2_Silent_p.R101R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56540625	56540625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56540625G>A	uc002iwi.1	-	4	1184	c.1060C>T	c.(1060-1062)CCT>TCT	p.P354S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	354						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565215	56565215	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565215C>T	uc002iwi.1	-	1	545	c.421G>A	c.(421-423)GGC>AGC	p.G141S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	141	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565535	56565535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565535C>T	uc002iwi.1	-	1	225	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	34	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56582887	56582887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56582887C>T	uc002iwj.2	-	11	1159	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	350	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56598409	56598409	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56598409T>C	uc002iwm.1	-	10	1355	c.1227A>G	c.(1225-1227)GCA>GCG	p.A409A	SEPT4_uc002iwk.1_Silent_p.A262A|SEPT4_uc010wnw.1_Silent_p.A262A|SEPT4_uc002iwl.1_Silent_p.A262A|SEPT4_uc002iwn.1_Silent_p.A310A|SEPT4_uc002iwo.1_Silent_p.A390A|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.A424A|SEPT4_uc010wny.1_Silent_p.A401A|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	409					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)															OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56604289G>A	uc002iwm.1	-	2	239	c.111C>T	c.(109-111)TTC>TTT	p.F37F	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Silent_p.F18F|SEPT4_uc002iwp.1_Silent_p.F18F|SEPT4_uc010wnx.1_Silent_p.F52F|SEPT4_uc010wny.1_Silent_p.F29F|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56679164	56679164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56679164T>C	uc010dcz.1	-						TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56692669	56692669	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56692669G>T	uc010dcz.1	-	8	941	c.823C>A	c.(823-825)CTG>ATG	p.L275M	TEX14_uc002iwr.1_Missense_Mutation_p.L269M|TEX14_uc002iws.1_Missense_Mutation_p.L269M|TEX14_uc010dda.1_Missense_Mutation_p.L49M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	275	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57125059	57125059	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57125059A>G	uc002iwy.3	-	16	2096	c.1652T>C	c.(1651-1653)ATT>ACT	p.I551T	TRIM37_uc002iwz.3_Missense_Mutation_p.I551T|TRIM37_uc002ixa.3_Missense_Mutation_p.I429T|TRIM37_uc010woc.1_Missense_Mutation_p.I517T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	551						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
SKA2	348235	broad.mit.edu	37	17	57196750	57196750	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57196750C>G	uc002ixd.2	-	3	503	c.227G>C	c.(226-228)AGC>ACC	p.S76T	SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Intron|SKA2_uc002ixe.2_Intron	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	76					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
C17orf71	55181	broad.mit.edu	37	17	57288871	57288871	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57288871G>T	uc002ixi.2	+	1	1501	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	487					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)																	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57762469	57762469	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57762469C>A	uc002ixq.1	+	29	4930	c.4487C>A	c.(4486-4488)GCT>GAT	p.A1496D	CLTC_uc002ixp.2_Missense_Mutation_p.A1496D|CLTC_uc002ixr.1_Missense_Mutation_p.A1500D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1496	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57955509	57955509	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57955509T>A	uc002ixw.1	-	5	1002	c.724A>T	c.(724-726)ACT>TCT	p.T242S	TUBD1_uc010ddf.1_Missense_Mutation_p.T242S|TUBD1_uc010ddg.1_Missense_Mutation_p.T207S|TUBD1_uc010ddh.1_Missense_Mutation_p.T123S|TUBD1_uc010wok.1_Missense_Mutation_p.T242S|TUBD1_uc002ixx.1_Missense_Mutation_p.T242S|TUBD1_uc010wol.1_Missense_Mutation_p.T26S|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	242					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)															---	---	---	---
CA4	762	broad.mit.edu	37	17	58233921	58233921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58233921T>C	uc002iym.3	+	3	207	c.113T>C	c.(112-114)GTG>GCG	p.V38A	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	38					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)													---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58952026	58952026	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58952026C>T	uc002iyv.3	+	9	697	c.588C>T	c.(586-588)ATC>ATT	p.I196I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.I196I|BCAS3_uc002iyw.3_Silent_p.I192I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	196						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58967097	58967097	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58967097C>A	uc002iyv.3	+	10	812	c.703C>A	c.(703-705)CTT>ATT	p.L235I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.L235I|BCAS3_uc002iyw.3_Missense_Mutation_p.L231I|BCAS3_uc002iyx.1_Missense_Mutation_p.L50I|BCAS3_uc002iyy.3_Missense_Mutation_p.L6I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	235						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59480452	59480452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59480452C>T	uc010wox.1	+	3	975	c.694C>T	c.(694-696)CCG>TCG	p.P232S	TBX2_uc002ize.2_Missense_Mutation_p.P222S|TBX2_uc002izg.2_Missense_Mutation_p.P78S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	232	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0																		---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59560379	59560379	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59560379C>T	uc002izi.2	+	8	1185	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	TBX4_uc010ddo.2_Silent_p.P381P|TBX4_uc010woy.1_Silent_p.P381P	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	380					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
TLK2	11011	broad.mit.edu	37	17	60678155	60678155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60678155C>T	uc010ddp.2	+	19	2028	c.1760C>T	c.(1759-1761)CCC>CTC	p.P587L	TLK2_uc002izx.3_Missense_Mutation_p.P413L|TLK2_uc002izz.3_Missense_Mutation_p.P565L|TLK2_uc002jaa.3_Missense_Mutation_p.P533L|TLK2_uc010wpd.1_Missense_Mutation_p.P533L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	587	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2																		---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60757577	60757577	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60757577T>A	uc002jad.2	+	15	2747	c.2345T>A	c.(2344-2346)ATC>AAC	p.I782N	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	782	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60802447	60802447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60802447G>A	uc010ddr.2	-	7	2194	c.1956C>T	c.(1954-1956)TCC>TCT	p.S652S	MARCH10_uc002jag.3_Silent_p.S652S|MARCH10_uc010dds.2_Silent_p.S690S|MARCH10_uc002jah.2_Silent_p.S651S|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	652	RING-CH-type.						ligase activity|zinc ion binding				0																		---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61473221	61473221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61473221G>A	uc002jal.3	+	16	2970	c.2947G>A	c.(2947-2949)GGA>AGA	p.G983R	TANC2_uc010wpe.1_Missense_Mutation_p.G893R|TANC2_uc002jan.1_Missense_Mutation_p.G134R|TANC2_uc002jao.3_Missense_Mutation_p.G84R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	983							binding			ovary(2)	2																		---	---	---	---
ACE	1636	broad.mit.edu	37	17	61561282	61561282	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61561282A>G	uc002jau.1	+	11	1681	c.1659A>G	c.(1657-1659)CCA>CCG	p.P553P	ACE_uc010ddu.1_Silent_p.P370P|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	553	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)													---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611428	61611428	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61611428A>G	uc002jay.2	+	5	937	c.857A>G	c.(856-858)GAC>GGC	p.D286G	KCNH6_uc002jax.1_Missense_Mutation_p.D286G|KCNH6_uc010wpl.1_Missense_Mutation_p.D163G|KCNH6_uc010wpm.1_Missense_Mutation_p.D286G|KCNH6_uc002jaz.1_Missense_Mutation_p.D286G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	286	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)													---	---	---	---
DCAF7	10238	broad.mit.edu	37	17	61628105	61628105	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61628105A>T	uc002jbc.2	+	1	284	c.67A>T	c.(67-69)AAC>TAC	p.N23Y	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.N23Y	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	23					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1																		---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61902762	61902762	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61902762A>G	uc002jbz.2	-	6	513	c.435T>C	c.(433-435)TGT>TGC	p.C145C	FTSJ3_uc002jca.2_Silent_p.C145C|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	145					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61909265	61909265	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61909265C>T	uc002jcb.2	+						PSMC5_uc010ddy.2_Intron|PSMC5_uc010ddz.2_Intron|PSMC5_uc002jcc.2_Intron|PSMC5_uc002jcd.2_Intron	NM_002805	NP_002796			proteasome 26S ATPase subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61914568	61914568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61914568A>G	uc010deb.1	-	3	748	c.431T>C	c.(430-432)GTT>GCT	p.V144A	SMARCD2_uc010wpt.1_Missense_Mutation_p.V96A|SMARCD2_uc010dea.1_Missense_Mutation_p.V69A|SMARCD2_uc010dec.1_Missense_Mutation_p.V123A	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	144					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62135346T>C	uc002jdz.2	-	12	1327	c.1214A>G	c.(1213-1215)AAC>AGC	p.N405S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	405	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62290313	62290313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62290313T>C	uc002jec.2	-	2	1438	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	TEX2_uc002jed.2_Missense_Mutation_p.Y422C|TEX2_uc002jee.2_Missense_Mutation_p.Y422C	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	422					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)														---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492909	62492909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62492909G>A	uc002jei.2	-	1	261	c.178C>T	c.(178-180)CCC>TCC	p.P60S	POLG2_uc010deg.1_Missense_Mutation_p.P60S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	60					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62496396	62496396	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62496396T>C	uc002jek.2	-	13	1737	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	DDX5_uc010deh.2_Missense_Mutation_p.Y497C|DDX5_uc002jej.2_Missense_Mutation_p.Y392C|DDX5_uc010wqa.1_Missense_Mutation_p.Y418C	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	497					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---
CCDC45	90799	broad.mit.edu	37	17	62523239	62523239	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62523239G>T	uc002jem.2	+	11	1221	c.1163G>T	c.(1162-1164)AGT>ATT	p.S388I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.S224I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	388						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)															---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856650	62856650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62856650C>T	uc002jey.2	-	11	4145	c.3614G>A	c.(3613-3615)AGG>AAG	p.R1205K	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R323K|LRRC37A3_uc002jex.1_Missense_Mutation_p.R182K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R243K|LRRC37A3_uc010dek.1_Missense_Mutation_p.R211K	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1205	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62893387	62893387	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62893387C>T	uc002jey.2	-	3					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372			leucine rich repeat containing 37, member A3							integral to membrane					0																		---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221501	63221501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63221501G>A	uc002jfe.2	+	18	1899	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RGS9_uc010dem.2_Missense_Mutation_p.A594T|RGS9_uc002jfd.2_Missense_Mutation_p.A594T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A368T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	597					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63533080	63533080	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63533080G>A	uc002jfi.2	-	7	2103	c.1814C>T	c.(1813-1815)GCC>GTC	p.A605V	AXIN2_uc002jfh.2_Intron	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	605				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2														Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				---	---	---	---
CACNG1	786	broad.mit.edu	37	17	65040890	65040890	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65040890C>T	uc002jfu.2	+	1	185	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	38					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)													---	---	---	---
NOL11	25926	broad.mit.edu	37	17	65722767	65722767	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65722767A>G	uc002jgd.1	+						NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_Intron	NM_015462	NP_056277			nucleolar protein 11							nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040035	66040035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040035G>A	uc002jgk.2	+	8	1144	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	KPNA2_uc002jgl.2_Missense_Mutation_p.A338T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	338	ARM 7.|NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66416413	66416413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66416413G>A	uc002jhc.2	+	12	2183	c.1387G>A	c.(1387-1389)GCA>ACA	p.A463T	ARSG_uc002jhb.1_Missense_Mutation_p.A299T|ARSG_uc010dex.1_RNA	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	463					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66551755	66551755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66551755G>A	uc002jho.2	-	2	822	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FAM20A_uc010wqp.1_Silent_p.S40S|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	178						extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67041327	67041327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67041327T>C	uc002jhu.2	-	4	598	c.455A>G	c.(454-456)CAC>CGC	p.H152R	ABCA9_uc010dez.2_Missense_Mutation_p.H152R|ABCA9_uc002jhv.2_Missense_Mutation_p.H152R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	152					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67047255	67047255	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67047255G>A	uc002jhu.2	-	2	156	c.13C>T	c.(13-15)CGC>TGC	p.R5C	ABCA9_uc010dez.2_Missense_Mutation_p.R5C|ABCA9_uc002jhv.2_Missense_Mutation_p.R5C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	5					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67250502	67250502	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67250502C>T	uc002jif.2	-	31	5416	c.4198G>A	c.(4198-4200)GCT>ACT	p.A1400T	ABCA5_uc002jib.2_Missense_Mutation_p.A366T|ABCA5_uc002jic.2_Missense_Mutation_p.A623T|ABCA5_uc002jid.2_Missense_Mutation_p.A317T|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1400T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1400	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67293435	67293435	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67293435T>G	uc002jif.2	-	9	2551	c.1333A>C	c.(1333-1335)AGA>CGA	p.R445R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.R445R|ABCA5_uc002jih.2_Silent_p.R445R|ABCA5_uc010dfe.2_Silent_p.R445R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	445					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71166456	71166456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71166456G>A	uc002jje.2	+	2	1358	c.998G>A	c.(997-999)AGC>AAC	p.S333N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	333	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
COG1	9382	broad.mit.edu	37	17	71193082	71193082	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71193082G>T	uc002jjg.2	+	3	640	c.604G>T	c.(604-606)GGT>TGT	p.G202C	COG1_uc002jjh.2_Missense_Mutation_p.G202C|COG1_uc002jjf.1_Missense_Mutation_p.G202C	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	202					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
COG1	9382	broad.mit.edu	37	17	71199167	71199167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71199167T>C	uc002jjg.2	+	8	2138	c.2102T>C	c.(2101-2103)TTA>TCA	p.L701S	COG1_uc002jjh.2_Missense_Mutation_p.L701S|COG1_uc002jjf.1_Missense_Mutation_p.L701S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	701					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
C17orf80	55028	broad.mit.edu	37	17	71239049	71239049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71239049A>G	uc002jjm.3	+	5	1830	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	C17orf80_uc010wqu.1_Missense_Mutation_p.N510D|C17orf80_uc010dfj.2_Missense_Mutation_p.N510D|C17orf80_uc002jjk.1_Missense_Mutation_p.N546D|C17orf80_uc002jjl.3_Missense_Mutation_p.N510D	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	546	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
RPL38	6169	broad.mit.edu	37	17	72205978	72205978	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72205978A>G	uc002jjz.2	+	5					RPL38_uc002jka.2_3'UTR	NM_000999	NP_000990			ribosomal protein L38						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72227099	72227099	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72227099G>T	uc002jkc.2	+	3	406	c.375G>T	c.(373-375)TTG>TTT	p.L125F	TTYH2_uc010wqw.1_Missense_Mutation_p.L104F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	125	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72249893	72249893	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72249893G>A	uc002jkc.2	+	13	1477	c.1446_splice	c.e13-1	p.M482_splice	TTYH2_uc010wqw.1_Splice_Site_p.M461_splice|TTYH2_uc002jkd.2_Splice_Site_p.M161_splice	NM_032646	NP_116035			tweety 2 isoform 1							chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72340925	72340925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72340925A>G	uc002jkm.3	+	7	746	c.608A>G	c.(607-609)AAC>AGC	p.N203S	KIF19_uc002jkj.2_Missense_Mutation_p.N203S|KIF19_uc002jkk.2_Missense_Mutation_p.N161S|KIF19_uc002jkl.2_Missense_Mutation_p.N161S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	203	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72351389	72351389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72351389G>T	uc002jkm.3	+	20	3073	c.2935G>T	c.(2935-2937)GGG>TGG	p.G979W		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	979					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368331	72368331	+	Silent	SNP	C	T	T	rs146060702		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72368331C>T	uc010wqy.1	+	4	981	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GPR142_uc010wqx.1_Silent_p.G239G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	327	Helical; Name=5; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
CD300LB	124599	broad.mit.edu	37	17	72521943	72521943	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72521943C>A	uc002jkx.2	-	2	438	c.425G>T	c.(424-426)GGG>GTG	p.G142V	CD300LB_uc010wqz.1_Missense_Mutation_p.G142V	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	105	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1																		---	---	---	---
NAT9	26151	broad.mit.edu	37	17	72768367	72768367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72768367C>T	uc002jlq.2	-	5	458	c.384G>A	c.(382-384)ATG>ATA	p.M128I	NAT9_uc002jlr.2_Missense_Mutation_p.M127I	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	128	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0																		---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72861880	72861880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72861880G>A	uc002jly.2	-	6	657	c.570C>T	c.(568-570)GAC>GAT	p.D190D	FDXR_uc010wri.1_Silent_p.D138D|FDXR_uc010wrj.1_Silent_p.D188D|FDXR_uc002jlw.2_Translation_Start_Site|FDXR_uc002jlx.2_Silent_p.D190D|FDXR_uc002jmc.2_Silent_p.D191D|FDXR_uc010wrk.1_Silent_p.D221D|FDXR_uc010wrl.1_Silent_p.D233D|FDXR_uc002jma.2_Silent_p.D191D|FDXR_uc010wrm.1_Silent_p.D150D|FDXR_uc002jlz.2_Silent_p.D182D|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	190					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72862566	72862566	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72862566A>G	uc002jly.2	-	4	480	c.393_splice	c.e4+1	p.L131_splice	FDXR_uc010wri.1_Splice_Site_p.L79_splice|FDXR_uc010wrj.1_Splice_Site_p.L129_splice|FDXR_uc002jlw.2_Splice_Site|FDXR_uc002jlx.2_Splice_Site_p.L131_splice|FDXR_uc002jmc.2_Splice_Site_p.L132_splice|FDXR_uc010wrk.1_Splice_Site_p.L162_splice|FDXR_uc010wrl.1_Splice_Site_p.L174_splice|FDXR_uc002jma.2_Splice_Site_p.L132_splice|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Splice_Site_p.L123_splice|FDXR_uc002jmb.2_Splice_Site	NM_024417	NP_077728			ferredoxin reductase isoform 1 precursor						cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
OTOP3	347741	broad.mit.edu	37	17	72943337	72943337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72943337G>A	uc010wrr.1	+	6	1387	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	OTOP3_uc010wrq.1_Missense_Mutation_p.A445T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	463	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)																	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73089824	73089824	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73089824C>T	uc002jmr.2	+	3	465	c.93C>T	c.(91-93)CCC>CCT	p.P31P	SLC16A5_uc002jms.1_Silent_p.P31P|SLC16A5_uc002jmt.2_Silent_p.P31P|SLC16A5_uc002jmu.2_Silent_p.P31P|SLC16A5_uc010wrt.1_Silent_p.P71P	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	31	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)													---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73237473	73237473	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73237473C>A	uc002jni.1	-						GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Intron|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Intron	NM_138619	NP_619525			ADP-ribosylation factor binding protein 3						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73240709	73240709	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73240709G>A	uc002jni.1	-	4	300	c.291C>T	c.(289-291)GTC>GTT	p.V97V	GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Silent_p.V25V|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Silent_p.V25V|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	97	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73664707	73664707	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73664707T>C	uc002jpe.2	+	2	270	c.216_splice	c.e2+2	p.S72_splice	RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Splice_Site_p.S72_splice|SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Splice_Site|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.S72_splice	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73700897	73700897	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73700897A>G	uc002jpe.2	+						SAP30BP_uc002jpc.1_Intron|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_Intron|SAP30BP_uc002jpf.2_Intron	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73720778	73720778	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73720778A>G	uc002jpg.2	+	2					ITGB4_uc002jph.2_5'UTR|ITGB4_uc010dgo.2_5'UTR|ITGB4_uc002jpi.3_5'UTR|ITGB4_uc010dgp.1_5'UTR|ITGB4_uc002jpj.2_5'UTR	NM_000213	NP_000204			integrin beta 4 isoform 1 precursor						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73831532	73831532	+	Silent	SNP	G	A	A	rs143190205		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73831532G>A	uc002jpp.2	-	20	2186	c.1806C>T	c.(1804-1806)AAC>AAT	p.N602N	UNC13D_uc010wsk.1_Silent_p.N602N|UNC13D_uc002jpq.1_Silent_p.N252N	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	602	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)											Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73956385	73956385	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73956385T>C	uc002jqf.2	-						ACOX1_uc010wsq.1_Missense_Mutation_p.Q76R|ACOX1_uc002jqe.2_Missense_Mutation_p.Q114R|ACOX1_uc010wsr.1_Missense_Mutation_p.Q46R	NM_007292	NP_009223			acyl-Coenzyme A oxidase 1 isoform b						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CDK3	1018	broad.mit.edu	37	17	73998612	73998612	+	Silent	SNP	C	T	T	rs61747000	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73998612C>T	uc010dgt.2	+	6	583	c.507C>T	c.(505-507)CGC>CGT	p.R169R	CDK3_uc002jqg.3_Silent_p.R197R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003870	74003870	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74003870G>A	uc002jqi.2	-	22	5644	c.5416C>T	c.(5416-5418)CCC>TCC	p.P1806S	EVPL_uc010wss.1_Missense_Mutation_p.P1828S|EVPL_uc010wst.1_Missense_Mutation_p.P1276S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1806	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74013872	74013872	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74013872A>T	uc002jqi.2	-	14	1886	c.1658T>A	c.(1657-1659)CTG>CAG	p.L553Q	EVPL_uc010wss.1_Missense_Mutation_p.L575Q|EVPL_uc010wst.1_Missense_Mutation_p.L23Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	553	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163130	74163130	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163130G>T	uc002jqz.2	-	5	590	c.521C>A	c.(520-522)CCC>CAC	p.P174H	RNF157_uc002jra.2_Missense_Mutation_p.P174H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	174							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163886	74163886	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163886A>G	uc002jqz.2	-						RNF157_uc002jra.2_Intron	NM_052916	NP_443148			ring finger protein 157								zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74307730	74307730	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74307730T>C	uc010wta.1	-	10	1497	c.1051A>G	c.(1051-1053)AAG>GAG	p.K351E	PRPSAP1_uc010wtb.1_Missense_Mutation_p.K248E	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	322					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1																		---	---	---	---
SPHK1	8877	broad.mit.edu	37	17	74383020	74383020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74383020G>A	uc002jrf.1	+	8	1317	c.508G>A	c.(508-510)GCC>ACC	p.A170T	SPHK1_uc002jrg.1_Missense_Mutation_p.A119T|SPHK1_uc002jrh.2_Missense_Mutation_p.A184T|SPHK1_uc002jrj.2_Missense_Mutation_p.A256T|SPHK1_uc002jri.2_Missense_Mutation_p.A170T|SPHK1_uc002jrk.3_Missense_Mutation_p.A170T|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	170					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74387043	74387043	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74387043T>C	uc002jrm.3	-	18	3925	c.3860A>G	c.(3859-3861)GAG>GGG	p.E1287G	UBE2O_uc002jrl.3_Missense_Mutation_p.E891G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1287							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394418	74394418	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74394418T>C	uc002jrm.3	-	12	2008	c.1943A>G	c.(1942-1944)CAC>CGC	p.H648R	UBE2O_uc002jrn.3_Missense_Mutation_p.H648R|UBE2O_uc002jrl.3_Missense_Mutation_p.H251R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74395720	74395720	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74395720C>T	uc002jrm.3	-	9	1503	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	UBE2O_uc002jrn.3_Missense_Mutation_p.A480T|UBE2O_uc002jrl.3_Missense_Mutation_p.A83T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	480							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75209491	75209491	+	Silent	SNP	C	T	T	rs143199360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75209491C>T	uc002jto.2	+	16	2226	c.1959C>T	c.(1957-1959)GAC>GAT	p.D653D	SEC14L1_uc010dhc.2_Silent_p.D653D|SEC14L1_uc010wth.1_Silent_p.D653D|SEC14L1_uc002jtm.2_Silent_p.D653D|SEC14L1_uc010wti.1_Silent_p.D619D|SEC14L1_uc010wtj.1_Nonsense_Mutation_p.R142*|SEC14L1_uc002jtr.2_Silent_p.D47D	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	653	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75210055	75210055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75210055G>A	uc002jto.2	+	17	2365	c.2098G>A	c.(2098-2100)GCC>ACC	p.A700T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A700T|SEC14L1_uc010wth.1_Missense_Mutation_p.A700T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A700T|SEC14L1_uc010wti.1_Missense_Mutation_p.A666T|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	700					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEPT9	10801	broad.mit.edu	37	17	75478396	75478396	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75478396G>A	uc002jts.3	+	4	1018	c.892G>A	c.(892-894)GAG>AAG	p.E298K	SEPT9_uc010wtk.1_Missense_Mutation_p.E279K|SEPT9_uc002jtt.3_Missense_Mutation_p.E134K|SEPT9_uc002jtu.3_Missense_Mutation_p.E280K|SEPT9_uc002jtv.2_Missense_Mutation_p.E291K|SEPT9_uc002jtw.2_Missense_Mutation_p.E134K|SEPT9_uc002jtx.1_Missense_Mutation_p.E134K|SEPT9_uc010wtl.1_Missense_Mutation_p.E74K|SEPT9_uc002jty.3_Missense_Mutation_p.E47K|SEPT9_uc010wtm.1_Missense_Mutation_p.E47K|SEPT9_uc010wtn.1_Missense_Mutation_p.E47K|SEPT9_uc010dhd.2_Missense_Mutation_p.E186K	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	298					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)															---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046762	76046762	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76046762C>T	uc002jud.2	+	4	2219	c.1619C>T	c.(1618-1620)TCG>TTG	p.S540L	TNRC6C_uc002juf.2_Missense_Mutation_p.S540L|TNRC6C_uc002jue.2_Missense_Mutation_p.S540L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	540	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---
TMC8	147138	broad.mit.edu	37	17	76128901	76128901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76128901C>T	uc002jup.2	+	5	863	c.481C>T	c.(481-483)CCT>TCT	p.P161S	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	161	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)											Epidermodysplasia_Verruciformis_Familial_Clustering_of				---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76471424	76471424	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76471424T>C	uc002jvs.2	-											Homo sapiens mRNA for DNAH17 variant protein, partial cds.											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76968044	76968044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76968044A>G	uc002jwh.2	-	6	1551	c.1372T>C	c.(1372-1374)TAC>CAC	p.Y458H	LGALS3BP_uc002jwi.2_Missense_Mutation_p.Y264H|LGALS3BP_uc010dhr.2_Missense_Mutation_p.Y264H	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	458					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)													OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77770303	77770303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77770303A>G	uc002jxd.1	-	2	199	c.106T>C	c.(106-108)TCG>CCG	p.S36P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	36	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77807929	77807929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77807929C>T	uc002jxe.2	-	5	1675	c.1512G>A	c.(1510-1512)GCG>GCA	p.A504A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78069165	78069165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78069165G>A	uc010dht.2	+	18	2963	c.2936G>A	c.(2935-2937)CGC>CAC	p.R979H	CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	979					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78195462	78195462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78195462C>T	uc002jyb.1	+	3	372	c.103C>T	c.(103-105)CCC>TCC	p.P35S	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.P35S|SLC26A11_uc002jyd.1_Missense_Mutation_p.P35S|SLC26A11_uc010dhv.1_Missense_Mutation_p.P35S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	35	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	78280153	78280153	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78280153T>C	uc002jyf.2	+	12	2455	c.2312T>C	c.(2311-2313)GTT>GCT	p.V771A	uc002jyg.1_Missense_Mutation_p.V502A	NM_020954	NP_066005			hypothetical protein LOC57714																														---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78314040	78314040	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78314040C>T	uc002jyh.1	+	1	315	c.92C>T	c.(91-93)GCC>GTC	p.A31V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78317653	78317653	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78317653T>A	uc002jyh.1	+							NM_020914	NP_065965			ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78318781	78318781	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318781C>T	uc002jyh.1	+	4	1088	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321547	78321547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321547G>A	uc002jyh.1	+	4	3854	c.3631G>A	c.(3631-3633)GTC>ATC	p.V1211I		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321938	78321938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321938T>C	uc002jyh.1	+	4	4245	c.4022T>C	c.(4021-4023)GTC>GCC	p.V1341A		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78343340	78343340	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78343340G>A	uc002jyh.1	+	20	6636	c.6413G>A	c.(6412-6414)TGC>TAC	p.C2138Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C520Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78360533	78360533	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78360533A>C	uc002jyh.1	+	38	9206	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
AZI1	22994	broad.mit.edu	37	17	79177336	79177336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79177336G>A	uc002jzp.1	-	6	787	c.587C>T	c.(586-588)GCG>GTG	p.A196V	AZI1_uc002jzn.1_Missense_Mutation_p.A196V|AZI1_uc002jzo.1_Missense_Mutation_p.A196V|AZI1_uc010wum.1_Missense_Mutation_p.A196V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	196					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79226324	79226324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79226324G>A	uc002jzz.1	-	13	1991	c.1616C>T	c.(1615-1617)GCG>GTG	p.A539V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A457V|SLC38A10_uc002kab.2_Missense_Mutation_p.A539V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	539					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79254484	79254484	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79254484C>A	uc002jzz.1	-	6	926	c.551G>T	c.(550-552)CGG>CTG	p.R184L	SLC38A10_uc002jzy.1_Missense_Mutation_p.R102L|SLC38A10_uc002kab.2_Missense_Mutation_p.R184L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	184					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79384943	79384943	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79384943G>A	uc002kaf.2	+							NM_001080519	NP_001073988			BAH domain and coiled-coil containing 1								DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)															---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79687071	79687071	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79687071G>T	uc002kbi.2	+	11	914	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	SLC25A10_uc010wut.1_Missense_Mutation_p.Q431H|SLC25A10_uc010dif.2_Missense_Mutation_p.Q285H|SLC25A10_uc010wuu.1_Missense_Mutation_p.Q230H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	276	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)													---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79803083	79803083	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79803083G>A	uc002kbn.1	-	10	1580	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	P4HB_uc002kbl.1_Silent_p.R138R|P4HB_uc002kbm.1_Silent_p.R138R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	461	Thioredoxin 2.	Lowers pKa of C-terminal Cys of second active site (By similarity).			cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79804462	79804462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79804462C>T	uc002kbn.1	-	7	1096	c.899G>A	c.(898-900)CGC>CAC	p.R300H	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	300					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
ARHGDIA	396	broad.mit.edu	37	17	79826767	79826767	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79826767C>A	uc002kbp.2	-	5	639	c.600G>T	c.(598-600)AAG>AAT	p.K200N	ARHGDIA_uc002kjk.1_Missense_Mutation_p.K75N|ARHGDIA_uc002kbq.2_Missense_Mutation_p.K200N|ARHGDIA_uc002kbr.2_Missense_Mutation_p.R173M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Intron	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	200					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79873553	79873553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79873553G>A	uc002kcj.1	-	4	374	c.341C>T	c.(340-342)GCG>GTG	p.A114V	SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_Missense_Mutation_p.A32V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	114	Deacetylase sirtuin-type.|NAD (By similarity).				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
RAC3	5881	broad.mit.edu	37	17	79990609	79990609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79990609G>A	uc002kdf.2	+	3	236	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	44					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80011878	80011878	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80011878C>T	uc002kdl.1	+	3	306	c.261C>T	c.(259-261)AAC>AAT	p.N87N	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Silent_p.N127N|GPS1_uc010dij.1_Silent_p.N127N|GPS1_uc002kdm.1_Silent_p.N71N|GPS1_uc002kdn.1_Silent_p.N87N|GPS1_uc002kdo.1_Silent_p.N87N|GPS1_uc010wvh.1_Silent_p.N79N	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	87					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80014394	80014394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80014394T>C	uc002kdl.1	+	10	1141	c.1096T>C	c.(1096-1098)TAC>CAC	p.Y366H	GPS1_uc002kdk.1_Missense_Mutation_p.Y402H|GPS1_uc010dij.1_Missense_Mutation_p.Y401H|GPS1_uc002kdm.1_Missense_Mutation_p.Y346H|GPS1_uc002kdn.1_Missense_Mutation_p.Y362H|GPS1_uc002kdo.1_Missense_Mutation_p.Y365H|GPS1_uc010wvh.1_Missense_Mutation_p.Y358H	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	366	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80136446	80136446	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80136446T>C	uc002kdz.1	-	11	1765	c.1410A>G	c.(1408-1410)CTA>CTG	p.L470L	CCDC57_uc002kdx.1_Silent_p.L470L|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	470	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80159603	80159603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80159603C>T	uc002kdz.1	-	3	573	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CCDC57_uc002kdx.1_Missense_Mutation_p.R73H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	73	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
C17orf62	79415	broad.mit.edu	37	17	80402405	80402405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80402405C>T	uc002kez.2	-	5	409	c.361G>A	c.(361-363)GGG>AGG	p.G121R	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G121R|C17orf62_uc010dir.2_Missense_Mutation_p.G121R|C17orf62_uc002kfb.3_Missense_Mutation_p.G121R|C17orf62_uc002kfc.3_Missense_Mutation_p.G107R|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	121						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
NARF	26502	broad.mit.edu	37	17	80441653	80441653	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80441653T>G	uc002kfg.3	+	8	971	c.831T>G	c.(829-831)ACT>ACG	p.T277T	NARF_uc002kff.3_Silent_p.T218T|NARF_uc010wvp.1_Silent_p.T149T|NARF_uc010dit.2_Silent_p.T323T|NARF_uc002kfj.3_Silent_p.T229T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.T323T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	277						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
NARF	26502	broad.mit.edu	37	17	80443439	80443439	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80443439C>A	uc002kfg.3	+	10	1178	c.1038C>A	c.(1036-1038)GCC>GCA	p.A346A	NARF_uc002kff.3_Silent_p.A287A|NARF_uc010dit.2_Silent_p.A392A|NARF_uc002kfj.3_Silent_p.A298A|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.A392A|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	346						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80861301	80861301	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
THOC1	9984	broad.mit.edu	37	18	214854	214854	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:214854A>C	uc002kkj.3	-	21	1786	c.1746T>G	c.(1744-1746)GGT>GGG	p.G582G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Silent_p.G206G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	582	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	480755	480755	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:480755C>T	uc002kkm.2	-	2	225	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	4	Cytoplasmic (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580531	580531	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:580531C>T	uc002kko.1	+	1	165	c.123C>T	c.(121-123)GAC>GAT	p.D41D		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	41	1 (Probable).|EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TYMS	7298	broad.mit.edu	37	18	659673	659673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:659673T>C	uc010dka.1	+	2	377	c.238T>C	c.(238-240)TTC>CTC	p.F80L	C18orf56_uc002kkr.2_5'Flank|TYMS_uc010dkb.1_Missense_Mutation_p.F80L|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	80					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)													---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2885039	2885039	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2885039G>T	uc002kln.2	+	3	494	c.335G>T	c.(334-336)GGC>GTC	p.G112V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	112	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2937687	2937687	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2937687T>C	uc002klo.2	-							NM_014646	NP_055461			lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)														---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3142042	3142042	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3142042G>A	uc002klp.2	-	14	2254	c.1920C>T	c.(1918-1920)CCC>CCT	p.P640P	MYOM1_uc002klq.2_Silent_p.P640P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	640	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879483	3879483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3879483T>C	uc002kmf.2	-	1	653	c.586A>G	c.(586-588)AGC>GGC	p.S196G	DLGAP1_uc010wyz.1_Missense_Mutation_p.S196G|DLGAP1_uc002kmk.2_Missense_Mutation_p.S196G|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	196					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
ZFP161	7541	broad.mit.edu	37	18	5291330	5291330	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5291330T>C	uc002kmq.2	-	4	1038	c.877A>G	c.(877-879)AGG>GGG	p.R293G	ZFP161_uc002kmr.2_Missense_Mutation_p.R293G|ZFP161_uc010dkp.2_Missense_Mutation_p.R293G	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	293	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395110	5395110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5395110T>C	uc002kmt.1	-	21	3195	c.3109A>G	c.(3109-3111)AAG>GAG	p.K1037E	EPB41L3_uc010wzh.1_Missense_Mutation_p.K868E|EPB41L3_uc002kmu.1_Missense_Mutation_p.K815E|EPB41L3_uc010dkq.1_Missense_Mutation_p.K706E|EPB41L3_uc002kms.1_Missense_Mutation_p.K272E|EPB41L3_uc010wze.1_Missense_Mutation_p.K342E|EPB41L3_uc010wzf.1_Missense_Mutation_p.K334E|EPB41L3_uc010wzg.1_Missense_Mutation_p.K309E|EPB41L3_uc010dkr.2_Missense_Mutation_p.K429E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1037	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5969507	5969507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5969507G>A	uc002kmz.3	-	18	1686	c.1526C>T	c.(1525-1527)ACG>ATG	p.T509M	L3MBTL4_uc010dkt.2_Missense_Mutation_p.T509M|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T338M	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	509					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943249	6943249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6943249G>A	uc002knm.2	-	62	9091	c.8997C>T	c.(8995-8997)GGC>GGT	p.G2999G	LAMA1_uc002knk.2_Silent_p.G329G|LAMA1_uc002knl.2_Silent_p.G452G|LAMA1_uc010wzj.1_Silent_p.G2475G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2999	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6949194	6949194	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949194A>G	uc002knm.2	-	59	8556	c.8462T>C	c.(8461-8463)GTG>GCG	p.V2821A	LAMA1_uc002knk.2_Missense_Mutation_p.V151A|LAMA1_uc002knl.2_Missense_Mutation_p.V274A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2297A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2821	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7049169	7049169	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049169G>A	uc002knm.2	-	5	770	c.676C>T	c.(676-678)CTT>TTT	p.L226F	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	226	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8069784	8069784	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8069784C>T	uc002knn.3	+	8	1736	c.1233C>T	c.(1231-1233)CAC>CAT	p.H411H	PTPRM_uc010dkv.2_Silent_p.H411H|PTPRM_uc010wzl.1_Silent_p.H198H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	411	Fibronectin type-III 2.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8370924	8370924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8370924A>T	uc002knn.3	+	22	3555	c.3052A>T	c.(3052-3054)ATA>TTA	p.I1018L	PTPRM_uc010dkv.2_Missense_Mutation_p.I1031L|PTPRM_uc010wzl.1_Missense_Mutation_p.I805L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1018	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8376167	8376167	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8376167C>T	uc002knn.3	+	23	3759	c.3256C>T	c.(3256-3258)CCC>TCC	p.P1086S	PTPRM_uc010dkv.2_Missense_Mutation_p.P1099S|PTPRM_uc010wzl.1_Missense_Mutation_p.P873S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1086	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9211676	9211676	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9211676T>C	uc002knv.2	+	6	803	c.546T>C	c.(544-546)AAT>AAC	p.N182N	ANKRD12_uc010wzn.1_Silent_p.N182N|ANKRD12_uc002knw.2_Silent_p.N159N|ANKRD12_uc002knx.2_Silent_p.N159N	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	182						nucleus				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9522203	9522203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9522203A>G	uc002kob.2	+	4	972	c.749A>G	c.(748-750)GAG>GGG	p.E250G	RALBP1_uc002koc.2_Missense_Mutation_p.E250G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	250	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9535901	9535901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9535901C>T	uc002kob.2	+	10	2157	c.1934C>T	c.(1933-1935)TCG>TTG	p.S645L	RALBP1_uc002koc.2_Missense_Mutation_p.S645L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	645					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10671647	10671647	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10671647T>G	uc002kor.3	-	14	2147	c.2007A>C	c.(2005-2007)ACA>ACC	p.T669T	FAM38B_uc002koq.2_Silent_p.T504T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2712						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10696277	10696277	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10696277C>T	uc002kor.3	-	5	657	c.517G>A	c.(517-519)GCA>ACA	p.A173T	FAM38B_uc002koq.2_Missense_Mutation_p.A71T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2216						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
CIDEA	1149	broad.mit.edu	37	18	12274124	12274124	+	Silent	SNP	G	A	A	rs148408713		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12274124G>A	uc002kqt.3	+	4	428	c.363G>A	c.(361-363)CCG>CCA	p.P121P	CIDEA_uc002kqu.3_Silent_p.P155P|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	121					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12367305	12367305	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12367305A>G	uc002kqz.1	-	4	482	c.369T>C	c.(367-369)GAT>GAC	p.D123D		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	123					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)													---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678171	12678171	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12678171G>A	uc002kri.2	-	10	1716	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.D342D|CEP76_uc010wzz.1_Silent_p.D445D	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	520					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12699092	12699092	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12699092A>T	uc002kri.2	-	4	562	c.406T>A	c.(406-408)TTT>ATT	p.F136I	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	136					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
PSMG2	56984	broad.mit.edu	37	18	12724555	12724555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12724555C>T	uc002krk.2	+	6	682	c.639C>T	c.(637-639)AAC>AAT	p.N213N	PSMG2_uc002krg.2_Silent_p.N182N|PSMG2_uc002krj.1_Silent_p.N213N	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	213					proteasome assembly	nucleus	protein binding				0																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13087145	13087145	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13087145C>T	uc010xac.1	+	31	5826	c.5746C>T	c.(5746-5748)CGC>TGC	p.R1916C	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1441C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R338C|CEP192_uc002krw.2_Missense_Mutation_p.R65C|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1916										ovary(4)|pancreas(1)	5																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13099478	13099478	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13099478T>C	uc010xac.1	+	37	6641	c.6561T>C	c.(6559-6561)AGT>AGC	p.S2187S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S1712S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.S609S|CEP192_uc002krw.2_Silent_p.S336S|CEP192_uc002krx.2_Silent_p.S191S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2187										ovary(4)|pancreas(1)	5																		---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13438344	13438344	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13438344C>G	uc002ksa.2	+	4	810	c.142C>G	c.(142-144)CTC>GTC	p.L48V	C18orf1_uc002ksb.2_Missense_Mutation_p.L48V	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	48	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13645246	13645246	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13645246A>G	uc002ksa.2	+	7	1179	c.511A>G	c.(511-513)ACC>GCC	p.T171A	C18orf1_uc002ksb.2_Missense_Mutation_p.T153A|C18orf1_uc002kse.2_Missense_Mutation_p.T134A|C18orf1_uc002ksf.2_Missense_Mutation_p.T116A|C18orf1_uc002ksg.1_Missense_Mutation_p.T94A|C18orf1_uc002ksh.1_Missense_Mutation_p.T113A|C18orf1_uc002ksi.1_Missense_Mutation_p.T95A	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	171	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf19	125228	broad.mit.edu	37	18	13681828	13681828	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13681828A>T	uc010dlh.2	-	3	681	c.249T>A	c.(247-249)CAT>CAA	p.H83Q	C18orf19_uc010dlg.2_Missense_Mutation_p.H83Q|C18orf19_uc010dli.2_Missense_Mutation_p.H83Q|C18orf19_uc002ksj.3_Missense_Mutation_p.H83Q|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	83						integral to membrane				breast(2)	2																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13734595	13734595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13734595A>G	uc002ksk.1	+	3	617	c.550A>G	c.(550-552)ATT>GTT	p.I184V	RNMT_uc002ksl.1_Missense_Mutation_p.I184V|RNMT_uc002ksm.1_Missense_Mutation_p.I184V|RNMT_uc010dlk.2_Missense_Mutation_p.I184V|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	184					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13742637	13742637	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13742637T>C	uc002ksk.1	+	7	1192	c.1125T>C	c.(1123-1125)TTT>TTC	p.F375F	RNMT_uc002ksl.1_Silent_p.F375F|RNMT_uc002ksm.1_Silent_p.F375F|RNMT_uc010dlk.2_Silent_p.F375F|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	375					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
SNRPD1	6632	broad.mit.edu	37	18	19203854	19203854	+	Silent	SNP	A	G	G	rs141663553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19203854A>G	uc002ktj.1	+	3	368	c.237A>G	c.(235-237)CTA>CTG	p.L79L		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0																		---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19762796	19762796	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19762796A>T	uc002ktt.1	+	5	1772	c.1507A>T	c.(1507-1509)ACT>TCT	p.T503S	GATA6_uc002ktu.1_Missense_Mutation_p.T503S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	503					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)															---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20814617	20814617	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:20814617T>C	uc002kuc.2	+	5	1134	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Silent_p.S113S	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	378	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
C18orf8	29919	broad.mit.edu	37	18	21109232	21109232	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21109232C>T	uc010xax.1	+	16	1507	c.1386C>T	c.(1384-1386)ACC>ACT	p.T462T	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Silent_p.T86T|NPC1_uc010dlu.1_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	462										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413846	21413846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413846G>A	uc002kuq.2	+	24	2964	c.2878G>A	c.(2878-2880)GTC>ATC	p.V960I	LAMA3_uc002kur.2_Missense_Mutation_p.V960I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	960	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413908	21413908	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413908G>A	uc002kuq.2	+	24	3026	c.2940G>A	c.(2938-2940)GGG>GGA	p.G980G	LAMA3_uc002kur.2_Silent_p.G980G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	980	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21496586	21496586	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21496586C>T	uc002kuq.2	+	60	7936	c.7850C>T	c.(7849-7851)GCT>GTT	p.A2617V	LAMA3_uc002kur.2_Missense_Mutation_p.A2561V|LAMA3_uc002kus.3_Missense_Mutation_p.A1008V|LAMA3_uc002kut.3_Missense_Mutation_p.A952V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2617	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21501490	21501490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21501490T>C	uc002kuq.2	+	62	8204	c.8118T>C	c.(8116-8118)GGT>GGC	p.G2706G	LAMA3_uc002kur.2_Silent_p.G2650G|LAMA3_uc002kus.3_Silent_p.G1097G|LAMA3_uc002kut.3_Silent_p.G1041G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2706	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21508129	21508129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21508129T>A	uc002kuq.2	+	63	8306	c.8220T>A	c.(8218-8220)AAT>AAA	p.N2740K	LAMA3_uc002kur.2_Missense_Mutation_p.N2684K|LAMA3_uc002kus.3_Missense_Mutation_p.N1131K|LAMA3_uc002kut.3_Missense_Mutation_p.N1075K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2740	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
CABYR	26256	broad.mit.edu	37	18	21739458	21739458	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21739458A>T	uc002kux.2	+	5					CABYR_uc010xbb.1_3'UTR|CABYR_uc002kuy.2_Silent_p.G188G|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_3'UTR|CABYR_uc002kvb.2_Silent_p.G90G|CABYR_uc002kvc.2_Silent_p.G188G|CABYR_uc010dlw.2_Intron	NM_012189	NP_036321			calcium-binding tyrosine						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)																	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21819305	21819305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21819305T>C	uc002kve.2	-	16	1497	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	OSBPL1A_uc002kvd.2_5'UTR|OSBPL1A_uc010xbc.1_Silent_p.K59K|OSBPL1A_uc002kvf.3_Silent_p.K221K	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	441	Potential.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057338	22057338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22057338T>C	uc002kvi.2	+	3	1085	c.985T>C	c.(985-987)TAT>CAT	p.Y329H	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.Y241H	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	329	Extracellular (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)													---	---	---	---
SS18	6760	broad.mit.edu	37	18	23632767	23632767	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23632767A>T	uc002kvm.2	-	5	506	c.428T>A	c.(427-429)CTC>CAC	p.L143H	SS18_uc002kvn.2_Missense_Mutation_p.L143H|SS18_uc010xbf.1_Missense_Mutation_p.L61H|SS18_uc010xbg.1_Missense_Mutation_p.L91H|SS18_uc010xbh.1_Missense_Mutation_p.L91H|SS18_uc010xbi.1_Missense_Mutation_p.L120H|SS18_uc010dlz.1_Missense_Mutation_p.L91H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	143	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23713918	23713918	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23713918T>C	uc002kvq.2	+	1					PSMA8_uc002kvo.2_5'UTR|PSMA8_uc002kvp.2_5'UTR|PSMA8_uc002kvr.2_5'UTR	NM_144662	NP_653263			proteasome alpha 8 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23738101	23738101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23738101A>G	uc002kvq.2	+	4	502	c.388A>G	c.(388-390)AAT>GAT	p.N130D	PSMA8_uc002kvo.2_Missense_Mutation_p.N86D|PSMA8_uc002kvp.2_Missense_Mutation_p.N124D|PSMA8_uc002kvr.2_Missense_Mutation_p.N98D	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23854890	23854890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23854890T>C	uc002kvu.3	+						TAF4B_uc002kvs.3_Intron|TAF4B_uc002kvt.3_Intron	NM_005640	NP_005631			TAF4b RNA polymerase II, TATA box binding						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)															---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24035751	24035751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24035751G>A	uc002kvw.2	-	5	1290	c.730C>T	c.(730-732)CGT>TGT	p.R244C	KCTD1_uc010xbj.1_Missense_Mutation_p.R852C|KCTD1_uc010xbk.1_Missense_Mutation_p.R244C|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	244					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)															---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25543415	25543415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25543415C>T	uc002kwg.2	-	15	2879	c.2420G>A	c.(2419-2421)CGA>CAA	p.R807Q	CDH2_uc010xbn.1_Missense_Mutation_p.R776Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	807	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4																		---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28659862	28659862	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28659862C>A	uc002kwl.3	-	11	2068	c.1614G>T	c.(1612-1614)GAG>GAT	p.E538D	DSC2_uc002kwk.3_Missense_Mutation_p.E538D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	538	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)															---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28986263	28986263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28986263A>G	uc002kwq.2	+	12	1995	c.1860A>G	c.(1858-1860)CAA>CAG	p.Q620Q	DSG4_uc002kwr.2_Silent_p.Q620Q	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	620	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)															---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29116236	29116236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29116236C>A	uc002kwu.3	+	11	1683	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	499	Extracellular (Potential).|Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)															---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29410886	29410886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29410886A>G	uc002kxc.3	-	29	4504	c.4140T>C	c.(4138-4140)CTT>CTC	p.L1380L	KIAA1012_uc002kxb.3_Silent_p.L1326L|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1380					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29432581	29432581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29432581G>A	uc002kxc.3	-	23	3843	c.3479C>T	c.(3478-3480)GCA>GTA	p.A1160V	KIAA1012_uc002kxb.3_Missense_Mutation_p.A1106V|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1160					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.A1160G(1)			0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29617122	29617122	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29617122T>C	uc002kxf.1	+	2	590	c.208T>C	c.(208-210)TGG>CGG	p.W70R		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	70	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29645945	29645945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29645945T>C	uc002kxf.1	+	5	967	c.585T>C	c.(583-585)AGT>AGC	p.S195S		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	195					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350377	30350377	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30350377A>T	uc002kxm.1	-	2	566	c.178T>A	c.(178-180)TCG>ACG	p.S60T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	60	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31314382	31314382	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31314382A>G	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31319679	31319679	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31319679T>A	uc010dmg.1	+	11	2366	c.2311T>A	c.(2311-2313)TCA>ACA	p.S771T	ASXL3_uc002kxq.2_Missense_Mutation_p.S478T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	771	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323514	31323514	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31323514T>A	uc010dmg.1	+	12	3757	c.3702T>A	c.(3700-3702)AAT>AAA	p.N1234K	ASXL3_uc002kxq.2_Missense_Mutation_p.N941K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31599387	31599387	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31599387C>T	uc010dmi.2	-	6	1180	c.951G>A	c.(949-951)TCG>TCA	p.S317S	NOL4_uc010xbs.1_Silent_p.S32S|NOL4_uc002kxr.3_Silent_p.S153S|NOL4_uc010xbt.1_Silent_p.S243S|NOL4_uc010dmh.2_Silent_p.S243S|NOL4_uc010xbu.1_Silent_p.S317S|NOL4_uc002kxt.3_Silent_p.S317S|NOL4_uc010xbv.1_Silent_p.S66S|NOL4_uc010xbw.1_Silent_p.S203S	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	317						nucleolus	RNA binding			ovary(3)	3																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32418700	32418700	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32418700C>A	uc010dmn.1	+						DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF396	252884	broad.mit.edu	37	18	32948335	32948335	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32948335A>T	uc010xcf.1	-	5	1114	c.982T>A	c.(982-984)TCA>ACA	p.S328T		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	Error:Variant_position_missing_in_Q96N95_after_alignment					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33266976	33266976	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33266976T>C	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
RPRD1A	55197	broad.mit.edu	37	18	33607161	33607161	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33607161A>G	uc002kzf.1	-	5	605	c.599T>C	c.(598-600)TTA>TCA	p.L200S	RPRD1A_uc002kze.1_Missense_Mutation_p.L164S|RPRD1A_uc002kzg.2_Missense_Mutation_p.L200S|RPRD1A_uc010dmw.2_Missense_Mutation_p.L164S|RPRD1A_uc010dmx.2_Missense_Mutation_p.L200S	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	200										ovary(1)|breast(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33689669	33689669	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33689669A>G	uc010dmy.2	-	10	2445	c.2155T>C	c.(2155-2157)TGT>CGT	p.C719R		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	719	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33702206	33702206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33702206T>C	uc010dmy.2	-	5	1458	c.1168A>G	c.(1168-1170)AGC>GGC	p.S390G	SLC39A6_uc002kzj.2_Missense_Mutation_p.S115G	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	390	His-rich.|Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33726313	33726313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33726313T>C	uc002kzk.1	+	11	1104	c.1094T>C	c.(1093-1095)TTG>TCG	p.L365S	ELP2_uc010xcg.1_Missense_Mutation_p.L430S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L339S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.L295S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	365	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33795876	33795876	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33795876C>G	uc002kzq.3	+	8	1756	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	578					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34205603	34205603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34205603C>T	uc002kzt.1	+	10	1184	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	FHOD3_uc002kzr.1_Missense_Mutation_p.R363C|FHOD3_uc002kzs.1_Missense_Mutation_p.R363C|FHOD3_uc002kzu.1_Missense_Mutation_p.R188C|FHOD3_uc010dmz.1_Missense_Mutation_p.R116C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	363	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
C18orf10	25941	broad.mit.edu	37	18	34398915	34398915	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34398915T>C	uc002kzw.1	-	2	535	c.107A>G	c.(106-108)GAA>GGA	p.E36G	C18orf10_uc002kzv.1_Missense_Mutation_p.E36G|C18orf10_uc010xci.1_Missense_Mutation_p.E36G|C18orf10_uc002kzx.1_Missense_Mutation_p.E36G|C18orf10_uc002kzy.3_Missense_Mutation_p.E36G	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	36						cytoplasm|microtubule				skin(1)	1																		---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39620712	39620712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39620712T>C	uc002lap.2	+						PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron|PIK3C3_uc002lar.1_Intron	NM_002647	NP_002638			catalytic phosphatidylinositol 3-kinase 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530292	42530292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42530292T>C	uc010dni.2	+	4	1283	c.987T>C	c.(985-987)CCT>CCC	p.P329P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	329						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42533228	42533228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42533228C>T	uc010dni.2	+	4	4219	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1308						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43219786	43219786	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43219786G>A	uc010dnj.2	+	8	1240	c.919G>A	c.(919-921)GTG>ATG	p.V307M	SLC14A2_uc002lbb.2_Missense_Mutation_p.V307M|SLC14A2_uc002lbe.2_Missense_Mutation_p.V307M	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	307	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43450705	43450705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43450705T>C	uc002lbm.2	-	36	6152	c.6052A>G	c.(6052-6054)AAG>GAG	p.K2018E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K572E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.K893E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2018					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43510722	43510722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43510722T>C	uc002lbm.2	-	12	2432	c.2332A>G	c.(2332-2334)ACC>GCC	p.T778A	KIAA1632_uc002lbo.1_Missense_Mutation_p.T778A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	778					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43532382	43532382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43532382A>G	uc002lbm.2	-	3	1336	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	KIAA1632_uc002lbo.1_Silent_p.I412I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	412					autophagy						0																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43577772	43577772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43577772G>A	uc002lbp.3	-	9	681	c.585C>T	c.(583-585)ATC>ATT	p.I195I	PSTPIP2_uc002lbq.3_Silent_p.I195I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	195						membrane				ovary(1)	1																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43578806	43578806	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43578806C>T	uc002lbp.3	-	8	613	c.517_splice	c.e8-1	p.L173_splice	PSTPIP2_uc002lbq.3_Splice_Site_p.L173_splice	NM_024430	NP_077748			proline-serine-threonine phosphatase interacting							membrane				ovary(1)	1																		---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43664567	43664567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43664567A>G	uc002lbr.1	-	11	1573	c.1483T>C	c.(1483-1485)TAT>CAT	p.Y495H	ATP5A1_uc010dnl.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbs.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbt.1_Missense_Mutation_p.Y495H	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	495					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0																		---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43705714	43705714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43705714C>T	uc002lbu.2	+	8	823	c.743C>T	c.(742-744)CCG>CTG	p.P248L	HAUS1_uc002lbv.2_Missense_Mutation_p.P172L	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	248					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1																		---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44470945	44470945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44470945G>A	uc002lck.2	-	2	255	c.97C>T	c.(97-99)CGC>TGC	p.R33C	PIAS2_uc010dnp.2_Translation_Start_Site|PIAS2_uc002lcl.2_Missense_Mutation_p.R33C|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R33C|PIAS2_uc002lcn.1_Missense_Mutation_p.R37C	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	33	SAP.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44559507	44559507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44559507G>A	uc002lcr.1	-	1	2482	c.2129C>T	c.(2128-2130)GCC>GTC	p.A710V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	710					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560674	44560674	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560674T>C	uc002lcr.1	-	1	1315	c.962A>G	c.(961-963)GAC>GGC	p.D321G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560714	44560714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560714G>A	uc002lcr.1	-	1	1275	c.922C>T	c.(922-924)CCT>TCT	p.P308S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	308					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561192	44561192	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561192A>G	uc002lcr.1	-	1	797	c.444T>C	c.(442-444)AGT>AGC	p.S148S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	148					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561608	44561608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561608C>T	uc002lcr.1	-	1	381	c.28G>A	c.(28-30)GCA>ACA	p.A10T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	10	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45374882	45374882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45374882G>A	uc002lcy.2	-	8	1209	c.961C>T	c.(961-963)CGA>TGA	p.R321*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.R321*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R291*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R291*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567392	45567392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45567392G>A	uc002lda.2	-	1	103	c.87C>T	c.(85-87)CAC>CAT	p.H29H	ZBTB7C_uc002ldb.2_Silent_p.H29H|ZBTB7C_uc010dnu.2_Silent_p.H38H|ZBTB7C_uc010dnv.2_Silent_p.H51H|ZBTB7C_uc010dnw.2_Silent_p.H29H|ZBTB7C_uc010dnx.1_Silent_p.H29H|ZBTB7C_uc010dny.1_Silent_p.H29H|ZBTB7C_uc010dnz.1_Silent_p.H51H|ZBTB7C_uc010dob.1_Silent_p.H29H|ZBTB7C_uc010doc.1_Silent_p.H38H|ZBTB7C_uc010dod.1_Silent_p.H51H|ZBTB7C_uc010doe.1_Silent_p.H29H|ZBTB7C_uc010dof.1_Silent_p.H29H|ZBTB7C_uc010dog.1_Silent_p.H29H|ZBTB7C_uc010doh.1_Silent_p.H38H|ZBTB7C_uc010doi.1_Silent_p.H29H|ZBTB7C_uc010doj.1_Silent_p.H38H|ZBTB7C_uc010dok.1_Silent_p.H78H|ZBTB7C_uc010dol.1_Silent_p.H38H|ZBTB7C_uc010doa.1_Silent_p.H51H|ZBTB7C_uc010don.1_Silent_p.H37H|ZBTB7C_uc010doo.1_Silent_p.H29H|ZBTB7C_uc010dop.1_Silent_p.H29H|ZBTB7C_uc010doq.1_Silent_p.H38H|ZBTB7C_uc010dor.1_Silent_p.H51H|ZBTB7C_uc010dos.1_Silent_p.H29H|ZBTB7C_uc010dot.1_Silent_p.H29H|ZBTB7C_uc010dou.1_Silent_p.H38H|ZBTB7C_uc010dom.1_Silent_p.H38H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	29						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DYM	54808	broad.mit.edu	37	18	46645179	46645179	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46645179G>A	uc002ldi.1	-	15	2046	c.1681C>T	c.(1681-1683)CGC>TGC	p.R561C	DYM_uc010xdf.1_Missense_Mutation_p.R371C|DYM_uc002ldj.3_Missense_Mutation_p.R383C	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	561						Golgi apparatus					0																		---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47320717	47320717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47320717T>C	uc002ldw.3	-	5	907	c.510A>G	c.(508-510)GTA>GTG	p.V170V	ACAA2_uc002ldx.3_Silent_p.V167V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	170					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47363953	47363953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47363953G>A	uc002leb.2	-	37	5360	c.5072C>T	c.(5071-5073)GCA>GTA	p.A1691V	MYO5B_uc002ldz.2_Missense_Mutation_p.A261V|MYO5B_uc002lea.2_Missense_Mutation_p.A806V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1691	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47810331	47810331	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47810331C>A	uc002leq.3	-	10	2079	c.1346G>T	c.(1345-1347)CGC>CTC	p.R449L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R306L|CXXC1_uc002ler.3_Missense_Mutation_p.R453L|CXXC1_uc010doy.2_Missense_Mutation_p.R449L|CXXC1_uc002les.2_Missense_Mutation_p.R449L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	449	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SKA1	220134	broad.mit.edu	37	18	47917530	47917530	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47917530T>C	uc002let.2	+	6	670	c.486T>C	c.(484-486)AAT>AAC	p.N162N	SKA1_uc002leu.2_Silent_p.N162N|SKA1_uc010xdl.1_Silent_p.N116N	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	162					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48255702	48255702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48255702G>A	uc002lev.2	+	6	2242	c.1242G>A	c.(1240-1242)TCG>TCA	p.S414S	MAPK4_uc010xdm.1_Silent_p.S203S|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	414					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)														---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48603091	48603091	+	Silent	SNP	C	T	T	rs140487104	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48603091C>T	uc010xdp.1	+	11	1930	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	SMAD4_uc002lfb.3_Silent_p.A309A	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	464	Poly-Ala.|MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
DCC	1630	broad.mit.edu	37	18	50683828	50683828	+	Missense_Mutation	SNP	C	T	T	rs145985306	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50683828C>T	uc002lfe.1	+	8	1951	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DCC_uc010xdr.1_Missense_Mutation_p.A303V|DCC_uc010dpf.1_Missense_Mutation_p.A110V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
DCC	1630	broad.mit.edu	37	18	51025679	51025679	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51025679G>T	uc002lfe.1	+	27	4497	c.3910G>T	c.(3910-3912)GGA>TGA	p.G1304*	DCC_uc010dpf.1_Nonsense_Mutation_p.G937*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1304	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51731394	51731394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51731394G>A	uc002lfg.1	-	2	905	c.676C>T	c.(676-678)CGA>TGA	p.R226*	MBD2_uc002lfh.1_Nonsense_Mutation_p.R226*	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	226					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)													---	---	---	---
POLI	11201	broad.mit.edu	37	18	51807191	51807191	+	Silent	SNP	T	C	C	rs150177922		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51807191T>C	uc002lfj.3	+	5	782	c.714T>C	c.(712-714)TTT>TTC	p.F238F	POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Silent_p.F135F|POLI_uc002lfl.1_Silent_p.F170F|POLI_uc010dpg.2_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	238	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLI	11201	broad.mit.edu	37	18	51820609	51820609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51820609G>A	uc002lfj.3	+	10	2063	c.1995G>A	c.(1993-1995)GAG>GAA	p.E665E	POLI_uc010xds.1_Silent_p.E586E|POLI_uc002lfk.3_Silent_p.E562E|POLI_uc010dpg.2_Silent_p.E261E	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	665					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51887090	51887090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51887090C>T	uc002lfn.3	+	2	264	c.148C>T	c.(148-150)CAA>TAA	p.Q50*	C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q50*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	50						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)														---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52924545	52924545	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52924545C>T	uc002lfz.2	-	14	1758	c.1146_splice	c.e14+1	p.L382_splice	TCF4_uc002lfw.3_Splice_Site_p.L222_splice|TCF4_uc010xdu.1_Splice_Site_p.L252_splice|TCF4_uc010xdv.1_Splice_Site_p.L252_splice|TCF4_uc002lfx.2_Splice_Site_p.L311_splice|TCF4_uc010xdw.1_Splice_Site_p.L252_splice|TCF4_uc002lfy.2_Splice_Site_p.L340_splice|TCF4_uc010xdx.1_Splice_Site_p.L358_splice|TCF4_uc010dph.1_Splice_Site_p.L382_splice|TCF4_uc010xdy.1_Splice_Site_p.L358_splice|TCF4_uc002lga.2_Splice_Site_p.L484_splice|TCF4_uc002lgb.1_Splice_Site_p.L222_splice|TCF4_uc010dpi.2_Splice_Site_p.L388_splice|TCF4_uc002lfv.2_Splice_Site_p.L165_splice	NM_003199	NP_003190			transcription factor 4 isoform b						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)														---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54281794	54281794	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54281794T>C	uc002lgg.2	-	6	845	c.596A>G	c.(595-597)AAC>AGC	p.N199S	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.N199S|TXNL1_uc002lgj.1_Missense_Mutation_p.N199S	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	199	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54353252	54353252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54353252A>G	uc002lgk.1	+	6	797	c.586A>G	c.(586-588)AGT>GGT	p.S196G	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S196G	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	196	WD 3.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---
NARS	4677	broad.mit.edu	37	18	55287875	55287875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55287875A>G	uc002lgs.2	-	2	247	c.19T>C	c.(19-21)TAC>CAC	p.Y7H	NARS_uc002lgt.2_Missense_Mutation_p.Y6H|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.Y7H|NARS_uc010xed.1_Intron	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	7					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)													---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55919283	55919283	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55919283A>G	uc002lgy.2	+	5	568	c.294A>G	c.(292-294)AGA>AGG	p.R98R	NEDD4L_uc002lgz.2_Silent_p.R98R|NEDD4L_uc002lgx.2_Silent_p.R98R|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Silent_p.R90R|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Silent_p.R90R|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	98	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4																		---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202770	56202770	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56202770T>C	uc002lhj.3	-	5	4863	c.4649A>G	c.(4648-4650)CAC>CGC	p.H1550R	ALPK2_uc002lhk.1_Missense_Mutation_p.H881R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1550							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56587856	56587856	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56587856G>A	uc002lho.2	+	4	2884	c.2337G>A	c.(2335-2337)ACG>ACA	p.T779T	ZNF532_uc002lhp.2_Silent_p.T777T|ZNF532_uc010xeg.1_Silent_p.T777T|ZNF532_uc002lhr.2_Silent_p.T777T|ZNF532_uc002lhs.2_Silent_p.T777T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	779	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56606804	56606804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56606804C>T	uc002lho.2	+	6	3203	c.2656C>T	c.(2656-2658)CAT>TAT	p.H886Y	ZNF532_uc002lhp.2_Missense_Mutation_p.H884Y|ZNF532_uc010xeg.1_Missense_Mutation_p.H884Y|ZNF532_uc002lhr.2_Missense_Mutation_p.H884Y|ZNF532_uc002lhs.2_Missense_Mutation_p.H884Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	886	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56620892	56620892	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56620892A>G	uc002lho.2	+	8	3558	c.3011A>G	c.(3010-3012)GAA>GGA	p.E1004G	ZNF532_uc002lhp.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeg.1_Missense_Mutation_p.E1002G|ZNF532_uc002lhr.2_Missense_Mutation_p.E1002G|ZNF532_uc002lhs.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeh.1_Missense_Mutation_p.E96G	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
GRP	2922	broad.mit.edu	37	18	56892961	56892961	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56892961G>A	uc002lhv.2	+	2	475	c.377G>A	c.(376-378)GGC>GAC	p.G126D	GRP_uc002lhu.2_Intron|GRP_uc002lhw.2_Missense_Mutation_p.G126D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)																---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57006142	57006142	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57006142T>C	uc002lhz.2	-	9	1031	c.999A>G	c.(997-999)CAA>CAG	p.Q333Q		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	333	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)													---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038610	58038610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58038610G>T	uc002lie.1	-	1	1392	c.973C>A	c.(973-975)CTT>ATT	p.L325I		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	325	Cytoplasmic (Potential).		L -> F (in obesity; does not bind alpha- MSH).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59157790	59157790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59157790T>C	uc010dps.1	+	1	16	c.4T>C	c.(4-6)TGG>CGG	p.W2R	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59195450	59195450	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59195450T>A	uc010dps.1	+	6	1280	c.1268T>A	c.(1267-1269)ATC>AAC	p.I423N	CDH20_uc002lif.2_Missense_Mutation_p.I417N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483549	59483549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59483549G>A	uc002lih.1	-	2	560	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	50	RING-type.				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)																---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242140	60242140	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242140T>C	uc002lip.3	+	13	2826	c.2826T>C	c.(2824-2826)TCT>TCC	p.S942S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S412S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242648	60242648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242648C>T	uc002lip.3	+	13	3334	c.3334C>T	c.(3334-3336)CCA>TCA	p.P1112S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.P582S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1112					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60562361	60562361	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60562361A>G	uc002lis.2	+	6	826	c.648A>G	c.(646-648)TCA>TCG	p.S216S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	728	LRR 4.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0																		---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61022445	61022445	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61022445T>A	uc010dpw.2	-	5	564	c.409A>T	c.(409-411)ACC>TCC	p.T137S	KDSR_uc010xem.1_Missense_Mutation_p.T137S	NM_002035	NP_002026	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase precursor	137	Cytoplasmic (Potential).				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			skin(1)	1																		---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61261619	61261619	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61261619C>T	uc002ljc.2	+	6	671	c.503C>T	c.(502-504)TCT>TTT	p.S168F	SERPINB13_uc002ljd.2_Missense_Mutation_p.S32F|SERPINB13_uc010xep.1_Missense_Mutation_p.S177F|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	168					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61378571	61378571	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61378571G>A	uc002ljk.3	+	3	233	c.171G>A	c.(169-171)GTG>GTA	p.V57V	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	57					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61449733	61449733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61449733C>T	uc002ljl.2	+	2	223	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SERPINB7_uc002ljm.2_Missense_Mutation_p.R43C|SERPINB7_uc010xet.1_Missense_Mutation_p.R43C|SERPINB7_uc010dqg.2_Missense_Mutation_p.R43C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61562597	61562597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61562597T>C	uc010xeu.1	+	4	601	c.268T>C	c.(268-270)TAT>CAT	p.Y90H	SERPINB2_uc002ljo.2_Missense_Mutation_p.Y90H|SERPINB2_uc010dqh.2_Missense_Mutation_p.Y20H|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	90					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)													---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547677	63547677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63547677A>G	uc002ljz.2	+	12	2230	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K	CDH7_uc002lkb.2_Silent_p.K635K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	635	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64212087	64212087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64212087T>C	uc002lkc.1	-	6	967	c.829A>G	c.(829-831)ACA>GCA	p.T277A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T277A|CDH19_uc002lkd.2_Missense_Mutation_p.T277A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	277	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65180565T>C	uc002lke.1	-	2	2535	c.1311A>G	c.(1309-1311)ACA>ACG	p.T437T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66346763	66346763	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66346763T>C	uc002lkf.2	-	15	1176	c.1041A>G	c.(1039-1041)CAA>CAG	p.Q347Q	TMX3_uc010xez.1_Silent_p.Q206Q	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	347	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1																		---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678164	66678164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66678164T>C	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67688033	67688033	+	Missense_Mutation	SNP	A	G	G	rs142159336	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67688033A>G	uc002lkp.2	-	45	6039	c.5971T>C	c.(5971-5973)TCA>CCA	p.S1991P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S1079P|RTTN_uc002lkn.2_5'UTR|RTTN_uc010dqp.2_Missense_Mutation_p.S243P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1991							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67692051	67692051	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67692051A>C	uc002lkp.2	-	44	5925	c.5857T>G	c.(5857-5859)TTG>GTG	p.L1953V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1041V|RTTN_uc010dqp.2_Missense_Mutation_p.L205V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1953							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67695984	67695984	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67695984A>G	uc002lkp.2	-	43	5867	c.5799T>C	c.(5797-5799)TGT>TGC	p.C1933C	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.C1021C|RTTN_uc010dqp.2_Silent_p.C185C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1933							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67794748	67794748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67794748C>T	uc002lkp.2	-	25	3441	c.3373G>A	c.(3373-3375)GCA>ACA	p.A1125T	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A213T	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1125							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67802453	67802453	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67802453A>C	uc002lkp.2	-	22	2920	c.2852T>G	c.(2851-2853)CTA>CGA	p.L951R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L39R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	951							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67813010	67813010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67813010C>T	uc002lkp.2	-	18	2387	c.2319G>A	c.(2317-2319)TCG>TCA	p.S773S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	773							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67816137	67816137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67816137G>A	uc002lkp.2	-	17	2377	c.2309C>T	c.(2308-2310)TCG>TTG	p.S770L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	770							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67860532	67860532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67860532C>T	uc002lkp.2	-	8	1067	c.999G>A	c.(997-999)GCG>GCA	p.A333A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.A333A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	333							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993122	67993122	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993122T>C	uc002lkr.1	+	2	1534	c.1218T>C	c.(1216-1218)TTT>TTC	p.F406F	SOCS6_uc010dqq.2_Silent_p.F406F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	406	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993331	67993331	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993331G>A	uc002lkr.1	+	2	1743	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	SOCS6_uc010dqq.2_Missense_Mutation_p.R476Q	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	476	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526050	70526050	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70526050T>C	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron|NETO1_uc002lkz.2_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822396	71822396	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822396A>C	uc010dqr.1	+	2	616	c.318A>C	c.(316-318)AGA>AGC	p.R106S		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	106					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822623C>T	uc010dqr.1	+	3	745	c.447C>T	c.(445-447)TGC>TGT	p.C149C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
FAM69C	125704	broad.mit.edu	37	18	72109298	72109298	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72109298G>A	uc002llk.2	-	3	939	c.930C>T	c.(928-930)ATC>ATT	p.I310I		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	hypothetical protein LOC125704	310	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72186224	72186224	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72186224T>C	uc002llm.1	+	11	1413	c.1251T>C	c.(1249-1251)AGT>AGC	p.S417S	CNDP2_uc002lln.1_Silent_p.S333S|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	417		Substrate; via amide nitrogen and carbonyl oxygen (By similarity).				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72353051	72353051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72353051T>C	uc002llw.2	+	2	4832	c.4775T>C	c.(4774-4776)ATG>ACG	p.M1592T	ZNF407_uc010xfc.1_Missense_Mutation_p.M1592T|ZNF407_uc010dqu.1_Missense_Mutation_p.M1592T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72632493	72632493	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72632493G>A	uc002llw.2	+	7	5330	c.5273G>A	c.(5272-5274)CGC>CAC	p.R1758H	ZNF407_uc010dqu.1_Missense_Mutation_p.R1758H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1758	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998127	72998127	+	Silent	SNP	C	T	T	rs146373782		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998127C>T	uc002lly.2	+	2	1193	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	255	C2H2-type 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998294	72998294	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998294A>T	uc002lly.2	+	2	1360	c.797A>T	c.(796-798)TAC>TTC	p.Y266F		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	311	C2H2-type 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999306	72999306	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72999306C>T	uc002lly.2	+	2	2372	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	648						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154214	74154214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154214T>A	uc010dqx.1	-	2	1032	c.797A>T	c.(796-798)CAC>CTC	p.H266L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	266	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154911	74154911	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154911G>T	uc010dqx.1	-	2	335	c.100C>A	c.(100-102)CAC>AAC	p.H34N	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74583682	74583682	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74583682C>T	uc002lmi.2	+	5	760	c.562C>T	c.(562-564)CGG>TGG	p.R188W	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R188W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	188					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74635026	74635026	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74635026G>T	uc002lmi.2	+	21	3750	c.3552_splice	c.e21-1	p.R1184_splice	ZNF236_uc002lmj.2_Splice_Site	NM_007345	NP_031371			zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
MBP	4155	broad.mit.edu	37	18	74729219	74729219	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77067105	77067105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77067105C>T	uc002lmx.2	+	15	1658	c.1644C>T	c.(1642-1644)ATC>ATT	p.I548I	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.I548I|ATP9B_uc002lmz.1_Silent_p.I242I	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	548	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77089273	77089273	+	Nonsense_Mutation	SNP	G	T	T	rs35782512	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77089273G>T	uc002lmx.2	+	16	1920	c.1906G>T	c.(1906-1908)GAG>TAG	p.E636*	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Nonsense_Mutation_p.E636*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.E330*	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	636	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170667	77170667	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170667A>G	uc010xfg.1	+	2	845	c.392A>G	c.(391-393)AAC>AGC	p.N131S	NFATC1_uc002lnc.1_Missense_Mutation_p.N131S|NFATC1_uc010xff.1_Missense_Mutation_p.N131S|NFATC1_uc002lnd.2_Missense_Mutation_p.N131S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.N131S|NFATC1_uc010xfi.1_Missense_Mutation_p.N118S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.N118S|NFATC1_uc002lng.2_Missense_Mutation_p.N118S|NFATC1_uc010xfk.1_Missense_Mutation_p.N118S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	131	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77208854	77208854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77208854C>T	uc010xfg.1	+	4	1912	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	NFATC1_uc002lnc.1_Missense_Mutation_p.R487C|NFATC1_uc010xff.1_Missense_Mutation_p.R487C|NFATC1_uc002lnd.2_Missense_Mutation_p.R487C|NFATC1_uc002lne.2_Missense_Mutation_p.R15C|NFATC1_uc010xfh.1_Missense_Mutation_p.R487C|NFATC1_uc010xfi.1_Missense_Mutation_p.R474C|NFATC1_uc010xfj.1_Missense_Mutation_p.R15C|NFATC1_uc002lnf.2_Missense_Mutation_p.R474C|NFATC1_uc002lng.2_Missense_Mutation_p.R474C|NFATC1_uc010xfk.1_Missense_Mutation_p.R474C	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	487	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77659249	77659249	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77659249G>T	uc010xfl.1	+	2	834	c.834G>T	c.(832-834)AAG>AAT	p.K278N		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	278					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894427	77894427	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77894427A>G	uc002lnw.2	+	4	1586	c.1131A>G	c.(1129-1131)CCA>CCG	p.P377P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	377	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895701	77895701	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77895701A>T	uc002lnw.2	+	4	2860	c.2405A>T	c.(2404-2406)GAT>GTT	p.D802V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	802					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291276	291276	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291276G>A	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291279	291279	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291279T>C	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	624774	624774	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:624774G>A	uc002lpf.1	-	5	1141	c.1085C>T	c.(1084-1086)CCG>CTG	p.P362L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	362					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746583	746583	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746583G>T	uc002lpm.1	+	9	1127	c.933G>T	c.(931-933)GAG>GAT	p.E311D	PALM_uc002lpn.1_Missense_Mutation_p.E267D|PALM_uc010xfu.1_Missense_Mutation_p.E176D	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	311					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746586	746586	+	Silent	SNP	C	A	A	rs142619819		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746586C>A	uc002lpm.1	+	9	1130	c.936C>A	c.(934-936)GCC>GCA	p.A312A	PALM_uc002lpn.1_Silent_p.A268A|PALM_uc010xfu.1_Silent_p.A177A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	312					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
C19orf21	126353	broad.mit.edu	37	19	758560	758560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:758560G>A	uc002lpo.2	+	2	1697	c.1614G>A	c.(1612-1614)CTG>CTA	p.L538L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	538										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	971952	971952	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1068749	1068749	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1068749A>C	uc002lqz.1	+						HMHA1_uc010xgd.1_Intron|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_Intron|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424			minor histocompatibility antigen HA-1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLR2E	5434	broad.mit.edu	37	19	1094045	1094045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1094045C>T	uc002lre.3	-	2	167	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	30					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1231118	1231118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1231118G>A	uc002lrm.2	-	9	1393	c.1118C>T	c.(1117-1119)CCG>CTG	p.P373L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	399						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)											HNSCC(14;0.022)			---	---	---	---
APC2	10297	broad.mit.edu	37	19	1462161	1462161	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1462161C>T	uc002lsr.1	+	14	2046	c.1838C>T	c.(1837-1839)ACC>ATC	p.T613I	APC2_uc002lss.1_Missense_Mutation_p.T195I|APC2_uc002lst.1_Missense_Mutation_p.T613I|APC2_uc002lsu.1_Missense_Mutation_p.T612I|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1585094	1585094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1585094C>T	uc002ltl.1	-	2	252	c.230G>A	c.(229-231)AGC>AAC	p.S77N	MBD3_uc002ltj.2_Missense_Mutation_p.S77N|MBD3_uc002ltk.2_Missense_Mutation_p.S45N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	77					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1795914	1795914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1795914C>A	uc002ltw.2	-	18	2249	c.2015G>T	c.(2014-2016)AGG>ATG	p.R672M	ATP8B3_uc002ltv.2_Missense_Mutation_p.R625M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	672	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)												OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827534	1827534	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1827534C>T	uc002lua.3	-	2	1349	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P	REXO1_uc010dsr.1_Silent_p.P372P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	418						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827735	1827735	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1827735C>T	uc002lua.3	-	2	1148	c.1053G>A	c.(1051-1053)CCG>CCA	p.P351P	REXO1_uc010dsr.1_Silent_p.P305P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	351						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
BTBD2	55643	broad.mit.edu	37	19	1987258	1987258	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1987258G>A	uc002lup.1	-						BTBD2_uc002luo.1_Intron	NM_017797	NP_060267			BTB (POZ) domain containing 2							cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2102260	2102260	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2102260T>C	uc002luz.2	-	30	3597	c.3374A>G	c.(3373-3375)AAC>AGC	p.N1125S	AP3D1_uc010dsv.2_Missense_Mutation_p.N215S|AP3D1_uc002luy.2_Missense_Mutation_p.N1084S|AP3D1_uc002lva.2_Missense_Mutation_p.N1187S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1125					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129320	2129320	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129320C>T	uc002luz.2	-	7	952	c.729G>A	c.(727-729)AAG>AAA	p.K243K	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.K243K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	243					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129360	2129360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129360G>A	uc002luz.2	-	7	912	c.689C>T	c.(688-690)ACG>ATG	p.T230M	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.T230M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	230					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2202760	2202760	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2202760T>C	uc002lvb.3	+	9	805	c.769T>C	c.(769-771)TTT>CTT	p.F257L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	257						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
LMNB2	84823	broad.mit.edu	37	19	2435063	2435063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2435063C>T	uc002lvy.2	-	5	818	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	LMNB2_uc002lwa.1_Missense_Mutation_p.R264Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	244	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNG7	2788	broad.mit.edu	37	19	2515092	2515092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2515092G>T	uc002lwd.2	-	5	372	c.135C>A	c.(133-135)AAC>AAA	p.N45K	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2794776	2794776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2794776C>A	uc002lwj.2	+	3	399	c.244C>A	c.(244-246)CTT>ATT	p.L82I	THOP1_uc010xgz.1_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	82					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807650	2807650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807650C>T	uc002lwj.2	+	8	1252	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	THOP1_uc010xgz.1_Missense_Mutation_p.T245M|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	366					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807711	2807711	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807711C>T	uc002lwj.2	+	8	1313	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	THOP1_uc010xgz.1_Silent_p.G265G|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	386					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807736	2807736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807736C>T	uc002lwj.2	+	8	1338	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	THOP1_uc010xgz.1_Missense_Mutation_p.R274W|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3005923	3005923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3005923C>T	uc002lww.2	-	16	1807	c.1544G>A	c.(1543-1545)GGC>GAC	p.G515D	TLE2_uc010xhb.1_Missense_Mutation_p.G182D|TLE2_uc010dth.2_Missense_Mutation_p.G516D|TLE2_uc010xhc.1_Missense_Mutation_p.G393D|TLE2_uc010dti.2_Missense_Mutation_p.G529D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	515	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AES	166	broad.mit.edu	37	19	3061264	3061264	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3061264A>G	uc002lwy.1	-						AES_uc002lwz.1_Intron|AES_uc002lxa.1_Intron|AES_uc002lxb.1_Intron|AES_uc002lxc.2_Intron	NM_001130	NP_001121			amino-terminal enhancer of split isoform b						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNA11	2767	broad.mit.edu	37	19	3121099	3121099	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3121099G>A	uc002lxd.2	+	7	1244	c.1002G>A	c.(1000-1002)ACG>ACA	p.T334T	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	334					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)				Mis		uveal melanoma								---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3150136	3150136	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3150136C>T	uc002lxf.2	+	3	596	c.338C>T	c.(337-339)GCT>GTT	p.A113V	GNA15_uc010xhf.1_Missense_Mutation_p.A113V	NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	113					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3155864	3155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3155864A>T	uc002lxf.2	+	5	916	c.658A>T	c.(658-660)ATC>TTC	p.I220F		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	220					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
S1PR4	8698	broad.mit.edu	37	19	3179649	3179649	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3179649C>T	uc002lxg.2	+	1	884	c.859C>T	c.(859-861)CGG>TGG	p.R287W		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	287	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2																		---	---	---	---
NCLN	56926	broad.mit.edu	37	19	3207616	3207616	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3207616T>C	uc002lxi.2	+						NCLN_uc002lxh.1_Intron|NCLN_uc002lxj.1_Intron|NCLN_uc002lxk.2_Intron	NM_020170	NP_064555			nicalin precursor						proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3281228	3281228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3281228C>T	uc002lxm.2	+	6	672	c.635C>T	c.(634-636)GCC>GTC	p.A212V	CELF5_uc002lxl.1_Missense_Mutation_p.A212V|CELF5_uc010dtj.1_Missense_Mutation_p.A212V|CELF5_uc010xhg.1_Missense_Mutation_p.A98V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	212	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---
C19orf28	126321	broad.mit.edu	37	19	3551131	3551131	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3551131C>T	uc002lxz.2	-	2	530	c.360G>A	c.(358-360)GCG>GCA	p.A120A	C19orf28_uc002lxw.2_Silent_p.A120A|C19orf28_uc002lxx.2_Silent_p.A120A|C19orf28_uc002lxy.2_Silent_p.A111A	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	120					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf29	58509	broad.mit.edu	37	19	3620185	3620185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3620185T>C	uc002lyh.2	-	4	877	c.824A>G	c.(823-825)GAG>GGG	p.E275G	C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Missense_Mutation_p.E123G|C19orf29_uc002lyi.3_Missense_Mutation_p.E275G|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	275	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3656486	3656486	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3656486T>C	uc002lyj.1	-	6	595	c.538A>G	c.(538-540)ACC>GCC	p.T180A	PIP5K1C_uc010xhq.1_Missense_Mutation_p.T180A|PIP5K1C_uc010xhr.1_Missense_Mutation_p.T180A	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	180	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3733891	3733891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3733891C>T	uc010xhv.1	+	6	915	c.915C>T	c.(913-915)AGC>AGT	p.S305S	TJP3_uc010xhs.1_Silent_p.S286S|TJP3_uc010xht.1_Silent_p.S250S|TJP3_uc010xhu.1_Silent_p.S295S|TJP3_uc010xhw.1_Silent_p.S305S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	286						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3834970	3834970	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3834970G>A	uc002lyw.2	-	2	77	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	22						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)														---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4013158	4013158	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MAP2K2	5605	broad.mit.edu	37	19	4099374	4099374	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4099374C>A	uc002lzk.2	-	7	998	c.744G>T	c.(742-744)TCG>TCT	p.S248S	MAP2K2_uc002lzj.2_Silent_p.S58S	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	248	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										Cardiofaciocutaneous_syndrome				---	---	---	---
CREB3L3	84699	broad.mit.edu	37	19	4157037	4157037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4157037C>A	uc002lzl.2	+	3	318	c.202C>A	c.(202-204)CTG>ATG	p.L68M	CREB3L3_uc002lzm.2_Missense_Mutation_p.L58M|CREB3L3_uc010xib.1_Missense_Mutation_p.L59M|CREB3L3_uc010xic.1_Missense_Mutation_p.L59M	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	68	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4216957	4216957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4216957A>G	uc010dtt.1	+	18	2076	c.1800A>G	c.(1798-1800)AAA>AAG	p.K600K	ANKRD24_uc002lzs.2_Silent_p.K571K|ANKRD24_uc002lzt.2_Silent_p.K572K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	600											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)														---	---	---	---
EBI3	10148	broad.mit.edu	37	19	4234673	4234673	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4234673A>G	uc002lzu.2	+	4	397	c.389A>G	c.(388-390)GAC>GGC	p.D130G		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	130	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SH3GL1	6455	broad.mit.edu	37	19	4365591	4365591	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4365591C>A	uc002maj.2	-	4	325	c.219G>T	c.(217-219)ACG>ACT	p.T73T	SH3GL1_uc002mak.2_Silent_p.T73T|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	73	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)				T	MLL	AL								---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4491791C>T	uc002mao.2	+	6	730	c.637C>T	c.(637-639)CGG>TGG	p.R213W	HDGFRP2_uc002map.2_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4504480	4504480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4504480G>A	uc002mar.1	-	6	4065	c.4065C>T	c.(4063-4065)GGC>GGT	p.G1355G	PLIN4_uc010dub.1_Silent_p.G379G	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1355						lipid particle|plasma membrane					0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511907	4511907	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4511907C>A	uc002mar.1	-	3	2023	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	675	18.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0																		---	---	---	---
SEMA6B	10501	broad.mit.edu	37	19	4548328	4548328	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4548328C>T	uc010duc.1	-	12	1439	c.1401G>A	c.(1399-1401)GGG>GGA	p.G467G	SEMA6B_uc010dud.2_Silent_p.G467G|SEMA6B_uc010xih.1_Silent_p.G467G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	467	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4705902	4705902	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4705902G>T	uc002mba.2	-	5	652	c.394C>A	c.(394-396)CTG>ATG	p.L132M	DPP9_uc002mbb.2_Missense_Mutation_p.L132M|DPP9_uc002mbc.2_Missense_Mutation_p.L132M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	103					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)														---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5040024	5040024	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5040024T>C	uc002mbq.3	+	4	543	c.317_splice	c.e4+2	p.K106_splice	KDM4B_uc010xil.1_Splice_Site_p.K106_splice|KDM4B_uc010xim.1_Splice_Site_p.K106_splice	NM_015015	NP_055830			jumonji domain containing 2B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1																		---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5221144	5221144	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5221144C>T	uc002mbv.2	-	20	3556	c.3322G>A	c.(3322-3324)GGC>AGC	p.G1108S	PTPRS_uc002mbu.1_Missense_Mutation_p.G677S|PTPRS_uc010xin.1_Missense_Mutation_p.G677S|PTPRS_uc002mbw.2_Missense_Mutation_p.G1086S|PTPRS_uc002mbx.2_Missense_Mutation_p.G681S|PTPRS_uc002mby.2_Missense_Mutation_p.G677S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1108	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5225736	5225736	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5225736A>G	uc002mbv.2	-	17	2728	c.2494_splice	c.e17+1	p.V832_splice	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Splice_Site_p.V810_splice|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5455652	5455652	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5455652G>T	uc002mca.3	+	1	227	c.150G>T	c.(148-150)AAG>AAT	p.K50N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	50	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5592843	5592843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5592843G>A	uc002mcd.2	-	16	2475	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	755	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)														---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5691598	5691598	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5691598C>T	uc002mcv.2	+	4	353	c.284C>T	c.(283-285)GCC>GTC	p.A95V	RPL36_uc002mcw.2_Missense_Mutation_p.A95V	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0																OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LONP1	9361	broad.mit.edu	37	19	5714193	5714193	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5714193C>G	uc002mcx.2	-	2	551	c.518_splice	c.e2+1	p.S173_splice	LONP1_uc002mcy.2_Splice_Site_p.S109_splice|LONP1_uc010duh.2_Splice_Site|LONP1_uc010dui.2_Splice_Site_p.S173_splice|LONP1_uc002mcz.2_Splice_Site	NM_004793	NP_004784			mitochondrial lon peptidase 1 precursor						cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0																		---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5776331	5776331	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5776331G>A	uc002mda.2	+							NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5788365	5788365	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5788365T>C	uc002mdc.2	-						DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560			dihydrouridine synthase 3-like isoform 1						tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0																		---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6187702	6187702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6418522	6418522	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6418522C>T	uc002mer.3	-	9	961	c.851G>A	c.(850-852)CGC>CAC	p.R284H		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	284	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6476977	6476977	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6476977C>A	uc002mfe.2	-	10	661	c.569G>T	c.(568-570)AGG>ATG	p.R190M	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.R146M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1																		---	---	---	---
TUBB4	10382	broad.mit.edu	37	19	6501519	6501519	+	Intron	SNP	G	A	A	rs79044721	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6501519G>A	uc002mfg.1	-						TUBB4_uc002mff.1_Intron	NM_006087	NP_006078			tubulin, beta 4						'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)														---	---	---	---
C3	718	broad.mit.edu	37	19	6697697	6697697	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6697697A>C	uc002mfm.2	-	20	2611	c.2549T>G	c.(2548-2550)GTT>GGT	p.V850G		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	850					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
C3	718	broad.mit.edu	37	19	6710735	6710735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6710735T>C	uc002mfm.2	-	13	1663	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	534					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6750304	6750304	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6750304C>T	uc002mfs.2	+	13	1463	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	TRIP10_uc010dux.1_Missense_Mutation_p.A410V|TRIP10_uc002mfr.2_Missense_Mutation_p.A410V|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A229V	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1																		---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754060	6754060	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6754060T>C	uc002mft.2	-						SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481			SH2 domain containing 3A						JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6853059	6853059	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6853059G>A	uc002mfu.1	+	25	2398	c.2301G>A	c.(2299-2301)GAG>GAA	p.E767E	VAV1_uc010xjh.1_Silent_p.E735E|VAV1_uc010dva.1_Silent_p.E745E|VAV1_uc002mfv.1_Silent_p.E712E	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	767					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6921803	6921803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6921803G>A	uc002mfw.2	+	14	1738	c.1700G>A	c.(1699-1701)TGT>TAT	p.C567Y	EMR1_uc010dvc.2_Missense_Mutation_p.C567Y|EMR1_uc010dvb.2_Missense_Mutation_p.C515Y|EMR1_uc010xji.1_Missense_Mutation_p.C426Y|EMR1_uc010xjj.1_Missense_Mutation_p.C390Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	567	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6935098	6935098	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6935098C>A	uc002mfw.2	+						EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965			egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937571	6937571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937571A>G	uc002mfw.2	+	20	2605	c.2567A>G	c.(2566-2568)AAG>AGG	p.K856R	EMR1_uc010dvc.2_Missense_Mutation_p.K791R|EMR1_uc010dvb.2_Missense_Mutation_p.K837R|EMR1_uc010xji.1_Missense_Mutation_p.K715R|EMR1_uc010xjj.1_Missense_Mutation_p.K679R	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	856	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937586	6937586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937586G>A	uc002mfw.2	+	20	2620	c.2582G>A	c.(2581-2583)GGG>GAG	p.G861E	EMR1_uc010dvc.2_Missense_Mutation_p.G796E|EMR1_uc010dvb.2_Missense_Mutation_p.G842E|EMR1_uc010xji.1_Missense_Mutation_p.G720E|EMR1_uc010xjj.1_Missense_Mutation_p.G684E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	861	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR4P	326342	broad.mit.edu	37	19	6988789	6988789	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6988789T>A	uc010xjk.1	-						EMR4P_uc010dve.1_5'Flank	NR_024075				RecName: Full=Putative EGF-like module-containing mucin-like hormone receptor-like 4; AltName: Full=G-protein coupled receptor 127; AltName: Full=G-protein coupled receptor PGR16; Flags: Precursor;												0																		---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082971	7082971	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7082971A>T	uc002mgb.2	+	8	973	c.488A>T	c.(487-489)CAC>CTC	p.H163L	ZNF557_uc002mga.2_Missense_Mutation_p.H170L|ZNF557_uc002mgc.2_Missense_Mutation_p.H170L	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)														---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125510	7125510	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125510G>A	uc002mgd.1	-	17	3151	c.3042C>T	c.(3040-3042)GAC>GAT	p.D1014D	INSR_uc002mge.1_Silent_p.D1002D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1014	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125522	7125522	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125522C>T	uc002mgd.1	-	17	3139	c.3030G>A	c.(3028-3030)GTG>GTA	p.V1010V	INSR_uc002mge.1_Silent_p.V998V	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1010	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7166350	7166350	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7166350A>G	uc002mgd.1	-	8	1785	c.1676T>C	c.(1675-1677)GTA>GCA	p.V559A	INSR_uc002mge.1_Missense_Mutation_p.V559A|INSR_uc002mgf.2_Missense_Mutation_p.V559A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	559					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ARHGEF18	23370	broad.mit.edu	37	19	7509264	7509264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7509264G>A	uc002mgi.2	+	4	1224	c.971G>A	c.(970-972)CGC>CAC	p.R324H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)																---	---	---	---
C19orf45	374877	broad.mit.edu	37	19	7569089	7569089	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7569089A>G	uc002mgm.2	+	3	801	c.660A>G	c.(658-660)CCA>CCG	p.P220P	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	220											0																		---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7593720	7593720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7593720T>C	uc002mgo.2	+	9	1123	c.998T>C	c.(997-999)TTC>TCC	p.F333S	MCOLN1_uc002mgp.2_Missense_Mutation_p.F298S	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	333					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1																		---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7625995	7625995	+	Silent	SNP	C	T	T	rs149871062	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7625995C>T	uc010xjq.1	+	32	4137	c.3942C>T	c.(3940-3942)GAC>GAT	p.D1314D	PNPLA6_uc002mgq.1_Silent_p.D1266D|PNPLA6_uc010xjp.1_Silent_p.D1239D|PNPLA6_uc002mgr.1_Silent_p.D1266D|PNPLA6_uc002mgs.2_Silent_p.D1304D|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1305	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3																		---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7692152	7692152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7692152G>A	uc002mgx.2	-	4	525	c.499C>T	c.(499-501)CGA>TGA	p.R167*	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	167	HAT 5.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4													Direct_reversal_of_damage|NER					---	---	---	---
PCP2	126006	broad.mit.edu	37	19	7696662	7696662	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7696662A>G	uc002mgz.2	-	4	551	c.324T>C	c.(322-324)AGT>AGC	p.S108S	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	108					signal transduction		GTPase activator activity				0																		---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7708040	7708040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7708040G>A	uc002mha.3	+						STXBP2_uc002mhb.3_Intron|STXBP2_uc010dvj.2_Intron|STXBP2_uc010xjr.1_Intron|STXBP2_uc010dvk.2_Intron|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880			syntaxin binding protein 2 isoform a						leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1																		---	---	---	---
CLEC4G	339390	broad.mit.edu	37	19	7794289	7794289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7794289T>G	uc002mhp.3	-	9	914	c.845A>C	c.(844-846)AAG>ACG	p.K282T		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	282	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0																		---	---	---	---
EVI5L	115704	broad.mit.edu	37	19	7914150	7914150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7914150G>A	uc002min.2	+	5	715	c.561G>A	c.(559-561)TCG>TCA	p.S187S	EVI5L_uc010xjz.1_Silent_p.S187S|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	187	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7976042	7976042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7976042G>A	uc002mit.2	+	7	918	c.853G>A	c.(853-855)GCA>ACA	p.A285T	MAP2K7_uc002miv.2_Missense_Mutation_p.A285T|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A285T|MAP2K7_uc010dvv.2_Missense_Mutation_p.A160T	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	285	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7977189	7977189	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7977189G>T	uc002mit.2	+	11	1198	c.1133G>T	c.(1132-1134)AGC>ATC	p.S378I	MAP2K7_uc002miv.2_Missense_Mutation_p.S385I|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S385I|MAP2K7_uc010dvv.2_Missense_Mutation_p.S253I	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	378	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987422	7987422	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7987422T>C	uc002miw.1	+	5	801	c.778T>C	c.(778-780)TAC>CAC	p.Y260H	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	260					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
CCL25	6370	broad.mit.edu	37	19	8121288	8121288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8121288A>T	uc002mjd.2	+	3	230	c.230A>T	c.(229-231)AAC>ATC	p.N77I	CCL25_uc002mjc.3_Missense_Mutation_p.N77I|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	77					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8175763	8175763	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8175763G>A	uc002mjf.2	-	33	4320	c.4299C>T	c.(4297-4299)GGC>GGT	p.G1433G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1433	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550638	8550638	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8550638C>T	uc010dwe.2	+	14	1406	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	HNRNPM_uc010xke.1_Silent_p.D388D|HNRNPM_uc010dwd.2_Silent_p.D403D|HNRNPM_uc002mka.2_Silent_p.D307D|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|6.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0																		---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8563997	8563997	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8563997T>C	uc002mkd.2	-	2	715	c.695A>G	c.(694-696)CAG>CGG	p.Q232R	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0																		---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595214	8595214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8595214G>A	uc002mkg.2	-	21	2308	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	732						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3																		---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8661991	8661991	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8661991G>A	uc002mkj.1	-	8	1194	c.920C>T	c.(919-921)GCC>GTC	p.A307V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4																		---	---	---	---
MBD3L1	85509	broad.mit.edu	37	19	8953661	8953661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8953661G>A	uc002mko.2	+	1	393	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8973596	8973596	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8973596G>A	uc002mkp.2	-	77	42924	c.42720C>T	c.(42718-42720)GGC>GGT	p.G14240G	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G1040G|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9003630	9003630	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9003630T>G	uc002mkp.2	-	49	40214	c.40010A>C	c.(40009-40011)GAG>GCG	p.E13337A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E154A|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13339	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9008180	9008180	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9008180G>A	uc002mkp.2	-	41	39576	c.39372C>T	c.(39370-39372)TAC>TAT	p.Y13124Y	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13126	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9014204	9014204	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9014204C>A	uc002mkp.2	-	32	38648	c.38444G>T	c.(38443-38445)GGT>GTT	p.G12815V	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12817	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9019996	9019996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9019996A>T	uc002mkp.2	-	21	37703	c.37499T>A	c.(37498-37500)CTC>CAC	p.L12500H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12502	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9024831	9024831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9024831A>T	uc002mkp.2	-	16	37235	c.37031T>A	c.(37030-37032)GTC>GAC	p.V12344D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12346	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046516	9046516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046516G>A	uc002mkp.2	-	5	35319	c.35115C>T	c.(35113-35115)ACC>ACT	p.T11705T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9047431	9047431	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9047431T>A	uc002mkp.2	-	5	34404	c.34200A>T	c.(34198-34200)GTA>GTT	p.V11400V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11402	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068197	9068197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9068197G>A	uc002mkp.2	-	3	19453	c.19249C>T	c.(19249-19251)CCC>TCC	p.P6417S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6419	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072001	9072001	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072001T>C	uc002mkp.2	-	3	15649	c.15445A>G	c.(15445-15447)AAA>GAA	p.K5149E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5151	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076686	9076686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076686G>A	uc002mkp.2	-	3	10964	c.10760C>T	c.(10759-10761)GCT>GTT	p.A3587V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3588	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091505	9091505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091505A>G	uc002mkp.2	-	1	514	c.310T>C	c.(310-312)TCG>CCG	p.S104P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	104	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091600	9091600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091600A>G	uc002mkp.2	-	1	419	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	72	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204164	9204164	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9204164C>A	uc010xkj.1	+	1	244	c.244C>A	c.(244-246)CTG>ATG	p.L82M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3																		---	---	---	---
OR7G3	390883	broad.mit.edu	37	19	9236852	9236852	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9236852A>G	uc010xkl.1	-	1	775	c.775T>C	c.(775-777)TAC>CAC	p.Y259H		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9325015	9325015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9325015T>C	uc002mla.1	-	1	499	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578698	9578698	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9578698C>T	uc002mlp.1	-	10	1135	c.925G>A	c.(925-927)GCA>ACA	p.A309T	ZNF560_uc010dwr.1_Missense_Mutation_p.A203T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	309	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9676744	9676744	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9676744A>C	uc010xkp.1	-	4	1277	c.1045T>G	c.(1045-1047)TTC>GTC	p.F349V	ZNF121_uc010dwt.2_Missense_Mutation_p.F349V|ZNF121_uc010xkq.1_Missense_Mutation_p.F349V	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	349	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764069	9764069	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764069T>C	uc010xks.1	-	6	1000	c.837A>G	c.(835-837)GCA>GCG	p.A279A	ZNF562_uc002mly.2_Silent_p.A279A|ZNF562_uc002mlx.2_Silent_p.A207A|ZNF562_uc010xkt.1_Silent_p.A242A|ZNF562_uc010xku.1_Silent_p.A210A|ZNF562_uc010xkv.1_Silent_p.A278A|ZNF562_uc010xkw.1_Silent_p.A163A	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	279	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9868340	9868340	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9868340C>T	uc002mmb.1	-	6	1944	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T342T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	471	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9922090	9922090	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9922090A>G	uc002mme.2	-	3	705	c.463T>C	c.(463-465)TGC>CGC	p.C155R	FBXL12_uc002mmd.2_Missense_Mutation_p.C102R|FBXL12_uc002mmf.2_Missense_Mutation_p.C102R|FBXL12_uc002mmg.2_Missense_Mutation_p.C102R|FBXL12_uc002mmh.2_Missense_Mutation_p.C102R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	155							protein binding			lung(1)|kidney(1)	2																		---	---	---	---
PIN1	5300	broad.mit.edu	37	19	9949266	9949266	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9949266G>A	uc002mml.1	+	2	235	c.213G>A	c.(211-213)TCG>TCA	p.S71S	PIN1_uc002mmk.1_Silent_p.S71S|PIN1_uc002mmm.1_Silent_p.S71S|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	71	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1																		---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10108053	10108053	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10108053A>C	uc002mmq.1	-	11	1343	c.1257T>G	c.(1255-1257)GGT>GGG	p.G419G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	419	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10250789	10250789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10250789C>A	uc002mng.2	-	32	3871	c.3691G>T	c.(3691-3693)GGC>TGC	p.G1231C	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.G155C|DNMT1_uc010xlc.1_Missense_Mutation_p.G1247C|DNMT1_uc002mnh.2_Missense_Mutation_p.G1126C|DNMT1_uc010xld.1_Missense_Mutation_p.G1231C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1231	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)													---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10610576G>A	uc002moq.1	-	2	290	c.134C>T	c.(133-135)TCC>TTC	p.S45F	KEAP1_uc002mor.1_Missense_Mutation_p.S45F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)															---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10662732	10662732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10662732C>T	uc002mov.2	+	8	1177	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L	ATG4D_uc010xlh.1_Silent_p.L290L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Silent_p.L20L|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	353					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)															---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10912952	10912952	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10912952G>A	uc002mps.1	+						DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Intron|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Intron	NM_001005361	NP_001005361			dynamin 2 isoform 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)															---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11113781	11113781	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11113781G>A	uc002mqf.3	+	12	2173	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G630D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G630D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G630D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	630					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11121158	11121158	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11121158T>C	uc002mqf.3	+	15	2509	c.2225T>C	c.(2224-2226)GTG>GCG	p.V742A	SMARCA4_uc010dxp.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxo.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqg.1_Missense_Mutation_p.V742A|SMARCA4_uc010dxq.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxr.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqj.3_Missense_Mutation_p.V742A|SMARCA4_uc010dxs.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	742					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11135038	11135038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11135038C>T	uc002mqf.3	+	21	3289	c.3005C>T	c.(3004-3006)GCG>GTG	p.A1002V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1002V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1002V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A222V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A125V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A205V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1002					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11311643	11311643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11311643G>A	uc002mqs.3	-	45	5815	c.5774C>T	c.(5773-5775)CCA>CTA	p.P1925L	DOCK6_uc002mqr.3_Missense_Mutation_p.P325L|DOCK6_uc010xlq.1_Missense_Mutation_p.P1264L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1925	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
LPPR2	64748	broad.mit.edu	37	19	11473321	11473321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11473321G>A	uc002mre.1	+	7	1133	c.796G>A	c.(796-798)GTG>ATG	p.V266M	LPPR2_uc002mrf.1_Missense_Mutation_p.V241M|LPPR2_uc010dxy.1_Missense_Mutation_p.V73M	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	266	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1																		---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832634	11832634	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11832634C>A	uc002msm.2	-	4	1841	c.1715G>T	c.(1714-1716)GGA>GTA	p.G572V	ZNF823_uc010xmd.1_Missense_Mutation_p.G390V|ZNF823_uc010dyi.1_Missense_Mutation_p.G528V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	572	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2															HNSCC(68;0.2)			---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11891793	11891793	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11891793C>G	uc010dyj.2	+	4	1348	c.1154C>G	c.(1153-1155)ACT>AGT	p.T385S	ZNF441_uc002msn.3_Missense_Mutation_p.T341S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	385	C2H2-type 8.			T -> A (in Ref. 1; BAC04661).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12059503	12059503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12059503T>C	uc002msu.2	+	4	790	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	ZNF700_uc010xme.1_Missense_Mutation_p.Y240H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	222	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060238	12060238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060238A>G	uc002msu.2	+	4	1525	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	ZNF700_uc010xme.1_Missense_Mutation_p.T485A|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	467	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060550	12060550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060550A>G	uc002msu.2	+	4	1837	c.1711A>G	c.(1711-1713)AAA>GAA	p.K571E	ZNF700_uc010xme.1_Missense_Mutation_p.K589E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	571	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12087930	12087930	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12087930A>C	uc002msw.2	+	2	236	c.81A>C	c.(79-81)AAA>AAC	p.K27N	ZNF763_uc010xmf.1_Missense_Mutation_p.K47N|ZNF763_uc002msv.2_Missense_Mutation_p.K30N|ZNF763_uc010xmg.1_Intron	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 763	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12126679	12126679	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12126679T>C	uc002msy.1	-	4	1174	c.1003A>G	c.(1003-1005)AAA>GAA	p.K335E	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K300E	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12129088	12129088	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12129088T>C	uc002msy.1	-	2	203	c.32A>G	c.(31-33)GAT>GGT	p.D11G	uc002msx.1_Intron|ZNF433_uc002msz.1_5'UTR	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12244607	12244607	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12244607A>T	uc002mtf.1	-	4	537	c.394T>A	c.(394-396)TCA>ACA	p.S132T	ZNF20_uc002mte.1_Missense_Mutation_p.S97T|ZNF20_uc002mtg.1_Missense_Mutation_p.S132T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430623	12430623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12430623A>G	uc002mtp.2	-	4	454	c.216T>C	c.(214-216)AGT>AGC	p.S72S	ZNF563_uc002mtq.2_Silent_p.S72S	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502889	12502889	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12502889C>T	uc010dyt.2	-	4	473	c.323G>A	c.(322-324)AGT>AAT	p.S108N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6																		---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12856292	12856292	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12856292C>T	uc002muv.2	+	3	425	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ASNA1_uc002muw.2_Silent_p.S136S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	137					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)													---	---	---	---
RNASEH2A	10535	broad.mit.edu	37	19	12918104	12918104	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12918104T>C	uc002mvg.1	+	3	344	c.284T>C	c.(283-285)GTG>GCG	p.V95A	RNASEH2A_uc002mvf.1_Missense_Mutation_p.V13A	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	95					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12984255	12984255	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12984255G>A	uc002mvm.2	+	25	3509	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1127					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13006890	13006890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13006890A>G	uc002mvq.2	+	7	667	c.590A>G	c.(589-591)TAC>TGC	p.Y197C	GCDH_uc010xms.1_Missense_Mutation_p.Y164C|GCDH_uc002mvp.2_Missense_Mutation_p.Y197C|GCDH_uc010xmt.1_Missense_Mutation_p.T43A|GCDH_uc010xmu.1_Missense_Mutation_p.Y153C	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	197					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0																		---	---	---	---
CALR	811	broad.mit.edu	37	19	13050442	13050442	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13050442T>C	uc002mvu.2	+	3	474	c.394T>C	c.(394-396)TTT>CTT	p.F132L		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	132	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13226211	13226211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13226211G>A	uc002mwj.2	-	4	773	c.523C>T	c.(523-525)CCT>TCT	p.P175S	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.P175S|TRMT1_uc002mwl.3_Missense_Mutation_p.P175S|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	175							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)														---	---	---	---
STX10	8677	broad.mit.edu	37	19	13255675	13255675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13255675C>T	uc010xnb.1	-	6	481	c.481G>A	c.(481-483)GAT>AAT	p.D161N	STX10_uc002mwn.2_Missense_Mutation_p.D60N|STX10_uc002mwo.2_Missense_Mutation_p.D60N|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.D62N	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	161	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
STX10	8677	broad.mit.edu	37	19	13256151	13256151	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13256151G>A	uc010xnb.1	-	5	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V	STX10_uc002mwn.2_Missense_Mutation_p.A40V|STX10_uc002mwo.2_Missense_Mutation_p.A40V|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.A42V	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	141	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13386759	13386759	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13386759C>A	uc010dze.2	-	24	4133	c.3897G>T	c.(3895-3897)CTG>CTT	p.L1299L	CACNA1A_uc010xnd.1_Silent_p.L4L|CACNA1A_uc002mwx.3_Silent_p.L4L|CACNA1A_uc010dzc.2_Silent_p.L824L|CACNA1A_uc002mwy.3_Silent_p.L1298L|CACNA1A_uc010xne.1_Silent_p.L827L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1299	III.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13411357	13411357	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13411357C>A	uc010dze.2	-						CACNA1A_uc010dzc.2_Intron|CACNA1A_uc002mwy.3_Intron|CACNA1A_uc010xne.1_Intron	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040261	14040261	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040261T>C	uc002mxo.2	+						CC2D1A_uc002mxp.2_Intron|CC2D1A_uc010dzh.2_Intron	NM_017721	NP_060191			coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040966	14040966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040966G>T	uc002mxo.2	+	27	3085	c.2786G>T	c.(2785-2787)AGG>ATG	p.R929M	CC2D1A_uc002mxp.2_Missense_Mutation_p.R928M|CC2D1A_uc010dzh.2_Missense_Mutation_p.R498M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	929					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14043557	14043557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14043557G>A	uc002mxr.2	-	8	1774	c.1500C>T	c.(1498-1500)TGC>TGT	p.C500C	PODNL1_uc010xni.1_Silent_p.C418C|PODNL1_uc010xnj.1_Silent_p.C498C|PODNL1_uc002mxs.2_Silent_p.C409C	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	500						proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)															---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14067214	14067214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14067214T>C	uc002mxt.2	+	6	670	c.664T>C	c.(664-666)TAC>CAC	p.Y222H		NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	222										central_nervous_system(1)	1																		---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14208462	14208462	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14208462G>A	uc002myc.2	-	7	771	c.571C>T	c.(571-573)CGC>TGC	p.R191C	PRKACA_uc002myb.2_Missense_Mutation_p.R183C|PRKACA_uc010xnm.1_Missense_Mutation_p.R133C|PRKACA_uc002myd.2_Missense_Mutation_p.R133C	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14266323	14266323	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14266323C>T	uc010xnn.1	-	19	3453	c.3157G>A	c.(3157-3159)GCC>ACC	p.A1053T	LPHN1_uc010xno.1_Missense_Mutation_p.A1048T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1053	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14273431	14273431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14273431G>A	uc010xnn.1	-	6	1493	c.1197C>T	c.(1195-1197)CCC>CCT	p.P399P	LPHN1_uc010xno.1_Silent_p.P394P|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	399	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14288424	14288424	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14288424T>A	uc010xnn.1	-	3	499	c.203A>T	c.(202-204)GAC>GTC	p.D68V	LPHN1_uc010xno.1_Missense_Mutation_p.D68V	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	68	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
CD97	976	broad.mit.edu	37	19	14517536	14517536	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14517536C>T	uc002myl.2	+	16	2196	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	CD97_uc002mym.2_Silent_p.G642G|CD97_uc002myn.2_Silent_p.G598G	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	691	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4																OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14554388	14554388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14554388G>A	uc002myp.2	+	3	597	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	PKN1_uc002myq.2_Silent_p.Q149Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	143	REM 2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14877148	14877148	+	Missense_Mutation	SNP	G	T	T	rs61732009	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14877148G>T	uc002mzp.1	-	7	989	c.533C>A	c.(532-534)ACC>AAC	p.T178N	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.T178N|EMR2_uc002mzo.1_Missense_Mutation_p.T178N|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	178	EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224405	15224405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15224405G>A	uc002nah.1	+	8	1870	c.1839G>A	c.(1837-1839)GCG>GCA	p.A613A	SYDE1_uc002nai.1_Silent_p.A546A|SYDE1_uc002naj.1_Silent_p.A270A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	613					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15281259	15281259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15281259C>T	uc002nan.2	-	27	5073	c.4997G>A	c.(4996-4998)CGG>CAG	p.R1666Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1666	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15298066	15298066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15298066C>T	uc002nan.2	-	11	1766	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NOTCH3_uc002nao.1_Missense_Mutation_p.A564T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	564	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
EPHX3	79852	broad.mit.edu	37	19	15342831	15342831	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15342831G>A	uc002nap.2	-	1	401	c.192C>T	c.(190-192)CCC>CCT	p.P64P	EPHX3_uc002naq.2_Silent_p.P64P	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	64						extracellular region	hydrolase activity				0																		---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15366170	15366170	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15366170G>A	uc002nar.2	-	10	2207	c.1985C>T	c.(1984-1986)TCC>TTC	p.S662F	BRD4_uc002nas.2_Missense_Mutation_p.S662F|BRD4_uc002nat.3_Missense_Mutation_p.S662F	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15375424	15375424	+	Missense_Mutation	SNP	C	T	T	rs139156485	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15375424C>T	uc002nar.2	-	6	1225	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	BRD4_uc002nas.2_Missense_Mutation_p.V335M|BRD4_uc002nat.3_Missense_Mutation_p.V335M|BRD4_uc002nau.3_Missense_Mutation_p.V335M	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	335					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512058	15512058	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15512058C>T	uc002naw.1	-	5	818	c.719G>A	c.(718-720)GGC>GAC	p.G240D	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.G179D|AKAP8L_uc002nay.1_Missense_Mutation_p.G240D|AKAP8L_uc002naz.2_Missense_Mutation_p.G88D	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535436	15535436	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15535436G>C	uc002nbc.2	-	6	2562	c.2539C>G	c.(2539-2541)CAG>GAG	p.Q847E	WIZ_uc002nba.3_Missense_Mutation_p.Q714E|WIZ_uc002nbb.3_Missense_Mutation_p.Q673E	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1530						nucleus	zinc ion binding				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562668	15562668	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562668G>A	uc002nbe.2	-	18	3060	c.2974C>T	c.(2974-2976)CGG>TGG	p.R992W	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.R406W	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	992					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562916	15562916	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562916G>T	uc002nbe.2	-	17	2918	c.2832C>A	c.(2830-2832)AGC>AGA	p.S944R	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	944	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15566970	15566970	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15566970C>T	uc002nbe.2	-	11	1752	c.1666G>A	c.(1666-1668)GCC>ACC	p.A556T	RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.A44T	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	556	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15587373	15587373	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15587373C>T	uc002nbf.3	-	2	241	c.108G>A	c.(106-108)GAG>GAA	p.E36E	PGLYRP2_uc002nbg.3_Silent_p.E36E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	36					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852497	15852497	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15852497G>A	uc010xoq.1	+	1	295	c.295G>A	c.(295-297)GCC>ACC	p.A99T		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000299	16000299	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16000299A>G	uc002nbs.1	-	7	902	c.852T>C	c.(850-852)GAT>GAC	p.D284D	CYP4F2_uc010xot.1_Silent_p.D135D|CYP4F2_uc010xou.1_Silent_p.D135D	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	284					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MED26	9441	broad.mit.edu	37	19	16686957	16686957	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16686957C>T	uc002nen.1	-	3	1945	c.1684G>A	c.(1684-1686)GGG>AGG	p.G562R	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	562					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2																		---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16790815	16790815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16790815C>T	uc002nes.2	+	2	236	c.145C>T	c.(145-147)CGC>TGC	p.R49C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	49	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910714	16910714	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910714A>T	uc002neu.3	+	17	3899	c.3477A>T	c.(3475-3477)GAA>GAT	p.E1159D	NWD1_uc002net.3_Missense_Mutation_p.E1024D|NWD1_uc002nev.3_Missense_Mutation_p.E953D			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1159	WD 8.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910875	16910875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910875A>G	uc002neu.3	+	17	4060	c.3638A>G	c.(3637-3639)GAC>GGC	p.D1213G	NWD1_uc002net.3_Missense_Mutation_p.D1078G|NWD1_uc002nev.3_Missense_Mutation_p.D1007G			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1213	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16982177	16982177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16982177A>G	uc002ney.1	+	15	2670	c.2656A>G	c.(2656-2658)ATG>GTG	p.M886V	SIN3B_uc002nez.1_Missense_Mutation_p.M854V|SIN3B_uc010xpi.1_Missense_Mutation_p.M444V	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	886					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16989146	16989146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16989146T>C	uc002ney.1	+	19	3217	c.3203T>C	c.(3202-3204)ATC>ACC	p.I1068T	SIN3B_uc002nez.1_Missense_Mutation_p.I1036T|SIN3B_uc010xpi.1_Missense_Mutation_p.I626T|SIN3B_uc010eaj.1_Missense_Mutation_p.I4T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1068					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17007077	17007077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17007077G>A	uc002nfb.2	-	41	5509	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.P291L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1779						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17058046	17058046	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17058046G>A	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17088263	17088263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17088263C>T	uc002nfb.2	-	15	1846	c.1814G>A	c.(1813-1815)CGC>CAC	p.R605H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	558						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R605H(1)		ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17111220	17111220	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17111220T>C	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17338819	17338819	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17338819G>A	uc002nfp.2	+							NM_024578	NP_078854			occludin/ELL domain containing 1											central_nervous_system(1)	1																		---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17487970	17487970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17487970A>G	uc002ngk.1	-	1	178	c.128T>C	c.(127-129)CTC>CCC	p.L43P		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	43	Helical; Signal-anchor for type II membrane protein; (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---
GLT25D1	79709	broad.mit.edu	37	19	17679355	17679355	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17679355G>A	uc002nhc.1	+	5	674	c.662G>A	c.(661-663)CGC>CAC	p.R221H	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	221					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17743650	17743650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17743650G>T	uc002nhd.2	-	28	3633	c.3633C>A	c.(3631-3633)CTC>CTA	p.L1211L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1123	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17759367	17759367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17759367C>T	uc002nhd.2	-	16	1953	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17774358	17774358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17774358C>T	uc002nhd.2	-	9	806	c.806G>A	c.(805-807)GGC>GAC	p.G269D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17780379	17780379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17845130	17845130	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17845130G>A	uc002nhe.1	+	7	3082	c.3073G>A	c.(3073-3075)GCA>ACA	p.A1025T	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A273T|MAP1S_uc010xpv.1_Missense_Mutation_p.A999T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1025	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1																		---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17943652	17943652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17943652C>T	uc002nhn.3	-	18	2537	c.2437G>A	c.(2437-2439)GAC>AAC	p.D813N	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D813N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	813					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56							2	Mis		acute megakaryocytic leukemia|								---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17988883	17988883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17988883G>T	uc002nhr.3	+	7	1297	c.950G>T	c.(949-951)CGC>CTC	p.R317L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	317	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18329232	18329232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18329232T>C	uc010xqc.1	-	10	1622	c.1142A>G	c.(1141-1143)TAC>TGC	p.Y381C	PDE4C_uc002nik.3_Missense_Mutation_p.Y381C|PDE4C_uc002nil.3_Missense_Mutation_p.Y381C|PDE4C_uc002nif.3_Missense_Mutation_p.Y150C|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Missense_Mutation_p.Y151C|PDE4C_uc010ebk.2_Missense_Mutation_p.Y275C|PDE4C_uc002nii.3_Missense_Mutation_p.Y349C|PDE4C_uc010ebl.2_Missense_Mutation_p.Y95C|PDE4C_uc010xqd.1_Missense_Mutation_p.Y150C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	381					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)													---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18547813	18547813	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18547813T>G	uc002njd.1	-	4	435	c.385A>C	c.(385-387)ATG>CTG	p.M129L	ISYNA1_uc002nja.1_Missense_Mutation_p.M1L|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Missense_Mutation_p.M75L|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	129					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
CRLF1	9244	broad.mit.edu	37	19	18707568	18707568	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18707568G>T	uc010ebt.1	-	6	1082	c.888C>A	c.(886-888)TGC>TGA	p.C296*		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	296	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1																		---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18876229	18876229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18876229G>A	uc002nkb.3	+	9	990	c.902G>A	c.(901-903)GGC>GAC	p.G301D	CRTC1_uc010ebv.2_Missense_Mutation_p.G317D|CRTC1_uc010ebw.2_Missense_Mutation_p.G166D|CRTC1_uc002nkc.3_Missense_Mutation_p.G166D	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	301	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519																		---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18965708	18965708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18965708C>T	uc002nkg.2	+	10	1594	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	UPF1_uc002nkf.2_Missense_Mutation_p.T429M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	440					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	p.T429M(1)		ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDF1	2657	broad.mit.edu	37	19	18981026	18981026	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18981026C>T	uc002nki.1	-	7						NM_021267	NP_067090			LAG1 homolog, ceramide synthase 1 isoform 1						growth	extracellular space	cytokine activity|growth factor activity				0																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19040120	19040120	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19040120A>G	uc002nku.2	-	9					HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|HOMER3_uc010eby.2_3'UTR|HOMER3_uc010ebz.2_3'UTR|HOMER3_uc002nkw.2_3'UTR|HOMER3_uc002nkv.2_3'UTR	NM_004838	NP_004829			Homer, neuronal immediate early gene, 3 isoform						metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19040352	19040352	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19040352C>T	uc002nku.2	-	9	1639	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|HOMER3_uc010eby.2_Missense_Mutation_p.R293Q|HOMER3_uc010ebz.2_Missense_Mutation_p.R329Q|HOMER3_uc002nkw.2_Missense_Mutation_p.R326Q|HOMER3_uc002nkv.2_Missense_Mutation_p.R329Q	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	329	Potential.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
SFRS14	10147	broad.mit.edu	37	19	19120711	19120711	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19120711T>C	uc002nkx.2	-	5	2437	c.2291A>G	c.(2290-2292)GAC>GGC	p.D764G	SFRS14_uc002nkz.1_Missense_Mutation_p.D778G|SFRS14_uc002nla.1_Missense_Mutation_p.D764G|SFRS14_uc002nlb.2_Missense_Mutation_p.D764G|SFRS14_uc010xqk.1_Missense_Mutation_p.D533G	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	764	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---
RFXANK	8625	broad.mit.edu	37	19	19308333	19308333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19308333A>G	uc002nls.2	+	6	846	c.341A>G	c.(340-342)GAC>GGC	p.D114G	RFXANK_uc002nlt.2_Missense_Mutation_p.D91G|RFXANK_uc002nlu.2_Missense_Mutation_p.D92G|RFXANK_uc002nlv.2_Missense_Mutation_p.D114G|RFXANK_uc002nlw.2_Missense_Mutation_p.D113G	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	114	ANK 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371751	19371751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371751G>A	uc002nmb.2	-	3	410	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	HAPLN4_uc002nmc.2_Nonsense_Mutation_p.Q119*	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	119	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371882	19371882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371882G>A	uc002nmb.2	-	3	279	c.224C>T	c.(223-225)GCC>GTC	p.A75V	HAPLN4_uc002nmc.2_Missense_Mutation_p.A75V	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	75	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
TSSK6	83983	broad.mit.edu	37	19	19626044	19626044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19626044G>A	uc002nmr.2	-	1	426	c.193C>T	c.(193-195)CGG>TGG	p.R65W	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	65	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R65W(1)		stomach(1)	1																		---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655293	19655293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19655293C>T	uc002nmv.3	+	8	2024	c.1939C>T	c.(1939-1941)CTC>TTC	p.L647F	CILP2_uc002nmw.3_Missense_Mutation_p.L653F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	647						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1																		---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19745618	19745618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19745618T>C	uc002nnd.2	-	17	1987	c.1870A>G	c.(1870-1872)AAG>GAG	p.K624E	GMIP_uc010xrb.1_Missense_Mutation_p.K598E|GMIP_uc010xrc.1_Missense_Mutation_p.K595E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	624	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758026	19758026	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758026T>C	uc002nnh.3	-	22	3045	c.3017A>G	c.(3016-3018)TAC>TGC	p.Y1006C	ATP13A1_uc002nne.2_Missense_Mutation_p.Y146C|ATP13A1_uc002nnf.3_Missense_Mutation_p.Y374C|ATP13A1_uc002nng.2_Missense_Mutation_p.Y888C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1006	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19766929	19766929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19766929C>T	uc002nnh.3	-	8	1175	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.V265I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	383	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ZNF506	440515	broad.mit.edu	37	19	19905511	19905511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19905511T>C	uc010eci.2	-	4	1333	c.1185A>G	c.(1183-1185)AAA>AAG	p.K395K	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.K363K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20003500	20003500	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20003500G>A	uc002noj.2	+	4	1536	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	ZNF253_uc002nok.2_Missense_Mutation_p.V406M|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117228	20117228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117228T>C	uc002noq.2	-	4	1206	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	ZNF682_uc002noo.2_Silent_p.V329V|ZNF682_uc002nop.2_Silent_p.V329V|ZNF682_uc010eck.2_Silent_p.V285V	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117462	20117462	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117462T>G	uc002noq.2	-	4	972	c.849A>C	c.(847-849)AAA>AAC	p.K283N	ZNF682_uc002noo.2_Missense_Mutation_p.K251N|ZNF682_uc002nop.2_Missense_Mutation_p.K251N|ZNF682_uc010eck.2_Missense_Mutation_p.K207N	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117540	20117540	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117540G>A	uc002noq.2	-	4	894	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	ZNF682_uc002noo.2_Silent_p.Y225Y|ZNF682_uc002nop.2_Silent_p.Y225Y|ZNF682_uc010eck.2_Silent_p.Y181Y	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	257	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131805	21131805	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21131805A>G	uc002npg.3	+	4	612	c.485A>G	c.(484-486)AAC>AGC	p.N162S	ZNF85_uc010ecn.2_Missense_Mutation_p.N97S|ZNF85_uc010eco.2_Missense_Mutation_p.N110S|ZNF85_uc002npi.2_Missense_Mutation_p.N103S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	162	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240721	21240721	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21240721C>G	uc002npj.2	+	5	1717	c.1607C>G	c.(1606-1608)ACT>AGT	p.T536S	ZNF430_uc002npk.2_Missense_Mutation_p.T535S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21477270	21477270	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21477270A>T	uc002npq.1	-	4	696	c.498T>A	c.(496-498)AAT>AAA	p.N166K	ZNF708_uc002npr.1_Missense_Mutation_p.N102K|ZNF708_uc010ecs.1_Missense_Mutation_p.N102K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607090	21607090	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607090A>C	uc002npx.2	+	2	1525	c.1245A>C	c.(1243-1245)AAA>AAC	p.K415N	ZNF493_uc002npw.2_Missense_Mutation_p.K543N|ZNF493_uc002npy.2_Missense_Mutation_p.K415N	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607791	21607791	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607791T>C	uc002npx.2	+	2					ZNF493_uc002npw.2_3'UTR|ZNF493_uc002npy.2_3'UTR	NM_175910	NP_787106			zinc finger protein 493 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720176	21720176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21720176A>G	uc002nqd.1	+	4	1458	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	441	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21909534	21909534	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21909534C>A	uc002nqi.2	-	5	1779	c.1580G>T	c.(1579-1581)AGC>ATC	p.S527I	ZNF100_uc002nqh.2_Missense_Mutation_p.S463I	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910359	21910359	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21910359C>T	uc002nqi.2	-	5	954	c.755G>A	c.(754-756)AGG>AAG	p.R252K	ZNF100_uc002nqh.2_Missense_Mutation_p.R188K	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	252	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991813	21991813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991813G>A	uc002nqj.2	-	4	1156	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	ZNF43_uc010ecv.2_Silent_p.Y336Y|ZNF43_uc002nql.2_Silent_p.Y336Y|ZNF43_uc002nqm.2_Silent_p.Y336Y|ZNF43_uc002nqk.2_Silent_p.Y272Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22255727	22255727	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22255727G>A	uc010ecx.2	+	2	289	c.120G>A	c.(118-120)CTG>CTA	p.L40L	ZNF257_uc010ecy.2_Silent_p.L8L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364184	22364184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22364184A>G	uc002nqs.1	-	3	653	c.335T>C	c.(334-336)GTA>GCA	p.V112A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941684	22941684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22941684A>G	uc010xrh.1	-	5	754	c.754T>C	c.(754-756)TGT>CGT	p.C252R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30308410	30308410	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30308410C>T	uc002nsn.2	+	6	607	c.424C>T	c.(424-426)CCA>TCA	p.P142S	CCNE1_uc002nso.2_Missense_Mutation_p.P127S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	142					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30312895	30312895	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30312895T>A	uc002nsn.2	+						CCNE1_uc002nso.2_Intron|CCNE1_uc002nsp.2_5'UTR	NM_001238	NP_001229			cyclin E1 isoform 1						androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
C19orf2	8725	broad.mit.edu	37	19	30503413	30503413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30503413T>G	uc002nsr.2	+	10	1430	c.1400T>G	c.(1399-1401)CTT>CGT	p.L467R	C19orf2_uc002nsq.2_Missense_Mutation_p.L449R|C19orf2_uc002nss.2_Missense_Mutation_p.L427R|C19orf2_uc002nst.2_Missense_Mutation_p.L391R	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	467					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039501	31039501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31039501T>C	uc002nsu.1	+	4	3113	c.2975T>C	c.(2974-2976)GTA>GCA	p.V992A	ZNF536_uc010edd.1_Missense_Mutation_p.V992A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769837	31769837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769837G>A	uc002nsy.3	-	2	927	c.862C>T	c.(862-864)CAG>TAG	p.Q288*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	288	C2H2-type 2.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769888	31769888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769888C>T	uc002nsy.3	-	2	876	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	271					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33117683	33117683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33117683C>T	uc002ntn.1	-	16	1627	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	491	ANK 2.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33585162	33585162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33585162C>T	uc002nug.1	+	5	854	c.540C>T	c.(538-540)CGC>CGT	p.R180R		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	180	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33602641	33602641	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33602641C>T	uc002nug.1	+	12	1911	c.1597C>T	c.(1597-1599)CGC>TGC	p.R533C	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	533						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33623191	33623191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33623191C>T	uc002nui.2	+	1	194	c.116C>T	c.(115-117)GCG>GTG	p.A39V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	39										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33666372	33666372	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33666372T>C	uc002nui.2	+	11	1391	c.1313T>C	c.(1312-1314)GTG>GCG	p.V438A		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	438										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34180174	34180174	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34180174C>A	uc002nus.3	+	3	512	c.7C>A	c.(7-9)CTG>ATG	p.L3M	CHST8_uc002nut.3_Missense_Mutation_p.L3M|CHST8_uc002nuu.2_Missense_Mutation_p.L3M	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	3	Cytoplasmic (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34292139	34292139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34292139T>C	uc002nuy.3	+	4	402	c.134T>C	c.(133-135)ATC>ACC	p.I45T	KCTD15_uc002nuv.2_Missense_Mutation_p.I45T|KCTD15_uc002nuw.3_Missense_Mutation_p.I45T|KCTD15_uc010xrt.1_Missense_Mutation_p.I45T|KCTD15_uc002nux.3_Missense_Mutation_p.I45T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34302406	34302406	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34302406G>A	uc002nuy.3	+	6	910	c.642G>A	c.(640-642)ACG>ACA	p.T214T	KCTD15_uc002nuv.2_Silent_p.T214T|KCTD15_uc002nuw.3_Silent_p.T214T|KCTD15_uc010xrt.1_Silent_p.T214T|KCTD15_uc002nux.3_Silent_p.T214T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34839981	34839981	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34839981G>C	uc002nvd.3	+	12	3607	c.2748G>C	c.(2746-2748)GAG>GAC	p.E916D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	916										ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887230	34887230	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34887230T>C	uc002nvg.1	+	13	1190	c.1087T>C	c.(1087-1089)TAC>CAC	p.Y363H	GPI_uc002nvf.2_Missense_Mutation_p.Y402H|GPI_uc010xrv.1_Missense_Mutation_p.Y374H|GPI_uc010xrw.1_Missense_Mutation_p.Y335H|GPI_uc010edl.1_Missense_Mutation_p.Y363H|GPI_uc002nvi.1_Missense_Mutation_p.Y26H	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	363					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)																	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34929585	34929585	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34929585G>A	uc002nvk.2	+	6	565	c.495G>A	c.(493-495)CCG>CCA	p.P165P	UBA2_uc010xrx.1_Silent_p.P38P|UBA2_uc002nvl.2_Silent_p.P69P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34935965G>A	uc002nvk.2	+	8	780	c.710G>A	c.(709-711)CGT>CAT	p.R237H	UBA2_uc010xrx.1_Missense_Mutation_p.R110H|UBA2_uc002nvl.2_Missense_Mutation_p.R141H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35512908	35512908	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35512908G>T	uc010xse.1	+	16	1944	c.1807G>T	c.(1807-1809)GGC>TGC	p.G603C	GRAMD1A_uc002nxk.2_Missense_Mutation_p.G596C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G369C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.G608C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G218C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	603						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)															---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556188	35556188	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35556188C>T	uc002nxq.1	+	11	1091	c.846C>T	c.(844-846)GGC>GGT	p.G282G	HPN_uc002nxr.1_Silent_p.G282G|HPN_uc002nxs.1_Silent_p.G124G|HPN_uc010xsh.1_Silent_p.G251G|HPN_uc002nxt.1_Silent_p.G166G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	282	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)													---	---	---	---
FAM187B	148109	broad.mit.edu	37	19	35719391	35719391	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35719391T>C	uc002nyk.1	-	1	238	c.193A>G	c.(193-195)AGC>GGC	p.S65G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65	Extracellular (Potential).					integral to membrane				ovary(2)	2																		---	---	---	---
DMKN	93099	broad.mit.edu	37	19	35990851	35990851	+	Intron	SNP	C	T	T	rs148824329	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35990851C>T	uc002nzm.3	-						DMKN_uc002nzi.3_Intron|DMKN_uc002nzj.2_Intron|DMKN_uc002nzk.3_Intron|DMKN_uc002nzl.3_Intron|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_Intron|DMKN_uc002nzr.2_Intron|DMKN_uc002nzp.2_Intron|DMKN_uc002nzq.2_Intron|DMKN_uc002nzt.2_Intron|DMKN_uc002nzs.2_Intron|DMKN_uc002nzu.2_Intron|DMKN_uc002nzv.2_Intron	NM_033317	NP_201574			dermokine isoform 2 precursor							extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36045887	36045887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36045887G>A	uc002oal.1	-	16	2447	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	806	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046363	36046363	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36046363G>T	uc002oal.1	-	14	2165	c.2136C>A	c.(2134-2136)ATC>ATA	p.I712I	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	712	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36109909	36109909	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36109909A>G	uc002oam.1	+	13	1188	c.1137A>G	c.(1135-1137)CTA>CTG	p.L379L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	379	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0																		---	---	---	---
UPK1A	11045	broad.mit.edu	37	19	36157788	36157788	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36157788T>A	uc002oaw.2	+	1	74	c.74T>A	c.(73-75)ATC>AAC	p.I25N	UPK1A_uc010eeh.2_Missense_Mutation_p.I25N	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36224532	36224532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36224532C>T	uc010eei.2	+	30	6994	c.6994C>T	c.(6994-6996)CGT>TGT	p.R2332C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2332					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2334C(1)		central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36229256	36229256	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36229256G>A	uc010eei.2	+	38	7946	c.7946G>A	c.(7945-7947)CGC>CAC	p.R2649H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2649	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
TMEM149	79713	broad.mit.edu	37	19	36230664	36230664	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36230664A>G	uc002obc.2	-	4	769	c.668T>C	c.(667-669)CTG>CCG	p.L223P	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.L223P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L303P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	223	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36575648	36575648	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36575648T>C	uc002odc.2	+	12	1733	c.1642_splice	c.e12+2	p.G548_splice	WDR62_uc002odd.2_Splice_Site_p.G548_splice	NM_173636	NP_775907			WD repeat domain 62 isoform 2						cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36593712	36593712	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36593712T>C	uc002odc.2	+	27	3370	c.3279T>C	c.(3277-3279)AGT>AGC	p.S1093S	WDR62_uc002odd.2_Silent_p.S1098S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1093					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
POLR2I	5438	broad.mit.edu	37	19	36604659	36604659	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36604659A>G	uc002ode.2	-	6	824	c.376T>C	c.(376-378)TGA>CGA	p.*126R	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
CAPNS1	826	broad.mit.edu	37	19	36633880	36633880	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36633880G>A	uc002odj.2	+						CAPNS1_uc002odi.1_Intron|CAPNS1_uc002odk.2_Intron|CAPNS1_uc002odl.2_Intron	NM_001749	NP_001740			calpain, small subunit 1						positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
COX7A1	1346	broad.mit.edu	37	19	36642422	36642422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36642422C>T	uc002odm.1	-	3	591	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_001864	NP_001855	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1	43	Mitochondrial matrix (By similarity).				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884782	36884782	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36884782G>T	uc002ody.1	-	5	695	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36939920	36939920	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36939920A>G	uc002oea.3	-	5	1298	c.1216T>C	c.(1216-1218)TAT>CAT	p.Y406H	ZNF566_uc010xte.1_Missense_Mutation_p.Y406H|ZNF566_uc010xtf.1_Missense_Mutation_p.Y407H|ZNF566_uc002oeb.3_Missense_Mutation_p.Y406H|ZNF566_uc002oec.3_Missense_Mutation_p.Y302H|ZNF566_uc010xtg.1_Missense_Mutation_p.Y302H	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37037873	37037873	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37037873A>G	uc002oeh.3	-	5	1789	c.1587T>C	c.(1585-1587)ACT>ACC	p.T529T	ZNF529_uc010xth.1_Silent_p.T529T|ZNF529_uc010xti.1_Silent_p.T511T|ZNF529_uc002oeg.3_Silent_p.T424T	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37038467	37038467	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37038467A>G	uc002oeh.3	-	5	1195	c.993T>C	c.(991-993)ATT>ATC	p.I331I	ZNF529_uc010xth.1_Silent_p.I331I|ZNF529_uc010xti.1_Silent_p.I313I|ZNF529_uc002oeg.3_Silent_p.I226I	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	298	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37117166	37117166	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37117166C>A	uc002oek.2	+	5	480	c.367C>A	c.(367-369)CTA>ATA	p.L123I	ZNF382_uc010efa.2_Missense_Mutation_p.L74I|ZNF382_uc010efb.2_Missense_Mutation_p.L122I|ZNF382_uc002oel.2_Missense_Mutation_p.L122I	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	123	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37441575	37441575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37441575G>A	uc002ofc.2	+	7	2035	c.1520G>A	c.(1519-1521)TGT>TAT	p.C507Y	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C431Y|ZNF568_uc010efe.2_Missense_Mutation_p.C431Y|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	507	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37903927	37903927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37903927T>C	uc002ogi.2	-	6	2191	c.1633A>G	c.(1633-1635)ACA>GCA	p.T545A	ZNF569_uc002ogh.2_Missense_Mutation_p.T386A|ZNF569_uc002ogj.2_Missense_Mutation_p.T569A	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127031	38127031	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127031A>G	uc002ogv.1	-	6	927	c.411T>C	c.(409-411)CCT>CCC	p.P137P	ZFP30_uc002ogw.1_Silent_p.P137P|ZFP30_uc002ogx.1_Silent_p.P137P|ZFP30_uc010xtt.1_Silent_p.P136P	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127206	38127206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127206T>A	uc002ogv.1	-	6	752	c.236A>T	c.(235-237)GAT>GTT	p.D79V	ZFP30_uc002ogw.1_Missense_Mutation_p.D79V|ZFP30_uc002ogx.1_Missense_Mutation_p.D79V|ZFP30_uc010xtt.1_Missense_Mutation_p.D78V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190323	38190323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190323A>G	uc002ohc.1	-	5	1305	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y236H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190374	38190374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190374A>G	uc002ohc.1	-	5	1254	c.658T>C	c.(658-660)TAT>CAT	p.Y220H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y219H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190740	38190740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190740G>A	uc002ohc.1	-	5	888	c.292C>T	c.(292-294)CAC>TAC	p.H98Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H97Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
GGN	199720	broad.mit.edu	37	19	38877100	38877100	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38877100G>A	uc002oij.1	-	3	937	c.802C>T	c.(802-804)CTG>TTG	p.L268L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.L185L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	268	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38910772	38910772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38910772G>T	uc002oir.2	-	5	722	c.508C>A	c.(508-510)CTC>ATC	p.L170I	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L170I|RASGRP4_uc010xub.1_Missense_Mutation_p.L170I|RASGRP4_uc010xuc.1_Missense_Mutation_p.L170I|RASGRP4_uc010xud.1_Missense_Mutation_p.L170I|RASGRP4_uc010xue.1_Missense_Mutation_p.L170I|RASGRP4_uc010egb.2_Missense_Mutation_p.L170I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38912707	38912707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38912707C>T	uc002oir.2	-	2	324	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R37Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R37Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	37					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38986843	38986843	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38986843G>A	uc002oit.2	+						RYR1_uc002oiu.2_Intron|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38990633	38990633	+	Missense_Mutation	SNP	G	A	A	rs121918593		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38990633G>A	uc002oit.2	+	45	7430	c.7300G>A	c.(7300-7302)GGA>AGA	p.G2434R	RYR1_uc002oiu.2_Missense_Mutation_p.G2434R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2434	Cytoplasmic.|6 X approximate repeats.		G -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39028590	39028590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39028590G>A	uc002oit.2	+	84	11809	c.11679G>A	c.(11677-11679)GGG>GGA	p.G3893G	RYR1_uc002oiu.2_Silent_p.G3888G|RYR1_uc002oiv.1_Silent_p.G802G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39207920	39207920	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39207920G>A	uc002oja.1	+	10	1166	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	ACTN4_uc010egc.1_Silent_p.R369R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	369	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39334720	39334720	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39334720C>T	uc010xul.1	-	5	746	c.735G>A	c.(733-735)CAG>CAA	p.Q245Q	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Silent_p.Q112Q|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	245	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)															---	---	---	---
PAPL	390928	broad.mit.edu	37	19	39597717	39597717	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39597717A>T	uc002oki.2	+	12	1518	c.1244A>T	c.(1243-1245)GAC>GTC	p.D415V	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	415						extracellular region	acid phosphatase activity|metal ion binding				0																		---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39669173	39669173	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39669173C>T	uc002okj.1	+	11	2191	c.1730C>T	c.(1729-1731)CCG>CTG	p.P577L	PAK4_uc002okl.1_Missense_Mutation_p.P577L|PAK4_uc002okn.1_Missense_Mutation_p.P577L|PAK4_uc002okm.1_Missense_Mutation_p.P424L|PAK4_uc002oko.1_Missense_Mutation_p.P424L|PAK4_uc002okp.1_Missense_Mutation_p.P487L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	577					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)															---	---	---	---
IL28B	282617	broad.mit.edu	37	19	39734787	39734787	+	Missense_Mutation	SNP	C	T	T	rs144570763		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
IL28A	282616	broad.mit.edu	37	19	39760407	39760407	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39760407G>A	uc002oku.1	+	5	502	c.450G>A	c.(448-450)AGG>AGA	p.R150R		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	150					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39804819	39804819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39804819G>A	uc002okw.2	-	1	1158	c.1158C>T	c.(1156-1158)TGC>TGT	p.C386C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	386	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
PAF1	54623	broad.mit.edu	37	19	39879188	39879188	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39879188C>T	uc002old.2	-						PAF1_uc002ole.1_Intron|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961			Paf1, RNA polymerase II associated factor,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)															---	---	---	---
MED29	55588	broad.mit.edu	37	19	39888188	39888188	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39888188A>C	uc002olf.2	+	4	552	c.515A>C	c.(514-516)CAG>CCG	p.Q172P	MED29_uc010xuw.1_Missense_Mutation_p.S149R|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)													OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39906037	39906037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39906037G>A	uc010xuz.1	+	4	762	c.437G>A	c.(436-438)GGC>GAC	p.G146D	PLEKHG2_uc010xuy.1_Missense_Mutation_p.G87D|PLEKHG2_uc002olj.2_Missense_Mutation_p.G146D|PLEKHG2_uc010xva.1_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	146	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
DLL3	10683	broad.mit.edu	37	19	39995888	39995888	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39995888A>T	uc002olx.2	+	6	948	c.890A>T	c.(889-891)GAA>GTA	p.E297V	DLL3_uc010egq.2_Missense_Mutation_p.E297V|DLL3_uc002olw.2_Missense_Mutation_p.E297V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	297	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
LGALS14	56891	broad.mit.edu	37	19	40197239	40197239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40197239A>G	uc002omg.2	+	2	241	c.18A>G	c.(16-18)GTA>GTG	p.V6V	LGALS14_uc002omf.2_Silent_p.V35V	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	6	Galectin.			SLPV -> ITPG (in Ref. 1; AAP97241).		nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)															---	---	---	---
CLC	1178	broad.mit.edu	37	19	40225044	40225044	+	Missense_Mutation	SNP	C	T	T	rs140514392	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40225044C>T	uc002omh.2	-	3	258	c.182G>A	c.(181-183)CGT>CAT	p.R61H		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	61	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)														---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321416	40321416	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321416G>C	uc002omj.2	-	3	351	c.71C>G	c.(70-72)CCT>CGT	p.P24R	DYRK1B_uc002omi.2_Missense_Mutation_p.P24R|DYRK1B_uc002omk.2_Missense_Mutation_p.P24R|DYRK1B_uc002oml.2_Missense_Mutation_p.P24R	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	24					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321423	40321423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321423C>T	uc002omj.2	-	3	344	c.64G>A	c.(64-66)GTA>ATA	p.V22I	DYRK1B_uc002omi.2_Missense_Mutation_p.V22I|DYRK1B_uc002omk.2_Missense_Mutation_p.V22I|DYRK1B_uc002oml.2_Missense_Mutation_p.V22I	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	22					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362933	40362933	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40362933C>T	uc002omp.3	-	32	15145	c.15137G>A	c.(15136-15138)AGC>AAC	p.S5046N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5046	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40364395	40364395	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40364395A>G	uc002omp.3	-	31	14255	c.14247T>C	c.(14245-14247)GGT>GGC	p.G4749G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4749	TIL 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40485987	40485987	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40485987G>A	uc002omq.2	+	8	889	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PSMC4_uc002omr.2_Silent_p.E253E	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40521505	40521505	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40521505C>A	uc002oms.2	+	7	2584	c.2328C>A	c.(2326-2328)CCC>CCA	p.P776P	ZNF546_uc002omt.2_Silent_p.P750P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581085	40581085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40581085A>G	uc002omy.2	-	6	1489	c.1264T>C	c.(1264-1266)TGT>CGT	p.C422R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C422R|ZNF780A_uc010xvh.1_Missense_Mutation_p.C423R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	422	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40882661	40882661	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40882661A>G	uc002onm.3	+	11	1563	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PLD3_uc002onj.3_Missense_Mutation_p.T389A|PLD3_uc002onk.3_Missense_Mutation_p.T389A|PLD3_uc002onl.3_Missense_Mutation_p.T389A|PLD3_uc002onn.2_Missense_Mutation_p.T389A	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	389	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)															---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41183257	41183257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41183257T>C	uc002oon.2	-	7	778	c.610A>G	c.(610-612)AAG>GAG	p.K204E	NUMBL_uc010xvq.1_Missense_Mutation_p.K163E|NUMBL_uc002ooo.2_Missense_Mutation_p.K204E|NUMBL_uc010xvr.1_Missense_Mutation_p.K163E	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	204	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)															---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41518216	41518216	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41518216G>A	uc002opr.1	+	7	985	c.978G>A	c.(976-978)AGG>AGA	p.R326R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.R126R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	326					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)													---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594537	41594537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41594537T>A	uc002opt.2	+	1	170	c.161T>A	c.(160-162)ATG>AAG	p.M54K		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	54					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)													---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41704403	41704403	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41704403C>T	uc002opw.2	+	4	585	c.530C>T	c.(529-531)GCC>GTC	p.A177V	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1																		---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41808566	41808566	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41808566C>A	uc002oqb.3	+						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_Intron|HNRNPUL1_uc010eho.2_Intron|HNRNPUL1_uc010xvy.1_Intron|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.L86I	NM_007040	NP_008971			heterogeneous nuclear ribonucleoprotein U-like 1						nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825542	41825542	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41825542T>A	uc002oqg.2	+	3	688	c.566T>A	c.(565-567)ATC>AAC	p.I189N	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	189											0																		---	---	---	---
TMEM91	641649	broad.mit.edu	37	19	41889623	41889623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41889623A>G	uc002oqk.3	+	4	715	c.364A>G	c.(364-366)AAC>GAC	p.N122D	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_3'UTR|TMEM91_uc010ehq.2_Intron|TMEM91_uc002oql.2_3'UTR|TMEM91_uc010ehr.2_Intron|TMEM91_uc010ehs.2_Intron|TMEM91_uc010eht.2_Intron|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_3'UTR	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	122					response to biotic stimulus	integral to membrane					0																		---	---	---	---
B3GNT8	374907	broad.mit.edu	37	19	41931597	41931597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41931597T>C	uc002oqs.2	-	3	1541	c.1087A>G	c.(1087-1089)ACT>GCT	p.T363A	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	363	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41937145	41937145	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41937145T>C	uc010xvw.1	+						B3GNT8_uc002oqs.2_5'Flank					SubName: Full=cDNA FLJ51986, highly similar to Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA;						naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0																		---	---	---	---
CEACAM6	4680	broad.mit.edu	37	19	42265942	42265942	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42265942C>A	uc002orm.2	+	4	918	c.769C>A	c.(769-771)CTC>ATC	p.L257I		NM_002483	NP_002474	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion	257	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)														---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383300	42383300	+	Missense_Mutation	SNP	G	A	A	rs143511203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383300G>A	uc002orv.2	+	2	505	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	107	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383344	42383344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383344T>C	uc002orv.2	+	2	549	c.364T>C	c.(364-366)TAC>CAC	p.Y122H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	122	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42557982G>A	uc002osj.1	-	9	1191	c.1156C>T	c.(1156-1158)CGT>TGT	p.R386C	GRIK5_uc010eib.1_Missense_Mutation_p.R305C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	386	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584439	42584439	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584439A>G	uc002osm.3	+	2	1850	c.1681A>G	c.(1681-1683)ACG>GCG	p.T561A	ZNF574_uc002osk.3_Missense_Mutation_p.T651A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	561	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584644	42584644	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584644T>A	uc002osm.3	+	2	2055	c.1886T>A	c.(1885-1887)GTC>GAC	p.V629D	ZNF574_uc002osk.3_Missense_Mutation_p.V719D	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	629	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753689	42753689	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42753689C>T	uc002ote.3	-	4	733	c.575G>A	c.(574-576)GGC>GAC	p.G192D	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	192					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)																---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827839	42827839	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42827839T>C	uc002otk.1	+	14	1351	c.1299T>C	c.(1297-1299)GCT>GCC	p.A433A	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	433						integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42861608	42861608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42861608G>A	uc002otl.3	+	27	5317	c.4682G>A	c.(4681-4683)CGC>CAC	p.R1561H	MEGF8_uc002otm.3_Missense_Mutation_p.R1169H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1628	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42911548	42911548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42911548G>A	uc002otr.2	-	6	2192	c.1915C>T	c.(1915-1917)CAG>TAG	p.Q639*	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	639					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)																---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43015763	43015763	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43015763T>C	uc002otv.2	-	7	1507	c.1394A>G	c.(1393-1395)GAT>GGT	p.D465G	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Missense_Mutation_p.D400G|CEACAM1_uc002oty.2_Missense_Mutation_p.D369G|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Missense_Mutation_p.D191G	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	465	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)													---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43420352	43420352	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43420352A>T	uc002ovj.1	-	2	404	c.352T>A	c.(352-354)TCC>ACC	p.S118T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.S118T|PSG6_uc002ovg.1_Missense_Mutation_p.S118T	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43439553	43439553	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439553C>T	uc002ovh.1	-						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc002ovl.3_Intron|PSG7_uc010xwl.1_Intron					SubName: Full=Putative uncharacterized protein PSG6;						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439623	43439623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439623A>G	uc002ovl.3	-	3	465	c.363T>C	c.(361-363)ACT>ACC	p.T121T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	121	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43683057	43683057	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43683057C>T	uc002ovu.2	-						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Intron|PSG5_uc002ovv.2_Missense_Mutation_p.S228N|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772			pregnancy specific beta-1-glycoprotein 5						female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)																---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43968517	43968517	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43968517G>A	uc002owl.1	-	2	279	c.171C>T	c.(169-171)GGC>GGT	p.G57G	LYPD3_uc002owm.2_Silent_p.G57G	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	57	UPAR/Ly6 1.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)																---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44278390	44278390	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44278390G>T	uc002oxl.2	-	3	1033	c.637C>A	c.(637-639)CTT>ATT	p.L213I	KCNN4_uc010eiz.2_Missense_Mutation_p.L126I|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	213	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44339699	44339699	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44339699C>A	uc002oxr.3	+	5	433	c.165C>A	c.(163-165)TCC>TCA	p.S55S	ZNF283_uc002oxp.3_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---
ZNF45	7596	broad.mit.edu	37	19	44418273	44418273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44418273T>C	uc002oxu.1	-	4	1414	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	ZNF45_uc002oxw.1_Missense_Mutation_p.T439A|ZNF45_uc002oxv.1_Missense_Mutation_p.T439A	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	439					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44564934	44564934	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44564934T>C	uc002oyf.1	+	4	428	c.175T>C	c.(175-177)TTT>CTT	p.F59L	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44738911	44738911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44738911T>A	uc002oyu.2	+	6	533	c.328T>A	c.(328-330)TCA>ACA	p.S110T	ZNF227_uc010xwu.1_Missense_Mutation_p.S59T|ZNF227_uc002oyv.2_Missense_Mutation_p.S110T|ZNF227_uc010xwv.1_Missense_Mutation_p.S59T|ZNF227_uc010xww.1_Missense_Mutation_p.S31T|ZNF227_uc002oyw.2_Missense_Mutation_p.S82T|ZNF227_uc010ejh.2_Missense_Mutation_p.S103T|ZNF235_uc002oyx.1_RNA	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44740625	44740625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44740625G>A	uc002oyu.2	+	6	2247	c.2042G>A	c.(2041-2043)GGC>GAC	p.G681D	ZNF227_uc010xwu.1_Missense_Mutation_p.G630D|ZNF227_uc002oyv.2_Missense_Mutation_p.G681D|ZNF227_uc010xwv.1_Missense_Mutation_p.G630D|ZNF227_uc010xww.1_Missense_Mutation_p.G602D|ZNF227_uc002oyw.2_Missense_Mutation_p.G653D|ZNF227_uc010ejh.2_Missense_Mutation_p.G674D|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	681	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44777661	44777661	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44777661A>C	uc002oyz.1	+	5	975	c.848A>C	c.(847-849)GAC>GCC	p.D283A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.D98A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44778453	44778453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44778453A>G	uc002oyz.1	+	5	1767	c.1640A>G	c.(1639-1641)CAG>CGG	p.Q547R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q362R	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44890966	44890966	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44890966C>A	uc002ozd.3	-	4	1528	c.1441G>T	c.(1441-1443)GAA>TAA	p.E481*	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.E488*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44892260	44892260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44892260G>A	uc002ozd.3	-	4	234	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D56D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933132	44933132	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44933132A>G	uc002oze.1	-	6	2258	c.1824T>C	c.(1822-1824)GGT>GGC	p.G608G	ZNF229_uc010ejk.1_Silent_p.G262G|ZNF229_uc010ejl.1_Silent_p.G602G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	608	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45209070	45209070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45209070A>G	uc010xxd.1	+	5	1078	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	CEACAM16_uc002ozq.2_Missense_Mutation_p.Y350C	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	291										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)																---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381765	45381765	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45381765A>G	uc002ozw.1	+						PVRL2_uc002ozv.2_Missense_Mutation_p.E443G	NM_001042724	NP_001036189			poliovirus receptor related 2 isoform delta						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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45391415	45391415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45391415C>T	uc002ozw.1	+	9	1786	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	466	Cytoplasmic (Potential).				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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
APOC2	344	broad.mit.edu	37	19	45452442	45452442	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45452442C>A	uc002pah.2	+	4	345	c.242C>A	c.(241-243)GCC>GAC	p.A81D		NM_000483	NP_000474	P02655	APOC2_HUMAN	apolipoprotein C-II precursor	81					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity			kidney(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)														---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45477800	45477800	+	Silent	SNP	C	T	T	rs150833300	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45477800C>T	uc002pai.2	+	4	429	c.414C>T	c.(412-414)AGC>AGT	p.S138S	CLPTM1_uc010ejv.1_Silent_p.S36S|CLPTM1_uc010xxf.1_Silent_p.S36S|CLPTM1_uc010xxg.1_Silent_p.S124S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	138	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---
RELB	5971	broad.mit.edu	37	19	45540714	45540714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45540714G>A	uc002paj.1	+	13	1532	c.1406G>A	c.(1405-1407)GGC>GAC	p.G469D	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	469						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)														---	---	---	---
SFRS16	11129	broad.mit.edu	37	19	45573341	45573341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45573341C>T	uc002pak.2	+	19	2034	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R584C|SFRS16_uc002pam.2_Missense_Mutation_p.R627C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	646	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45656571	45656571	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45656571C>T	uc010xxi.1	-	4	1124	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)														---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45860791	45860791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45860791C>T	uc002pbj.2	-	14	1365	c.1318G>A	c.(1318-1320)GCC>ACC	p.A440T	ERCC2_uc002pbh.2_Missense_Mutation_p.A3T|ERCC2_uc002pbi.2_Missense_Mutation_p.A133T|ERCC2_uc010ejz.2_Missense_Mutation_p.A362T|ERCC2_uc002pbk.2_Missense_Mutation_p.A416T	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	440	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45867315	45867315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45867315C>T	uc002pbj.2	-	10	925	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R215Q|ERCC2_uc002pbk.2_Missense_Mutation_p.R269Q|ERCC2_uc002pbl.3_Missense_Mutation_p.R269Q|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	293					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45873415	45873415	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45873415C>T	uc002pbj.2	-	2	128	c.81G>A	c.(79-81)GAG>GAA	p.E27E	ERCC2_uc010ejz.2_Silent_p.E27E|ERCC2_uc002pbk.2_Silent_p.E3E|ERCC2_uc002pbl.3_Silent_p.E3E|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	27	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45912637	45912637	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45912637C>T	uc002pbq.1	+	3	1899	c.1411C>T	c.(1411-1413)CGG>TGG	p.R471W	CD3EAP_uc002pbr.1_Missense_Mutation_p.R473W	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	471					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)														---	---	---	---
RTN2	6253	broad.mit.edu	37	19	45998181	45998181	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45998181C>A	uc002pcb.2	-	3	390	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	RTN2_uc002pcc.2_Missense_Mutation_p.Q54H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	54						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)														---	---	---	---
GPR4	2828	broad.mit.edu	37	19	46094232	46094232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46094232G>A	uc002pcm.2	-	2	1838	c.893C>T	c.(892-894)GCC>GTC	p.A298V	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	298	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)														---	---	---	---
EML2	24139	broad.mit.edu	37	19	46136131	46136131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46136131G>A	uc002pcn.2	-	6	533	c.498C>T	c.(496-498)GGC>GGT	p.G166G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G50G|EML2_uc010xxl.1_Silent_p.G313G|EML2_uc010xxm.1_Silent_p.G367G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G166G|EML2_uc010ekj.2_Silent_p.G166G|EML2_uc010ekk.1_5'Flank	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	166	WD 2.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)														---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46191820	46191820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46191820G>T	uc002pcw.2	-	2	304	c.7C>A	c.(7-9)CTC>ATC	p.L3I	SNRPD2_uc002pcv.2_5'UTR	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	3					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)														---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46216103	46216103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46216103C>T	uc002pcy.2	-	2	776	c.651G>A	c.(649-651)CGG>CGA	p.R217R	FBXO46_uc002pcz.2_Silent_p.R217R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	217							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)														---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46290090	46290090	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46290090G>A	uc002pdj.1	-	3	710	c.664C>T	c.(664-666)CTG>TTG	p.L222L	DMWD_uc002pdk.1_Silent_p.L222L|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	222	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46331121	46331121	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46331121C>T	uc002pdn.2	-	15	2286	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	SYMPK_uc002pdo.1_Missense_Mutation_p.V681M|SYMPK_uc002pdp.1_Missense_Mutation_p.V681M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	681					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351021	46351021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46351021T>C	uc002pdn.2	-	7	910	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	SYMPK_uc002pdo.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdp.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdq.1_Missense_Mutation_p.Y222C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	222					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375928	46375928	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46375928G>A	uc002pdr.2	+	2	862	c.665G>A	c.(664-666)GGG>GAG	p.G222E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	222					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)														---	---	---	---
NANOS2	339345	broad.mit.edu	37	19	46417579	46417579	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46417579G>A	uc002pdu.2	-	1	458	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	125					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46807198	46807198	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46807198C>A	uc002peh.2	+	2	99	c.70C>A	c.(70-72)CGC>AGC	p.R24S	HIF3A_uc002pef.1_Missense_Mutation_p.R24S|HIF3A_uc002peg.3_Missense_Mutation_p.R24S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Silent_p.P3P|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Silent_p.P3P|HIF3A_uc002pel.2_Missense_Mutation_p.R22S|HIF3A_uc010xxz.1_Silent_p.P21P	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46832527	46832527	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46832527C>T	uc002peh.2	+	12	1533	c.1504C>T	c.(1504-1506)CTC>TTC	p.L502F	HIF3A_uc002peg.3_Missense_Mutation_p.L502F|HIF3A_uc002pei.3_Missense_Mutation_p.L446F|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.L446F|HIF3A_uc010xxy.1_Missense_Mutation_p.L433F|HIF3A_uc002pel.2_Missense_Mutation_p.L500F|HIF3A_uc010xxz.1_Missense_Mutation_p.L451F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914494	46914494	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46914494G>A	uc002pep.2	-	1	2426	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	525	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)														---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46996841	46996841	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46996841G>A	uc002pes.2	-	1	2329	c.1882C>T	c.(1882-1884)CGG>TGG	p.R628W	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	630										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)														---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47226079	47226079	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47226079G>A	uc002pfl.2	-	14	1927	c.1894C>T	c.(1894-1896)CGG>TGG	p.R632W	STRN4_uc002pfm.2_Missense_Mutation_p.R639W|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	632						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)														---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47280550	47280550	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47280550C>T	uc002pfs.2	-	6	1791	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T	SLC1A5_uc010xyh.1_Missense_Mutation_p.A189T|SLC1A5_uc002pfq.2_Missense_Mutation_p.A215T|SLC1A5_uc002pfr.2_Missense_Mutation_p.A163T	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	391	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)													---	---	---	---
AP2S1	1175	broad.mit.edu	37	19	47341797	47341797	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47341797C>T	uc002pft.1	-	5	516	c.336G>A	c.(334-336)ACG>ACA	p.T112T	AP2S1_uc002pfu.1_Silent_p.T74T	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	112					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---
GRLF1	2909	broad.mit.edu	37	19	47424547	47424547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47424547C>T	uc010ekv.2	+	1	2615	c.2615C>T	c.(2614-2616)GCC>GTC	p.A872V		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	872					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)														---	---	---	---
BBC3	27113	broad.mit.edu	37	19	47725161	47725161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47725161C>T	uc002pgf.3	-	4	761	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	BBC3_uc010xyl.1_Missense_Mutation_p.A195T|BBC3_uc010eky.2_Silent_p.Q98Q|BBC3_uc010ekz.2_Missense_Mutation_p.A35T	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3 isoform 4	160					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding				0		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48006736	48006736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48006736G>A	uc002pha.1	-	2	422	c.122C>T	c.(121-123)GCA>GTA	p.A41V	NAPA_uc002phb.1_Missense_Mutation_p.A41V|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Missense_Mutation_p.A41V|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Missense_Mutation_p.A41V	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	41					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48018088	48018088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48018088C>T	uc002pha.1	-						NAPA_uc002phb.1_Intron|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Intron|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Intron	NM_003827	NP_003818			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48239750	48239750	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48239750A>G	uc002phj.3	+	5	1290	c.1040A>G	c.(1039-1041)CAC>CGC	p.H347R	EHD2_uc010xyu.1_Missense_Mutation_p.H211R|EHD2_uc010xyv.1_Missense_Mutation_p.H30R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	347					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244520	48244520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48525436C>T	uc002pht.2	+	6	679	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	175					single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48624533	48624533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48624533A>G	uc002pia.1	-	24	2399	c.2279T>C	c.(2278-2280)GTG>GCG	p.V760A	LIG1_uc010xze.1_Missense_Mutation_p.V453A|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V692A|LIG1_uc010xzg.1_Missense_Mutation_p.V729A	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	760					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48626233	48626233	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48626233A>G	uc002pia.1	-	23	2310	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D	LIG1_uc010xze.1_Silent_p.D423D|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.D662D|LIG1_uc010xzg.1_Silent_p.D699D	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	730					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
SULT2B1	6820	broad.mit.edu	37	19	49100124	49100124	+	Silent	SNP	G	A	A	rs112884737		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49100124G>A	uc002pjl.2	+	6	855	c.774G>A	c.(772-774)ACG>ACA	p.T258T	SULT2B1_uc002pjm.2_Silent_p.T243T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	258					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)														---	---	---	---
IZUMO1	284359	broad.mit.edu	37	19	49247440	49247440	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49247440T>C	uc002pkj.2	-	5	958	c.410A>G	c.(409-411)AAC>AGC	p.N137S	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	137	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)														---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49310321	49310321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49310321C>T	uc002pkr.2	-	2	72	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.R12Q|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	12						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)													---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49398379	49398379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49398379C>T	uc002pkz.2	-	6	541	c.390G>A	c.(388-390)TGG>TGA	p.W130*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	130					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49478000	49478000	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49478000C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49489102	49489102	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49489102C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
RUVBL2	10856	broad.mit.edu	37	19	49514574	49514574	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49514574C>T	uc002plr.1	+						RUVBL2_uc002plq.1_Intron|RUVBL2_uc002pls.1_Intron|RUVBL2_uc010emn.1_Intron|RUVBL2_uc010yac.1_Intron	NM_006666	NP_006657			RuvB-like 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)														---	---	---	---
CD37	951	broad.mit.edu	37	19	49842077	49842077	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49842077T>A	uc002pnd.2	+	6	689	c.568T>A	c.(568-570)TCC>ACC	p.S190T	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S190T|CD37_uc010yan.1_Missense_Mutation_p.S122T|CD37_uc002pnf.3_Missense_Mutation_p.S162T|CD37_uc002pne.2_Missense_Mutation_p.S122T	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	190	Extracellular (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)														---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49862738	49862738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49862738G>A	uc002pnj.2	-	3	342	c.251C>T	c.(250-252)GCC>GTC	p.A84V	TEAD2_uc002png.2_Missense_Mutation_p.A84V|TEAD2_uc002pnh.2_Missense_Mutation_p.A84V|TEAD2_uc002pni.2_Missense_Mutation_p.A84V|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.A84V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	84	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)														---	---	---	---
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50042431A>T	uc002poj.2	+	5	1121	c.674A>T	c.(673-675)TAC>TTC	p.Y225F		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)														---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098300	50098300	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50098300A>G	uc002poo.3	+	4	708	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	22	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50213650	50213650	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50213650C>A	uc002ppj.2	+	14	1845	c.1640C>A	c.(1639-1641)CCA>CAA	p.P547Q	CPT1C_uc002ppl.3_Missense_Mutation_p.P513Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P464Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P536Q|CPT1C_uc010eng.2_Missense_Mutation_p.P547Q|CPT1C_uc010enh.2_Missense_Mutation_p.P547Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P418Q|CPT1C_uc010eni.1_Missense_Mutation_p.P204Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	547	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50358001	50358001	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50358001G>A	uc002pqf.1	+						PTOV1_uc010ybf.1_Intron|PTOV1_uc002ppz.3_Intron|PTOV1_uc002pqb.3_Intron|PTOV1_uc002pqa.2_Intron|PTOV1_uc002pqc.1_Intron|PTOV1_uc002pqd.2_Intron|PTOV1_uc002pqe.1_Intron	NM_017432	NP_059128			prostate tumor overexpressed 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)														---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50364536	50364536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50364536C>T	uc002pqh.2	-	16	1587	c.1535G>A	c.(1534-1536)GGG>GAG	p.G512E	PNKP_uc002pqg.2_Missense_Mutation_p.G293E|PNKP_uc002pqi.2_Missense_Mutation_p.G473E|PNKP_uc002pqj.2_Missense_Mutation_p.G512E|PNKP_uc010enm.2_Missense_Mutation_p.G481E|PNKP_uc002pqk.2_3'UTR	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	512					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)									Other_BER_factors					---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50747562	50747562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50747562A>G	uc002prr.1	+	10	1201	c.1154A>G	c.(1153-1155)AAC>AGC	p.N385S	MYH14_uc010enu.1_Missense_Mutation_p.N393S|MYH14_uc002prq.1_Missense_Mutation_p.N393S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	385	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50861982	50861982	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50861982G>T	uc002prx.2	-	9	1144	c.1091C>A	c.(1090-1092)CCT>CAT	p.P364H	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	364					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862307	50862307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50862307C>T	uc002prx.2	-	8	1049	c.996G>A	c.(994-996)GGG>GGA	p.G332G	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	332					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NR1H2	7376	broad.mit.edu	37	19	50881803	50881803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50881803G>A	uc010enw.2	+	6	773	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R166Q|NR1H2_uc002psa.3_Missense_Mutation_p.R69Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	166					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)														---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905974	50905974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50905974G>A	uc002psb.3	+	8	1002	c.946G>A	c.(946-948)GAT>AAT	p.D316N	POLD1_uc002psc.3_Missense_Mutation_p.D316N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D316N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	316					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50909587	50909587	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50909587C>T	uc002psb.3	+						POLD1_uc002psc.3_Intron|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Intron	NM_002691	NP_002682			DNA-directed DNA polymerase delta 1						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51022237	51022237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51022237G>A	uc002pss.2	-	3	870	c.733C>T	c.(733-735)CGC>TGC	p.R245C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	245	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51189547	51189547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51189547C>T	uc002psx.1	-	20	2543	c.2524G>A	c.(2524-2526)GGT>AGT	p.G842S	SHANK1_uc002psw.1_Missense_Mutation_p.G226S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	842					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51219729	51219729	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51219729G>A	uc002psx.1	-	2	281	c.262C>T	c.(262-264)CTT>TTT	p.L88F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	88					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51297733	51297733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51297733C>T	uc002pta.1	+	9	881	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	294	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329891	51329891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51329891C>T	uc002ptl.2	-	4	635	c.604G>A	c.(604-606)GCA>ACA	p.A202T	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A201T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	202	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)														---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51452276	51452276	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51452276C>A	uc002pue.2	-	5	649	c.431G>T	c.(430-432)GGC>GTC	p.G144V	KLK5_uc002puf.2_Missense_Mutation_p.G144V|KLK5_uc002pug.2_Missense_Mutation_p.G144V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	144	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51465041	51465041	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51465041A>C	uc002pui.2	-	6	801	c.541T>G	c.(541-543)TTG>GTG	p.L181V	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.L190V|KLK6_uc002puj.2_Missense_Mutation_p.L74V|KLK6_uc010ycn.1_Missense_Mutation_p.L74V|KLK6_uc002pul.2_Missense_Mutation_p.L181V|KLK6_uc002pum.2_Missense_Mutation_p.L74V	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	181	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)														---	---	---	---
KLK10	5655	broad.mit.edu	37	19	51518083	51518083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51518083C>T	uc002puy.2	-	6	885	c.804G>A	c.(802-804)TGG>TGA	p.W268*	KLK10_uc002puz.2_Nonsense_Mutation_p.W268*|KLK10_uc002pva.2_Nonsense_Mutation_p.W268*	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	268	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.W268C(1)		lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)														---	---	---	---
CD33	945	broad.mit.edu	37	19	51728581	51728581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51728581T>C	uc002pwa.2	+	2	185	c.145T>C	c.(145-147)TAC>CAC	p.Y49H	CD33_uc010eos.1_Missense_Mutation_p.Y49H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	49	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)													---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51857744	51857744	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51857744T>A	uc002pwh.2	-						ETFB_uc002pwg.2_Missense_Mutation_p.D50V	NM_001985	NP_001976			electron-transfer-flavoprotein, beta polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)														---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52132322	52132322	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52132322T>C	uc002pxe.2	-	4	847	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	236	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52216730	52216730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52216730C>T	uc002pxo.1	-	5	1722	c.1687G>A	c.(1687-1689)GTG>ATG	p.V563M	HAS1_uc010epc.1_Missense_Mutation_p.V163M|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.V570M|HAS1_uc002pxp.1_Missense_Mutation_p.V562M	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	563	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52219570	52219570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52219570A>C	uc002pxo.1	-	4	1035	c.1000T>G	c.(1000-1002)TGT>GGT	p.C334G	HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Missense_Mutation_p.C299G|HAS1_uc002pxn.1_Missense_Mutation_p.C341G|HAS1_uc002pxp.1_Missense_Mutation_p.C333G	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	334	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.C334Y(1)		ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52399760	52399760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52399760G>A	uc002pxy.2	-	4	471	c.203C>T	c.(202-204)ACA>ATA	p.T68I		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448122	52448122	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448122C>G	uc002pxz.1	+	6	1409	c.986C>G	c.(985-987)TCC>TGC	p.S329C	ZNF613_uc002pya.1_Missense_Mutation_p.S293C	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	329	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448840	52448840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448840T>C	uc002pxz.1	+	6	2127	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52469030	52469030	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52469030C>T	uc002pyd.2	-	5	904	c.676G>A	c.(676-678)GTA>ATA	p.V226I	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	226	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496490	52496490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52496490T>C	uc002pye.1	-	6	2131	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M	ZNF615_uc002pyf.1_Missense_Mutation_p.I624M|ZNF615_uc002pyg.1_Missense_Mutation_p.I505M|ZNF615_uc002pyh.1_Missense_Mutation_p.I624M|ZNF615_uc010epi.1_Missense_Mutation_p.I620M|ZNF615_uc010ydg.1_Missense_Mutation_p.I618M	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	613	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52520093	52520093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52520093T>C	uc002pyj.2	-	5	1160	c.758A>G	c.(757-759)AAT>AGT	p.N253S	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521298	52521298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52521298C>T	uc002pyj.2	-	4	603	c.201G>A	c.(199-201)TGG>TGA	p.W67*	ZNF614_uc002pyi.3_Nonsense_Mutation_p.W67*|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52619658A>T	uc002pym.2	-	4	1042	c.759T>A	c.(757-759)AAT>AAA	p.N253K	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)														---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52658789	52658789	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52658789G>T	uc010ydi.1	-	5	2521	c.2147C>A	c.(2146-2148)CCT>CAT	p.P716H	ZNF836_uc010ydj.1_Missense_Mutation_p.P716H	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716	C2H2-type 18; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659094	52659094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659094C>T	uc010ydi.1	-	5	2216	c.1842G>A	c.(1840-1842)GTG>GTA	p.V614V	ZNF836_uc010ydj.1_Silent_p.V614V	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	614	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659268	52659268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659268A>G	uc010ydi.1	-	5	2042	c.1668T>C	c.(1666-1668)TGT>TGC	p.C556C	ZNF836_uc010ydj.1_Silent_p.C556C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF766	90321	broad.mit.edu	37	19	52785388	52785388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52785388G>A	uc002pyr.1	+	2	86	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF766_uc002pys.1_Missense_Mutation_p.A15T|ZNF766_uc002pyt.1_Missense_Mutation_p.A30T	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)														---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52825414	52825414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52825414G>A	uc010ydl.1	+	5	981	c.911G>A	c.(910-912)CGA>CAA	p.R304Q	ZNF480_uc002pyv.2_Missense_Mutation_p.R227Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R261Q|ZNF480_uc010epn.2_Missense_Mutation_p.R135Q|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)														---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53057596	53057596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53057596T>C	uc010epq.1	+	5	1604	c.1427T>C	c.(1426-1428)ATT>ACT	p.I476T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)														---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53117122	53117122	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53117122A>C	uc002pzu.3	-	2	1940	c.696T>G	c.(694-696)CCT>CCG	p.P232P	ZNF83_uc002pzv.3_Silent_p.P232P|ZNF83_uc010eps.2_Silent_p.P232P|ZNF83_uc010ept.2_Silent_p.P232P|ZNF83_uc010epu.2_Silent_p.P232P|ZNF83_uc010epv.2_Silent_p.P232P|ZNF83_uc010epw.2_Silent_p.P232P|ZNF83_uc010epx.2_Silent_p.P232P|ZNF83_uc010epy.2_Silent_p.P232P|ZNF83_uc010epz.2_Silent_p.P232P|ZNF83_uc010eqb.1_Silent_p.P232P	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53209608	53209608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53209608T>G	uc002pzz.2	-	7	1017	c.700A>C	c.(700-702)AAT>CAT	p.N234H	ZNF611_uc010eqc.2_Missense_Mutation_p.N164H|ZNF611_uc010ydo.1_Missense_Mutation_p.N164H|ZNF611_uc010ydr.1_Missense_Mutation_p.N165H|ZNF611_uc010ydp.1_Missense_Mutation_p.N234H|ZNF611_uc010ydq.1_Missense_Mutation_p.N234H|ZNF611_uc002qaa.3_Missense_Mutation_p.N164H	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	234	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53210049	53210049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53210049T>C	uc002pzz.2	-	7	576	c.259A>G	c.(259-261)ACA>GCA	p.T87A	ZNF611_uc010eqc.2_Missense_Mutation_p.T17A|ZNF611_uc010ydo.1_Missense_Mutation_p.T17A|ZNF611_uc010ydr.1_Missense_Mutation_p.T18A|ZNF611_uc010ydp.1_Missense_Mutation_p.T87A|ZNF611_uc010ydq.1_Missense_Mutation_p.T87A|ZNF611_uc002qaa.3_Missense_Mutation_p.T17A	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270810	53270810	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53270810T>A	uc002qab.3	-	3	485	c.199A>T	c.(199-201)ACT>TCT	p.T67S		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)														---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303561	53303561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53303561G>A	uc002qad.2	-	4	1657	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	ZNF28_uc002qac.2_Missense_Mutation_p.H460Y|ZNF28_uc010eqe.2_Missense_Mutation_p.H459Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384506	53384506	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53384506A>T	uc002qag.2	-	4	1064	c.873T>A	c.(871-873)CAT>CAA	p.H291Q	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.H237Q|ZNF320_uc002qai.2_Missense_Mutation_p.H291Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	291	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)														---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572543	53572543	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53572543T>C	uc010eqk.2	-	7	1660	c.1244A>G	c.(1243-1245)CAT>CGT	p.H415R	ZNF160_uc002qaq.3_Missense_Mutation_p.H415R|ZNF160_uc002qar.3_Missense_Mutation_p.H415R	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	415	C2H2-type 6.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)														---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612488	53612488	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53612488T>C	uc002qax.2	-	7	1303	c.954A>G	c.(952-954)AAA>AAG	p.K318K	ZNF415_uc002qat.2_Silent_p.K282K|ZNF415_uc002qaw.2_Silent_p.K270K|ZNF415_uc010yds.1_Silent_p.K270K|ZNF415_uc010ydt.1_Silent_p.K270K|ZNF415_uc002qau.2_Silent_p.K257K|ZNF415_uc002qav.2_Silent_p.K282K|ZNF415_uc002qba.2_Silent_p.K40K|ZNF415_uc002qay.2_Silent_p.K257K|ZNF415_uc002qaz.2_Silent_p.K318K	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)														---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669504	53669504	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53669504C>T	uc010eqm.1	-	4	339	c.239G>A	c.(238-240)AGC>AAC	p.S80N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)														---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54139969	54139969	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54139969G>A	uc002qcf.1	+	3	354	c.303G>A	c.(301-303)CTG>CTA	p.L101L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)														---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401279	54401279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401279C>T	uc002qcq.1	+	10	1288	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	PRKCG_uc010yef.1_Silent_p.S306S|PRKCG_uc010yeg.1_Missense_Mutation_p.R336C|PRKCG_uc010yeh.1_Missense_Mutation_p.R223C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	336					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)														---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444820	54444820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)														---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54627208	54627208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54627208G>A	uc002qdh.2	+	7	1004	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PRPF31_uc010yek.1_Missense_Mutation_p.R203H	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	203	Nop.|				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
RPS9	6203	broad.mit.edu	37	19	54710226	54710226	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54710226G>A	uc002qdx.2	+	4	359	c.303G>A	c.(301-303)AAG>AAA	p.K101K	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Silent_p.K101K|RPS9_uc002qea.2_Silent_p.K101K|RPS9_uc002qeb.2_Silent_p.K101K|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Silent_p.K101K	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	101					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)														---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780709	54780709	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780709G>A	uc002qfb.2	-	10	1701	c.1435C>T	c.(1435-1437)CTC>TTC	p.L479F	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L479F|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L478F|LILRB2_uc010yet.1_Missense_Mutation_p.L363F	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54871688	54871688	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54871688A>C	uc002qfk.1	-						LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Intron|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Intron|LAIR1_uc002qfo.2_Intron	NM_002287	NP_002278			leukocyte-associated immunoglobulin-like							integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54966185	54966185	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54966185T>C	uc002qfv.1	+	6	768	c.624T>C	c.(622-624)GTT>GTC	p.V208V	LENG8_uc002qfw.2_Silent_p.V245V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	208							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969365	54969365	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969365T>C	uc002qfv.1	+	13	2019	c.1875T>C	c.(1873-1875)TTT>TTC	p.F625F	LENG8_uc002qfw.2_Silent_p.F662F			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	625							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969555	54969555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969555G>A	uc002qfv.1	+	14	2128	c.1984G>A	c.(1984-1986)GCC>ACC	p.A662T	LENG8_uc002qfw.2_Missense_Mutation_p.A699T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	662							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106363	55106363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55106363A>G	uc002qgh.1	+	4	486	c.304A>G	c.(304-306)AGC>GGC	p.S102G	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S102G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	102	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107772	55107772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55107772G>A	uc002qgh.1	+	7	1259	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	LILRA2_uc010yfg.1_Silent_p.K357K|LILRA1_uc010yfh.1_Silent_p.K359K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	359	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
KIR2DL1	3802	broad.mit.edu	37	19	55282338	55282338	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55282338T>C	uc002qhb.1	+	2	108	c.70_splice	c.e2+2	p.G24_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.G24_splice	NM_014218	NP_055033			killer cell immunoglobulin-like receptor, two						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396944	55396944	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55396944A>G	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55445028	55445028	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55445028G>T	uc002qih.3	-	8	2627	c.2551C>A	c.(2551-2553)CTG>ATG	p.L851M	NLRP7_uc002qig.3_Missense_Mutation_p.L823M|NLRP7_uc002qii.3_Missense_Mutation_p.L851M|NLRP7_uc010esk.2_Missense_Mutation_p.L851M|NLRP7_uc010esl.2_Missense_Mutation_p.L879M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	851	LRR 6.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
GP6	51206	broad.mit.edu	37	19	55525614	55525614	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55525614G>T	uc002qik.2	-	8					GP6_uc002qil.2_Missense_Mutation_p.L567I|GP6_uc010esq.2_3'UTR	NM_016363	NP_057447			glycoprotein VI (platelet) isoform 2						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---
GP6	51206	broad.mit.edu	37	19	55539169	55539169	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55539169G>A	uc002qik.2	-	4	415	c.387C>T	c.(385-387)GAC>GAT	p.D129D	GP6_uc002qil.2_Silent_p.D129D|GP6_uc010esq.2_Silent_p.D129D|RDH13_uc010esr.1_RNA	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	129	Ig-like C2-type 2.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597335	55597335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55597335A>G	uc002qis.3	+	15	1616	c.1512A>G	c.(1510-1512)GTA>GTG	p.V504V	EPS8L1_uc010ess.1_Silent_p.V518V|EPS8L1_uc010yfr.1_Silent_p.V440V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.V377V|EPS8L1_uc002qiv.2_Silent_p.V182V|EPS8L1_uc002qiw.2_Silent_p.V283V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	504	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)														---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55644293	55644293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55644293C>T	uc002qjb.3	-	14	916	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TNNT1_uc002qiz.3_Missense_Mutation_p.R190H|TNNT1_uc002qja.3_Missense_Mutation_p.R190H|TNNT1_uc002qjc.3_Missense_Mutation_p.R260H|TNNT1_uc002qje.3_Missense_Mutation_p.R249H|TNNT1_uc002qjd.3_Missense_Mutation_p.R249H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	276					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)														---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089958	56089958	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56089958C>T	uc002qlh.2	-	2	1101	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56166521	56166521	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56166521T>C	uc002qlu.2	+	1	1104	c.49_splice	c.e1+2	p.E17_splice	U2AF2_uc002qlt.2_Splice_Site_p.E17_splice	NM_007279	NP_009210			U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56203213	56203213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56203213G>A	uc002qlw.2	+	7	1198	c.856G>A	c.(856-858)GTC>ATC	p.V286I	EPN1_uc002qlv.2_Missense_Mutation_p.V261I|EPN1_uc010etd.2_Missense_Mutation_p.V286I|EPN1_uc002qlx.2_Missense_Mutation_p.V372I	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	286	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)														---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243849	56243849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243849C>A	uc002qly.2	-	2	1376	c.1348G>T	c.(1348-1350)GAG>TAG	p.E450*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	450	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56300170	56300170	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56300170T>C	uc010ygf.1	-						NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron	NM_145007	NP_659444			NLR family, pyrin domain containing 11								ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369592	56369592	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369592C>T	uc002qmd.3	+	3	1255	c.833C>T	c.(832-834)GCT>GTT	p.A278V	NLRP4_uc002qmf.2_Missense_Mutation_p.A203V|NLRP4_uc010etf.2_Missense_Mutation_p.A109V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	278	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369735	56369735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369735A>G	uc002qmd.3	+	3	1398	c.976A>G	c.(976-978)AAT>GAT	p.N326D	NLRP4_uc002qmf.2_Missense_Mutation_p.N251D|NLRP4_uc010etf.2_Missense_Mutation_p.N157D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	326	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370579	56370579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56370579A>G	uc002qmd.3	+	3	2242	c.1820A>G	c.(1819-1821)CAA>CGA	p.Q607R	NLRP4_uc002qmf.2_Missense_Mutation_p.Q532R|NLRP4_uc010etf.2_Missense_Mutation_p.Q438R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	607							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423337	56423337	+	Missense_Mutation	SNP	A	C	C	rs143168899		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423337A>C	uc010ygg.1	-	5	1871	c.1846T>G	c.(1846-1848)TTA>GTA	p.L616V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	616							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424639	56424639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424639C>T	uc010ygg.1	-	5	569	c.544G>A	c.(544-546)GAG>AAG	p.E182K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	182							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443673	56443673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443673T>C	uc010ygg.1	-	1	30	c.5A>G	c.(4-6)AAC>AGC	p.N2S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	2	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56467067	56467067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56467067G>A	uc002qmh.2	+	3	1714	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	NLRP8_uc010etg.2_Missense_Mutation_p.S548N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	548						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56515301	56515301	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56515301C>T	uc002qmj.2	+	2	282	c.282C>T	c.(280-282)TGC>TGT	p.C94C	NLRP5_uc002qmi.2_Silent_p.C94C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	94	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539246	56539246	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56539246C>T	uc002qmj.2	+	7	1647	c.1647C>T	c.(1645-1647)GAC>GAT	p.D549D	NLRP5_uc002qmi.2_Silent_p.D530D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	549	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56565026	56565026	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701494	56701494	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701494T>G	uc010ygh.1	-	4	1190	c.1190A>C	c.(1189-1191)GAC>GCC	p.D397A		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	397	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56702324	56702324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56702324G>A	uc010ygh.1	-	3	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952773	56952773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56952773T>C	uc002qnd.2	-	5	1753	c.1591A>G	c.(1591-1593)ACA>GCA	p.T531A	ZNF667_uc010etl.2_Missense_Mutation_p.T313A|ZNF667_uc002qne.2_Missense_Mutation_p.T531A|ZNF667_uc010etm.2_Missense_Mutation_p.T474A	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	531	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57036632	57036632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57036632G>A	uc002qnh.2	+	5	1329	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089759	57089759	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57089759T>C	uc002qnl.3	+	6	2638	c.1962T>C	c.(1960-1962)TGT>TGC	p.C654C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	654	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)														---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133693	57133693	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57133693C>T	uc002qnm.3	+	3	1276	c.1038C>T	c.(1036-1038)CGC>CGT	p.R346R		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	346	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)														---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175250C>T	uc010ygo.1	-	2	1383	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZNF835_uc010ygn.1_Silent_p.T439T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176405	57176405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57176405G>A	uc010ygo.1	-	2	228	c.228C>T	c.(226-228)CGC>CGT	p.R76R	ZNF835_uc010ygn.1_Silent_p.R54R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327048	57327048	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57327048T>G	uc002qnu.2	-	7	3113	c.2762A>C	c.(2761-2763)GAA>GCA	p.E921A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E892A|PEG3_uc002qnv.2_Missense_Mutation_p.E921A|PEG3_uc002qnw.2_Missense_Mutation_p.E797A|PEG3_uc002qnx.2_Missense_Mutation_p.E795A|PEG3_uc010etr.2_Missense_Mutation_p.E921A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	921					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328459	57328459	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57328459G>A	uc002qnu.2	-	7	1702	c.1351C>T	c.(1351-1353)CCA>TCA	p.P451S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P422S|PEG3_uc002qnv.2_Missense_Mutation_p.P451S|PEG3_uc002qnw.2_Missense_Mutation_p.P327S|PEG3_uc002qnx.2_Missense_Mutation_p.P325S|PEG3_uc010etr.2_Missense_Mutation_p.P451S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	451					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641113	57641113	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57641113T>C	uc002qny.2	+	4	1426	c.1070T>C	c.(1069-1071)GTC>GCC	p.V357A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57647393	57647393	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57647393G>A	uc002qnz.1	-	5	698	c.312C>T	c.(310-312)GTC>GTT	p.V104V		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57724326	57724326	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57724326A>G	uc002qob.2	+	4	2274	c.1861A>G	c.(1861-1863)ACC>GCC	p.T621A		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)														---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57839292	57839292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57839292T>C	uc002qoi.1	+	4	807	c.462T>C	c.(460-462)CGT>CGC	p.R154R		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967256	57967256	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57967256C>A	uc002qos.1	-	1	599	c.599G>T	c.(598-600)AGT>ATT	p.S200I	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	200	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)														---	---	---	---
ZNF772	400720	broad.mit.edu	37	19	57984675	57984675	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57984675G>A	uc002qot.2	-	5	1698	c.1437C>T	c.(1435-1437)CGC>CGT	p.R479R	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.R438R|ZNF772_uc010ygz.1_Silent_p.R367R|ZNF772_uc010yha.1_Silent_p.R425R|ZNF772_uc002qou.2_Silent_p.R367R	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)														---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58049755	58049755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58049755G>A	uc002qpb.1	+	4	1632	c.1383G>A	c.(1381-1383)ATG>ATA	p.M461I	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.M448I	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	461	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58196633	58196633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58196633A>G	uc002qpw.3	+	2	260	c.37A>G	c.(37-39)ATG>GTG	p.M13V	ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58264668	58264668	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58264668A>C	uc002qpx.2	+	3	393	c.170A>C	c.(169-171)TAT>TCT	p.Y57S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Y57S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)														---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58290443	58290443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58290443C>A	uc002qqd.2	+	3	674	c.488C>A	c.(487-489)TCT>TAT	p.S163Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.L121I|ZNF586_uc010euh.2_Missense_Mutation_p.S120Y|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	163	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319610	58319610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58319610A>T	uc002qqg.2	-	3	1192	c.1022T>A	c.(1021-1023)GTT>GAT	p.V341D	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.V337D	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	341	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420088	58420088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420088A>G	uc002qqq.2	-	3	1757	c.1558T>C	c.(1558-1560)TAT>CAT	p.Y520H	ZNF417_uc010yhm.1_Missense_Mutation_p.Y477H|ZNF417_uc002qqr.2_Missense_Mutation_p.Y519H	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	520	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58437734	58437734	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58437734C>T	uc002qqs.1	-	4	2107	c.1815G>A	c.(1813-1815)GCG>GCA	p.A605A	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.A520A	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	605	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58438155	58438155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58438155C>T	uc002qqs.1	-	4	1686	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G380D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	465	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453338	58453338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58453338A>T	uc002qqu.2	-	3	1073	c.838T>A	c.(838-840)TCT>ACT	p.S280T	ZNF256_uc010euj.2_Missense_Mutation_p.S127T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	280	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58490577	58490577	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58490577T>C	uc002qqw.2	-	7	2089	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ZNF606_uc010yhp.1_Missense_Mutation_p.K401E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	491	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578557	58578557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58578557G>A	uc010yhq.1	+	5	837	c.741G>A	c.(739-741)ACG>ACA	p.T247T	ZNF135_uc002qre.2_Silent_p.T235T|ZNF135_uc002qrd.1_Silent_p.T193T|ZNF135_uc002qrf.2_Silent_p.T193T|ZNF135_uc002qrg.2_Silent_p.T205T|ZNF135_uc010yhr.1_Silent_p.T56T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	247					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579384	58579384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58579384A>G	uc010yhq.1	+	5	1664	c.1568A>G	c.(1567-1569)AAA>AGA	p.K523R	ZNF135_uc002qre.2_Missense_Mutation_p.K511R|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.K469R|ZNF135_uc002qrg.2_Missense_Mutation_p.K481R|ZNF135_uc010yhr.1_Missense_Mutation_p.K332R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	523					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601478	58601478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58601478G>A	uc002qri.2	-	2	466	c.157C>T	c.(157-159)CGG>TGG	p.R53W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53W	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58640601	58640601	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58640601A>C	uc002qrn.2	-	4	507	c.270T>G	c.(268-270)GGT>GGG	p.G90G	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)														---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58773443	58773443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58773443C>A	uc010euo.2	+	7	1945	c.1471C>A	c.(1471-1473)CCC>ACC	p.P491T	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.P463T|ZNF544_uc010yhy.1_Missense_Mutation_p.P463T|ZNF544_uc002qrt.3_Missense_Mutation_p.P349T|ZNF544_uc002qru.3_Missense_Mutation_p.P349T|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58805954	58805954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58805954T>C	uc002qry.1	+	4	910	c.780T>C	c.(778-780)ACT>ACC	p.T260T	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	260	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806852	58806852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58806852G>T	uc002qry.1	+	4	1808	c.1678G>T	c.(1678-1680)GAG>TAG	p.E560*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58906110	58906110	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58906110A>G	uc002qsn.2	+	6	680	c.608A>G	c.(607-609)AAC>AGC	p.N203S	RPS5_uc002qso.2_Missense_Mutation_p.N203S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	203					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)														---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58928251	58928251	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58928251G>T	uc002qsp.2	+	4	818	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q77H|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)														---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58946066	58946066	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58946066A>G	uc002qst.3	-	3	1146	c.745T>C	c.(745-747)TCC>CCC	p.S249P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	249	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)														---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58982486	58982486	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58982486C>T	uc002qsw.1	+	4	721	c.627C>T	c.(625-627)AGC>AGT	p.S209S	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58988885	58988885	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58988885A>G	uc002qsz.2	+	2	417	c.300A>G	c.(298-300)CTA>CTG	p.L100L	ZNF446_uc002qta.2_Silent_p.L100L|ZNF446_uc010eur.2_Silent_p.L100L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061206	59061206	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59061206G>T	uc002qtg.1	+	14	2374	c.2085G>T	c.(2083-2085)AAG>AAT	p.K695N	TRIM28_uc010eut.1_Missense_Mutation_p.K613N|TRIM28_uc002qth.1_Missense_Mutation_p.K310N	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	695					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)														---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	372148	372148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:372148T>C	uc002wdm.2	+	3	1015	c.509T>C	c.(508-510)CTG>CCG	p.L170P	TRIB3_uc002wdn.2_Missense_Mutation_p.L197P	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	170	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)														---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	472932	472932	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:472932T>C	uc002wdw.1	-	9	980	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	CSNK2A1_uc002wdx.1_Missense_Mutation_p.Y196C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.Y60C	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	196	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)															---	---	---	---
C20orf46	55321	broad.mit.edu	37	20	1161600	1161600	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1161600G>A	uc010gaa.1	-	3	882	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C20orf46_uc002weq.1_Silent_p.G221G	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	221						integral to membrane	protein binding			ovary(1)	1																		---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281356	1281356	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1281356G>A	uc002wes.2	+	5	544	c.308_splice	c.e5+1	p.R103_splice	SNPH_uc002wet.2_Splice_Site_p.R147_splice	NM_014723	NP_055538			syntaphilin						synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902223	1902223	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1902223T>A	uc002wfq.2	+	4	979	c.619T>A	c.(619-621)TAC>AAC	p.Y207N	SIRPA_uc010zps.1_Missense_Mutation_p.Y187N|SIRPA_uc002wfr.2_Missense_Mutation_p.Y207N|SIRPA_uc002wfs.2_Missense_Mutation_p.Y207N|SIRPA_uc002wft.2_Missense_Mutation_p.Y207N	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	207	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918072	1918072	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918072C>G	uc002wfq.2	+	9	1733	c.1373C>G	c.(1372-1374)ACC>AGC	p.T458S	SIRPA_uc010zps.1_Missense_Mutation_p.T438S|SIRPA_uc002wfr.2_Missense_Mutation_p.T458S|SIRPA_uc002wfs.2_Missense_Mutation_p.T458S|SIRPA_uc002wft.2_Missense_Mutation_p.T462S	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	458	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918165	1918165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918165C>T	uc002wfq.2	+	9	1826	c.1466C>T	c.(1465-1467)CCT>CTT	p.P489L	SIRPA_uc010zps.1_Missense_Mutation_p.P469L|SIRPA_uc002wfr.2_Missense_Mutation_p.P489L|SIRPA_uc002wfs.2_Missense_Mutation_p.P489L|SIRPA_uc002wft.2_Missense_Mutation_p.P493L	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	489	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
STK35	140901	broad.mit.edu	37	20	2097903	2097903	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2097903G>A	uc010gak.2	+	3	1484	c.1484G>A	c.(1483-1485)AGG>AAG	p.R495K	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R362K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	495	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2291695	2291695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2291695G>A	uc002wfx.3	+	4	557	c.460G>A	c.(460-462)GAG>AAG	p.E154K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	154					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)													---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2411625	2411625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2411625C>T	uc002wfy.1	+	12	1980	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)													---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2446470	2446470	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2446470A>G	uc002wfz.1	-						SNRPB_uc002wga.1_Intron|SNRPB_uc010zpv.1_Intron|SNRPB_uc002wgb.2_Intron|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859			small nuclear ribonucleoprotein polypeptide B/B'						histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2636755	2636755	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2636755G>T	uc002wgh.2	+						NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD86_uc010gaq.1_RNA|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2637611	2637611	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2637611A>T	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD57_uc002wgo.1_RNA	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774916	2774916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2774916G>A	uc002wgu.2	-	14	2189	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	CPXM1_uc010gas.2_Missense_Mutation_p.R635C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	709					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
FAM113A	64773	broad.mit.edu	37	20	2819100	2819100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2819100G>A	uc002wgz.1	-	6	1116	c.619C>T	c.(619-621)CGG>TGG	p.R207W	FAM113A_uc002whb.1_Missense_Mutation_p.R58W|FAM113A_uc002wha.1_Missense_Mutation_p.R58W|FAM113A_uc010zqa.1_Missense_Mutation_p.R54W|FAM113A_uc002whc.1_Missense_Mutation_p.R156W|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	207							hydrolase activity|protein binding			ovary(2)	2																		---	---	---	---
PTPRA	5786	broad.mit.edu	37	20	2968692	2968692	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2968692A>G	uc010zqb.1	+	6					PTPRA_uc002whj.2_Missense_Mutation_p.K181R|PTPRA_uc010zqc.1_Missense_Mutation_p.K66R|PTPRA_uc002whk.2_Missense_Mutation_p.K172R|PTPRA_uc010zqd.1_Missense_Mutation_p.K192R|PTPRA_uc002whl.2_Missense_Mutation_p.K172R|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.K172R|PTPRA_uc002who.2_5'UTR					SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3127942	3127942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3127942A>G	uc002whz.2	-	2	2086	c.1775T>C	c.(1774-1776)GTC>GCC	p.V592A	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	592					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0																		---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3262381	3262381	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3262381G>A	uc002wii.2	-	28	2569	c.2518C>T	c.(2518-2520)CTG>TTG	p.L840L	C20orf194_uc002wij.3_Silent_p.L579L|C20orf194_uc002wik.2_Silent_p.L514L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	840											0																		---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3672089	3672089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3672089C>T	uc002wja.2	-	17	4489	c.4489G>A	c.(4489-4491)GCC>ACC	p.A1497T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A136T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1497T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1497	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10																		---	---	---	---
MAVS	57506	broad.mit.edu	37	20	3845392	3845392	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3845392T>C	uc002wjw.3	+	6	1284	c.1115T>C	c.(1114-1116)GTG>GCG	p.V372A	MAVS_uc002wjx.3_Missense_Mutation_p.V231A|MAVS_uc002wjy.3_Missense_Mutation_p.V70A	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	372	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3888740	3888740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3888740G>A	uc002wkc.2	+	2	802	c.796G>A	c.(796-798)GTG>ATG	p.V266M	PANK2_uc002wkb.2_Translation_Start_Site|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Translation_Start_Site|PANK2_uc002wkf.2_Translation_Start_Site	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	266					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3899434	3899434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3899434G>A	uc002wkc.2	+	6	1659	c.1653G>A	c.(1651-1653)TCG>TCA	p.S551S	PANK2_uc002wkb.2_Silent_p.S260S|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.S260S|PANK2_uc002wkf.2_Silent_p.S115S|MIR103-2AS_hsa-mir-103-2-as|MI0007262_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	551					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680403	4680403	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680403C>T	uc002wku.2	+	2	900	c.537C>T	c.(535-537)TGC>TGT	p.C179C	PRNP_uc002wkv.2_Silent_p.C179C|PRNP_uc002wkw.2_Silent_p.C179C|PRNP_uc002wkx.2_Silent_p.C179C|PRNP_uc002wkt.1_Silent_p.C149C|PRNP_uc002wky.2_Silent_p.C179C|PRNP_uc010gbe.1_Silent_p.C179C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	179	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680596	4680596	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680596A>T	uc002wku.2	+	2	1093	c.730A>T	c.(730-732)ATC>TTC	p.I244F	PRNP_uc002wkv.2_Missense_Mutation_p.I244F|PRNP_uc002wkw.2_Missense_Mutation_p.I244F|PRNP_uc002wkx.2_Missense_Mutation_p.I244F|PRNP_uc002wkt.1_Missense_Mutation_p.I214F|PRNP_uc002wky.2_Missense_Mutation_p.I244F|PRNP_uc010gbe.1_Intron	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	244					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRND	23627	broad.mit.edu	37	20	4705292	4705292	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4705292G>T	uc002wkz.2	+	2	166	c.95G>T	c.(94-96)AGA>ATA	p.R32I		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	32	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0																		---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4854619	4854619	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4854619C>T	uc002wlg.1	-	11	1440	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	SLC23A2_uc010zqr.1_Silent_p.V240V|SLC23A2_uc002wlh.1_Silent_p.V355V|SLC23A2_uc002wli.2_Silent_p.V354V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	355					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5897496	5897496	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5897496C>A	uc002wmg.2	+	3	427	c.121C>A	c.(121-123)CTC>ATC	p.L41I	CHGB_uc010zqz.1_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	41						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5933145	5933145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5933145A>G	uc002wmi.2	+	3	601	c.224A>G	c.(223-225)TAT>TGT	p.Y75C	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.Y75C|MCM8_uc002wmk.2_Missense_Mutation_p.Y75C|MCM8_uc002wml.2_Missense_Mutation_p.Y75C|MCM8_uc010gbp.2_Missense_Mutation_p.Y75C	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5948575	5948575	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5948575G>T	uc002wmi.2	+	10	1504	c.1127G>T	c.(1126-1128)GGG>GTG	p.G376V	MCM8_uc002wmj.2_Missense_Mutation_p.G360V|MCM8_uc002wmk.2_Missense_Mutation_p.G376V|MCM8_uc002wml.2_Missense_Mutation_p.G376V|MCM8_uc010gbp.2_Missense_Mutation_p.G376V|MCM8_uc002wmm.2_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	376					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866431	7866431	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7866431A>G	uc002wmw.1	-	6	918	c.894T>C	c.(892-894)ACT>ACC	p.T298T	HAO1_uc010gbu.2_Silent_p.T298T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	298	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8703028	8703028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8703028A>G	uc002wnb.2	+	15	1544	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	PLCB1_uc010zrb.1_Missense_Mutation_p.D413G|PLCB1_uc002wna.2_Missense_Mutation_p.D514G|PLCB1_uc002wnc.1_Missense_Mutation_p.D413G|PLCB1_uc002wnd.1_Missense_Mutation_p.D91G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	514					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546626	9546626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)															---	---	---	---
ANKRD5	63926	broad.mit.edu	37	20	10019012	10019012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10019012G>A	uc002wno.2	+	3	456	c.63G>A	c.(61-63)CGG>CGA	p.R21R	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.R21R|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	21							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393240	10393240	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393240T>C	uc002wnt.1	-	3	1810	c.923A>G	c.(922-924)CAT>CGT	p.H308R	MKKS_uc002wnu.1_Missense_Mutation_p.H308R|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	308	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393443	10393443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393443C>A	uc002wnt.1	-	3	1607	c.720G>T	c.(718-720)AAG>AAT	p.K240N	MKKS_uc002wnu.1_Missense_Mutation_p.K240N|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	240	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
C20orf94	128710	broad.mit.edu	37	20	10541418	10541418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10541418A>G	uc010zre.1	+	4	368	c.188A>G	c.(187-189)CAC>CGC	p.H63R		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	63							protein binding				0																		---	---	---	---
JAG1	182	broad.mit.edu	37	20	10621534	10621534	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10621534A>G	uc002wnw.2	-	25	3612	c.3096T>C	c.(3094-3096)ACT>ACC	p.T1032T		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1032	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9														Alagille_Syndrome				---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13098372	13098372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13098372G>A	uc002wod.1	+	8	1441	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260305	13260305	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13260305C>A	uc010gce.1	+	3	409	c.403C>A	c.(403-405)CCT>ACT	p.P135T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	135						extracellular region					0																		---	---	---	---
C20orf7	79133	broad.mit.edu	37	20	13769302	13769302	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13769302T>C	uc002wom.2	+						C20orf7_uc002wol.1_Intron|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_Intron	NM_024120	NP_077025			hypothetical protein LOC79133 isoform 1						mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)																---	---	---	---
OTOR	56914	broad.mit.edu	37	20	16729574	16729574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16729574G>A	uc002wpj.2	+	2	222	c.178G>A	c.(178-180)GTT>ATT	p.V60I	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	60	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17930823	17930823	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17930823T>C	uc002wqc.2	-	8	830	c.744A>G	c.(742-744)GCA>GCG	p.A248A	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.A248A|SNX5_uc002wqe.2_Silent_p.A143A|SNX5_uc010zrt.1_Silent_p.A248A	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---
C20orf72	92667	broad.mit.edu	37	20	17970645	17970645	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17970645G>A	uc002wqh.2	+	5	1010	c.928G>A	c.(928-930)GAT>AAT	p.D310N	C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	310											0																		---	---	---	---
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18005394C>T	uc002wqi.1	-	4	957	c.714G>A	c.(712-714)CCG>CCA	p.P238P		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18163876	18163876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18163876T>C	uc002wqj.2	+	9	2540	c.1918T>C	c.(1918-1920)TAC>CAC	p.Y640H	CSRP2BP_uc002wqk.2_Missense_Mutation_p.Y512H|CSRP2BP_uc010zru.1_Missense_Mutation_p.Y511H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	640	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18523773	18523773	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18523773G>T	uc002wqz.1	+	14	2065	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V	SEC23B_uc002wra.1_Missense_Mutation_p.G541V|SEC23B_uc002wrb.1_Missense_Mutation_p.G541V|SEC23B_uc010zsb.1_Missense_Mutation_p.G523V|SEC23B_uc002wrc.1_Missense_Mutation_p.G541V	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	541					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19956264	19956264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19956264T>C	uc002wro.1	+	7	1631	c.1595T>C	c.(1594-1596)TTA>TCA	p.L532S	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.L326S	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	532					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19981487	19981487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19981487G>A	uc002wro.1	+	11	2631	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	RIN2_uc010gcu.1_Silent_p.Q432Q|RIN2_uc010gcv.1_Silent_p.Q659Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	865	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20020360	20020360	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20020360T>C	uc002wrs.2	-	12	1953	c.1921A>G	c.(1921-1923)ACC>GCC	p.T641A		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	641	HAT 12.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20029028	20029028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20029028C>T	uc002wrs.2	-	5	929	c.897G>A	c.(895-897)TGG>TGA	p.W299*	CRNKL1_uc002wrt.1_Nonsense_Mutation_p.W287*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	299	HAT 3.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20258096	20258096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20258096G>T	uc002wru.2	+	22	2866	c.2790G>T	c.(2788-2790)CAG>CAT	p.Q930H	C20orf26_uc010zse.1_Missense_Mutation_p.Q910H|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	930										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20392719	20392719	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20392719C>T	uc002wrz.2	-	38	5712	c.5569G>A	c.(5569-5571)GCA>ACA	p.A1857T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1561T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1305T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1857					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20493484	20493484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20493484G>A	uc002wrz.2	-	32	4672	c.4529C>T	c.(4528-4530)TCT>TTT	p.S1510F	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1214F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S958F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S282F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1510					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20501735	20501735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20501735A>G	uc002wrz.2	-	31	4053	c.3910T>C	c.(3910-3912)TGC>CGC	p.C1304R	RALGAPA2_uc010gcx.2_Missense_Mutation_p.C1008R|RALGAPA2_uc010zsg.1_Missense_Mutation_p.C752R|RALGAPA2_uc002wsa.1_Missense_Mutation_p.C76R	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1304					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21314803	21314803	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21314803A>T	uc002wsf.1	+	13	1308	c.1213A>T	c.(1213-1215)AAA>TAA	p.K405*	XRN2_uc002wsg.1_Nonsense_Mutation_p.K329*|XRN2_uc010zsk.1_Nonsense_Mutation_p.K351*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	405					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21367535	21367535	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21367535G>T	uc002wsf.1	+	29	2773	c.2678G>T	c.(2677-2679)TGG>TTG	p.W893L	XRN2_uc002wsg.1_Missense_Mutation_p.W817L|XRN2_uc010zsk.1_Missense_Mutation_p.W839L|XRN2_uc002wsh.1_Missense_Mutation_p.W31L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	893					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21494135	21494135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21494135C>T	uc002wsi.2	-	1	530	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	58					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2																		---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687524	21687524	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687524G>A	uc002wsj.2	+	2	789	c.735G>A	c.(733-735)ACG>ACA	p.T245T	PAX1_uc010zsl.1_Silent_p.T245T|PAX1_uc010zsm.1_Silent_p.T221T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	245					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---
FOXA2	3170	broad.mit.edu	37	20	22563705	22563705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:22563705T>C	uc002wsn.2	-	3	347	c.157A>G	c.(157-159)AGC>GGC	p.S53G	FOXA2_uc002wsm.2_Missense_Mutation_p.S59G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	53	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)																	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016554	23016554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23016554A>G	uc002wsr.2	+	1	498	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	145	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)																	---	---	---	---
THBD	7056	broad.mit.edu	37	20	23028480	23028480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)													---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23346229	23346229	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23346229C>T	uc010gdb.2	+	3	1383	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G	GZF1_uc002wsy.2_Silent_p.G403G|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.G403G	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	403					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)																	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23473618	23473618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23473618T>C	uc002wth.1	+	3	612	c.255T>C	c.(253-255)CTT>CTC	p.L85L		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)																	---	---	---	---
CST7	8530	broad.mit.edu	37	20	24930101	24930101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24930101G>A	uc002wtx.1	+	1	236	c.26G>A	c.(25-27)GGC>GAC	p.G9D		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25259027	25259027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25259027C>T	uc002wup.2	+	8	1037	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	310					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
ABHD12	26090	broad.mit.edu	37	20	25319884	25319884	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25319884T>C	uc002wus.1	-	2	433	c.295A>G	c.(295-297)AAA>GAA	p.K99E	ABHD12_uc002wuq.2_Missense_Mutation_p.K99E|ABHD12_uc002wur.2_Missense_Mutation_p.K99E|ABHD12_uc002wut.1_Missense_Mutation_p.K99E|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	99	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1																		---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25405924	25405924	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25405924T>C	uc002wuv.1	+	5	542	c.408T>C	c.(406-408)ATT>ATC	p.I136I	GINS1_uc010zte.1_RNA	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	136					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
NINL	22981	broad.mit.edu	37	20	25456724	25456724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25456724A>G	uc002wux.1	-	17	3277	c.3203T>C	c.(3202-3204)GTC>GCC	p.V1068A	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1068	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
HM13	81502	broad.mit.edu	37	20	30115329	30115329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30115329G>A	uc002wwe.2	+	2	340	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HM13_uc002wwc.2_Missense_Mutation_p.A76T|HM13_uc002wwd.2_Missense_Mutation_p.A76T|HM13_uc002wwb.1_Missense_Mutation_p.A76T	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	76	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231252	30231252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231252G>A	uc002wwj.1	+	4	368	c.293G>A	c.(292-294)CGC>CAC	p.R98H	COX4I2_uc002wwi.2_Missense_Mutation_p.R98H	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	98					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231301	30231301	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231301A>T	uc002wwj.1	+	4	417	c.342A>T	c.(340-342)GGA>GGT	p.G114G	COX4I2_uc002wwi.2_Silent_p.G114G	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	114					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30486365	30486365	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30486365A>C	uc010gdx.1	+	4	456	c.203A>C	c.(202-204)AAG>ACG	p.K68T	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.E77D|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	68	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30556122	30556122	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30556122G>A	uc002wxe.2	+	1	318	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	48						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584555	30584555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30584555A>G	uc002wxe.2	+	3	1209	c.1035A>G	c.(1033-1035)CAA>CAG	p.Q345Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	345						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30585102	30585102	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30585102C>T	uc002wxe.2	+	3	1756	c.1582C>T	c.(1582-1584)CCT>TCT	p.P528S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	528						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
C20orf160	140706	broad.mit.edu	37	20	30610484	30610484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4																		---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024914	31024914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31024914C>A	uc002wxs.2	+	12	4825	c.4399C>A	c.(4399-4401)CTT>ATT	p.L1467I	ASXL1_uc010geb.2_Missense_Mutation_p.L1358I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
C20orf112	140688	broad.mit.edu	37	20	31041214	31041214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31041214T>C	uc002wxu.3	-	5	815	c.658A>G	c.(658-660)ATC>GTC	p.I220V	C20orf112_uc010gec.2_Missense_Mutation_p.I45V	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	220											0																		---	---	---	---
C20orf186	149954	broad.mit.edu	37	20	31676772	31676772	+	Silent	SNP	G	A	A	rs149304342		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31676772G>A	uc010zue.1	+	6	942	c.927G>A	c.(925-927)GGG>GGA	p.G309G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	309						cytoplasm|extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825664	31825664	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825664A>G	uc002wyv.2	+	2	217	c.147A>G	c.(145-147)GGA>GGG	p.G49G	PLUNC_uc002wyt.3_Silent_p.G49G|PLUNC_uc002wyu.3_Silent_p.G49G	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	49					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825986	31825986	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825986A>G	uc002wyv.2	+	3	356	c.286A>G	c.(286-288)ACG>GCG	p.T96A	PLUNC_uc002wyt.3_Missense_Mutation_p.T96A|PLUNC_uc002wyu.3_Missense_Mutation_p.T96A	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	96					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31982904	31982904	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31982904C>T	uc010gek.2	-	3	447	c.323G>A	c.(322-324)GGC>GAC	p.G108D	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.G18D|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wza.2_Missense_Mutation_p.G108D|CDK5RAP1_uc010gel.2_Missense_Mutation_p.G17D|CDK5RAP1_uc010gem.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.G108D|CDK5RAP1_uc010gen.2_Missense_Mutation_p.G108D	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	108	MTTase N-terminal.|CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32258498	32258498	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32258498A>G	uc002wzn.3	-	3	361	c.255T>C	c.(253-255)CAT>CAC	p.H85H	NECAB3_uc002wzm.3_Silent_p.H85H|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.H36H|NECAB3_uc002wzq.3_Silent_p.H85H|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.H85H	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	85					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1																		---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32267551	32267551	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32267551C>T	uc002wzu.3	-							NM_005225	NP_005216			E2F transcription factor 1						apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
RALY	22913	broad.mit.edu	37	20	32660018	32660018	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32660018C>A	uc002xab.2	+	3	436	c.138C>A	c.(136-138)GGC>GGA	p.G46G	RALY_uc010zui.1_Silent_p.G46G|RALY_uc002xac.2_Silent_p.G46G|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.G46G	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	46	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
ASIP	434	broad.mit.edu	37	20	32848253	32848253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32848253C>T	uc002xah.1	+	1	83	c.73C>T	c.(73-75)CCA>TCA	p.P25S		NM_001672	NP_001663	P42127	ASIP_HUMAN	agouti signaling protein precursor	25					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)	1																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33026406	33026406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33026406C>T	uc010geu.1	+	9	964	c.772C>T	c.(772-774)CGA>TGA	p.R258*	ITCH_uc002xak.2_Nonsense_Mutation_p.R217*|ITCH_uc010zuj.1_Nonsense_Mutation_p.R107*	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	258	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33077191	33077191	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33077191G>C	uc010geu.1	+	22	2529	c.2337G>C	c.(2335-2337)GAG>GAC	p.E779D	ITCH_uc002xak.2_Missense_Mutation_p.E738D|ITCH_uc010zuj.1_Missense_Mutation_p.E628D	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	779	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33328893	33328893	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33328893C>G	uc002xav.2	-	12	7738	c.5167G>C	c.(5167-5169)GCT>CCT	p.A1723P	NCOA6_uc002xaw.2_Missense_Mutation_p.A1723P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1723	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7																		---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33509131	33509131	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33509131A>G	uc002xbd.2	+	11	1399	c.1278_splice	c.e11-2	p.K426_splice	ACSS2_uc002xbc.2_Splice_Site_p.K331_splice|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Splice_Site_p.K439_splice|ACSS2_uc002xbe.2_Splice_Site_p.K134_splice|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147			acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33514025	33514025	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33514025T>A	uc002xbd.2	+	16	1965	c.1844T>A	c.(1843-1845)GTC>GAC	p.V615D	ACSS2_uc002xbc.2_Missense_Mutation_p.V520D|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.V628D|ACSS2_uc002xbe.2_Missense_Mutation_p.V323D|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	615				V -> F (in Ref. 3; AAH12172).	ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
GSS	2937	broad.mit.edu	37	20	33517328	33517328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33517328C>T	uc002xbg.2	-	12	1257	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	GSS_uc010zun.1_Missense_Mutation_p.A265T|GSS_uc010zuo.1_Missense_Mutation_p.A282T|GSS_uc010zup.1_Missense_Mutation_p.A324T|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.A123T	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	393					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)													---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33581008	33581008	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33581008T>C	uc002xbi.1	+	23	2505	c.2413T>C	c.(2413-2415)TAC>CAC	p.Y805H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	763	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33582006	33582006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33582006G>A	uc002xbi.1	+	25	2720	c.2628G>A	c.(2626-2628)TGG>TGA	p.W876*		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	834						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33600808	33600808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33600808T>C	uc002xbk.2	-						TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Intron|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Intron	NM_015638	NP_056453			TRPC4-associated protein isoform a						protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
EDEM2	55741	broad.mit.edu	37	20	33706412	33706412	+	Missense_Mutation	SNP	C	T	T	rs142171544		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33706412C>T	uc002xbo.2	-	10	1325	c.1225G>A	c.(1225-1227)GGA>AGA	p.G409R	EDEM2_uc010zuv.1_Missense_Mutation_p.G368R|EDEM2_uc010zus.1_Missense_Mutation_p.G188R|EDEM2_uc002xbq.2_Missense_Mutation_p.G372R|EDEM2_uc010zut.1_Missense_Mutation_p.G368R|EDEM2_uc002xbp.2_Missense_Mutation_p.G257R|EDEM2_uc002xbn.2_Missense_Mutation_p.G257R|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.G133R	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	409					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33879869	33879869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33879869T>C	uc010zux.1	-	1	357	c.239A>G	c.(238-240)TAC>TGC	p.Y80C	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	80										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
UQCC	55245	broad.mit.edu	37	20	33981905	33981905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33981905C>T	uc002xcd.2	-	2	186	c.119G>A	c.(118-120)CGC>CAC	p.R40H	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Missense_Mutation_p.R40H|UQCC_uc002xce.2_Missense_Mutation_p.R40H|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.R40H|UQCC_uc010zvb.1_Missense_Mutation_p.R40H|UQCC_uc002xcf.2_Silent_p.S20S|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_5'UTR|UQCC_uc010gfd.1_Silent_p.S20S	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	40						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34022040	34022040	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34022040T>C	uc010gfc.1	-	2	1414	c.1173A>G	c.(1171-1173)CGA>CGG	p.R391R	uc002xcj.2_Missense_Mutation_p.S151P|GDF5_uc002xck.1_Silent_p.R391R|GDF5_uc010zvc.1_Silent_p.R391R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	391					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)															---	---	---	---
ERGIC3	51614	broad.mit.edu	37	20	34143804	34143804	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34143804A>T	uc002xct.2	+	9	787	c.718A>T	c.(718-720)ATC>TTC	p.I240F	ERGIC3_uc010zvg.1_Missense_Mutation_p.I240F|ERGIC3_uc002xcs.2_Missense_Mutation_p.I245F|ERGIC3_uc002xcu.2_Missense_Mutation_p.I255F|ERGIC3_uc002xcv.2_Missense_Mutation_p.I203F	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	240	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)															---	---	---	---
CPNE1	8904	broad.mit.edu	37	20	34220721	34220721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34220721G>A	uc002xdf.2	-	4	488	c.125C>T	c.(124-126)GCT>GTT	p.A42V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.A47V|CPNE1_uc002xde.2_Missense_Mutation_p.A42V|CPNE1_uc002xdg.2_Missense_Mutation_p.A42V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A42V|CPNE1_uc002xdi.2_Missense_Mutation_p.A42V|CPNE1_uc002xdj.2_Missense_Mutation_p.A42V|CPNE1_uc002xdk.2_Missense_Mutation_p.A42V|CPNE1_uc002xdl.2_Missense_Mutation_p.A42V|CPNE1_uc002xdm.2_Missense_Mutation_p.A42V|CPNE1_uc010gfk.1_Missense_Mutation_p.A42V|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	42	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34241387	34241387	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34241387T>C	uc002xdq.2	-	3	2090	c.1858A>G	c.(1858-1860)ACC>GCC	p.T620A	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.T620A|RBM12_uc002xds.2_Missense_Mutation_p.T620A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	620						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34242789	34242789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34242789T>C	uc002xdq.2	-	3	688	c.456A>G	c.(454-456)ACA>ACG	p.T152T	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.T152T|RBM12_uc002xds.2_Silent_p.T152T	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	152						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35071143	35071143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35071143C>T	uc002xff.2	+	6	1805	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A457V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	457					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35125394	35125394	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35125394A>G	uc002xff.2	+	8	2370	c.1935A>G	c.(1933-1935)GAA>GAG	p.E645E	DLGAP4_uc010zvp.1_Silent_p.E645E|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Silent_p.E106E|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	645					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
C20orf24	55969	broad.mit.edu	37	20	35240458	35240458	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35240458T>C	uc002xfq.2	+	4					C20orf24_uc002xfo.2_3'UTR|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Silent_p.G88G|C20orf24_uc002xfs.2_3'UTR	NM_018840	NP_061328			RAB5-interacting protein isoform a								protein binding				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35293440	35293440	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35293440C>T	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
VSTM2L	128434	broad.mit.edu	37	20	36572479	36572479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36572479T>C	uc002xhk.3	+	4	693	c.439T>C	c.(439-441)TTC>CTC	p.F147L		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	147	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---
KIAA0406	9675	broad.mit.edu	37	20	36641206	36641206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36641206C>T	uc002xhl.2	-	3	1222	c.1013G>A	c.(1012-1014)GGA>GAA	p.G338E	KIAA0406_uc002xhm.2_Missense_Mutation_p.G338E	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
TGM2	7052	broad.mit.edu	37	20	36767989	36767989	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36767989A>G	uc002xhr.2	-	9	1267	c.1167T>C	c.(1165-1167)GAT>GAC	p.D389D	TGM2_uc010zvx.1_Silent_p.D308D|TGM2_uc010zvy.1_Silent_p.D329D|TGM2_uc002xhs.1_Silent_p.D365D|TGM2_uc002xht.2_Silent_p.D389D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)													---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36869061	36869061	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36869061A>T	uc002xhy.1	-	3	1744	c.1472T>A	c.(1471-1473)CTC>CAC	p.L491H	KIAA1755_uc002xhz.1_Missense_Mutation_p.L491H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	491										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356555	37356555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356555A>G	uc002xjc.2	+	2	1114	c.851A>G	c.(850-852)TAC>TGC	p.Y284C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	284	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356973	37356973	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356973C>T	uc002xjc.2	+	2	1532	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	423	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39690105	39690105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39690105C>T	uc002xjl.2	+	3	376	c.130C>T	c.(130-132)CGG>TGG	p.R44W	TOP1_uc010gge.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	44	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39744080	39744080	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39744080G>A	uc002xjl.2	+	16	1953	c.1707_splice	c.e16+1	p.N569_splice	uc002xjn.1_Intron	NM_003286	NP_003277			DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39792036	39792036	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39792036C>T	uc002xjp.1	+	9	929	c.808C>T	c.(808-810)CGC>TGC	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	270					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798806	39798806	+	Missense_Mutation	SNP	C	T	T	rs140033921		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39798806C>T	uc002xjp.1	+	24	2826	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	PLCG1_uc002xjo.1_Missense_Mutation_p.A902V|PLCG1_uc010zwe.1_Missense_Mutation_p.A528V|PLCG1_uc010ggf.2_Missense_Mutation_p.A226V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	902	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39831411	39831411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39831411T>A	uc002xjs.1	-	3	2524	c.2146A>T	c.(2146-2148)ATC>TTC	p.I716F	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.I716F|ZHX3_uc002xjt.1_Missense_Mutation_p.I716F|ZHX3_uc002xju.1_Missense_Mutation_p.I716F|ZHX3_uc002xjv.1_Missense_Mutation_p.I716F|ZHX3_uc002xjw.1_Missense_Mutation_p.I716F|ZHX3_uc010ggg.1_Missense_Mutation_p.I716F	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	716					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832356	39832356	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39832356T>C	uc002xjs.1	-	3	1579	c.1201A>G	c.(1201-1203)AAT>GAT	p.N401D	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N401D|ZHX3_uc002xjt.1_Missense_Mutation_p.N401D|ZHX3_uc002xju.1_Missense_Mutation_p.N401D|ZHX3_uc002xjv.1_Missense_Mutation_p.N401D|ZHX3_uc002xjw.1_Missense_Mutation_p.N401D|ZHX3_uc010ggg.1_Missense_Mutation_p.N401D	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	401	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39987087	39987087	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39987087T>C	uc002xjx.2	+	19	2407	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	LPIN3_uc010ggh.2_Silent_p.F773F|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	772	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049561	40049561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40049561T>C	uc002xka.1	-	31	5892	c.5714A>G	c.(5713-5715)AAC>AGC	p.N1905S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1905					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40085990	40085990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40085990G>A	uc002xka.1	-	18	2921	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	CHD6_uc002xkd.2_Missense_Mutation_p.R893C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	915	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713431	40713431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40713431A>T	uc002xkg.2	-	29	4211	c.4027T>A	c.(4027-4029)TAC>AAC	p.Y1343N	PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362N|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1343	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864873	40864873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40864873A>G	uc002xkg.2	-	15	2522	c.2338T>C	c.(2338-2340)TAC>CAC	p.Y780H	PTPRT_uc010ggj.2_Missense_Mutation_p.Y799H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	780	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
L3MBTL	26013	broad.mit.edu	37	20	42159069	42159069	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42159069A>G	uc010zwh.1	+						L3MBTL_uc002xkl.2_Intron|L3MBTL_uc002xkm.2_Intron|L3MBTL_uc010ggl.2_Intron|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293			l(3)mbt-like isoform I						chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42232531	42232531	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42232531T>C	uc002xkw.2	+	4	459	c.337_splice	c.e4+2	p.D113_splice	IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Splice_Site_p.D113_splice|IFT52_uc002xkx.2_Splice_Site|IFT52_uc010ggn.2_Splice_Site_p.D113_splice|IFT52_uc002xkz.2_Splice_Site_p.D113_splice	NM_016004	NP_057088			intraflagellar transport 52 homolog							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42265849	42265849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42265849C>T	uc002xkw.2	+	12	1198	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	IFT52_uc002xky.2_Missense_Mutation_p.T359M|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.T335M|IFT52_uc002xkz.2_Missense_Mutation_p.T359M	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42744457	42744457	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42744457C>T	uc002xli.1	-	4	2731	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	620	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
YWHAB	7529	broad.mit.edu	37	20	43530375	43530375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43530375T>C	uc002xmt.2	+	3	483	c.201T>C	c.(199-201)ATT>ATC	p.I67I	YWHAB_uc002xmu.2_Silent_p.I67I	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
TOMM34	10953	broad.mit.edu	37	20	43583713	43583713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43583713T>C	uc002xmy.2	-	3	516	c.376A>G	c.(376-378)AAC>GAC	p.N126D	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	126				N -> S (in Ref. 5; BAD96672).	protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---
WFDC5	149708	broad.mit.edu	37	20	43739138	43739138	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43739138G>A	uc002xne.1	-	3	349	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	90	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43945607	43945607	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43945607C>T	uc002xns.2	+	12					RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091			recombining binding protein L						signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SPINLW1	57119	broad.mit.edu	37	20	44166681	44166681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44166681A>G	uc010zxc.1	-	4	476	c.444T>C	c.(442-444)TGT>TGC	p.C148C	WFDC6_uc002xos.1_Silent_p.C48C	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	48	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44469372	44469372	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44469372A>C	uc002xpv.1	+	4	631	c.542A>C	c.(541-543)AAC>ACC	p.N181T	SNX21_uc002xps.1_Missense_Mutation_p.N181T|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.N171T|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	181	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44505771	44505771	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44505771T>C	uc002xqd.2	+	2	777	c.574T>C	c.(574-576)TTC>CTC	p.F192L	ZSWIM3_uc010zxg.1_Missense_Mutation_p.F186L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	192							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506225	44506225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44506225C>A	uc002xqd.2	+	2	1231	c.1028C>A	c.(1027-1029)TCT>TAT	p.S343Y	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S337Y	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	343							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44538650	44538650	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44538650T>C	uc002xqn.1	-	4	340	c.260A>G	c.(259-261)GAG>GGG	p.E87G	PLTP_uc002xql.1_5'UTR|PLTP_uc002xqm.1_Missense_Mutation_p.E107G|PLTP_uc002xqo.1_Missense_Mutation_p.E87G|PLTP_uc002xqp.1_Missense_Mutation_p.E87G|PLTP_uc002xqq.1_Missense_Mutation_p.E56G|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.E87G	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	87					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44596981	44596981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44596981C>T	uc002xqw.2	-	4	586	c.463G>A	c.(463-465)GCT>ACT	p.A155T	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.A123T|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44640886	44640886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44640886C>T	uc002xqz.2	+	7	1127	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	370	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)													---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691317	44691317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44691317C>T	uc002xrd.2	-	7	1890	c.1362G>A	c.(1360-1362)TCG>TCA	p.S454S	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.S454S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44869870	44869870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44869870G>A	uc002xrm.2	-	2	683	c.282C>T	c.(280-282)GAC>GAT	p.D94D	CDH22_uc010ghk.1_Silent_p.D94D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	94	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC35C2	51006	broad.mit.edu	37	20	44983738	44983738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44983738T>C	uc002xro.2	-	6	1092	c.551A>G	c.(550-552)CAG>CGG	p.Q184R	SLC35C2_uc002xrp.2_Missense_Mutation_p.Q163R|SLC35C2_uc002xrq.2_Missense_Mutation_p.Q184R|SLC35C2_uc002xrr.2_Missense_Mutation_p.Q184R|SLC35C2_uc010zxn.1_Missense_Mutation_p.Q49R|SLC35C2_uc010zxo.1_Missense_Mutation_p.Q70R|SLC35C2_uc010zxp.1_Missense_Mutation_p.Q213R	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	184					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44996115	44996115	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44996115G>A	uc002xrt.1	-	22	2257	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	ELMO2_uc010zxq.1_Silent_p.L415L|ELMO2_uc002xrs.1_Silent_p.L430L|ELMO2_uc002xru.1_Silent_p.L683L|ELMO2_uc010zxr.1_Silent_p.L695L|ELMO2_uc010zxs.1_Silent_p.L500L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	683					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44999996	44999996	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44999996T>A	uc002xrt.1	-	19	2006	c.1796A>T	c.(1795-1797)GAG>GTG	p.E599V	ELMO2_uc010zxq.1_Missense_Mutation_p.E331V|ELMO2_uc002xrs.1_Missense_Mutation_p.E346V|ELMO2_uc002xru.1_Missense_Mutation_p.E599V|ELMO2_uc010zxr.1_Missense_Mutation_p.E611V|ELMO2_uc010zxs.1_Missense_Mutation_p.E416V|ELMO2_uc002xrv.1_Missense_Mutation_p.E318V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	599	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45129985	45129985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45129985A>G	uc002xsc.2	-	5	2177	c.1993T>C	c.(1993-1995)TTT>CTT	p.F665L	ZNF334_uc002xsa.2_Missense_Mutation_p.F688L|ZNF334_uc002xsb.2_Missense_Mutation_p.F627L|ZNF334_uc002xsd.2_Missense_Mutation_p.F627L|ZNF334_uc010ghl.2_Missense_Mutation_p.F664L	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	665	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130828	45130828	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45130828T>C	uc002xsc.2	-	5	1334	c.1150A>G	c.(1150-1152)AAA>GAA	p.K384E	ZNF334_uc002xsa.2_Missense_Mutation_p.K407E|ZNF334_uc002xsb.2_Missense_Mutation_p.K346E|ZNF334_uc002xsd.2_Missense_Mutation_p.K346E|ZNF334_uc010ghl.2_Missense_Mutation_p.K383E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45354435	45354435	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45357988	45357988	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45357988C>A	uc002xsl.2	+							NM_030777	NP_110404			solute carrier family 2 member 10							endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46279854	46279854	+	Silent	SNP	G	A	A	rs72181894		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46279854G>A	uc002xtk.2	+	20	3985	c.3780G>A	c.(3778-3780)CAG>CAA	p.Q1260Q	NCOA3_uc010ght.1_Silent_p.Q1251Q|NCOA3_uc002xtl.2_Silent_p.Q1256Q|NCOA3_uc002xtm.2_Silent_p.Q1255Q|NCOA3_uc002xtn.2_Silent_p.Q1259Q|NCOA3_uc010zyc.1_Silent_p.Q1055Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1260	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281156	46281156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281156G>A	uc002xtk.2	+	21	4158	c.3953G>A	c.(3952-3954)GGA>GAA	p.G1318E	NCOA3_uc002xtl.2_Missense_Mutation_p.G1314E|NCOA3_uc002xtm.2_Missense_Mutation_p.G1313E|NCOA3_uc002xtn.2_Missense_Mutation_p.G1317E|NCOA3_uc010zyc.1_Missense_Mutation_p.G1113E	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1318					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47262383	47262383	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47262383A>G	uc002xtw.1	-						PREX1_uc002xtv.1_Intron	NM_020820	NP_065871			phosphatidylinositol-3,4,						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266665	47266665	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47266665T>C	uc002xtw.1	-	24	2920	c.2897A>G	c.(2896-2898)GAC>GGC	p.D966G	PREX1_uc002xtv.1_Missense_Mutation_p.D263G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	966					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47585715	47585715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47585715C>T	uc002xtx.3	+	9	1243	c.1091C>T	c.(1090-1092)GCC>GTC	p.A364V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	364					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47601974	47601974	+	Silent	SNP	C	T	T	rs145085689		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47601974C>T	uc002xtx.3	+	16	2252	c.2100C>T	c.(2098-2100)AGC>AGT	p.S700S	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	700	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47621755	47621755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47621755A>G	uc002xtx.3	+	26	3733	c.3581A>G	c.(3580-3582)AAC>AGC	p.N1194S	ARFGEF2_uc010zyf.1_Missense_Mutation_p.N487S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1194					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47630429	47630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47630429T>C	uc002xtx.3	+	30	4263	c.4111T>C	c.(4111-4113)TGG>CGG	p.W1371R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.W664R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1371					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47852753	47852753	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47852753T>C	uc002xuh.2	+	13	1648	c.1587T>C	c.(1585-1587)ATT>ATC	p.I529I		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47863988	47863988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47863988C>T	uc002xui.2	-	14	5820	c.5573G>A	c.(5572-5574)GGC>GAC	p.G1858D		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1858							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47874037	47874037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47874037C>T	uc002xui.2	-	8	2828	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	861							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47990019	47990019	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47990019T>A	uc002xur.1	-	2	2242	c.2078A>T	c.(2077-2079)GAC>GTC	p.D693V	KCNB1_uc002xus.1_Missense_Mutation_p.D693V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	693	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48431651	48431651	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48431651G>A	uc002xuv.1	+	2	343	c.133G>A	c.(133-135)GTG>ATG	p.V45M	SLC9A8_uc010zym.1_Translation_Start_Site|SLC9A8_uc010zyj.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyk.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyl.1_Missense_Mutation_p.V45M|SLC9A8_uc010gib.1_Missense_Mutation_p.V45M	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	45						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)															---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49211903	49211903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49211903T>C	uc002xvm.2	-						FAM65C_uc010zyt.1_Intron|FAM65C_uc010zyu.1_Intron	NM_080829	NP_543019			hypothetical protein LOC140876											ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49218812	49218812	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49218812C>A	uc002xvm.2	-	13	1762	c.1444G>T	c.(1444-1446)GGC>TGC	p.G482C	FAM65C_uc010zyt.1_Missense_Mutation_p.G486C|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G482C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	482										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49224977	49224977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49224977A>G	uc002xvm.2	-	11	1211	c.893T>C	c.(892-894)GTG>GCG	p.V298A	FAM65C_uc010zyt.1_Missense_Mutation_p.V302A|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V298A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	298										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49225053	49225053	+	Missense_Mutation	SNP	G	T	T	rs139011816		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49225053G>T	uc002xvm.2	-	11	1135	c.817C>A	c.(817-819)CTG>ATG	p.L273M	FAM65C_uc010zyt.1_Missense_Mutation_p.L277M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.L273M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	273										ovary(2)	2																		---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49575045	49575045	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49575045C>G	uc002xvw.1	-	1	16	c.16G>C	c.(16-18)GTC>CTC	p.V6L	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	6					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50139780	50139780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50139780C>T	uc002xwd.2	-	2	1220	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	NFATC2_uc002xwc.2_Missense_Mutation_p.A334T|NFATC2_uc010zyv.1_Missense_Mutation_p.A115T|NFATC2_uc010zyw.1_Missense_Mutation_p.A115T|NFATC2_uc010zyx.1_Missense_Mutation_p.A314T|NFATC2_uc010zyy.1_Missense_Mutation_p.A115T|NFATC2_uc010zyz.1_Missense_Mutation_p.A115T|NFATC2_uc002xwe.2_Missense_Mutation_p.A314T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	334					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)																	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50235532	50235532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50235532C>T	uc002xwg.1	-	20	2166	c.2166G>A	c.(2164-2166)AAG>AAA	p.K722K	ATP9A_uc010gih.1_Silent_p.K586K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	722	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406794	50406794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50406794A>G	uc002xwh.3	-	2	2329	c.2228T>C	c.(2227-2229)CTG>CCG	p.L743P	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	743					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50715059	50715059	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50715059C>A	uc002xwk.2	-	6	1180	c.831G>T	c.(829-831)AAG>AAT	p.K277N	ZFP64_uc002xwj.2_Missense_Mutation_p.K58N	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198090	52198090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198090C>T	uc002xwq.3	-	1	1547	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52573988	52573988	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52573988T>C	uc002xws.2	-	10	1737	c.1399A>G	c.(1399-1401)AAA>GAA	p.K467E	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.K453E|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	467						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779357	52779357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52779357G>A	uc002xwv.2	-	7	1287	c.889C>T	c.(889-891)CCT>TCT	p.P297S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P155S|CYP24A1_uc002xww.2_Missense_Mutation_p.P297S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	297					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)													---	---	---	---
AURKA	6790	broad.mit.edu	37	20	54956577	54956577	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54956577A>G	uc002xxd.1	-	8	1183	c.617T>C	c.(616-618)GTC>GCC	p.V206A	AURKA_uc002xxe.1_Missense_Mutation_p.V206A|AURKA_uc002xxf.1_Missense_Mutation_p.V206A|AURKA_uc002xxg.1_Missense_Mutation_p.V206A|AURKA_uc002xxh.1_Missense_Mutation_p.V206A|AURKA_uc002xxi.1_Missense_Mutation_p.V206A|AURKA_uc002xxj.1_Missense_Mutation_p.V206A|AURKA_uc002xxk.1_Missense_Mutation_p.V206A|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	206	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)															---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735739	56735739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56735739C>T	uc002xyv.2	+	4	313	c.275C>T	c.(274-276)CCA>CTA	p.P92L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	92										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)															---	---	---	---
STX16	8675	broad.mit.edu	37	20	57244488	57244488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57244488G>A	uc002xzi.2	+	5	1270	c.535G>A	c.(535-537)GCA>ACA	p.A179T	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.A162T|STX16_uc002xzm.2_Missense_Mutation_p.A175T|STX16_uc002xzj.2_Missense_Mutation_p.A158T|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	179	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)															---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57429108	57429108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57429108C>T	uc002xzw.2	+	1	1073	c.788C>T	c.(787-789)GCG>GTG	p.A263V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)					Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57566480	57566480	+	Silent	SNP	C	T	T	rs143108259	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57566480C>T	uc002yag.2	+	9	1122	c.1095C>T	c.(1093-1095)AGC>AGT	p.S365S	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	365					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57568788	57568788	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57568788A>G	uc002yag.2	+	13	1604	c.1577A>G	c.(1576-1578)GAC>GGC	p.D526G	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	526					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57599377	57599377	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57599377A>G	uc002yak.2	+	4	1164	c.895A>G	c.(895-897)ACC>GCC	p.T299A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	299					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)													---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766438	57766438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766438C>T	uc002yan.2	+	1	364	c.364C>T	c.(364-366)CCT>TCT	p.P122S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	122						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766652C>T	uc002yan.2	+	1	578	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766659	57766659	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58470489	58470489	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58470489T>A	uc002yaz.2	-							NM_014258	NP_055073			synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)															---	---	---	---
C20orf177	63939	broad.mit.edu	37	20	58519370	58519370	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58519370A>G	uc002yba.2	+	5	787	c.372A>G	c.(370-372)CCA>CCG	p.P124P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P124P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	124										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)															---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58533771	58533771	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58533771G>A	uc002ybe.2	+	1					CDH26_uc010zzy.1_RNA	NM_177980	NP_817089			cadherin-like 26 isoform a						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---
MIR646	693231	broad.mit.edu	37	20	58883599	58883599	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58883599T>C	hsa-mir-646|MI0003661	+			c.68T>C			uc002ybl.2_Intron|uc010gjw.1_Intron																	0																		---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60898735	60898735	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60898735A>G	uc002ycq.2	-							NM_005560	NP_005551			laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
C20orf200	253868	broad.mit.edu	37	20	61143670	61143670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61143670G>A	uc002ycz.1	-	3	669	c.178C>T	c.(178-180)CGG>TGG	p.R60W	C20orf200_uc002ycy.2_RNA	NM_152757	NP_689970			hypothetical protein LOC253868												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)															---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61391524	61391524	+	Missense_Mutation	SNP	C	T	T	rs73918681	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61391524C>T	uc002ydf.2	+	4	1533	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	388	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)															---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61941211	61941211	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61941211C>T	uc011aau.1	+	10	1307	c.1207C>T	c.(1207-1209)CAC>TAC	p.H403Y	COL20A1_uc011aav.1_Missense_Mutation_p.H224Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	403	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)															OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981776	61981776	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61981776G>A	uc002yes.2	-	5	1165	c.987C>T	c.(985-987)AAC>AAT	p.N329N	CHRNA4_uc002yet.1_Silent_p.N153N|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.N258N|CHRNA4_uc002yev.1_Silent_p.N153N|CHRNA4_uc010gkf.1_Silent_p.N153N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	329	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)													---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038197	62038197	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62038197T>C	uc002yey.1	-	17	2596	c.2419A>G	c.(2419-2421)ATC>GTC	p.I807V	KCNQ2_uc002yez.1_Missense_Mutation_p.I776V|KCNQ2_uc002yfa.1_Missense_Mutation_p.I789V|KCNQ2_uc002yfb.1_Missense_Mutation_p.I779V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	807	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62121899	62121899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62121899C>T	uc002yfd.1	-	5	1063	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.R321Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.R321Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62192702	62192702	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62192702C>T	uc002yfm.2	-	14	7845	c.6953_splice	c.e14+1	p.W2318_splice	PRIC285_uc002yfl.1_Splice_Site_p.W1749_splice	NM_001037335	NP_001032412			PPAR-alpha interacting complex protein 285						cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62196064	62196064	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62196064G>A	uc002yfm.2	-	9	5003	c.4111C>T	c.(4111-4113)CAC>TAC	p.H1371Y	PRIC285_uc002yfl.1_Missense_Mutation_p.H802Y	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1371					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62319644	62319644	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62319644G>A	uc002yfu.1	+						RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518			regulator of telomere elongation helicase 1						DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62324280	62324280	+	Silent	SNP	C	A	A	rs12480346	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62324280C>A	uc002yfu.1	+	29	3118	c.2775C>A	c.(2773-2775)TCC>TCA	p.S925S	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.S925S|RTEL1_uc011abd.1_Silent_p.S949S|RTEL1_uc011abe.1_Silent_p.S702S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.S170S|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	925					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62378537	62378537	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62378537C>T	uc002ygv.1	-	5	1717	c.1516G>A	c.(1516-1518)GGC>AGC	p.G506S	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)																	---	---	---	---
UCKL1	54963	broad.mit.edu	37	20	62577085	62577085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62577085A>G	uc010gkn.2	-						UCKL1_uc011abm.1_Intron|UCKL1_uc011abn.1_Intron|UCKL1_uc011abo.1_Intron	NM_017859	NP_060329			uridine-cytidine kinase 1-like 1						interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62597536	62597536	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62597536T>A	uc002yhl.1	-	5	1046	c.992A>T	c.(991-993)AAC>ATC	p.N331I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
PRPF6	24148	broad.mit.edu	37	20	62626810	62626810	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62626810C>A	uc002yho.2	+	6	914	c.746C>A	c.(745-747)ACT>AAT	p.T249N	PRPF6_uc002yhp.2_Missense_Mutation_p.T249N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	249					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---
RGS19	10287	broad.mit.edu	37	20	62705223	62705223	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62705223A>T	uc002yhy.2	-	6	904	c.637T>A	c.(637-639)TCC>ACC	p.S213T	RGS19_uc002yhz.2_Missense_Mutation_p.S191T|RGS19_uc002yia.2_Missense_Mutation_p.S213T|RGS19_uc002yib.2_Missense_Mutation_p.S213T	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	213	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)																	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737989	62737989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62737989C>T	uc011abt.1	-	1	196	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	66	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)																	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62896678	62896678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62896678T>C	uc002yil.3	+	4	678	c.478T>C	c.(478-480)TAT>CAT	p.Y160H	PCMTD2_uc002yim.3_Missense_Mutation_p.Y160H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	160						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)																	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599525	15599525	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15599525A>G	uc002yjo.3	+	5	799	c.757A>G	c.(757-759)ACA>GCA	p.T253A	RBM11_uc002yjn.3_Missense_Mutation_p.T139A|RBM11_uc002yjp.3_Missense_Mutation_p.T139A	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	253							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17172081	17172081	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17172081A>T	uc002yjy.1	+	6	778	c.561A>T	c.(559-561)TTA>TTT	p.L187F	USP25_uc011aby.1_Missense_Mutation_p.L187F|USP25_uc002yjz.1_Missense_Mutation_p.L187F|USP25_uc010gla.1_Missense_Mutation_p.L187F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	187					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17203831	17203831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17203831A>T	uc002yjy.1	+	16	2093	c.1876A>T	c.(1876-1878)ATT>TTT	p.I626F	USP25_uc011aby.1_Missense_Mutation_p.I626F|USP25_uc002yjz.1_Missense_Mutation_p.I626F|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	626					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19642347C>T	uc002ykw.2	-	25	3030	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1000	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8																		---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746311	22746311	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22746311G>A	uc002yld.1	+	9	1422	c.1173G>A	c.(1171-1173)AAG>AAA	p.K391K	NCAM2_uc011acb.1_Silent_p.K249K|NCAM2_uc011acc.1_Silent_p.K416K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	391	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---
ATP5J	522	broad.mit.edu	37	21	27102015	27102015	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27102015C>T	uc002yls.2	-	2	764	c.91G>A	c.(91-93)GCA>ACA	p.A31T	ATP5J_uc002ylt.2_Missense_Mutation_p.A31T|ATP5J_uc002ylu.2_Missense_Mutation_p.A31T|ATP5J_uc002ylv.2_Missense_Mutation_p.A39T|ATP5J_uc002ylw.2_Missense_Mutation_p.A31T	NM_001685	NP_001676	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	31					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0																		---	---	---	---
APP	351	broad.mit.edu	37	21	27372463	27372463	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27372463G>A	uc002ylz.2	-	7	1100	c.900C>T	c.(898-900)TGC>TGT	p.C300C	APP_uc010glk.2_Silent_p.C295C|APP_uc002yma.2_Silent_p.C300C|APP_uc011ach.1_Silent_p.C244C|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	300	Extracellular (Potential).|BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
CYYR1	116159	broad.mit.edu	37	21	27852713	27852713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27852713A>C	uc002ymd.2	-	3	534	c.212T>G	c.(211-213)GTA>GGA	p.V71G	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.V71G	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	71	Helical; (Potential).					integral to membrane					0																		---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28212379	28212379	+	Missense_Mutation	SNP	G	A	A	rs142639689	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28212379G>A	uc002ymf.2	-	6	2122	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	556	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)														---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28302342	28302342	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28302342G>A	uc002ymg.2	-	7	2817	c.2088C>T	c.(2086-2088)TCC>TCT	p.S696S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30302844	30302844	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30302844A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30318468	30318468	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30318468A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30380219A>T	uc002yms.2	-	4	675	c.588T>A	c.(586-588)CAT>CAA	p.H196Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	196											0																		---	---	---	---
USP16	10600	broad.mit.edu	37	21	30409640	30409640	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30409640A>G	uc002ymy.2	+	6	694	c.492A>G	c.(490-492)TTA>TTG	p.L164L	USP16_uc002ymx.2_Silent_p.L163L|USP16_uc002ymw.2_Silent_p.L164L|USP16_uc011acm.1_Silent_p.L149L|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	164					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	30910122	30910122	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30910122C>T	uc011acs.1	-						GRIK1_uc002ynn.2_Intron|GRIK1_uc011act.1_Intron	NM_000830	NP_000821			glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)													---	---	---	---
KRTAP23-1	337963	broad.mit.edu	37	21	31720870	31720870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31720870G>T	uc002yny.1	-	1	55	c.55C>A	c.(55-57)CTG>ATG	p.L19M		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	19						intermediate filament					0																		---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802878	31802878	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31802878G>T	uc011acw.1	+	1	285	c.285G>T	c.(283-285)CAG>CAT	p.Q95H		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	95						intermediate filament					0																		---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647200	33647200	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647200G>T	uc002ypi.2	-	2	393	c.342C>A	c.(340-342)TCC>TCA	p.S114S	C21orf45_uc011adn.1_Silent_p.S114S	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	114					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34117160	34117160	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34117160T>C	uc002yqn.2	-	13	2323	c.2133A>G	c.(2131-2133)ACA>ACG	p.T711T	GCFC1_uc002yql.2_Silent_p.T220T|GCFC1_uc002yqm.2_Silent_p.T205T|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.T711T	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	711				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34136657	34136657	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34136657A>G	uc002yqn.2	-	3	839	c.649_splice	c.e3+1	p.G217_splice	GCFC1_uc002yqo.2_Splice_Site|GCFC1_uc002yqp.2_Splice_Site_p.G217_splice|GCFC1_uc002yqr.2_Splice_Site_p.G217_splice	NM_016631	NP_057715			GC-rich sequence DNA-binding factor candidate							cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34617301	34617301	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34617301T>A	uc002yrd.2	+	4	471	c.143T>A	c.(142-144)TTC>TAC	p.F48Y	IFNAR2_uc002yrb.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrc.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yre.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrf.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrg.2_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	48	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619086	34619086	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619086C>T	uc002yrd.2	+	5	613	c.285C>T	c.(283-285)CTC>CTT	p.L95L	IFNAR2_uc002yrb.2_Silent_p.L95L|IFNAR2_uc002yrc.2_Silent_p.L95L|IFNAR2_uc002yre.2_Silent_p.L95L|IFNAR2_uc002yrf.2_Silent_p.L95L|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	95	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619165	34619165	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619165T>C	uc002yrd.2	+	5	692	c.364T>C	c.(364-366)TGC>CGC	p.C122R	IFNAR2_uc002yrb.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrc.2_Missense_Mutation_p.C122R|IFNAR2_uc002yre.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrf.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	122	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IL10RB	3588	broad.mit.edu	37	21	34660535	34660535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34660535C>T	uc002yrk.1	+	6	872	c.773C>T	c.(772-774)CCT>CTT	p.P258L	IL10RB_uc002yrl.1_Missense_Mutation_p.P260L	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	258	Cytoplasmic (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0																		---	---	---	---
TMEM50B	757	broad.mit.edu	37	21	34837700	34837700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34837700T>C	uc002yrt.1	-	4	407	c.229A>G	c.(229-231)AAT>GAT	p.N77D	TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	77						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
GART	2618	broad.mit.edu	37	21	34897169	34897169	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34897169T>G	uc002yrx.2	-	11	1340	c.1205A>C	c.(1204-1206)GAA>GCA	p.E402A	GART_uc002yrz.2_Missense_Mutation_p.E402A|GART_uc010gmd.2_Missense_Mutation_p.E64A|GART_uc002yry.2_Missense_Mutation_p.E402A|GART_uc002ysa.2_Missense_Mutation_p.E402A	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	402					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
SON	6651	broad.mit.edu	37	21	34923142	34923142	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34923142G>A	uc002yse.1	+	3	1654	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	SON_uc002ysb.1_Silent_p.G535G|SON_uc002ysc.2_Silent_p.G535G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	535					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35247781	35247781	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35247781C>A	uc002yta.1	+	34	4565	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1428M|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4																		---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468693	35468693	+	Missense_Mutation	SNP	G	A	A	rs143365196		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35468693G>A	uc002yto.2	+	2	1708	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	399	Cytoplasmic (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2																		---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36081070	36081070	+	Silent	SNP	G	A	A	rs149133306	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36081070G>A	uc010gmt.1	+	5	1737	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	CLIC6_uc002yuf.1_Silent_p.A561A	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	579	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36206799	36206799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36206799A>G	uc002yuh.2	-	4	2210	c.632T>C	c.(631-633)GTC>GCC	p.V211A	RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.V238A|RUNX1_uc010gmv.2_Missense_Mutation_p.V238A|RUNX1_uc002yuj.3_Missense_Mutation_p.V106A|RUNX1_uc002yuk.3_Missense_Mutation_p.V238A|RUNX1_uc002yul.1_Missense_Mutation_p.V3A|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.V238A|RUNX1_uc002yuo.1_Missense_Mutation_p.V211A	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	211	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---
MIR802	768219	broad.mit.edu	37	21	37093039	37093039	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37093039A>T	hsa-mir-802|MI0003906	+			c.27A>T			RUNX1_uc002yut.1_Intron																	0																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408405	37408405	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408405T>C	uc002yuw.1	-	10					SETD4_uc002yux.1_3'UTR|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_3'UTR	NM_017438	NP_059134			SET domain containing 4 isoform a											large_intestine(1)|ovary(1)	2																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408417	37408417	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408417A>G	uc002yuw.1	-	10	2694	c.1321T>C	c.(1321-1323)TGA>CGA	p.*441R	SETD4_uc002yux.1_Nonstop_Mutation_p.*417R|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Nonstop_Mutation_p.*441R	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	441										large_intestine(1)|ovary(1)	2																		---	---	---	---
CBR3	874	broad.mit.edu	37	21	37507593	37507593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37507593C>T	uc002yve.2	+	1	331	c.103C>T	c.(103-105)CTC>TTC	p.L35F	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	35						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0																		---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37717320	37717320	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37717320T>C	uc002yvi.2	+	8	1072	c.996T>C	c.(994-996)TGT>TGC	p.C332C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	332					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2																		---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37781130	37781130	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37781130T>C	uc002yvj.2	+	9	965	c.827_splice	c.e9+2	p.R276_splice		NM_005441	NP_005432			chromatin assembly factor 1 subunit B						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2																		---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309119	38309119	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38309119G>A	uc010gnb.2	-	4	1827	c.626C>T	c.(625-627)CCG>CTG	p.P209L	HLCS_uc002yvs.2_Missense_Mutation_p.P209L|HLCS_uc010gnc.1_Missense_Mutation_p.P356L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	209					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)													---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38460521	38460521	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38460521T>C	uc002yvz.2	+	4	318	c.213T>C	c.(211-213)TGT>TGC	p.C71C	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.C71C|TTC3_uc002ywb.2_Silent_p.C71C|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.C71C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	71					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38538826	38538826	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38538826A>G	uc002yvz.2	+	33	4415	c.4310A>G	c.(4309-4311)CAC>CGC	p.H1437R	TTC3_uc011aee.1_Missense_Mutation_p.H1127R|TTC3_uc002ywa.2_Missense_Mutation_p.H1437R|TTC3_uc002ywb.2_Missense_Mutation_p.H1437R|TTC3_uc010gnf.2_Missense_Mutation_p.H1202R|TTC3_uc002ywc.2_Missense_Mutation_p.H1127R|TTC3_uc002ywd.1_Missense_Mutation_p.H501R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1437					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38570308	38570308	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38570308A>T	uc002yvz.2	+	44	5937	c.5832A>T	c.(5830-5832)GAA>GAT	p.E1944D	TTC3_uc002ywa.2_Missense_Mutation_p.E1944D|TTC3_uc002ywb.2_Missense_Mutation_p.E1944D|TTC3_uc010gnf.2_Missense_Mutation_p.E1709D|TTC3_uc002ywc.2_Missense_Mutation_p.E1634D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1944					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
DSCR9	257203	broad.mit.edu	37	21	38593691	38593691	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38593691G>A	uc010gnk.2	+	1		c.803G>A								Homo sapiens mRNA, complete cds.												0																		---	---	---	---
DSCR4	10281	broad.mit.edu	37	21	39427037	39427037	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39427037A>C	uc002ywp.2	-	3	374	c.269T>G	c.(268-270)ATT>AGT	p.I90S		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	90										ovary(1)	1																		---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671242	39671242	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39671242C>T	uc002ywv.2	+	4	361	c.59C>T	c.(58-60)GCT>GTT	p.A20V	KCNJ15_uc002yww.2_Missense_Mutation_p.A20V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A20V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	20	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671343	39671343	+	Missense_Mutation	SNP	C	A	A	rs117438400	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39671343C>A	uc002ywv.2	+	4	462	c.160C>A	c.(160-162)CTG>ATG	p.L54M	KCNJ15_uc002yww.2_Missense_Mutation_p.L54M|KCNJ15_uc002ywx.2_Missense_Mutation_p.L54M	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	54	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	40250774	40250774	+	IGR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40250774C>A								ETS2 (53898 upstream) : PSMG1 (296616 downstream)																																			---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40642230	40642230	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40642230T>A	uc002yxk.1	-	14	1513	c.1374A>T	c.(1372-1374)GGA>GGT	p.G458G	BRWD1_uc002yxl.2_Silent_p.G458G|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Silent_p.G178G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	458	WD 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40670420	40670420	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40670420C>G	uc002yxk.1	-	5	426	c.287G>C	c.(286-288)AGT>ACT	p.S96T	BRWD1_uc002yxl.2_Missense_Mutation_p.S96T|BRWD1_uc002yxm.2_Missense_Mutation_p.S96T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41137591	41137591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41137591T>C	uc002yyo.2	+	3	333	c.230T>C	c.(229-231)GTG>GCG	p.V77A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	77	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41452117	41452117	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41452117C>T	uc002yyq.1	-	25	4834	c.4382G>A	c.(4381-4383)CGC>CAC	p.R1461H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1461	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41648131	41648131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41648131G>A	uc002yyq.1	-	11	2701	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	750	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
MX2	4600	broad.mit.edu	37	21	42780168	42780168	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42780168C>T	uc002yzf.1	+	14					MX2_uc002yzg.1_3'UTR|MX2_uc010gop.1_3'UTR	NM_002463	NP_002454			myxovirus resistance protein 2						response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)																---	---	---	---
MX1	4599	broad.mit.edu	37	21	42804080	42804080	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42804080T>C	uc002yzh.2	+	7	1030	c.83T>C	c.(82-84)GTG>GCG	p.V28A	MX1_uc002yzi.2_Missense_Mutation_p.V28A|MX1_uc010goq.2_Missense_Mutation_p.V28A	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	28					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)																---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43412166	43412166	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43412166C>T	uc002zab.3	-	3	2253	c.2039G>A	c.(2038-2040)CGC>CAC	p.R680H	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.R680H|ZNF295_uc002zaa.3_Missense_Mutation_p.R680H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	680	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43413493	43413493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43413493T>C	uc002zab.3	-	3	926	c.712A>G	c.(712-714)AAT>GAT	p.N238D	ZNF295_uc002yzz.3_Missense_Mutation_p.N238D|ZNF295_uc002yzy.3_Missense_Mutation_p.N238D|ZNF295_uc002zaa.3_Missense_Mutation_p.N238D|ZNF295_uc010gov.1_Missense_Mutation_p.N238D|ZNF295_uc002zac.2_Missense_Mutation_p.N238D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	238					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43496156	43496156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43496156G>A	uc002zaf.1	+	2	119	c.119G>A	c.(118-120)CGT>CAT	p.R40H	UMODL1_uc002zad.1_Translation_Start_Site|UMODL1_uc002zae.1_Translation_Start_Site|UMODL1_uc002zag.1_Missense_Mutation_p.R40H|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	40	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43704740	43704740	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43704740A>G	uc002zaq.2	+	7	911	c.805A>G	c.(805-807)ATC>GTC	p.I269V	ABCG1_uc002zan.2_Missense_Mutation_p.I271V|ABCG1_uc002zam.2_Missense_Mutation_p.I247V|ABCG1_uc002zao.2_Missense_Mutation_p.I266V|ABCG1_uc002zap.2_Missense_Mutation_p.I269V|ABCG1_uc002zar.2_Missense_Mutation_p.I280V|ABCG1_uc011aev.1_Missense_Mutation_p.I280V|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	269	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43979141	43979141	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43979141C>A	uc002zbi.2	+	12	1335	c.923C>A	c.(922-924)CCC>CAC	p.P308H	SLC37A1_uc002zbj.2_Missense_Mutation_p.P308H	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	308	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44117604	44117604	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44117604A>C	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44270183	44270183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44270183C>T	uc002zci.2	-	11	1288	c.1215G>A	c.(1213-1215)CCG>CCA	p.P405P	WDR4_uc002zck.1_Silent_p.P405P|WDR4_uc002zcl.1_Silent_p.P259P|WDR4_uc010gpg.1_Silent_p.P404P|WDR4_uc011aew.1_Silent_p.P259P|WDR4_uc010gph.1_Silent_p.P259P	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	405					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44273682	44273682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44273682C>T	uc002zci.2	-	9	1045	c.972G>A	c.(970-972)TGG>TGA	p.W324*	WDR4_uc002zck.1_Nonsense_Mutation_p.W324*|WDR4_uc002zcl.1_Nonsense_Mutation_p.W178*|WDR4_uc010gpg.1_Nonsense_Mutation_p.W323*|WDR4_uc011aew.1_Nonsense_Mutation_p.W178*|WDR4_uc010gph.1_Nonsense_Mutation_p.W178*	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	324	WD 4.				tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
CBS	875	broad.mit.edu	37	21	44482463	44482463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44482463T>C	uc002zcu.2	-	11	1242	c.997A>G	c.(997-999)ACC>GCC	p.T333A	CBS_uc002zcs.1_Missense_Mutation_p.T228A|CBS_uc002zct.2_Missense_Mutation_p.T333A|CBS_uc002zcw.3_Missense_Mutation_p.T333A|CBS_uc002zcv.2_Missense_Mutation_p.T333A|CBS_uc002zcx.2_5'Flank	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	333					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)													---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44515553	44515553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44515553C>T	uc002zda.1	-	5	427	c.343G>A	c.(343-345)GTC>ATC	p.V115I	U2AF1_uc002zcy.1_Missense_Mutation_p.V42I|U2AF1_uc002zcz.1_Missense_Mutation_p.V42I|U2AF1_uc002zdb.1_Missense_Mutation_p.V115I|U2AF1_uc010gpi.1_Missense_Mutation_p.V115I	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	115	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45502855	45502855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45502855G>A	uc002zea.2	+	14	2079	c.1910G>A	c.(1909-1911)AGC>AAC	p.S637N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S348N|TRAPPC10_uc011afa.1_Missense_Mutation_p.S56N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	637					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
DNMT3L	29947	broad.mit.edu	37	21	45668961	45668961	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45668961C>T	uc002zeg.1	-	11	1427	c.943G>A	c.(943-945)GGA>AGA	p.G315R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G315R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	315					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)														---	---	---	---
C21orf29	54084	broad.mit.edu	37	21	45941774	45941774	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45941774A>T	uc002zfe.1	-	9	1624	c.1558T>A	c.(1558-1560)TCC>ACC	p.S520T	C21orf29_uc010gpv.1_Missense_Mutation_p.S452T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	520	EAR 5.				cell adhesion	extracellular region	structural molecule activity				0																		---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959687	45959687	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45959687T>G	uc002zfh.1	-	1	392	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	116	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1																		---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276138	46276138	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46276138C>T	uc002zgb.1	-	4	629	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	PTTG1IP_uc011afj.1_RNA|PTTG1IP_uc011afk.1_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	pituitary tumor-transforming gene 1	140	Potential.|Cytoplasmic (Potential).				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)	1				Colorectal(79;0.0659)														---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46698095	46698095	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46698095A>G	uc002zhc.2	-						POFUT2_uc002zha.2_5'Flank|POFUT2_uc002zhb.2_Intron|POFUT2_uc002zhd.2_Intron	NM_133635	NP_598368			protein O-fucosyltransferase 2 isoform C						fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46888239	46888239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46888239G>A	uc011afs.1	+	2	1456	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	COL18A1_uc002zhg.2_Missense_Mutation_p.V64I|COL18A1_uc002zhi.2_Missense_Mutation_p.V244I	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	479	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925753	46925753	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46925753T>G	uc011afs.1	+	37	4346	c.4325T>G	c.(4324-4326)GTG>GGG	p.V1442G	COL18A1_uc002zhg.2_Missense_Mutation_p.V1027G|COL18A1_uc002zhi.2_Missense_Mutation_p.V1207G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.V8G|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1445	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360012	47360012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360012G>A	uc002zhq.1	+	13	1103	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	PCBP3_uc002zhp.1_Silent_p.Q306Q|PCBP3_uc002zhs.1_Silent_p.Q300Q|PCBP3_uc002zhr.1_Silent_p.Q325Q|PCBP3_uc002zht.1_Silent_p.Q316Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	326	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360061	47360061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360061A>G	uc002zhq.1	+	13	1152	c.1027A>G	c.(1027-1029)ATC>GTC	p.I343V	PCBP3_uc002zhp.1_Missense_Mutation_p.I323V|PCBP3_uc002zhs.1_Missense_Mutation_p.I317V|PCBP3_uc002zhr.1_Missense_Mutation_p.I342V|PCBP3_uc002zht.1_Missense_Mutation_p.I333V	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	343	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47402687	47402687	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47402687A>G	uc002zhu.1	+							NM_001848	NP_001839			collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423316	47423316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423316T>C	uc002zhu.1	+	35	2578	c.2476T>C	c.(2476-2478)TCC>CCC	p.S826P	COL6A1_uc010gqd.1_Missense_Mutation_p.S157P|COL6A1_uc002zhv.1_Missense_Mutation_p.S157P|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	826	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423435	47423435	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423435G>A	uc002zhu.1	+	35	2697	c.2595G>A	c.(2593-2595)ACG>ACA	p.T865T	COL6A1_uc010gqd.1_Silent_p.T196T|COL6A1_uc002zhv.1_Silent_p.T196T|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	865	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47545929	47545929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47545929C>T	uc002zia.1	+	26	2282	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C	COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	734	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
LSS	4047	broad.mit.edu	37	21	47611134	47611134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47611134C>T	uc002zij.2	-	22	2162	c.2083G>A	c.(2083-2085)GTC>ATC	p.V695I	LSS_uc011afv.1_Missense_Mutation_p.V684I|LSS_uc002zil.2_Missense_Mutation_p.V695I|LSS_uc002zik.2_Missense_Mutation_p.V615I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	695					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47625811	47625811	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47625811C>T	uc002zij.2	-	17	1688	c.1609G>A	c.(1609-1611)GTG>ATG	p.V537M	LSS_uc011afv.1_Missense_Mutation_p.V526M|LSS_uc002zil.2_Missense_Mutation_p.V537M|LSS_uc002zik.2_Missense_Mutation_p.V457M	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	537					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47975893	47975893	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47975893A>G	uc002zjo.2	+	29	3572	c.3389_splice	c.e29-2	p.D1130_splice	DIP2A_uc011afy.1_Splice_Site_p.D1066_splice|DIP2A_uc011afz.1_Splice_Site_p.D1126_splice|DIP2A_uc002zjr.2_Splice_Site_p.D97_splice	NM_015151	NP_055966			disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---
PRMT2	3275	broad.mit.edu	37	21	48064237	48064237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:48064237A>G	uc002zjx.2	+	5	478	c.164A>G	c.(163-165)GAA>GGA	p.E55G	PRMT2_uc002zjw.2_Missense_Mutation_p.E55G|PRMT2_uc002zjy.2_Missense_Mutation_p.E55G|PRMT2_uc010gqm.2_Missense_Mutation_p.E55G|PRMT2_uc011aga.1_Missense_Mutation_p.E55G|PRMT2_uc011agb.1_Missense_Mutation_p.E55G|PRMT2_uc011agc.1_Missense_Mutation_p.E55G|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	55	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)														---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17449187	17449187	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17449187C>T	uc002zlw.2	-	5	1131	c.1023_splice	c.e5+1	p.L341_splice	GAB4_uc010gqs.1_Splice_Site	NM_001037814	NP_001032903			GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)																---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17581299	17581299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17581299A>G	uc002zly.2	+	5	611	c.478A>G	c.(478-480)ACC>GCC	p.T160A	IL17RA_uc010gqt.2_Missense_Mutation_p.T160A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	160	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17589268	17589268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17589268G>A	uc002zly.2	+	13	1292	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	IL17RA_uc010gqt.2_Missense_Mutation_p.D335N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	387	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17621952	17621952	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17621952G>A	uc002zmf.2	-	6	771	c.743C>T	c.(742-744)CCC>CTC	p.P248L	CECR5_uc002zmd.2_Missense_Mutation_p.P59L|CECR5_uc002zme.2_Missense_Mutation_p.P40L|CECR5_uc002zmg.2_Missense_Mutation_p.P111L|CECR5_uc002zmh.2_Missense_Mutation_p.P218L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	248							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)																---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18171803	18171803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18171803C>T	uc002zmw.2	+	4	499	c.281C>T	c.(280-282)GCC>GTC	p.A94V	BCL2L13_uc002zmu.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmv.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Missense_Mutation_p.A94V|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	94					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18209815	18209815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18209815G>A	uc002zmw.2	+	7	1191	c.973G>A	c.(973-975)GCT>ACT	p.A325T	BCL2L13_uc002zmx.2_Missense_Mutation_p.A163T|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.A163T|BCL2L13_uc011agk.1_Missense_Mutation_p.A201T|BCL2L13_uc010gqz.2_Missense_Mutation_p.A45T|BCL2L13_uc002zmz.2_Missense_Mutation_p.A163T|BCL2L13_uc002zna.2_Missense_Mutation_p.A45T	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	325	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18304816	18304816	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18304816G>A	uc002zng.3	-	24	3781	c.3428C>T	c.(3427-3429)TCA>TTA	p.S1143L	MICAL3_uc011agl.1_Missense_Mutation_p.S1059L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1143	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18387532	18387532	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18387532A>C	uc002zng.3	-	3	691	c.338T>G	c.(337-339)GTT>GGT	p.V113G	MICAL3_uc011agl.1_Missense_Mutation_p.V113G|MICAL3_uc002znh.2_Missense_Mutation_p.V113G|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V113G|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.V113G|MICAL3_uc011agm.1_Missense_Mutation_p.V113G	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19341549	19341549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19341549G>A	uc002zpf.1	-	22	2874	c.2654C>T	c.(2653-2655)CCG>CTG	p.P885L	HIRA_uc011agx.1_Missense_Mutation_p.P751L|HIRA_uc010grn.1_Missense_Mutation_p.P678L|HIRA_uc010gro.1_Missense_Mutation_p.P841L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	885	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)																	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19898959	19898959	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19898959G>T	uc011ahc.1	-	8	636	c.603C>A	c.(601-603)GCC>GCA	p.A201A	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.A200A|TXNRD2_uc010grv.1_Silent_p.A201A|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.A169A	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	201					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)																	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19960547	19960547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19960547G>A	uc002zqz.2	-	15	2722	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	ARVCF_uc002zqy.2_Silent_p.R333R	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	817	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20760242	20760242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20760242G>A	uc010gsm.2	+	6	1131	c.919G>A	c.(919-921)GGC>AGC	p.G307S	ZNF74_uc002zsg.2_Missense_Mutation_p.G236S|ZNF74_uc002zsh.2_Missense_Mutation_p.G307S|ZNF74_uc002zsi.2_Missense_Mutation_p.G236S|ZNF74_uc010gsn.2_Missense_Mutation_p.G236S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	307	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800921	20800921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800921T>C	uc002zsl.1	-	6	1457	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	KLHL22_uc011ahr.1_Missense_Mutation_p.I307V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	450	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800941	20800941	+	Missense_Mutation	SNP	G	A	A	rs147687020	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800941G>A	uc002zsl.1	-	6	1437	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	KLHL22_uc011ahr.1_Missense_Mutation_p.T300M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	443	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21156280	21156280	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21156280C>T	uc002zsz.3	-	14	1762	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	PI4KA_uc010gsq.1_Missense_Mutation_p.A569T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	511					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288079	21288079	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21288079A>T	uc002ztf.2	+	2	833	c.324A>T	c.(322-324)CCA>CCT	p.P108P	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	108					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)															---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384141	21384141	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21384141G>A	uc002zud.2	-	3	1550	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	SLC7A4_uc002zue.2_Silent_p.C494C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	494	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800343	21800343	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21800343C>G	uc002zur.3	+	3	1389	c.1159C>G	c.(1159-1161)CCC>GCC	p.P387A	HIC2_uc002zus.3_Missense_Mutation_p.P387A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	387					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)																---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21991211	21991211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21991211T>C	uc002zve.2	+	5	1787	c.1694T>C	c.(1693-1695)ATG>ACG	p.M565T		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|skin(1)	2	Colorectal(54;0.105)																	---	---	---	---
PPM1F	9647	broad.mit.edu	37	22	22277457	22277457	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22277457G>A	uc002zvp.1	-	8					PPM1F_uc011aik.1_3'UTR	NM_014634	NP_055449			protein phosphatase 1F						apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22316889	22316889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22316889G>A	uc002zvs.2	-	13	1872	c.1437C>T	c.(1435-1437)GGC>GGT	p.G479G	TOP3B_uc010gtm.1_Silent_p.G24G|TOP3B_uc002zvr.2_Silent_p.G204G|TOP3B_uc010gtl.2_Silent_p.G479G|TOP3B_uc002zvt.3_Silent_p.G479G	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	479					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)														---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22385665	22385665	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22385665G>A	uc011aim.1	+	2		c.145G>A			uc002zvu.2_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22677192	22677192	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22677192C>T	uc011aim.1	+	36		c.3232C>T			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22730655	22730655	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22730655T>C	uc011aim.1	+	44		c.4822T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22735512	22735512	+	RNA	SNP	G	T	T	rs61731360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22735512G>T	uc011aim.1	+	46		c.5308G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22786500	22786500	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22786500C>T	uc011aim.1	+	67		c.6683C>T								Parts of antibodies, mostly variable regions.												0																OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22931038	22931038	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22931038G>T	uc011aim.1	+											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23011168	23011168	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23011168T>C	uc011aim.1	+	121		c.7854T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23264833	23264833	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23264833G>T	uc011aim.1	+	379		c.16654G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438549	23438549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23438549A>G	uc002zwu.1	+	2	1204	c.667A>G	c.(667-669)ATC>GTC	p.I223V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	223						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23465488	23465488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23465488G>A	uc002zwu.1	+	3	1475	c.938G>A	c.(937-939)CGC>CAC	p.R313H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	313						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23495329	23495329	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23495329G>A	uc002zwv.1	+						RAB36_uc010gtw.1_Intron	NM_004914	NP_004905			RAB36, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
BCR	613	broad.mit.edu	37	22	23540529	23540529	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23540529T>C	uc002zww.2	+						BCR_uc002zwx.2_Intron	NM_004327	NP_004318			breakpoint cluster region isoform 1						regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12								T	ABL1| FGFR1|JAK2 	CML|ALL|AML								---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24143232	24143232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24143232G>A	uc002zyb.2	+	4	671	c.464G>A	c.(463-465)CGC>CAC	p.R155H	SMARCB1_uc002zyg.2_Missense_Mutation_p.R155H|SMARCB1_uc011ajb.1_Missense_Mutation_p.R146H|SMARCB1_uc002zya.2_Missense_Mutation_p.R155H|SMARCB1_uc002zyc.2_Missense_Mutation_p.R146H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R146H|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	155	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)						D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24459471	24459471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24459471T>C	uc002zzi.1	+	14	1873	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	CABIN1_uc002zzj.1_Silent_p.P532P|CABIN1_uc002zzl.1_Silent_p.P582P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	582					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580778	24580778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580778T>C	uc002zzn.1	+	5	696	c.652T>C	c.(652-654)TAC>CAC	p.Y218H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	218	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580867	24580867	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580867T>C	uc002zzn.1	+	5	785	c.741T>C	c.(739-741)GGT>GGC	p.G247G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	247	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
CYTSA	23384	broad.mit.edu	37	22	24717913	24717913	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24717913T>C	uc002zzw.2	+	5	1272	c.965T>C	c.(964-966)GTG>GCG	p.V322A	CYTSA_uc002zzv.3_Missense_Mutation_p.V322A|CYTSA_uc011ajq.1_Missense_Mutation_p.V322A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	322					cell cycle|cell division						0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26070497	26070497	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26070497T>C	uc003abx.3	+	8	794	c.647_splice	c.e8+2	p.M216_splice	ADRBK2_uc010gux.2_Splice_Site_p.M216_splice|ADRBK2_uc003abw.2_Splice_Site_p.M103_splice|ADRBK2_uc003aby.3_Splice_Site	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26219495	26219495	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26219495T>A	uc003abz.1	+	13	2795	c.2545T>A	c.(2545-2547)TTT>ATT	p.F849I	MYO18B_uc003aca.1_Missense_Mutation_p.F730I|MYO18B_uc010guy.1_Missense_Mutation_p.F730I|MYO18B_uc010guz.1_Missense_Mutation_p.F730I|MYO18B_uc011aka.1_Missense_Mutation_p.F3I|MYO18B_uc011akb.1_Missense_Mutation_p.F362I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	849	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26860374	26860374	+	Missense_Mutation	SNP	C	T	T	rs143711674	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26860374C>T	uc003acl.2	-	11	1881	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	HPS4_uc003aci.2_Missense_Mutation_p.A403T|HPS4_uc003acj.2_Missense_Mutation_p.A272T|HPS4_uc003ack.2_Missense_Mutation_p.A199T|HPS4_uc003acn.2_Missense_Mutation_p.A254T|HPS4_uc010gvd.1_Missense_Mutation_p.A426T|HPS4_uc003ach.2_Missense_Mutation_p.A143T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	408					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														Hermansky-Pudlak_syndrome				---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28256181	28256181	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28256181G>T	uc003adk.2	-	9	659	c.583C>A	c.(583-585)CTG>ATG	p.L195M	PITPNB_uc011akh.1_Missense_Mutation_p.L197M|PITPNB_uc003adl.2_Missense_Mutation_p.L195M|PITPNB_uc011akg.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	195					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28293787	28293787	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28293787A>G	uc003adk.2	-	4	365	c.289_splice	c.e4+1	p.I97_splice	PITPNB_uc011akh.1_Splice_Site_p.I99_splice|PITPNB_uc003adl.2_Splice_Site_p.I97_splice	NM_012399	NP_036531			phosphatidylinositol transfer protein, beta						lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29141962	29141962	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29141962A>G	uc003aea.2	+	4	575	c.534A>G	c.(532-534)GAA>GAG	p.E178E		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	178					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1																		---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29193152	29193152	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29193152T>C	uc011akl.1	-	3	414	c.366A>G	c.(364-366)AAA>AAG	p.K122K	XBP1_uc003aec.2_5'Flank|XBP1_uc003aed.2_Silent_p.K72K|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	122	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445922	29445922	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29445922A>G	uc003aeg.2	+	8	1618	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	ZNRF3_uc003aeh.1_Missense_Mutation_p.T485A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	585	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29534823	29534823	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29534823T>C	uc011akm.1	+	7	1187	c.1174_splice	c.e7+2	p.G392_splice	KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Splice_Site_p.G275_splice	NM_032045	NP_114434			kringle-containing transmembrane protein 1						cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5																		---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29683072	29683072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29683072A>G	uc003aet.2	+	7	1070	c.742A>G	c.(742-744)AGC>GGC	p.S248G	EWSR1_uc003aes.3_Missense_Mutation_p.S248G|EWSR1_uc003aev.2_Missense_Mutation_p.S254G|EWSR1_uc003aew.2_Missense_Mutation_p.S192G|EWSR1_uc003aex.2_Missense_Mutation_p.S248G|EWSR1_uc003aey.2_Missense_Mutation_p.S43G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	248	28.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254								T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29735105	29735105	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29735105G>A	uc003afj.2	-	16	2221	c.2037C>T	c.(2035-2037)TTC>TTT	p.F679F	AP1B1_uc003afi.2_Silent_p.F672F|AP1B1_uc003afk.2_Silent_p.F672F|AP1B1_uc003afl.2_Silent_p.F672F|AP1B1_uc011ako.1_Silent_p.F232F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	679	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29921862	29921862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29921862T>C	uc003afr.2	-	13	1475	c.1140A>G	c.(1138-1140)ACA>ACG	p.T380T	THOC5_uc003afq.2_Silent_p.T41T|THOC5_uc003afs.2_Silent_p.T380T|THOC5_uc003aft.2_Silent_p.T380T|THOC5_uc003afu.2_Silent_p.T380T|THOC5_uc010gvo.2_Silent_p.T124T	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	380			T -> K (in a breast cancer sample; somatic mutation).		intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	p.T380K(1)		breast(3)	3																		---	---	---	---
NIPSNAP1	8508	broad.mit.edu	37	22	29957621	29957621	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29957621G>C	uc003afx.3	-	6	526	c.453C>G	c.(451-453)TTC>TTG	p.F151L	NIPSNAP1_uc011akp.1_Missense_Mutation_p.F131L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	151								p.?(1)		skin(1)	1																		---	---	---	---
NF2	4771	broad.mit.edu	37	22	30038225	30038225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30038225G>A	uc003age.3	+	4	841	c.398G>A	c.(397-399)TGC>TAC	p.C133Y	NF2_uc003afy.3_Missense_Mutation_p.C133Y|NF2_uc003afz.3_Missense_Mutation_p.C50Y|NF2_uc003agf.3_Missense_Mutation_p.C133Y|NF2_uc003agb.3_Missense_Mutation_p.C56Y|NF2_uc003agc.3_Missense_Mutation_p.C95Y|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.C133Y|NF2_uc003aga.3_Missense_Mutation_p.C91Y|NF2_uc003agh.3_Missense_Mutation_p.C92Y|NF2_uc003agi.3_Missense_Mutation_p.C50Y|NF2_uc003agj.3_Missense_Mutation_p.C133Y|NF2_uc003agk.3_Missense_Mutation_p.C95Y	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	133	FERM.		C -> R (in NF2).		actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.L127_D382del(1)|p.L127_P134del(1)|p.K123fs*2(1)|p.V110_L141del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728								D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185132	30185132	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30185132C>T	uc003agr.2	-	20	2249	c.2144G>A	c.(2143-2145)CGA>CAA	p.R715Q	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R715Q|ASCC2_uc011akr.1_Missense_Mutation_p.R639Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)															---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691001	30691001	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30691001G>A	uc011akt.1	-	5	592	c.568C>T	c.(568-570)CGG>TGG	p.R190W	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.R48W|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R102W|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R197W|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R190W	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	190	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30730630	30730630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30730630C>T	uc003ahl.2	-	16	2467	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	779	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30738209	30738209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30738209T>C	uc003ahl.2	-	6	989	c.857A>G	c.(856-858)GAC>GGC	p.D286G		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	286					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30781958	30781958	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30781958C>T	uc003ahp.2	-	4	522	c.522G>A	c.(520-522)CTG>CTA	p.L174L	RNF215_uc011akw.1_Silent_p.L79L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	174	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31091460	31091460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31091460G>A	uc003aiy.1	+	1	668	c.564G>A	c.(562-564)TGG>TGA	p.W188*	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Nonsense_Mutation_p.W188*|OSBP2_uc011alb.1_Nonsense_Mutation_p.W188*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.W188*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	188	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31285474	31285474	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31285474C>T	uc003aiy.1	+						OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Intron|OSBP2_uc003aja.1_Intron|OSBP2_uc011alc.1_Intron|OSBP2_uc003ajb.2_Intron|OSBP2_uc011ald.1_Intron|OSBP2_uc010gwd.1_Intron	NM_030758	NP_110385			oxysterol binding protein 2 isoform a						lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31328629	31328629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31328629C>T	uc003aje.1	-	24	3828	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	884							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31673000	31673000	+	Intron	SNP	C	T	T	rs12160336		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31673000C>T	uc003akh.2	+						LIMK2_uc003akg.2_Silent_p.D583D|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Silent_p.D645D|LIMK2_uc003akk.2_Intron|LIMK2_uc011aln.1_Intron	NM_005569	NP_005560			LIM domain kinase 2 isoform 2a							mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31998288	31998288	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31998288C>A	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
YWHAH	7533	broad.mit.edu	37	22	32352260	32352260	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32352260A>G	uc003alz.2	+	2	463	c.222A>G	c.(220-222)GGA>GGG	p.G74G	YWHAH_uc010gwl.2_Silent_p.G4G|YWHAH_uc003ama.2_Silent_p.G4G|YWHAH_uc010gwm.2_Silent_p.G61G	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	74					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1																		---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32616895	32616895	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32616895A>C	uc003ami.2	-							NM_014227	NP_055042			solute carrier family 5 (low affinity glucose						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0																		---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33733731	33733731	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33733731A>G	uc003and.3	-	11	1767	c.1188T>C	c.(1186-1188)TTT>TTC	p.F396F	LARGE_uc011amd.1_Silent_p.F195F|LARGE_uc003ane.3_Silent_p.F396F|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.F328F|LARGE_uc011amf.1_Silent_p.F396F|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	396	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35804510	35804510	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35804510G>A	uc003anu.3	+	6	800	c.706G>A	c.(706-708)GTC>ATC	p.V236I	MCM5_uc010gwr.2_Missense_Mutation_p.V45I|MCM5_uc003anv.3_Missense_Mutation_p.V193I|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	236					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1																		---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35947862	35947862	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35947862A>G	uc003anx.2	+	3	789	c.584A>G	c.(583-585)GAG>GGG	p.E195G	RASD2_uc003any.2_Missense_Mutation_p.E195G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	195	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36054697	36054697	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36054697A>T	uc003aoe.2	+	3	380	c.86A>T	c.(85-87)GAG>GTG	p.E29V	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	29					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36055239	36055239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36055239G>A	uc003aoe.2	+	3	922	c.628G>A	c.(628-630)GTC>ATC	p.V210I	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	210					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
RBM9	23543	broad.mit.edu	37	22	36140273	36140273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36140273G>A	uc003aon.3	-	14	1447	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RBM9_uc003aog.3_Silent_p.Y351Y|RBM9_uc003aol.3_Silent_p.Y370Y|RBM9_uc003aoj.3_Silent_p.Y374Y|RBM9_uc003aok.3_Missense_Mutation_p.T358I|RBM9_uc003aoh.3_Missense_Mutation_p.T361I|RBM9_uc003aom.3_Silent_p.Y352Y|RBM9_uc010gwu.2_Missense_Mutation_p.T361I|RBM9_uc003aoo.3_Silent_p.Y444Y	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	384					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
APOL2	23780	broad.mit.edu	37	22	36624003	36624003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36624003C>T	uc003aoz.2	-	5	797	c.461G>A	c.(460-462)GGT>GAT	p.G154D	APOL2_uc011amm.1_Missense_Mutation_p.G266D|APOL2_uc003apa.2_Missense_Mutation_p.G154D	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36692912	36692912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36692912C>T	uc003apg.2	-	25	3480	c.3249G>A	c.(3247-3249)GAG>GAA	p.E1083E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1083	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
FOXRED2	80020	broad.mit.edu	37	22	36902087	36902087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36902087T>C	uc003apn.3	-	1	491	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y128C|FOXRED2_uc003app.3_Missense_Mutation_p.Y128C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	128					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2																		---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603822	37603822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37603822T>C	uc003ara.2	-	2	83	c.21A>G	c.(19-21)TCA>TCG	p.S7S	SSTR3_uc003arb.2_Silent_p.S7S	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37695345	37695345	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37695345C>T	uc003arf.2	+	6	548	c.432C>T	c.(430-432)CTC>CTT	p.L144L	CYTH4_uc003are.2_Silent_p.L144L|CYTH4_uc011amw.1_Silent_p.L87L|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	144	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37707044	37707044	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37707044C>T	uc003arf.2	+	10	940	c.824C>T	c.(823-825)ACG>ATG	p.T275M	CYTH4_uc011amw.1_Missense_Mutation_p.T218M|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	275	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37708129	37708129	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37708129C>T	uc003arf.2	+	12	1142	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	CYTH4_uc011amw.1_Silent_p.D285D|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	342	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770240	37770240	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37770240A>G	uc003asq.3	-	3	2121	c.1335T>C	c.(1333-1335)GCT>GCC	p.A445A		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	445	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37771126	37771126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37771126C>T	uc003asq.3	-	3	1235	c.449G>A	c.(448-450)TGC>TAC	p.C150Y		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	150	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38046210	38046210	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38046210C>T	uc003ati.2	+	15	1479	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.A489V|SH3BP1_uc003ath.1_Silent_p.G456G|SH3BP1_uc003atj.1_Silent_p.G392G|SH3BP1_uc003atk.1_Silent_p.G370G|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	456	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130983	38130983	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38130983A>G	uc003atr.2	+	9	4911	c.4640A>G	c.(4639-4641)TAC>TGC	p.Y1547C	TRIOBP_uc003atu.2_Missense_Mutation_p.Y1375C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1547					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)															OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38484913	38484913	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38484913C>T	uc003auw.2	-	10	1104	c.960G>A	c.(958-960)CCG>CCA	p.P320P	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38493074	38493074	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38493074G>A	uc003auw.2	-	7	721	c.577C>T	c.(577-579)CTA>TTA	p.L193L		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	193	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38524328	38524328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38524328A>T	uc003auy.1	-	9	1432	c.1296T>A	c.(1294-1296)CAT>CAA	p.H432Q	PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.H432Q|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.H397Q	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	432					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)													---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38689315	38689315	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38689315G>A	uc003avj.2	-	10	1490	c.1229C>T	c.(1228-1230)CCA>CTA	p.P410L	CSNK1E_uc003avk.2_Missense_Mutation_p.P410L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.P410L|CSNK1E_uc003avn.1_Missense_Mutation_p.P94L|CSNK1E_uc003avo.2_Missense_Mutation_p.P410L	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	410					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)																	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38824086	38824086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38824086G>A	uc003avs.1	-	2	149	c.52C>T	c.(52-54)CGC>TGC	p.R18C	KCNJ4_uc003avt.1_Missense_Mutation_p.R18C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	18	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)																	---	---	---	---
APOBEC3B	9582	broad.mit.edu	37	22	39382383	39382383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39382383G>A	uc003awo.1	+	4	589	c.535G>A	c.(535-537)GCA>ACA	p.A179T	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.A179T|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	179					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)																	---	---	---	---
APOBEC3G	60489	broad.mit.edu	37	22	39482481	39482481	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39482481T>C	uc003awx.2	+	6	1275	c.933T>C	c.(931-933)ACT>ACC	p.T311T	APOBEC3G_uc003awy.2_Silent_p.T244T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	311					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)																	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39715086	39715086	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39715086T>A	uc003axi.2	-						RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_Intron|RPL3_uc011aoj.1_Intron|SNORD43_uc003axn.1_RNA	NM_000967	NP_000958			ribosomal protein L3 isoform a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39907986	39907986	+	Missense_Mutation	SNP	C	T	T	rs144526373		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39907986C>T	uc003axx.2	+	4	775	c.277C>T	c.(277-279)CGG>TGG	p.R93W	SMCR7L_uc003axw.2_Missense_Mutation_p.R93W|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	93						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39910325	39910325	+	Silent	SNP	G	A	A	rs142355530		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39910325G>A	uc003axx.2	+	6	1887	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	SMCR7L_uc003axw.2_Intron|SMCR7L_uc003axy.2_Silent_p.T285T	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	463						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)															OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40055777	40055777	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40055777T>C	uc003ayc.2	+	14	2524	c.2524T>C	c.(2524-2526)TTT>CTT	p.F842L	CACNA1I_uc003ayd.2_Missense_Mutation_p.F807L|CACNA1I_uc003aye.2_Missense_Mutation_p.F757L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F722L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	842	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40061520	40061520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40061520C>T	uc003ayc.2	+	22	3869	c.3869C>T	c.(3868-3870)CCG>CTG	p.P1290L	CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255L|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205L|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1290	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40661413	40661413	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40661413A>T	uc011aor.1	+	5	1390	c.1179A>T	c.(1177-1179)GGA>GGT	p.G393G	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.G393G|TNRC6B_uc003ayo.2_Silent_p.G197G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	393					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40711435	40711435	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40711435A>G	uc011aor.1	+	20	5038	c.4827A>G	c.(4825-4827)AAA>AAG	p.K1609K	TNRC6B_uc003aym.2_Silent_p.K805K|TNRC6B_uc003ayn.3_Silent_p.K1499K|TNRC6B_uc003ayo.2_Silent_p.K1356K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1609					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
ADSL	158	broad.mit.edu	37	22	40746002	40746002	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40746002A>G	uc003ayp.3	+	2	379	c.320A>G	c.(319-321)CAC>CGC	p.H107R	ADSL_uc003ays.3_Missense_Mutation_p.H107R|ADSL_uc003ayq.3_Missense_Mutation_p.H107R|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H107R	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	107					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1																		---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077411	41077411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41077411T>C	uc003ayz.2	+	2	1016	c.748T>C	c.(748-750)TAT>CAT	p.Y250H	MCHR1_uc003aza.2_Missense_Mutation_p.Y139H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	250	Helical; Name=4; (Potential).		Y -> H.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0																		---	---	---	---
ST13	6767	broad.mit.edu	37	22	41226881	41226881	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41226881A>T	uc003aze.2	-	9	904	c.761T>A	c.(760-762)GTT>GAT	p.V254D	ST13_uc011aow.1_Missense_Mutation_p.V244D	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	254							protein binding, bridging				0																		---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41645453	41645453	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41645453A>G	uc003azs.2	-	14	3045	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	RANGAP1_uc003azt.2_Silent_p.S525S|RANGAP1_uc003azu.2_Silent_p.S525S|RANGAP1_uc003azr.2_Silent_p.S38S|RANGAP1_uc010gyk.2_Silent_p.S28S|RANGAP1_uc011aoz.1_Silent_p.S470S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	525	SUMO conjugation.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0																		---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41745258	41745258	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41745258C>T	uc003azw.2	+	16	2117	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650	C3H1-type 2.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
TOB2	10766	broad.mit.edu	37	22	41833079	41833079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41833079T>C	uc003azz.1	-	2	978	c.271A>G	c.(271-273)AGT>GGT	p.S91G		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	91					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42059831	42059831	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42059831G>A	uc003bao.1	+	13					XRCC6_uc003bap.1_3'UTR|XRCC6_uc011apc.1_3'UTR|XRCC6_uc003baq.1_3'UTR|XRCC6_uc003bar.1_3'UTR|XRCC6_uc003bas.1_3'UTR	NM_001469	NP_001460			ATP-dependent DNA helicase II, 70 kDa subunit						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5													Direct_reversal_of_damage|NHEJ					---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262990	42262990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42262990G>A	uc003bbi.2	+	2	413	c.244G>A	c.(244-246)GGA>AGA	p.G82R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	82	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42269866	42269866	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42269866T>C	uc003bbi.2	+	5	1101	c.932T>C	c.(931-933)GTG>GCG	p.V311A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	311	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42294789	42294789	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42294789C>T	uc003bbi.2	+						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_Intron|uc011api.1_5'Flank|MIR33A_hsa-mir-33a|MI0000091_5'Flank	NM_004599	NP_004590			sterol regulatory element-binding transcription						cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
NFAM1	150372	broad.mit.edu	37	22	42807623	42807623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0																		---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42969952	42969952	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42969952T>C	uc003bcr.2	+	12	938	c.836T>C	c.(835-837)TTT>TCT	p.F279S	SERHL2_uc010gyz.2_Missense_Mutation_p.F215S|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron|RRP7B_uc003bct.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	279						perinuclear region of cytoplasm|peroxisome	hydrolase activity				0																		---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43023656	43023656	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43023656T>A	uc003bcz.2	-	6	586	c.502A>T	c.(502-504)ATC>TTC	p.I168F	CYB5R3_uc010gzc.1_Missense_Mutation_p.I42F|CYB5R3_uc003bcw.2_Missense_Mutation_p.I158F|CYB5R3_uc011aps.1_Missense_Mutation_p.I201F|CYB5R3_uc003bcy.2_Missense_Mutation_p.I145F|CYB5R3_uc003bcx.2_Missense_Mutation_p.I145F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)													---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43286998	43286998	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43286998G>A	uc010gzg.2	-	4	630	c.408C>T	c.(406-408)GAC>GAT	p.D136D	PACSIN2_uc003bdg.3_Silent_p.D136D|PACSIN2_uc003bde.3_Silent_p.D136D|PACSIN2_uc003bdf.3_Silent_p.D136D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	136					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)																---	---	---	---
MCAT	27349	broad.mit.edu	37	22	43533210	43533210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43533210G>A	uc003bdl.1	-	3	655	c.606C>T	c.(604-606)TCC>TCT	p.S202S	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	202					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)														OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950910	43950910	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950910C>T	uc003bdy.1	-	27	3702	c.3487G>A	c.(3487-3489)GAC>AAC	p.D1163N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D389N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950972	43950972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950972G>A	uc003bdy.1	-	27	3640	c.3425C>T	c.(3424-3426)GCT>GTT	p.A1142V	EFCAB6_uc003bdz.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzj.1_Missense_Mutation_p.A368V	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950974	43950974	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950974T>G	uc003bdy.1	-	27	3638	c.3423A>C	c.(3421-3423)ACA>ACC	p.T1141T	EFCAB6_uc003bdz.1_Silent_p.T989T|EFCAB6_uc010gzi.1_Silent_p.T989T|EFCAB6_uc010gzj.1_Silent_p.T367T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
SAMM50	25813	broad.mit.edu	37	22	44373776	44373776	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44373776G>T	uc003bej.2	+	10	1071	c.874G>T	c.(874-876)GAT>TAT	p.D292Y	SAMM50_uc011aqd.1_Missense_Mutation_p.D82Y|SAMM50_uc003bek.2_Missense_Mutation_p.D97Y	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	292					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)																---	---	---	---
C22orf9	23313	broad.mit.edu	37	22	45598993	45598993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45598993G>A	uc003bfx.1	-	7	796	c.730C>T	c.(730-732)CGC>TGC	p.R244C	C22orf9_uc010gzw.1_Missense_Mutation_p.R96C|C22orf9_uc003bfv.1_Missense_Mutation_p.R253C|C22orf9_uc003bfw.1_Missense_Mutation_p.R249C|C22orf9_uc010gzx.2_Missense_Mutation_p.R226C|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	244							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)														---	---	---	---
FAM118A	55007	broad.mit.edu	37	22	45728581	45728581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45728581G>A	uc003bfz.3	+	7	1543	c.927G>A	c.(925-927)CAG>CAA	p.Q309Q	FAM118A_uc003bga.3_Silent_p.Q309Q|FAM118A_uc011aqr.1_Silent_p.Q127Q	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	309						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655545	46655545	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655545A>T	uc003bhh.2	-	1	3675	c.3675T>A	c.(3673-3675)GAT>GAA	p.D1225E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1225	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655740	46655740	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655740C>A	uc003bhh.2	-	1	3480	c.3480G>T	c.(3478-3480)ATG>ATT	p.M1160I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1160	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46712215	46712215	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46712215T>C	uc011aqy.1	+	7	1550	c.1338T>C	c.(1336-1338)ACT>ACC	p.T446T	GTSE1_uc011aqz.1_Silent_p.T293T|GTSE1_uc003bhl.1_Silent_p.T71T|GTSE1_uc003bhm.1_Silent_p.T71T	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	427					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46719117	46719117	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46719117T>G	uc011aqy.1	+	8	1675	c.1463T>G	c.(1462-1464)CTT>CGT	p.L488R	GTSE1_uc011aqz.1_Missense_Mutation_p.L335R|GTSE1_uc003bhl.1_Missense_Mutation_p.L113R|GTSE1_uc003bhm.1_Missense_Mutation_p.L113R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	469					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46929687	46929687	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46929687G>T	uc003bhw.1	-	1	3381	c.3381C>A	c.(3379-3381)ATC>ATA	p.I1127I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1127	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47071445	47071445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47071445A>G	uc003bhx.2	+	16	1598	c.1559A>G	c.(1558-1560)CAG>CGG	p.Q520R	GRAMD4_uc010had.2_Missense_Mutation_p.Q459R|GRAMD4_uc003bhy.2_Missense_Mutation_p.Q43R	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	520	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)														---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086049	47086049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086049T>C	uc003bia.2	-	12	1488	c.1381A>G	c.(1381-1383)ACG>GCG	p.T461A	CERK_uc010hae.2_Missense_Mutation_p.T263A	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	461					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47189568	47189568	+	Missense_Mutation	SNP	C	T	T	rs141580250	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47189568C>T	uc003bib.2	+	3	425	c.290C>T	c.(289-291)ACG>ATG	p.T97M	TBC1D22A_uc010haf.2_Missense_Mutation_p.T67M|TBC1D22A_uc003bic.2_Missense_Mutation_p.T97M|TBC1D22A_uc003bie.2_Missense_Mutation_p.T78M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T50M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	97						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47507445	47507445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47507445C>T	uc003bib.2	+	12	1506	c.1371C>T	c.(1369-1371)TGC>TGT	p.C457C	TBC1D22A_uc010haf.2_Silent_p.C427C|TBC1D22A_uc003bic.2_Silent_p.C398C|TBC1D22A_uc003bie.2_Silent_p.C379C|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.C410C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	457						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50280486	50280486	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50280486C>T	uc003bix.2	+	2	3646	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1059						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50298028	50298028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50298028G>A	uc003biy.2	-	8	1393	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	373					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50313888	50313888	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50313888C>T	uc003bja.2	+	4	543	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Silent_p.D136D|CRELD2_uc010haj.2_Silent_p.D136D|CRELD2_uc010hal.2_Silent_p.D136D|CRELD2_uc010hak.2_Silent_p.D136D|CRELD2_uc010ham.2_Silent_p.D136D	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	136	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50437776	50437776	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50437776T>G	uc003bje.1	-	9	779	c.547_splice	c.e9-1	p.G183_splice		NM_001001694	NP_001001694			interleukin 17 receptor E-like											pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50599130	50599130	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50599130A>G	uc003bjj.2	+	25	3421	c.3338A>G	c.(3337-3339)GAA>GGA	p.E1113G	MOV10L1_uc003bjk.3_Intron|MOV10L1_uc011arp.1_Missense_Mutation_p.E1093G|MOV10L1_uc003bjl.2_Missense_Mutation_p.E240G	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1113					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50693732	50693732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50693732C>T	uc003bkm.1	-	11	1069	c.918G>A	c.(916-918)CTG>CTA	p.L306L	MAPK12_uc003bkn.2_Silent_p.L125L|MAPK12_uc003bko.2_Silent_p.L216L|MAPK12_uc003bkl.1_Silent_p.L296L|MAPK12_uc003bkp.2_Silent_p.L91L|MAPK12_uc003bkq.2_Silent_p.L125L	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	306	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50722592	50722592	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50722592A>G	uc003bkv.3	-	13	2338	c.2232T>C	c.(2230-2232)TCT>TCC	p.S744S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	744	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
SAPS2	9701	broad.mit.edu	37	22	50878428	50878428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50878428C>T	uc003blb.1	+	22	2746	c.2324C>T	c.(2323-2325)ACA>ATA	p.T775I	SAPS2_uc003bky.1_Missense_Mutation_p.T749I|SAPS2_uc003bkz.1_Missense_Mutation_p.T748I|SAPS2_uc003blc.2_Missense_Mutation_p.T775I|SAPS2_uc003bla.1_Missense_Mutation_p.T749I|SAPS2_uc003bld.1_Missense_Mutation_p.T308I	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	775						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)														---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50906356	50906356	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50906356C>T	uc003blh.2	-						SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Intron	NM_002972	NP_002963			SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLCXD1	55344	broad.mit.edu	37	X	209792	209792	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:209792C>T	uc004cpc.2	+	6	952	c.640C>T	c.(640-642)CTG>TTG	p.L214L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	302119	302119	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:302119C>G	uc004cpg.2	-	9	1299	c.1098G>C	c.(1096-1098)GTG>GTC	p.V366V	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	366					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	306303	306303	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:306303C>T	uc004cpg.2	-	7	1185	c.984G>A	c.(982-984)ACG>ACA	p.T328T	PPP2R3B_uc011mha.1_Silent_p.T167T	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	328					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1428459	1428459	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1428459A>G	uc010nct.2	+	14					CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_3'UTR|CSF2RA_uc004cpo.2_3'UTR|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_3'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.I371V|CSF2RA_uc010ncv.2_3'UTR|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155001			colony stimulating factor 2 receptor alpha chain							extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1471268	1471268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1471268G>A	uc004cps.2	+	6	834	c.485G>A	c.(484-486)CGT>CAT	p.R162H	IL3RA_uc011mhd.1_Missense_Mutation_p.R84H	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1505571G>A	uc004cpt.2	-	4	917	c.821C>T	c.(820-822)GCG>GTG	p.A274V	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	274	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)													---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1508486	1508486	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1508486G>T	uc004cpt.2	-	2	342	c.246C>A	c.(244-246)TTC>TTA	p.F82L	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	82	Solcar 1.|Helical; Name=2; (By similarity).				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)													---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1522303	1522303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1522303G>A	uc004cpx.1	-	13	1836	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.N499N|ASMTL_uc004cpy.1_Silent_p.N559N|ASMTL_uc011mhf.1_Silent_p.N517N	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	575	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540689	1540689	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540689G>A	uc004cpx.1	-	9	1218	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	ASMTL_uc011mhe.1_Silent_p.G293G|ASMTL_uc004cpy.1_Silent_p.G353G|ASMTL_uc011mhf.1_Silent_p.G311G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	369	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540734	1540734	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540734A>G	uc004cpx.1	-	9	1173	c.1062T>C	c.(1060-1062)GGT>GGC	p.G354G	ASMTL_uc011mhe.1_Silent_p.G278G|ASMTL_uc004cpy.1_Silent_p.G338G|ASMTL_uc011mhf.1_Silent_p.G296G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	354	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1553912	1553912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1553912T>C	uc004cpx.1	-						ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Intron	NM_004192	NP_004183			acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584391	1584391	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1584391C>A	uc004cpz.2	-	2	1309	c.1061G>T	c.(1060-1062)AGG>ATG	p.R354M		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	354	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585104	1585104	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1585104A>G	uc004cpz.2	-	2	596	c.348T>C	c.(346-348)TGT>TGC	p.C116C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	116	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
SFRS17A	8227	broad.mit.edu	37	X	1712482	1712482	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1712482G>A	uc004cqa.2	+	2	323	c.127G>A	c.(127-129)GGG>AGG	p.G43R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G43R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	43					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2161159	2161159	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2161159C>T	uc004cqf.3	-	6	758	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	237							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408217	2408217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408217C>T	uc004cqg.2	-	2	745	c.544G>A	c.(544-546)GAG>AAG	p.E182K	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E182K	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408366	2408366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408366C>T	uc004cqg.2	-	2	596	c.395G>A	c.(394-396)GGC>GAC	p.G132D	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.G132D	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	132						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2856150	2856150	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2856150C>T	uc004crc.3	-	9	1525	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	ARSE_uc011mhi.1_Silent_p.E371E|ARSE_uc011mhh.1_Silent_p.E450E	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	425					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2861128	2861128	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2861128A>T	uc004crc.3	-	8	1354	c.1104T>A	c.(1102-1104)GGT>GGA	p.G368G	ARSE_uc011mhi.1_Silent_p.G314G|ARSE_uc011mhh.1_Silent_p.G393G	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	368					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3229042	3229042	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3229042C>T	uc004crg.3	-	7	7359	c.7202G>A	c.(7201-7203)GGC>GAC	p.G2401D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2401	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239357	3239357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239357T>C	uc004crg.3	-	5	4526	c.4369A>G	c.(4369-4371)ACC>GCC	p.T1457A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1457						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239946	3239946	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239946A>T	uc004crg.3	-	5	3937	c.3780T>A	c.(3778-3780)TCT>TCA	p.S1260S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1260						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240584	3240584	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3240584G>T	uc004crg.3	-	5	3299	c.3142C>A	c.(3142-3144)CTA>ATA	p.L1048I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1048						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811353	5811353	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811353G>T	uc010ndh.2	-	6	2457	c.1956C>A	c.(1954-1956)GAC>GAA	p.D652E	NLGN4X_uc004crp.2_Missense_Mutation_p.D672E|NLGN4X_uc004crq.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D689E|NLGN4X_uc004crr.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D652E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	652	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5827247	5827247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5827247C>T	uc010ndh.2	-	4	1160	c.659G>A	c.(658-660)GGC>GAC	p.G220D	NLGN4X_uc004crp.2_Missense_Mutation_p.G240D|NLGN4X_uc004crq.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G257D|NLGN4X_uc004crr.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G220D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	220	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10058909	10058909	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10058909C>T	uc004csx.3	+	6	674	c.476C>T	c.(475-477)ACA>ATA	p.T159I	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	159										ovary(4)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10077876	10077876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10077876G>A	uc004csx.3	+	9	988	c.790G>A	c.(790-792)GCC>ACC	p.A264T	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4																		---	---	---	---
MID1	4281	broad.mit.edu	37	X	10437780	10437780	+	Silent	SNP	G	A	A	rs142718564	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10437780G>A	uc004cte.3	-	7	1433	c.1242C>T	c.(1240-1242)TAC>TAT	p.Y414Y	MID1_uc004ctd.3_Silent_p.Y125Y|MID1_uc004ctg.3_Silent_p.Y414Y|MID1_uc004cth.3_Silent_p.Y376Y|MID1_uc004ctk.3_Silent_p.Y414Y|MID1_uc004cti.3_Silent_p.Y414Y|MID1_uc004ctj.3_Silent_p.Y414Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.Y465Y|MID1_uc004ctn.1_Silent_p.Y414Y|MID1_uc004cto.1_Silent_p.Y376Y|MID1_uc004csz.3_Silent_p.Y86Y|MID1_uc004cta.3_Silent_p.Y170Y|MID1_uc004ctb.3_Silent_p.Y74Y|MID1_uc004ctc.3_Silent_p.Y181Y|MID1_uc004ctl.1_Silent_p.Y170Y	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	414	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11157336	11157336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11157336C>T	uc004cup.1	-	13	3445	c.2572G>A	c.(2572-2574)GGG>AGG	p.G858R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G655R|ARHGAP6_uc004cun.1_Missense_Mutation_p.G678R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	858					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12734369	12734369	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12734369A>G	uc004cuz.1	+	15	2297	c.1791A>G	c.(1789-1791)ATA>ATG	p.I597M	FRMPD4_uc011mij.1_Missense_Mutation_p.I589M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	597					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12736059	12736059	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12736059A>G	uc004cuz.1	+	16	3620	c.3114A>G	c.(3112-3114)GCA>GCG	p.A1038A	FRMPD4_uc011mij.1_Silent_p.A1030A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12903718	12903718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12903718C>T	uc004cvc.2	+	3	230	c.91C>T	c.(91-93)CCT>TCT	p.P31S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	31	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12904491	12904491	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12904491G>A	uc004cvc.2	+	3	1003	c.864G>A	c.(862-864)GCG>GCA	p.A288A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	288	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937960	12937960	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12937960C>T	uc004cve.2	+	2	869	c.801C>T	c.(799-801)TGC>TGT	p.C267C	TLR8_uc004cvd.2_Silent_p.C285C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	267	Extracellular (Potential).|LRR 6.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337200	13337200	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337200T>A	uc010ned.2	-	1	1319	c.854A>T	c.(853-855)GAC>GTC	p.D285V		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	285					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337424	13337424	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337424T>C	uc010ned.2	-	1	1095	c.630A>G	c.(628-630)GAA>GAG	p.E210E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	210					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13624572	13624572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13624572T>C	uc004cvi.2	+	6	835	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	EGFL6_uc004cvj.2_Missense_Mutation_p.Y199H|EGFL6_uc011mik.1_Missense_Mutation_p.Y100H	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645222	13645222	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645222A>C	uc004cvi.2	+	11	1618	c.1378A>C	c.(1378-1380)AGC>CGC	p.S460R	EGFL6_uc004cvj.2_Missense_Mutation_p.S461R	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	460	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13753379	13753379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13753379A>G	uc004cvp.3	+	2	384	c.25A>G	c.(25-27)ACC>GCC	p.T9A	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.T8A|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.T8A|OFD1_uc004cvv.3_Missense_Mutation_p.T8A|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	9					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0																		---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14871245	14871245	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14871245A>C	uc004cwg.1	-	6	1510	c.1242T>G	c.(1240-1242)CTT>CTG	p.L414L	FANCB_uc004cwh.1_Silent_p.L414L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	414					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15270368	15270368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15270368A>G	uc004cwl.2	-						ASB9_uc004cwk.2_Intron|ASB9_uc004cwm.2_Intron|ASB9_uc010ner.2_Intron|ASB9_uc004cwn.2_Intron	NM_001031739	NP_001026909			ankyrin repeat and SOCS box-containing 9 isoform						intracellular signal transduction						0	Hepatocellular(33;0.183)																	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15306011	15306011	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15306011A>G	uc004cwp.1	-	6	839	c.839T>C	c.(838-840)CTC>CCC	p.L280P	ASB11_uc004cwo.1_Missense_Mutation_p.L259P|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L263P	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	280	SOCS box.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15540632	15540632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15540632G>A	uc004cww.2	+	7	862	c.674G>A	c.(673-675)GGC>GAC	p.G225D	BMX_uc004cwx.3_Missense_Mutation_p.G225D|BMX_uc004cwy.3_Missense_Mutation_p.G225D	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	225					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15560311	15560311	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15560311A>G	uc004cww.2	+	15	1789	c.1601A>G	c.(1600-1602)CAC>CGC	p.H534R	BMX_uc004cwx.3_Missense_Mutation_p.H534R|BMX_uc004cwy.3_Missense_Mutation_p.H534R	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	534	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16168543	16168543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16168543G>A	uc004cxj.2	+	2	1182	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	177	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)																	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16709660	16709660	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16709660A>G	uc004cxk.2	-						CTPS2_uc004cxl.2_Intron|CTPS2_uc004cxm.2_Intron	NM_001144002	NP_001137474			cytidine triphosphate synthase II						glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)																	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16846369	16846369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16846369T>C	uc004cxq.1	+	4	702	c.651T>C	c.(649-651)CGT>CGC	p.R217R	TXLNG_uc010ney.1_Silent_p.R85R	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	217	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16857989	16857989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16857989C>T	uc004cxq.1	+	9	1249	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	TXLNG_uc010ney.1_Missense_Mutation_p.R268C	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	400	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17092287	17092287	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17092287T>G	uc004cxv.1	+						REPS2_uc004cxw.1_Intron|REPS2_uc011miw.1_Intron	NM_004726	NP_004717			RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17156996	17156996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17156996A>G	uc004cxv.1	+	17	1997	c.1826A>G	c.(1825-1827)AAG>AGG	p.K609R	REPS2_uc004cxw.1_Missense_Mutation_p.K608R|REPS2_uc011miw.1_Missense_Mutation_p.K407R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	609	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17742447	17742447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17742447A>G	uc004cxx.2	+	5	1412	c.1074A>G	c.(1072-1074)ATA>ATG	p.I358M	NHS_uc011mix.1_Missense_Mutation_p.I379M|NHS_uc004cxy.2_Missense_Mutation_p.I202M|NHS_uc004cxz.2_Missense_Mutation_p.I181M|NHS_uc004cya.2_Missense_Mutation_p.I81M	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	358						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
SCML1	6322	broad.mit.edu	37	X	17768146	17768146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17768146C>T	uc004cyb.2	+	6	761	c.436C>T	c.(436-438)CGT>TGT	p.R146C	SCML1_uc004cyc.2_Missense_Mutation_p.R119C|SCML1_uc004cyd.2_Missense_Mutation_p.R25C|SCML1_uc004cye.2_Missense_Mutation_p.R25C	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	146					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18213471	18213471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18213471T>C	uc004cyj.3	-	7	1279	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18260691	18260691	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18260691T>C	uc004cyl.2	-	14	1999	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	614					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264788	18264788	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264788C>G	uc004cyl.2	-	13	1888	c.1731G>C	c.(1729-1731)GTG>GTC	p.V577V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.V577V|SCML2_uc011miz.1_Silent_p.V511V|SCML2_uc010nfc.2_Silent_p.V313V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264789	18264789	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264789A>G	uc004cyl.2	-	13	1887	c.1730T>C	c.(1729-1731)GTG>GCG	p.V577A	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.V577A|SCML2_uc011miz.1_Missense_Mutation_p.V511A|SCML2_uc010nfc.2_Missense_Mutation_p.V313A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18646626	18646626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18646626C>T	uc004cym.2	+	18	2885	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S	CDKL5_uc004cyn.2_Missense_Mutation_p.P878S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	878					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)																	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18836180	18836180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18836180C>A	uc004cyq.2	+	16	1899	c.1418C>A	c.(1417-1419)GCC>GAC	p.A473D	PPEF1_uc004cyp.2_Missense_Mutation_p.A445D|PPEF1_uc004cyr.2_Missense_Mutation_p.A411D|PPEF1_uc004cys.2_Missense_Mutation_p.A473D|PPEF1_uc011mja.1_Missense_Mutation_p.A408D|PPEF1_uc011mjb.1_Missense_Mutation_p.A417D	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	473					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18912463	18912463	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18912463C>T	uc004cyv.3	-	32	3826	c.3396G>A	c.(3394-3396)CCG>CCA	p.P1132P	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.P438P|PHKA2_uc010nfe.1_Silent_p.P164P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1132					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18961916	18961916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18961916T>C	uc004cyv.3	-	7	1059	c.629A>G	c.(628-630)GAG>GGG	p.E210G	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	210					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19413307	19413307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19413307C>T	uc004czk.1	-	17	2148	c.511G>A	c.(511-513)GAG>AAG	p.E171K	MAP3K15_uc004czj.1_Missense_Mutation_p.E131K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	696	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675116	21675116	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675116C>T	uc004czz.1	-	1	1333	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	264										ovary(1)	1																		---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675792	21675792	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675792C>T	uc004czz.1	-	1	657	c.115G>A	c.(115-117)GAA>AAA	p.E39K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	39	BTB.									ovary(1)	1																		---	---	---	---
YY2	404281	broad.mit.edu	37	X	21863457	21863457	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21863457T>A	uc010nfq.2	+	3	590	c.393T>A	c.(391-393)TCT>TCA	p.S131S	MBTPS2_uc004dae.2_Silent_p.S131S|MBTPS2_uc004dab.2_Silent_p.S131S	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
SMS	6611	broad.mit.edu	37	X	21985316	21985316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21985316G>A	uc004dag.2	+	2	153	c.52G>A	c.(52-54)GAT>AAT	p.D18N	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.D18N	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	18					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
SMS	6611	broad.mit.edu	37	X	22012435	22012435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22012435T>C	uc004dag.2	+	11	1168	c.1067T>C	c.(1066-1068)GTA>GCA	p.V356A	SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Missense_Mutation_p.Y68H	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	356					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291585	22291585	+	Silent	SNP	G	A	A	rs144357703		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22291585G>A	uc004dai.1	+	1	526	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159						intracellular	zinc ion binding			lung(1)|pancreas(1)	2																		---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018527	23018527	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23018527G>A	uc004daj.2	+	1	441	c.353G>A	c.(352-354)AGC>AAC	p.S118N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3																		---	---	---	---
APOO	79135	broad.mit.edu	37	X	23876803	23876803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23876803C>T	uc004dax.2	-	6	667	c.436G>A	c.(436-438)GCT>ACT	p.A146T	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	146					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0																		---	---	---	---
CXorf58	254158	broad.mit.edu	37	X	23933870	23933870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23933870G>T	uc004daz.1	+	4	614	c.270G>T	c.(268-270)AAG>AAT	p.K90N	CXorf58_uc011mju.1_Missense_Mutation_p.K90N	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	90											0																		---	---	---	---
KLHL15	80311	broad.mit.edu	37	X	24006408	24006408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24006408T>G	uc004dba.3	-	4	1701	c.1445A>C	c.(1444-1446)AAG>ACG	p.K482T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	482										ovary(1)|breast(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	24326403	24326403	+	IGR	SNP	T	C	C	rs112676860		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24326403T>C								ZFX (93776 upstream) : FAM48B2 (2577 downstream)																																			---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24521631	24521631	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24521631A>T	uc004dbg.2	+						PDK3_uc004dbh.2_Intron	NM_005391	NP_005382			pyruvate dehydrogenase kinase 3 isoform 2						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6																		---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24759545	24759545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24759545T>C	uc004dbl.2	+	21	2275	c.2252T>C	c.(2251-2253)TTC>TCC	p.F751S		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	751					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)													---	---	---	---
Unknown	0	broad.mit.edu	37	X	26179730	26179730	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179730A>G								MAGEB18 (20878 upstream) : MAGEB6 (30827 downstream)																																			---	---	---	---
MAGEB10	139422	broad.mit.edu	37	X	27840426	27840426	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:27840426C>T	uc004dbw.2	+	3	1230	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	335										lung(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
MAGEB3	4114	broad.mit.edu	37	X	30254423	30254423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30254423A>T	uc004dca.1	+	5	1119	c.382A>T	c.(382-384)ATG>TTG	p.M128L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	128	MAGE.										0																		---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30322917	30322917	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30322917T>C	uc004dcf.3	-	2	1207	c.1192A>G	c.(1192-1194)AAG>GAG	p.K398E		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	398	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)													---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30327194	30327194	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30327194G>A	uc004dcf.3	-	1	302	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	96	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GK	2710	broad.mit.edu	37	X	30686200	30686200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30686200T>C	uc004dch.3	+	3	403	c.224T>C	c.(223-225)CTT>CCT	p.L75P	GK_uc010ngj.2_Missense_Mutation_p.L75P|GK_uc004dci.3_Missense_Mutation_p.L75P|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	75					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1																		---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30849565	30849565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30849565G>A	uc004dcj.2	-	11	2781	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TAB3_uc004dck.2_Silent_p.C706C|TAB3_uc010ngl.2_Silent_p.C678C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	706	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31165402	31165402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31165402A>G	uc004dda.1	-	75	11031	c.10787T>C	c.(10786-10788)CTG>CCG	p.L3596P	DMD_uc004dcq.1_Missense_Mutation_p.L867P|DMD_uc004dcr.1_Missense_Mutation_p.L1016P|DMD_uc004dcs.1_Missense_Mutation_p.L1026P|DMD_uc004dct.1_Missense_Mutation_p.L1136P|DMD_uc004dcu.1_Missense_Mutation_p.L1136P|DMD_uc004dcv.1_Missense_Mutation_p.L1123P|DMD_uc004dcw.2_Missense_Mutation_p.L2252P|DMD_uc004dcx.2_Missense_Mutation_p.L2255P|DMD_uc004dcz.2_Missense_Mutation_p.L3473P|DMD_uc004dcy.1_Missense_Mutation_p.L3592P|DMD_uc004ddb.1_Missense_Mutation_p.L3588P|DMD_uc004dcm.1_Missense_Mutation_p.L528P|DMD_uc004dcn.1_Missense_Mutation_p.L515P|DMD_uc004dco.1_Missense_Mutation_p.L528P|DMD_uc004dcp.1_Missense_Mutation_p.L515P|DMD_uc011mkb.1_Missense_Mutation_p.L418P	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3596					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	31196845	31196845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31196845C>T	uc004dda.1	-	70	10408	c.10164G>A	c.(10162-10164)AAG>AAA	p.K3388K	DMD_uc004dcq.1_Silent_p.K659K|DMD_uc004dcr.1_Silent_p.K928K|DMD_uc004dcs.1_Silent_p.K928K|DMD_uc004dct.1_Silent_p.K928K|DMD_uc004dcu.1_Silent_p.K928K|DMD_uc004dcv.1_Silent_p.K928K|DMD_uc004dcw.2_Silent_p.K2044K|DMD_uc004dcx.2_Silent_p.K2047K|DMD_uc004dcz.2_Silent_p.K3265K|DMD_uc004dcy.1_Silent_p.K3384K|DMD_uc004ddb.1_Silent_p.K3380K|DMD_uc004dcm.1_Silent_p.K320K|DMD_uc004dcn.1_Silent_p.K320K|DMD_uc004dco.1_Silent_p.K320K|DMD_uc004dcp.1_Silent_p.K320K|DMD_uc011mkb.1_Silent_p.K320K|DMD_uc010ngm.2_Silent_p.K320K	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3388	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32398784	32398784	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32398784T>A	uc004dda.1	-	34	4932	c.4688A>T	c.(4687-4689)AAG>ATG	p.K1563M	DMD_uc004dcw.2_Missense_Mutation_p.K219M|DMD_uc004dcx.2_Missense_Mutation_p.K222M|DMD_uc004dcz.2_Missense_Mutation_p.K1440M|DMD_uc004dcy.1_Missense_Mutation_p.K1559M|DMD_uc004ddb.1_Missense_Mutation_p.K1555M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1563	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32408234	32408234	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32408234C>A	uc004dda.1	-	31	4542	c.4298G>T	c.(4297-4299)GGG>GTG	p.G1433V	DMD_uc004dcw.2_Missense_Mutation_p.G89V|DMD_uc004dcx.2_Missense_Mutation_p.G92V|DMD_uc004dcz.2_Missense_Mutation_p.G1310V|DMD_uc004dcy.1_Missense_Mutation_p.G1429V|DMD_uc004ddb.1_Missense_Mutation_p.G1425V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1433	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32408235	32408235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32408235C>A	uc004dda.1	-	31	4541	c.4297G>T	c.(4297-4299)GGG>TGG	p.G1433W	DMD_uc004dcw.2_Missense_Mutation_p.G89W|DMD_uc004dcx.2_Missense_Mutation_p.G92W|DMD_uc004dcz.2_Missense_Mutation_p.G1310W|DMD_uc004dcy.1_Missense_Mutation_p.G1429W|DMD_uc004ddb.1_Missense_Mutation_p.G1425W|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1433	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32536157	32536157	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32536157C>A	uc004dda.1	-	18	2504	c.2260G>T	c.(2260-2262)GGC>TGC	p.G754C	DMD_uc004dcz.2_Missense_Mutation_p.G631C|DMD_uc004dcy.1_Missense_Mutation_p.G750C|DMD_uc004ddb.1_Missense_Mutation_p.G746C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G746C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	754	Spectrin 4.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32591638	32591638	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32591638A>C	uc004dda.1	-						DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148408	34148408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148408T>G	uc004ddg.2	-	1	2021	c.1988A>C	c.(1987-1989)AAG>ACG	p.K663T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	663										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148797	34148797	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148797C>A	uc004ddg.2	-	1	1632	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	533										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962797	34962797	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34962797A>G	uc004ddi.1	+	1	1867	c.1849A>G	c.(1849-1851)ACT>GCT	p.T617A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	617										ovary(3)|breast(1)	4																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35944204	35944204	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35944204A>T	uc004ddj.2	+	2	379	c.320A>T	c.(319-321)TAT>TTT	p.Y107F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	107										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35959399	35959399	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35959399G>T	uc004ddj.2	+	3	461	c.402_splice	c.e3-1	p.G134_splice	CXorf22_uc010ngv.2_Splice_Site	NM_152632	NP_689845			hypothetical protein LOC170063											large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35966531	35966531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35966531C>A	uc004ddj.2	+	4	677	c.618C>A	c.(616-618)TTC>TTA	p.F206L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	206										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LANCL3	347404	broad.mit.edu	37	X	37431373	37431373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37431373C>T	uc011mkd.1	+	1	552	c.250C>T	c.(250-252)CTT>TTT	p.L84F	LANCL3_uc004ddp.1_Missense_Mutation_p.L84F	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	84							catalytic activity				0																		---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37658288	37658288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37658288G>A	uc004ddr.2	+	7	816	c.755G>A	c.(754-756)GGA>GAA	p.G252E	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	252	Extracellular (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CXorf27	25763	broad.mit.edu	37	X	37850184	37850184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37850184T>C	uc004ddt.3	+	1	115	c.92T>C	c.(91-93)TTC>TCC	p.F31S		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	31							DNA binding			central_nervous_system(1)	1																		---	---	---	---
OTC	5009	broad.mit.edu	37	X	38240679	38240679	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38240679C>T	uc004def.3	+	4	597	c.383C>T	c.(382-384)GCC>GTC	p.A128V		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39931992	39931992	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:39931992A>G	uc004den.3	-	4	2899	c.2607T>C	c.(2605-2607)TAT>TAC	p.Y869Y	BCOR_uc004dep.3_Silent_p.Y869Y|BCOR_uc004deo.3_Silent_p.Y869Y|BCOR_uc004dem.3_Silent_p.Y869Y|BCOR_uc004deq.3_Silent_p.Y869Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	869					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40448348	40448348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40448348A>G	uc004det.2	+	2	250	c.148A>G	c.(148-150)ATG>GTG	p.M50V	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Intron|ATP6AP2_uc011mkm.1_Missense_Mutation_p.M50V|ATP6AP2_uc011mkn.1_Missense_Mutation_p.M50V	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	50	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40456806	40456806	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40456806T>C	uc004det.2	+	5	526	c.424T>C	c.(424-426)TCA>CCA	p.S142P	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.S66P|ATP6AP2_uc011mkm.1_Missense_Mutation_p.S110P|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_Missense_Mutation_p.S7P	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	142	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
CXorf38	159013	broad.mit.edu	37	X	40496409	40496409	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40496409C>A	uc004dew.2	-	4	477	c.472_splice	c.e4-1	p.V158_splice	CXorf38_uc011mko.1_Splice_Site_p.V73_splice|CXorf38_uc004dev.1_Splice_Site_p.V39_splice|CXorf38_uc010nhd.2_Splice_Site	NM_144970	NP_659407			hypothetical protein LOC159013											ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40571544	40571544	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40571544A>G	uc004dex.3	-	7	923	c.783T>C	c.(781-783)GAT>GAC	p.D261D	MED14_uc010nhe.1_Silent_p.D145D	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	261	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41205775	41205775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41205775G>A	uc004dfe.2	+	14	2370	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	DDX3X_uc004dff.2_Silent_p.L505L|DDX3X_uc011mkq.1_Silent_p.L489L|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	505	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6															HNSCC(61;0.18)			---	---	---	---
GPR82	27197	broad.mit.edu	37	X	41586602	41586602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41586602T>C	uc004dfs.1	+	3	563	c.323T>C	c.(322-324)TTA>TCA	p.L108S	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.L108S|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAOB	4129	broad.mit.edu	37	X	43662605	43662605	+	Missense_Mutation	SNP	G	T	T	rs149395667	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43662605G>T	uc004dfz.3	-	4	502	c.326C>A	c.(325-327)CCA>CAA	p.P109Q	MAOB_uc011mkx.1_Missense_Mutation_p.P93Q|MAOB_uc011mky.1_Missense_Mutation_p.P93Q	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	109	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)													---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44918361	44918361	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44918361T>C	uc004dge.3	+						KDM6A_uc010nhk.2_Intron|KDM6A_uc011mkz.1_Intron|KDM6A_uc011mla.1_Intron|KDM6A_uc011mlb.1_Intron|KDM6A_uc011mlc.1_Intron|KDM6A_uc011mld.1_Intron	NM_021140	NP_066963			ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44928862	44928862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44928862T>C	uc004dge.3	+	17	2337	c.1962T>C	c.(1960-1962)CCT>CCC	p.P654P	KDM6A_uc010nhk.2_Silent_p.P620P|KDM6A_uc011mkz.1_Silent_p.P706P|KDM6A_uc011mla.1_Silent_p.P609P|KDM6A_uc011mlb.1_Silent_p.P661P|KDM6A_uc011mlc.1_Silent_p.P358P|KDM6A_uc011mld.1_Silent_p.P293P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	654					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
MIR222	407007	broad.mit.edu	37	X	45606494	45606494	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:45606494T>C	hsa-mir-222|MI0000299	-			c.37T>C			uc011mle.1_5'Flank|MIR221_hsa-mir-221|MI0000298_5'Flank|uc011mlf.1_RNA																	0																		---	---	---	---
ZNF673	55634	broad.mit.edu	37	X	46322301	46322301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46322301T>C	uc004dgn.3	+	4	433	c.134T>C	c.(133-135)GTG>GCG	p.V45A	ZNF673_uc004dgp.3_Missense_Mutation_p.V45A|ZNF673_uc010nhl.2_Missense_Mutation_p.V45A|ZNF673_uc004dgm.3_Missense_Mutation_p.V45A	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	zinc finger family member 673 isoform 1	45	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47045526	47045526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47045526A>G	uc004dhf.2	+	22	2872	c.2493A>G	c.(2491-2493)CCA>CCG	p.P831P	RBM10_uc004dhg.2_Silent_p.P753P|RBM10_uc004dhh.2_Silent_p.P830P|RBM10_uc010nhq.2_Silent_p.P754P|RBM10_uc004dhi.2_Silent_p.P896P	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	831					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47230065	47230065	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47230065A>G	uc004dhr.1	+	1						NM_003446	NP_003437			zinc finger protein 157						negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47269706	47269706	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47269706A>T	uc004dhr.1	+	2	173	c.104A>T	c.(103-105)GAT>GTT	p.D35V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47271938	47271938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47271938C>T	uc004dhr.1	+	4	535	c.466C>T	c.(466-468)CCC>TCC	p.P156S		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	156					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47272743	47272743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47272743G>A	uc004dhr.1	+	4	1340	c.1271G>A	c.(1270-1272)AGT>AAT	p.S424N		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	424	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47307610	47307610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47307610T>C	uc004dhs.3	-	4	1752	c.1685A>G	c.(1684-1686)GAA>GGA	p.E562G	ZNF41_uc004dhu.3_Missense_Mutation_p.E554G|ZNF41_uc004dht.3_Missense_Mutation_p.E434G|ZNF41_uc004dhv.3_Missense_Mutation_p.E530G|ZNF41_uc004dhw.3_Missense_Mutation_p.E522G|ZNF41_uc004dhy.3_Missense_Mutation_p.E520G|ZNF41_uc004dhx.3_Missense_Mutation_p.E520G|ZNF41_uc011mlm.1_Missense_Mutation_p.E434G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)																---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426532	47426532	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47426532T>C	uc011mlq.1	+	9	1006	c.873_splice	c.e9+2	p.V291_splice	ARAF_uc011mln.1_Splice_Site|ARAF_uc011mlo.1_Splice_Site_p.V157_splice|ARAF_uc011mlp.1_Splice_Site_p.V291_splice|ARAF_uc004dic.1_Splice_Site_p.V72_splice	NM_001654	NP_001645			v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47478771	47478771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47478771G>A	uc004die.2	-	1	486	c.357C>T	c.(355-357)ATC>ATT	p.I119I	SYN1_uc004did.2_Silent_p.I119I	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	119	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	47663670	47663670	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47663670C>T								LOC100133957 (143894 upstream) : ZNF81 (32631 downstream)																																			---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48339902	48339902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48339902G>A	uc004djo.1	+	8	880	c.557G>A	c.(556-558)CGG>CAG	p.R186Q	FTSJ1_uc004djl.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djm.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djn.1_Missense_Mutation_p.R186Q|FTSJ1_uc004djp.1_Missense_Mutation_p.R186Q|FTSJ1_uc011mlw.1_Missense_Mutation_p.R49Q	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	186					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48340054	48340054	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48340054C>T	uc004djo.1	+	9	929	c.606C>T	c.(604-606)CCC>CCT	p.P202P	FTSJ1_uc004djl.2_Silent_p.P202P|FTSJ1_uc004djm.2_Silent_p.P202P|FTSJ1_uc004djn.1_Silent_p.P202P|FTSJ1_uc004djp.1_Silent_p.P202P|FTSJ1_uc011mlw.1_Silent_p.P65P	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	202					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48371053	48371053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48371053G>A	uc010nie.1	+	6	790	c.632G>A	c.(631-633)GGC>GAC	p.G211D	PORCN_uc004djr.1_Missense_Mutation_p.G211D|PORCN_uc004djs.1_Missense_Mutation_p.G211D|PORCN_uc004djt.1_Missense_Mutation_p.G140D|PORCN_uc011mlx.1_Missense_Mutation_p.G140D|PORCN_uc004dju.1_Missense_Mutation_p.G80D|PORCN_uc004djv.1_Missense_Mutation_p.G211D|PORCN_uc004djw.1_Missense_Mutation_p.G211D	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	211	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386694	48386694	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48386694A>G	uc004djx.3	+	5	747	c.542A>G	c.(541-543)CAC>CGC	p.H181R	EBP_uc004djy.3_Missense_Mutation_p.H181R|EBP_uc004djz.2_Missense_Mutation_p.H181R	NM_006579	NP_006570	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	181					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			ovary(1)	1																		---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418075	48418075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48418075G>A	uc004dka.1	+	6	890	c.779G>A	c.(778-780)CGC>CAC	p.R260H	TBC1D25_uc011mly.1_Missense_Mutation_p.R202H|TBC1D25_uc004dkb.1_Missense_Mutation_p.R6H|TBC1D25_uc011mlz.1_Missense_Mutation_p.R6H|TBC1D25_uc011mma.1_Missense_Mutation_p.R6H|TBC1D25_uc004dkc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmb.1_Missense_Mutation_p.R264H|TBC1D25_uc011mmc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmd.1_Missense_Mutation_p.R6H	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	260	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48457143	48457143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48457143G>A	uc004dkh.1	+	3	227	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.R27Q|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	27						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48458825	48458825	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48458825G>A	uc004dkh.1	+	6	789	c.642G>A	c.(640-642)CGG>CGA	p.R214R	WDR13_uc010nif.1_Silent_p.R92R|WDR13_uc004dki.1_Silent_p.R122R|WDR13_uc004dkj.1_Silent_p.R214R|WDR13_uc004dkk.1_Silent_p.R122R|WDR13_uc004dkl.3_Silent_p.R122R|WDR13_uc011mme.1_Silent_p.R92R	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	214						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48559089	48559089	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48559089T>A	uc004dkn.2	+	3	818	c.773T>A	c.(772-774)GTC>GAC	p.V258D	SUV39H1_uc011mmf.1_Missense_Mutation_p.V269D|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	258	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0																		---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48826003	48826003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48837853	48837853	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48837853A>G	uc004dly.1	-	20	1840	c.1805T>C	c.(1804-1806)ATC>ACC	p.I602T	GRIPAP1_uc004dlz.2_Missense_Mutation_p.I492T|GRIPAP1_uc004dma.2_Missense_Mutation_p.I523T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	602	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48839424	48839424	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48839424C>A	uc004dly.1	-	17	1601	c.1566G>T	c.(1564-1566)AAG>AAT	p.K522N	GRIPAP1_uc004dlz.2_Missense_Mutation_p.K412N|GRIPAP1_uc004dma.2_Missense_Mutation_p.K469N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	522	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48970832	48970832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48970832C>T	uc004dmr.2	-	10	1262	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	419	KOW 2.					nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48972254	48972254	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48972254G>A	uc004dmr.2	-	8	1138	c.1131C>T	c.(1129-1131)TAC>TAT	p.Y377Y		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	377						nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
MAGIX	79917	broad.mit.edu	37	X	49021524	49021524	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49021524C>T	uc010nin.1	+						MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Intron|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135			MAGI family member, X-linked isoform a												0																		---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49104239	49104239	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49104239G>A	uc004dnd.1	+						CCDC22_uc004dnc.1_Intron	NM_014008	NP_054727			coiled-coil domain containing 22											central_nervous_system(1)	1																		---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49127054	49127054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49127054A>G	uc004dnh.1	+	1	738	c.722A>G	c.(721-723)GAC>GGC	p.D241G	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	241	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161405	49161405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49161405A>T	uc010nir.1	+	2	183	c.67A>T	c.(67-69)ATT>TTT	p.I23F		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	G antigen 10	23											0	Ovarian(276;0.236)																	---	---	---	---
GAGE12J	729396	broad.mit.edu	37	X	49179707	49179707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49179707C>T	uc010nit.2	+	2	151	c.35C>T	c.(34-36)CCT>CTT	p.P12L	GAGE12J_uc004dnl.3_Missense_Mutation_p.P12L|GAGE10_uc010nis.2_Intron|GAGE12J_uc004dnk.3_Missense_Mutation_p.P12L	NM_001098406	NP_001091876	A6NER3	GG12J_HUMAN	G antigen 12J	12											0	Ovarian(276;0.236)																	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49855016	49855016	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49855016C>A	uc004dos.1	+	10	2026	c.1778C>A	c.(1777-1779)CCT>CAT	p.P593H	CLCN5_uc004dor.1_Missense_Mutation_p.P663H|CLCN5_uc004doq.1_Missense_Mutation_p.P663H|CLCN5_uc004dot.1_Missense_Mutation_p.P593H	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	593	CBS 1.|Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958148	49958148	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958148C>T	uc004dow.1	-	5	1340	c.1216G>A	c.(1216-1218)GCT>ACT	p.A406T	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.A228T|AKAP4_uc004dou.1_Missense_Mutation_p.A397T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	406					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958224	49958224	+	Silent	SNP	G	A	A	rs140947270		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958224G>A	uc004dow.1	-	5	1264	c.1140C>T	c.(1138-1140)TCC>TCT	p.S380S	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S202S|AKAP4_uc004dou.1_Silent_p.S371S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50213510	50213510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50213510C>T	uc010njr.1	-	1	228	c.168G>A	c.(166-168)GAG>GAA	p.E56E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---
NUDT10	170685	broad.mit.edu	37	X	51075982	51075982	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51075982G>A	uc004dph.2	+	2	385	c.165G>A	c.(163-165)GAG>GAA	p.E55E	NUDT10_uc004dpi.3_Silent_p.E55E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	55	Nudix box.|Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150515	51150515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150515G>A	uc004dpj.2	+	1	749	c.647G>A	c.(646-648)CGC>CAC	p.R216H		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150736	51150736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150736C>T	uc004dpj.2	+	1	970	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51637894	51637894	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51637894C>T	uc004dpm.2	+						MAGED1_uc004dpn.2_Intron|MAGED1_uc004dpo.2_Intron|MAGED1_uc011mnx.1_Intron	NM_001005332	NP_001005332			melanoma antigen family D, 1 isoform b						apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51639598	51639598	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51639598A>G	uc004dpm.2	+	4	942	c.847A>G	c.(847-849)ACC>GCC	p.T283A	MAGED1_uc004dpn.2_Missense_Mutation_p.T339A|MAGED1_uc004dpo.2_Missense_Mutation_p.T283A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	283	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
XAGE5	170627	broad.mit.edu	37	X	52847243	52847243	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52847243G>T	uc004drd.1	+	5						NM_130775	NP_570131			X antigen family, member 5											ovary(1)	1																		---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53244983	53244983	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53244983G>A	uc004drz.2	-	7	1490	c.957C>T	c.(955-957)GCC>GCT	p.A319A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A252A|KDM5C_uc004dsa.2_Silent_p.A318A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53247567	53247567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53247567A>G	uc004drz.2	-	3	775	c.242T>C	c.(241-243)GTG>GCG	p.V81A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.V81A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	81	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53268436	53268436	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53268436T>C	uc004dsd.2	-	11	3257	c.3056A>G	c.(3055-3057)TAC>TGC	p.Y1019C	IQSEC2_uc004dsc.2_Missense_Mutation_p.Y814C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1009	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53279871	53279871	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53279871A>G	uc004dsd.2	-	5	2088	c.1887T>C	c.(1885-1887)CAT>CAC	p.H629H	IQSEC2_uc004dsc.2_Silent_p.H424H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	619	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53280312	53280312	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53280312G>A	uc004dsd.2	-	5	1647	c.1446C>T	c.(1444-1446)CAC>CAT	p.H482H	IQSEC2_uc004dsc.2_Silent_p.H277H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	472					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53440054	53440054	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53440054A>T	uc004dsg.2	-	5	719	c.650T>A	c.(649-651)GTA>GAA	p.V217E	SMC1A_uc011moe.1_Missense_Mutation_p.V195E|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Missense_Mutation_p.V83E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	217	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53449435	53449435	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53449435T>C	uc004dsg.2	-						SMC1A_uc011moe.1_Intron|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Intron|RIBC1_uc004dsj.1_5'Flank|RIBC1_uc011mog.1_5'Flank|RIBC1_uc004dsk.2_5'Flank	NM_006306	NP_006297			structural maintenance of chromosomes 1A						cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53607904	53607904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53607904T>C	uc004dsp.2	-	43	6005	c.5603A>G	c.(5602-5604)AAC>AGC	p.N1868S	HUWE1_uc004dsn.2_Missense_Mutation_p.N693S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1868					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53654765	53654765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53654765A>G	uc004dsp.2	-	16	1710	c.1308T>C	c.(1306-1308)GTT>GTC	p.V436V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	436					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54019239	54019239	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54019239C>T	uc004dsu.2	-	14	1841	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	PHF8_uc004dst.2_Missense_Mutation_p.D554N|PHF8_uc004dsv.2_Missense_Mutation_p.D420N|PHF8_uc004dsw.2_Missense_Mutation_p.D453N|PHF8_uc004dsx.2_Missense_Mutation_p.D318N|PHF8_uc004dsy.2_Missense_Mutation_p.D554N	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	590					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54037577	54037577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54037577T>C	uc004dsu.2	-	8	1105	c.1032A>G	c.(1030-1032)GGA>GGG	p.G344G	PHF8_uc004dst.2_Silent_p.G308G|PHF8_uc004dsv.2_Silent_p.G174G|PHF8_uc004dsw.2_Silent_p.G308G|PHF8_uc004dsx.2_Silent_p.G72G|PHF8_uc004dsy.2_Silent_p.G308G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	344	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54263865	54263865	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54263865A>C	uc004dtd.1	-	20	4432	c.3993T>G	c.(3991-3993)TCT>TCG	p.S1331S	WNK3_uc004dtc.1_Silent_p.S1378S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1331					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11																		---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54491892	54491892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54491892T>C	uc004dtg.2	-	8	2362	c.1628A>G	c.(1627-1629)GAT>GGT	p.D543G	FGD1_uc011moi.1_Missense_Mutation_p.D301G	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	543	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54784875	54784875	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54784875C>A	uc004dtj.2	-	8	1662	c.1632G>T	c.(1630-1632)AAG>AAT	p.K544N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	544					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955368	54955368	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955368T>C	uc004dtq.2	+	12	2318	c.2211T>C	c.(2209-2211)GCT>GCC	p.A737A	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A268A|TRO_uc004dtw.2_Silent_p.A340A|TRO_uc004dtx.2_Silent_p.A120A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	737					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955548	54955548	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955548T>C	uc004dtq.2	+	12	2498	c.2391T>C	c.(2389-2391)TGT>TGC	p.C797C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.C328C|TRO_uc004dtw.2_Silent_p.C400C|TRO_uc004dtx.2_Silent_p.C180C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	797	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
KLF8	11279	broad.mit.edu	37	X	56276693	56276693	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56276693G>A	uc004dur.2	+	2	983	c.37G>A	c.(37-39)GTC>ATC	p.V13I	KLF8_uc010nkg.2_Intron|KLF8_uc011mop.1_Missense_Mutation_p.V13I|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57367813	57367813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57367813G>A	uc004dvc.2	+	5	881	c.732G>A	c.(730-732)AAG>AAA	p.K244K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	244						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3															HNSCC(52;0.14)			---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935777	57935777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57935777A>T	uc004dve.2	-	1	1291	c.1078T>A	c.(1078-1080)TTC>ATC	p.F360I		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	360	C2H2-type 4.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570336	62570336	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62570336C>A	uc004dvf.2	-	1	883	c.363G>T	c.(361-363)AAG>AAT	p.K121N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	121					gamete generation					ovary(1)|lung(1)	2																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62893983	62893983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62893983G>A	uc004dvl.2	-	6	1698	c.859C>T	c.(859-861)CGC>TGC	p.R287C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R176C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R149C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R266C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R266C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R234C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R294C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	287	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62944564	62944564	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62944564C>G	uc004dvl.2	-	2	876	c.37G>C	c.(37-39)GCT>CCT	p.A13P	ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.A20P	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	13	SH3.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445207	63445207	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445207C>T	uc011mou.1	-	10	1517	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	ASB12_uc004dvp.1_Silent_p.T99T|ASB12_uc004dvq.1_Silent_p.T108T|ASB12_uc004dvr.1_Silent_p.T108T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445479	63445479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445479T>C	uc011mou.1	-	10	1245	c.1177A>G	c.(1177-1179)ATC>GTC	p.I393V	ASB12_uc004dvp.1_Missense_Mutation_p.I9V|ASB12_uc004dvq.1_Missense_Mutation_p.I18V|ASB12_uc004dvr.1_Missense_Mutation_p.I18V	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722378	64722378	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64722378C>T	uc010nko.2	+	5	1776	c.1767C>T	c.(1765-1767)AAC>AAT	p.N589N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	589							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3																		---	---	---	---
MSN	4478	broad.mit.edu	37	X	64951829	64951829	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64951829C>A	uc004dwf.2	+	6	879	c.681C>A	c.(679-681)ATC>ATA	p.I227I		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	227	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
MSN	4478	broad.mit.edu	37	X	64957057	64957057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64957057C>T	uc004dwf.2	+	10	1306	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	370					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67502906	67502906	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67502906T>A	uc004dww.3	-	4	598	c.304A>T	c.(304-306)ATG>TTG	p.M102L	OPHN1_uc011mpg.1_Missense_Mutation_p.M102L|OPHN1_uc004dwx.2_Missense_Mutation_p.M102L	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	102					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67751834	67751834	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67751834C>A	uc004dwy.2	+	7	727	c.704C>A	c.(703-705)CCT>CAT	p.P235H	YIPF6_uc011mph.1_Missense_Mutation_p.P192H|uc004dwz.2_5'Flank	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	235						endoplasmic reticulum|integral to membrane					0																		---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67941915	67941915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67941915G>A	uc004dxa.2	+	10	2618	c.2246G>A	c.(2245-2247)GGC>GAC	p.G749D	STARD8_uc004dxb.2_Missense_Mutation_p.G829D|STARD8_uc004dxc.3_Missense_Mutation_p.G749D	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	749	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060180	68060180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060180G>A	uc004dxd.3	+	5	1504	c.724G>A	c.(724-726)GCG>ACG	p.A242T	EFNB1_uc004dxe.2_Missense_Mutation_p.A242T	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	242	Helical; (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060449	68060449	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060449C>T	uc004dxd.3	+	5	1773	c.993C>T	c.(991-993)GTC>GTT	p.V331V	EFNB1_uc004dxe.2_Silent_p.V331V	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	331	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68381999	68381999	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68381999G>T	uc004dxh.2	-	2	1369	c.1083C>A	c.(1081-1083)TGC>TGA	p.C361*	PJA1_uc011mpi.1_Nonsense_Mutation_p.C79*|PJA1_uc004dxg.2_Nonsense_Mutation_p.C173*|PJA1_uc004dxi.2_Nonsense_Mutation_p.C306*	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	361							zinc ion binding				0																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639532	69639532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639532C>T	uc004dyg.2	+	30	3521	c.3394C>T	c.(3394-3396)CGG>TGG	p.R1132W	KIF4A_uc010nkw.2_Missense_Mutation_p.R1132W	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1132	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639929	69639929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639929C>T	uc004dyg.2	+	31	3640	c.3513C>T	c.(3511-3513)TGC>TGT	p.C1171C	KIF4A_uc010nkw.2_Silent_p.C1171C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1171	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69647035	69647035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69647035G>A	uc004dyh.2	+	9	1002	c.751G>A	c.(751-753)GGA>AGA	p.G251R	GDPD2_uc010nkx.1_Missense_Mutation_p.G251R|GDPD2_uc010nky.1_Missense_Mutation_p.G37R|GDPD2_uc011mpk.1_Missense_Mutation_p.G251R|GDPD2_uc011mpl.1_Missense_Mutation_p.G172R|GDPD2_uc011mpm.1_Missense_Mutation_p.G172R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	251	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69649837	69649837	+	Missense_Mutation	SNP	C	T	T	rs35552527	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69649837C>T	uc004dyh.2	+	12	1482	c.1231C>T	c.(1231-1233)CGT>TGT	p.R411C	GDPD2_uc010nky.1_Silent_p.D263D|GDPD2_uc011mpk.1_Missense_Mutation_p.R411C|GDPD2_uc011mpl.1_Missense_Mutation_p.R332C|GDPD2_uc011mpm.1_Missense_Mutation_p.R332C	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	411	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69652204	69652204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69652204A>G	uc004dyh.2	+	13	1606	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.K503R|GDPD2_uc011mpl.1_Missense_Mutation_p.K373R|GDPD2_uc011mpm.1_Missense_Mutation_p.K373R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	452	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70148105	70148105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70148105A>G	uc004dyn.2	-	5	868	c.710T>C	c.(709-711)TTG>TCG	p.L237S	SLC7A3_uc004dyo.2_Missense_Mutation_p.L237S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	237	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
CXorf65	158830	broad.mit.edu	37	X	70326212	70326212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70326212A>G	uc011mpo.1	-	2	104	c.90T>C	c.(88-90)AGT>AGC	p.S30S	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	30										central_nervous_system(1)	1																		---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327621	70327621	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70327621C>G	uc004dyw.1	-	8	1089	c.1075G>C	c.(1075-1077)GCC>CCC	p.A359P	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.A88P|IL2RG_uc004dyx.1_Missense_Mutation_p.A169P	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	359	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									Severe_Combined_Immunodeficiency_X-linked				---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389593	70389593	+	Nonsense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70389593C>G	uc004dzb.2	+	7	2437	c.2133C>G	c.(2131-2133)TAC>TAG	p.Y711*	NLGN3_uc004dzc.2_Nonsense_Mutation_p.Y594*|NLGN3_uc011mps.1_Nonsense_Mutation_p.Y691*|NLGN3_uc004dze.2_Nonsense_Mutation_p.Y529*	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	731	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70823666	70823666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70823666A>G	uc004eae.2	+	8	1040	c.539A>G	c.(538-540)GAC>GGC	p.D180G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	180	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70832302	70832302	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70832302T>A	uc004eae.2	+	12	2349	c.1848T>A	c.(1846-1848)TAT>TAA	p.Y616*	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	616						nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836470	70836470	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70836470G>A	uc004eaf.2	-	2	920	c.852C>T	c.(850-852)GGC>GGT	p.G284G	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.G331G	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	284	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349878	71349878	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71349878T>C	uc010nlh.1	-	1	1874	c.1513A>G	c.(1513-1515)AGA>GGA	p.R505G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	505										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71350381	71350381	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71350381T>C	uc010nlh.1	-	1	1371	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	337										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
PIN4	5303	broad.mit.edu	37	X	71416695	71416695	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71416695T>A	uc004eam.2	+	3	288	c.253T>A	c.(253-255)TCT>ACT	p.S85T	PIN4_uc004eao.1_Missense_Mutation_p.S85T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	60	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)																	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425828	71425828	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71425828T>A	uc004eaq.1	-	2	2886	c.2789A>T	c.(2788-2790)GAT>GTT	p.D930V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.D807V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	930					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)																	---	---	---	---
HDAC8	55869	broad.mit.edu	37	X	71787753	71787753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71787753C>T	uc004eau.2	-	4	465	c.423G>A	c.(421-423)TGG>TGA	p.W141*	HDAC8_uc011mqe.1_5'UTR|HDAC8_uc011mqf.1_Intron|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Nonsense_Mutation_p.W12*|HDAC8_uc004eav.2_Nonsense_Mutation_p.W141*|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	141	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)													---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71802336	71802336	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71802336A>G	uc004eax.3	-	31	3711	c.3410T>C	c.(3409-3411)CTG>CCG	p.L1137P	PHKA1_uc004eay.3_Missense_Mutation_p.L1124P|PHKA1_uc011mqi.1_Missense_Mutation_p.L1065P|PHKA1_uc010nll.2_Missense_Mutation_p.L169P	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1137					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)																	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433875	72433875	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72433875G>A	uc004ebi.2	-	1	810	c.454C>T	c.(454-456)CGT>TGT	p.R152C	NAP1L2_uc011mqj.1_Missense_Mutation_p.R10C	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	152					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)																	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73040844	73040844	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73040844T>C	uc004ebn.2	+	1		c.28805T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042647	73042647	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73042647A>G	uc004ebn.2	+	1		c.30608A>G			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044507	73044507	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044507T>C	uc004ebn.2	+	1		c.32468T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044614	73044614	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044614T>A	uc004ebn.2	+	1		c.32575T>A			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73063303	73063303	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73063303A>G	uc004ebm.1	-	1		c.9286T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73065194	73065194	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73065194A>G	uc004ebm.1	-	1		c.7395T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	73095435	73095435	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73095435G>A								XIST (22847 upstream) : NCRNA00183 (68724 downstream)																																			---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812655	73812655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73812655T>C	uc004ebu.2	-	5	785	c.495A>G	c.(493-495)GGA>GGG	p.G165G	RLIM_uc004ebw.2_Silent_p.G165G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	165					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963610	73963610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73963610A>T	uc004eby.2	-	3	1399	c.782T>A	c.(781-783)TTC>TAC	p.F261Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73964288	73964288	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73964288A>G	uc004eby.2	-	3	721	c.104T>C	c.(103-105)ATG>ACG	p.M35T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	35					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
ABCB7	22	broad.mit.edu	37	X	74289248	74289248	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74289248T>C	uc004eca.2	-	11	1432	c.1407A>G	c.(1405-1407)ACA>ACG	p.T469T	ABCB7_uc004ebz.2_Silent_p.T470T|ABCB7_uc011mqn.1_Silent_p.T443T|ABCB7_uc010nls.2_Silent_p.T430T|ABCB7_uc010nlt.2_Silent_p.T429T	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	469					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1																		---	---	---	---
UPRT	139596	broad.mit.edu	37	X	74523346	74523346	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74523346A>T	uc004ecb.1	+	7	1059	c.930A>T	c.(928-930)TAA>TAT	p.*310Y	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_3'UTR|UPRT_uc004ece.1_Nonstop_Mutation_p.*174Y	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	310					nucleoside metabolic process	cytoplasm|nucleus					0																		---	---	---	---
CXorf26	51260	broad.mit.edu	37	X	75395397	75395397	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75395397T>C	uc004ecl.1	+	4	449	c.246T>C	c.(244-246)CTT>CTC	p.L82L		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	82											0																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649862	75649862	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75649862G>A	uc004ecm.1	+	1	1746	c.1539G>A	c.(1537-1539)CGG>CGA	p.R513R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	513	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650756	75650756	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75650756C>A	uc004ecm.1	+	1	2640	c.2433C>A	c.(2431-2433)TCC>TCA	p.S811S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	811	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77224638G>A	uc004ecy.1	-	1	498	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77227165	77227165	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77227165T>C	uc004ecx.3	+	2	187	c.27T>C	c.(25-27)TCT>TCC	p.S9S	ATP7A_uc004ecw.2_Silent_p.S9S|PGAM4_uc004ecy.1_5'Flank	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	9	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254041	77254041	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77254041A>T	uc004ecx.3	+	5	1563	c.1403A>T	c.(1402-1404)AAT>ATT	p.N468I	ATP7A_uc004ecw.2_Missense_Mutation_p.N468I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77284945	77284945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77284945A>G	uc004ecx.3	+							NM_000052	NP_000043			ATPase, Cu++ transporting, alpha polypeptide						ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77369604	77369604	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77369604C>A	uc004ecz.3	+	4	536	c.364C>A	c.(364-366)CTC>ATC	p.L122I	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.L94I	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	122					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TAF9B	51616	broad.mit.edu	37	X	77393267	77393267	+	Silent	SNP	C	T	T	rs145287115		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77393267C>T	uc004eda.2	-	4	455	c.384G>A	c.(382-384)AGG>AGA	p.R128R		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	128					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0																		---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528568	77528568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77528568A>G	uc004edb.2	-	3	1076	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CYSLTR1_uc010nma.2_Missense_Mutation_p.S226P|CYSLTR1_uc010nmb.2_Missense_Mutation_p.S226P	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)													---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216180	78216180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78216180G>T	uc004ede.2	+	4	532	c.163G>T	c.(163-165)GCC>TCC	p.A55S	P2RY10_uc004edf.2_Missense_Mutation_p.A55S	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5																		---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78616678	78616678	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78616678T>C	uc004edh.2	-						ITM2A_uc011mqr.1_Intron	NM_004867	NP_004858			integral membrane protein 2A							integral to membrane	protein binding			lung(2)	2																		---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79278708	79278708	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79278708G>T	uc010nmg.1	+	3	459	c.325G>T	c.(325-327)GGG>TGG	p.G109W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	109	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79948491	79948491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79948491G>A	uc004edt.2	-	28	3474	c.3211C>T	c.(3211-3213)CAG>TAG	p.Q1071*	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edp.2_Nonsense_Mutation_p.Q900*|BRWD3_uc004edq.2_Nonsense_Mutation_p.Q667*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.Q667*|BRWD3_uc004edr.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eds.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edu.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004edv.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edw.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edx.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edy.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edz.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eea.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.Q667*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1071										ovary(4)	4																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79978164	79978164	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79978164A>T	uc004edt.2	-	17	2036	c.1773T>A	c.(1771-1773)GAT>GAA	p.D591E	BRWD3_uc004edo.2_Missense_Mutation_p.D187E|BRWD3_uc004edp.2_Missense_Mutation_p.D420E|BRWD3_uc004edq.2_Missense_Mutation_p.D187E|BRWD3_uc010nmj.1_Missense_Mutation_p.D187E|BRWD3_uc004edr.2_Missense_Mutation_p.D261E|BRWD3_uc004eds.2_Missense_Mutation_p.D187E|BRWD3_uc004edu.2_Missense_Mutation_p.D261E|BRWD3_uc004edv.2_Missense_Mutation_p.D187E|BRWD3_uc004edw.2_Missense_Mutation_p.D187E|BRWD3_uc004edx.2_Missense_Mutation_p.D187E|BRWD3_uc004edy.2_Missense_Mutation_p.D187E|BRWD3_uc004edz.2_Missense_Mutation_p.D261E|BRWD3_uc004eea.2_Missense_Mutation_p.D261E|BRWD3_uc004eeb.2_Missense_Mutation_p.D187E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	591										ovary(4)	4																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83352817	83352817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83352817A>G	uc004eej.1	-	19	1893	c.1816T>C	c.(1816-1818)TGG>CGG	p.W606R	RPS6KA6_uc011mqt.1_Missense_Mutation_p.W606R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W503R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	606	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83359656	83359656	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83359656C>A	uc004eej.1	-	17	1542	c.1465G>T	c.(1465-1467)GAT>TAT	p.D489Y	RPS6KA6_uc011mqt.1_Missense_Mutation_p.D489Y|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D386Y	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	489	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502578	84502578	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84502578T>C	uc004eeo.2	+	3					ZNF711_uc004eep.2_5'UTR|ZNF711_uc004eeq.2_5'UTR	NM_021998	NP_068838			zinc finger protein 711						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928184	92928184	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92928184G>A	uc004efq.2	-	1	425	c.120C>T	c.(118-120)AGC>AGT	p.S40S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	40	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551344	99551344	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99551344G>A	uc010nmz.2	-	6	5054	c.3378C>T	c.(3376-3378)AGC>AGT	p.S1126S	PCDH19_uc004efw.3_Silent_p.S1078S|PCDH19_uc004efx.3_Silent_p.S1079S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99661923	99661923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99661923T>C	uc010nmz.2	-	1	3349	c.1673A>G	c.(1672-1674)GAC>GGC	p.D558G	PCDH19_uc004efw.3_Missense_Mutation_p.D558G|PCDH19_uc004efx.3_Missense_Mutation_p.D558G	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	558	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99942073	99942073	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99942073C>T	uc004egd.3	-	13	1531	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	SYTL4_uc010nnb.2_Missense_Mutation_p.R64H|SYTL4_uc010nnc.2_Missense_Mutation_p.R392H|SYTL4_uc004ege.3_Missense_Mutation_p.R392H|SYTL4_uc004egf.3_Missense_Mutation_p.R392H|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	392	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100104913	100104913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100104913C>T	uc004egj.2	-	10	1350	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	NOX1_uc004egl.3_Missense_Mutation_p.D382N|NOX1_uc010nne.2_Missense_Mutation_p.D345N	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	382	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100129075	100129075	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100129075A>T	uc004egj.2	-						uc010nnf.2_Intron|NOX1_uc004egl.3_Intron|NOX1_uc010nne.2_Intron	NM_007052	NP_008983			NADPH oxidase 1 isoform long						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100169342	100169342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100169342C>T	uc004egn.2	-	3	1940	c.1335G>A	c.(1333-1335)AGG>AGA	p.R445R	XKRX_uc011mre.1_Silent_p.R241R	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	445						integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100177865	100177865	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100177865A>T	uc004egn.2	-	2	1126	c.521T>A	c.(520-522)ATC>AAC	p.I174N	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	174	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100292924	100292924	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100292924G>A	uc004egq.2	-	4	719	c.420C>T	c.(418-420)CTC>CTT	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100334082	100334082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100334082A>G	uc004egw.2	+	1	247	c.91A>G	c.(91-93)AGG>GGG	p.R31G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	31						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349662	100349662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349662C>T	uc004egw.2	+	2	377	c.221C>T	c.(220-222)GCC>GTC	p.A74V		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	74	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349842	100349842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349842A>G	uc004egw.2	+	2	557	c.401A>G	c.(400-402)AAG>AGG	p.K134R		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	134						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100381795	100381795	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100381795A>T	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100515554	100515554	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100515554G>A	uc004egz.2	+	24	3187	c.2818G>A	c.(2818-2820)GCC>ACC	p.A940T	DRP2_uc011mrh.1_Missense_Mutation_p.A862T	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	940					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---
BTK	695	broad.mit.edu	37	X	100608210	100608210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100608210T>C	uc004ehg.2	-	18	2073	c.1880A>G	c.(1879-1881)TAT>TGT	p.Y627C	BTK_uc004ehf.2_Missense_Mutation_p.Y127C|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.Y103C|BTK_uc010nnm.2_Intron|BTK_uc010nnn.2_Missense_Mutation_p.Y451C|BTK_uc010nno.2_Missense_Mutation_p.Y661C	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	627	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6														Agammaglobulinemia_X-linked				---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100808785	100808785	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100808785T>C	uc004ehv.2	+	4	1243	c.872T>C	c.(871-873)GTG>GCG	p.V291A	ARMCX1_uc004ehw.2_Missense_Mutation_p.V291A	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	291						integral to membrane	binding			ovary(3)|pancreas(1)	4																		---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101095513	101095513	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101095513T>C	uc011mrk.1	-	10	1016	c.656A>G	c.(655-657)AAC>AGC	p.N219S	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	219	LRR 3.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1																		---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101152909	101152909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101152909G>A	uc011mrl.1	-	5	748	c.437C>T	c.(436-438)GCT>GTT	p.A146V	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
TCEAL2	140597	broad.mit.edu	37	X	101382346	101382346	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101382346A>T	uc004eip.2	+	3	763	c.544A>T	c.(544-546)AGA>TGA	p.R182*		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102318123	102318123	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102318123A>T	uc004ejt.1	-	3	320	c.80T>A	c.(79-81)GTT>GAT	p.V27D		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	27					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
NXF3	56000	broad.mit.edu	37	X	102337215	102337215	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102337215G>A	uc004eju.2	-	9	929	c.858C>T	c.(856-858)TGC>TGT	p.C286C	NXF3_uc010noi.1_Silent_p.C136C|NXF3_uc011mrw.1_Silent_p.C286C|NXF3_uc011mrx.1_Silent_p.C197C	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	286						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
TCEAL4	79921	broad.mit.edu	37	X	102842091	102842091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102842091C>T	uc004ekl.2	+	3	781	c.488C>T	c.(487-489)GCT>GTT	p.A163V	TCEAL4_uc004ekn.2_Missense_Mutation_p.A163V|TCEAL4_uc004ekm.2_Missense_Mutation_p.A163V|TCEAL4_uc004eko.2_Missense_Mutation_p.A163V	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
RAB9B	51209	broad.mit.edu	37	X	103080451	103080451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103080451G>A	uc004ell.1	-	3	549	c.264C>T	c.(262-264)AGC>AGT	p.S88S	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	88					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3																		---	---	---	---
ESX1	80712	broad.mit.edu	37	X	103499107	103499107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103499107G>A	uc004ely.2	-	2	292	c.234C>T	c.(232-234)GGC>GGT	p.G78G		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	78					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279292	105279292	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105279292G>A	uc004eme.1	-	2	723	c.707C>T	c.(706-708)CCC>CTC	p.P236L	SERPINA7_uc010npd.2_Missense_Mutation_p.P236L|SERPINA7_uc010npe.1_Missense_Mutation_p.P236L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105875884	105875884	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105875884A>G	uc004emi.3	+	4	1160	c.1009A>G	c.(1009-1011)ACA>GCA	p.T337A	CXorf57_uc004emj.3_Missense_Mutation_p.T337A|CXorf57_uc004emh.2_Missense_Mutation_p.T337A	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	337										ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105879884	105879884	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105879884A>G	uc004emi.3	+						CXorf57_uc004emj.3_Intron|CXorf57_uc004emh.2_Intron	NM_018015	NP_060485			hypothetical protein LOC55086											ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106028294	106028294	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106028294G>A	uc004eml.2	+	3	983	c.733_splice	c.e3-1	p.R245_splice	RNF128_uc004emk.2_Splice_Site_p.R219_splice	NM_194463	NP_919445			ring finger protein 128 isoform 1							endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106185904	106185904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106185904T>C	uc004emu.3	-	15	2460	c.2217A>G	c.(2215-2217)GCA>GCG	p.A739A	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.A739A|MORC4_uc004emw.3_Silent_p.A487A	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	739							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---
RBM41	55285	broad.mit.edu	37	X	106331799	106331799	+	Nonsense_Mutation	SNP	C	T	T	rs149164060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106331799C>T	uc004emz.2	-	5	825	c.794G>A	c.(793-795)TGG>TAG	p.W265*	RBM41_uc004emy.1_Nonsense_Mutation_p.W265*	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	265							nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	106803566	106803566	+	IGR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106803566T>A								CXorf41 (316094 upstream) : PRPS1 (68088 downstream)																																			---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107288361	107288361	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107288361A>T	uc004eno.2	+	1	162	c.1A>T	c.(1-3)ATG>TTG	p.M1L	VSIG1_uc011msk.1_Missense_Mutation_p.M1L	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	1						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107395055	107395055	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107395055A>C	uc004enr.2	+	11	1107	c.984A>C	c.(982-984)AAA>AAC	p.K328N	ATG4A_uc004ent.2_Missense_Mutation_p.K266N|ATG4A_uc004ens.2_Missense_Mutation_p.K244N|ATG4A_uc011msl.1_Missense_Mutation_p.K182N|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.K244N|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	328					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107457431	107457431	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107457431C>A	uc004enw.3	-	6	458	c.355G>T	c.(355-357)GGC>TGC	p.G119C	COL4A6_uc004env.3_Missense_Mutation_p.G118C|COL4A6_uc011msn.1_Missense_Mutation_p.G118C|COL4A6_uc010npk.2_Missense_Mutation_p.G118C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	119	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107866021	107866021	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107866021C>A	uc004enz.1	+	33	3085	c.2883C>A	c.(2881-2883)GGC>GGA	p.G961G	COL4A5_uc011mso.1_Silent_p.G961G|COL4A5_uc004eob.1_Silent_p.G569G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	961	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107935981	107935981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107935981C>T	uc004enz.1	+	49	4734	c.4532C>T	c.(4531-4533)ACG>ATG	p.T1511M	COL4A5_uc011mso.1_Missense_Mutation_p.T1508M|COL4A5_uc011msp.1_Missense_Mutation_p.T187M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1505	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979097	107979097	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107979097C>T	uc004eoc.2	-	1	511	c.478G>A	c.(478-480)GCA>ACA	p.A160T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	160	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108924228	108924228	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108924228G>A	uc004eoi.2	-	7	1282	c.777C>T	c.(775-777)AAC>AAT	p.N259N	ACSL4_uc004eoj.2_Silent_p.N218N|ACSL4_uc004eok.2_Silent_p.N218N|ACSL4_uc010npp.1_Silent_p.N259N	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	259	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)													---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109696605	109696605	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109696605T>C	uc004eor.1	+	3	3006	c.2760T>C	c.(2758-2760)TGT>TGC	p.C920C	RGAG1_uc011msr.1_Silent_p.C920C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	920										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109937471	109937471	+	Missense_Mutation	SNP	C	T	T	rs141240795	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109937471C>T	uc004eou.3	-	8	1047	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CHRDL1_uc004eov.2_Missense_Mutation_p.R227Q|CHRDL1_uc004eow.2_Missense_Mutation_p.R232Q|CHRDL1_uc010nps.2_Missense_Mutation_p.R232Q|CHRDL1_uc004eot.2_Missense_Mutation_p.R153Q|CHRDL1_uc011mss.1_Missense_Mutation_p.R147Q	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110925502	110925502	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110925502A>T	uc011msy.1	+	2	258	c.224A>T	c.(223-225)GAT>GTT	p.D75V	ALG13_uc004epi.1_Missense_Mutation_p.D75V|ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	75					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111019870	111019870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111019870A>G	uc004epl.1	-	11	3512	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	865	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195483	111195483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111195483C>T	uc004epl.1	-	2	1085	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TRPC5_uc004epm.1_Missense_Mutation_p.E56K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	56	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111914414G>A	uc004epq.2	-	2	538	c.205C>T	c.(205-207)CGC>TGC	p.R69C	LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	69						integral to membrane					0																		---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112035138	112035138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:112035138T>C	uc004epr.2	-	6	1848	c.1848A>G	c.(1846-1848)GCA>GCG	p.A616A	AMOT_uc004eps.2_Silent_p.A207A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	616	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114880488	114880488	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114880488G>A	uc004eqd.2	+	12	1749	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	PLS3_uc010nqg.2_Silent_p.L235L|PLS3_uc011mtf.1_Silent_p.L440L|PLS3_uc004eqe.2_Silent_p.L453L|PLS3_uc011mtg.1_Silent_p.L426L|PLS3_uc011mth.1_Silent_p.L408L|PLS3_uc011mti.1_Silent_p.L129L|PLS3_uc011mtj.1_Silent_p.L47L|PLS3_uc011mtk.1_Silent_p.L114L|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	453	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304235	115304235	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115304235T>C	uc004eqh.3	+	3	909	c.702T>C	c.(700-702)ATT>ATC	p.I234I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	234	Helical; Name=5; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3																		---	---	---	---
CXorf61	203413	broad.mit.edu	37	X	115592931	115592931	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115592931A>G	uc004eqj.1	-	2	439	c.319T>C	c.(319-321)TCA>CCA	p.S107P		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	107	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117528054	117528054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117528054C>T	uc004eqn.2	+	5	1288	c.863C>T	c.(862-864)ACC>ATC	p.T288I	WDR44_uc004eqo.2_Missense_Mutation_p.T288I|WDR44_uc011mtr.1_Missense_Mutation_p.T263I|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	288						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117576313	117576313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117576313T>C	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117695459	117695459	+	Silent	SNP	C	T	T	rs112113377	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117695459C>T	uc004eqp.2	+	7	735	c.672C>T	c.(670-672)GAC>GAT	p.D224D	DOCK11_uc004eqq.2_Translation_Start_Site	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	224	PH.				blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117742033	117742033	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117742033A>G	uc004eqp.2	+	25	2745	c.2682_splice	c.e25-2	p.M894_splice	DOCK11_uc004eqq.2_Splice_Site_p.M660_splice	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118123421	118123421	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118123421G>T	uc004eqw.2	+	4	1141	c.1110G>T	c.(1108-1110)AGG>AGT	p.R370S	LONRF3_uc004eqx.2_Missense_Mutation_p.R329S|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R114S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	370					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
SLC25A43	203427	broad.mit.edu	37	X	118586848	118586848	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118586848T>C	uc004erd.2	+	5	1190	c.846T>C	c.(844-846)ATT>ATC	p.I282I	SLC25A43_uc011mtt.1_Missense_Mutation_p.Y225H	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	282	Solcar 3.|Helical; Name=6; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1																		---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118708930	118708930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118708930C>T	uc004erl.2	+	2	287	c.111C>T	c.(109-111)AAC>AAT	p.N37N	UBE2A_uc004erm.2_Silent_p.N37N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	37					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0													Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118723331	118723331	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118723331A>G	uc004erq.2	-	2	2710	c.2057T>C	c.(2056-2058)ATG>ACG	p.M686T	NKRF_uc004err.2_Missense_Mutation_p.M686T	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	686					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118797509	118797509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118797509C>T	uc004erv.2	-	3	542	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.V93M|SEPT6_uc004ert.2_Missense_Mutation_p.V93M|SEPT6_uc004eru.2_Missense_Mutation_p.V93M|SEPT6_uc004erw.2_Missense_Mutation_p.V35M|SEPT6_uc011mtv.1_Missense_Mutation_p.V35M|SEPT6_uc011mtw.1_Missense_Mutation_p.V123M	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	93					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4																		---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118968985	118968985	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118968985A>T	uc004erz.1	-	11	1385	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	UPF3B_uc004esa.1_Silent_p.R423R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	436	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.			R->A: Impairs association with EJC.|R->A: Reduces NMD.|Missing: Abolishes NMD.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3																		---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119005489	119005489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119005489G>A	uc004esb.2	-	1	303	c.88C>T	c.(88-90)CGC>TGC	p.R30C	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	30							nucleic acid binding|zinc ion binding			breast(2)	2																		---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181790	120181790	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120181790G>C	uc004eto.2	+	1	329	c.252G>C	c.(250-252)AAG>AAC	p.K84N		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	84		Substrate (By similarity).			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182575	120182575	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182575A>C	uc004eto.2	+	1	1114	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551552	122551552	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551552A>G	uc004etq.3	+	12	2093	c.1800A>G	c.(1798-1800)CCA>CCG	p.P600P	GRIA3_uc004etr.3_Silent_p.P600P|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.P584P	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	600	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551553	122551553	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551553A>T	uc004etq.3	+	12	2094	c.1801A>T	c.(1801-1803)AAT>TAT	p.N601Y	GRIA3_uc004etr.3_Missense_Mutation_p.N601Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N585Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	601	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122756954	122756954	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122756954A>G	uc004etu.2	-	29	3714	c.3682_splice	c.e29+1	p.D1228_splice	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Intron	NM_001081550	NP_001075019			THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757104	122757104	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122757104T>C	uc004etu.2	-	29	3566	c.3534A>G	c.(3532-3534)TCA>TCG	p.S1178S	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1178					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122830676	122830676	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122830676G>A	uc004etu.2	-	6	394	c.362C>T	c.(361-363)ACA>ATA	p.T121I	THOC2_uc011muh.1_Missense_Mutation_p.T42I|THOC2_uc011mui.1_Missense_Mutation_p.T6I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	121					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123631108	123631108	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123631108T>C	uc004euj.2	-	20	3517	c.3453A>G	c.(3451-3453)ATA>ATG	p.I1151M	ODZ1_uc011muj.1_Missense_Mutation_p.I1150M|ODZ1_uc010nqy.2_Missense_Mutation_p.I1151M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1151	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123663719	123663719	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123663719A>G	uc004euj.2	-	16	2830	c.2766T>C	c.(2764-2766)GAT>GAC	p.D922D	ODZ1_uc011muj.1_Silent_p.D921D|ODZ1_uc010nqy.2_Silent_p.D922D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	922	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	124028174	124028174	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:124028174T>G	uc004euj.2	-	3	570	c.506A>C	c.(505-507)GAC>GCC	p.D169A	ODZ1_uc011muj.1_Missense_Mutation_p.D169A|ODZ1_uc010nqy.2_Missense_Mutation_p.D169A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	169	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125298619G>A	uc004euk.1	-	1	1316	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299369	125299369	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299369G>T	uc004euk.1	-	1	566	c.539C>A	c.(538-540)CCC>CAC	p.P180H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	180	WD 1.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299872	125299872	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299872T>G	uc004euk.1	-	1	63	c.36A>C	c.(34-36)AAA>AAC	p.K12N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	12										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685932	125685932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685932C>A	uc004eul.2	-	1	911	c.660G>T	c.(658-660)TGG>TGT	p.W220C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4																		---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185200	127185200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:127185200T>C	uc004eum.2	-	1	1183	c.986A>G	c.(985-987)AAG>AGG	p.K329R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	329						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5																		---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128877956	128877956	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128877956T>C	uc004eut.1	+	3	387	c.143T>C	c.(142-144)GTC>GCC	p.V48A	XPNPEP2_uc011mum.1_Missense_Mutation_p.V48A	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	48					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129041389	129041389	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129041389G>C	uc004euz.2	+	2	101	c.73G>C	c.(73-75)GAC>CAC	p.D25H	UTP14A_uc011mup.1_Missense_Mutation_p.D25H|UTP14A_uc011muq.1_5'UTR	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	25					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147516	129147516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129147516G>A	uc004evb.1	+	4	882	c.768G>A	c.(766-768)CCG>CCA	p.P256P	BCORL1_uc010nrd.1_Silent_p.P158P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	256	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159025	129159025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129159025T>C	uc004evb.1	+	7	3863	c.3749T>C	c.(3748-3750)TTC>TCC	p.F1250S	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.F12S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129185849	129185849	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129185849T>G	uc004evb.1	+	12	4825	c.4711T>G	c.(4711-4713)TTT>GTT	p.F1571V	BCORL1_uc004evc.1_Missense_Mutation_p.F407V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1571					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129339307	129339307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129339307G>A	uc004evm.2	-	17	2279	c.2125C>T	c.(2125-2127)CGT>TGT	p.R709C		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129804045	129804045	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129804045C>A	uc004evw.2	-	8	1093	c.675G>T	c.(673-675)GAG>GAT	p.E225D	ENOX2_uc004evx.2_Missense_Mutation_p.E196D|ENOX2_uc004evy.2_Missense_Mutation_p.E196D|ENOX2_uc004evv.2_Missense_Mutation_p.E52D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	225					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130408638	130408638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130408638C>T	uc004ewd.2	-	18	3924	c.3686G>A	c.(3685-3687)CGC>CAC	p.R1229H	IGSF1_uc004ewe.3_Missense_Mutation_p.R1223H|IGSF1_uc004ewf.2_Missense_Mutation_p.R1209H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1229	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130416641	130416641	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130416641T>C	uc004ewd.2	-	7	1261	c.1023A>G	c.(1021-1023)CTA>CTG	p.L341L	IGSF1_uc004ewe.3_Silent_p.L330L|IGSF1_uc004ewf.2_Silent_p.L321L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	341	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131211940	131211940	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131211940T>A	uc004ewn.2	-	12	2283	c.2105A>T	c.(2104-2106)GAC>GTC	p.D702V	FRMD7_uc011muy.1_Missense_Mutation_p.D687V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	702					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
RAP2C	57826	broad.mit.edu	37	X	131348297	131348297	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131348297A>T	uc004ewp.2	-	3	1235	c.451T>A	c.(451-453)TCA>ACA	p.S151T	RAP2C_uc004ewo.2_Missense_Mutation_p.S85T|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.S151T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	151					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160099	132160099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132160099G>A	uc010nrm.1	-	6	2620	c.2150C>T	c.(2149-2151)ACT>ATT	p.T717I	USP26_uc011mvf.1_Missense_Mutation_p.T717I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	717					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161101	132161101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132161101G>A	uc010nrm.1	-	6	1618	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	USP26_uc011mvf.1_Missense_Mutation_p.A383V	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MIR450A2	574505	broad.mit.edu	37	X	133674582	133674582	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133674582C>G	hsa-mir-450a-2|MI0003187	-			c.56C>G			MIR450B_hsa-mir-450b|MI0005531_5'Flank|MIR450A1_hsa-mir-450a-1|MI0001652_5'Flank|uc011mvl.1_5'Flank																	0																		---	---	---	---
FAM127C	441518	broad.mit.edu	37	X	134156176	134156176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134156176A>G	uc004eyc.1	-	1	391	c.314T>C	c.(313-315)TTT>TCT	p.F105S		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	105											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FAM127B	26071	broad.mit.edu	37	X	134186058	134186058	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134186058A>G	uc004eyf.2	-	1	164	c.81T>C	c.(79-81)ATT>ATC	p.I27I	FAM127B_uc004eyg.3_Silent_p.I27I	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	27											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZNF75D	7626	broad.mit.edu	37	X	134426266	134426266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134426266A>G	uc004eyp.2	-	4	3200	c.545T>C	c.(544-546)GTA>GCA	p.V182A	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134680680	134680680	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134680680T>A	uc004eyw.3	+	5	846	c.483T>A	c.(481-483)CCT>CCA	p.P161P		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	161	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134988582	134988582	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134988582C>T	uc004ezh.2	+	7	775	c.608C>T	c.(607-609)ACT>ATT	p.T203I	SAGE1_uc010nry.1_Missense_Mutation_p.T172I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135047292	135047292	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135047292C>T	uc004ezi.1	-	4	587	c.287G>A	c.(286-288)CGT>CAT	p.R96H	MMGT1_uc011mvw.1_Missense_Mutation_p.R161H	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	96	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135308164	135308164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135308164G>A	uc004ezt.2	-	13	2134	c.2043C>T	c.(2041-2043)GAC>GAT	p.D681D	MAP7D3_uc004ezs.2_Silent_p.D645D|MAP7D3_uc011mwc.1_Silent_p.D663D|MAP7D3_uc010nsa.1_Silent_p.D639D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	681						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135405392C>T	uc004ezu.1	+	5	817	c.526C>T	c.(526-528)CGT>TGT	p.R176C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135427956	135427956	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135427956C>T	uc004ezu.1	+	6	2382	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	697	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429100	135429100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135429100C>T	uc004ezu.1	+	6	3526	c.3235C>T	c.(3235-3237)CCT>TCT	p.P1079S	GPR112_uc010nsb.1_Missense_Mutation_p.P874S|GPR112_uc010nsc.1_Missense_Mutation_p.P846S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1079	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430773	135430773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135430773A>G	uc004ezu.1	+	6	5199	c.4908A>G	c.(4906-4908)GCA>GCG	p.A1636A	GPR112_uc010nsb.1_Silent_p.A1431A|GPR112_uc010nsc.1_Silent_p.A1403A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1636	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135482127	135482127	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135482127T>A	uc004ezu.1	+	21	8718	c.8427T>A	c.(8425-8427)TGT>TGA	p.C2809*	GPR112_uc010nsb.1_Nonsense_Mutation_p.C2604*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2809	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593206	135593206	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135593206A>T	uc004ezw.2	+	10	1724	c.1302A>T	c.(1300-1302)ACA>ACT	p.T434T	HTATSF1_uc004ezx.2_Silent_p.T434T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	434	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135594180	135594180	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135594180A>G	uc004ezw.2	+	10					HTATSF1_uc004ezx.2_3'UTR	NM_001163280	NP_001156752			HIV-1 Tat specific factor 1						regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
VGLL1	51442	broad.mit.edu	37	X	135631112	135631112	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135631112C>T	uc004ezy.2	+	3	749	c.579C>T	c.(577-579)GGC>GGT	p.G193G	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135732555	135732555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135732555A>G	uc004faa.2	+	2	359	c.287A>G	c.(286-288)AAG>AGG	p.K96R	CD40LG_uc010nsd.2_Missense_Mutation_p.K96R|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	96	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)									Immune_Deficiency_with_Hyper-IgM				---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135760126	135760126	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135760126T>A	uc004fab.2	-						ARHGEF6_uc011mwd.1_Intron|ARHGEF6_uc011mwe.1_Intron	NM_004840	NP_004831			Rac/Cdc42 guanine nucleotide exchange factor 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136651095	136651095	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136651095T>C	uc004fak.2	+	2	1600	c.1095T>C	c.(1093-1095)TGT>TGC	p.C365C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	365	C2H2-type 4.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138697061	138697061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138697061G>A	uc004fau.2	-	10	1636	c.1342C>T	c.(1342-1344)CCA>TCA	p.P448S	MCF2_uc004fav.2_Missense_Mutation_p.P448S|MCF2_uc011mwl.1_Missense_Mutation_p.P409S|MCF2_uc010nsh.1_Missense_Mutation_p.P448S|MCF2_uc011mwm.1_Missense_Mutation_p.P409S|MCF2_uc011mwn.1_Missense_Mutation_p.P593S|MCF2_uc004faw.2_Missense_Mutation_p.P508S|MCF2_uc011mwo.1_Missense_Mutation_p.P508S	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	448					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138713569	138713569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138713569C>T	uc004fau.2	-	3	567	c.273G>A	c.(271-273)TGG>TGA	p.W91*	MCF2_uc004fav.2_Nonsense_Mutation_p.W91*|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Nonsense_Mutation_p.W91*|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Nonsense_Mutation_p.W236*|MCF2_uc004faw.2_Nonsense_Mutation_p.W151*|MCF2_uc011mwo.1_Nonsense_Mutation_p.W151*	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138840024	138840024	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138840024G>T	uc004faz.2	-	23	2751	c.2652C>A	c.(2650-2652)AAC>AAA	p.N884K	ATP11C_uc004fax.2_Missense_Mutation_p.N92K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N884K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	884	Helical; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038105	139038105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139038105A>G	uc004fbb.2	-	3	1058	c.1036T>C	c.(1036-1038)TGT>CGT	p.C346R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	346	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586639	139586639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139586639C>T	uc004fbd.1	-	1	587	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
SPANXE	171489	broad.mit.edu	37	X	140785771	140785771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140785771T>A	uc004fbq.2	-	2	238	c.145A>T	c.(145-147)ACC>TCC	p.T49S		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	49						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969268	140969268	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140969268T>C	uc011mwp.1	+	4	595	c.595T>C	c.(595-597)TAT>CAT	p.Y199H		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	199	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995836	140995836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995836A>G	uc004fbt.2	+	4	2932	c.2646A>G	c.(2644-2646)TCA>TCG	p.S882S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	882							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967329	142967329	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142967329T>A	uc004fca.2	+	1	157	c.127T>A	c.(127-129)TCA>ACA	p.S43T		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	43							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MIR513B	100302253	broad.mit.edu	37	X	146280611	146280611	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146280611A>G	hsa-mir-513b|MI0006648	-			c.35A>G																				0																		---	---	---	---
MIR506	574511	broad.mit.edu	37	X	146312238	146312238	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146312238G>A	hsa-mir-506|MI0003193	-			c.124G>A																				0																		---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147027084	147027084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147027084G>A	uc010nst.2	+	16	1874	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	FMR1_uc004fcj.2_Missense_Mutation_p.R539H|FMR1_uc004fck.3_Missense_Mutation_p.R516H|FMR1_uc004fcl.3_Missense_Mutation_p.R402H|FMR1_uc011mxa.1_Missense_Mutation_p.R209H	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	562	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037982	148037982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037982G>A	uc004fcp.2	+	11	2886	c.2407G>A	c.(2407-2409)GTG>ATG	p.V803M	AFF2_uc004fcq.2_Missense_Mutation_p.V793M|AFF2_uc004fcr.2_Missense_Mutation_p.V764M|AFF2_uc011mxb.1_Missense_Mutation_p.V768M|AFF2_uc004fcs.2_Missense_Mutation_p.V770M|AFF2_uc011mxc.1_Missense_Mutation_p.V444M	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	803					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148068943	148068943	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148068943G>A	uc004fcp.2	+	20	4149	c.3670G>A	c.(3670-3672)GCA>ACA	p.A1224T	AFF2_uc004fcq.2_Missense_Mutation_p.A1214T|AFF2_uc004fcr.2_Missense_Mutation_p.A1185T|AFF2_uc011mxb.1_Missense_Mutation_p.A1189T|AFF2_uc004fcs.2_Missense_Mutation_p.A1189T|AFF2_uc011mxc.1_Missense_Mutation_p.A865T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1224					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148072815	148072815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148072815G>A	uc004fcp.2	+	21	4368	c.3889G>A	c.(3889-3891)GTT>ATT	p.V1297I	AFF2_uc004fcq.2_Missense_Mutation_p.V1287I|AFF2_uc004fcr.2_Missense_Mutation_p.V1258I|AFF2_uc011mxb.1_Missense_Mutation_p.V1262I|AFF2_uc004fcs.2_Missense_Mutation_p.V1262I|AFF2_uc011mxc.1_Missense_Mutation_p.V938I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1297					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148690318	148690318	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148690318A>G	uc011mxq.1	-	4	730	c.419T>C	c.(418-420)CTA>CCA	p.L140P	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.L81P|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.L57P	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	140						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148796244	148796244	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148796244A>G	uc004fdq.2	+						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron	NM_005366	NP_005357			melanoma antigen family A, 11 isoform a							cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797265	148797265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148797265T>G	uc004fdq.2	+	4	296	c.194T>G	c.(193-195)GTT>GGT	p.V65G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V36G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	65						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149631037	149631037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149631037G>T	uc004fee.1	+	2	173	c.97_splice	c.e2-1	p.G33_splice	MAMLD1_uc011mxt.1_Splice_Site|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron	NM_005491	NP_005482			mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638867	149638867	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149638867G>T	uc004fee.1	+	3	1098	c.1022G>T	c.(1021-1023)CGC>CTC	p.R341L	MAMLD1_uc011mxt.1_Missense_Mutation_p.R303L|MAMLD1_uc011mxu.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxv.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxw.1_Missense_Mutation_p.R268L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	341					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTM1	4534	broad.mit.edu	37	X	149814303	149814303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149814303A>G	uc004fef.3	+	9	902	c.826A>G	c.(826-828)ATT>GTT	p.I276V	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.I239V|MTM1_uc011mxz.1_Missense_Mutation_p.I161V|MTM1_uc010nte.2_Missense_Mutation_p.I144V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	276	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149898689	149898689	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149898689A>G	uc004fei.2	+						MTMR1_uc011mya.1_Intron|MTMR1_uc004feg.1_Intron|MTMR1_uc004feh.1_Intron|MTMR1_uc004fej.2_Intron|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819			myotubularin-related protein 1							plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149905205	149905205	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149905205C>T	uc004fei.2	+	10	1330	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W	MTMR1_uc011mya.1_Missense_Mutation_p.R305W|MTMR1_uc004feh.1_Missense_Mutation_p.R407W|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	399	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869432	150869432	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150869432C>T	uc004few.1	+	4	1013	c.623C>T	c.(622-624)GCC>GTC	p.A208V		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	208	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150907014	150907014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150907014C>T	uc004fey.1	+	2	283	c.59C>T	c.(58-60)GCA>GTA	p.A20V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	20	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911846	150911846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911846T>C	uc004fey.1	+	7	1095	c.871T>C	c.(871-873)TGC>CGC	p.C291R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	291	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092384	151092384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092384A>G	uc004fez.2	+	3	404	c.248A>G	c.(247-249)CAA>CGA	p.Q83R	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q83R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	83							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303862	151303862	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151303862A>G	uc004ffk.2	-	5	639	c.231T>C	c.(229-231)GAT>GAC	p.D77D	MAGEA10_uc004ffl.2_Silent_p.D77D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	77											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151366166	151366166	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151366166G>A	uc010ntk.1	-	8	1110	c.870C>T	c.(868-870)GTC>GTT	p.V290V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	290	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900642	151900642	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151900642C>A	uc010ntp.2	-	3	513	c.159G>T	c.(157-159)GTG>GTT	p.V53V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.V53V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	53										skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CETN2	1069	broad.mit.edu	37	X	151997191	151997191	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151997191G>T	uc004fgq.2	-	4	366	c.319C>A	c.(319-321)CTG>ATG	p.L107M	CETN2_uc004fgr.2_Missense_Mutation_p.L36M|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	107	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)												Direct_reversal_of_damage|NER					---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152018925	152018925	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152018925T>A	uc004fgt.1	+	4	486	c.225T>A	c.(223-225)AAT>AAA	p.N75K	NSDHL_uc004fgs.1_Missense_Mutation_p.N75K	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	75					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)													---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152128250	152128250	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152128250A>T	uc010ntv.1	+	17	1451	c.1414A>T	c.(1414-1416)ACT>TCT	p.T472S	ZNF185_uc011myg.1_Missense_Mutation_p.T504S|ZNF185_uc011myh.1_Missense_Mutation_p.T475S|ZNF185_uc011myi.1_Missense_Mutation_p.T443S|ZNF185_uc011myj.1_Missense_Mutation_p.T413S|ZNF185_uc011myk.1_Missense_Mutation_p.T473S|ZNF185_uc004fgw.3_Missense_Mutation_p.T251S|ZNF185_uc004fgu.2_Missense_Mutation_p.T101S|ZNF185_uc004fgv.2_Missense_Mutation_p.T169S|ZNF185_uc004fgx.2_Missense_Mutation_p.T110S	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	472						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA1	4100	broad.mit.edu	37	X	152482523	152482523	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152482523T>G	uc004fhf.2	-	3	708	c.488A>C	c.(487-489)GAC>GCC	p.D163A		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	163	MAGE.			D->A: Abolishes HLA-A1 binding.		cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152814246	152814246	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152814246G>A	uc004fht.1	+	8	1398	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	ATP2B3_uc004fhs.1_Silent_p.V424V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	424	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152821585	152821585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152821585C>T	uc004fht.1	+	12	2263	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	713	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152835151	152835151	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152835151A>C	uc004fht.1	+						ATP2B3_uc004fhs.1_Missense_Mutation_p.T1145P|ATP2B3_uc010nuf.1_Missense_Mutation_p.T168P|ATP2B3_uc004fhu.1_Intron	NM_001001344	NP_001001344			plasma membrane calcium ATPase 3 isoform 3b						ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SLC6A8	6535	broad.mit.edu	37	X	152958731	152958731	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152958731C>T	uc004fib.3	+	6	1204	c.926C>T	c.(925-927)GCG>GTG	p.A309V	SLC6A8_uc004fic.3_Missense_Mutation_p.A309V|SLC6A8_uc011myx.1_Missense_Mutation_p.A194V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	309	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)													---	---	---	---
ABCD1	215	broad.mit.edu	37	X	152991452	152991452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152991452C>T	uc004fif.2	+	1	1130	c.731C>T	c.(730-732)TCG>TTG	p.S244L	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	244	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153095697	153095697	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153095697C>T	uc004fiz.1	-	1	307	c.57G>A	c.(55-57)CTG>CTA	p.L19L	PDZD4_uc004fiy.1_5'Flank|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.L19L|PDZD4_uc011mze.1_Silent_p.L19L	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	19						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153132191	153132191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153132191C>T	uc004fjb.2	-	18	2452	c.2344G>A	c.(2344-2346)GTG>ATG	p.V782M	L1CAM_uc004fjc.2_Missense_Mutation_p.V782M|L1CAM_uc010nuo.2_Missense_Mutation_p.V777M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	782	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153133891	153133891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153133891C>T	uc004fjb.2	-	13	1677	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	L1CAM_uc004fjc.2_Silent_p.G523G|L1CAM_uc010nuo.2_Silent_p.G518G|L1CAM_uc004fjd.1_Silent_p.G337G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	523	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153136295	153136295	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153136295C>A	uc004fjb.2	-	6	752	c.644G>T	c.(643-645)GGC>GTC	p.G215V	L1CAM_uc004fjc.2_Missense_Mutation_p.G215V|L1CAM_uc010nuo.2_Missense_Mutation_p.G210V|L1CAM_uc004fjd.1_Missense_Mutation_p.G29V|L1CAM_uc004fje.1_Missense_Mutation_p.G210V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	215	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171979	153171979	+	Missense_Mutation	SNP	G	A	A	rs145953185	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171979G>A	uc004fjh.3	+	3	984	c.913G>A	c.(913-915)GCG>ACG	p.A305T	AVPR2_uc004fjg.3_Missense_Mutation_p.A94T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171981	153171981	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171981G>A	uc004fjh.3	+	3	986	c.915G>A	c.(913-915)GCG>GCA	p.A305A	AVPR2_uc004fjg.3_Silent_p.A94A|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209857	153209857	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153209857T>G	uc004fjo.1	-	2	211	c.41A>C	c.(40-42)GAG>GCG	p.E14A	RENBP_uc011mzh.1_Missense_Mutation_p.E14A|RENBP_uc011mzi.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	14					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153295906	153295906	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153295906C>T	uc004fjv.2	-	4	1599	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MECP2_uc004fjw.2_Missense_Mutation_p.R470H	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	458					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153298000	153298000	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153298000T>C	uc004fjv.2	-	3	261	c.35A>G	c.(34-36)AAG>AGG	p.K12R	MECP2_uc004fjw.2_Missense_Mutation_p.K24R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	12					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153533696	153533696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153533696G>A	uc004fkg.2	+	2	361	c.175G>A	c.(175-177)GTG>ATG	p.V59M	TKTL1_uc011mzl.1_Missense_Mutation_p.V53M|TKTL1_uc011mzm.1_Missense_Mutation_p.V59M|TKTL1_uc004fkh.2_Missense_Mutation_p.V3M	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	59					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153579955	153579955	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153579955G>A	uc004fkk.2	-	43	7266	c.7017C>T	c.(7015-7017)AGC>AGT	p.S2339S	FLNA_uc004fki.2_Silent_p.S382S|FLNA_uc011mzn.1_Silent_p.S472S|FLNA_uc010nuu.1_Silent_p.S2331S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2339	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153626864	153626864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153626864G>A	uc004fkm.2	+	2	192	c.4G>A	c.(4-6)GGC>AGC	p.G2S	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.G2S|RPL10_uc004fkn.1_Missense_Mutation_p.G2S|RPL10_uc004fkp.1_Missense_Mutation_p.G2S|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153696426	153696426	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153696426T>C	uc004flm.2	+	22	3995	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1274	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153699468	153699468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153699468T>C	uc004flm.2	+	31	5350	c.5177T>C	c.(5176-5178)GTG>GCG	p.V1726A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1726	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
SLC10A3	8273	broad.mit.edu	37	X	153717218	153717218	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153717218C>T	uc004flq.2	-	3	326	c.62G>A	c.(61-63)GGT>GAT	p.G21D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.G21D|SLC10A3_uc004flp.2_Missense_Mutation_p.G21D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	21					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153940895	153940895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153940895G>A	uc004fmj.1	-	4	723	c.675C>T	c.(673-675)TGC>TGT	p.C225C	GAB3_uc004fmk.1_Silent_p.C226C|GAB3_uc010nve.1_Silent_p.C226C|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	225										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153941521	153941521	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153941521A>C	uc004fmj.1	-	3	602	c.554T>G	c.(553-555)GTT>GGT	p.V185G	GAB3_uc004fmk.1_Missense_Mutation_p.V186G|GAB3_uc010nve.1_Missense_Mutation_p.V186G|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	185										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	154003323	154003323	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154003323T>A	uc004fmm.2	+						DKC1_uc010nvf.2_Intron|SNORA56_uc004fmo.2_RNA	NM_001363	NP_001354			dyskerin isoform 1						cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													Congenital_Dyskeratosis				---	---	---	---
MPP1	4354	broad.mit.edu	37	X	154009926	154009926	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154009926C>T	uc004fmp.1	-	10	1213	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	MPP1_uc010nvg.1_Silent_p.V346V|MPP1_uc011mzv.1_Silent_p.V336V|MPP1_uc004fmq.1_Silent_p.V320V|MPP1_uc011mzw.1_Silent_p.V349V	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	366	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
F8	2157	broad.mit.edu	37	X	154130417	154130417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154130417T>C	uc004fmt.2	-	19	6195	c.6024A>G	c.(6022-6024)TTA>TTG	p.L2008L	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2008	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154157568	154157568	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154157568G>T	uc004fmt.2	-	14	4668	c.4497C>A	c.(4495-4497)CTC>CTA	p.L1499L		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1499	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154158736	154158736	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154158736T>G	uc004fmt.2	-	14	3500	c.3329A>C	c.(3328-3330)AAT>ACT	p.N1110T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1110	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
VBP1	7411	broad.mit.edu	37	X	154448586	154448586	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154448586T>C	uc004fnc.2	+	2	277	c.218_splice	c.e2+2	p.R73_splice	VBP1_uc004fnd.2_Splice_Site_p.R36_splice	NM_003372	NP_003363			von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154741379	154741379	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154741379G>A	uc004fnn.2	-	5	879	c.713C>T	c.(712-714)GCT>GTT	p.A238V	TMLHE_uc004fno.2_Missense_Mutation_p.A238V|TMLHE_uc004fnp.3_Missense_Mutation_p.A238V	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	238					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
SAMD11	148398	broad.mit.edu	37	1	879321	879321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:879321G>A	uc001abw.1	+	14	1914	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	SAMD11_uc001abx.1_Missense_Mutation_p.A475T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	612						nucleus					0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	985290	985290	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:985290C>T	uc001ack.1	+	27	4802	c.4752C>T	c.(4750-4752)ACC>ACT	p.T1584T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1584	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	986870	986870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:986870A>G	uc001ack.1	+	32	5458	c.5408A>G	c.(5407-5409)CAC>CGC	p.H1803R		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1803	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	987126	987126	+	Missense_Mutation	SNP	C	T	T	rs138113721		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:987126C>T	uc001ack.1	+	33	5632	c.5582C>T	c.(5581-5583)GCG>GTG	p.A1861V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1861					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
UBE2J2	118424	broad.mit.edu	37	1	1190610	1190610	+	Silent	SNP	G	A	A	rs147177041		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1190610G>A	uc001adn.2	-	7	1063	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	UBE2J2_uc001adm.2_Silent_p.Y216Y|UBE2J2_uc001ado.2_Silent_p.Y267Y|UBE2J2_uc001adp.2_Silent_p.Y251Y|UBE2J2_uc001adq.2_Silent_p.Y199Y|UBE2J2_uc001adr.2_Silent_p.Y199Y|UBE2J2_uc001ads.2_Silent_p.Y199Y	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	251	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)														---	---	---	---
CPSF3L	54973	broad.mit.edu	37	1	1249150	1249150	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1249150C>T	uc001aee.1	-	9	977	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.A313T|CPSF3L_uc009vjz.1_Missense_Mutation_p.A285T|CPSF3L_uc010nyj.1_Missense_Mutation_p.A278T|CPSF3L_uc001aeg.1_Missense_Mutation_p.A183T|CPSF3L_uc001aeh.1_Missense_Mutation_p.A206T|CPSF3L_uc001aei.1_Missense_Mutation_p.A209T|CPSF3L_uc001aej.1_Missense_Mutation_p.A134T|CPSF3L_uc001aek.1_Missense_Mutation_p.A49T	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	307						Golgi apparatus|nucleus	hydrolase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)														---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1275509	1275509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1275509C>T	uc001aer.3	-	8	865	c.818G>A	c.(817-819)CGT>CAT	p.R273H	DVL1_uc002quu.2_Translation_Start_Site|DVL1_uc009vka.2_Translation_Start_Site|DVL1_uc001aeu.1_Translation_Start_Site	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	273	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1325706	1325706	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1325706C>T	uc001afi.2	-	8	942	c.910G>A	c.(910-912)GCT>ACT	p.A304T	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A82T|CCNL2_uc001afg.1_Missense_Mutation_p.A82T|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	304					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)														---	---	---	---
MORN1	79906	broad.mit.edu	37	1	2288909	2288909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2288909G>A	uc001ajb.1	-	10	1019	c.998C>T	c.(997-999)GCC>GTC	p.A333V	MORN1_uc009vld.2_Missense_Mutation_p.A309V|MORN1_uc001ajd.1_Missense_Mutation_p.A333V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)														---	---	---	---
PANK4	55229	broad.mit.edu	37	1	2447082	2447082	+	Silent	SNP	G	A	A	rs143863716	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2447082G>A	uc001ajm.1	-	10	1302	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PANK4_uc010nza.1_Silent_p.Y392Y	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	431					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3394499	3394499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3394499G>A	uc001akg.3	+	11	1782	c.1534G>A	c.(1534-1536)GAA>AAA	p.E512K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E224K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E224K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E216K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3395096	3395096	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3395096C>T	uc001akg.3	+	12	1982	c.1734C>T	c.(1732-1734)TCC>TCT	p.S578S	ARHGEF16_uc001aki.2_Silent_p.S290S|ARHGEF16_uc001akj.2_Silent_p.S290S|ARHGEF16_uc010nzh.1_Silent_p.S282S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3417801	3417801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3417801C>T	uc001akl.2	-	19	2613	c.2386G>A	c.(2386-2388)GAC>AAC	p.D796N	MEGF6_uc001akk.2_Missense_Mutation_p.D691N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	796	EGF-like 13.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
WDR8	49856	broad.mit.edu	37	1	3552529	3552529	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3552529T>C	uc001ako.2	-	6	690	c.582A>G	c.(580-582)GCA>GCG	p.A194A	WDR8_uc001akn.3_Silent_p.A194A|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	194	WD 3.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3669074	3669074	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3669074C>A	uc001akv.2	+	1	110	c.29C>A	c.(28-30)CCC>CAC	p.P10H		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	10										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	5965824	5965824	+	Missense_Mutation	SNP	G	A	A	rs12093500	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:5965824G>A	uc001alq.1	-	14	1897	c.1631C>T	c.(1630-1632)GCC>GTC	p.A544V	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	544					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	6008211	6008211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6008211A>G	uc001alq.1	-	8	1177	c.911T>C	c.(910-912)GTT>GCT	p.V304A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	304					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6172337	6172337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6172337T>A	uc001amb.1	-	35	5103	c.5003A>T	c.(5002-5004)GAT>GTT	p.D1668V	CHD5_uc001alz.1_Missense_Mutation_p.D525V|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6202212	6202212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6202212A>G	uc001amb.1	-	15	2512	c.2412T>C	c.(2410-2412)AGT>AGC	p.S804S	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6311498	6311498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6311498C>A	uc001amp.1	-	4	1139	c.879G>T	c.(877-879)CTG>CTT	p.L293L	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314057	6314057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6314057G>A	uc001amp.1	-	3	767	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	169	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
TNFRSF25	8718	broad.mit.edu	37	1	6521665	6521665	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6521665G>T	uc001ane.2	-	10	1171	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	TNFRSF25_uc001ana.2_Silent_p.I178I|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.I134I|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.I324I|TNFRSF25_uc001ang.2_Silent_p.I316I|TNFRSF25_uc001anh.2_Silent_p.I370I	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	361	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6649079	6649079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6649079T>C	uc009vmc.1	+	11	1997	c.1874T>C	c.(1873-1875)GTG>GCG	p.V625A	ZBTB48_uc001anx.2_Missense_Mutation_p.V625A|ZBTB48_uc009vmd.1_Missense_Mutation_p.V625A|ZBTB48_uc001any.1_Missense_Mutation_p.V263A	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	625						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6712987	6712987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6712987C>T	uc001aof.2	-	6	638	c.532G>A	c.(532-534)GCC>ACC	p.A178T	DNAJC11_uc010nzt.1_Missense_Mutation_p.A140T|DNAJC11_uc001aog.2_Missense_Mutation_p.A178T|DNAJC11_uc010nzu.1_Missense_Mutation_p.A88T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	178					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6885143	6885143	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6885143T>C	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7797373	7797373	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7797373G>A	uc001aoi.2	+	15	3608	c.3401G>A	c.(3400-3402)CGT>CAT	p.R1134H	CAMTA1_uc010nzv.1_Missense_Mutation_p.R221H|CAMTA1_uc001aok.3_Missense_Mutation_p.R177H|CAMTA1_uc001aoj.2_Missense_Mutation_p.R90H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7798045	7798045	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7798045T>G	uc001aoi.2	+	16	3892	c.3685T>G	c.(3685-3687)TCT>GCT	p.S1229A	CAMTA1_uc010nzv.1_Missense_Mutation_p.S316A|CAMTA1_uc001aok.3_Missense_Mutation_p.S272A|CAMTA1_uc001aoj.2_Missense_Mutation_p.S185A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
PER3	8863	broad.mit.edu	37	1	7887864	7887864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887864C>T	uc001aoo.2	+	17	3026	c.2851C>T	c.(2851-2853)CAA>TAA	p.Q951*	PER3_uc009vmg.1_Nonsense_Mutation_p.Q959*|PER3_uc009vmh.1_Nonsense_Mutation_p.Q952*|PER3_uc001aop.2_Nonsense_Mutation_p.Q959*|PER3_uc010nzw.1_Nonsense_Mutation_p.Q640*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8418702	8418702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8418702G>A	uc001ape.2	-	21	4703	c.3893C>T	c.(3892-3894)ACC>ATC	p.T1298I	RERE_uc001apf.2_Missense_Mutation_p.T1298I|RERE_uc001apd.2_Missense_Mutation_p.T744I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1298					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8568729	8568729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8568729A>G	uc001ape.2	-	9	1646	c.836T>C	c.(835-837)CTG>CCG	p.L279P	RERE_uc001apf.2_Missense_Mutation_p.L279P|RERE_uc010nzx.1_Missense_Mutation_p.L11P|RERE_uc001aph.1_Missense_Mutation_p.L279P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	279	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8684437	8684437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8684437A>G	uc001ape.2	-	4	1138	c.328T>C	c.(328-330)TGT>CGT	p.C110R	RERE_uc001apf.2_Missense_Mutation_p.C110R|RERE_uc001aph.1_Missense_Mutation_p.C110R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	110	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
GPR157	80045	broad.mit.edu	37	1	9188749	9188749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9188749C>T	uc001apq.1	-	1	481	c.338G>A	c.(337-339)CGC>CAC	p.R113H	GPR157_uc010oad.1_Missense_Mutation_p.R113H|GPR157_uc001apr.2_Missense_Mutation_p.R113H|GPR157_uc001aps.2_Silent_p.A161A	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	113	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
CTNNBIP1	56998	broad.mit.edu	37	1	9910819	9910819	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9910819A>G	uc001aqk.1	-	6	510	c.203T>C	c.(202-204)GTG>GCG	p.V68A	CTNNBIP1_uc001aql.1_Missense_Mutation_p.V68A	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	68					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10165777	10165777	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10165777T>A	uc001aqs.3	+	6	1497	c.784T>A	c.(784-786)TCC>ACC	p.S262T	UBE4B_uc001aqr.3_Missense_Mutation_p.S262T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	262					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10231209	10231209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10231209G>A	uc001aqs.3	+	25	4060	c.3347G>A	c.(3346-3348)CGA>CAA	p.R1116Q	UBE4B_uc001aqr.3_Missense_Mutation_p.R987Q|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R571Q|UBE4B_uc001aqu.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1116					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10423365	10423365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10423365A>G	uc001aqx.3	+	41	4531	c.4329A>G	c.(4327-4329)GAA>GAG	p.E1443E	KIF1B_uc001aqw.3_Silent_p.E1397E|KIF1B_uc001aqy.2_Silent_p.E1417E|KIF1B_uc001aqz.2_Silent_p.E1443E|KIF1B_uc001ara.2_Silent_p.E1403E|KIF1B_uc001arb.2_Silent_p.E1429E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1443					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DFFA	1676	broad.mit.edu	37	1	10523179	10523179	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10523179T>C	uc001arj.2	-	5	817	c.719A>G	c.(718-720)CAC>CGC	p.H240R	DFFA_uc001ark.2_Missense_Mutation_p.H240R	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	240					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10714658	10714658	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10714658A>G	uc001aro.2	-						CASZ1_uc001arp.1_Intron|CASZ1_uc009vmx.2_Intron	NM_001079843	NP_001073312			castor homolog 1, zinc finger isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10720009	10720009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10720009C>T	uc001aro.2	-	6	1410	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	CASZ1_uc001arp.1_Missense_Mutation_p.A364T|CASZ1_uc009vmx.2_Missense_Mutation_p.A388T|CASZ1_uc001arq.1_Missense_Mutation_p.A223T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187061	11187061	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187061T>C	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11206822	11206822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11206822T>C	uc001asd.2	-	32	4718	c.4597A>G	c.(4597-4599)ACC>GCC	p.T1533A		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1533	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11313937	11313937	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11313937T>C	uc001asd.2	-	6	920	c.799A>G	c.(799-801)ATC>GTC	p.I267V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	267					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11580746	11580746	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11580746C>T	uc001ash.3	+	10	2341	c.2203C>T	c.(2203-2205)CTG>TTG	p.L735L	PTCHD2_uc001asi.1_Silent_p.L735L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	735	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11591735	11591735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11591735C>T	uc001ash.3	+	17	3481	c.3343C>T	c.(3343-3345)CGC>TGC	p.R1115C		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1115	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11595642	11595642	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11595642G>A	uc001ash.3	+	20	3895	c.3757G>A	c.(3757-3759)GTC>ATC	p.V1253I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1253	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12018613	12018613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12018613A>G	uc001atm.2	+	9	975	c.884A>G	c.(883-885)GAA>GGA	p.E295G	PLOD1_uc010obb.1_Missense_Mutation_p.E342G	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	295					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12198386	12198386	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12198386A>G	uc001atq.2	+	14	1658	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNFRSF8_uc010obc.1_Missense_Mutation_p.Y367C|TNFRSF8_uc001atr.2_Missense_Mutation_p.Y16C|TNFRSF8_uc001ats.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	479	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AADACL4	343066	broad.mit.edu	37	1	12726188	12726188	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12726188T>A	uc001auf.2	+	4	666	c.666T>A	c.(664-666)TAT>TAA	p.Y222*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	222	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)														---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12855624	12855624	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12855624T>C	uc001auj.1	+	4	1007	c.904T>C	c.(904-906)TAT>CAT	p.Y302H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	302											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
LOC649330	649330	broad.mit.edu	37	1	12907311	12907311	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12907311C>T	uc009vno.2	-	1	927	c.832G>A	c.(832-834)GAG>AAG	p.E278K	HNRNPCL1_uc010obf.1_Missense_Mutation_p.E278K	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	278							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14059379	14059379	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14059379T>C	uc001avi.2	+	4	1087	c.231_splice	c.e4+2	p.E77_splice	PRDM2_uc001avg.2_Splice_Site_p.E77_splice|PRDM2_uc001avh.2_Splice_Site_p.E77_splice|PRDM2_uc001avj.2_Intron	NM_012231	NP_036363			retinoblastoma protein-binding zinc finger							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105882	14105882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14105882C>T	uc001avi.2	+	8	2448	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A531V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.A288V|PRDM2_uc001avk.2_Missense_Mutation_p.A330V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	531						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108310	14108310	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108310A>G	uc001avi.2	+	8	4876	c.4020A>G	c.(4018-4020)AAA>AAG	p.K1340K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.K1340K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.K1139K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1340	C2H2-type 7; atypical.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108484	14108484	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108484A>T	uc001avi.2	+	8	5050	c.4194A>T	c.(4192-4194)GGA>GGT	p.G1398G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1398G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1197G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1398	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108568	14108568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108568T>A	uc001avi.2	+	8	5134	c.4278T>A	c.(4276-4278)AAT>AAA	p.N1426K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.N1426K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.N1225K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1426	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108802	14108802	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108802T>C	uc001avi.2	+	8	5368	c.4512T>C	c.(4510-4512)AGT>AGC	p.S1504S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1504S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1303S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1504						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15390079	15390079	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15390079C>T	uc001avm.3	+	7	1340	c.1059C>T	c.(1057-1059)CCC>CCT	p.P353P	KAZ_uc009vog.1_Silent_p.P353P|KAZ_uc010obj.1_Silent_p.P353P|KAZ_uc001avo.2_Silent_p.P347P|KAZ_uc001avp.2_Silent_p.P259P|KAZ_uc001avq.2_Silent_p.P259P|KAZ_uc001avr.2_Missense_Mutation_p.R255W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	353					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
CELA2B	51032	broad.mit.edu	37	1	15812448	15812448	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15812448C>T	uc001awl.2	+	6	571	c.546C>T	c.(544-546)GAC>GAT	p.D182D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
CASP9	842	broad.mit.edu	37	1	15833485	15833485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15833485C>T	uc001awn.2	-	4	634	c.539G>A	c.(538-540)CGC>CAC	p.R180H	CASP9_uc001awm.1_Missense_Mutation_p.R180H|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.R24H|CASP9_uc009voi.2_Missense_Mutation_p.R24H|CASP9_uc010obm.1_Missense_Mutation_p.R97H|CASP9_uc001awq.2_Missense_Mutation_p.R97H	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	180					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)														---	---	---	---
PLEKHM2	23207	broad.mit.edu	37	1	16056303	16056303	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16056303C>T	uc010obo.1	+	14	2314	c.2087C>T	c.(2086-2088)GCT>GTT	p.A696V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	696					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16095085	16095085	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16095085A>G	uc001axd.1	+	6	944	c.501A>G	c.(499-501)CCA>CCG	p.P167P	FBLIM1_uc001axe.1_Silent_p.P167P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P167P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	167	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)														---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16263760	16263760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16263760C>T	uc001axk.1	+	12	10333	c.10129C>T	c.(10129-10131)CCC>TCC	p.P3377S	SPEN_uc010obp.1_Missense_Mutation_p.P3336S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3377	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
ZBTB17	7709	broad.mit.edu	37	1	16274869	16274869	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16274869A>T	uc001axl.3	-	3	361	c.122T>A	c.(121-123)GTG>GAG	p.V41E	ZBTB17_uc010obq.1_Intron|ZBTB17_uc010obr.1_Missense_Mutation_p.V41E|ZBTB17_uc010obs.1_5'UTR|ZBTB17_uc010obt.1_Missense_Mutation_p.V41E|ZBTB17_uc010obu.1_Intron|ZBTB17_uc009vom.1_Missense_Mutation_p.V41E|ZBTB17_uc010obv.1_Missense_Mutation_p.V41E|ZBTB17_uc009von.1_Missense_Mutation_p.V44E	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	41	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16382999	16382999	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16382999T>C	uc001axw.3	+	19	2092	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V671A|CLCNKB_uc001axy.3_Missense_Mutation_p.V501A	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	671	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)												OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16529008	16529008	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16529008T>G	uc001ayc.1	-	13	2106	c.1969A>C	c.(1969-1971)AGC>CGC	p.S657R	ARHGEF19_uc009voo.1_Missense_Mutation_p.S10R|ARHGEF19_uc001ayb.1_Missense_Mutation_p.S134R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	657	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
C1orf144	26099	broad.mit.edu	37	1	16721643	16721643	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16721643C>T	uc001aym.3	+	4					C1orf144_uc010ocb.1_Silent_p.G119G|C1orf144_uc001ayi.3_3'UTR|C1orf144_uc001ayk.3_3'UTR	NM_001114600	NP_001108072			putative MAPK activating protein PM20,PM21												0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17313105	17313105	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17313105C>A	uc001baa.2	-	28	3448	c.3258G>T	c.(3256-3258)GCG>GCT	p.A1086A	ATP13A2_uc001azz.1_Intron|ATP13A2_uc001bab.2_Silent_p.A1081A|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1086	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17316648	17316648	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17316648A>G	uc001baa.2	-	21	2576	c.2386T>C	c.(2386-2388)TCC>CCC	p.S796P	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.S791P|ATP13A2_uc001bac.2_Missense_Mutation_p.S791P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	796	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17332055	17332055	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17332055C>T	uc001baa.2	-						ATP13A2_uc001bab.2_Intron|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372			ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17354302	17354302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17354302T>C	uc001bae.2	-	5	633	c.482A>G	c.(481-483)GAT>GGT	p.D161G		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	161					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17410313	17410313	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17410313A>T	uc001baf.2	-	9	1040	c.958T>A	c.(958-960)TTC>ATC	p.F320I	PADI2_uc010ocm.1_Missense_Mutation_p.F204I|PADI2_uc001bag.1_Missense_Mutation_p.F320I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	320					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17596816	17596816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17596816G>A	uc001bai.2	+	7	781	c.741G>A	c.(739-741)GAG>GAA	p.E247E		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	247					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17609396	17609396	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17609396T>A	uc001bai.2	+	16	1857	c.1817T>A	c.(1816-1818)ATC>AAC	p.I606N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	606					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17720850	17720850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17720850A>G	uc001bak.1	+	12	1237	c.1237A>G	c.(1237-1239)ATG>GTG	p.M413V		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	405					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17747324	17747324	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17747324T>G	uc001bal.2	-	6	792	c.745A>C	c.(745-747)ATA>CTA	p.I249L	RCC2_uc001bam.2_Missense_Mutation_p.I249L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	249	RCC1 3.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17749252	17749252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17749252C>T	uc001bal.2	-	4	651	c.604G>A	c.(604-606)GAA>AAA	p.E202K	RCC2_uc001bam.2_Missense_Mutation_p.E202K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	202	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18021710	18021710	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18021710G>A	uc001ban.2	+	28	3401	c.3242G>A	c.(3241-3243)GGC>GAC	p.G1081D	ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1042D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1037D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G842D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G854D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G784D|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G105D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1081					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19403330	19403330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19403330C>T	uc001bbi.2	-	105	15395	c.15391G>A	c.(15391-15393)GAC>AAC	p.D5131N	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.D26N|UBR4_uc010ocv.1_Missense_Mutation_p.D654N|UBR4_uc009vph.2_Missense_Mutation_p.D786N|UBR4_uc010ocw.1_Missense_Mutation_p.D795N|UBR4_uc001bbg.2_Missense_Mutation_p.D842N|UBR4_uc001bbh.2_Missense_Mutation_p.D840N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5131					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19440266	19440266	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19440266T>C	uc001bbi.2	-	77	11388	c.11384A>G	c.(11383-11385)TAC>TGC	p.Y3795C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3795					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)												OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19447850	19447850	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19447850C>A	uc001bbi.2	-	68	9978	c.9974G>T	c.(9973-9975)TGT>TTT	p.C3325F	UBR4_uc001bbk.1_Missense_Mutation_p.C972F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3325					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19467907	19467907	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19467907G>A	uc001bbi.2	-	57	8426	c.8422C>T	c.(8422-8424)CCT>TCT	p.P2808S	UBR4_uc001bbk.1_Missense_Mutation_p.P490S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2808					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19480342	19480342	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19480342T>C	uc001bbi.2	-	45	6554	c.6550A>G	c.(6550-6552)ACA>GCA	p.T2184A	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.T121A|UBR4_uc001bbm.1_Missense_Mutation_p.T1396A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2184					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
KIAA0090	23065	broad.mit.edu	37	1	19566468	19566468	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19566468T>C	uc001bbo.2	-	8	841	c.798A>G	c.(796-798)TTA>TTG	p.L266L	KIAA0090_uc001bbp.2_Silent_p.L266L|KIAA0090_uc001bbq.2_Silent_p.L266L|KIAA0090_uc001bbr.2_Silent_p.L244L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	266	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
AKR7A2	8574	broad.mit.edu	37	1	19633822	19633822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19633822T>C	uc001bbw.2	-	4	696	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	AKR7A2_uc001bbx.2_Missense_Mutation_p.Y190C	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	225					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19653883	19653883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19653883G>A	uc001bby.2	+	8	1133	c.781G>A	c.(781-783)GGC>AGC	p.G261S	PQLC2_uc001bbz.2_Missense_Mutation_p.G196S|PQLC2_uc001bca.2_Missense_Mutation_p.G261S|PQLC2_uc001bcb.2_Missense_Mutation_p.G150S|PQLC2_uc001bcc.2_Missense_Mutation_p.G150S	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	261	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19655099	19655099	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19655099A>G	uc001bby.2	+	9	1190	c.838A>G	c.(838-840)ACC>GCC	p.T280A	PQLC2_uc001bbz.2_Missense_Mutation_p.T215A|PQLC2_uc001bca.2_Missense_Mutation_p.T280A|PQLC2_uc001bcb.2_Missense_Mutation_p.T169A|PQLC2_uc001bcc.2_Missense_Mutation_p.T169A	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	280	Cytoplasmic (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
OTUD3	23252	broad.mit.edu	37	1	20233069	20233069	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20233069C>A	uc001bcs.3	+	7	1099	c.980C>A	c.(979-981)CCT>CAT	p.P327H		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	327											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PLA2G2C	391013	broad.mit.edu	37	1	20490512	20490512	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20490512C>A	uc009vpq.1	-	3	425	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21044008	21044008	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21044008G>A	uc001bdr.3	-	1	310	c.192C>T	c.(190-192)ACC>ACT	p.T64T	KIF17_uc001bds.3_Silent_p.T64T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	64	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---
HP1BP3	50809	broad.mit.edu	37	1	21097562	21097562	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21097562C>A	uc001bdw.1	-	6	655	c.515G>T	c.(514-516)TGC>TTC	p.C172F	HP1BP3_uc001bdv.1_Missense_Mutation_p.C134F|HP1BP3_uc010odh.1_Missense_Mutation_p.C134F|HP1BP3_uc001bdy.1_Missense_Mutation_p.C172F|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.C171F|HP1BP3_uc010odg.1_Missense_Mutation_p.C20F	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	172	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21144005	21144005	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21144005A>T	uc001bec.2	-	29	4483	c.4227T>A	c.(4225-4227)AGT>AGA	p.S1409R	EIF4G3_uc010odi.1_Missense_Mutation_p.S1013R|EIF4G3_uc010odj.1_Missense_Mutation_p.S1408R|EIF4G3_uc009vpz.2_Missense_Mutation_p.S1129R|EIF4G3_uc001bed.2_Missense_Mutation_p.S1409R|EIF4G3_uc001bef.2_Missense_Mutation_p.S1445R|EIF4G3_uc001bee.2_Missense_Mutation_p.S1415R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1409					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21226422	21226422	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21226422C>A	uc001bec.2	-	11	1855	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D	EIF4G3_uc010odi.1_Missense_Mutation_p.E137D|EIF4G3_uc010odj.1_Missense_Mutation_p.E532D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E253D|EIF4G3_uc001bed.2_Missense_Mutation_p.E533D|EIF4G3_uc001bef.2_Missense_Mutation_p.E532D|EIF4G3_uc001bee.2_Missense_Mutation_p.E539D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	533					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
ALPL	249	broad.mit.edu	37	1	21887136	21887136	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21887136A>G	uc001bet.2	+	3	336	c.79A>G	c.(79-81)AAG>GAG	p.K27E	ALPL_uc010odn.1_5'UTR|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_5'UTR|ALPL_uc001beu.3_Missense_Mutation_p.K27E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	27					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)													---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21934800	21934800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21934800A>G	uc001bex.2	-	17	1460	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	RAP1GAP_uc001bev.2_Missense_Mutation_p.L401P|RAP1GAP_uc001bew.2_Missense_Mutation_p.L465P|RAP1GAP_uc001bey.2_Missense_Mutation_p.L401P	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	401					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936606	21936606	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21936606C>T	uc001bex.2	-						RAP1GAP_uc001bev.2_Intron|RAP1GAP_uc001bew.2_Intron|RAP1GAP_uc001bey.2_Intron	NM_002885	NP_002876			RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
LDLRAD2	401944	broad.mit.edu	37	1	22147988	22147988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22147988C>T	uc001bfg.1	+	4	876	c.689C>T	c.(688-690)ACC>ATC	p.T230I	LDLRAD2_uc001bfh.1_RNA	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	230	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)														---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22150131	22150131	+	Silent	SNP	G	A	A	rs147161785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22150131G>A	uc001bfj.2	-	96	13021	c.12981C>T	c.(12979-12981)AAC>AAT	p.N4327N	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.N344N|HSPG2_uc009vqd.2_Silent_p.N4328N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4327	Laminin G-like 3.			N->A: Retains proper folding. Reduced calcium ion binding.	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	A	A	rs146179360	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22154901G>A	uc001bfj.2	-	89	12296	c.12256C>T	c.(12256-12258)CGG>TGG	p.R4086W	HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22832620	22832620	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22832620A>G	uc001bft.2	+	7	1757	c.1246A>G	c.(1246-1248)ACG>GCG	p.T416A	ZBTB40_uc001bfu.2_Missense_Mutation_p.T416A|ZBTB40_uc009vqi.1_Missense_Mutation_p.T304A|ZBTB40_uc001bfv.1_Missense_Mutation_p.T45A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	416					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)														---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22924701	22924701	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22924701T>C	uc001bfx.1	+	12	2299	c.2174T>C	c.(2173-2175)CTG>CCG	p.L725P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
C1QA	712	broad.mit.edu	37	1	22964157	22964157	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22964157G>A	uc001bfy.2	+	2	133	c.48G>A	c.(46-48)TCG>TCA	p.S16S	C1QA_uc001bfz.2_Silent_p.S16S	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	16					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974134	22974134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22974134C>T	uc001bgc.3	+	3	699	c.596C>T	c.(595-597)ACC>ATC	p.T199I	C1QC_uc001bga.3_Missense_Mutation_p.T199I|C1QC_uc001bgb.2_Missense_Mutation_p.T199I	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	199	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23107938	23107938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23107938C>T	uc009vqj.1	+	2	231	c.86C>T	c.(85-87)GCG>GTG	p.A29V	EPHB2_uc001bge.2_Missense_Mutation_p.A29V|EPHB2_uc001bgf.2_Missense_Mutation_p.A29V|EPHB2_uc010odu.1_Missense_Mutation_p.A29V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	29	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23405623	23405623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23405623T>C	uc001bgi.2	+	15	2085	c.1936T>C	c.(1936-1938)TGG>CGG	p.W646R	KDM1A_uc001bgj.2_Missense_Mutation_p.W670R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	646	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2																		---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23420507	23420507	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23420507T>A	uc001bgk.2	-	4	632	c.248A>T	c.(247-249)AAG>ATG	p.K83M	LUZP1_uc010odv.1_Missense_Mutation_p.K83M|LUZP1_uc001bgl.2_Missense_Mutation_p.K83M|LUZP1_uc001bgm.1_Missense_Mutation_p.K83M	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	83	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)														---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23758207	23758207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23758207T>C	uc001bha.2	-	23	2652	c.2528A>G	c.(2527-2529)TAC>TGC	p.Y843C	ASAP3_uc001bgy.1_Missense_Mutation_p.Y347C|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Y733C|ASAP3_uc010oea.1_Missense_Mutation_p.Y834C|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	843					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
E2F2	1870	broad.mit.edu	37	1	23842920	23842920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23842920G>A	uc001bhe.1	-	6	1380	c.952C>T	c.(952-954)CTC>TTC	p.L318F		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	318					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078489	24078489	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24078489C>T	uc001bho.2	+	4	1532	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	491					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)												OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24080852	24080852	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24080852G>T	uc001bho.2	+	7	1832	c.1772_splice	c.e7-1	p.S591_splice		NM_003198	NP_003189			elongin A						positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)														---	---	---	---
C1orf128	57095	broad.mit.edu	37	1	24113772	24113772	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24113772G>A	uc001bhq.2	+	6	672	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	C1orf128_uc010oeb.1_Missense_Mutation_p.R88Q	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	181	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24419453	24419453	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24419453G>T	uc001bin.3	-	10	1237	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	MYOM3_uc001bim.3_Silent_p.T15T|MYOM3_uc001bio.2_Silent_p.T358T|MYOM3_uc001bip.1_Silent_p.T15T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	358	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24432516	24432516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24432516G>A	uc001bin.3	-	5	617	c.454C>T	c.(454-456)CGC>TGC	p.R152C	MYOM3_uc001bio.2_Missense_Mutation_p.R152C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	152										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24673056	24673056	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24673056C>T	uc001biy.2	+	13	1529	c.1483C>T	c.(1483-1485)CGT>TGT	p.R495C	GRHL3_uc001bix.2_Missense_Mutation_p.R490C|GRHL3_uc001biz.2_Missense_Mutation_p.R397C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	490					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	26104818	26104818	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26104818A>G	uc001bkm.2	+						MAN1C1_uc009vry.1_Intron|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112			mannosidase, alpha, class 1C, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)														---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26135604	26135604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26135604A>G	uc010oer.1	+	8	890	c.835A>G	c.(835-837)ACT>GCT	p.T279A	SEPN1_uc010oes.1_Missense_Mutation_p.T245A	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	279						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PAQR7	164091	broad.mit.edu	37	1	26189996	26189996	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26189996A>C	uc001bkx.2	-	2	1002	c.335T>G	c.(334-336)CTT>CGT	p.L112R		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	112	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524554	26524554	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26524554C>A	uc010oez.1	+	5	664	c.664C>A	c.(664-666)CTC>ATC	p.L222I	CATSPER4_uc010oey.1_Missense_Mutation_p.L44I|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	222	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26663751	26663751	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26663751A>T	uc001bmd.3	-	9	1059	c.629T>A	c.(628-630)ATC>AAC	p.I210N	AIM1L_uc001bmf.3_Missense_Mutation_p.I101N	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	210	Beta/gamma crystallin 'Greek key' 4.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26672211	26672211	+	5'Flank	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26672211G>A	uc001bmd.3	-						uc009vsi.1_Missense_Mutation_p.P313L	NM_001039775	NP_001034864			absent in melanoma 1-like								sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
ZNF683	257101	broad.mit.edu	37	1	26691013	26691013	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26691013A>C	uc001bmg.1	-						ZNF683_uc001bmh.1_Intron|ZNF683_uc009vsj.1_Intron	NM_173574	NP_775845			zinc finger protein 683						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)														---	---	---	---
DHDDS	79947	broad.mit.edu	37	1	26759503	26759503	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26759503A>G	uc001bml.2	+						DHDDS_uc001bmk.2_Intron|DHDDS_uc001bmm.2_Intron|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Intron	NM_205861	NP_995583			dehydrodolichyl diphosphate synthase isoform b								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26878189	26878189	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26878189A>T	uc001bmr.1	+	6	606	c.443A>T	c.(442-444)GAC>GTC	p.D148V	RPS6KA1_uc010ofe.1_Missense_Mutation_p.D56V|RPS6KA1_uc010off.1_Missense_Mutation_p.D132V|RPS6KA1_uc001bms.1_Missense_Mutation_p.D157V|RPS6KA1_uc009vsl.1_5'UTR|MIR1976_hsa-mir-1976|MI0009986_5'Flank	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26887635	26887635	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26887635G>A	uc001bmr.1	+						RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Intron|RPS6KA1_uc001bms.1_Intron|RPS6KA1_uc009vsl.1_Intron	NM_002953	NP_002944			ribosomal protein S6 kinase, 90kDa, polypeptide						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058102	27058102	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27058102T>C	uc001bmv.1	+						ARID1A_uc001bmt.1_Intron|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Intron	NM_006015	NP_006006			AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105591	27105591	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105591T>C	uc001bmv.1	+	20	5575	c.5202T>C	c.(5200-5202)TAT>TAC	p.Y1734Y	ARID1A_uc001bmu.1_Silent_p.Y1517Y|ARID1A_uc001bmx.1_Silent_p.Y580Y|ARID1A_uc009vsm.1_Silent_p.Y62Y|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1734*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ZDHHC18	84243	broad.mit.edu	37	1	27176863	27176863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27176863T>C	uc001bnb.2	+	4	813	c.718T>C	c.(718-720)TTT>CTT	p.F240L	ZDHHC18_uc010ofh.1_Missense_Mutation_p.F105L	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	240	Helical; (Potential).|DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)														---	---	---	---
GPATCH3	63906	broad.mit.edu	37	1	27218931	27218931	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27218931G>T	uc001bne.2	-	6	1361	c.1332C>A	c.(1330-1332)GGC>GGA	p.G444G	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Silent_p.G255G	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	444	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27436202	27436202	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)													---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27688704	27688704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27688704G>T	uc001bny.1	-	9	1542	c.1293C>A	c.(1291-1293)TGC>TGA	p.C431*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.C423*|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	431					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
C1orf38	9473	broad.mit.edu	37	1	28209562	28209562	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28209562T>C	uc001bpc.3	+						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Intron	NM_001105556	NP_001099026			basement membrane-induced gene isoform 3						cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
DNAJC8	22826	broad.mit.edu	37	1	28530265	28530265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28530265T>G	uc001bpn.2	-	8	665	c.632A>C	c.(631-633)AAC>ACC	p.N211T	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	211					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28607245	28607245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28607245C>T	uc001bps.2	+	10	1728	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	459					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28802790	28802790	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28802790T>C	uc001bpw.2	+	8	1875	c.1593T>C	c.(1591-1593)GAT>GAC	p.D531D	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.D515D|PHACTR4_uc001bpy.2_Silent_p.D541D	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	531							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819589	28819589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819589C>T	uc001bpw.2	+	13	2361	c.2079C>T	c.(2077-2079)AGC>AGT	p.S693S	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.S677S|PHACTR4_uc001bpy.2_Silent_p.S703S|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	693							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819605	28819605	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819605T>G	uc001bpw.2	+	13	2375	c.2093_splice	c.e13+2	p.R698_splice	PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.R682_splice|PHACTR4_uc001bpy.2_Splice_Site_p.R708_splice|PHACTR4_uc001bpz.2_Splice_Site	NM_001048183	NP_001041648			phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28897682	28897682	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28897682T>G	uc001bqi.2	+						TRNAU1AP_uc001bqh.2_Intron|TRNAU1AP_uc010ofw.1_Intron	NM_017846	NP_060316			tRNA selenocysteine associated protein 1						selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
OPRD1	4985	broad.mit.edu	37	1	29189408	29189408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29189408C>T	uc001brf.1	+	3	974	c.732C>T	c.(730-732)CGC>CGT	p.R244R		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	244	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)													---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29314014	29314014	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29314014G>A	uc001brm.1	+	1	72	c.65G>A	c.(64-66)GGT>GAT	p.G22D	EPB41_uc001brg.1_Translation_Start_Site|EPB41_uc001brh.1_Translation_Start_Site|EPB41_uc001bri.1_Missense_Mutation_p.G22D|EPB41_uc001brj.1_Translation_Start_Site|EPB41_uc009vtk.1_Missense_Mutation_p.G22D|EPB41_uc001brk.2_Missense_Mutation_p.G22D|EPB41_uc001brl.1_Missense_Mutation_p.G22D|EPB41_uc009vtl.1_Translation_Start_Site|EPB41_uc009vtm.1_Translation_Start_Site	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	22					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)														---	---	---	---
SFRS4	6429	broad.mit.edu	37	1	29475243	29475243	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29475243C>T	uc001bro.2	-	6	1537	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	388	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29522739	29522739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29522739T>C	uc001brq.1	-	8	898	c.862A>G	c.(862-864)ATG>GTG	p.M288V	MECR_uc001brp.1_Missense_Mutation_p.M212V|MECR_uc001brr.1_Missense_Mutation_p.M212V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	288					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29542532	29542532	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29542532C>A	uc001brq.1	-	3	427	c.391G>T	c.(391-393)GCA>TCA	p.A131S	MECR_uc001brp.1_Missense_Mutation_p.A55S|MECR_uc001brr.1_Missense_Mutation_p.A55S|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.A55S|MECR_uc010ofz.1_Missense_Mutation_p.A131S	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	131					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29611288	29611288	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29611288C>A	uc001bru.2	+	14	2335	c.2225C>A	c.(2224-2226)TCG>TAG	p.S742*	PTPRU_uc001brv.2_Nonsense_Mutation_p.S742*|PTPRU_uc001brw.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtq.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtr.2_Nonsense_Mutation_p.S742*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	742	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29618439	29618439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29618439A>T	uc001bru.2	+	16	2517	c.2407A>T	c.(2407-2409)ATG>TTG	p.M803L	PTPRU_uc001brv.2_Missense_Mutation_p.M793L|PTPRU_uc001brw.2_Missense_Mutation_p.M793L|PTPRU_uc009vtq.2_Missense_Mutation_p.M793L|PTPRU_uc009vtr.2_Missense_Mutation_p.M793L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	803	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31479866	31479866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31479866C>T	uc001bsi.1	-	4	629	c.516G>A	c.(514-516)TGG>TGA	p.W172*	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Nonsense_Mutation_p.W172*|PUM1_uc001bsj.1_Nonsense_Mutation_p.W172*|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Nonsense_Mutation_p.W208*|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	172					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
BAI2	576	broad.mit.edu	37	1	32222059	32222059	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32222059G>A	uc001btn.2	-	4	733	c.379C>T	c.(379-381)CGG>TGG	p.R127W	BAI2_uc010ogp.1_Missense_Mutation_p.R115W|BAI2_uc010ogq.1_Missense_Mutation_p.R127W|BAI2_uc001bto.2_Missense_Mutation_p.R127W|BAI2_uc001btq.1_Missense_Mutation_p.R115W|BAI2_uc010ogr.1_Missense_Mutation_p.R115W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	127	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)														---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503449	32503449	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32503449G>T	uc001bub.2	+	6	1025	c.919G>T	c.(919-921)GGA>TGA	p.G307*	KHDRBS1_uc001bua.1_Nonsense_Mutation_p.G268*|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	307	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32635510	32635510	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32635510A>G	uc001bug.2	+	13	1360	c.1272A>G	c.(1270-1272)AAA>AAG	p.K424K	KPNA6_uc001buh.2_Silent_p.K199K|KPNA6_uc010ogx.1_Silent_p.K421K|KPNA6_uc010ogy.1_Silent_p.K429K|KPNA6_uc009vtz.2_Silent_p.K319K	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	424	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
EIF3I	8668	broad.mit.edu	37	1	32696575	32696575	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32696575A>G	uc001bur.3	+	11	1384	c.851A>G	c.(850-852)CAC>CGC	p.H284R	EIF3I_uc009vuc.2_Missense_Mutation_p.H284R|EIF3I_uc001bus.2_Missense_Mutation_p.H236R	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	284	WD 5.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)																---	---	---	---
TSSK3	81629	broad.mit.edu	37	1	32829415	32829415	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32829415T>C	uc001bvf.2	+	2	806	c.365T>C	c.(364-366)ATC>ACC	p.I122T	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	122	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)																---	---	---	---
RBBP4	5928	broad.mit.edu	37	1	33134616	33134616	+	Missense_Mutation	SNP	A	G	G	rs77147900		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33134616A>G	uc001bvr.2	+	6	803	c.644A>G	c.(643-645)AAA>AGA	p.K215R	RBBP4_uc001bvs.2_Missense_Mutation_p.K214R|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.K180R	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	215					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)																---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33237888	33237888	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33237888C>A	uc001bvv.2	+	6	3067	c.2931C>A	c.(2929-2931)CCC>CCA	p.P977P	KIAA1522_uc001bvu.1_Silent_p.P1036P|KIAA1522_uc010ohm.1_Silent_p.P988P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	977	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34015866	34015866	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34015866C>T	uc001bxn.1	-	55	8425	c.8396G>A	c.(8395-8397)AGC>AAC	p.S2799N	CSMD2_uc001bxm.1_Missense_Mutation_p.S2943N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2799	Sushi 19.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035106	34035106	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34035106G>A	uc001bxn.1	-	53	8034	c.8005C>T	c.(8005-8007)CGC>TGC	p.R2669C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2667C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2669	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34071528	34071528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34071528T>C	uc001bxn.1	-	42	6313	c.6284A>G	c.(6283-6285)GAA>GGA	p.E2095G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2095	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34667751	34667751	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34667751A>G	uc001bxs.3	+	4	1166	c.767A>G	c.(766-768)CAC>CGC	p.H256R	C1orf94_uc001bxt.2_Missense_Mutation_p.H446R	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	256							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GJB3	2707	broad.mit.edu	37	1	35250919	35250919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35250919A>G	uc001bxx.2	+	2	1171	c.556A>G	c.(556-558)ATC>GTC	p.I186V	GJB3_uc001bxy.2_Missense_Mutation_p.I186V|GJB3_uc001bxz.3_Missense_Mutation_p.I186V|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	186	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35332721	35332721	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35332721G>A	uc001byc.2	-	9	2649	c.2649C>T	c.(2647-2649)ATC>ATT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)														OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370394	35370394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35370394C>T	uc001byc.2	-	1	591	c.591G>A	c.(589-591)GGG>GGA	p.G197G		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	197					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35851205	35851205	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35851205T>C	uc001byt.2	+						ZMYM4_uc009vuu.2_Intron|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Intron	NM_005095	NP_005086			zinc finger protein 262						multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36203686	36203686	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36203686T>C	uc001bzi.2	-	22	3651	c.3571A>G	c.(3571-3573)AAA>GAA	p.K1191E	CLSPN_uc009vux.2_Missense_Mutation_p.K1127E	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1191					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36563431	36563431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36563431G>A	uc001bzv.1	-	2	1858	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	COL8A2_uc001bzw.1_Silent_p.G552G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	617	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36645561	36645561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36645561G>A	uc001bzz.2	+	16	2624	c.2408G>A	c.(2407-2409)GGA>GAA	p.G803E	MAP7D1_uc001caa.2_Missense_Mutation_p.G770E|MAP7D1_uc001cab.2_Missense_Mutation_p.G765E|MAP7D1_uc001cac.2_Missense_Mutation_p.G502E|MAP7D1_uc001cad.2_Missense_Mutation_p.G339E	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	803						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)																---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755361	36755361	+	Missense_Mutation	SNP	G	A	A	rs143670803	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36755361G>A	uc001cae.3	+	5	1965	c.1741G>A	c.(1741-1743)GCA>ACA	p.A581T	THRAP3_uc001caf.3_Missense_Mutation_p.A581T|THRAP3_uc001cag.1_Missense_Mutation_p.A581T	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	581					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36757116	36757116	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36757116A>G	uc001cae.3	+	6	2111	c.1887A>G	c.(1885-1887)CAA>CAG	p.Q629Q	THRAP3_uc001caf.3_Silent_p.Q629Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	629					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36769439	36769439	+	Missense_Mutation	SNP	C	T	T	rs141044799		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36769439C>T	uc001cae.3	+	12	2913	c.2689C>T	c.(2689-2691)CGG>TGG	p.R897W	THRAP3_uc001caf.3_Missense_Mutation_p.R897W|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	897					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
C1orf113	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36785374C>T	uc010oia.1	+	14	1138	c.1110C>T	c.(1108-1110)AAC>AAT	p.N370N	C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	254											0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
MEAF6	64769	broad.mit.edu	37	1	37975066	37975066	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37975066G>A	uc001cbg.1	-	3	301	c.284C>T	c.(283-285)ACC>ATC	p.T95I	MEAF6_uc001cbd.1_Missense_Mutation_p.T73I|MEAF6_uc001cbe.1_Missense_Mutation_p.T95I|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.T95I	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	95					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0																		---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006093	38006093	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006093A>G	uc001cbi.2	-	3	664	c.591T>C	c.(589-591)GGT>GGC	p.G197G	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	197					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006337	38006337	+	Missense_Mutation	SNP	C	A	A	rs80144754	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006337C>A	uc001cbi.2	-	3	420	c.347G>T	c.(346-348)CGG>CTG	p.R116L	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	116	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
DNALI1	7802	broad.mit.edu	37	1	38023220	38023220	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38023220T>C	uc001cbj.2	+	2	174	c.164T>C	c.(163-165)GTC>GCC	p.V55A	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	33					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38048476	38048476	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38048476C>T	uc001cbk.2	-	7	861	c.698G>A	c.(697-699)CGT>CAT	p.R233H	GNL2_uc010oif.1_Missense_Mutation_p.R74H	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	233					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38053053	38053053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38053053G>A	uc001cbk.2	-	5	591	c.428C>T	c.(427-429)ACA>ATA	p.T143I	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Intron	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	143					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38188974	38188974	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38188974C>T	uc009vvi.2	-						EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_Intron	NM_001099439	NP_001092909			EPH receptor A10 isofom 3							extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265387	38265387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38265387C>T	uc001cby.2	+	4	967	c.886C>T	c.(886-888)CCC>TCC	p.P296S	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.P74S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	296	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
FHL3	2275	broad.mit.edu	37	1	38463130	38463130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38463130C>T	uc001ccj.2	-	6	877	c.790G>A	c.(790-792)GTA>ATA	p.V264I	FHL3_uc001cck.2_Missense_Mutation_p.V264I|FHL3_uc001ccl.2_Silent_p.S262S|FHL3_uc001ccm.2_Missense_Mutation_p.V156I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	264	LIM zinc-binding 4.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341489	39341489	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39341489G>A	uc001cct.1	-	2	563	c.282C>T	c.(280-282)GGC>GGT	p.G94G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	94	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39750744	39750744	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39750744A>T	uc010ois.1	+						MACF1_uc001cda.1_Intron	NM_012090	NP_036222			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39765892	39765892	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39765892A>T	uc010ois.1	+	23	2712	c.2507A>T	c.(2506-2508)GAG>GTG	p.E836V	MACF1_uc001cda.1_Missense_Mutation_p.E744V|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	836					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39796951	39796951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39796951G>A	uc010oiu.1	+	1	142	c.11G>A	c.(10-12)GGC>GAC	p.G4D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1569					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798124	39798124	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39798124C>G	uc010oiu.1	+	1	1315	c.1184C>G	c.(1183-1185)GCC>GGC	p.A395G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1960					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39844182	39844182	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39844182C>T	uc010oiu.1	+	17	8714	c.8583C>T	c.(8581-8583)TAC>TAT	p.Y2861Y	MACF1_uc010ois.1_Silent_p.Y2359Y|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4426					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39854290	39854290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39854290C>T	uc010oiu.1	+	22	11227	c.11096C>T	c.(11095-11097)ACC>ATC	p.T3699I	MACF1_uc010ois.1_Missense_Mutation_p.T3197I|MACF1_uc001cda.1_Missense_Mutation_p.T3084I|MACF1_uc001cdc.1_Missense_Mutation_p.T2263I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5264	Spectrin 6.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39950269	39950269	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39950269T>A	uc010oiu.1	+						MACF1_uc010ois.1_Intron|MACF1_uc001cde.1_Intron|MACF1_uc001cdf.1_Intron|MACF1_uc001cdg.2_Intron|MACF1_uc001cdh.2_Intron	NM_033044	NP_149033			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
BMP8B	656	broad.mit.edu	37	1	40226088	40226088	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40226088G>A	uc001cdz.1	-	7					PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	NM_001720	NP_001711			bone morphogenetic protein 8B preproprotein						cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---
MYCL1	4610	broad.mit.edu	37	1	40363565	40363565	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40363565G>A	uc001cer.1	-	3	791	c.574C>T	c.(574-576)CGA>TGA	p.R192*	MYCL1_uc001ces.1_Nonsense_Mutation_p.R192*	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)					A		small cell lung 								---	---	---	---
CAP1	10487	broad.mit.edu	37	1	40535427	40535427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40535427C>A	uc001cfa.3	+	9	1103	c.874C>A	c.(874-876)CCA>ACA	p.P292T	CAP1_uc001cey.3_Missense_Mutation_p.P292T|CAP1_uc001cez.3_Missense_Mutation_p.P292T|CAP1_uc009vvz.2_Missense_Mutation_p.P292T|CAP1_uc010oje.1_Missense_Mutation_p.P209T	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	292					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
RLF	6018	broad.mit.edu	37	1	40703531	40703531	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40703531A>C	uc001cfc.3	+	8	3188	c.3157A>C	c.(3157-3159)AGG>CGG	p.R1053R	RLF_uc001cfd.3_Silent_p.R744R	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)															---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40747087	40747087	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40747087A>T	uc001cfg.2	+	7	1053	c.842A>T	c.(841-843)GAC>GTC	p.D281V		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	281						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40879909	40879909	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40879909C>A	uc001cfj.2	+	6	633	c.568C>A	c.(568-570)CTT>ATT	p.L190I	SMAP2_uc010ojh.1_Missense_Mutation_p.L190I|SMAP2_uc001cfk.2_Missense_Mutation_p.L160I|SMAP2_uc010oji.1_Missense_Mutation_p.L107I|SMAP2_uc010ojj.1_Missense_Mutation_p.L6I	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	190	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40881883	40881883	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40881883C>T	uc001cfj.2	+	8	782	c.717C>T	c.(715-717)GGC>GGT	p.G239G	SMAP2_uc010ojh.1_Silent_p.G239G|SMAP2_uc001cfk.2_Silent_p.G209G|SMAP2_uc010oji.1_Silent_p.G156G|SMAP2_uc010ojj.1_Silent_p.G55G	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	239					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40981037	40981037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981037T>C	uc001cfp.2	+	3	1026	c.821T>C	c.(820-822)CTT>CCT	p.L274P	DEM1_uc001cfq.2_Missense_Mutation_p.L274P|DEM1_uc001cfr.2_Missense_Mutation_p.L274P|DEM1_uc001cfs.2_Missense_Mutation_p.L274P	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	274							DNA binding|exonuclease activity				0																		---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41250028	41250028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41250028A>G	uc001cgh.1	+	1	345	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	KCNQ4_uc001cgi.1_Missense_Mutation_p.Y88C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	88	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)															---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41990484	41990484	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41990484G>A	uc001cgz.3	-	6	6518	c.5305C>T	c.(5305-5307)CTG>TTG	p.L1769L	HIVEP3_uc001cha.3_Silent_p.L1769L|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1769	C2H2-type 4.|ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046233	42046233	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046233T>C	uc001cgz.3	-	4	5449	c.4236A>G	c.(4234-4236)TCA>TCG	p.S1412S	HIVEP3_uc001cha.3_Silent_p.S1412S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046988	42046988	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046988C>A	uc001cgz.3	-	4	4694	c.3481G>T	c.(3481-3483)GAA>TAA	p.E1161*	HIVEP3_uc001cha.3_Nonsense_Mutation_p.E1161*|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048796	42048796	+	Missense_Mutation	SNP	C	T	T	rs143274774		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048796C>T	uc001cgz.3	-	4	2886	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R558Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	558	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
FOXJ3	22887	broad.mit.edu	37	1	42664883	42664883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42664883C>T	uc001che.2	-	9	961	c.649G>A	c.(649-651)GAT>AAT	p.D217N	FOXJ3_uc001chf.2_Missense_Mutation_p.D217N|FOXJ3_uc001chg.2_Missense_Mutation_p.D217N|FOXJ3_uc001chh.1_Missense_Mutation_p.D183N	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	217					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
YBX1	4904	broad.mit.edu	37	1	43149140	43149140	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43149140G>T	uc001chs.2	+							NM_004559	NP_004550			nuclease sensitive element binding protein 1						CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43212614	43212614	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43212614T>C	uc001chv.2	-						LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chx.3_Missense_Mutation_p.N795S	NM_022356	NP_071751			leprecan 1 isoform 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43213016	43213016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43213016A>G	uc001chv.2	-	14	2095	c.1982T>C	c.(1981-1983)GTG>GCG	p.V661A	LEPRE1_uc001chw.2_Missense_Mutation_p.V661A|LEPRE1_uc001chx.3_Missense_Mutation_p.V661A	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	661	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43396858	43396858	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43396858T>C	uc001cik.2	-	3	659	c.134A>G	c.(133-135)AAC>AGC	p.N45S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	45	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMEM125	128218	broad.mit.edu	37	1	43738912	43738912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43738912C>T	uc001cir.2	+	4	1089	c.519C>T	c.(517-519)AGC>AGT	p.S173S	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.S173S	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	173						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43777979	43777979	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43777979C>A	uc001ciu.2	+	12	1713	c.1634C>A	c.(1633-1635)CCT>CAT	p.P545H	TIE1_uc010okd.1_Missense_Mutation_p.P545H|TIE1_uc010oke.1_Missense_Mutation_p.P500H|TIE1_uc009vwq.2_Missense_Mutation_p.P501H|TIE1_uc010okf.1_Missense_Mutation_p.P190H|TIE1_uc010okg.1_Missense_Mutation_p.P190H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	545	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43903371	43903371	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43903371G>A	uc001cjk.1	+	30	4161	c.3699G>A	c.(3697-3699)TCG>TCA	p.S1233S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2132						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43908489	43908489	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43908489G>T	uc001cjk.1	+	44	5917	c.5455_splice	c.e44-1	p.E1819_splice		NM_015284	NP_056099			hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056821	44056821	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056821T>C	uc001cjr.2	+	9	1468	c.1128T>C	c.(1126-1128)ATT>ATC	p.I376I	PTPRF_uc001cjs.2_Silent_p.I376I|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	376	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056913G>A	uc001cjr.2	+	9	1560	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	PTPRF_uc001cjs.2_Missense_Mutation_p.R407H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44063488	44063488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44063488T>C	uc001cjr.2	+	12	2223	c.1883T>C	c.(1882-1884)GTC>GCC	p.V628A	PTPRF_uc001cjs.2_Missense_Mutation_p.V628A|PTPRF_uc001cju.2_Missense_Mutation_p.V199A|PTPRF_uc009vwt.2_Missense_Mutation_p.V199A|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	628	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44075099	44075099	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44075099A>T	uc001cjr.2	+	22	4243	c.3903A>T	c.(3901-3903)GGA>GGT	p.G1301G	PTPRF_uc001cjs.2_Silent_p.G1292G|PTPRF_uc001cju.2_Silent_p.G679G|PTPRF_uc009vwt.2_Silent_p.G861G|PTPRF_uc001cjv.2_Silent_p.G761G|PTPRF_uc001cjw.2_Silent_p.G527G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1301	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
ATP6V0B	533	broad.mit.edu	37	1	44442793	44442793	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44442793G>A	uc001cld.2	+	7	607	c.496G>A	c.(496-498)GAT>AAT	p.D166N	ATP6V0B_uc001clc.2_Missense_Mutation_p.D166N|ATP6V0B_uc001cle.2_Missense_Mutation_p.D119N|ATP6V0B_uc001clf.2_Missense_Mutation_p.D119N|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	166	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44458260	44458260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44458260G>T	uc001clj.2	+	4	539	c.368G>T	c.(367-369)AGG>ATG	p.R123M	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.R79M|CCDC24_uc009vxc.2_Missense_Mutation_p.R87M	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	123											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44461664	44461664	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44461664C>T	uc001clj.2	+	9	927	c.756C>T	c.(754-756)TGC>TGT	p.C252C	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.A206V|CCDC24_uc009vxc.2_Silent_p.C216C	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	252											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292148	45292148	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45292148G>A	uc010olf.1	-						PTCH2_uc010olg.1_Intron	NM_003738	NP_003729			patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45474846	45474846	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45474846T>A	uc009vxk.2	-	7	1140	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.I64F|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	348	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
UROD	7389	broad.mit.edu	37	1	45479751	45479751	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45479751T>C	uc001cna.1	+						HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc001cnb.1_Intron|UROD_uc010olj.1_Silent_p.P159P|UROD_uc001cnc.1_Intron	NM_000374	NP_000365			uroporphyrinogen decarboxylase							cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)													Porphyria_Cutanea_Tarda_Type_II				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45797085	45797085	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45797085C>T	uc001cnm.2	-						MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Intron|MUTYH_uc009vxo.2_Intron|MUTYH_uc001cng.2_Intron|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Intron|MUTYH_uc001cnh.2_Intron|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Intron|MUTYH_uc009vxp.2_Intron|MUTYH_uc001cnn.2_Intron	NM_012222	NP_036354			mutY homolog isoform 1						depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45799172	45799172	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45799172G>A	uc001cnm.2	-	3	468	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Silent_p.F59F|MUTYH_uc009vxo.2_Silent_p.F59F|MUTYH_uc001cng.2_Silent_p.F70F|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Silent_p.F59F|MUTYH_uc001cnh.2_Silent_p.F60F|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.F73F|MUTYH_uc009vxp.2_Silent_p.F87F|MUTYH_uc001cnn.2_Silent_p.F74F	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	84					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
TOE1	114034	broad.mit.edu	37	1	45808899	45808899	+	Missense_Mutation	SNP	C	A	A	rs145913038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45808899C>A	uc009vxq.2	+	8	1641	c.1058C>A	c.(1057-1059)CCG>CAG	p.P353Q	MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	353						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46496749	46496749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46496749C>T	uc001cov.2	+	23	3062	c.2779C>T	c.(2779-2781)CGA>TGA	p.R927*	MAST2_uc001cow.2_Nonsense_Mutation_p.R927*|MAST2_uc001coy.1_Nonsense_Mutation_p.R601*|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	927					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46497992	46497992	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46497992T>G	uc001cov.2	+	25	3613	c.3330T>G	c.(3328-3330)GCT>GCG	p.A1110A	MAST2_uc001cow.2_Silent_p.A1110A|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1110	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46658844	46658844	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46658844A>G	uc001cpe.2	-	13	1316	c.1152_splice	c.e13+1	p.P384_splice	POMGNT1_uc010olx.1_Splice_Site_p.P362_splice|POMGNT1_uc010oly.1_Splice_Site|POMGNT1_uc010olz.1_Splice_Site_p.P241_splice|POMGNT1_uc001cpg.2_Splice_Site_p.P384_splice|POMGNT1_uc001cpf.2_Splice_Site_p.P51_splice|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_Splice_Site_p.P51_splice	NM_017739	NP_060209			O-linked mannose						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46726527	46726527	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46726527C>T	uc009vye.2	+	8	720	c.606C>T	c.(604-606)CGC>CGT	p.R202R	RAD54L_uc001cpl.2_Silent_p.R202R|RAD54L_uc001cpm.1_Silent_p.R22R	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	202	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46739122	46739122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46739122G>A	uc009vye.2	+	14	1585	c.1471G>A	c.(1471-1473)GAG>AAG	p.E491K	RAD54L_uc001cpl.2_Missense_Mutation_p.E491K|RAD54L_uc001cpm.1_Intron	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	491					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46876500	46876500	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46876500A>G	uc001cpu.2	+	11	1372	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	430					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)													---	---	---	---
ATPAF1	64756	broad.mit.edu	37	1	47101525	47101525	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47101525T>A	uc001cqh.2	-	9	1015	c.910A>T	c.(910-912)ATG>TTG	p.M304L	ATPAF1_uc001cqg.2_Missense_Mutation_p.M85L|ATPAF1_uc009vyk.2_Missense_Mutation_p.M153L|ATPAF1_uc010omg.1_Missense_Mutation_p.M216L|ATPAF1_uc001cqi.2_Missense_Mutation_p.M236L	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly	304					protein complex assembly	mitochondrion	protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
KIAA0494	9813	broad.mit.edu	37	1	47183713	47183713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47183713T>C	uc001cqk.3	-	1	1024	c.47A>G	c.(46-48)GAC>GGC	p.D16G	KIAA0494_uc010omh.1_Missense_Mutation_p.D16G|KIAA0494_uc001cql.1_Missense_Mutation_p.D16G	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	16							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47515714	47515714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47515714A>G	uc001cqt.2	+	12	1648	c.1398A>G	c.(1396-1398)GTA>GTG	p.V466V	CYP4X1_uc001cqr.2_Silent_p.V465V|CYP4X1_uc001cqs.2_Silent_p.V401V	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---
CYP4Z1	199974	broad.mit.edu	37	1	47564911	47564911	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47564911G>A	uc001cqu.1	+	8	1025	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	341	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1																		---	---	---	---
STIL	6491	broad.mit.edu	37	1	47716886	47716886	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47716886T>C	uc001crc.1	-	17	3941	c.3786A>G	c.(3784-3786)CTA>CTG	p.L1262L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1216L|STIL_uc010omo.1_Silent_p.L1245L|STIL_uc001crd.1_Silent_p.L1263L|STIL_uc001cre.1_Silent_p.L1262L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1262					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717182	47717182	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717182G>T	uc001crc.1	-	17	3645	c.3490C>A	c.(3490-3492)CTT>ATT	p.L1164I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1118I|STIL_uc010omo.1_Missense_Mutation_p.L1147I|STIL_uc001crd.1_Missense_Mutation_p.L1165I|STIL_uc001cre.1_Missense_Mutation_p.L1164I	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1164					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47728569	47728569	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47728569T>C	uc001crc.1	-						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Intron|STIL_uc010omo.1_Intron|STIL_uc001crd.1_Intron|STIL_uc001cre.1_Intron|STIL_uc001crf.1_Intron|STIL_uc001crg.1_Intron	NM_003035	NP_003026			SCL/TAL1 interrupting locus isoform 2						cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
CMPK1	51727	broad.mit.edu	37	1	47840875	47840875	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47840875G>A	uc001cri.2	+	5	704	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	CMPK1_uc010omp.1_Silent_p.Q136Q|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	153					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)													---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48690420	48690420	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48690420A>T	uc001cro.2	+	2	239	c.187A>T	c.(187-189)ACC>TCC	p.T63S	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.T63S|SLC5A9_uc010omt.1_Missense_Mutation_p.T56S|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48703476	48703476	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48703476C>A	uc001cro.2	+	11	1470	c.1418C>A	c.(1417-1419)GCT>GAT	p.A473D	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A498D|SLC5A9_uc010omt.1_Missense_Mutation_p.A487D|SLC5A9_uc001crp.2_Missense_Mutation_p.A140D|SLC5A9_uc010omu.1_Missense_Mutation_p.A140D|SLC5A9_uc009vyt.1_5'Flank	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	473	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
FAF1	11124	broad.mit.edu	37	1	50956304	50956304	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:50956304A>G	uc009vyx.1	-	18	1672	c.1609T>C	c.(1609-1611)TTT>CTT	p.F537L	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.F537L|FAF1_uc010onc.1_Missense_Mutation_p.F295L	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	537					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)														---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52257781	52257781	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52257781A>G	uc001ctc.3	-						NRD1_uc009vzb.2_Intron|NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_Intron|NRD1_uc001ctf.2_Intron	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52343945	52343945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52343945A>G	uc001ctc.3	-						NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Intron|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52729433	52729433	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52729433C>G	uc001cto.2	+						ZFYVE9_uc001ctn.2_Intron|ZFYVE9_uc001ctp.2_Intron	NM_004799	NP_004790			zinc finger, FYVE domain containing 9 isoform 3						endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8																		---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52826088	52826088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52826088C>T	uc001ctq.1	-						CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'Flank	NM_032449	NP_115825			coiled-coil and C2 domain containing 1B											ovary(2)	2																		---	---	---	---
ORC1L	4998	broad.mit.edu	37	1	52838930	52838930	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52838930T>C	uc001ctt.2	-	17	2728	c.2509A>G	c.(2509-2511)AGC>GGC	p.S837G	ORC1L_uc010oni.1_Missense_Mutation_p.S832G|ORC1L_uc001ctu.2_Missense_Mutation_p.S837G|ORC1L_uc009vzd.2_Missense_Mutation_p.S591G	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	837	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---
PRPF38A	84950	broad.mit.edu	37	1	52881054	52881054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52881054G>A	uc001ctv.3	+	9	1095	c.892G>A	c.(892-894)GAA>AAA	p.E298K	PRPF38A_uc001ctw.3_Silent_p.P108P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	298					mRNA processing|RNA splicing	spliceosomal complex					0																		---	---	---	---
GPX7	2882	broad.mit.edu	37	1	53072522	53072522	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53072522G>A	uc001cue.2	+	2	344	c.305G>A	c.(304-306)AGC>AAC	p.S102N		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	102					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)													---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53236726	53236726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53236726G>A	uc001cuj.2	+	3	426	c.231G>A	c.(229-231)AGG>AGA	p.R77R	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.R68R	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	77							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53245640	53245640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53245640A>G	uc001cuj.2	+	4	1262	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.E347G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	356							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53279576	53279576	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53279576A>G	uc001cuj.2	+	12	2133	c.1938A>G	c.(1936-1938)GTA>GTG	p.V646V	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.V567V|ZYG11B_uc009vzh.2_Silent_p.V68V	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	646							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53282239	53282239	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53282239T>C	uc001cuj.2	+	13	2177	c.1982T>C	c.(1981-1983)TTC>TCC	p.F661S	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.F582S|ZYG11B_uc009vzh.2_Missense_Mutation_p.F83S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	661							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SCP2	6342	broad.mit.edu	37	1	53427303	53427303	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53427303T>A	uc001cur.1	+	6	644	c.523_splice	c.e6+2	p.G175_splice	SCP2_uc001cus.1_Splice_Site|SCP2_uc010ono.1_Splice_Site_p.G94_splice|SCP2_uc010onp.1_Splice_Site_p.G151_splice|SCP2_uc009vzi.1_Splice_Site_p.G131_splice|SCP2_uc001cuq.1_Splice_Site_p.G131_splice	NM_002979	NP_002970			sterol carrier protein 2 isoform 1 proprotein						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1																		---	---	---	---
PODN	127435	broad.mit.edu	37	1	53544105	53544105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53544105C>T	uc001cuv.2	+	8	1074	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	PODN_uc001cuw.2_Missense_Mutation_p.P337L|PODN_uc010onr.1_Missense_Mutation_p.P337L|PODN_uc010ons.1_Missense_Mutation_p.P214L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	308	LRR 9.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675839	53675839	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675839A>T	uc001cvb.3	+	4	1008	c.493A>T	c.(493-495)ACA>TCA	p.T165S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	165	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675956	53675956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675956G>A	uc001cvb.3	+	4	1125	c.610G>A	c.(610-612)GCC>ACC	p.A204T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	204					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53715086	53715086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53715086T>C	uc001cvi.1	-	18	2961	c.2819A>G	c.(2818-2820)AAC>AGC	p.N940S	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.N770S|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	940	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---
TMEM48	55706	broad.mit.edu	37	1	54258916	54258916	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54258916A>G	uc001cvs.2	-	14	1862	c.1621T>C	c.(1621-1623)TAT>CAT	p.Y541H	TMEM48_uc010onu.1_Missense_Mutation_p.Y501H|TMEM48_uc001cvt.2_Missense_Mutation_p.Y418H|TMEM48_uc009vzk.2_Intron|TMEM48_uc010onv.1_Missense_Mutation_p.Y206H	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	541	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2																		---	---	---	---
YIPF1	54432	broad.mit.edu	37	1	54331937	54331937	+	Missense_Mutation	SNP	C	T	T	rs139670932		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54387395	54387395	+	Missense_Mutation	SNP	C	T	T	rs140103685	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54387395C>T	uc001cwh.2	-	6	440	c.364G>A	c.(364-366)GCC>ACC	p.A122T	HSPB11_uc001cwi.1_3'UTR	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	122					cell adhesion|response to stress						0																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54395786	54395786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54395786A>G	uc001cwh.2	-	3	207	c.131T>C	c.(130-132)ATG>ACG	p.M44T	HSPB11_uc001cwi.1_Missense_Mutation_p.M44T	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	44					cell adhesion|response to stress						0																		---	---	---	---
SSBP3	23648	broad.mit.edu	37	1	54867612	54867612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54867612A>G	uc001cxe.2	-	4	496	c.198T>C	c.(196-198)TTT>TTC	p.F66F	SSBP3_uc001cxf.2_Silent_p.F66F|SSBP3_uc001cxg.2_Silent_p.F66F	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0																		---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55074766	55074766	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55074766C>A	uc001cxm.1	+						ACOT11_uc001cxj.1_Missense_Mutation_p.P467H|ACOT11_uc001cxl.1_Missense_Mutation_p.P589H	NM_015547	NP_056362			thioesterase, adipose associated isoform BFIT1						fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1																		---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55518094	55518094	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55518094G>T	uc001cyf.1	+						PCSK9_uc010ool.1_Intron|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596			proprotein convertase subtilisin/kexin type 9						cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55627910	55627910	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55627910C>G	uc001cyg.3	-	7	619	c.619G>C	c.(619-621)GGA>CGA	p.G207R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	319					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57158066	57158066	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158066G>A	uc001cyk.3	+	4	437	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	122	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57159508	57159508	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57159508T>C	uc001cyk.3	+	5	617	c.546T>C	c.(544-546)CCT>CCC	p.P182P		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	182	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
C8B	732	broad.mit.edu	37	1	57420406	57420406	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57420406A>T	uc001cyp.2	-	4	553	c.486T>A	c.(484-486)TGT>TGA	p.C162*	C8B_uc010oon.1_Nonsense_Mutation_p.C100*|C8B_uc010ooo.1_Nonsense_Mutation_p.C110*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57535065	57535065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57535065G>A	uc001cys.1	-	10	1305	c.631C>T	c.(631-633)CGT>TGT	p.R211C	DAB1_uc001cyt.1_Missense_Mutation_p.R211C|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.R211C	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	211					cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248625	59248625	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59248625G>T	uc001cze.2	-	1	1161	c.118C>A	c.(118-120)CTG>ATG	p.L40M	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	40					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)			A		sarcoma								---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60299106	60299106	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60299106T>C	uc009wad.2	+	6	405	c.303T>C	c.(301-303)CTT>CTC	p.L101L	HOOK1_uc001czo.2_Silent_p.L101L|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.L59L	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60330855	60330855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60330855A>G	uc009wad.2	+	19	1784	c.1682A>G	c.(1681-1683)CAT>CGT	p.H561R	HOOK1_uc001czo.2_Missense_Mutation_p.H561R|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.H519R	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	561	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62550219	62550219	+	Missense_Mutation	SNP	G	A	A	rs139521421		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62550219G>A	uc001dab.2	+	33	4390	c.4276G>A	c.(4276-4278)GCA>ACA	p.A1426T	INADL_uc009waf.1_Missense_Mutation_p.A1426T|INADL_uc001daa.2_Missense_Mutation_p.A1426T|INADL_uc001dad.3_Missense_Mutation_p.A1123T|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.A210T|INADL_uc009wag.2_Missense_Mutation_p.A210T|INADL_uc010oou.1_Missense_Mutation_p.A99T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1426					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62574144	62574144	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62574144G>A	uc001dab.2	+	34	4527	c.4413G>A	c.(4411-4413)GGG>GGA	p.G1471G	INADL_uc009waf.1_Silent_p.G1501G|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Silent_p.G1168G|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.G285G|INADL_uc009wag.2_Silent_p.G255G|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1471	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62614010	62614010	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62614010A>G	uc001dab.2	+	42	5440	c.5326A>G	c.(5326-5328)ACA>GCA	p.T1776A	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T560A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1776					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675548	62675548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675548C>T	uc001dae.3	+	4	1404	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	368										ovary(1)|skin(1)	2																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675858	62675858	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675858A>T	uc001dae.3	+	4	1714	c.1412A>T	c.(1411-1413)GAC>GTC	p.D471V		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	471	Glu-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62738936	62738936	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62738936A>G	uc001dah.3	-	3	2217	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	614										ovary(3)|skin(2)|lung(1)	6																		---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63090947	63090947	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63090947T>A	uc001daq.2	-	12	1442	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	DOCK7_uc001dan.2_Missense_Mutation_p.T362S|DOCK7_uc001dao.2_Missense_Mutation_p.T362S|DOCK7_uc001dap.2_Missense_Mutation_p.T470S|DOCK7_uc009wah.1_Missense_Mutation_p.T470S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	470					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
ITGB3BP	23421	broad.mit.edu	37	1	63919586	63919586	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63919586T>C	uc001dba.1	-						ITGB3BP_uc001dbb.1_Intron|ITGB3BP_uc001dbc.1_Intron|ITGB3BP_uc001dbd.1_Intron|ITGB3BP_uc009wak.1_Missense_Mutation_p.K185E|ITGB3BP_uc001dbe.1_Intron	NM_014288	NP_055103			integrin beta 3 binding protein						apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0																		---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64644121	64644121	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64644121G>T	uc001dbj.2	+	9	2796	c.2397G>T	c.(2395-2397)CAG>CAT	p.Q799H	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	799	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19																		---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65120394	65120394	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65120394G>A	uc001dbo.1	+	12	1642	c.1537G>A	c.(1537-1539)GCA>ACA	p.A513T	CACHD1_uc001dbp.1_Missense_Mutation_p.A268T|CACHD1_uc001dbq.1_Missense_Mutation_p.A268T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	564	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65332662	65332662	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65332662T>A	uc001dbu.1	-	7	1126	c.877A>T	c.(877-879)ATT>TTT	p.I293F	JAK1_uc009wam.1_Missense_Mutation_p.I281F	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	293	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65851520	65851520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65851520G>A	uc001dcd.1	+	7	919	c.755G>A	c.(754-756)CGC>CAC	p.R252H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H|DNAJC6_uc001dce.1_Missense_Mutation_p.R309H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65871610	65871610	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65871610C>T	uc001dcd.1	+	16	2278	c.2114C>T	c.(2113-2115)CCG>CTG	p.P705L	DNAJC6_uc010opc.1_Missense_Mutation_p.P692L|DNAJC6_uc001dce.1_Missense_Mutation_p.P762L	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65878634	65878634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65878634G>A	uc001dcd.1	+	19	2832	c.2668G>A	c.(2668-2670)GCA>ACA	p.A890T	DNAJC6_uc010opc.1_Missense_Mutation_p.A877T|DNAJC6_uc001dce.1_Missense_Mutation_p.A947T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	890	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102560	66102560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66102560C>A	uc001dci.2	+	20	3562	c.3360C>A	c.(3358-3360)TGC>TGA	p.C1120*	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1120	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67356835	67356835	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67356835A>G	uc001dcx.2	-	4	699	c.643_splice	c.e4+1	p.D215_splice	WDR78_uc001dcy.2_Splice_Site_p.D215_splice|WDR78_uc001dcz.2_Splice_Site_p.D215_splice|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039			WD repeat domain 78 isoform 1											ovary(2)	2																		---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67512970	67512970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67512970A>G	uc001ddk.2	-	7	998	c.614T>C	c.(613-615)GTA>GCA	p.V205A	SLC35D1_uc010oph.1_Missense_Mutation_p.V126A	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	205	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)													---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67721560	67721560	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67721560T>C	uc001ddo.2	+	10	1274	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	IL23R_uc009waz.2_Missense_Mutation_p.Y194H|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Intron|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.Y143H|IL23R_uc010opn.1_Missense_Mutation_p.Y242H|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.Y256H|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.Y226H|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.Y194H|IL23R_uc010opt.1_Missense_Mutation_p.Y38H|IL23R_uc010opu.1_Missense_Mutation_p.Y93H|IL23R_uc010opv.1_Missense_Mutation_p.Y155H|IL23R_uc010opw.1_Missense_Mutation_p.Y32H|IL23R_uc010opx.1_Missense_Mutation_p.Y38H|IL23R_uc010opy.1_Missense_Mutation_p.Y164H|IL23R_uc010opz.1_Missense_Mutation_p.Y38H|IL23R_uc010oqa.1_Missense_Mutation_p.Y38H|IL23R_uc010oqb.1_Missense_Mutation_p.Y226H|IL23R_uc010oqc.1_Missense_Mutation_p.Y113H|IL23R_uc010oqd.1_Missense_Mutation_p.Y32H|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Missense_Mutation_p.Y38H|IL23R_uc001dds.2_Missense_Mutation_p.Y142H|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	397	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0																		---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67787284	67787284	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67787284G>C	uc001ddu.2	+	3	717	c.77_splice	c.e3-1	p.D26_splice	IL12RB2_uc010oqi.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqj.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqm.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550			interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67885689	67885689	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67885689T>A	uc001ddv.2	-						SERBP1_uc001ddx.2_Intron|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	NM_001018067	NP_001018077			SERPINE1 mRNA binding protein 1 isoform 1						regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70226075	70226075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70226075A>G	uc001dep.2	+	1	218	c.188A>G	c.(187-189)AAG>AGG	p.K63R	LRRC7_uc001deo.1_Missense_Mutation_p.K101R|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493845	70493845	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70493845A>T	uc001dep.2	+						LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845			leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504911	70504911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70504911C>T	uc001dep.2	+	19	3320	c.3290C>T	c.(3289-3291)GCT>GTT	p.A1097V	LRRC7_uc009wbg.2_Missense_Mutation_p.A381V|LRRC7_uc001deq.2_Missense_Mutation_p.A338V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1097						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	74737329	74737329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74737329A>G	uc001dgf.1	+	5	432	c.381A>G	c.(379-381)ATA>ATG	p.I127M	TNNI3K_uc001dgc.1_Missense_Mutation_p.I228M|TNNI3K_uc001dgd.2_Missense_Mutation_p.I228M|TNNI3K_uc001dge.1_Missense_Mutation_p.I228M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	127	ANK 2.			I -> V (in Ref. 8; AAH32865).		cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75036811	75036811	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75036811A>G	uc001dgg.2	-	14	4802	c.4583T>C	c.(4582-4584)ATG>ACG	p.M1528T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1528										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75072508	75072508	+	Missense_Mutation	SNP	C	A	A	rs138387900	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75072508C>A	uc001dgg.2	-	10	1485	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E216D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	422	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75175906	75175906	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75175906G>T	uc001dgk.2	-	7	1011	c.506C>A	c.(505-507)GCT>GAT	p.A169D	CRYZ_uc001dgj.2_Missense_Mutation_p.A169D|CRYZ_uc001dgl.2_Missense_Mutation_p.A169D|CRYZ_uc001dgm.2_Missense_Mutation_p.A32D	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	169					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)													---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76257267	76257267	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76257267A>T	uc001dgy.1	+						RABGGTB_uc009wbt.1_Intron|RABGGTB_uc001dha.1_Intron|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573			RAB geranylgeranyltransferase, beta subunit						protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1																		---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76384670	76384670	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76384670A>G	uc001dhe.1	-	3	995	c.855T>C	c.(853-855)GCT>GCC	p.A285A	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	285	SOCS box.				intracellular signal transduction					ovary(1)	1																		---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77528783	77528783	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77528783A>G	uc001dhi.2	+	5	1078	c.903A>G	c.(901-903)AAA>AAG	p.K301K	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	301	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2																		---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78047779	78047779	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78047779A>G	uc001dhq.2	-	7	2153	c.1677T>C	c.(1675-1677)GTT>GTC	p.V559V	ZZZ3_uc001dhr.2_Silent_p.V65V|ZZZ3_uc001dhp.2_Silent_p.V559V	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78163606	78163606	+	Silent	SNP	A	G	G	rs35826044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78163606A>G	uc001dht.2	-	24	2960	c.2613T>C	c.(2611-2613)GGT>GGC	p.G871G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.V558A|USP33_uc001dhu.2_Silent_p.G840G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	871	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78194238	78194238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78194238A>G	uc001dht.2	-	11	1317	c.970T>C	c.(970-972)TGT>CGT	p.C324R	USP33_uc001dhs.2_Missense_Mutation_p.C45R|USP33_uc001dhu.2_Missense_Mutation_p.C293R|USP33_uc001dhv.2_Missense_Mutation_p.C129R|USP33_uc001dhw.2_Missense_Mutation_p.C324R	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	324					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78205094	78205094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78205094C>T	uc001dht.2	-	6	647	c.300G>A	c.(298-300)AAG>AAA	p.K100K	USP33_uc001dhu.2_Silent_p.K69K|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Silent_p.K100K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	100	UBP-type.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78207399	78207399	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78207399T>C	uc001dht.2	-	3	424	c.77A>G	c.(76-78)GAA>GGA	p.E26G	USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.E26G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	26					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78425903	78425903	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78425903A>T	uc001dii.2	-	16	1631	c.1542T>A	c.(1540-1542)TAT>TAA	p.Y514*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.Y535*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	514	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78429943	78429943	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78429943C>T	uc001dii.2	-	11	1025	c.936G>A	c.(934-936)AAG>AAA	p.K312K	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.K333K	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	312	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82432273	82432273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82432273T>C	uc001dit.3	+	12	2459	c.2278T>C	c.(2278-2280)TTT>CTT	p.F760L	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F760L|LPHN2_uc001div.2_Missense_Mutation_p.F760L|LPHN2_uc009wcd.2_Missense_Mutation_p.F760L|LPHN2_uc001diw.2_Missense_Mutation_p.F344L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	773	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82436047	82436047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82436047C>T	uc001dit.3	+	15	2913	c.2732C>T	c.(2731-2733)GCT>GTT	p.A911V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A911V|LPHN2_uc001div.2_Missense_Mutation_p.A911V|LPHN2_uc009wcd.2_Missense_Mutation_p.A911V|LPHN2_uc001diw.2_Missense_Mutation_p.A495V|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	924	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82447656	82447656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82447656A>G	uc001dit.3	+	18	3408	c.3227A>G	c.(3226-3228)AAG>AGG	p.K1076R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K1076R|LPHN2_uc001div.2_Missense_Mutation_p.K1076R|LPHN2_uc009wcd.2_Missense_Mutation_p.K1076R|LPHN2_uc001diw.2_Missense_Mutation_p.K660R|LPHN2_uc009wce.1_Missense_Mutation_p.K177R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1089	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82452676	82452676	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82452676A>G	uc001dit.3	+						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Intron|LPHN2_uc001div.2_Intron|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Silent_p.V767V	NM_012302	NP_036434			latrophilin 2 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82456638	82456638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82456638T>C	uc001dit.3	+	21	4202	c.4021T>C	c.(4021-4023)TCC>CCC	p.S1341P	LPHN2_uc001dis.2_Missense_Mutation_p.S321P|LPHN2_uc001diu.2_Missense_Mutation_p.S1341P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S968P	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1397	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84348635	84348635	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84348635T>C	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84394887	84394887	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84394887A>G	uc001djc.2	-	10	1470	c.1074T>C	c.(1072-1074)ACT>ACC	p.T358T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	358	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403686	84403686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403686A>G	uc001djc.2	-	8	1133	c.737T>C	c.(736-738)ATG>ACG	p.M246T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	246	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403704	84403704	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403704A>G	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84417647	84417647	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84417647G>A	uc001djc.2	-	3	434	c.38C>T	c.(37-39)CCC>CTC	p.P13L	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	13				P -> S (in Ref. 1; AAO37763).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84864327	84864327	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84864327C>T	uc001djt.1	+	1	113	c.80C>T	c.(79-81)GCA>GTA	p.A27V	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	27					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)									Direct_reversal_of_damage					---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020676	85020676	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020676A>G	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85128059	85128059	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85128059C>T	uc001dkh.2	-	9	1025	c.750_splice	c.e9-1	p.R250_splice	SSX2IP_uc001dkf.2_Splice_Site_p.R223_splice|SSX2IP_uc001dkg.2_Splice_Site|SSX2IP_uc010orz.1_Splice_Site_p.R223_splice|SSX2IP_uc001dki.2_Splice_Site_p.R250_splice|SSX2IP_uc010osa.1_Splice_Site_p.R223_splice|SSX2IP_uc001dkj.2_Splice_Site_p.R250_splice|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Splice_Site_p.R246_splice	NM_014021	NP_054740			synovial sarcoma, X breakpoint 2 interacting						cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85279740	85279740	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85279740A>C	uc001dkl.2	-	2	890	c.851T>G	c.(850-852)CTC>CGC	p.L284R	LPAR3_uc009wcj.1_Missense_Mutation_p.L284R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	284	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5																		---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86246964	86246964	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86246964G>A	uc001dlj.2	-						COL24A1_uc001dli.2_Intron|COL24A1_uc010osd.1_Intron|COL24A1_uc001dlk.2_Intron|COL24A1_uc010ose.1_Intron|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850			collagen, type XXIV, alpha 1 precursor						cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86891127	86891127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86891127A>G	uc001dlr.3	+	2	454	c.292A>G	c.(292-294)AAC>GAC	p.N98D		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	98	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)														---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89226053	89226053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89226053T>C	uc001dmn.2	+	3	840	c.498T>C	c.(496-498)TCT>TCC	p.S166S	PKN2_uc001dmm.1_Silent_p.S166S|PKN2_uc010osp.1_Silent_p.S166S|PKN2_uc010osq.1_Silent_p.S9S|PKN2_uc009wcv.2_Silent_p.S166S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	166	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89323054	89323054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89323054A>G	uc001dmo.3	-	6	771	c.652T>C	c.(652-654)TTC>CTC	p.F218L		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)														---	---	---	---
GBP1	2633	broad.mit.edu	37	1	89521797	89521797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89521797C>T	uc001dmx.2	-	8	1490	c.1270G>A	c.(1270-1272)GCG>ACG	p.A424T		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	424					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)														---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89727976	89727976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89727976T>C	uc001dnc.2	-	11	2111	c.1574A>G	c.(1573-1575)CAA>CGA	p.Q525R	GBP5_uc001dnd.2_Missense_Mutation_p.Q525R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	525						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)														---	---	---	---
LRRC8D	55144	broad.mit.edu	37	1	90400154	90400154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90400154T>C	uc001dnm.2	+	3	1952	c.1527T>C	c.(1525-1527)ATT>ATC	p.I509I	LRRC8D_uc001dnn.2_Silent_p.I509I	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	509						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)														---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90487907	90487907	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90487907A>C	uc001dnq.2	+						ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021			zinc finger protein 326 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)														---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91180132	91180132	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91180132G>A	uc001dns.2	-	2	849	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	269	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91382481	91382481	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91382481T>A	uc001dnw.2	-	6	4000	c.3858A>T	c.(3856-3858)CGA>CGT	p.R1286R	ZNF644_uc001dnv.2_Silent_p.R64R|ZNF644_uc001dnx.2_Silent_p.R64R	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406878	91406878	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91406878A>G	uc001dnw.2	-						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Intron	NM_201269	NP_958357			zinc finger protein 644 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91779569	91779569	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91779569C>T	uc001doa.3	-	29	3289	c.3189G>A	c.(3187-3189)GTG>GTA	p.V1063V	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.V742V|HFM1_uc001dob.3_Silent_p.V251V|HFM1_uc010osv.1_Silent_p.V747V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1063	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91816380	91816380	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91816380A>G	uc001doa.3	-	18	2221	c.2121T>C	c.(2119-2121)CAT>CAC	p.H707H	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.H386H|HFM1_uc010osv.1_Silent_p.H391H	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92428390	92428390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92428390C>T	uc001dok.3	+	2	428	c.79C>T	c.(79-81)CGA>TGA	p.R27*	BRDT_uc001dol.3_Nonsense_Mutation_p.R27*|BRDT_uc010osz.1_Nonsense_Mutation_p.R27*|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Nonsense_Mutation_p.R27*|BRDT_uc010otb.1_Nonsense_Mutation_p.R27*|BRDT_uc001dom.3_Nonsense_Mutation_p.R27*	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92433761	92433761	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92433761T>C	uc001dok.3	+	4	738	c.389T>C	c.(388-390)TTA>TCA	p.L130S	BRDT_uc001dol.3_Missense_Mutation_p.L130S|BRDT_uc010osz.1_Missense_Mutation_p.L130S|BRDT_uc009wdf.2_Missense_Mutation_p.L57S|BRDT_uc010ota.1_Missense_Mutation_p.L84S|BRDT_uc010otb.1_Missense_Mutation_p.L84S|BRDT_uc001dom.3_Missense_Mutation_p.L130S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94033334	94033334	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94033334C>T	uc001dpz.2	-	10	2324	c.2049G>A	c.(2047-2049)CAG>CAA	p.Q683Q	BCAR3_uc001dqa.2_Silent_p.Q683Q|BCAR3_uc001dqb.2_Silent_p.Q683Q|BCAR3_uc001dpx.3_Silent_p.Q359Q|BCAR3_uc001dpy.2_Silent_p.Q592Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	683	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94049596	94049596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94049596A>G	uc001dpz.2	-	6	1287	c.1012T>C	c.(1012-1014)TCA>CCA	p.S338P	BCAR3_uc001dqa.2_Missense_Mutation_p.S338P|BCAR3_uc001dqb.2_Missense_Mutation_p.S338P|BCAR3_uc001dpx.3_Missense_Mutation_p.S14P|BCAR3_uc001dpy.2_Missense_Mutation_p.S247P|BCAR3_uc009wdm.1_Missense_Mutation_p.S14P	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	338					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94054955	94054955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94054955G>A	uc001dpz.2	-	5	783	c.508C>T	c.(508-510)CGA>TGA	p.R170*	BCAR3_uc001dqa.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.R79*|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	170	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94335500	94335500	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94335500T>A	uc001dqf.2	-	7	2216	c.2178A>T	c.(2176-2178)AGA>AGT	p.R726S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94338708	94338708	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94338708A>G	uc001dqf.2	-	4	1907	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94476478	94476478	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94476478C>T	uc001dqh.2	-	40	5696	c.5592G>A	c.(5590-5592)GAG>GAA	p.E1864E	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E132E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1864					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94544162	94544162	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94544162T>C	uc001dqh.2	-	10	1444	c.1340A>G	c.(1339-1341)CAG>CGG	p.Q447R	ABCA4_uc010otn.1_Missense_Mutation_p.Q447R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	447	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCD3	5825	broad.mit.edu	37	1	94955477	94955477	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94955477T>G	uc001dqn.3	+	15	1370	c.1268T>G	c.(1267-1269)GTC>GGC	p.V423G	ABCD3_uc010oto.1_Missense_Mutation_p.V447G|ABCD3_uc010otp.1_Missense_Mutation_p.V350G|ABCD3_uc009wdr.2_Missense_Mutation_p.V313G|ABCD3_uc001dqo.3_Missense_Mutation_p.V111G	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	423					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)														---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97250813	97250813	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97250813A>T	uc001drq.2	+						PTBP2_uc001drn.2_Intron|PTBP2_uc001dro.2_Intron|PTBP2_uc010otz.1_Intron|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drr.2_Intron|PTBP2_uc010oua.1_Intron|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron	NM_021190	NP_067013			polypyrimidine tract binding protein 2								nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97839124	97839124	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97839124C>T	uc001drv.2	-	16	2188	c.2051G>A	c.(2050-2052)TGT>TAT	p.C684Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	684					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99771407G>A	uc001dse.2	+	7	1239	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	LPPR4_uc010oue.1_Missense_Mutation_p.R320Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	378							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100525469	100525469	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100525469T>C	uc001dst.2	+	4	279	c.279T>C	c.(277-279)GGT>GGC	p.G93G		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	93	Helical; Name=2; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100547720	100547720	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100547720G>A	uc001dst.2	+	12	1428	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	476	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100588820	100588820	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100588820T>C	uc001dsu.2	-	3	293	c.152A>G	c.(151-153)GAC>GGC	p.D51G	SASS6_uc009wdz.2_Intron	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	51	PISA.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100733760	100733760	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100733760C>T	uc001dtc.2	+	3	417	c.199C>T	c.(199-201)CTG>TTG	p.L67L	RTCD1_uc010ouh.1_Silent_p.L67L|RTCD1_uc001dtd.2_Silent_p.L80L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	67					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100740491	100740491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100740491A>G	uc001dtc.2	+	6	803	c.585A>G	c.(583-585)AGA>AGG	p.R195R	RTCD1_uc001dtd.2_Silent_p.R208R	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	195					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101431466	101431466	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101431466T>A	uc001dtn.2	+	10	1262	c.1075T>A	c.(1075-1077)TTT>ATT	p.F359I	SLC30A7_uc001dto.2_Missense_Mutation_p.F359I	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	359	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)														---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101458252	101458252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101458252T>C	uc001dts.2	-	7	722	c.575A>G	c.(574-576)CAA>CGA	p.Q192R	DPH5_uc001dtr.2_Missense_Mutation_p.Q192R|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Missense_Mutation_p.Q192R|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Missense_Mutation_p.Q71R|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	192					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)														---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102290762	102290762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102290762G>A	uc001duf.2	-	4	543	c.472C>T	c.(472-474)CCC>TCC	p.P158S	OLFM3_uc001dug.2_Missense_Mutation_p.P138S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.P63S|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	158	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104118128	104118128	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:104118128G>A	uc001duq.2	+	9	1683	c.1067G>A	c.(1066-1068)AGC>AAC	p.S356N	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S356N|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	356					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107867139	107867139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107867139T>C	uc001dvh.3	+	3	1200	c.482T>C	c.(481-483)ATC>ACC	p.I161T	NTNG1_uc001dvf.3_Missense_Mutation_p.I161T|NTNG1_uc010out.1_Missense_Mutation_p.I161T|NTNG1_uc001dvc.3_Missense_Mutation_p.I161T|NTNG1_uc001dvd.1_Missense_Mutation_p.I161T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	161	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107973538	107973538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107973538A>G	uc001dvh.3	+	6	1972	c.1254A>G	c.(1252-1254)ATA>ATG	p.I418M	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	418	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109154855	109154855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109154855G>A	uc010ouy.1	+	4	424	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	115										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)														---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109321945	109321945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109321945G>A	uc001dvy.2	+	9	797	c.722G>A	c.(721-723)GGC>GAC	p.G241D	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	241	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)														---	---	---	---
CLCC1	23155	broad.mit.edu	37	1	109482311	109482311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109482311T>C	uc001dwe.1	-	9	1080	c.988A>G	c.(988-990)ATT>GTT	p.I330V	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.I330V|CLCC1_uc001dwg.1_Missense_Mutation_p.I280V|CLCC1_uc009wes.1_Missense_Mutation_p.I209V|CLCC1_uc009wet.1_Missense_Mutation_p.I145V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	330	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)														---	---	---	---
KIAA1324	57535	broad.mit.edu	37	1	109742558	109742558	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109742558G>A	uc001dwq.2	+	20	2720	c.2584G>A	c.(2584-2586)GCT>ACT	p.A862T	KIAA1324_uc009wex.1_Missense_Mutation_p.A812T|KIAA1324_uc009wey.2_Missense_Mutation_p.A775T|KIAA1324_uc010ovg.1_Missense_Mutation_p.A760T|KIAA1324_uc001dwr.2_Missense_Mutation_p.A512T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	862	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)														---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110129475	110129475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110129475C>T	uc001dxz.2	+	7	1002	c.845C>T	c.(844-846)CCG>CTG	p.P282L		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	282					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)														---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110203856	110203856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110203856G>A	uc001dyf.2	+	8	951	c.637G>A	c.(637-639)GCT>ACT	p.A213T	GSTM4_uc001dyg.2_Missense_Mutation_p.A109T|GSTM4_uc009wfj.2_Missense_Mutation_p.A152T|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	213					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110555579	110555579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110555579T>C	uc001dyx.2	+	5	905	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	AHCYL1_uc010ovw.1_Missense_Mutation_p.Y133H|AHCYL1_uc001dyy.2_Missense_Mutation_p.Y133H|AHCYL1_uc010ovx.1_Missense_Mutation_p.Y133H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	180					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---
FAM40A	85369	broad.mit.edu	37	1	110580588	110580588	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110580588G>A	uc001dza.1	+						FAM40A_uc001dyz.1_Intron|FAM40A_uc009wfp.1_Intron	NM_033088	NP_149079			hypothetical protein LOC85369							nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)														---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110737212	110737212	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110737212C>T	uc009wfq.2	+	9	1772	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	SLC6A17_uc001dze.1_Silent_p.G35G	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	437	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)														---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111059927	111059927	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111059927C>A	uc001dzt.1	-	1	1871	c.1483G>T	c.(1483-1485)GAC>TAC	p.D495Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	495						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
C1orf103	55791	broad.mit.edu	37	1	111490579	111490579	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111490579T>C	uc001eaa.2	-	4					C1orf103_uc001dzz.2_3'UTR|C1orf103_uc001eab.2_3'UTR|C1orf103_uc001eac.1_3'UTR	NM_018372	NP_060842			receptor-interacting factor 1 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)														---	---	---	---
DRAM2	128338	broad.mit.edu	37	1	111668915	111668915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111668915C>T	uc001ead.3	-	4	390	c.133G>A	c.(133-135)GAC>AAC	p.D45N	DRAM2_uc001eae.3_Missense_Mutation_p.D45N|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	45					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0																		---	---	---	---
C1orf88	128344	broad.mit.edu	37	1	111891127	111891127	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111891127C>G	uc001eaw.2	+						C1orf88_uc001eax.2_Intron|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_5'UTR	NM_181643	NP_857594			hypothetical protein LOC128344											ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---
C1orf162	128346	broad.mit.edu	37	1	112020302	112020302	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112020302G>A	uc001ebe.2	+	5	292	c.232G>A	c.(232-234)GGC>AGC	p.G78S		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	78						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
RAP1A	5906	broad.mit.edu	37	1	112247110	112247110	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112247110T>A	uc001ebi.2	+	6	572	c.468_splice	c.e6+2	p.E156_splice	RAP1A_uc001ebk.2_Splice_Site_p.E156_splice|RAP1A_uc001ebl.2_Splice_Site_p.E156_splice|RAP1A_uc001ebm.2_Splice_Site	NM_002884	NP_002875			RAP1A, member of RAS oncogene family precursor						activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112991688	112991688	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112991688T>A	uc001ebx.2	+	4	452	c.224T>A	c.(223-225)GTC>GAC	p.V75D		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	75						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998596	112998596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998596A>G	uc001ebx.2	+	6	710	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	161	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998647	112998647	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998647T>A	uc001ebx.2	+	6	761	c.533T>A	c.(532-534)CTC>CAC	p.L178H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	178	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113197105	113197105	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113197105G>A	uc001ecj.1	+	5	630	c.238G>A	c.(238-240)GGT>AGT	p.G80S		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113217525	113217525	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113217525C>A	uc001eck.2	+	2					MOV10_uc001ecl.2_5'UTR|MOV10_uc001ecn.2_5'UTR|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	NM_001130079	NP_001123551			Mov10, Moloney leukemia virus 10, homolog						mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113238807	113238807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113238807T>C	uc001eck.2	+	12	2087	c.1817T>C	c.(1816-1818)GTA>GCA	p.V606A	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V606A|MOV10_uc001ecm.2_Missense_Mutation_p.V546A|MOV10_uc009wgj.1_Missense_Mutation_p.V546A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	606					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113653183	113653183	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113653183T>C	uc001edf.1	+	13	1995	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	LRIG2_uc009wgn.1_Silent_p.N496N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	599	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114184904	114184904	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114184904A>T	uc001edk.2	+	10	1913	c.1732A>T	c.(1732-1734)ACT>TCT	p.T578S	MAGI3_uc001edh.3_Missense_Mutation_p.T603S|MAGI3_uc001edi.3_Missense_Mutation_p.T578S|MAGI3_uc010owm.1_Missense_Mutation_p.T603S|MAGI3_uc001edj.2_Missense_Mutation_p.T299S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	603	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114247337	114247337	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114247337T>C	uc009wgp.1	-	13	2206	c.1754A>G	c.(1753-1755)AAG>AGG	p.K585R	PHTF1_uc001edn.2_Missense_Mutation_p.K585R|PHTF1_uc001edm.2_Missense_Mutation_p.K342R	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	585						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114310883	114310883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114310883G>T	uc001edq.2	-	5	1823	c.1787C>A	c.(1786-1788)GCT>GAT	p.A596D	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	596						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114320291	114320291	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114320291A>G	uc001edq.2	-	3	1551	c.1515_splice	c.e3+1	p.K505_splice	RSBN1_uc001edr.2_Splice_Site	NM_018364	NP_060834			round spermatid basic protein 1							nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114447319	114447319	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114447319C>A	uc001eeb.2	-	1	164	c.21G>T	c.(19-21)GAG>GAT	p.E7D	AP4B1_uc001eec.2_Missense_Mutation_p.E7D|AP4B1_uc001eed.2_Missense_Mutation_p.E7D|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Missense_Mutation_p.E7D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114450717	114450717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114450717A>G	uc001eeg.2	+	3	613	c.442A>G	c.(442-444)AAT>GAT	p.N148D	AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|DCLRE1B_uc001eeh.2_Missense_Mutation_p.N22D|DCLRE1B_uc001eei.2_Missense_Mutation_p.N22D	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	148					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114508904	114508904	+	Intron	SNP	C	A	A	rs79568971		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114508904C>A	uc001eem.2	+						HIPK1_uc001eel.2_Intron|HIPK1_uc001een.2_Intron|HIPK1_uc001eeo.2_Intron|HIPK1_uc001eep.2_Intron|HIPK1_uc001eeq.2_Intron	NM_198268	NP_938009			homeodomain-interacting protein kinase 1 isoform						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114680358	114680358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114680358C>T	uc001eev.2	-	3	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	277	Cytoplasmic (Potential).|C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114682276	114682276	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114682276C>T	uc001eev.2	-	2	468	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	158	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940429	114940429	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940429A>G	uc001eew.2	-	20	3309	c.3225T>C	c.(3223-3225)GAT>GAC	p.D1075D	TRIM33_uc010owr.1_Silent_p.D689D|TRIM33_uc010ows.1_Silent_p.D707D|TRIM33_uc001eex.2_Silent_p.D1058D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1075					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940559	114940559	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940559T>C	uc001eew.2	-						TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114970520	114970520	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114970520A>C	uc001eew.2	-						TRIM33_uc010owr.1_5'Flank|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
DENND2C	163259	broad.mit.edu	37	1	115130002	115130002	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115130002A>G	uc001efd.1	-						DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Intron	NM_198459	NP_940861			DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115221074	115221074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115221074T>C	uc001efe.1	-	8	1056	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	AMPD1_uc001eff.1_Silent_p.Q320Q	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	324					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)													---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115261368	115261368	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115261368T>C	uc001efk.2	-	19	2683	c.2217_splice	c.e19-1	p.C739_splice	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Splice_Site_p.C785_splice|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Splice_Site_p.C708_splice|CSDE1_uc001efm.2_Splice_Site_p.C754_splice|CSDE1_uc009wgv.2_Splice_Site_p.C739_splice|CSDE1_uc001efn.2_Splice_Site_p.C708_splice	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115282310	115282310	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115282310T>C	uc001efk.2	-						CSDE1_uc001efi.2_Intron|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Intron|CSDE1_uc001efm.2_Intron|CSDE1_uc009wgv.2_Intron|CSDE1_uc001efn.2_Intron	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115418740	115418740	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115418740A>T	uc001efr.2	+	10	917	c.708A>T	c.(706-708)AGA>AGT	p.R236S	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R236S|SYCP1_uc009wgw.2_Missense_Mutation_p.R236S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	236	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TSHB	7252	broad.mit.edu	37	1	115576796	115576796	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115576796C>A	uc001efs.1	+	3	433	c.365C>A	c.(364-366)ACA>AAA	p.T122K		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	122					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)														---	---	---	---
NHLH2	4808	broad.mit.edu	37	1	116380781	116380781	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116380781G>C	uc009wgz.2	-	2	718	c.213C>G	c.(211-213)CGC>CGG	p.R71R	NHLH2_uc001efy.2_Silent_p.R71R	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	71	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116937812	116937812	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116937812G>A	uc001ege.2	+	13	2080	c.1741G>A	c.(1741-1743)GAT>AAT	p.D581N	ATP1A1_uc010owv.1_Missense_Mutation_p.D550N|ATP1A1_uc010oww.1_Missense_Mutation_p.D581N|ATP1A1_uc010owx.1_Missense_Mutation_p.D550N|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	581	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)													---	---	---	---
CD101	9398	broad.mit.edu	37	1	117552590	117552590	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117552590G>T	uc010oxb.1	+	2	220	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CD101_uc009whd.2_Missense_Mutation_p.Q54H|CD101_uc010oxc.1_Missense_Mutation_p.Q54H|CD101_uc010oxd.1_Missense_Mutation_p.Q54H	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	54	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561006	117561006	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117561006C>T	uc010oxb.1	+	6	1899	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M	CD101_uc009whd.2_Missense_Mutation_p.T614M|CD101_uc010oxc.1_Missense_Mutation_p.T614M|CD101_uc010oxd.1_Missense_Mutation_p.T552M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	614	Extracellular (Potential).|Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117617696	117617696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117617696G>A	uc001egy.2	+	5	510	c.490G>A	c.(490-492)GAT>AAT	p.D164N	TTF2_uc001egx.1_Missense_Mutation_p.D164N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	164					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117634487	117634487	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117634487A>T	uc001egy.2	+	17	2740	c.2720A>T	c.(2719-2721)GAC>GTC	p.D907V	MIR942_hsa-mir-942|MI0005767_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	907					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
VTCN1	79679	broad.mit.edu	37	1	117695702	117695702	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117695702C>T	uc001ehb.2	-						VTCN1_uc001ehc.2_Intron|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902			V-set domain containing T cell activation							integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)														---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118009007	118009007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118009007T>C	uc001ehd.1	+	8	1847	c.1126T>C	c.(1126-1128)TAT>CAT	p.Y376H	MAN1A2_uc009whg.1_Missense_Mutation_p.Y166H	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	376	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)														---	---	---	---
FAM46C	54855	broad.mit.edu	37	1	118165851	118165851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118165851C>T	uc001ehe.2	+	2	560	c.361C>T	c.(361-363)CCA>TCA	p.P121S		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	121											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)											Multiple Myeloma(3;1.13e-06)			---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118483468	118483468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118483468C>T	uc010oxe.1	+	7	760	c.694C>T	c.(694-696)CCA>TCA	p.P232S	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P61S	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	232						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118516195	118516195	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118516195G>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118526430	118526430	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118526430T>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118527389	118527389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118527389T>C	uc001ehk.2	-	41	5754	c.5686A>G	c.(5686-5688)ACA>GCA	p.T1896A		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118530822	118530822	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118530822C>T	uc001ehk.2	-	39	5595	c.5527G>A	c.(5527-5529)GCT>ACT	p.A1843T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1843						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119584963	119584963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119584963T>C	uc001ehn.2	-	4	467	c.439A>G	c.(439-441)ACC>GCC	p.T147A	WARS2_uc010oxf.1_Missense_Mutation_p.T53A|WARS2_uc001ehm.2_Missense_Mutation_p.T147A|WARS2_uc010oxg.1_Missense_Mutation_p.T90A|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	147					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)													---	---	---	---
HAO2	51179	broad.mit.edu	37	1	119927387	119927387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119927387T>C	uc001ehq.1	+						HAO2_uc001ehr.1_Intron	NM_001005783	NP_001005783			hydroxyacid oxidase 2						fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)														---	---	---	---
PHGDH	26227	broad.mit.edu	37	1	120277395	120277395	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120277395T>G	uc001ehz.2	+						PHGDH_uc009whl.2_Missense_Mutation_p.C119G|PHGDH_uc009whm.2_Intron|PHGDH_uc001eia.2_Intron|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Intron	NM_006623	NP_006614			phosphoglycerate dehydrogenase						brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)													---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144867919	144867919	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144867919A>G	uc001elw.3	-	33	5809	c.5518_splice	c.e33+1	p.G1840_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.G1734_splice|PDE4DIP_uc001elv.3_Splice_Site_p.G847_splice|PDE4DIP_uc001ema.2_Intron	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882879	144882879	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882879T>G	uc001elw.3	-	24	3431	c.3140A>C	c.(3139-3141)AAC>ACC	p.N1047T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1113T|PDE4DIP_uc001elv.3_Missense_Mutation_p.N54T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1047					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144917847	144917847	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144917847C>T	uc001elw.3	-	11	1730	c.1439G>A	c.(1438-1440)CGA>CAA	p.R480Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R546Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R643Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R9Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R267Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	480	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144921944	144921944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144921944A>G	uc001elw.3	-	9	1376	c.1085T>C	c.(1084-1086)GTA>GCA	p.V362A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V428A|PDE4DIP_uc001emc.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emd.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emb.1_Missense_Mutation_p.V525A|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.V149A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	362	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145535890	145535890	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145535890A>T	uc001eoa.2	+	16	2154	c.2078A>T	c.(2077-2079)GAT>GTT	p.D693V	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.D562V|ITGA10_uc009wiw.2_Missense_Mutation_p.D550V|ITGA10_uc010oyw.1_Missense_Mutation_p.D638V	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	693	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562806	145562806	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145562806C>T	uc001eob.1	+	10	2602	c.2494C>T	c.(2494-2496)CTA>TTA	p.L832L	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.L675L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
RNF115	27246	broad.mit.edu	37	1	145646131	145646131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145646131G>A	uc001eoj.2	+	2	323	c.119G>A	c.(118-120)AGA>AAA	p.R40K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_5'UTR|RNF115_uc009wiy.2_5'UTR	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	40					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PRKAB2	5565	broad.mit.edu	37	1	146633349	146633349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146633349G>A	uc001epe.2	-	7	828	c.683C>T	c.(682-684)GCC>GTC	p.A228V	PRKAB2_uc010ozm.1_Missense_Mutation_p.A146V|PRKAB2_uc010ozn.1_Missense_Mutation_p.P106S|PRKAB2_uc009wjf.1_Missense_Mutation_p.A228V	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	228					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)													---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146680462	146680462	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146680462A>G	uc001epi.2	-	6	1171	c.782T>C	c.(781-783)ATA>ACA	p.I261T	FMO5_uc001eph.3_Missense_Mutation_p.I261T|FMO5_uc001epj.2_Missense_Mutation_p.I261T|FMO5_uc001epk.3_Missense_Mutation_p.I261T	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	261						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)																	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146766192	146766192	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146766192A>G	uc001epm.3	+	22	2671	c.2608A>G	c.(2608-2610)ACT>GCT	p.T870A	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.T757A|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.T776A|CHD1L_uc010ozp.1_Missense_Mutation_p.T589A|CHD1L_uc001epo.3_Missense_Mutation_p.T666A|CHD1L_uc009wji.2_Missense_Mutation_p.T589A	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	870	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147090655	147090655	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147090655A>G	uc001epq.2	+	8	1434	c.694A>G	c.(694-696)AAA>GAA	p.K232E	BCL9_uc010ozr.1_Missense_Mutation_p.K158E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	232	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147131101	147131101	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147131101G>T	uc001epr.2	-	4	997	c.533C>A	c.(532-534)GCT>GAT	p.A178D	ACP6_uc009wjj.1_Missense_Mutation_p.A135D	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	178					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)																	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149857887	149857887	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149857887G>T	uc001etc.2	-	1	346	c.304C>A	c.(304-306)CTG>ATG	p.L102M	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	102					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858906	149858906	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858906A>G	uc001etd.2	+	1	382	c.382A>G	c.(382-384)AGC>GGC	p.S128G	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	128					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149880804	149880804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149880804C>T	uc001etg.2	-	8	1810	c.1319G>A	c.(1318-1320)GGT>GAT	p.G440D	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G440D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	440	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149884847	149884847	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149884847C>A	uc001etg.2	-	2	1037	c.546G>T	c.(544-546)GAG>GAT	p.E182D	SV2A_uc001eth.2_Missense_Mutation_p.E182D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	182	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149903306	149903306	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149903306C>T	uc001etl.3	-	13	1387	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	MTMR11_uc001etm.1_Missense_Mutation_p.R307H|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Intron	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	379	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916322	149916322	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149916322C>A	uc001etn.2	-	12	2322	c.1966G>T	c.(1966-1968)GGA>TGA	p.G656*		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	656					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150065723	150065723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150065723G>A	uc001etp.2	+	13	2045	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.G455D|VPS45_uc010pbs.1_Missense_Mutation_p.G386D|VPS45_uc001etq.2_Missense_Mutation_p.G311D|VPS45_uc009wlm.1_Missense_Mutation_p.G467D	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	491					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444063	150444063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444063C>T	uc009wlr.2	+	11	2840	c.2639C>T	c.(2638-2640)GCC>GTC	p.A880V	RPRD2_uc010pcc.1_Missense_Mutation_p.A854V|RPRD2_uc001eup.3_Missense_Mutation_p.A854V	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	880	Ser-rich.						protein binding			ovary(1)	1																		---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444378	150444378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444378C>T	uc009wlr.2	+	11	3155	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M	RPRD2_uc010pcc.1_Silent_p.H912H|RPRD2_uc001eup.3_Missense_Mutation_p.T959M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	985							protein binding			ovary(1)	1																		---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150525402	150525402	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150525402C>A	uc001eux.2	+	5	343	c.107C>A	c.(106-108)CCT>CAT	p.P36H	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P36H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	36					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530529	150530529	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150530529C>A	uc001eux.2	+	14	2522	c.2286C>A	c.(2284-2286)CCC>CCA	p.P762P	ADAMTSL4_uc001euw.2_Silent_p.P762P|ADAMTSL4_uc009wlw.2_Silent_p.P785P|ADAMTSL4_uc010pcg.1_Silent_p.P723P|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	762	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150531943	150531943	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150531943G>A	uc001eux.2	+	17	3179	c.2943_splice	c.e17+1	p.P981_splice	ADAMTSL4_uc009wlw.2_Splice_Site_p.P1004_splice|ADAMTSL4_uc010pcg.1_Splice_Site_p.P942_splice|ADAMTSL4_uc009wlx.2_Splice_Site_p.P144_splice	NM_019032	NP_061905			thrombospondin repeat containing 1 isoform 1						apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)													OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151021160	151021160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151021160C>T	uc001ewn.2	+	1	902	c.837C>T	c.(835-837)ACC>ACT	p.T279T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	279						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)													OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMOD4	29765	broad.mit.edu	37	1	151143549	151143549	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151143549A>G	uc001exc.3	-						TMOD4_uc001exb.2_Intron|TMOD4_uc001exd.2_Intron|TMOD4_uc010pct.1_Intron	NM_013353	NP_037485			tropomodulin 4 (muscle)						muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151214608	151214608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151214608C>T	uc001exj.2	+	13	1825	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	PIP5K1A_uc001exi.2_Missense_Mutation_p.S445F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S418F|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	458					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151280078	151280078	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151280078T>G	uc001ext.2	-	4	1569	c.1154A>C	c.(1153-1155)CAG>CCG	p.Q385P	PI4KB_uc001exr.2_Missense_Mutation_p.Q397P|PI4KB_uc001exs.2_Missense_Mutation_p.Q370P|PI4KB_uc001exu.2_Missense_Mutation_p.Q370P|PI4KB_uc010pcw.1_Missense_Mutation_p.Q53P	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	385					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151315256	151315256	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151315256T>C	uc001exv.1	-	11	1471	c.1257A>G	c.(1255-1257)ATA>ATG	p.I419M	RFX5_uc001exw.1_Missense_Mutation_p.I419M|RFX5_uc009wmr.1_Missense_Mutation_p.I419M|RFX5_uc010pcx.1_Missense_Mutation_p.I379M	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	419						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151317258	151317258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151317258A>G	uc001exv.1	-	6	513	c.299T>C	c.(298-300)CTG>CCG	p.L100P	RFX5_uc001exw.1_Missense_Mutation_p.L100P|RFX5_uc009wmr.1_Missense_Mutation_p.L100P|RFX5_uc010pcx.1_Intron	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	100	RFX-type winged-helix.|Potential.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151378320	151378320	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151378320C>T	uc001eyd.1	-	19	3497	c.3191G>A	c.(3190-3192)GGG>GAG	p.G1064E	POGZ_uc001eye.1_Missense_Mutation_p.G1011E|POGZ_uc010pdb.1_Missense_Mutation_p.G1055E|POGZ_uc001eyf.1_Missense_Mutation_p.G1020E|POGZ_uc010pdc.1_Missense_Mutation_p.G1002E|POGZ_uc009wmv.1_Missense_Mutation_p.G969E|POGZ_uc010pdd.1_Missense_Mutation_p.G555E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1064	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151380621	151380621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151380621C>T	uc001eyd.1	-	15	2636	c.2330G>A	c.(2329-2331)CGC>CAC	p.R777H	POGZ_uc001eye.1_Missense_Mutation_p.R724H|POGZ_uc010pdb.1_Missense_Mutation_p.R768H|POGZ_uc001eyf.1_Missense_Mutation_p.R733H|POGZ_uc010pdc.1_Missense_Mutation_p.R715H|POGZ_uc009wmv.1_Missense_Mutation_p.R682H|POGZ_uc010pdd.1_Missense_Mutation_p.R268H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	777	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151400884	151400884	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151400884C>A	uc001eyd.1	-	6	880	c.574G>T	c.(574-576)GGT>TGT	p.G192C	POGZ_uc001eye.1_Missense_Mutation_p.G139C|POGZ_uc010pdb.1_Missense_Mutation_p.G192C|POGZ_uc001eyf.1_Missense_Mutation_p.G139C|POGZ_uc010pdc.1_Missense_Mutation_p.G139C|POGZ_uc009wmv.1_Missense_Mutation_p.G97C|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.G192C	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	192					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.G192D(1)		ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151506503	151506503	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151506503C>T	uc009wmw.2	+	15	2939	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	CGN_uc010pde.1_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	926	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151509216	151509216	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151509216G>A	uc009wmw.2	+	20	3461	c.3317G>A	c.(3316-3318)AGG>AAG	p.R1106K	CGN_uc010pde.1_Missense_Mutation_p.R100K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1100	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773766	151773766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151773766C>T	uc001ezf.1	-	2	1605	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	472	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058504	152058504	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152058504T>C	uc001ezo.1	-	3	1719	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	552							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083746	152083746	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152083746G>A	uc001ezp.2	-	2	1947	c.1947C>T	c.(1945-1947)CGC>CGT	p.R649R	TCHH_uc009wne.1_Silent_p.R649R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	649	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187664	152187664	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187664T>C	uc001ezt.1	-	3	6517	c.6441A>G	c.(6439-6441)GAA>GAG	p.E2147E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2147					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187726	152187726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187726A>G	uc001ezt.1	-	3	6455	c.6379T>C	c.(6379-6381)TCA>CCA	p.S2127P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2127	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187976	152187976	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187976A>G	uc001ezt.1	-	3	6205	c.6129T>C	c.(6127-6129)GGT>GGC	p.G2043G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2043	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191217	152191217	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152191217C>A	uc001ezt.1	-	3	2964	c.2888G>T	c.(2887-2889)AGG>ATG	p.R963M		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	963	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192748	152192748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152192748C>T	uc001ezt.1	-	3	1433	c.1357G>A	c.(1357-1359)GGC>AGC	p.G453S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	453	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152193216	152193216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275456	152275456	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152275456T>C	uc001ezu.1	-	3	11942	c.11906A>G	c.(11905-11907)CAA>CGA	p.Q3969R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3969					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152278805G>A	uc001ezu.1	-	3	8593	c.8557C>T	c.(8557-8559)CAC>TAC	p.H2853Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280937	152280937	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152280937G>A	uc001ezu.1	-	3	6461	c.6425C>T	c.(6424-6426)CCG>CTG	p.P2142L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282226	152282226	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152282226T>C	uc001ezu.1	-	3	5172	c.5136A>G	c.(5134-5136)CGA>CGG	p.R1712R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323458	152323458	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152323458T>G	uc001ezw.3	-	3	6877	c.6804A>C	c.(6802-6804)TCA>TCC	p.S2268S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2268							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325465	152325465	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152325465G>A	uc001ezw.3	-	3	4870	c.4797C>T	c.(4795-4797)TAC>TAT	p.Y1599Y	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152733357	152733357	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152733357T>C	uc001fal.1	+	2	1351	c.1293T>C	c.(1291-1293)TGT>TGC	p.C431C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	431	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152777882G>A	uc001fap.1	-	2	124	c.73C>T	c.(73-75)CCC>TCC	p.P25S		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
PGLYRP3	114771	broad.mit.edu	37	1	153274910	153274910	+	Missense_Mutation	SNP	G	A	A	rs149128791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153274910G>A	uc001fbn.1	-	5	756	c.703C>T	c.(703-705)CGG>TGG	p.R235W		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	235		Murein.			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
S100A3	6274	broad.mit.edu	37	1	153520239	153520239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153520239A>G	uc001fca.1	-	3	308	c.225T>C	c.(223-225)TAT>TAC	p.Y75Y	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	75	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153653743	153653743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153653743T>C	uc001fcs.3	+	3	1430	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	NPR1_uc010pdz.1_Missense_Mutation_p.F83L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	337	Extracellular (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)													---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153713206	153713206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153713206C>T	uc009wom.2	+	3	451	c.230C>T	c.(229-231)GCG>GTG	p.A77V	INTS3_uc001fct.2_Missense_Mutation_p.A77V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	77					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153914821	153914821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153914821G>A	uc001fdd.1	-	5	1053	c.652C>T	c.(652-654)CGC>TGC	p.R218C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	218	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153916525	153916525	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153916525G>A	uc001fdd.1	-							NM_014856	NP_055671			DENN/MADD domain containing 4B											ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947178	153947178	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947178G>A	uc001fds.2	-	5	1141	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	140	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947216C>T	uc001fds.2	-	5	1103	c.380G>A	c.(379-381)CGT>CAT	p.R127H		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	127	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153955047	153955047	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153955047G>A	uc001fdt.1	-	6	538	c.444C>T	c.(442-444)TTC>TTT	p.F148F	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	148					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153967602	153967602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153967602A>G	uc001fdw.2	-	38	5513	c.5441T>C	c.(5440-5442)CTG>CCG	p.L1814P	NUP210L_uc009woq.2_Missense_Mutation_p.L723P|NUP210L_uc010peh.1_Missense_Mutation_p.L1662P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1814	Helical; (Potential).					integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154091248	154091248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154091248G>A	uc001fdw.2	-	11	1435	c.1363C>T	c.(1363-1365)CAC>TAC	p.H455Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H455Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	455						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154228240	154228240	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154228240G>A	uc001fep.3	+						UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_Intron|UBAP2L_uc010pel.1_Intron|UBAP2L_uc010pen.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662			ubiquitin associated protein 2-like isoform a						binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544124	154544124	+	Silent	SNP	G	A	A	rs140739605		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154544124G>A	uc001ffg.2	+	5	1089	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	275	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)													---	---	---	---
ADAR	103	broad.mit.edu	37	1	154569657	154569657	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154569657T>C	uc001ffh.2	-	5	2221	c.2021A>G	c.(2020-2022)GAG>GGG	p.E674G	ADAR_uc001ffj.2_Missense_Mutation_p.E674G|ADAR_uc001ffi.2_Missense_Mutation_p.E674G|ADAR_uc001ffk.2_Missense_Mutation_p.E379G	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	674	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)														---	---	---	---
PMVK	10654	broad.mit.edu	37	1	154897634	154897634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154897634G>A	uc001ffq.2	-	5	873	c.550C>T	c.(550-552)CTG>TTG	p.L184L		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	184					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155147963	155147963	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155147963C>A	uc001fhs.1	+	2	248	c.165C>A	c.(163-165)GCC>GCA	p.A55A	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Silent_p.A42A|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.A55A|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Silent_p.A32A|TRIM46_uc009wpg.1_Silent_p.A42A|TRIM46_uc009wpf.2_Silent_p.A42A|TRIM46_uc001fhv.3_Silent_p.A42A|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	55	RING-type 1; degenerate.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155154445	155154445	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155154445G>A	uc001fhs.1	+	9	1789	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R443Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R546Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R556Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	569	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155169629	155169629	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155169629G>T	uc001fix.2	-	16	1869	c.1846C>A	c.(1846-1848)CTG>ATG	p.L616M	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.L607M|THBS3_uc001fiz.2_Missense_Mutation_p.L579M|THBS3_uc001fiy.2_Missense_Mutation_p.L145M|THBS3_uc010pfu.1_Missense_Mutation_p.L496M|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	616	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155220430	155220430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155220430G>A	uc001fjm.2	-	9	1753	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R185W|FAM189B_uc001fjn.2_Missense_Mutation_p.R287W|FAM189B_uc001fjo.2_Missense_Mutation_p.R365W|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	383						integral to membrane	WW domain binding			ovary(1)|breast(1)	2																		---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155226553	155226553	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155226553T>A	uc001fjs.2	-	8	1062	c.809A>T	c.(808-810)AAG>ATG	p.K270M	RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.K117M|SCAMP3_uc001fju.2_Missense_Mutation_p.K256M|SCAMP3_uc001fjv.2_Missense_Mutation_p.R266W|SCAMP3_uc001fjt.2_Missense_Mutation_p.K244M	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	270					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FDPS	2224	broad.mit.edu	37	1	155289429	155289429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155289429G>A	uc001fkc.2	+	9	1093	c.874G>A	c.(874-876)GCC>ACC	p.A292T	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A226T|FDPS_uc001fke.2_Missense_Mutation_p.A292T|FDPS_uc001fkf.2_Missense_Mutation_p.A226T|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	292					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)													---	---	---	---
C1orf104	284618	broad.mit.edu	37	1	155290616	155290616	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155290616C>A	uc001fki.2	-	2	941	c.664G>T	c.(664-666)GCG>TCG	p.A222S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	222											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155349857	155349857	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155349857G>T	uc009wqq.2	-	8	6649	c.6169C>A	c.(6169-6171)CTT>ATT	p.L2057I	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.L2052I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2057					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449639	155449639	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155449639A>G	uc009wqq.2	-	3	3502	c.3022T>C	c.(3022-3024)TCA>CCA	p.S1008P	ASH1L_uc001fkt.2_Missense_Mutation_p.S1008P|ASH1L_uc009wqr.1_Missense_Mutation_p.S1008P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1008					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450153	155450153	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450153C>T	uc009wqq.2	-	3	2988	c.2508G>A	c.(2506-2508)ATG>ATA	p.M836I	ASH1L_uc001fkt.2_Missense_Mutation_p.M836I|ASH1L_uc009wqr.1_Missense_Mutation_p.M836I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	836					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450980	155450980	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450980T>C	uc009wqq.2	-	3	2161	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	ASH1L_uc001fkt.2_Missense_Mutation_p.T561A|ASH1L_uc009wqr.1_Missense_Mutation_p.T561A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	561					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155451081	155451081	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155451081C>T	uc009wqq.2	-	3	2060	c.1580G>A	c.(1579-1581)TGC>TAC	p.C527Y	ASH1L_uc001fkt.2_Missense_Mutation_p.C527Y|ASH1L_uc009wqr.1_Missense_Mutation_p.C527Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	527					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155721929	155721929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155721929A>T	uc001flz.2	-	30	6392	c.6295T>A	c.(6295-6297)TCA>ACA	p.S2099T	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S2098T|GON4L_uc009wrh.1_Missense_Mutation_p.S2098T|GON4L_uc001fma.1_Missense_Mutation_p.S2099T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2099					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838037	155838037	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155838037C>T	uc001fmg.2	+	2	579	c.316C>T	c.(316-318)CGA>TGA	p.R106*	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)															---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155891401	155891401	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155891401G>T	uc001fmi.1	-	10	1055	c.1031C>A	c.(1030-1032)GCT>GAT	p.A344D	KIAA0907_uc001fmj.1_Missense_Mutation_p.A344D|KIAA0907_uc009wrk.1_Missense_Mutation_p.A201D|KIAA0907_uc009wrl.1_Intron|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Intron	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	344	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)															---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156446831	156446831	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156446831C>A	uc001fpc.2	-	7	1218	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	MEF2D_uc001fpb.2_Missense_Mutation_p.Q276H|MEF2D_uc001fpd.2_Missense_Mutation_p.Q276H|MEF2D_uc001fpe.1_Missense_Mutation_p.Q276H|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	276					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156452228	156452228	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156452228C>T	uc001fpc.2	-	3	648	c.258_splice	c.e3+1	p.E86_splice	MEF2D_uc001fpb.2_Splice_Site_p.E86_splice|MEF2D_uc001fpd.2_Splice_Site_p.E86_splice|MEF2D_uc001fpe.1_Splice_Site_p.E86_splice|MEF2D_uc009wsa.2_Splice_Site	NM_005920	NP_005911			myocyte enhancer factor 2D						apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156498800	156498800	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156498800G>T	uc001fpf.2	-	35	4554	c.4479C>A	c.(4477-4479)GGC>GGA	p.G1493G		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1493					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156500056	156500056	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156500056T>C	uc001fpf.2	-	34	4320	c.4245A>G	c.(4243-4245)ACA>ACG	p.T1415T		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1415					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156518533	156518533	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156518533A>G	uc001fpf.2	-	17	1908	c.1833T>C	c.(1831-1833)CTT>CTC	p.L611L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	611					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156621427	156621427	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156621427G>T	uc001fpp.2	+	7	1579	c.1243G>T	c.(1243-1245)GGA>TGA	p.G415*	BCAN_uc001fpo.2_Nonsense_Mutation_p.G415*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	415	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642735	156642735	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156642735G>T	uc001fpq.2	-	4	1378	c.1245C>A	c.(1243-1245)CTC>CTA	p.L415L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	415	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156697311	156697311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156697311T>C	uc001fps.1	-	1	395	c.134A>G	c.(133-135)AAC>AGC	p.N45S	ISG20L2_uc001fpt.1_Missense_Mutation_p.N45S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	45					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf66	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156703256C>T	uc001fpu.2	+	5	1214	c.580C>T	c.(580-582)CGC>TGC	p.R194C	C1orf66_uc001fpv.2_Missense_Mutation_p.R194C	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	194	Potential.					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156756637	156756637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156756637G>A	uc001fqa.2	+	3	1044	c.754G>A	c.(754-756)GCT>ACT	p.A252T	PRCC_uc001fqb.2_Missense_Mutation_p.A252T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	252					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							T	TFE3	papillary renal 								---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156814013	156814013	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156814013G>A	uc010pht.1	-	15	3051	c.2797C>T	c.(2797-2799)CTG>TTG	p.L933L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	933	Helical; (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf92	149499	broad.mit.edu	37	1	156897405	156897405	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156897405T>G	uc001fqm.2	+	7	952	c.780T>G	c.(778-780)GGT>GGG	p.G260G	C1orf92_uc001fql.2_Silent_p.G45G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	260	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)															OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156914939	156914939	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156914939C>T	uc001fqo.2	-	29	3783	c.2743G>A	c.(2743-2745)GAG>AAG	p.E915K	ARHGEF11_uc010phu.1_Missense_Mutation_p.E331K|ARHGEF11_uc001fqn.2_Missense_Mutation_p.E955K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	915	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156916542	156916542	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156916542G>A	uc001fqo.2	-	27	3526	c.2486C>T	c.(2485-2487)GCT>GTT	p.A829V	ARHGEF11_uc010phu.1_Missense_Mutation_p.A245V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A869V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	829	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156918229	156918229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156941587	156941587	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156941587G>A	uc001fqo.2	-						ARHGEF11_uc001fqn.2_Missense_Mutation_p.R202W	NM_014784	NP_055599			Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488498	157488498	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488498T>A	uc001fqu.2	-	14	2893	c.2735A>T	c.(2734-2736)TAC>TTC	p.Y912F	FCRL5_uc009wsm.2_Missense_Mutation_p.Y912F	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	912	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488576	157488576	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488576T>C	uc001fqu.2	-						FCRL5_uc009wsm.2_Intron	NM_031281	NP_112571			Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157739769	157739769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157739769T>C	uc001fre.2	-	4	541	c.482A>G	c.(481-483)GAG>GGG	p.E161G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E161G|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E161G	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	161	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---
CD1D	912	broad.mit.edu	37	1	158152735	158152735	+	Silent	SNP	T	C	C	rs141805163		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158152735T>C	uc001frr.2	+	5	1174	c.675T>C	c.(673-675)CAT>CAC	p.H225H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	225	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450322	158450322	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158450322A>T	uc010pik.1	+	1	655	c.655A>T	c.(655-657)ATA>TTA	p.I219L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576558	158576558	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576558T>C	uc010pio.1	+	1	330	c.330T>C	c.(328-330)ACT>ACC	p.T110T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576645	158576645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576645C>T	uc010pio.1	+	1	417	c.417C>T	c.(415-417)ACC>ACT	p.T139T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158589953	158589953	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158589953A>C	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158621206	158621206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158621206T>A	uc001fst.1	-	24	3627	c.3428A>T	c.(3427-3429)GAT>GTT	p.D1143V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1143	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158622391	158622391	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158622391G>A	uc001fst.1	-	23	3440	c.3241C>T	c.(3241-3243)CGT>TGT	p.R1081C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1081					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158626356	158626356	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158626356G>T	uc001fst.1	-	20	3095	c.2896C>A	c.(2896-2898)CAG>AAG	p.Q966K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	966	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687118	158687118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687118T>C	uc010pip.1	-	1	836	c.836A>G	c.(835-837)GAC>GGC	p.D279G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687335	158687335	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687335C>G	uc010pip.1	-	1	619	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	207	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158724839	158724839	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158724839G>T	uc001fsw.1	+	1	234	c.234G>T	c.(232-234)CAG>CAT	p.Q78H		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	78	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158986335	158986335	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158986335T>C	uc001ftf.1	+	5	1001	c.394T>C	c.(394-396)TCA>CCA	p.S132P	IFI16_uc001ftg.2_Missense_Mutation_p.S132P|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	132	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683503	159683503	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159683503T>A	uc001ftw.2	-	2	591	c.487A>T	c.(487-489)AAC>TAC	p.N163Y	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	163	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)													---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159778831	159778831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159778831A>G	uc001fud.3	+	4	442	c.400A>G	c.(400-402)ACA>GCA	p.T134A	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.T141A|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.T134A	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	134	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159780016	159780016	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159780016T>A	uc001fud.3	+						FCRL6_uc001fuc.2_Intron|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Intron	NM_001004310	NP_001004310			Fc receptor-like 6 precursor							integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159901373	159901373	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159901373G>T	uc001fur.2	-	12	1581	c.1383C>A	c.(1381-1383)GGC>GGA	p.G461G	IGSF9_uc001fuq.2_Silent_p.G445G|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	461	Ig-like 5.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923322	159923322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923322G>T	uc001fus.2	-	2	285	c.168C>A	c.(166-168)TCC>TCA	p.S56S	SLAMF9_uc009wtd.2_Silent_p.S56S|SLAMF9_uc001fut.2_Silent_p.S56S	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	56	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923879	159923879	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923879C>T	uc001fus.2	-						SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273			SLAM family member 9 isoform 1							integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012208	160012208	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160012208C>T	uc001fuw.1	-	2	265	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	39	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098618	160098618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160098618T>C	uc001fvc.2	+	9	1326	c.1194T>C	c.(1192-1194)GCT>GCC	p.A398A	ATP1A2_uc001fvb.2_Silent_p.A398A|ATP1A2_uc010piz.1_Silent_p.A243A|ATP1A2_uc001fvd.2_Silent_p.A134A|ATP1A2_uc009wtg.1_Silent_p.A86A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	398	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160099949	160099949	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160099949G>A	uc001fvc.2	+	12	1651	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A507T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A243T|ATP1A2_uc009wtg.1_Missense_Mutation_p.A195T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	507	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160164845	160164845	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160164845T>C	uc010pja.1	+	4	766	c.509T>C	c.(508-510)CTG>CCG	p.L170P		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	170						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160187442	160187442	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160187442G>A	uc001fvo.2	-	14	2046	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	DCAF8_uc001fvn.2_Silent_p.S578S|DCAF8_uc009wth.2_Silent_p.S578S|DCAF8_uc010pjb.1_Silent_p.S578S|DCAF8_uc010pjc.1_Silent_p.S732S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2																		---	---	---	---
COPA	1314	broad.mit.edu	37	1	160261161	160261161	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160261161T>C	uc009wti.2	-	31	3778	c.3384A>G	c.(3382-3384)CTA>CTG	p.L1128L	COPA_uc001fvv.3_Silent_p.L1137L	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	1128					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)													OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160264607	160264607	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160264607A>G	uc009wti.2	-	24	2911	c.2517T>C	c.(2515-2517)ACT>ACC	p.T839T	COPA_uc001fvv.3_Silent_p.T848T	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	839					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
COPA	1314	broad.mit.edu	37	1	160268779	160268779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160268779T>C	uc009wti.2	-	19	2227	c.1833A>G	c.(1831-1833)GTA>GTG	p.V611V	COPA_uc001fvv.3_Silent_p.V620V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	611					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160322757	160322757	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160322757T>C	uc001fvx.2	+	9	1201	c.1077T>C	c.(1075-1077)GTT>GTC	p.V359V	NCSTN_uc001fvy.2_Silent_p.V339V|NCSTN_uc010pjf.1_Silent_p.V221V|NCSTN_uc001fvz.2_Silent_p.V139V|NCSTN_uc010pjg.1_Silent_p.V101V	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	359	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160385846	160385846	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160385846C>T	uc001fwb.1	+						VANGL2_uc001fwc.1_Intron	NM_020335	NP_065068			vang-like 2						apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160580589	160580589	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160580589C>A	uc001fwl.3	-						SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028			signaling lymphocytic activation molecule family						interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607140	160607140	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607140C>T	uc001fwl.3	-	2	602	c.256G>A	c.(256-258)GCA>ACA	p.A86T	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.A86T	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	86	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD48	962	broad.mit.edu	37	1	160654897	160654897	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160654897T>C	uc001fwn.2	-	2	197	c.165A>G	c.(163-165)CAA>CAG	p.Q55Q	CD48_uc001fwo.1_Silent_p.Q55Q|CD48_uc001fwp.2_Silent_p.Q55Q	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	55	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
SLAMF7	57823	broad.mit.edu	37	1	160718142	160718142	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160718142G>T	uc001fwq.2	+	2	229	c.214G>T	c.(214-216)GTG>TTG	p.V72L	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.V72L|SLAMF7_uc010pjo.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	72	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
ITLN1	55600	broad.mit.edu	37	1	160850383	160850383	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160850383C>T	uc001fxc.2	-	6	796	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	227	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)															---	---	---	---
USF1	7391	broad.mit.edu	37	1	161009746	161009746	+	Silent	SNP	G	A	A	rs146372368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161009746G>A	uc001fxi.2	-	11	1092	c.897C>T	c.(895-897)CAC>CAT	p.H299H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.H240H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	299					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
PPOX	5498	broad.mit.edu	37	1	161137170	161137170	+	Missense_Mutation	SNP	C	T	T	rs78028107		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161137170C>T	uc001fyj.2	+	4	522	c.232C>T	c.(232-234)CTT>TTT	p.L78F	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L78F|PPOX_uc001fyl.2_Missense_Mutation_p.L44F|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	78					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											Porphyria_Variegata				---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161201198	161201198	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161201198T>C	uc001fzx.2	-	6	818	c.615A>G	c.(613-615)GTA>GTG	p.V205V	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.V205V|NR1I3_uc001fzg.2_Silent_p.V176V|NR1I3_uc001fzh.2_Silent_p.V176V|NR1I3_uc001fzi.2_Silent_p.V176V|NR1I3_uc001fzj.2_Silent_p.V176V|NR1I3_uc001fzk.2_Silent_p.V176V|NR1I3_uc001fzl.2_Silent_p.V176V|NR1I3_uc001fzm.2_Silent_p.V130V|NR1I3_uc001fzn.2_Silent_p.V38V|NR1I3_uc009wug.2_Silent_p.V38V|NR1I3_uc001fzp.2_Silent_p.V205V|NR1I3_uc001fzo.2_Silent_p.V38V|NR1I3_uc001fzq.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzr.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzs.2_Silent_p.V38V|NR1I3_uc001fzt.2_Silent_p.V38V|NR1I3_uc001fzu.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzv.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzw.2_Silent_p.V205V|NR1I3_uc001fzy.2_Silent_p.V205V|NR1I3_uc001fzz.2_Silent_p.V205V|NR1I3_uc001gaa.2_Silent_p.V205V|NR1I3_uc001gab.2_Silent_p.V205V|NR1I3_uc001gac.2_Silent_p.V176V|NR1I3_uc010pkm.1_Silent_p.V176V|NR1I3_uc010pkn.1_Silent_p.V205V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	205					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161203072	161203072	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161203072C>T	uc001fzx.2	-	4	498	c.295G>A	c.(295-297)GCA>ACA	p.A99T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A99T|NR1I3_uc001fzg.2_Missense_Mutation_p.A70T|NR1I3_uc001fzh.2_Missense_Mutation_p.A70T|NR1I3_uc001fzi.2_Missense_Mutation_p.A70T|NR1I3_uc001fzj.2_Missense_Mutation_p.A70T|NR1I3_uc001fzk.2_Missense_Mutation_p.A70T|NR1I3_uc001fzl.2_Missense_Mutation_p.A70T|NR1I3_uc001fzm.2_Missense_Mutation_p.A24T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A99T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A99T|NR1I3_uc001fzy.2_Missense_Mutation_p.A99T|NR1I3_uc001fzz.2_Missense_Mutation_p.A99T|NR1I3_uc001gaa.2_Missense_Mutation_p.A99T|NR1I3_uc001gab.2_Missense_Mutation_p.A99T|NR1I3_uc001gac.2_Missense_Mutation_p.A70T|NR1I3_uc010pkm.1_Missense_Mutation_p.A70T|NR1I3_uc010pkn.1_Missense_Mutation_p.A99T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161284191	161284191	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161284191C>A	uc001gag.2	+	1					SDHC_uc001gai.2_5'UTR|SDHC_uc001gaj.2_5'UTR|SDHC_uc001gak.2_5'UTR|SDHC_uc001gah.2_5'Flank	NM_003001	NP_002992			succinate dehydrogenase complex, subunit C						respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495350	161495350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495350G>A	uc001gap.2	+	2	1562	c.902G>A	c.(901-903)CGT>CAT	p.R301H	HSPA6_uc001gaq.2_Missense_Mutation_p.R301H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	301					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495882	161495882	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495882G>A	uc001gap.2	+	2	2094	c.1434G>A	c.(1432-1434)GTG>GTA	p.V478V	HSPA6_uc001gaq.2_Silent_p.V478V	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	478					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
FCGR3B	2215	broad.mit.edu	37	1	161599765	161599765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161599765T>C	uc009wul.2	-	3	396	c.122A>G	c.(121-123)GAC>GGC	p.D41G		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	41	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161697222	161697222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161697222C>T	uc001gbh.2	+	8	1285	c.1051C>T	c.(1051-1053)CCA>TCA	p.P351S	FCRLB_uc009wus.2_Missense_Mutation_p.P351S|FCRLB_uc001gbj.2_Silent_p.G302G|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.G295G|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.P351S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	351						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)															---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161789480	161789480	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161789480T>A	uc001gbr.2	+	8	1034	c.967T>A	c.(967-969)TCT>ACT	p.S323T	ATF6_uc001gbq.1_Missense_Mutation_p.S323T	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	323	Basic motif.|Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)															---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161954054	161954054	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161954054T>A	uc001gbu.2	-	8	2088	c.1664A>T	c.(1663-1665)AAT>ATT	p.N555I	OLFML2B_uc001gbt.2_Missense_Mutation_p.N38I|OLFML2B_uc010pkq.1_Missense_Mutation_p.N556I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	555	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162313640	162313640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162313640A>G	uc001gbv.2	+	6	856	c.469A>G	c.(469-471)ATC>GTC	p.I157V	NOS1AP_uc010pkr.1_Missense_Mutation_p.I152V|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.I152V	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	157	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)															---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162469877	162469877	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162469877T>C	uc001gcc.1	+	2	537	c.401T>C	c.(400-402)ATG>ACG	p.M134T	UHMK1_uc001gcb.1_Missense_Mutation_p.M60T|UHMK1_uc009wuu.1_Missense_Mutation_p.M134T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	134	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)															---	---	---	---
HSD17B7	51478	broad.mit.edu	37	1	162766377	162766377	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162766377T>G	uc001gci.2	+	3	337	c.242T>G	c.(241-243)TTT>TGT	p.F81C	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	81	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)													---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163117247	163117247	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:163117247A>C	uc001gcn.2	-	5	678	c.431T>G	c.(430-432)GTG>GGG	p.V144G	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	144	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)															---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818552	166818552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818552G>A	uc001gdt.1	+	5	856	c.736G>A	c.(736-738)GCC>ACC	p.A246T	POGK_uc010ple.1_Missense_Mutation_p.A161T|POGK_uc010plf.1_Missense_Mutation_p.A128T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	246					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818591	166818591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818591T>C	uc001gdt.1	+	5	895	c.775T>C	c.(775-777)TTT>CTT	p.F259L	POGK_uc010ple.1_Missense_Mutation_p.F174L|POGK_uc010plf.1_Missense_Mutation_p.F141L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	259	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166962057	166962057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166962057T>C	uc001gdy.1	+	4	531	c.460T>C	c.(460-462)TTC>CTC	p.F154L	MAEL_uc001gdz.1_Missense_Mutation_p.F123L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	154					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167844425	167844425	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167844425C>A	uc001ger.2	-	13	1705	c.1407_splice	c.e13-1	p.V469_splice	ADCY10_uc009wvk.2_Splice_Site_p.V377_splice|ADCY10_uc010plj.1_Splice_Site_p.V316_splice|ADCY10_uc009wvl.2_Splice_Site_p.V468_splice	NM_018417	NP_060887			adenylate cyclase 10						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168250426	168250426	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168250426A>C	uc001gfl.2	+	1	149	c.98A>C	c.(97-99)AAA>ACA	p.K33T	TBX19_uc001gfj.3_Intron	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	33					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168278029	168278029	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168278029T>C	uc001gfl.2	+	7	1017	c.966T>C	c.(964-966)CCT>CCC	p.P322P	TBX19_uc001gfj.3_Silent_p.P190P|TBX19_uc001gfm.2_Silent_p.P25P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	322					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
C1orf114	57821	broad.mit.edu	37	1	169366587	169366587	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169366587T>A	uc001gga.1	-	5	1426	c.1258A>T	c.(1258-1260)AAA>TAA	p.K420*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.K419*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.K419*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	420											0	all_hematologic(923;0.208)																	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169435124	169435124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169435124T>C	uc001gge.3	-	6	1661	c.1457A>G	c.(1456-1458)GAA>GGA	p.E486G	SLC19A2_uc001ggf.3_Missense_Mutation_p.E285G	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	486	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)																	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510886	169510886	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510886A>T	uc001ggg.1	-	13	3587	c.3442T>A	c.(3442-3444)TCC>ACC	p.S1148T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1148	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
F5	2153	broad.mit.edu	37	1	169519212	169519212	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169519212T>G	uc001ggg.1	-	10	1583	c.1438A>C	c.(1438-1440)ACC>CCC	p.T480P	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	480	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
SELE	6401	broad.mit.edu	37	1	169702011	169702011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169702011T>C	uc001ggm.3	-	3	323	c.166A>G	c.(166-168)ATT>GTT	p.I56V	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	56	Extracellular (Potential).|C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169845114	169845114	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169845114C>T	uc001ggs.2	-						SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607			SCY1-like 3 isoform 2						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169847941	169847941	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169847941T>A	uc001ggs.2	-	3	383	c.185A>T	c.(184-186)CAC>CTC	p.H62L	SCYL3_uc001ggt.2_Missense_Mutation_p.H62L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	62	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170003615	170003615	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170003615T>C	uc001ggv.2	-	7	911	c.640A>G	c.(640-642)ATT>GTT	p.I214V	KIFAP3_uc010ply.1_Missense_Mutation_p.I136V|KIFAP3_uc001ggw.1_Missense_Mutation_p.I170V	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	214					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171244546	171244546	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171244546T>C	uc009wvz.2	+	4	519	c.383T>C	c.(382-384)GTC>GCC	p.V128A	FMO1_uc010pme.1_Missense_Mutation_p.V65A|FMO1_uc001ghl.2_Missense_Mutation_p.V128A|FMO1_uc001ghm.2_Missense_Mutation_p.V128A|FMO1_uc001ghn.2_Missense_Mutation_p.V128A	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	128					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171535990	171535990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171535990A>G	uc010pmg.1	+						BAT2L2_uc010pmh.1_Intron|BAT2L2_uc010pmi.1_Intron	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
VAMP4	8674	broad.mit.edu	37	1	171707551	171707551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171707551G>A	uc001ghx.1	-	2	218	c.4C>T	c.(4-6)CCT>TCT	p.P2S	VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.P2S	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	2	Cytoplasmic (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753267	171753267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171753267G>A	uc001ghz.2	+	2	888	c.541G>A	c.(541-543)GTG>ATG	p.V181M	METTL13_uc001gia.2_Missense_Mutation_p.V95M|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.V180M	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	181							methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171761377	171761377	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171761377T>C	uc001ghz.2	+	6	2040	c.1693_splice	c.e6+2	p.A565_splice	METTL13_uc001gia.2_Splice_Site_p.A479_splice|METTL13_uc001gib.2_Splice_Site_p.A409_splice|METTL13_uc010pml.1_Splice_Site_p.A564_splice|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019			CGI-01 protein isoform 1								methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172357785	172357785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172357785C>T	uc001gie.2	+	20	2534	c.2358C>T	c.(2356-2358)GGC>GGT	p.G786G	DNM3_uc001gif.2_Silent_p.G782G|DNM3_uc001gih.1_Silent_p.G142G	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	792					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---
PIGC	5279	broad.mit.edu	37	1	172411759	172411759	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172411759A>G	uc001gil.2	-	2	285	c.4T>C	c.(4-6)TAT>CAT	p.Y2H	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.Y2H|PIGC_uc001gio.2_Missense_Mutation_p.Y2H	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	2					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
FASLG	356	broad.mit.edu	37	1	172635150	172635150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172635150G>A	uc001gis.2	+	4	997	c.840G>A	c.(838-840)AAG>AAA	p.K280K	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	280	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3																		---	---	---	---
TNFSF4	7292	broad.mit.edu	37	1	173157719	173157719	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173157719A>G	uc001giw.2	-						TNFSF4_uc001giv.2_Intron	NM_003326	NP_003317			tumor necrosis factor (ligand) superfamily,						acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1																		---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173456932	173456932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173456932T>A	uc001giy.1	+	5	656	c.605T>A	c.(604-606)TTC>TAC	p.F202Y		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	202					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173516834	173516834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173516834T>C	uc001giz.2	-	13	1974	c.1551A>G	c.(1549-1551)ATA>ATG	p.I517M	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75M|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173523865	173523865	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173523865A>G	uc001giz.2	-						SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622			solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
CENPL	91687	broad.mit.edu	37	1	173780280	173780280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173780280G>A	uc001gje.3	-	2	372	c.158C>T	c.(157-159)TCG>TTG	p.S53L	CENPL_uc009wwg.2_5'UTR|CENPL_uc001gjg.3_Missense_Mutation_p.S53L|CENPL_uc001gjf.3_Missense_Mutation_p.S53L	NM_033319	NP_201576	Q8N0S6	CENPL_HUMAN	centromere protein L isoform 2	53					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0																		---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173934070	173934070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173934070A>G	uc001gju.3	-	9	1610	c.1523T>C	c.(1522-1524)ATT>ACT	p.I508T	RC3H1_uc010pms.1_Missense_Mutation_p.I508T|RC3H1_uc001gjv.2_Missense_Mutation_p.I508T|RC3H1_uc010pmt.1_Missense_Mutation_p.I508T	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	508					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174221683	174221683	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174221683T>C	uc001gjx.2	+	7	1136	c.941T>C	c.(940-942)GTG>GCG	p.V314A	RABGAP1L_uc009wwq.1_Missense_Mutation_p.V326A|RABGAP1L_uc001gjw.2_Missense_Mutation_p.V277A|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	314					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417491	174417491	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174417491A>T	uc001gka.1	+	1	280	c.242A>T	c.(241-243)CAG>CTG	p.Q81L	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	81	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671273	174671273	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671273G>A	uc001gjx.2	+	17	2243	c.2048G>A	c.(2047-2049)AGC>AAC	p.S683N	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Missense_Mutation_p.S9N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	683	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671283	174671283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671283T>C	uc001gjx.2	+	17	2253	c.2058T>C	c.(2056-2058)TCT>TCC	p.S686S	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Silent_p.S12S	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	686	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335099	175335099	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175335099A>T	uc001gkp.1	-	9	2310	c.2229T>A	c.(2227-2229)GAT>GAA	p.D743E	TNR_uc009wwu.1_Missense_Mutation_p.D743E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	743	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372423	175372423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372423C>T	uc001gkp.1	-	2	910	c.829G>A	c.(829-831)GCC>ACC	p.A277T	TNR_uc009wwu.1_Missense_Mutation_p.A277T|TNR_uc010pmz.1_Missense_Mutation_p.A277T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	277	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372644	175372644	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372644T>C	uc001gkp.1	-	2	689	c.608A>G	c.(607-609)TAC>TGC	p.Y203C	TNR_uc009wwu.1_Missense_Mutation_p.Y203C|TNR_uc010pmz.1_Missense_Mutation_p.Y203C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	203	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525547	176525547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176525547G>A	uc001gkz.2	+	2	1253	c.89G>A	c.(88-90)CGC>CAC	p.R30H	PAPPA2_uc001gky.1_Missense_Mutation_p.R30H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	30					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679181	176679181	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679181A>C	uc001gkz.2	+	11	4684	c.3520A>C	c.(3520-3522)ACC>CCC	p.T1174P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1174					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679281	176679281	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679281T>A	uc001gkz.2	+	11	4784	c.3620T>A	c.(3619-3621)GTT>GAT	p.V1207D	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838049	176838049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176838049T>C	uc001glc.2	-	22	3790	c.3578A>G	c.(3577-3579)TAC>TGC	p.Y1193C	ASTN1_uc001glb.1_Missense_Mutation_p.Y1193C|ASTN1_uc001gld.1_Missense_Mutation_p.Y1193C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1201					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176853605	176853605	+	Silent	SNP	G	A	A	rs144434019		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176853605G>A	uc001glc.2	-	19	3308	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ASTN1_uc001glb.1_Silent_p.H1032H|ASTN1_uc001gld.1_Silent_p.H1032H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1040	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
FAM5B	57795	broad.mit.edu	37	1	177250429	177250429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177250429A>G	uc001glf.2	+	8	2429	c.2117A>G	c.(2116-2118)TAC>TGC	p.Y706C	FAM5B_uc001glg.2_Missense_Mutation_p.Y601C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	706						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178252710	178252710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178252710C>T	uc001glq.2	+	2	978	c.214C>T	c.(214-216)CCA>TCA	p.P72S	RASAL2_uc009wxb.2_Missense_Mutation_p.P72S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5																		---	---	---	---
C1orf125	126859	broad.mit.edu	37	1	179363085	179363085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179363085A>G	uc001gmo.2	+	10	1038	c.911A>G	c.(910-912)GAT>GGT	p.D304G	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.D92G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D304G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	304											0																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179983259	179983259	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179983259A>G	uc001gnt.2	+	10	2054	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CEP350_uc009wxl.2_Silent_p.S556S|CEP350_uc001gnu.2_Silent_p.S391S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	557						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180000515	180000515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180000515G>A	uc001gnt.2	+	15	3994	c.3611G>A	c.(3610-3612)CGT>CAT	p.R1204H	CEP350_uc009wxl.2_Missense_Mutation_p.R1203H|CEP350_uc001gnu.2_Missense_Mutation_p.R1037H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1204	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180064877	180064877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180064877G>A	uc001gnt.2	+	35	9114	c.8731G>A	c.(8731-8733)GAA>AAA	p.E2911K	CEP350_uc009wxl.2_Missense_Mutation_p.E2910K|CEP350_uc001gnv.2_Missense_Mutation_p.E1046K|CEP350_uc001gnw.1_Missense_Mutation_p.E668K|CEP350_uc001gnx.1_Missense_Mutation_p.E668K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2911						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243369	180243369	+	Silent	SNP	C	T	T	rs139155359		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243369C>T	uc001goe.1	+	6	1051	c.828C>T	c.(826-828)AAC>AAT	p.N276N	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243511	180243511	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243511G>A	uc001goe.1	+	6	1193	c.970G>A	c.(970-972)GCT>ACT	p.A324T	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180399357	180399357	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180399357C>T	uc001gog.2	-	4	1046	c.425G>A	c.(424-426)GGT>GAT	p.G142D		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	142						cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
STX6	10228	broad.mit.edu	37	1	180953816	180953816	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180953816T>A	uc010pnq.1	-	7	925	c.688A>T	c.(688-690)AGT>TGT	p.S230C	STX6_uc001goo.2_Missense_Mutation_p.S230C|STX6_uc010pnr.1_Missense_Mutation_p.S129C	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	230	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1																		---	---	---	---
MR1	3140	broad.mit.edu	37	1	181022773	181022773	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181022773G>T	uc001goq.1	+	5	950	c.945G>T	c.(943-945)CTG>CTT	p.L315L	MR1_uc001gor.1_Silent_p.L270L|MR1_uc001gos.1_Silent_p.L223L|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	315	Helical; (Potential).			L -> P (in Ref. 4; BAD96630).	antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1																		---	---	---	---
IER5	51278	broad.mit.edu	37	1	181059004	181059004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181059004A>G	uc001got.3	+	1	1367	c.966A>G	c.(964-966)ACA>ACG	p.T322T		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	322										pancreas(1)	1																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181708397	181708397	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181708397A>G	uc001gow.2	+						CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_Intron|CACNA1E_uc009wxt.2_Intron	NM_000721	NP_000712			calcium channel, voltage-dependent, R type,						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181764126	181764126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181764126C>T	uc001gow.2	+	45	6190	c.6025C>T	c.(6025-6027)CGG>TGG	p.R2009W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1897W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1278W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2052	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182355457	182355457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182355457A>G	uc001gpa.1	-	4	621	c.409T>C	c.(409-411)TAT>CAT	p.Y137H	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.Y137H|GLUL_uc001gpc.1_Missense_Mutation_p.Y137H|GLUL_uc001gpd.1_Missense_Mutation_p.Y137H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	137					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)													---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550471	182550471	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182550471A>G	uc001gpj.1	-	4	1961	c.1794T>C	c.(1792-1794)AAT>AAC	p.N598N	RNASEL_uc009wxz.1_Silent_p.N598N|RNASEL_uc001gpk.2_Silent_p.N598N	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	598	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5														Hereditary_Prostate_Cancer				---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182856359	182856359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182856359C>T	uc001gpr.2	+	28	3766	c.3603C>T	c.(3601-3603)GGC>GGT	p.G1201G	DHX9_uc001gps.2_Silent_p.G987G|DHX9_uc001gpt.2_Silent_p.G480G|DHX9_uc009wyd.2_Silent_p.G166G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1201	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2																		---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183086546	183086546	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183086546C>T	uc001gpy.3	+	9	1913	c.1656C>T	c.(1654-1656)GAC>GAT	p.D552D		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	552	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183208692	183208692	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183208692T>C	uc001gqa.2	+	20	3377	c.3063T>C	c.(3061-3063)ATT>ATC	p.I1021I	LAMC2_uc001gpz.3_Silent_p.I1021I|LAMC2_uc010poa.1_Silent_p.I721I	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1021	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183506324	183506324	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183506324A>C	uc001gqg.2	+	11	1330	c.1208A>C	c.(1207-1209)CAT>CCT	p.H403P	SMG7_uc010pob.1_Missense_Mutation_p.H432P|SMG7_uc001gqf.2_Missense_Mutation_p.H403P|SMG7_uc001gqh.2_Missense_Mutation_p.H403P|SMG7_uc001gqi.2_Missense_Mutation_p.H361P|SMG7_uc010poc.1_Missense_Mutation_p.H361P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	403					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GLT25D2	23127	broad.mit.edu	37	1	183944246	183944246	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183944246C>A	uc001gqr.2	-	3	849	c.477G>T	c.(475-477)TGG>TGT	p.W159C	GLT25D2_uc010poj.1_Missense_Mutation_p.W159C|GLT25D2_uc001gqs.2_Missense_Mutation_p.W39C	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184663337	184663337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184663337G>A	uc010pok.1	-	20	2920	c.2659C>T	c.(2659-2661)CTT>TTT	p.L887F	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L903F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	887					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764990	184764990	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184764990T>C	uc001gra.2	-	14	2102	c.1908A>G	c.(1906-1908)AAA>AAG	p.K636K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	636					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184765096	184765096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184765096G>T	uc001gra.2	-	14	1996	c.1802C>A	c.(1801-1803)GCT>GAT	p.A601D	FAM129A_uc001grb.1_Missense_Mutation_p.A364D	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	601					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
C1orf25	81627	broad.mit.edu	37	1	185089303	185089303	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185089303A>T	uc001grf.3	-	15	2322	c.2050T>A	c.(2050-2052)TTT>ATT	p.F684I	C1orf25_uc010pon.1_Missense_Mutation_p.F528I	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	684						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0																		---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185276772	185276772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185276772G>T	uc001grl.2	-	6	1003	c.380C>A	c.(379-381)TCT>TAT	p.S127Y	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	127					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185970779	185970779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185970779C>A	uc001grq.1	+	28	4483	c.4254C>A	c.(4252-4254)CTC>CTA	p.L1418L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1418	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186055437	186055437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186055437A>G	uc001grq.1	+	58	9173	c.8944A>G	c.(8944-8946)ATC>GTC	p.I2982V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2982	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186114613	186114613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186114613G>A	uc001grq.1	+	92	14574	c.14345G>A	c.(14344-14346)CGC>CAC	p.R4782H	HMCN1_uc001grs.1_Missense_Mutation_p.R351H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4782	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186121905	186121905	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186121905A>G	uc001grq.1	+	96	15149	c.14920A>G	c.(14920-14922)ATT>GTT	p.I4974V	HMCN1_uc001grs.1_Missense_Mutation_p.I543V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4974	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147639	186147639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147639A>G	uc001grq.1	+	104	16264	c.16035A>G	c.(16033-16035)CAA>CAG	p.Q5345Q	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5345	EGF-like 6; calcium-binding (Potential).		Q -> R (in ARMD1).		response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147733	186147733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147733C>T	uc001grq.1	+	104	16358	c.16129C>T	c.(16129-16131)CCT>TCT	p.P5377S	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5377					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186151335	186151335	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186151335C>T	uc001grq.1	+	105	16559	c.16330C>T	c.(16330-16332)CAT>TAT	p.H5444Y	HMCN1_uc001grs.1_Missense_Mutation_p.H896Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5444	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186157083	186157083	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186157083A>C	uc001grq.1	+	106	16712	c.16483A>C	c.(16483-16485)AGC>CGC	p.S5495R	HMCN1_uc001grs.1_Missense_Mutation_p.S947R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5495					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186283791	186283791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186283791C>T	uc001grv.2	-	50	7303	c.7006G>A	c.(7006-7008)GTC>ATC	p.V2336I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2336					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186287715	186287715	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186287715T>C	uc001grv.2	-	48	6982	c.6685A>G	c.(6685-6687)ACC>GCC	p.T2229A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2229					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186291522	186291522	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186291522T>G	uc001grv.2	-	45	6686	c.6389A>C	c.(6388-6390)GAA>GCA	p.E2130A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2130					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186292976	186292976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186292976A>T	uc001grv.2	-	43	6436	c.6139T>A	c.(6139-6141)TCT>ACT	p.S2047T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2047					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186302287	186302287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186302287G>A	uc001grv.2	-	37	5719	c.5422C>T	c.(5422-5424)CGG>TGG	p.R1808W		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1808					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186304584	186304584	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186304584A>G	uc001grv.2	-	34	5094	c.4797T>C	c.(4795-4797)ATT>ATC	p.I1599I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1599	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186315342	186315342	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186315342C>A	uc001grv.2	-	23	3318	c.3021G>T	c.(3019-3021)AAG>AAT	p.K1007N		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1007	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186316487	186316487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186316487G>A	uc001grv.2	-	22	3177	c.2880C>T	c.(2878-2880)AGC>AGT	p.S960S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	960	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
C1orf27	54953	broad.mit.edu	37	1	186386684	186386684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186386684A>G	uc001grw.2	+	14	1431	c.1195A>G	c.(1195-1197)AGT>GGT	p.S399G	C1orf27_uc010poq.1_Missense_Mutation_p.S376G|C1orf27_uc010por.1_Missense_Mutation_p.S367G	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	399						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186915760	186915760	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186915760T>A	uc001gsc.2	+						PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734			cytosolic phospholipase A2, group IVA						phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186919835	186919835	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186919835T>C	uc001gsc.2	+	13	1516	c.1311T>C	c.(1309-1311)AGT>AGC	p.S437S	PLA2G4A_uc010pos.1_Silent_p.S377S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	437	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190067601	190067601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190067601G>A	uc001gse.1	-	8	2080	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	FAM5C_uc010pot.1_Silent_p.N514N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	616						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190129803	190129803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190129803T>C	uc001gse.1	-	7	1411	c.1179A>G	c.(1177-1179)AGA>AGG	p.R393R	FAM5C_uc010pot.1_Silent_p.R291R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	393						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190130020	190130020	+	Missense_Mutation	SNP	T	C	C	rs112829253		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190130020T>C	uc001gse.1	-	7	1194	c.962A>G	c.(961-963)GAT>GGT	p.D321G	FAM5C_uc010pot.1_Missense_Mutation_p.D219G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	321						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038252	193038252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193038252A>G	uc001gss.2	+	2	243	c.68A>G	c.(67-69)TAT>TGT	p.Y23C	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.Y23C|TROVE2_uc001gsw.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyp.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyq.2_Missense_Mutation_p.Y23C|TROVE2_uc001gsx.1_Missense_Mutation_p.Y23C	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	23	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0																		---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193094253	193094253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193094253A>G	uc001gtb.2	+	2	386	c.143A>G	c.(142-144)GAA>GGA	p.E48G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	48					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E48*(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49														Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196458960	196458960	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196458960T>A	uc001gtd.1	-						KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Intron|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905			potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196883700	196883700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196883700T>C	uc001gto.2	+	4	584	c.515T>C	c.(514-516)TTG>TCG	p.L172S	CFHR4_uc009wyy.2_Missense_Mutation_p.L418S|CFHR4_uc001gtp.2_Missense_Mutation_p.L419S	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	172	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197071893	197071893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197071893T>C	uc001gtu.2	-	18	6745	c.6488A>G	c.(6487-6489)TAC>TGC	p.Y2163C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2163					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197093357	197093357	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197093357A>G	uc001gtu.2	-	13	3530	c.3273T>C	c.(3271-3273)GAT>GAC	p.D1091D	ASPM_uc001gtv.2_Silent_p.D1091D|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1091					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197094055	197094055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197094055T>C	uc001gtu.2	-	12	3370	c.3113A>G	c.(3112-3114)GAT>GGT	p.D1038G	ASPM_uc001gtv.2_Missense_Mutation_p.D1038G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1038	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197097627	197097627	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197097627G>A	uc001gtu.2	-	10	3186	c.2929C>T	c.(2929-2931)CGC>TGC	p.R977C	ASPM_uc001gtv.2_Missense_Mutation_p.R977C|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	977	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197099091	197099091	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197099091T>C	uc001gtu.2	-	8	2840	c.2583A>G	c.(2581-2583)ATA>ATG	p.I861M	ASPM_uc001gtv.2_Missense_Mutation_p.I861M|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	861					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197111869	197111869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197111869T>C	uc001gtu.2	-	3	1770	c.1513A>G	c.(1513-1515)ACC>GCC	p.T505A	ASPM_uc001gtv.2_Missense_Mutation_p.T505A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	505					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197298145	197298145	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197298145C>T	uc001gtz.2	+						CRB1_uc010poz.1_Intron|CRB1_uc001gty.1_Intron|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Intron	NM_201253	NP_957705			crumbs homolog 1 precursor						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390140	197390140	+	Silent	SNP	C	T	T	rs115352681	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197390140C>T	uc001gtz.2	+	6	1317	c.1182C>T	c.(1180-1182)TGC>TGT	p.C394C	CRB1_uc010poz.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C282C|CRB1_uc010ppb.1_Silent_p.C394C|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.C43C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	394	Extracellular (Potential).|EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889141	197889141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889141G>A	uc001guk.1	+	2	651	c.214G>A	c.(214-216)GCC>ACC	p.A72T	LHX9_uc001gui.1_Missense_Mutation_p.A63T|LHX9_uc001guj.1_Missense_Mutation_p.A78T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	72	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889164	197889164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889164G>A	uc001guk.1	+	2	674	c.237G>A	c.(235-237)TCG>TCA	p.S79S	LHX9_uc001gui.1_Silent_p.S70S|LHX9_uc001guj.1_Silent_p.S85S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	79	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198288607	198288607	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198288607T>G	uc001gun.3	+	10	1191	c.864T>G	c.(862-864)GTT>GTG	p.V288V		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	288	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711080	198711080	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711080A>G	uc001gur.1	+	24	2660	c.2480A>G	c.(2479-2481)CAC>CGC	p.H827R	PTPRC_uc001gus.1_Missense_Mutation_p.H779R|PTPRC_uc001gut.1_Missense_Mutation_p.H666R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	827	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711111	198711111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711111T>C	uc001gur.1	+	24	2691	c.2511T>C	c.(2509-2511)AAT>AAC	p.N837N	PTPRC_uc001gus.1_Silent_p.N789N|PTPRC_uc001gut.1_Silent_p.N676N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	837	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200539049	200539049	+	Silent	SNP	T	A	A	rs150400242	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200539049T>A	uc010ppk.1	-	23	4090	c.3651A>T	c.(3649-3651)TCA>TCT	p.S1217S	KIF14_uc010ppj.1_Silent_p.S726S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1217	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200558367	200558367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200558367A>G	uc010ppk.1	-	18	3531	c.3092T>C	c.(3091-3093)ATG>ACG	p.M1031T	KIF14_uc010ppj.1_Missense_Mutation_p.M540T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1031	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880842	200880842	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200880842C>T	uc001gvo.2	+	9	1506	c.1476C>T	c.(1474-1476)CGC>CGT	p.R492R	C1orf106_uc010ppm.1_Silent_p.R407R	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	492										skin(2)|ovary(1)	3																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200968470	200968470	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200968470C>A	uc001gvs.1	-						KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron	NM_017596	NP_060066			kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200974805	200974805	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200974805G>T	uc001gvs.1	-	4	782	c.465C>A	c.(463-465)ATC>ATA	p.I155I	KIF21B_uc001gvr.1_Silent_p.I155I|KIF21B_uc009wzl.1_Silent_p.I155I|KIF21B_uc010ppn.1_Silent_p.I155I|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	155	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201036004	201036004	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201036004C>T	uc001gvv.2	-							NM_000069	NP_000060			calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201618328	201618328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201618328C>T	uc001gwu.2	+	1	879	c.532C>T	c.(532-534)CCC>TCC	p.P178S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	178					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843974	201843974	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201843974A>G	uc001gwz.2	+	22	2898	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	950					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201982112	201982112	+	Silent	SNP	C	T	T	rs148651345		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201982112C>T	uc001gxg.3	+	5	3828	c.636C>T	c.(634-636)TCC>TCT	p.S212S	ELF3_uc001gxi.3_Silent_p.S212S|ELF3_uc001gxh.3_Silent_p.S212S	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	212					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0																		---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097334	202097334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202097334G>A	uc001gxj.2	+	2	1159	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	366	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202287192	202287192	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202287192C>G	uc001gxu.2	+	18	1761	c.1761C>G	c.(1759-1761)TTC>TTG	p.F587L	LGR6_uc001gxv.2_Missense_Mutation_p.F535L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.F448L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	587	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10																		---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202396208	202396208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202396208T>A	uc001gya.1	+	5	886	c.742T>A	c.(742-744)TAT>AAT	p.Y248N	PPP1R12B_uc001gxy.2_Missense_Mutation_p.Y248N|PPP1R12B_uc009xad.1_Missense_Mutation_p.Y54N|PPP1R12B_uc009xae.1_Missense_Mutation_p.Y248N|PPP1R12B_uc001gxz.1_Missense_Mutation_p.Y248N	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	248					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202398034	202398034	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202398034T>C	uc001gya.1	+	6	1042	c.898T>C	c.(898-900)TTG>CTG	p.L300L	PPP1R12B_uc001gxy.2_Silent_p.L300L|PPP1R12B_uc009xad.1_Silent_p.L106L|PPP1R12B_uc009xae.1_Silent_p.L300L|PPP1R12B_uc001gxz.1_Silent_p.L300L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	300					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464568	202464568	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464568A>T	uc001gya.1	+	16	2437	c.2293A>T	c.(2293-2295)ACT>TCT	p.T765S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T765S|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	765					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464749	202464749	+	Missense_Mutation	SNP	G	A	A	rs3817221		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464749G>A	uc001gya.1	+	17	2531	c.2387G>A	c.(2386-2388)CGA>CAA	p.R796Q	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R796Q|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R22Q|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R22Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	796					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202880340	202880340	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202880340G>A	uc001gyo.1	-						KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Intron|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646			kelch-like 12						Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
MYBPH	4608	broad.mit.edu	37	1	203139459	203139459	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203139459C>T	uc001gzh.1	-	7	1112	c.1053G>A	c.(1051-1053)TCG>TCA	p.S351S	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	351	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)														---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203186215	203186215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203186215T>G	uc001gzn.2	-	11	1299	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.K163N|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.K392N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	401					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203468795	203468795	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203468795A>T	uc001gzu.1	+	5	664	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	183	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203698783	203698783	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203698783C>T	uc001gzw.2	+						ATP2B4_uc001gzv.2_Intron|ATP2B4_uc009xaq.2_Intron|ATP2B4_uc001gzx.2_Intron|ATP2B4_uc009xar.2_Intron|SNORA77_uc001gzy.1_RNA	NM_001684	NP_001675			plasma membrane calcium ATPase 4 isoform 4b						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203820223	203820223	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203820223T>C	uc001hac.2	+	19	2761	c.2145T>C	c.(2143-2145)ACT>ACC	p.T715T	ZC3H11A_uc001had.2_Silent_p.T715T|ZC3H11A_uc001hae.2_Silent_p.T715T|ZC3H11A_uc001haf.2_Silent_p.T715T|ZC3H11A_uc010pqm.1_Silent_p.T661T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	715							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204083710	204083710	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204083710C>A	uc001ham.2	+	4	990	c.395C>A	c.(394-396)TCT>TAT	p.S132Y	SOX13_uc001hal.2_Missense_Mutation_p.S132Y|SOX13_uc010pqp.1_Missense_Mutation_p.S132Y|SOX13_uc010pqq.1_5'Flank	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	132					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204115797G>A	uc001hao.3	-	3	941	c.614C>T	c.(613-615)ACG>ATG	p.T205M	ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204216588	204216588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204216588C>T	uc001hau.2	-	13	2142	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	609										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204217956	204217956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204217956G>A	uc001hau.2	-	12	2134	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	606								p.A606V(1)		ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204234146	204234146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204234146C>T	uc001hau.2	-	6	622	c.305G>A	c.(304-306)GGC>GAC	p.G102D		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	102	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379416	204379416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204379416G>A	uc001hav.3	-	1	1529	c.1124C>T	c.(1123-1125)GCT>GTT	p.A375V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	375					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)															---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204401362	204401362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204401362C>T	uc001haw.2	-	28	4600	c.4121G>A	c.(4120-4122)CGC>CAC	p.R1374H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1346H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1374	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)													OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587072	204587072	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204587072A>G	uc001hbe.1	-	3	2437	c.2049T>C	c.(2047-2049)TCT>TCC	p.S683S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S683S|LRRN2_uc009xbf.1_Silent_p.S683S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	683	Cytoplasmic (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588100	204588100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588100T>C	uc001hbe.1	-	3	1409	c.1021A>G	c.(1021-1023)ATG>GTG	p.M341V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.M341V|LRRN2_uc009xbf.1_Missense_Mutation_p.M341V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	341	Extracellular (Potential).|LRR 12.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588840	204588840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588840T>C	uc001hbe.1	-	3	669	c.281A>G	c.(280-282)AAT>AGT	p.N94S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N94S|LRRN2_uc009xbf.1_Missense_Mutation_p.N94S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	94	LRR 2.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588931	204588931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588931G>A	uc001hbe.1	-	3	578	c.190C>T	c.(190-192)CCC>TCC	p.P64S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P64S|LRRN2_uc009xbf.1_Missense_Mutation_p.P64S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	64	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204923419G>A	uc001hbj.2	+	6	647	c.319G>A	c.(319-321)GGG>AGG	p.G107R	NFASC_uc001hbh.2_Missense_Mutation_p.G107R|NFASC_uc010pqz.1_Missense_Mutation_p.G101R|NFASC_uc010pra.1_Missense_Mutation_p.G101R|NFASC_uc001hbi.2_Missense_Mutation_p.G101R|NFASC_uc009xbg.1_Missense_Mutation_p.G174R|NFASC_uc010prb.1_Missense_Mutation_p.G101R|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204926830	204926830	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204926830C>T	uc001hbj.2	+	8	910	c.582C>T	c.(580-582)AAC>AAT	p.N194N	NFASC_uc001hbh.2_Silent_p.N194N|NFASC_uc010pqz.1_Silent_p.N188N|NFASC_uc010pra.1_Silent_p.N188N|NFASC_uc001hbi.2_Silent_p.N188N|NFASC_uc009xbg.1_Silent_p.N261N|NFASC_uc010prb.1_Silent_p.N188N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Silent_p.N15N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	194	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033516	205033516	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205033516T>A	uc001hbr.2	+	11	1576	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	CNTN2_uc001hbq.1_Missense_Mutation_p.I327N|CNTN2_uc001hbs.2_Missense_Mutation_p.I224N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205241020	205241020	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205241020G>T	uc001hbz.1	+	6	2342	c.1898G>T	c.(1897-1899)GGC>GTC	p.G633V	TMCC2_uc010prf.1_Missense_Mutation_p.G555V|TMCC2_uc001hca.2_Missense_Mutation_p.G408V|TMCC2_uc001hcb.1_Missense_Mutation_p.G393V|TMCC2_uc001hcc.1_Missense_Mutation_p.G254V|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	633	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388445	205388445	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388445G>T	uc001hcj.1	-	3	220	c.118C>A	c.(118-120)CAG>AAG	p.Q40K	LEMD1_uc001hci.1_Missense_Mutation_p.Q40K|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	40	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388453	205388453	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388453T>C	uc001hcj.1	-	3	212	c.110A>G	c.(109-111)AAG>AGG	p.K37R	LEMD1_uc001hci.1_Missense_Mutation_p.K37R|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205496974	205496974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205496974T>C	uc001hcr.2	+	9	1091	c.872T>C	c.(871-873)ATC>ACC	p.I291T	CDK18_uc001hcp.2_Missense_Mutation_p.I261T|CDK18_uc001hcq.2_Missense_Mutation_p.I261T|CDK18_uc010prj.1_Missense_Mutation_p.I172T|CDK18_uc001hcs.2_Missense_Mutation_p.I172T|CDK18_uc009xbm.1_Missense_Mutation_p.I186T|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	259	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2																		---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205561362	205561362	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205561362G>A	uc001hcv.3	+	7	1330	c.1244G>A	c.(1243-1245)AGC>AAC	p.S415N	MFSD4_uc010prk.1_Missense_Mutation_p.S328N|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S360N|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	415	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)													OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205568338	205568338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205568338T>C	uc001hcv.3	+	9	1534	c.1448T>C	c.(1447-1449)TTG>TCG	p.L483S	MFSD4_uc010prk.1_Missense_Mutation_p.L396S|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.L428S|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	483	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)															---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205633776	205633776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205633776C>A	uc001hda.1	-	2	348	c.9G>T	c.(7-9)CAG>CAT	p.Q3H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	3					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)					T	ETV1|ETV5|ELK4|ERG	prostate 								---	---	---	---
NUCKS1	64710	broad.mit.edu	37	1	205689743	205689743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205689743G>A	uc001hdb.2	-	5	528	c.268C>T	c.(268-270)CGC>TGC	p.R90C		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	90						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)															---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224429	206224429	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206224429C>T	uc001hds.2	+	1						NM_000707	NP_000698			arginine vasopressin receptor 1B						activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206331109	206331109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206331109A>G	uc001hdu.2	+	9	1233	c.1115A>G	c.(1114-1116)GAT>GGT	p.D372G	CTSE_uc001hdv.2_Missense_Mutation_p.M325V|CTSE_uc010prs.1_Missense_Mutation_p.M250V	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)															---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206611397	206611397	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206611397G>A	uc001hdy.2	+	13	1789	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	SRGAP2_uc010prt.1_Missense_Mutation_p.E409K|SRGAP2_uc001hdx.2_Missense_Mutation_p.E486K|SRGAP2_uc010pru.1_Missense_Mutation_p.E409K|SRGAP2_uc010prv.1_Missense_Mutation_p.E410K	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	573	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)																	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206664989	206664989	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206664989T>A	uc001hdz.1	+	18	2110	c.1742T>A	c.(1741-1743)TTC>TAC	p.F581Y	IKBKE_uc009xbv.1_Missense_Mutation_p.F581Y|IKBKE_uc001hea.1_Missense_Mutation_p.F496Y	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	581					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)																	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207196834	207196834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207196834G>A	uc001hfd.2	-						C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427			specifically androgen-regulated protein isoform							cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)																	---	---	---	---
YOD1	55432	broad.mit.edu	37	1	207222646	207222646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207222646T>C	uc001hfe.1	-	2	813	c.766A>G	c.(766-768)ACC>GCC	p.T256A	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.T212A	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	256	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)																	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207753708	207753708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207753708C>T	uc001hfy.2	+	22	3850	c.3710C>T	c.(3709-3711)TCT>TTT	p.S1237F	CR1_uc009xcl.1_Missense_Mutation_p.S787F|CR1_uc001hfx.2_Missense_Mutation_p.S1687F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1237	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---
CD46	4179	broad.mit.edu	37	1	207963659	207963659	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207963659A>C	uc001hgc.2	+	13					CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_3'UTR|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_3'UTR|CD46_uc001hgj.2_Intron|CD46_uc001hgk.2_3'UTR|CD46_uc001hgl.2_3'UTR|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_3'UTR|CD46_uc001hgo.2_Intron|CD46_uc001hgp.2_Intron	NM_002389	NP_002380			CD46 antigen, complement regulatory protein						complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4																		---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208257862	208257862	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208257862T>C	uc001hgz.2	-	10	2919	c.2161A>G	c.(2161-2163)ACC>GCC	p.T721A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	721	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209799327	209799327	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209799327T>A	uc001hhg.2	-	13	2032	c.1642A>T	c.(1642-1644)AAG>TAG	p.K548*	LAMB3_uc009xco.2_Nonsense_Mutation_p.K548*|LAMB3_uc001hhh.2_Nonsense_Mutation_p.K548*|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	548	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)														---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210637971	210637971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210637971A>G	uc009xcx.2	+	8	1145	c.979A>G	c.(979-981)ACC>GCC	p.T327A	HHAT_uc010psq.1_Missense_Mutation_p.T190A|HHAT_uc001hhz.3_Missense_Mutation_p.T327A|HHAT_uc010psr.1_Missense_Mutation_p.T328A|HHAT_uc010pss.1_Missense_Mutation_p.T282A|HHAT_uc009xcy.2_Missense_Mutation_p.T262A|HHAT_uc010pst.1_Missense_Mutation_p.T264A|HHAT_uc010psu.1_Missense_Mutation_p.T262A|HHAT_uc001hia.3_Missense_Mutation_p.T17A	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	327					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)														---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211451523	211451523	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:211451523G>T	uc001hig.2	+	5	576	c.407G>T	c.(406-408)AGG>ATG	p.R136M	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R194M|RCOR3_uc010psw.1_Missense_Mutation_p.R194M|RCOR3_uc001hif.2_Missense_Mutation_p.R194M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)														---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212560349	212560349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212560349A>G	uc001hjc.3	-	3	395	c.227T>C	c.(226-228)CTG>CCG	p.L76P	TMEM206_uc010pte.1_Missense_Mutation_p.L137P	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	76	Helical; (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)														---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799538	212799538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212799538G>A	uc001hjk.2	+	1	1723	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	440										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213302945	213302945	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213302945C>A	uc010ptr.1	+	6	707	c.548C>A	c.(547-549)GCT>GAT	p.A183D	RPS6KC1_uc001hkd.2_Missense_Mutation_p.A171D|RPS6KC1_uc010pts.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptt.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptu.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.A2D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	183					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214557227C>T	uc001hkk.1	-	13	2242	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	PTPN14_uc010pty.1_Silent_p.T558T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214813868	214813868	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214813868T>C	uc001hkm.2	+	12	2361	c.2187T>C	c.(2185-2187)ACT>ACC	p.T729T		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	729	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214816273	214816273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214816273T>C	uc001hkm.2	+	12	4766	c.4592T>C	c.(4591-4593)CTG>CCG	p.L1531P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1627					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214826425	214826425	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214826425T>C	uc001hkm.2	+							NM_016343	NP_057427			centromere protein F						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
KCNK2	3776	broad.mit.edu	37	1	215342543	215342543	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215342543A>T	uc001hkq.2	+	4	646	c.477A>T	c.(475-477)GGA>GGT	p.G159G	KCNK2_uc001hko.2_Silent_p.G155G|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.G144G	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	159							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)													---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215751371	215751371	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215751371T>C	uc001hks.2	+	6	638	c.344T>C	c.(343-345)TTG>TCG	p.L115S	KCTD3_uc001hkt.2_Missense_Mutation_p.L115S|KCTD3_uc010pub.1_Missense_Mutation_p.L13S|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	115						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215901647	215901647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215901647T>C	uc001hku.1	-	61	12178	c.11791A>G	c.(11791-11793)ACC>GCC	p.T3931A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3931	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216073503	216073503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216073503T>C	uc001hku.1	-	40	7895	c.7508A>G	c.(7507-7509)TAC>TGC	p.Y2503C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2503	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216262383	216262383	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216262383G>A	uc001hku.1	-	23	5244	c.4857C>T	c.(4855-4857)GGC>GGT	p.G1619G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1619	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216369957	216369957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216369957A>G	uc001hku.1	-	19	4576	c.4189T>C	c.(4189-4191)TAT>CAT	p.Y1397H	USH2A_uc001hkv.2_Missense_Mutation_p.Y1397H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1397	Extracellular (Potential).|Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216371840	216371840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216371840T>C	uc001hku.1	-	18	4285	c.3898A>G	c.(3898-3900)AGT>GGT	p.S1300G	USH2A_uc001hkv.2_Missense_Mutation_p.S1300G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1300	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217793422	217793422	+	Missense_Mutation	SNP	C	T	T	rs150988724	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217793422C>T	uc001hlf.1	-	2	572	c.476G>A	c.(475-477)CGC>CAC	p.R159H	GPATCH2_uc001hlg.3_Missense_Mutation_p.R159H	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)														---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217856611	217856611	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217856611A>T	uc001hlh.1	+	5	329	c.303A>T	c.(301-303)CGA>CGT	p.R101R	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.R101R	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	101	IQ 3.					cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)														---	---	---	---
SLC30A10	55532	broad.mit.edu	37	1	220100394	220100394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220100394T>C	uc001hlw.2	-	2	905	c.694A>G	c.(694-696)AAG>GAG	p.K232E	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_Missense_Mutation_p.K7E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	232	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)														---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220193341	220193341	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220193341T>C	uc001hly.1	-	10	1608	c.1338A>G	c.(1336-1338)CTA>CTG	p.L446L	EPRS_uc010puf.1_Silent_p.L197L|EPRS_uc001hlz.1_Silent_p.L446L|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	446	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220203728	220203728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220203728C>T	uc001hly.1	-	6	893	c.623G>A	c.(622-624)GGT>GAT	p.G208D	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.G208D|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	208	"Glutamyl-tRNA synthetase.|""HIGH"" region."				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220275602	220275602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220275602T>C	uc001hmc.2	+	4	786	c.682T>C	c.(682-684)TAC>CAC	p.Y228H		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	228					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220315249	220315249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220315249A>G	uc001hmc.2	+	20	2623	c.2519A>G	c.(2518-2520)CAC>CGC	p.H840R	IARS2_uc001hmd.2_Missense_Mutation_p.H176R	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	840					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324707	220324707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324707T>C	uc010puk.1	-	35	4232	c.4068A>G	c.(4066-4068)ACA>ACG	p.T1356T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.T936T|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1356					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220325021	220325021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220325021T>C	uc010puk.1	-	34	4117	c.3953A>G	c.(3952-3954)CAC>CGC	p.H1318R	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.H898R|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.H262R	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1318					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053336	221053336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221053336T>C	uc001hmv.3	+	1	594	c.137T>C	c.(136-138)ATC>ACC	p.I46T		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	46					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221879722	221879722	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221879722C>T	uc001hmy.1	-	3	1080	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	300					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912385	221912385	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221912385T>C	uc001hmy.1	-	2	884	c.702A>G	c.(700-702)ATA>ATG	p.I234M	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	234	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717326	222717326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222717326T>C	uc001hnh.1	-	2	585	c.527A>G	c.(526-528)GAC>GGC	p.D176G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	176					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)														---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)														---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223971921	223971921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223971921C>A	uc010pvb.1	-	17	3551	c.3259G>T	c.(3259-3261)GGA>TGA	p.G1087*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.G958*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.G320*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.G726*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1081	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---
FBXO28	23219	broad.mit.edu	37	1	224340859	224340859	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224340859T>C	uc001hoh.2	+	4	573	c.532T>C	c.(532-534)TAT>CAT	p.Y178H	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	178										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)														---	---	---	---
CNIH4	29097	broad.mit.edu	37	1	224559058	224559058	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224559058T>C	uc001hom.1	+	4	357	c.325T>C	c.(325-327)TCA>CCA	p.S109P	CNIH4_uc001hon.1_Intron	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	cornichon homolog 4	109					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.00341)														---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224599216	224599216	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224599216T>C	uc001hop.3	-	7	996	c.630A>G	c.(628-630)GAA>GAG	p.E210E	WDR26_uc001hoq.3_Silent_p.E194E|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	357	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)														---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224804931	224804931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224804931G>A	uc001hos.1	+	1	753	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	19	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)														---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226030158	226030158	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226030158G>T	uc001hpk.2	+	7	1103	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	EPHX1_uc001hpl.2_Missense_Mutation_p.E341D	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	341					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)																	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550840	226550840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226550840T>C	uc001hqd.3	-	21	2979	c.2808A>G	c.(2806-2808)TCA>TCG	p.S936S		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	936	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
PARP1	142	broad.mit.edu	37	1	226578278	226578278	+	Silent	SNP	C	T	T	rs142376976		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226578278C>T	uc001hqd.3	-	4	621	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	150	PARP-type 2.|				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
CABC1	56997	broad.mit.edu	37	1	227152890	227152890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227152890G>A	uc001hqm.1	+	8	3786	c.367G>A	c.(367-369)GGA>AGA	p.G123R	CABC1_uc010pvp.1_Missense_Mutation_p.G86R|CABC1_uc001hqn.1_Missense_Mutation_p.G123R|CABC1_uc009xeq.1_Missense_Mutation_p.G71R|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	123					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)																---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227227828	227227828	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227227828T>C	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
ZNF678	339500	broad.mit.edu	37	1	227843127	227843127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227843127T>C	uc001hqw.1	+	4	1521	c.1176T>C	c.(1174-1176)CTT>CTC	p.L392L	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)																---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227935786	227935786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227935786A>G	uc001hrf.2	+	2	898	c.484A>G	c.(484-486)ACC>GCC	p.T162A	SNAP47_uc001hqz.2_Missense_Mutation_p.T117A|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.T162A|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.T117A	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	162	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1																		---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228334650	228334650	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228334650C>T	uc001hsh.2	+						GUK1_uc001hsi.2_Intron|GUK1_uc001hsj.2_Intron|GUK1_uc010pvv.1_Intron|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849			guanylate kinase 1 isoform b						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---
C1orf69	200205	broad.mit.edu	37	1	228362488	228362488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228362488G>A	uc001hsl.3	+	2	526	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	146					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228431128	228431128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228431128C>T	uc009xez.1	+	10	3218	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	OBSCN_uc001hsn.2_Silent_p.G1058G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1058	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468349	228468349	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228468349C>T	uc009xez.1	+	30	8093	c.8049C>T	c.(8047-8049)GGC>GGT	p.G2683G	OBSCN_uc001hsn.2_Silent_p.G2683G|OBSCN_uc001hsp.1_Silent_p.G382G|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2683	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476538	228476538	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476538T>C	uc009xez.1	+	38	10332	c.10288T>C	c.(10288-10290)TAC>CAC	p.Y3430H	OBSCN_uc001hsn.2_Missense_Mutation_p.Y3430H|OBSCN_uc001hsq.1_Missense_Mutation_p.Y686H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3430	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476571	228476571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476571G>A	uc009xez.1	+	38	10365	c.10321G>A	c.(10321-10323)GCC>ACC	p.A3441T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3441T|OBSCN_uc001hsq.1_Missense_Mutation_p.A697T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3441	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228523973	228523973	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228523973T>C	uc009xez.1	+	64	16581	c.16537_splice	c.e64+2	p.E5513_splice	OBSCN_uc001hsn.2_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice	NM_001098623	NP_001092093			obscurin, cytoskeletal calmodulin and						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228524766	228524766	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228524766G>T	uc009xez.1	+	65	16643	c.16599G>T	c.(16597-16599)GAG>GAT	p.E5533D	OBSCN_uc001hsn.2_Missense_Mutation_p.E5533D|OBSCN_uc001hsr.1_Missense_Mutation_p.E161D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5533					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228879123	228879123	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228879123A>C	uc001htf.2	+	3	1034	c.413A>C	c.(412-414)AAC>ACC	p.N138T		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	138					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229666069	229666069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229666069G>A	uc001htp.3	-	8	1565	c.1522C>T	c.(1522-1524)CCC>TCC	p.P508S		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	508	Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229683280	229683280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229683280G>A	uc001htp.3	-	3	930	c.887C>T	c.(886-888)GCC>GTC	p.A296V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	296	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230381798	230381798	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230381798T>C	uc010pwa.1	+						GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472			polypeptide N-acetylgalactosaminyltransferase 2						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)																---	---	---	---
PGBD5	79605	broad.mit.edu	37	1	230492723	230492723	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230492723T>C	uc010pwb.1	-	2	469	c.469A>G	c.(469-471)ACG>GCG	p.T157A	PGBD5_uc001htv.2_Missense_Mutation_p.T256A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	157						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)														---	---	---	---
COG2	22796	broad.mit.edu	37	1	230810880	230810880	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230810880C>T	uc001htw.2	+						COG2_uc001htx.2_Intron|COG2_uc010pwc.1_Intron	NM_007357	NP_031383			component of oligomeric golgi complex 2 isoform						Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
COG2	22796	broad.mit.edu	37	1	230814715	230814715	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230814715G>T	uc001htw.2	+	10	1234	c.1083G>T	c.(1081-1083)CAG>CAT	p.Q361H	COG2_uc001htx.2_Missense_Mutation_p.Q361H|COG2_uc010pwc.1_Missense_Mutation_p.Q234H	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	361					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979489	230979489	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979489C>A	uc001hub.2	-	3	582	c.538G>T	c.(538-540)GGC>TGC	p.G180C	C1orf198_uc009xfh.1_Missense_Mutation_p.G50C|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G142C	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	180											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979510	230979510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979510A>G	uc001hub.2	-	3	561	c.517T>C	c.(517-519)TCC>CCC	p.S173P	C1orf198_uc009xfh.1_Missense_Mutation_p.S43P|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.S135P	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	173											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231337179	231337179	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231337179T>A	uc009xfn.1	+	5	1492	c.1450T>A	c.(1450-1452)TCT>ACT	p.S484T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	484	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)																---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231364893	231364893	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231364893T>C	uc001hun.1	-						C1orf131_uc001hul.2_Intron|C1orf131_uc001hum.2_Intron|C1orf131_uc010pwd.1_Intron	NM_152379	NP_689592			hypothetical protein LOC128061											central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)																---	---	---	---
EGLN1	54583	broad.mit.edu	37	1	231556926	231556926	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231556926C>T	uc001huv.2	-	1	3865	c.709G>A	c.(709-711)GAC>AAC	p.D237N	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	237					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)													---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231906664	231906664	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231906664G>A	uc001huz.2	+	6	1535	c.1482G>A	c.(1480-1482)GAG>GAA	p.E494E	TSNAX-DISC1_uc010pwg.1_Silent_p.E483E|TSNAX-DISC1_uc010pwh.1_Silent_p.E449E|TSNAX-DISC1_uc010pwi.1_Silent_p.E449E|TSNAX-DISC1_uc010pwj.1_Silent_p.E483E|TSNAX-DISC1_uc010pwk.1_Silent_p.E483E|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.E494E|DISC1_uc010pwr.1_Silent_p.E494E|DISC1_uc010pws.1_Silent_p.E494E|DISC1_uc010pwt.1_Silent_p.E494E|DISC1_uc010pwu.1_Silent_p.E144E|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.E494E|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.E494E|DISC1_uc010pxb.1_Silent_p.E494E|DISC1_uc010pxc.1_Silent_p.E494E|DISC1_uc010pxd.1_Silent_p.E139E|DISC1_uc010pxe.1_Silent_p.E494E|DISC1_uc009xfr.2_Silent_p.E449E|DISC1_uc010pxf.1_Silent_p.E494E|DISC1_uc010pxg.1_Silent_p.E494E|DISC1_uc010pxh.1_Silent_p.E526E|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.E139E|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.E139E|DISC1_uc001hva.2_Silent_p.E494E	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	494	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232539873	232539873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232539873A>G	uc001hvg.2	-	18	4972	c.4814T>C	c.(4813-4815)CTA>CCA	p.L1605P	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1605					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232601173	232601173	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232601173A>G	uc001hvg.2	-							NM_020808	NP_065859			signal-induced proliferation-associated 1 like						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
KIAA1383	54627	broad.mit.edu	37	1	232942838	232942838	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232942838C>A	uc001hvh.2	+	1	2201	c.2069C>A	c.(2068-2070)TCT>TAT	p.S690Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	548										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)																---	---	---	---
C1orf57	84284	broad.mit.edu	37	1	233091413	233091413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233091413G>T	uc001hvj.1	+	2	232	c.145G>T	c.(145-147)GGA>TGA	p.G49*	C1orf57_uc001hvi.2_Nonsense_Mutation_p.G49*|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	49							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)																---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345219	235345219	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235345219A>C	uc001hwq.2	-	20	3513	c.3015T>G	c.(3013-3015)AAT>AAG	p.N1005K	ARID4B_uc001hwr.2_Missense_Mutation_p.N919K|ARID4B_uc001hws.3_Missense_Mutation_p.N919K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.N686K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377281	235377281	+	Silent	SNP	C	T	T	rs113894806		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377332	235377332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377332C>T	uc001hwq.2	-	17	2091	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.T212T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	531	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235920623G>A	uc001hxj.2	-	24	7192	c.7017C>T	c.(7015-7017)CTC>CTT	p.L2339L		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
LYST	1130	broad.mit.edu	37	1	235922861	235922861	+	Missense_Mutation	SNP	C	T	T	rs146091043	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235922861C>T	uc001hxj.2	-	23	6467	c.6292G>A	c.(6292-6294)GCC>ACC	p.A2098T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2098					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189447	236189447	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189447G>A	uc001hxo.2	-						NID1_uc009xgd.2_Intron	NM_002508	NP_002499			nidogen 1 precursor						cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236738141	236738141	+	Silent	SNP	G	T	T	rs138699782	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236738141G>T	uc001hyd.1	-	23	3272	c.3147C>A	c.(3145-3147)CCC>CCA	p.P1049P	HEATR1_uc009xgh.1_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1049					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236920856	236920856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236920856T>C	uc001hyf.2	+	18	2429	c.2225T>C	c.(2224-2226)ATC>ACC	p.I742T	ACTN2_uc001hyg.2_Missense_Mutation_p.I534T|ACTN2_uc009xgi.1_Missense_Mutation_p.I742T|ACTN2_uc010pxu.1_Missense_Mutation_p.I431T|ACTN2_uc001hyh.2_Missense_Mutation_p.I430T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	742					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
MTR	4548	broad.mit.edu	37	1	237001790	237001790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237001790T>C	uc001hyi.3	+	15	1829	c.1406T>C	c.(1405-1407)GTC>GCC	p.V469A	MTR_uc010pxw.1_Missense_Mutation_p.V62A|MTR_uc010pxx.1_Missense_Mutation_p.V469A|MTR_uc010pxy.1_Missense_Mutation_p.V469A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	469	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237049633	237049633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237049633T>C	uc001hyi.3	+	27	3240	c.2817T>C	c.(2815-2817)GGT>GGC	p.G939G	MTR_uc010pxw.1_Silent_p.G532G|MTR_uc010pxx.1_Silent_p.G888G|MTR_uc010pxy.1_Silent_p.G793G	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	939	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237057735	237057735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237057735G>A	uc001hyi.3	+	30	3706	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N	MTR_uc010pxw.1_Missense_Mutation_p.D688N|MTR_uc010pxx.1_Missense_Mutation_p.D1044N|MTR_uc010pxy.1_Missense_Mutation_p.D949N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1095	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237608788	237608788	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237608788C>T	uc001hyl.1	+	14	1378	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237660039	237660039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237660039T>C	uc001hyl.1	+	20	2310	c.2190T>C	c.(2188-2190)CTT>CTC	p.L730L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	730	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237923159	237923159	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237923159A>G	uc001hyl.1	+						RYR2_uc010pya.1_Intron	NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238048462	238048462	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238048462T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238051650	238051650	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238051650T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072456	240072456	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240072456C>T	uc001hyp.2	+	5	2484	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	569	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)													---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256747	240256747	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240256747G>A	uc010pyd.1	+	1	1563	c.1338G>A	c.(1336-1338)CGG>CGA	p.R446R	FMN2_uc010pye.1_Silent_p.R446R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	446					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497204	240497204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240497204T>C	uc010pyd.1	+	12	4827	c.4602T>C	c.(4600-4602)CTT>CTC	p.L1534L	FMN2_uc010pye.1_Silent_p.L1538L|FMN2_uc010pyf.1_Silent_p.L180L|FMN2_uc010pyg.1_Silent_p.L130L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1534	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656448	240656448	+	Missense_Mutation	SNP	C	T	T	rs146387570		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656448C>T	uc001hys.2	-	2	608	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	110	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798852	241798852	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241798852T>A	uc001hzd.2	-	1	381	c.217A>T	c.(217-219)ACT>TCT	p.T73S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	73					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)															---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242020693	242020693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242020693C>T	uc001hzh.2	+	7	992	c.452C>T	c.(451-453)GCT>GTT	p.A151V	EXO1_uc001hzi.2_Missense_Mutation_p.A151V|EXO1_uc001hzj.2_Missense_Mutation_p.A151V|EXO1_uc009xgq.2_Missense_Mutation_p.A151V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	151	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242052913	242052913	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052913C>T	uc001hzh.2	+	16					EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_3'UTR|EXO1_uc009xgq.2_3'UTR	NM_130398	NP_569082			exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243727145	243727145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243727145C>T	uc001iab.1	-	9	906	c.825G>A	c.(823-825)GAG>GAA	p.E275E	AKT3_uc001hzz.1_Silent_p.E275E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	275	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217659C>T	uc001iae.2	+	1	1078	c.556C>T	c.(556-558)CGA>TGA	p.R186*	ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217906	244217906	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217906A>T	uc001iae.2	+	1	1325	c.803A>T	c.(802-804)AAC>ATC	p.N268I	ZNF238_uc001iad.3_Missense_Mutation_p.N277I|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	268					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ADSS	159	broad.mit.edu	37	1	244574657	244574657	+	Missense_Mutation	SNP	G	A	A	rs150012791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244574657G>A	uc001iaj.2	-	12	1544	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
ADSS	159	broad.mit.edu	37	1	244595888	244595888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244595888C>T	uc001iaj.2	-	4	659	c.365G>A	c.(364-366)GGC>GAC	p.G122D	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244756860	244756860	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244756860G>A	uc001iam.2	+	17	2342	c.2283G>A	c.(2281-2283)AAG>AAA	p.K761K	C1orf101_uc001iak.1_Silent_p.K315K|C1orf101_uc001ial.2_Silent_p.K761K|C1orf101_uc010pym.1_Silent_p.K610K|C1orf101_uc010pyn.1_Silent_p.K694K	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	761	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245017773	245017773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245017773A>G	uc001iaz.1	-	14	2675	c.2457T>C	c.(2455-2457)CAT>CAC	p.H819H	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.H543H|HNRNPU_uc001iba.1_Silent_p.H800H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	819	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245019225	245019225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245019225A>G	uc001iaz.1	-	11	2366	c.2148T>C	c.(2146-2148)GGT>GGC	p.G716G	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G440G|HNRNPU_uc001iba.1_Silent_p.G697G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	716	RNA-binding RGG-box.|Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245765975	245765975	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245765975T>C	uc001ibf.1	+	6	1887	c.1447T>C	c.(1447-1449)TTG>CTG	p.L483L	KIF26B_uc010pyq.1_Silent_p.L483L|KIF26B_uc001ibg.1_Silent_p.L101L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	483	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245770996	245770996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245770996T>C	uc001ibf.1	+	7	2041	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	KIF26B_uc010pyq.1_Missense_Mutation_p.V534A|KIF26B_uc001ibg.1_Missense_Mutation_p.V152A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	534	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849553	245849553	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245849553A>G	uc001ibf.1	+	12	3708	c.3268A>G	c.(3268-3270)AAA>GAA	p.K1090E	KIF26B_uc001ibg.1_Missense_Mutation_p.K708E|KIF26B_uc001ibh.1_Missense_Mutation_p.K332E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1090					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850411	245850411	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245850411G>A	uc001ibf.1	+	12	4566	c.4126G>A	c.(4126-4128)GCC>ACC	p.A1376T	KIF26B_uc001ibg.1_Missense_Mutation_p.A994T|KIF26B_uc001ibh.1_Missense_Mutation_p.A618T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1376					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246027162	246027162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246027162C>T	uc001ibl.2	-	9	935	c.840G>A	c.(838-840)GAG>GAA	p.E280E	SMYD3_uc001ibk.2_Silent_p.E221E|SMYD3_uc001ibi.2_Silent_p.E91E|SMYD3_uc001ibj.2_Silent_p.E91E	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	280						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246078843	246078843	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246078843T>C	uc001ibl.2	-	8	897	c.802A>G	c.(802-804)ACC>GCC	p.T268A	SMYD3_uc001ibk.2_Missense_Mutation_p.T209A|SMYD3_uc001ibi.2_Missense_Mutation_p.T79A|SMYD3_uc001ibj.2_Missense_Mutation_p.T79A	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	268						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247014121	247014121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247014121G>A	uc001ibu.1	-	32	5194	c.5187C>T	c.(5185-5187)AGC>AGT	p.S1729S	AHCTF1_uc001ibv.1_Silent_p.S1738S|AHCTF1_uc009xgs.1_Silent_p.S590S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1729	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247071023	247071023	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247071023T>C	uc001ibu.1	-	4	601	c.594A>G	c.(592-594)CCA>CCG	p.P198P	AHCTF1_uc001ibv.1_Silent_p.P207P	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	198	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151044	247151044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151044A>G	uc009xgu.2	-	4	918	c.773T>C	c.(772-774)GTT>GCT	p.V258A	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	258	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151183	247151183	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151183A>G	uc009xgu.2	-	4	779	c.634T>C	c.(634-636)TAC>CAC	p.Y212H	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	212	C2H2-type 3; atypical.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF669	79862	broad.mit.edu	37	1	247264102	247264102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247264102C>T	uc001ice.2	-	4	1142	c.969G>A	c.(967-969)ACG>ACA	p.T323T	ZNF669_uc001icf.2_Silent_p.T237T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	323	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875672	247875672	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875672G>A	uc001idj.1	-	1	386	c.386C>T	c.(385-387)CCT>CTT	p.P129L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978673	247978673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978673C>T	uc001idm.1	-	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004583	248004583	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248004583C>T	uc001idn.1	-	1	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112949	248112949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112949C>A	uc001idt.1	+	1	790	c.790C>A	c.(790-792)CTG>ATG	p.L264M	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224182	248224182	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248224182C>A	uc001idx.1	+	1	199	c.199C>A	c.(199-201)CTC>ATC	p.L67I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551708	248551708	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248551708A>G	uc001iei.1	+	1	799	c.799A>G	c.(799-801)ACC>GCC	p.T267A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616313	248616313	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248616313C>A	uc001iek.1	+	1	215	c.215C>A	c.(214-216)ACC>AAC	p.T72N		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685734	248685734	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685734G>A	uc001ien.1	+	1	787	c.787G>A	c.(787-789)GCC>ACC	p.A263T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844710	248844710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248844710A>G	uc001ieu.1	-	1	896	c.896T>C	c.(895-897)ATG>ACG	p.M299T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249149772	249149772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249149772C>A	uc001ifc.1	-	8	1111	c.944G>T	c.(943-945)GGC>GTC	p.G315V	ZNF692_uc001iez.1_Missense_Mutation_p.G37V|ZNF692_uc001ifa.1_Missense_Mutation_p.G37V|ZNF692_uc001ifb.1_Missense_Mutation_p.G111V|ZNF692_uc001ifd.1_Missense_Mutation_p.G314V|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.G270V|ZNF692_uc010pzr.1_Missense_Mutation_p.G320V	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1079240	1079240	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1079240T>A	uc002qwq.2	+	2	237	c.109T>A	c.(109-111)TCC>ACC	p.S37T	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.S37T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)														---	---	---	---
TPO	7173	broad.mit.edu	37	2	1437321	1437321	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1437321A>G	uc002qww.2	+	4	382	c.291A>G	c.(289-291)TCA>TCG	p.S97S	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.S97S|TPO_uc002qwu.2_Silent_p.S97S|TPO_uc002qwr.2_Silent_p.S97S|TPO_uc002qwx.2_Silent_p.S97S|TPO_uc010yio.1_Silent_p.S97S|TPO_uc010yip.1_Silent_p.S97S	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	97	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392316	3392316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392316G>A	uc002qxm.1	+	2	1128	c.922G>A	c.(922-924)GAC>AAC	p.D308N	TTC15_uc002qxn.1_Missense_Mutation_p.D308N|TTC15_uc010ewm.1_Missense_Mutation_p.D308N|TTC15_uc002qxl.1_Missense_Mutation_p.D308N	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	308							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392319	3392319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392319G>A	uc002qxm.1	+	2	1131	c.925G>A	c.(925-927)GCC>ACC	p.A309T	TTC15_uc002qxn.1_Missense_Mutation_p.A309T|TTC15_uc010ewm.1_Missense_Mutation_p.A309T|TTC15_uc002qxl.1_Missense_Mutation_p.A309T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	309							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
RPS7	6201	broad.mit.edu	37	2	3627805	3627805	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3627805A>T	uc002qxw.2	+	6	568	c.462A>T	c.(460-462)ATA>ATT	p.I154I	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	154					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)														---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743888	3743888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3743888G>A	uc010ewt.2	+	9	852	c.691G>A	c.(691-693)GCG>ACG	p.A231T	ALLC_uc002qyf.2_Missense_Mutation_p.A2T	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	250							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3744991	3744991	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3744991A>T	uc010ewt.2	+	10	956	c.795A>T	c.(793-795)CGA>CGT	p.R265R	ALLC_uc002qyf.2_Silent_p.R36R	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	284							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
SOX11	6664	broad.mit.edu	37	2	5833108	5833108	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:5833108G>A	uc002qyj.2	+	1	310	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	85	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)														---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137188	7137188	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7137188C>T	uc002qys.2	+	3	573	c.131C>T	c.(130-132)ACT>ATT	p.T44I	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	44	RING-type 1; atypical.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7154836	7154836	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7154836C>T	uc002qys.2	+						RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561			ring finger protein 144							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871208	8871208	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8871208G>T	uc002qzc.2	-	30	5140	c.4958C>A	c.(4957-4959)CCT>CAT	p.P1653H	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1554H|KIDINS220_uc002qzb.2_Missense_Mutation_p.P507H	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1653	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8917030	8917030	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8917030A>G	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8919145	8919145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8919145T>A	uc002qzc.2	-	19	2677	c.2495A>T	c.(2494-2496)GAC>GTC	p.D832V	KIDINS220_uc010yiv.1_Missense_Mutation_p.D598V|KIDINS220_uc002qzd.2_Missense_Mutation_p.D790V|KIDINS220_uc010yiw.1_Missense_Mutation_p.D833V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	832	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8934031	8934031	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8934031T>A	uc002qzc.2	-	12	1367	c.1185A>T	c.(1183-1185)CGA>CGT	p.R395R	KIDINS220_uc010yiv.1_Silent_p.R161R|KIDINS220_uc002qzd.2_Silent_p.R353R|KIDINS220_uc010yiw.1_Silent_p.R396R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	395	Cytoplasmic (Potential).|ANK 12.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8937007	8937007	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8937007C>T	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
MBOAT2	129642	broad.mit.edu	37	2	9013440	9013440	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9013440G>A	uc002qzg.1	-						MBOAT2_uc010yix.1_Intron	NM_138799	NP_620154			O-acyltransferase (membrane bound) domain						phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531284	9531284	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531284C>A	uc002qzh.2	+	23	2817	c.2477C>A	c.(2476-2478)GCT>GAT	p.A826D	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	826	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531330	9531330	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531330G>A	uc002qzh.2	+						ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878			ArfGAP with SH3 domain, ankyrin repeat and PH						regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10095208	10095208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10095208G>A	uc002raa.2	+	2	356	c.185G>A	c.(184-186)GGC>GAC	p.G62D	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_RNA	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	62	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10130832	10130832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10130832G>A	uc002raa.2	+	10	1449	c.1278G>A	c.(1276-1278)GAG>GAA	p.E426E	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.E237E|GRHL1_uc010yjb.1_Silent_p.E275E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	426					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
HPCAL1	3241	broad.mit.edu	37	2	10559932	10559932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10559932C>T	uc002raj.2	+	3	423	c.49C>T	c.(49-51)CGG>TGG	p.R17W	HPCAL1_uc002rak.2_Missense_Mutation_p.R17W|HPCAL1_uc002ral.2_Missense_Mutation_p.R17W|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.R17W	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	17							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)														---	---	---	---
NOL10	79954	broad.mit.edu	37	2	10729375	10729375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10729375T>C	uc002raq.2	-	19	1763	c.1638A>G	c.(1636-1638)GAA>GAG	p.E546E	NOL10_uc010yje.1_Silent_p.E520E|NOL10_uc010yjf.1_Silent_p.E496E|NOL10_uc002rap.2_Silent_p.E496E	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	546	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)														---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10912074	10912074	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10912074G>A	uc002ras.2	+						ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451			vacuolar H+ ATPase C2 isoform a						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)														---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11765302	11765302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11765302G>A	uc002rbk.1	+	24	4470	c.4170G>A	c.(4168-4170)TGG>TGA	p.W1390*	GREB1_uc002rbp.1_Nonsense_Mutation_p.W388*	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1390						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11911703	11911703	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11911703A>G	uc010yjn.1	+	5	768	c.494A>G	c.(493-495)GAC>GGC	p.D165G	LPIN1_uc010yjm.1_Missense_Mutation_p.D214G|LPIN1_uc002rbt.2_Missense_Mutation_p.D165G|LPIN1_uc002rbs.2_Missense_Mutation_p.D165G	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	165					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)														---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863637	12863637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:12863637G>A	uc002rbv.3	+	2	1958	c.522G>A	c.(520-522)CGG>CGA	p.R174R	TRIB2_uc010yjp.1_Silent_p.R38R	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	174	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15769774	15769774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15769774A>G	uc002rce.2	+	24	2212	c.1924A>G	c.(1924-1926)AGA>GGA	p.R642G		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	642	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)														---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17697217	17697217	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17697217A>G	uc002rcl.1	-	1	2490	c.2466T>C	c.(2464-2466)AGT>AGC	p.S822S	RAD51AP2_uc010exn.1_Silent_p.S813S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	822										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898096	17898096	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17898096A>G	uc002rco.2	-	14	1554	c.1258T>C	c.(1258-1260)TTT>CTT	p.F420L	SMC6_uc010exo.2_Missense_Mutation_p.F420L|SMC6_uc002rcn.2_Missense_Mutation_p.F420L|SMC6_uc002rcp.1_Missense_Mutation_p.F446L|SMC6_uc002rcq.2_Missense_Mutation_p.F446L|SMC6_uc002rcr.1_Missense_Mutation_p.F420L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	420	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17954063	17954063	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17954063T>A	uc010exo.2	-						GEN1_uc002rct.2_Intron|GEN1_uc010yjs.1_Intron|GEN1_uc002rcu.2_Intron	NM_024624	NP_078900			SMC6 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962934	17962934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962934A>G	uc002rct.2	+	14	2528	c.2455A>G	c.(2455-2457)AGA>GGA	p.R819G	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.R819G|GEN1_uc002rcu.2_Missense_Mutation_p.R819G	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	819					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962986	17962986	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962986G>T	uc002rct.2	+	14	2580	c.2507G>T	c.(2506-2508)GGC>GTC	p.G836V	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.G836V|GEN1_uc002rcu.2_Missense_Mutation_p.G836V	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	836					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18766389	18766389	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18766389A>T	uc002rcz.2	-						NT5C1B_uc002rcy.2_Intron|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Intron|NT5C1B_uc010yjw.1_Intron|NT5C1B_uc010exs.2_Intron|NT5C1B_uc002rdb.1_5'Flank	NM_001002006	NP_001002006			5' nucleotidase, cytosolic IB isoform 1						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)																---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20403763	20403763	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20403763C>A	uc002rdo.1	-	3	737	c.438G>T	c.(436-438)CAG>CAT	p.Q146H	SDC1_uc002rdp.1_Missense_Mutation_p.Q146H|SDC1_uc010exv.2_Missense_Mutation_p.Q146H|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	146	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20451433	20451433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20451433C>T	uc002rds.1	-	20	3131	c.3108G>A	c.(3106-3108)AAG>AAA	p.K1036K	PUM2_uc002rdq.1_Silent_p.K415K|PUM2_uc002rdt.1_Silent_p.K1036K|PUM2_uc002rdr.2_Silent_p.K896K|PUM2_uc010yjy.1_Silent_p.K957K|PUM2_uc002rdu.1_Silent_p.K1036K|PUM2_uc010yjz.1_Silent_p.K975K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	1038	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20483138	20483138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20483138T>C	uc002rds.1	-	10	1424	c.1401A>G	c.(1399-1401)ACA>ACG	p.T467T	PUM2_uc002rdt.1_Silent_p.T467T|PUM2_uc002rdr.2_Silent_p.T406T|PUM2_uc010yjy.1_Silent_p.T467T|PUM2_uc002rdu.1_Silent_p.T467T|PUM2_uc010yjz.1_Silent_p.T406T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	467	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
APOB	338	broad.mit.edu	37	2	21224949	21224949	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21224949G>T	uc002red.2	-	29	13473	c.13345C>A	c.(13345-13347)CAG>AAG	p.Q4449K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4449					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230586	21230586	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230586T>G	uc002red.2	-	26	9282	c.9154A>C	c.(9154-9156)AAT>CAT	p.N3052H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3052					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230676	21230676	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230676C>A	uc002red.2	-	26	9192	c.9064G>T	c.(9064-9066)GAT>TAT	p.D3022Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21232015	21232015	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21232015T>C	uc002red.2	-	26	7853	c.7725A>G	c.(7723-7725)AAA>AAG	p.K2575K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2575					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21237364	21237364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21237364C>A	uc002red.2	-	24	3926	c.3798G>T	c.(3796-3798)ATG>ATT	p.M1266I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1266					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21238370	21238370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21238370G>A	uc002red.2	-	22	3508	c.3380C>T	c.(3379-3381)CCC>CTC	p.P1127L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1127					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252548	21252548	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252548G>A	uc002red.2	-	12	1708	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	527	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252767	21252767	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252767T>C	uc002red.2	-							NM_000384	NP_000375			apolipoprotein B precursor						cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24033224	24033224	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24033224A>G	uc002rek.3	-	18	2710	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.S51P|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	806							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24046213	24046213	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24046213C>T	uc002rek.3	-	16	2340	c.2046G>A	c.(2044-2046)CTG>CTA	p.L682L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	682							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24194218	24194218	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24194218T>A	uc010exy.2	+	4	582	c.114T>A	c.(112-114)GAT>GAA	p.D38E	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D38E|UBXN2A_uc010ykj.1_Missense_Mutation_p.D38E	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	38											0																		---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24205770	24205770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24205770T>A	uc010exy.2	+	6	760	c.292T>A	c.(292-294)TTA>ATA	p.L98I	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.L98I|UBXN2A_uc010ykj.1_Missense_Mutation_p.L98I	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	98	SEP.										0																		---	---	---	---
LOC375190	375190	broad.mit.edu	37	2	24342558	24342558	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24342558T>A	uc002rew.2	+						PFN4_uc002rfa.1_Intron					SubName: Full=Putative uncharacterized protein C2orf84;												0																		---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24493619	24493619	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24493619A>G	uc002rfe.2	-	20	2534	c.2276T>C	c.(2275-2277)TTG>TCG	p.L759S	ITSN2_uc002rff.2_Missense_Mutation_p.L732S|ITSN2_uc002rfg.2_Missense_Mutation_p.L759S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	759	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24533475	24533475	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24533475T>A	uc002rfe.2	-	6	697	c.439A>T	c.(439-441)ACC>TCC	p.T147S	ITSN2_uc002rff.2_Missense_Mutation_p.T147S|ITSN2_uc002rfg.2_Missense_Mutation_p.T147S|ITSN2_uc010eyd.2_Missense_Mutation_p.T147S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	147					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24927967	24927967	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24927967G>A	uc002rfk.2	+	10	1220	c.962G>A	c.(961-963)GGC>GAC	p.G321D	NCOA1_uc010eye.2_Missense_Mutation_p.G321D|NCOA1_uc002rfi.2_Missense_Mutation_p.G170D|NCOA1_uc002rfj.2_Missense_Mutation_p.G321D|NCOA1_uc002rfl.2_Missense_Mutation_p.G321D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	321									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929562	24929562	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24929562C>T	uc002rfk.2	+	11	1481	c.1223C>T	c.(1222-1224)CCA>CTA	p.P408L	NCOA1_uc010eye.2_Missense_Mutation_p.P408L|NCOA1_uc002rfi.2_Missense_Mutation_p.P257L|NCOA1_uc002rfj.2_Missense_Mutation_p.P408L|NCOA1_uc002rfl.2_Missense_Mutation_p.P408L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	408	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
CENPO	79172	broad.mit.edu	37	2	25037355	25037355	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25037355T>A	uc002rfo.1	+	4	516	c.327T>A	c.(325-327)CAT>CAA	p.H109Q	CENPO_uc002rfn.2_Missense_Mutation_p.H109Q|CENPO_uc002rfp.1_Missense_Mutation_p.H103Q|CENPO_uc002rfq.1_Missense_Mutation_p.H109Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	109	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25384290	25384290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25384290C>T	uc002rfy.1	-	4	727	c.464G>A	c.(463-465)CGC>CAC	p.R155H	POMC_uc002rfz.1_Missense_Mutation_p.R155H|POMC_uc002rga.1_Missense_Mutation_p.R155H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	155					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)													---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25463242	25463242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25463242A>T	uc002rgc.2	-	19	2508	c.2251T>A	c.(2251-2253)TTC>ATC	p.F751I	DNMT3A_uc002rgd.2_Missense_Mutation_p.F751I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.F562I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	751					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26437359	26437359	+	Nonsense_Mutation	SNP	G	A	A	rs137852775		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26437359G>A	uc002rgy.2	-	9	1001	c.871C>T	c.(871-873)CGA>TGA	p.R291*	HADHA_uc010yks.1_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)													---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26502916	26502916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26502916T>C	uc002rgz.2	+	10	1117	c.866T>C	c.(865-867)ATG>ACG	p.M289T	HADHB_uc010ykv.1_Missense_Mutation_p.M267T|HADHB_uc010ykw.1_Missense_Mutation_p.M274T|HADHB_uc002rha.2_Missense_Mutation_p.M166T|HADHB_uc010ykx.1_Missense_Mutation_p.M215T	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	289					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26644259	26644259	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26644259A>C	uc002rhg.2	+	3	421	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	116	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26676390	26676390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26676390C>T	uc002rhg.2	+	14	1966	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	631											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26695445	26695445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26695445A>G	uc002rhk.2	-	30	3933	c.3806T>C	c.(3805-3807)GTG>GCG	p.V1269A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.V502A|OTOF_uc002rhi.2_Missense_Mutation_p.V579A|OTOF_uc002rhj.2_Missense_Mutation_p.V502A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1269	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26702518	26702518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26702518T>C	uc002rhk.2	-	17	2043	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	639	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26741942	26741942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26741942A>G	uc002rhk.2	-	4	390	c.263T>C	c.(262-264)GTG>GCG	p.V88A	OTOF_uc010ylb.1_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	88	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27162933	27162933	+	Missense_Mutation	SNP	C	T	T	rs147693720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27162933C>T	uc002rhu.3	+	9	1140	c.982C>T	c.(982-984)CCT>TCT	p.P328S	DPYSL5_uc002rhv.3_Missense_Mutation_p.P328S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	328					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27276785	27276785	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27276785T>A	uc002rie.2	+	4	626	c.409T>A	c.(409-411)TTA>ATA	p.L137I	AGBL5_uc002ric.2_Missense_Mutation_p.L137I|AGBL5_uc002rid.2_Missense_Mutation_p.L137I|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	137					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449763	27449763	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27449763T>A	uc002rji.2	+	15	2382	c.2220T>A	c.(2218-2220)ATT>ATA	p.I740I	CAD_uc010eyw.2_Silent_p.I677I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	740	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481702	27481702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27481702T>C	uc002rjk.2	-	2	382	c.196A>G	c.(196-198)ACC>GCC	p.T66A	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.T61A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	66	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
TRIM54	57159	broad.mit.edu	37	2	27529138	27529138	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27529138C>A	uc002rjo.2	+	7	924	c.924C>A	c.(922-924)AGC>AGA	p.S308R	TRIM54_uc002rjn.2_Missense_Mutation_p.S350R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	308	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27560373	27560373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27560373A>G	uc002rjv.1	-	7	1366	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.W346R|GTF3C2_uc002rjw.1_Missense_Mutation_p.W335R|GTF3C2_uc010eyz.1_Missense_Mutation_p.W335R|uc002rjy.1_RNA	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	335						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27676295	27676295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27676295G>A	uc002rku.2	-	35	3958	c.3907C>T	c.(3907-3909)CGA>TGA	p.R1303*	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1303	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27680796	27680796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27680796T>C	uc002rku.2	-	28	3074	c.3023A>G	c.(3022-3024)AAA>AGA	p.K1008R		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1008					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27682682	27682682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27682682G>A	uc002rku.2	-	24	2587	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	846					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800214	27800214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800214A>G	uc002rkz.3	+	1	826	c.775A>G	c.(775-777)ACT>GCT	p.T259A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	259										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28739692	28739692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28739692A>G	uc002rmb.1	+	2	73	c.73A>G	c.(73-75)ACC>GCC	p.T25A	PLB1_uc010ezj.1_Missense_Mutation_p.T25A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	25	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29287753	29287753	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29287753C>A	uc002rmt.1	-	2	3849	c.3849G>T	c.(3847-3849)CAG>CAT	p.Q1283H		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1283					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1																		---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29386758	29386758	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29386758T>C	uc002rmv.2	+	13	1835	c.1596T>C	c.(1594-1596)GGT>GGC	p.G532G	CLIP4_uc002rmu.2_Silent_p.G532G|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	532	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ALK	238	broad.mit.edu	37	2	29462672	29462672	+	Silent	SNP	G	A	A	rs111253753	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29462672G>A	uc002rmy.2	-	13	3136	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	743	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30381637	30381637	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30381637C>T	uc002rna.3	+	5	855	c.294C>T	c.(292-294)CGC>CGT	p.R98R	YPEL5_uc002rnb.3_Silent_p.R98R|YPEL5_uc002rnc.3_Silent_p.R98R|YPEL5_uc002rmz.3_Silent_p.R98R|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Silent_p.R98R	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	98							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
LCLAT1	253558	broad.mit.edu	37	2	30682536	30682536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30682536G>A	uc002rnj.2	+	2	267	c.58G>A	c.(58-60)GCA>ACA	p.A20T	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A20T|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_5'UTR	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	20					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2																		---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30957312	30957312	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30957312T>C	uc002rnn.2	-						CAPN13_uc002rnm.2_Intron	NM_144575	NP_653176			calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31562486	31562486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31562486A>G	uc002rnv.1	-	34	3722	c.3643T>C	c.(3643-3645)TCC>CCC	p.S1215P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1215					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
XDH	7498	broad.mit.edu	37	2	31588888	31588888	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31588888T>C	uc002rnv.1	-	22	2489	c.2410A>G	c.(2410-2412)ACC>GCC	p.T804A		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	804					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32417985	32417985	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32417985A>G	uc002roe.1	+	7	403	c.366_splice	c.e7-2	p.S122_splice	SLC30A6_uc002rof.1_Splice_Site_p.S162_splice|SLC30A6_uc010ymw.1_Splice_Site_p.S93_splice|SLC30A6_uc010ezr.1_Splice_Site_p.S122_splice|SLC30A6_uc002rog.1_Splice_Site|SLC30A6_uc010ezs.1_Splice_Site_p.S48_splice|SLC30A6_uc002roh.1_Splice_Site	NM_017964	NP_060434			solute carrier family 30 (zinc transporter),							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476209	32476209	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32476209T>G	uc002roi.2	-	4	970	c.724A>C	c.(724-726)AGG>CGG	p.R242R	NLRC4_uc002roj.1_Silent_p.R242R|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32694625	32694625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32694625C>T	uc010ezu.2	+	30	6424	c.6290C>T	c.(6289-6291)TCT>TTT	p.S2097F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2097					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32724640	32724640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32724640C>A	uc010ezu.2	+	46	8629	c.8495C>A	c.(8494-8496)CCT>CAT	p.P2832H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2832					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	33036137	33036137	+	Missense_Mutation	SNP	G	A	A	rs147021005		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33036137G>A	uc002rom.2	+	17	2276	c.2045G>A	c.(2044-2046)CGA>CAA	p.R682Q	TTC27_uc010ymx.1_Missense_Mutation_p.R632Q|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682							protein binding			central_nervous_system(1)	1																		---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589422	33589422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589422C>T	uc002ros.2	+	30	4542	c.4542C>T	c.(4540-4542)AAC>AAT	p.N1514N	LTBP1_uc002rot.2_Silent_p.N1188N|LTBP1_uc002rou.2_Silent_p.N1187N|LTBP1_uc002rov.2_Silent_p.N1134N|LTBP1_uc010ymz.1_Silent_p.N1145N|LTBP1_uc010yna.1_Silent_p.N1092N|LTBP1_uc010ynb.1_Silent_p.N411N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1513					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589423	33589423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589423G>A	uc002ros.2	+	30	4543	c.4543G>A	c.(4543-4545)GAA>AAA	p.E1515K	LTBP1_uc002rot.2_Missense_Mutation_p.E1189K|LTBP1_uc002rou.2_Missense_Mutation_p.E1188K|LTBP1_uc002rov.2_Missense_Mutation_p.E1135K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1146K|LTBP1_uc010yna.1_Missense_Mutation_p.E1093K|LTBP1_uc010ynb.1_Missense_Mutation_p.E412K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1514					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33810274	33810274	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33810274C>T	uc002rpa.1	-	8	1200	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	FAM98A_uc010yne.1_Missense_Mutation_p.G181R|FAM98A_uc010ynd.1_Missense_Mutation_p.G207R|FAM98A_uc002roz.1_Missense_Mutation_p.G214R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	377	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)																	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36764546	36764546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36764546C>T	uc002rpd.2	+	14	2519	c.2480C>T	c.(2479-2481)GCC>GTC	p.A827V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	827	Extracellular (Potential).|VWFC 6.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)																---	---	---	---
VIT	5212	broad.mit.edu	37	2	36982084	36982084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36982084G>A	uc002rpl.2	+	5	517	c.296G>A	c.(295-297)GGA>GAA	p.G99E	VIT_uc002rpk.2_Missense_Mutation_p.G92E|VIT_uc010ynf.1_Missense_Mutation_p.G92E|VIT_uc002rpm.2_Missense_Mutation_p.G92E|VIT_uc010ezv.2_Missense_Mutation_p.G92E|VIT_uc010ezw.2_Missense_Mutation_p.G92E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	99	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255304	37255304	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255304T>C	uc002rpp.1	-	24	3711	c.3615A>G	c.(3613-3615)GCA>GCG	p.A1205A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1205							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255956	37255956	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255956G>A	uc002rpp.1	-	23	3565	c.3469C>T	c.(3469-3471)CTA>TTA	p.L1157L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1157							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
SULT6B1	391365	broad.mit.edu	37	2	37402358	37402358	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37402358T>G	uc002rpu.2	-	5	448	c.427A>C	c.(427-429)AGG>CGG	p.R143R	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	181						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37442030	37442030	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37442030T>C	uc002rpz.2	-	9	2476	c.2446A>G	c.(2446-2448)AGG>GGG	p.R816G		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	816					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454697	37454697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454697C>T	uc002rpz.2	-	2	1669	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454859	37454859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454859C>T	uc002rpz.2	-	2	1507	c.1477G>A	c.(1477-1479)GCA>ACA	p.A493T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	493					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37459358	37459358	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37459358T>A	uc002rqa.3	+	2	240	c.165T>A	c.(163-165)GGT>GGA	p.G55G	CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.G55G|C2orf56_uc010ynk.1_Silent_p.G55G|C2orf56_uc010ynl.1_Silent_p.G55G	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	55					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37474636	37474636	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37474636C>T	uc002rqa.3	+	9	1049	c.974C>T	c.(973-975)GCC>GTC	p.A325V	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.A227V|C2orf56_uc010ynk.1_Missense_Mutation_p.A254V|C2orf56_uc010ynl.1_Missense_Mutation_p.A298V|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	325					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873127	37873127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37873127C>T	uc002rqi.1	-	2	1597	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	202					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)																---	---	---	---
SFRS7	6432	broad.mit.edu	37	2	38975244	38975244	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38975244A>T	uc002rqz.2	-	5	755	c.517T>A	c.(517-519)TCA>ACA	p.S173T	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S173T	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	173	3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)																---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39083499	39083499	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39083499G>A	uc002rrf.2	-	7	1791	c.1692C>T	c.(1690-1692)GTC>GTT	p.V564V	DHX57_uc002rrd.3_5'Flank|DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.V564V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	564	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)																---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222407	39222407	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39222407A>T	uc002rrk.3	-	20	3244	c.3203T>A	c.(3202-3204)ATC>AAC	p.I1068N	SOS1_uc002rrj.3_Missense_Mutation_p.I682N	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1068					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)												Noonan_syndrome				---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39481646	39481646	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39481646C>A	uc002rro.2	-	32	2577	c.2486G>T	c.(2485-2487)AGT>ATT	p.S829I	MAP4K3_uc002rrp.2_Missense_Mutation_p.S808I|MAP4K3_uc010yns.1_Missense_Mutation_p.S382I	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	829	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
EML4	27436	broad.mit.edu	37	2	42522632	42522632	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42522632C>T	uc002rsi.2	+	13	1727	c.1465C>T	c.(1465-1467)CCC>TCC	p.P489S	EML4_uc010fap.2_Missense_Mutation_p.P431S|EML4_uc002rsj.2_Missense_Mutation_p.P178S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	489	WD 4.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
KCNG3	170850	broad.mit.edu	37	2	42671387	42671387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42671387G>A	uc002rsn.2	-	2	1594	c.998C>T	c.(997-999)GCC>GTC	p.A333V	KCNG3_uc002rsm.2_Missense_Mutation_p.A322V	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	333	Helical; Name=Segment S5; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1																		---	---	---	---
HAAO	23498	broad.mit.edu	37	2	43015741	43015741	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43015741C>T	uc002rst.3	-	2	162	c.87G>A	c.(85-87)CAG>CAA	p.Q29Q	HAAO_uc010ynw.1_Silent_p.Q29Q	NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	29	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1																		---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44003961	44003961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44003961A>G	uc002rtk.2	+	2	145	c.49A>G	c.(49-51)AGG>GGG	p.R17G	DYNC2LI1_uc002rth.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rti.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R17G|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	17						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44104732	44104732	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44104732C>T	uc002rtq.2	+	12	1879	c.1789C>T	c.(1789-1791)CGG>TGG	p.R597W	ABCG8_uc010yoa.1_Missense_Mutation_p.R596W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	597	ABC transmembrane type-2.|Extracellular (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)														OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44436458	44436458	+	Missense_Mutation	SNP	G	A	A	rs74261788		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44436458G>A	uc002rtt.2	+	3	1384	c.956G>A	c.(955-957)CGG>CAG	p.R319Q	PPM1B_uc002rts.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtu.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtv.2_Missense_Mutation_p.R32Q|PPM1B_uc002rtw.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtx.2_Missense_Mutation_p.R319Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	319					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44445160	44445160	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44445160G>A	uc002rtt.2	+	4	1447	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H	PPM1B_uc002rtu.2_Missense_Mutation_p.R340H|PPM1B_uc002rtv.2_Missense_Mutation_p.R53H|PPM1B_uc002rtw.2_Missense_Mutation_p.R340H|PPM1B_uc002rtx.2_Missense_Mutation_p.R340H	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	340					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44539794	44539794	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44539794C>T	uc002ruc.3	+	8	1480	c.1402C>T	c.(1402-1404)CTT>TTT	p.L468F	SLC3A1_uc002rtz.2_Missense_Mutation_p.L468F|SLC3A1_uc002rua.2_Missense_Mutation_p.L468F|SLC3A1_uc002rub.2_Missense_Mutation_p.L468F|SLC3A1_uc002rud.3_Missense_Mutation_p.L190F|SLC3A1_uc002rue.3_Missense_Mutation_p.L88F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	468	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)													---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46605883	46605883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46605883G>A	uc002ruv.2	+	11	2019	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	511	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46608724	46608724	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46608724G>A	uc002ruv.2	+						EPAS1_uc002ruw.2_Intron	NM_001430	NP_001421			endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
CALM2	805	broad.mit.edu	37	2	47389439	47389439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47389439G>A	uc002rvt.2	-	4	429	c.271C>T	c.(271-273)CGT>TGT	p.R91C	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	91	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)													---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48032855	48032855	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48032855T>C	uc002rwd.3	+						MSH6_uc010fbj.2_Intron|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Intron	NM_000179	NP_000170			mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48045997	48045997	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48045997C>T	uc010fbl.2	-	16	1789	c.1675G>A	c.(1675-1677)GTT>ATT	p.V559I	FBXO11_uc002rwe.2_Missense_Mutation_p.V559I|FBXO11_uc002rwf.2_Missense_Mutation_p.V559I|FBXO11_uc002rwg.1_Missense_Mutation_p.V559I|FBXO11_uc010fbk.2_Missense_Mutation_p.V67I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	643	PbH1 11.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48049367	48049367	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48049367A>G	uc010fbl.2	-	13	1554	c.1440T>C	c.(1438-1440)AAT>AAC	p.N480N	FBXO11_uc002rwe.2_Silent_p.N480N|FBXO11_uc002rwf.2_Silent_p.N480N|FBXO11_uc002rwg.1_Silent_p.N480N|FBXO11_uc010fbk.2_Missense_Mutation_p.M20T	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	564	PbH1 8.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48063100	48063100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48063100T>C	uc010fbl.2	-	5	490	c.376A>G	c.(376-378)ATG>GTG	p.M126V	FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	210					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066614	48066614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48066614T>C	uc010fbl.2	-	3	248	c.134A>G	c.(133-135)AAC>AGC	p.N45S	FBXO11_uc002rwe.2_Missense_Mutation_p.N45S|FBXO11_uc002rwf.2_Missense_Mutation_p.N45S|FBXO11_uc002rwg.1_Missense_Mutation_p.N45S	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	129					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48681829	48681829	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48681829A>T	uc002rwm.2	+	3	407	c.222A>T	c.(220-222)GAA>GAT	p.E74D	KLRAQ1_uc002rwi.1_Missense_Mutation_p.E74D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.E74D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E28D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E74D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E74D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	74	Potential.									ovary(1)	1																		---	---	---	---
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808804	48808804	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48808804C>T	uc010yol.1	+	1	1079	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I	STON1_uc002rwo.3_Silent_p.I344I|STON1_uc010fbm.2_Silent_p.I344I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I344I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I344I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	344					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50850688	50850688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50850688G>A	uc010fbq.2	-	6	2474	c.997C>T	c.(997-999)CCC>TCC	p.P333S	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.P300S|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255150	51255150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:51255150G>A	uc010fbq.2	-	2	1739	c.262C>T	c.(262-264)CGC>TGC	p.R88C	NRXN1_uc002rxe.3_Missense_Mutation_p.R88C|NRXN1_uc002rxd.1_Missense_Mutation_p.R88C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53956630	53956630	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53956630A>G	uc002rxg.1	-	4	568	c.433T>C	c.(433-435)TGT>CGT	p.C145R	ASB3_uc002rxh.1_Missense_Mutation_p.C72R|ASB3_uc002rxi.3_Missense_Mutation_p.C183R|ASB3_uc010yoo.1_Intron	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	145	ANK 5.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54028595	54028595	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54028595G>A	uc002rxl.2	+	7	867	c.587G>A	c.(586-588)GGT>GAT	p.G196D	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.G196D|ERLEC1_uc002rxn.2_Missense_Mutation_p.G196D	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	196					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2																		---	---	---	---
ASB3	51130	broad.mit.edu	37	2	54040075	54040075	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54040075T>C	uc002rxi.3	-						ERLEC1_uc002rxl.2_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Intron	NM_001164165	NP_001157637			hypothetical protein LOC100302652						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
GPR75	10936	broad.mit.edu	37	2	54080358	54080358	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54080358A>G	uc002rxo.3	-	2	1807	c.1536T>C	c.(1534-1536)TAT>TAC	p.Y512Y	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	512	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54117289	54117289	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54117289A>T	uc002rxp.2	-	37	4304	c.4248T>A	c.(4246-4248)ATT>ATA	p.I1416I	PSME4_uc010yop.1_Silent_p.I1302I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.I791I|PSME4_uc010fbv.1_Silent_p.I560I|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54163234	54163234	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54163234T>A	uc002rxp.2	-	7	880	c.824A>T	c.(823-825)TAT>TTT	p.Y275F	PSME4_uc010yop.1_Missense_Mutation_p.Y161F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482364	54482364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482364T>A	uc002rxr.2	-	1	1046	c.925A>T	c.(925-927)ATT>TTT	p.I309F	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	309					nucleosome assembly	nucleus					0																		---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482753	54482753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482753G>A	uc002rxr.2	-	1	657	c.536C>T	c.(535-537)GCA>GTA	p.A179V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	179					nucleosome assembly	nucleus					0																		---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55561385	55561385	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55561385T>A	uc002ryv.2	-	15	3414	c.2572A>T	c.(2572-2574)AAG>TAG	p.K858*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.K760*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.K141*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.K141*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	858	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---
CCDC104	112942	broad.mit.edu	37	2	55756032	55756032	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55756032T>C	uc002ryy.2	+	4	499	c.301T>C	c.(301-303)TTG>CTG	p.L101L	CCDC104_uc002ryx.2_Silent_p.L126L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	101										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55863427	55863427	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55863427C>G	uc002rzf.2	-	28	2350	c.2297G>C	c.(2296-2298)AGA>ACA	p.R766T	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	766					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56108868	56108868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56108868G>A	uc002rzh.2	-	5	849	c.519C>T	c.(517-519)GAC>GAT	p.D173D	EFEMP1_uc002rzi.2_Silent_p.D173D|EFEMP1_uc002rzj.2_Silent_p.D173D|EFEMP1_uc010ypc.1_Silent_p.D115D	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	173	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144864	56144864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144864G>A	uc002rzh.2	-	4	783	c.453C>T	c.(451-453)TCC>TCT	p.S151S	EFEMP1_uc002rzi.2_Silent_p.S151S|EFEMP1_uc002rzj.2_Silent_p.S151S|EFEMP1_uc010ypc.1_Silent_p.S93S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	151					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144942	56144942	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144942G>A	uc002rzh.2	-	4	705	c.375C>T	c.(373-375)GTC>GTT	p.V125V	EFEMP1_uc002rzi.2_Silent_p.V125V|EFEMP1_uc002rzj.2_Silent_p.V125V|EFEMP1_uc010ypc.1_Silent_p.V67V	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	125					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58386904	58386904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58386904T>C	uc002rzw.3	-	14	1191	c.1124A>G	c.(1123-1125)CAC>CGC	p.H375R	VRK2_uc002rzo.2_3'UTR|VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_3'UTR|VRK2_uc002rzv.2_3'UTR|VRK2_uc010fcd.2_3'UTR|VRK2_uc002rzp.2_3'UTR|VRK2_uc010ypg.1_3'UTR|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_3'UTR|FANCL_uc002rzx.3_Missense_Mutation_p.H380R|FANCL_uc010fce.2_Missense_Mutation_p.H347R	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	375					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58392975	58392975	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58392975G>C	uc002rzw.3	-	8	642	c.575C>G	c.(574-576)GCA>GGA	p.A192G	FANCL_uc002rzx.3_Missense_Mutation_p.A197G|FANCL_uc010fce.2_Missense_Mutation_p.A192G|FANCL_uc010fcf.1_Missense_Mutation_p.A133G	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	192					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
REL	5966	broad.mit.edu	37	2	61145339	61145339	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61145339T>C	uc002sam.1	+	6	773	c.549T>C	c.(547-549)ACT>ACC	p.T183T	REL_uc002san.1_Silent_p.T183T	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	183	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)					A		Hodgkin Lymphoma								---	---	---	---
USP34	9736	broad.mit.edu	37	2	61475803	61475803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61475803T>C	uc002sbe.2	-	49	6259	c.6237A>G	c.(6235-6237)AAA>AAG	p.K2079K	USP34_uc002sbf.2_Silent_p.K229K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2079					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575064	61575064	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61575064T>A	uc002sbe.2	-	15	2248	c.2226A>T	c.(2224-2226)CGA>CGT	p.R742R		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	742					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61607407	61607407	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61607407A>T	uc002sbe.2	-	7	933	c.911T>A	c.(910-912)TTG>TAG	p.L304*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	304					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719260	61719260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719260G>A	uc002sbj.2	-	16	2525	c.1797C>T	c.(1795-1797)TTC>TTT	p.F599F	XPO1_uc010fcl.2_Silent_p.F595F|XPO1_uc010ypn.1_Silent_p.F595F|XPO1_uc002sbk.2_Silent_p.F160F|XPO1_uc002sbh.2_Silent_p.F246F	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	599	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719733	61719733	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719733T>C	uc002sbj.2	-	14	2263	c.1535A>G	c.(1534-1536)GAC>GGC	p.D512G	XPO1_uc010fcl.2_Missense_Mutation_p.D508G|XPO1_uc010ypn.1_Missense_Mutation_p.D508G|XPO1_uc002sbk.2_Missense_Mutation_p.D73G|XPO1_uc002sbh.2_Missense_Mutation_p.D159G	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	512	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61722717	61722717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61722717G>A	uc002sbj.2	-	11	1648	c.920C>T	c.(919-921)GCG>GTG	p.A307V	XPO1_uc010fcl.2_Missense_Mutation_p.A303V|XPO1_uc010ypn.1_Missense_Mutation_p.A303V|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	307	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63170997	63170997	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63170997T>C	uc002sby.2	+						EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067			EH domain binding protein 1 isoform 1							cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)											Hereditary_Prostate_Cancer				---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63280175	63280175	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63280175T>G	uc002scd.2	+	3	298	c.50T>G	c.(49-51)CTG>CGG	p.L17R	OTX1_uc010ypt.1_5'UTR	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)																	---	---	---	---
C2orf86	51057	broad.mit.edu	37	2	63712103	63712103	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63712103G>A	uc002sch.2	-	5	718	c.272C>T	c.(271-273)ACG>ATG	p.T91M	C2orf86_uc002sci.1_Missense_Mutation_p.T67M|C2orf86_uc010fcr.1_5'Flank	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	91					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0																		---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64114742	64114742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64114742A>G	uc002scm.2	+	8	1584	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	UGP2_uc002scl.2_Silent_p.T415T|UGP2_uc010ypx.1_Silent_p.T435T	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	426					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778626	64778626	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64778626T>G	uc002sdc.2	+	1	50	c.18T>G	c.(16-18)ATT>ATG	p.I6M	AFTPH_uc002scz.2_Missense_Mutation_p.I6M|AFTPH_uc002sda.2_Missense_Mutation_p.I6M|AFTPH_uc002sdb.2_Missense_Mutation_p.I6M	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	6					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64796799	64796799	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64796799T>C	uc002sdc.2	+	4	2289	c.2257T>C	c.(2257-2259)TAT>CAT	p.Y753H	AFTPH_uc002scz.2_Missense_Mutation_p.Y753H|AFTPH_uc002sda.2_Missense_Mutation_p.Y753H|AFTPH_uc002sdb.2_Missense_Mutation_p.Y753H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	753					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67630573	67630573	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:67630573G>A	uc002sdz.1	+	5	898	c.759G>A	c.(757-759)AAG>AAA	p.K253K		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	253						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4																		---	---	---	---
PNO1	56902	broad.mit.edu	37	2	68385539	68385539	+	Missense_Mutation	SNP	C	G	G	rs150153986	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68385539C>G	uc002seh.2	+	2	297	c.235C>G	c.(235-237)CCA>GCA	p.P79A	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	79						nucleolus	RNA binding				0																		---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68620387	68620387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68620387T>C	uc002sen.3	+						PLEK_uc010fde.2_Intron	NM_002664	NP_002655			pleckstrin						actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)														---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69009410	69009410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69009410A>G	uc002seu.2	+	3	671	c.307A>G	c.(307-309)AAC>GAC	p.N103D	ARHGAP25_uc010yqk.1_Missense_Mutation_p.N77D|ARHGAP25_uc010fdg.2_Missense_Mutation_p.N103D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N103D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N96D|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	103	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69049650	69049650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69049650G>A	uc002seu.2	+	10	1740	c.1376G>A	c.(1375-1377)AGC>AAC	p.S459N	ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460N|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420N|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452N|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453N|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186N	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093458	69093458	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093458T>C	uc002sez.1	-	2	739	c.580A>G	c.(580-582)ACC>GCC	p.T194A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	194					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093671	69093671	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093671G>C	uc002sez.1	-	2	526	c.367C>G	c.(367-369)CTC>GTC	p.L123V		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	123					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69300209	69300209	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69300209T>A	uc002sfg.2	+	6	824	c.468T>A	c.(466-468)GAT>GAA	p.D156E	ANTXR1_uc002sfe.2_Missense_Mutation_p.D156E|ANTXR1_uc002sff.2_Missense_Mutation_p.D156E|ANTXR1_uc002sfd.2_Missense_Mutation_p.D156E	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	156	Extracellular (Potential).|Interaction with PA.|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69379379	69379379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69379379C>T	uc002sfg.2	+	13	1386	c.1030C>T	c.(1030-1032)CCC>TCC	p.P344S	ANTXR1_uc002sff.2_Missense_Mutation_p.P344S	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	344	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69708009	69708009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69708009A>G	uc002sfp.2	-	19	3057	c.2552T>C	c.(2551-2553)GTG>GCG	p.V851A		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	851						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408456	70408456	+	Missense_Mutation	SNP	C	T	T	rs139242568		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408456C>T	uc002sgh.2	-	3	990	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	221											0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408477	70408477	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408477C>A	uc002sgh.2	-	3	969	c.641G>T	c.(640-642)GGC>GTC	p.G214V		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	214											0																		---	---	---	---
ADD2	119	broad.mit.edu	37	2	70890850	70890850	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70890850C>T	uc002sgz.2	-	16	2353	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E324K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71036894	71036894	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71036894T>C	uc002shf.2	-	6	1712	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	CLEC4F_uc010yqv.1_Silent_p.P545P	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	545	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71625868	71625868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71625868A>G	uc002shx.2	+	12	2785	c.2466A>G	c.(2464-2466)GTA>GTG	p.V822V	ZNF638_uc010yqw.1_Silent_p.V401V|ZNF638_uc002shy.2_Silent_p.V822V|ZNF638_uc002shz.2_Silent_p.V822V|ZNF638_uc002sia.2_Silent_p.V822V|ZNF638_uc002sib.1_Silent_p.V822V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	822					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71660407	71660407	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71660407T>A	uc002shx.2	+	27	6184	c.5865T>A	c.(5863-5865)AAT>AAA	p.N1955K	ZNF638_uc002shy.2_Missense_Mutation_p.N1955K|ZNF638_uc002shz.2_Missense_Mutation_p.N1934K|ZNF638_uc002sia.2_Missense_Mutation_p.N1955K|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.N1052K|ZNF638_uc002sid.2_Missense_Mutation_p.N324K	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1955	Matrin-type.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71681161	71681161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71681161C>T	uc002sie.2	+	1	409	c.33C>T	c.(31-33)AAC>AAT	p.N11N	DYSF_uc010feg.2_Silent_p.N11N|DYSF_uc010feh.2_Silent_p.N11N|DYSF_uc002sig.3_Silent_p.N11N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.N11N|DYSF_uc010fef.2_Silent_p.N11N|DYSF_uc010fei.2_Silent_p.N11N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	11	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71795459	71795459	+	Missense_Mutation	SNP	C	T	T	rs150717638		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71795459C>T	uc002sie.2	+	26	3177	c.2801C>T	c.(2800-2802)CCG>CTG	p.P934L	DYSF_uc010feg.2_Missense_Mutation_p.P965L|DYSF_uc010feh.2_Missense_Mutation_p.P920L|DYSF_uc002sig.3_Missense_Mutation_p.P920L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P934L|DYSF_uc010fef.2_Missense_Mutation_p.P951L|DYSF_uc010fei.2_Missense_Mutation_p.P951L|DYSF_uc010fek.2_Missense_Mutation_p.P952L|DYSF_uc010fej.2_Missense_Mutation_p.P921L|DYSF_uc010fel.2_Missense_Mutation_p.P921L|DYSF_uc010feo.2_Missense_Mutation_p.P966L|DYSF_uc010fem.2_Missense_Mutation_p.P935L|DYSF_uc010fen.2_Missense_Mutation_p.P952L|DYSF_uc002sif.2_Missense_Mutation_p.P935L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	934	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71891479	71891479	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71891479C>T	uc002sie.2	+	45	5344	c.4968C>T	c.(4966-4968)GAC>GAT	p.D1656D	DYSF_uc010feg.2_Silent_p.D1687D|DYSF_uc010feh.2_Silent_p.D1663D|DYSF_uc002sig.3_Silent_p.D1642D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D1677D|DYSF_uc010fef.2_Silent_p.D1694D|DYSF_uc010fei.2_Silent_p.D1673D|DYSF_uc010fek.2_Silent_p.D1674D|DYSF_uc010fej.2_Silent_p.D1664D|DYSF_uc010fel.2_Silent_p.D1643D|DYSF_uc010feo.2_Silent_p.D1688D|DYSF_uc010fem.2_Silent_p.D1678D|DYSF_uc010fen.2_Silent_p.D1695D|DYSF_uc002sif.2_Silent_p.D1657D|DYSF_uc010yqy.1_Silent_p.D537D|DYSF_uc010yqz.1_Silent_p.D417D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1656	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72371112	72371112	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72371112T>C	uc002sih.1	-						CYP26B1_uc010yra.1_Intron|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938			cytochrome P450, family 26, subfamily b,						cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73476280	73476280	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73476280T>G	uc002siz.2	+	8	1047	c.945T>G	c.(943-945)CCT>CCG	p.P315P	CCT7_uc002sja.2_Silent_p.P111P|CCT7_uc010yrf.1_Silent_p.P271P|CCT7_uc010feu.2_Silent_p.P273P|CCT7_uc010yrg.1_Silent_p.P215P|CCT7_uc010yrh.1_Silent_p.P187P|CCT7_uc010yri.1_Silent_p.P228P	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	315					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0																		---	---	---	---
EGR4	1961	broad.mit.edu	37	2	73519364	73519364	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73519364C>T	uc010yrj.1	-	2	1066	c.991G>A	c.(991-993)GCC>ACC	p.A331T	EGR4_uc010yrk.1_Missense_Mutation_p.A330T	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	227						intracellular	nucleic acid binding|zinc ion binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73646321	73646321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73646321G>T	uc002sje.1	+	4	635	c.524G>T	c.(523-525)AGG>ATG	p.R175M	ALMS1_uc002sjf.1_Missense_Mutation_p.R132M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	174					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73679769	73679769	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73679769C>A	uc002sje.1	+	10	6229	c.6118C>A	c.(6118-6120)CCA>ACA	p.P2040T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1996T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1426T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1426T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2038	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717072	73717072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717072C>A	uc002sje.1	+	12	8100	c.7989C>A	c.(7987-7989)TTC>TTA	p.F2663L	ALMS1_uc002sjf.1_Missense_Mutation_p.F2619L|ALMS1_uc002sjg.2_Missense_Mutation_p.F2049L|ALMS1_uc002sjh.1_Missense_Mutation_p.F2049L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2661					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717193	73717193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717193C>T	uc002sje.1	+	12	8221	c.8110C>T	c.(8110-8112)CCG>TCG	p.P2704S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2660S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2090S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2090S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2702					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717520	73717520	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717520T>G	uc002sje.1	+	12	8548	c.8437T>G	c.(8437-8439)TTA>GTA	p.L2813V	ALMS1_uc002sjf.1_Missense_Mutation_p.L2769V|ALMS1_uc002sjg.2_Missense_Mutation_p.L2199V|ALMS1_uc002sjh.1_Missense_Mutation_p.L2199V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2811					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74452027	74452027	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74452027T>C	uc002sko.1	-	24	3236	c.3234A>G	c.(3232-3234)AAA>AAG	p.K1078K	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.K1062K|SLC4A5_uc010ffc.1_Silent_p.K981K|SLC4A5_uc002skp.1_Silent_p.K960K|SLC4A5_uc002sks.1_Missense_Mutation_p.K970R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	1078	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74482997	74482997	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74482997G>A	uc002sko.1	-	8	932	c.930C>T	c.(928-930)GGC>GGT	p.G310G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G310G|SLC4A5_uc010ffc.1_Silent_p.G310G|SLC4A5_uc002skp.1_Silent_p.G246G|SLC4A5_uc002sks.1_Silent_p.G310G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	310	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74489328	74489328	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74489328G>A	uc002sko.1	-	6	749	c.747C>T	c.(745-747)GGC>GGT	p.G249G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G249G|SLC4A5_uc010ffc.1_Silent_p.G249G|SLC4A5_uc002skp.1_Silent_p.G185G|SLC4A5_uc002sks.1_Silent_p.G249G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	249	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652568	74652568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74652568T>C	uc002slb.2	+	9	883	c.823T>C	c.(823-825)TTT>CTT	p.F275L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	275	WD 4.										0																		---	---	---	---
AUP1	550	broad.mit.edu	37	2	74754634	74754634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74754634G>A	uc010yrx.1	-	8	1222	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.P42S|AUP1_uc002smf.2_Missense_Mutation_p.P309S|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.P218S|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	375	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0																		---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74759794	74759794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74783646	74783646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74783646G>A	uc002sms.2	+	5	873	c.851G>A	c.(850-852)GGC>GAC	p.G284D	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G145D|DOK1_uc010ffo.2_Missense_Mutation_p.G145D|DOK1_uc002smt.2_Missense_Mutation_p.G70D|DOK1_uc002smu.2_Missense_Mutation_p.G70D|DOK1_uc010yrz.1_Missense_Mutation_p.G273D|DOK1_uc002smv.2_Missense_Mutation_p.G145D|DOK1_uc002smw.1_Missense_Mutation_p.G70D	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	284	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0																		---	---	---	---
C2orf65	130951	broad.mit.edu	37	2	74789369	74789369	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74789369T>G	uc002smy.2	-	8	1373	c.1256A>C	c.(1255-1257)CAT>CCT	p.H419P	C2orf65_uc010ysa.1_Missense_Mutation_p.H419P|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.H175P	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	419					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74883728	74883728	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74883728T>C	uc002sna.1	+	2	324	c.213T>C	c.(211-213)GAT>GAC	p.D71D	SEMA4F_uc010ysb.1_Silent_p.D71D|SEMA4F_uc010ffq.1_Silent_p.D71D|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.D71D	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	71	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
HK2	3099	broad.mit.edu	37	2	75101407	75101407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75101407G>A	uc002snd.2	+	7	2632	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	236	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
FAM176A	84141	broad.mit.edu	37	2	75720435	75720435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75720435C>T	uc002sni.2	-	4	864	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FAM176A_uc002snj.1_Missense_Mutation_p.R116H|FAM176A_uc002snk.1_Missense_Mutation_p.R129H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	129					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0																		---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349971	79349971	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79349971G>A	uc002snz.2	+	5	429	c.326G>A	c.(325-327)CGC>CAC	p.R109H	REG1A_uc010ysd.1_Missense_Mutation_p.R109H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	109	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0																		---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136866	80136866	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80136866G>A	uc010ysh.1	+	6	1004	c.999G>A	c.(997-999)GCG>GCA	p.A333A	CTNNA2_uc010yse.1_Silent_p.A333A|CTNNA2_uc010ysf.1_Silent_p.A333A|CTNNA2_uc010ysg.1_Silent_p.A333A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	333					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529659	80529659	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529659A>T	uc002sok.1	-	2	1556	c.1286T>A	c.(1285-1287)GTC>GAC	p.V429D	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	429	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529813	80529813	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529813C>T	uc002sok.1	-	2	1402	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	378	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530105	80530105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530105C>T	uc002sok.1	-	2	1110	c.840G>A	c.(838-840)CCG>CCA	p.P280P	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	280	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530309	80530309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530309G>A	uc002sok.1	-	2	906	c.636C>T	c.(634-636)ACC>ACT	p.T212T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	212	LRR 6.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530481	80530481	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530481T>C	uc002sok.1	-	2	734	c.464A>G	c.(463-465)GAC>GGC	p.D155G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	155	LRR 3.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530587	80530587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530587G>A	uc002sok.1	-	2	628	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	120	LRR 2.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80801432	80801432	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80801432T>C	uc010ysh.1	+	12	1891	c.1886T>C	c.(1885-1887)ATG>ACG	p.M629T	CTNNA2_uc010yse.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M261T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	629					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85553786	85553786	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85553786C>T	uc010fgd.1	-	2	1358	c.1069G>A	c.(1069-1071)GGG>AGG	p.G357R	TGOLN2_uc002soz.2_Missense_Mutation_p.G357R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.G299R|TGOLN2_uc002spc.1_Missense_Mutation_p.G357R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	357	Extracellular (Potential).					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85892879	85892879	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85892879T>C	uc002sqh.2	-	5	438	c.432A>G	c.(430-432)AAA>AAG	p.K144K	SFTPB_uc002sqi.2_Silent_p.K156K|SFTPB_uc002sqj.2_Silent_p.K144K	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	144	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85894843	85894843	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85894843G>T	uc002sqh.2	-	2	160	c.154C>A	c.(154-156)CTA>ATA	p.L52I	SFTPB_uc002sqi.2_Missense_Mutation_p.L64I|SFTPB_uc002sqj.2_Missense_Mutation_p.L52I	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	52	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86280054	86280054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86280054C>T	uc002sqs.2	-	16	2657	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	POLR1A_uc010ytb.1_Missense_Mutation_p.G126S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	760					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352157	86352157	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352157A>G	uc002sqw.2	+	10	822	c.756A>G	c.(754-756)CCA>CCG	p.P252P	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	252						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352159	86352159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352159A>G	uc002sqw.2	+	10	824	c.758A>G	c.(757-759)GAG>GGG	p.E253G	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	253						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
CD8B	926	broad.mit.edu	37	2	87042828	87042828	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87042828C>A	uc002srw.2	-	6	684	c.634G>T	c.(634-636)GGT>TGT	p.G212C	RMND5A_uc002srs.3_Intron|CD8B_uc002srx.2_3'UTR|CD8B_uc002sry.2_Missense_Mutation_p.G182C|CD8B_uc010fgt.2_Missense_Mutation_p.K169N	NM_172213	NP_757362	P10966	CD8B_HUMAN	CD8b antigen isoform 2 precursor	Error:Variant_position_missing_in_P10966_after_alignment					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			upper_aerodigestive_tract(1)|skin(1)	2																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88384012	88384012	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88384012G>C	uc002ssr.2	+	2	316	c.314_splice	c.e2+1	p.R105_splice	SMYD1_uc002ssq.1_Intron	NM_198274	NP_938015			SET and MYND domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88390634	88390634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88390634A>G	uc002ssr.2	+	4	634	c.632A>G	c.(631-633)AAC>AGC	p.N211S	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425860	88425860	+	Silent	SNP	C	T	T	rs145520267	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88425860C>T	uc002sst.1	-	2	117	c.75G>A	c.(73-75)CCG>CCA	p.P25P	FABP1_uc002ssu.2_Silent_p.P25P	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	25					organ morphogenesis						0																		---	---	---	---
C2orf51	200523	broad.mit.edu	37	2	88828944	88828944	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88828944G>T	uc002stb.1	+	4	637	c.495G>T	c.(493-495)AAG>AAT	p.K165N		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	165						nucleus				skin(1)	1																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874529	88874529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88874529A>G	uc002stc.3	-	13	2674	c.2472T>C	c.(2470-2472)ACT>ACC	p.T824T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	824	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88885468	88885468	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88885468T>A	uc002stc.3	-	9	1743	c.1541A>T	c.(1540-1542)GAT>GTT	p.D514V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	514	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88887627	88887627	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88887627A>C	uc002stc.3	-							NM_004836	NP_004827			eukaryotic translation initiation factor 2-alpha						activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89156937	89156937	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89156937G>A	uc010ytr.1	-	243		c.9988C>T			uc002sti.1_RNA|uc002stj.1_RNA					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89309537	89309537	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89309537C>T	uc010ytr.1	-	74		c.6810G>A			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89326709C>A	uc010ytr.1	-	68		c.6469G>T			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	90199033	90199033	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90199033C>T	uc010fhm.2	+	24		c.3164C>T								Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	90199197	90199197	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90199197G>T	uc010fhm.2	+	24		c.3326_splice	c.e24+2							Parts of antibodies, mostly variable regions.																														---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95753091	95753091	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95753091G>T	uc002sub.2	-	12					MRPS5_uc002suc.2_RNA	NM_031902	NP_114108			mitochondrial ribosomal protein S5						translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818505	95818505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818505A>G	uc002sue.1	-	4	505	c.131T>C	c.(130-132)GTA>GCA	p.V44A	ZNF514_uc002sud.1_Missense_Mutation_p.V117A	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818523	95818523	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818523A>G	uc002sue.1	-						ZNF514_uc002sud.1_Intron	NM_032788	NP_116177			zinc finger protein 514						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF2	7549	broad.mit.edu	37	2	95847534	95847534	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95847534A>G	uc002suf.2	+	6	1420	c.958A>G	c.(958-960)AAA>GAA	p.K320E	ZNF2_uc002sug.2_Missense_Mutation_p.K278E|ZNF2_uc010yue.1_Missense_Mutation_p.K283E|ZNF2_uc010fhs.2_Missense_Mutation_p.K241E	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	320	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)														---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95947020	95947020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95947020A>G	uc002suh.1	+	12	1591	c.1458A>G	c.(1456-1458)GCA>GCG	p.A486A	PROM2_uc002sui.2_Silent_p.A486A|PROM2_uc002suj.2_Silent_p.A140A|PROM2_uc002suk.2_Silent_p.A486A|PROM2_uc002sul.2_Silent_p.A12A|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	486	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1																		---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781266	96781266	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96781266C>A	uc002svi.2	-	1	623	c.623G>T	c.(622-624)AGG>ATG	p.R208M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	208	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96920595	96920595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96920595A>G	uc002svq.2	-	3	642	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	TMEM127_uc002svr.2_Missense_Mutation_p.Y129H	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	129					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0														Pheochromocytoma_(Adrenal)_Familial				---	---	---	---
LMAN2L	81562	broad.mit.edu	37	2	97377612	97377612	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97377612T>A	uc002swu.2	-	5	694	c.658A>T	c.(658-660)AGG>TGG	p.R220W	LMAN2L_uc002swv.2_Missense_Mutation_p.R231W|LMAN2L_uc010yut.1_Missense_Mutation_p.R86W|LMAN2L_uc010yuu.1_Missense_Mutation_p.R84W|LMAN2L_uc010yuv.1_Missense_Mutation_p.R73W|LMAN2L_uc010yuw.1_Missense_Mutation_p.R75W|LMAN2L_uc002sww.2_Missense_Mutation_p.R73W|LMAN2L_uc010yux.1_Missense_Mutation_p.R75W	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	220	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97490873	97490873	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97490873T>A	uc002swy.2	+	2	1328	c.1304T>A	c.(1303-1305)GTC>GAC	p.V435D	CNNM3_uc002swz.2_Intron	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	435	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97493602	97493602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97493602A>G	uc002swy.2	+	4	1678	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G	CNNM3_uc002swz.2_Missense_Mutation_p.S504G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	552					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97527061	97527061	+	Missense_Mutation	SNP	A	T	T	rs142553481	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97527061A>T	uc002sxh.3	-	15	1964	c.1804T>A	c.(1804-1806)TCC>ACC	p.S602T	SEMA4C_uc002sxf.3_Missense_Mutation_p.S102T|SEMA4C_uc002sxe.2_Missense_Mutation_p.S143T|SEMA4C_uc002sxg.3_Missense_Mutation_p.S655T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	602	Extracellular (Potential).|Ig-like C2-type.			S -> T (in Ref. 1; AAQ89201).	muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98162180	98162180	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98162180A>G	uc010yvc.1	-	24	1910	c.1630T>C	c.(1630-1632)TCT>CCT	p.S544P		NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	544											0																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98175328	98175328	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98175328T>C	uc010yvc.1	-	10	1181	c.901A>G	c.(901-903)AGT>GGT	p.S301G	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	301											0																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275349	98275349	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275349G>T	uc002syb.2	-	5	641	c.433C>A	c.(433-435)CTC>ATC	p.L145I		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	145						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275934	98275934	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275934G>A	uc002syb.2	-	4	404	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	66						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99778419	99778419	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99778419G>A	uc002szm.3	+	4	340	c.0_splice	c.e4-1		MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Splice_Site|LIPT1_uc002szo.3_Splice_Site|LIPT1_uc002szp.3_Splice_Site|LIPT1_uc002szq.3_Splice_Site|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199			lipoyltransferase 1 precursor						lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)													---	---	---	---
LYG1	129530	broad.mit.edu	37	2	99908989	99908989	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99908989T>C	uc002szy.2	-						MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Intron	NM_174898	NP_777558			lysozyme g-like protein 1 precursor						cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0																		---	---	---	---
TXNDC9	10190	broad.mit.edu	37	2	99944055	99944055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99944055T>C	uc002szz.2	-	3	442	c.251A>G	c.(250-252)CAA>CGA	p.Q84R	TXNDC9_uc010yvp.1_Missense_Mutation_p.Q101R|TXNDC9_uc002taa.1_Missense_Mutation_p.Q84R	NM_005783	NP_005774	O14530	TXND9_HUMAN	thioredoxin domain containing 9	84	Thioredoxin.				cell redox homeostasis		protein binding				0																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101584868	101584868	+	Missense_Mutation	SNP	G	A	A	rs143509936		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101584868G>A	uc002tap.1	+	11	1319	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M	NPAS2_uc010yvt.1_Missense_Mutation_p.V410M	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	345	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101591290	101591290	+	Missense_Mutation	SNP	G	A	A	rs77601858	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101591290G>A	uc002tap.1	+	13	1452	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	NPAS2_uc010yvt.1_Missense_Mutation_p.R454Q|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	389					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102490623	102490623	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102490623T>A	uc002tbg.2	+	23	2770	c.2715T>A	c.(2713-2715)AAT>AAA	p.N905K	MAP4K4_uc002tbc.2_Missense_Mutation_p.N986K|MAP4K4_uc002tbd.2_Missense_Mutation_p.N878K|MAP4K4_uc002tbe.2_Missense_Mutation_p.N824K|MAP4K4_uc002tbf.2_Missense_Mutation_p.N939K|MAP4K4_uc010yvy.1_Missense_Mutation_p.N901K|MAP4K4_uc002tbh.2_Missense_Mutation_p.N823K|MAP4K4_uc002tbi.2_Missense_Mutation_p.N708K|MAP4K4_uc010yvz.1_Missense_Mutation_p.N945K|MAP4K4_uc002tbk.2_Missense_Mutation_p.N360K|MAP4K4_uc002tbl.2_Missense_Mutation_p.N91K	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	905	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842390	102842390	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102842390C>A	uc002tbs.2	+	9	1150	c.1024C>A	c.(1024-1026)CTT>ATT	p.L342I	IL1RL2_uc002tbt.2_Missense_Mutation_p.L224I	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	342	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102851656	102851656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102851656A>G	uc002tbs.2	+	11	1723	c.1597A>G	c.(1597-1599)AGA>GGA	p.R533G	IL1RL2_uc002tbt.2_Missense_Mutation_p.R415G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	533	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102955465	102955465	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102955465C>T	uc002tbu.1	+	3	501	c.230C>T	c.(229-231)GCT>GTT	p.A77V	IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.A77V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	77	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	103010928	103010928	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103010928G>A	uc002tbw.3	+	10	1262	c.1112_splice	c.e10-1	p.D371_splice	IL18R1_uc010ywc.1_Splice_Site_p.D370_splice|IL18R1_uc010ywd.1_Splice_Site_p.D215_splice|IL18R1_uc010fiy.2_Splice_Site_p.D371_splice	NM_003855	NP_003846			interleukin 18 receptor 1 precursor						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040692	103040692	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103040692A>C	uc002tbx.2	+	5	881	c.397A>C	c.(397-399)AGC>CGC	p.S133R	IL18RAP_uc010fiz.2_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103090419	103090419	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103090419G>A	uc002tbz.3	+	1	658	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	67	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103121821	103121821	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103121821G>C	uc002tbz.3	+	4	1546	c.1089G>C	c.(1087-1089)GAG>GAC	p.E363D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	363	Helical; Name=J/M8; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103130670	103130670	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103130670A>G	uc002tbz.3	+	8	2138	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	561	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106690348	106690348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106690348T>C	uc010fjf.2	+	3	242	c.134T>C	c.(133-135)GTT>GCT	p.V45A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	45						extracellular region|transport vesicle					0																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106694242	106694242	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106694242T>G	uc010fjf.2	+	4	415	c.307T>G	c.(307-309)TAT>GAT	p.Y103D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	103						extracellular region|transport vesicle					0																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109371632	109371632	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109371632T>A	uc002tem.3	+	17	2509	c.2383T>A	c.(2383-2385)TAT>AAT	p.Y795N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	795					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109379876	109379876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109379876T>C	uc002tem.3	+	20	3007	c.2881T>C	c.(2881-2883)TAC>CAC	p.Y961H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380767	109380767	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380767G>A	uc002tem.3	+	20	3898	c.3772G>A	c.(3772-3774)GCT>ACT	p.A1258T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1258	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380996	109380996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380996T>C	uc002tem.3	+	20	4127	c.4001T>C	c.(4000-4002)ATT>ACT	p.I1334T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1334					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109399324	109399324	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109399324T>C	uc002tem.3	+							NM_006267	NP_006258			RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109526978	109526978	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109526978C>T	uc002teq.3	-	9	1172	c.741G>A	c.(739-741)GTG>GTA	p.V247V	EDAR_uc010fjn.2_Silent_p.V279V|EDAR_uc010yws.1_Silent_p.V279V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	247	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ANKRD57	65124	broad.mit.edu	37	2	110373498	110373498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:110373498A>G	uc002tfb.2	+	1	1588	c.1432A>G	c.(1432-1434)AGA>GGA	p.R478G	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	478											0																		---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111551648	111551648	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111551648T>C	uc002tgr.3	+						ACOXL_uc010fkc.2_Intron|ACOXL_uc010yxk.1_Intron	NM_001105516	NP_001098986			acyl-Coenzyme A oxidase-like 2						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112751930	112751930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112751930G>A	uc002thk.1	+	9	1521	c.1399G>A	c.(1399-1401)GGG>AGG	p.G467R	MERTK_uc002thl.1_Missense_Mutation_p.G291R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	467	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113089388	113089388	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113089388C>G	uc002thq.1	+	12	3287	c.2893C>G	c.(2893-2895)CTA>GTA	p.L965V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	965							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113090015	113090015	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113090015C>T	uc002thq.1	+	12	3914	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	1174							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
TTL	150465	broad.mit.edu	37	2	113243546	113243546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113243546A>G	uc002thu.2	+	2	389	c.210A>G	c.(208-210)AAA>AAG	p.K70K		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	70	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)				T	ETV6	ALL								---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113332742	113332742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113332742A>G	uc002thw.2	+	15	3424	c.2844A>G	c.(2842-2844)ACA>ACG	p.T948T	POLR1B_uc010fkn.2_Silent_p.T892T|POLR1B_uc002thx.2_Silent_p.T809T|POLR1B_uc010fko.2_Silent_p.T765T|POLR1B_uc010fkp.2_Silent_p.T387T|POLR1B_uc010yxn.1_Silent_p.T986T|POLR1B_uc002thy.2_Silent_p.T809T|POLR1B_uc010yxo.1_Silent_p.T725T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	948					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113498582	113498582	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113498582T>A	uc002tie.2	-	8	1904	c.1825A>T	c.(1825-1827)ATT>TTT	p.I609F	CKAP2L_uc002tif.2_Missense_Mutation_p.I198F|CKAP2L_uc010yxp.1_Missense_Mutation_p.I444F|uc002tid.2_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	609						centrosome					0																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113513703	113513703	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113513703T>C	uc002tie.2	-	4	1324	c.1245A>G	c.(1243-1245)GCA>GCG	p.A415A	CKAP2L_uc002tif.2_Silent_p.A4A|CKAP2L_uc010yxp.1_Silent_p.A250A|CKAP2L_uc010yxq.1_Silent_p.A250A	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	415						centrosome					0																		---	---	---	---
CBWD2	150472	broad.mit.edu	37	2	114195463	114195463	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114195463A>T	uc002tju.2	+	1	196	c.18A>T	c.(16-18)GGA>GGT	p.G6G	CBWD2_uc002tjt.2_Silent_p.G6G|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	6							ATP binding|protein binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257141	114257141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257141G>A	uc002tjw.3	+	1	481	c.308G>A	c.(307-309)CGG>CAG	p.R103Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	103					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257269	114257269	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257269C>T	uc002tjw.3	+	1	609	c.436C>T	c.(436-438)CGC>TGC	p.R146C		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257505	114257505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257505C>T	uc002tjw.3	+	1	845	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	224	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257596	114257596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257596G>A	uc002tjw.3	+	1	936	c.763G>A	c.(763-765)GGG>AGG	p.G255R		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	255	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257625	114257625	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257625G>A	uc002tjw.3	+	1	965	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	264	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114480774A>G	uc002tku.1	-						SLC35F5_uc002tkt.2_Intron	NM_025181	NP_079457			solute carrier family 35, member F5						transport	integral to membrane					0																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118586952	118586952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118586952T>A	uc002tlh.1	+	13	1879	c.1780T>A	c.(1780-1782)TCT>ACT	p.S594T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	594							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118588280	118588280	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118588280A>G	uc002tlh.1	+	14	2092	c.1993A>G	c.(1993-1995)AGC>GGC	p.S665G		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	665							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118766233	118766233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118766233A>G	uc002tlj.2	-	2	170	c.44T>C	c.(43-45)GTG>GCG	p.V15A	CCDC93_uc010fld.1_Missense_Mutation_p.V15A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	15										large_intestine(1)|ovary(1)	2																OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118854319	118854319	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120012365	120012365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120012365G>A	uc002tlp.2	+	5	1283	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	STEAP3_uc002tlq.2_Missense_Mutation_p.V386M|STEAP3_uc002tlr.2_Missense_Mutation_p.V376M|STEAP3_uc010fle.2_Missense_Mutation_p.V376M	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	376	Ferric oxidoreductase.|Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
TMEM37	140738	broad.mit.edu	37	2	120194588	120194588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120194588C>T	uc002tly.2	+	2	179	c.145C>T	c.(145-147)CAC>TAC	p.H49Y		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	49						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1																		---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121104185	121104185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121104185T>C	uc002tmn.2	+	1	467	c.421T>C	c.(421-423)TCC>CCC	p.S141P		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	141					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106966	121106966	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106966A>G	uc002tmn.2	+	2	786	c.740A>G	c.(739-741)AAC>AGC	p.N247S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	247					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121712859	121712859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121712859C>T	uc010flp.2	+	4	526	c.496C>T	c.(496-498)CTT>TTT	p.L166F	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.L41F|GLI2_uc002tmw.1_Missense_Mutation_p.L166F	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	166					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122215273	122215273	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122215273C>T	uc002tnc.2	-	14	1765	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A459T|CLASP1_uc010yza.1_Missense_Mutation_p.A459T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A459T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	459	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367380	125367380	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367380A>T	uc002tno.2	+	12	2120	c.1756A>T	c.(1756-1758)ATC>TTC	p.I586F	CNTNAP5_uc010flu.2_Missense_Mutation_p.I587F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367427	125367427	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367427C>T	uc002tno.2	+	12	2167	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	CNTNAP5_uc010flu.2_Silent_p.A602A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	601	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530570	125530570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125530570C>T	uc002tno.2	+	17	3089	c.2725C>T	c.(2725-2727)CAG>TAG	p.Q909*	CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Q910*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	909	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128253655	128253655	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128253655C>G	uc002ton.2	-	7	1938	c.1635G>C	c.(1633-1635)CGG>CGC	p.R545R	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	545					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128263102	128263102	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128263102C>A	uc002ton.2	-	3	680	c.377G>T	c.(376-378)AGG>ATG	p.R126M	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	126	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
LIMS2	55679	broad.mit.edu	37	2	128412420	128412420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128412420C>T	uc002tpa.2	-	3	388	c.222G>A	c.(220-222)CCG>CCA	p.P74P	LIMS2_uc002tox.2_Silent_p.P98P|LIMS2_uc010fmb.2_Translation_Start_Site|LIMS2_uc002toy.2_Silent_p.P69P|LIMS2_uc010yzm.1_Silent_p.P96P|LIMS2_uc002toz.2_Silent_p.P69P|LIMS2_uc002tpb.2_Silent_p.P69P	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	74	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)														---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471327	128471327	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128471327C>T	uc002tpg.1	-	18	3321	c.3138G>A	c.(3136-3138)AGG>AGA	p.R1046R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1046					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128767876G>A	uc002tpp.2	-	7	1046	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128930248	128930248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128930248T>C	uc002tps.2	+	29	3384	c.3206T>C	c.(3205-3207)CTG>CCG	p.L1069P	UGGT1_uc002tpr.2_Missense_Mutation_p.L1045P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1069					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128931343	128931343	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128931343T>C	uc002tps.2	+						UGGT1_uc002tpr.2_Intron	NM_020120	NP_064505			UDP-glucose ceramide glucosyltransferase-like 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130918776	130918776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130918776C>T	uc002tqq.1	-	11	1571	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T	SMPD4_uc002tqp.1_Missense_Mutation_p.A44T|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.A219T|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Silent_p.R64R|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	312					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)													---	---	---	---
FAM123C	205147	broad.mit.edu	37	2	131520350	131520350	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131520350T>G	uc002trw.2	+	2	895	c.705T>G	c.(703-705)TGT>TGG	p.C235W	FAM123C_uc010fmv.2_Missense_Mutation_p.C235W|FAM123C_uc010fms.1_Missense_Mutation_p.C235W|FAM123C_uc010fmt.1_Missense_Mutation_p.C235W|FAM123C_uc010fmu.1_Missense_Mutation_p.C235W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	235										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131704079	131704079	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131704079C>T	uc002tsa.1	+						ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Intron|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002trz.1_Intron	NM_015320	NP_056135			Rho guanine nucleotide exchange factor 4 isoform						apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)														---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021731	132021731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132021731C>T	uc002tsn.2	+	15	2755	c.2703C>T	c.(2701-2703)ACC>ACT	p.T901T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T501T|POTEE_uc002tsl.2_Silent_p.T483T|POTEE_uc010fmy.1_Silent_p.T365T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	901	Actin-like.						ATP binding				0																		---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133174728	133174728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133174728T>C	uc002ttl.2	+	1	582	c.113T>C	c.(112-114)CTG>CCG	p.L38P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	38	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0																		---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135095865	135095865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135095865T>C	uc002ttv.1	+	6	826	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135711759	135711759	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135711759G>A	uc002tuc.1	+	9	1766	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CCNT2_uc002tub.1_Silent_p.S578S|CCNT2_uc010zbf.1_Silent_p.S403S|CCNT2_uc002tud.1_Silent_p.S241S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	578					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135884141	135884141	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135884141T>C	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136389319	136389319	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136389319G>T	uc002tuo.2	+	8	899	c.529G>T	c.(529-531)GAA>TAA	p.E177*	R3HDM1_uc010fni.2_Nonsense_Mutation_p.E175*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E121*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E9*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	177	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136396677	136396677	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136396677A>G	uc002tuo.2	+	14	1574	c.1204A>G	c.(1204-1206)AGG>GGG	p.R402G	R3HDM1_uc010fni.2_Missense_Mutation_p.R400G|R3HDM1_uc002tup.2_Missense_Mutation_p.R346G|R3HDM1_uc010zbh.1_Missense_Mutation_p.R234G	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	402							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136437848	136437848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136437848C>T	uc002tuo.2	+	20	2678	c.2308C>T	c.(2308-2310)CCT>TCT	p.P770S	R3HDM1_uc010fni.2_Missense_Mutation_p.P769S|R3HDM1_uc002tup.2_Missense_Mutation_p.P715S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P518S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
DARS	1615	broad.mit.edu	37	2	136664919	136664919	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136664919C>A	uc002tux.1	-	16	1657	c.1473G>T	c.(1471-1473)ATG>ATT	p.M491I	DARS_uc010fnj.1_Missense_Mutation_p.M391I	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	491					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)													---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138400209	138400209	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138400209T>C	uc002tva.1	+						THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139308136	139308136	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139308136T>C	uc002tvh.2	+	3	562	c.162T>C	c.(160-162)AGT>AGC	p.S54S		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	54	MATH.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)														---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429149	139429149	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139429149G>A	uc002tvi.2	-	2	138	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	46	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990805	140990805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:140990805C>A	uc002tvj.1	-	91	14722	c.13750G>T	c.(13750-13752)GAA>TAA	p.E4584*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4584	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665468	141665468	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141665468G>A	uc002tvj.1	-	22	4470	c.3498C>T	c.(3496-3498)GGC>GGT	p.G1166G	LRP1B_uc010fnl.1_Silent_p.G348G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1166	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144244959	144244959	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144244959A>T	uc002tvm.3	+	9	872	c.721A>T	c.(721-723)AGT>TGT	p.S241C	ARHGAP15_uc002tvn.2_Missense_Mutation_p.S7C	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	241					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156756	145156756	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145156756G>A	uc002tvu.2	-	8	2478	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	ZEB2_uc002tvv.2_Silent_p.N660N|ZEB2_uc010zbm.1_Silent_p.N637N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N695N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	666	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157213	145157213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157213G>A	uc002tvu.2	-	8	2021	c.1541C>T	c.(1540-1542)CCG>CTG	p.P514L	ZEB2_uc002tvv.2_Missense_Mutation_p.P508L|ZEB2_uc010zbm.1_Missense_Mutation_p.P485L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P543L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	514						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148695720	148695720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148695720T>C	uc002twi.2	-	13	1252	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V	ORC4L_uc002twj.2_Missense_Mutation_p.M373V|ORC4L_uc010zbo.1_Missense_Mutation_p.M299V|ORC4L_uc010zbp.1_Missense_Mutation_p.M156V|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Missense_Mutation_p.M289V|ORC4L_uc002twk.2_Missense_Mutation_p.M373V|ORC4L_uc002twl.1_5'Flank	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	373					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247137	149247137	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247137C>T	uc002twm.3	+	12	4225	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1079G|MBD5_uc002two.2_Silent_p.G337G|MBD5_uc002twp.2_Silent_p.G129G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1079						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247533	149247533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247533G>A	uc002twm.3	+	12	4621	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.K1211K|MBD5_uc002two.2_Silent_p.K469K|MBD5_uc002twp.2_Silent_p.K261K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
RND3	390	broad.mit.edu	37	2	151326555	151326555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:151326555C>T	uc002txe.2	-	5	925	c.681G>A	c.(679-681)TCG>TCA	p.S227S	RND3_uc002txf.2_Silent_p.S226S|RND3_uc002txg.2_Silent_p.S227S|RND3_uc010zbv.1_Missense_Mutation_p.R110Q|RND3_uc010zbw.1_Silent_p.S90S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	227					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152330503	152330503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152330503T>C	uc002txm.2	+	35	7251	c.7121T>C	c.(7120-7122)ATT>ACT	p.I2374T	RIF1_uc002txl.2_Missense_Mutation_p.I2348T|RIF1_uc002txn.2_Missense_Mutation_p.I2348T|RIF1_uc002txo.2_Missense_Mutation_p.I2348T|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2374	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152342334	152342334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152342334G>A	uc010fnx.2	-	149	20141	c.19950C>T	c.(19948-19950)GGC>GGT	p.G6650G	NEB_uc002txr.2_Silent_p.G2980G|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.G419G|NEB_uc002txq.2_Silent_p.G529G|NEB_uc010zca.1_Silent_p.G481G|NEB_uc010zcb.1_Silent_p.G419G	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6650	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152381673	152381673	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152381673T>G	uc010fnx.2	-						NEB_uc002txr.2_Intron|NEB_uc002txt.3_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152382735	152382735	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152382735G>A	uc010fnx.2	-	121	17075	c.16884C>T	c.(16882-16884)TGC>TGT	p.C5628C	NEB_uc002txr.2_Silent_p.C2051C|NEB_uc002txt.3_Silent_p.C133C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5628	Nebulin 154.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152410411	152410411	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152410411G>A	uc010fnx.2	-	98	14645	c.14454C>T	c.(14452-14454)CAC>CAT	p.H4818H	NEB_uc002txr.2_Silent_p.H1241H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4818	Nebulin 131.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152472522	152472522	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152472522A>G	uc010fnx.2	-	72	10745	c.10554T>C	c.(10552-10554)GCT>GCC	p.A3518A		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3518	Nebulin 96.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496986	152496986	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496986C>G	uc010fnx.2	-	61	8759	c.8568G>C	c.(8566-8568)AAG>AAC	p.K2856N	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2856	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496994	152496994	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496994G>A	uc010fnx.2	-	61	8751	c.8560C>T	c.(8560-8562)CTG>TTG	p.L2854L	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2854	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152497096	152497096	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152497096A>T	uc010fnx.2	-	61	8649	c.8458T>A	c.(8458-8460)TCC>ACC	p.S2820T	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2820	Nebulin 76.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152506866	152506866	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152506866G>T	uc010fnx.2	-	54	7446	c.7255C>A	c.(7255-7257)CTG>ATG	p.L2419M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2419					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522819	152522819	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522819C>T	uc010fnx.2	-	41	5007	c.4816G>A	c.(4816-4818)GCC>ACC	p.A1606T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1606	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522861	152522861	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522861T>C	uc010fnx.2	-	41	4965	c.4774A>G	c.(4774-4776)AGT>GGT	p.S1592G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1592	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152536326	152536326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152536326T>C	uc010fnx.2	-	32	3355	c.3164A>G	c.(3163-3165)GAC>GGC	p.D1055G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1055	Nebulin 25.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
ARL5A	26225	broad.mit.edu	37	2	152670830	152670830	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152670830A>G	uc002txx.1	-	3	427	c.108T>C	c.(106-108)TTT>TTC	p.F36F	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_5'UTR|ARL5A_uc002txw.1_5'UTR	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	36					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)														---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153378496	153378496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153378496C>T	uc002tye.2	+	2	524	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	53	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153475388	153475388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153475388T>C	uc002tye.2	+	14	1710	c.1343T>C	c.(1342-1344)GTT>GCT	p.V448A	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	448	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334890	154334890	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154334890C>T	uc002tyq.1	-	1	433	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	64	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0																		---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186496	157186496	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157186496C>A	uc002tyz.3	-	3	625	c.203G>T	c.(202-204)AGC>ATC	p.S68I	NR4A2_uc002tyx.3_Missense_Mutation_p.S5I|NR4A2_uc010zcf.1_Missense_Mutation_p.S68I|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	68					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157369851	157369851	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157369851G>A	uc002tzf.3	+	6	864	c.504G>A	c.(502-504)TGG>TGA	p.W168*	GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Nonsense_Mutation_p.W168*|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	168					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157425912	157425912	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157425912T>A	uc002tzf.3	+	11	1698	c.1338T>A	c.(1336-1338)GAT>GAA	p.D446E	GPD2_uc010zch.1_Missense_Mutation_p.D219E|GPD2_uc002tzd.3_Missense_Mutation_p.D446E|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	446					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406865	158406865	+	Missense_Mutation	SNP	A	G	G	rs56188432	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158406865A>G	uc002tzk.3	-	4	827	c.584T>C	c.(583-585)ATT>ACT	p.I195T	ACVR1C_uc002tzl.3_Missense_Mutation_p.I115T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I145T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	195	Protein kinase.|Cytoplasmic (Potential).		I -> T.		apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7																		---	---	---	---
UPP2	151531	broad.mit.edu	37	2	158971666	158971666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158971666G>A	uc002tzp.2	+	3	428	c.234G>A	c.(232-234)ATG>ATA	p.M78I	UPP2_uc002tzo.2_Missense_Mutation_p.M135I	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	78					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0																		---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159195339	159195339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159195339G>A	uc002tzq.2	-	7	926	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y	CCDC148_uc002tzr.2_Silent_p.Y69Y|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.Y168Y|CCDC148_uc010foj.1_Silent_p.Y69Y|CCDC148_uc010fok.1_Silent_p.Y135Y|CCDC148_uc002tzs.1_Silent_p.Y221Y	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	221										ovary(2)	2																		---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159517928	159517928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159517928A>G	uc002tzv.2	+	13	2437	c.2177A>G	c.(2176-2178)CAC>CGC	p.H726R	PKP4_uc002tzt.1_Missense_Mutation_p.H578R|PKP4_uc002tzu.2_Missense_Mutation_p.H726R|PKP4_uc002tzw.2_Missense_Mutation_p.H726R|PKP4_uc002tzx.2_Missense_Mutation_p.H383R|PKP4_uc002tzy.1_Missense_Mutation_p.H384R|PKP4_uc002uaa.2_Missense_Mutation_p.H578R|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	726	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
DAPL1	92196	broad.mit.edu	37	2	159660836	159660836	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159660836G>A	uc002uaf.2	+	2	157	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	34					apoptosis|cell differentiation						0																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035681	160035681	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160035681C>T	uc002uag.2	+						TANC1_uc010zcm.1_Intron|TANC1_uc010fom.1_Intron|TANC1_uc002uai.1_RNA	NM_033394	NP_203752			tetratricopeptide repeat, ankyrin repeat and							cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050845	160050845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050845C>T	uc002uag.2	+	17	3094	c.2820C>T	c.(2818-2820)TGC>TGT	p.C940C	TANC1_uc010zcm.1_Silent_p.C932C|TANC1_uc010fom.1_Silent_p.C746C	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	940	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050927	160050927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050927G>A	uc002uag.2	+	17	3176	c.2902G>A	c.(2902-2904)GGC>AGC	p.G968S	TANC1_uc010zcm.1_Missense_Mutation_p.G960S|TANC1_uc010fom.1_Missense_Mutation_p.G774S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	968	ANK 3.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289417	160289417	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160289417G>A	uc002uao.2	-	9	2103	c.1751C>T	c.(1750-1752)GCA>GTA	p.A584V	BAZ2B_uc002uap.2_Missense_Mutation_p.A582V|BAZ2B_uc002uas.1_Missense_Mutation_p.A521V|BAZ2B_uc002uaq.1_Missense_Mutation_p.A512V|BAZ2B_uc002uar.1_Missense_Mutation_p.A157V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	160983118	160983118	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160983118A>G	uc002ubh.2	-						ITGB6_uc010fou.2_Intron|ITGB6_uc010zcq.1_Intron|ITGB6_uc010fov.1_Intron	NM_000888	NP_000879			integrin, beta 6 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161029176	161029176	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161029176A>G	uc002ubh.2	-	6	841	c.825T>C	c.(823-825)CAT>CAC	p.H275H	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	275	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
TANK	10010	broad.mit.edu	37	2	162087958	162087958	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162087958G>A	uc002ubr.1	+	7	1155	c.997G>A	c.(997-999)GAC>AAC	p.D333N	TANK_uc002ubs.2_Missense_Mutation_p.D333N	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	333						cytosol	metal ion binding|protein binding			ovary(1)	1																		---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162279997	162279997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162279997C>T	uc002ubw.1	+	6	1610	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TBR1_uc010foy.2_Silent_p.F149F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162661031G>A	uc002ubx.3	+	3	387	c.203G>A	c.(202-204)CGT>CAT	p.R68H	SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	68	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162875293	162875293	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162875293A>G	uc002ubz.2	-	16	1927	c.1366T>C	c.(1366-1368)TAC>CAC	p.Y456H	DPP4_uc010fpb.2_Missense_Mutation_p.Y132H	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	456	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059659	163059659	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163059659A>G	uc002ucd.2	-						FAP_uc010zct.1_Intron|FAP_uc010fpd.2_Intron	NM_004460	NP_004451			fibroblast activation protein, alpha subunit						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256819	163256819	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163256819T>C	uc002uch.1	-	10	2499	c.2287A>G	c.(2287-2289)ACC>GCC	p.T763A		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	763	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466724	164466724	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164466724C>T	uc002uck.1	-	3	1929	c.1618G>A	c.(1618-1620)GCT>ACT	p.A540T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	540						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165550768	165550768	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165550768G>T	uc010zcw.1	-						COBLL1_uc002ucp.2_Intron|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucn.2_Intron|COBLL1_uc002uco.2_Intron	NM_014900	NP_055715			COBL-like 1											ovary(2)|pancreas(1)	3																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551250	165551250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165551250A>G	uc010zcw.1	-	15	3091	c.2967T>C	c.(2965-2967)GCT>GCC	p.A989A	COBLL1_uc002ucp.2_Silent_p.A922A|COBLL1_uc002ucq.2_Silent_p.A884A|COBLL1_uc010zcx.1_Silent_p.A930A|COBLL1_uc002ucn.2_Silent_p.A350A|COBLL1_uc002uco.2_Silent_p.A653A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	960										ovary(2)|pancreas(1)	3																		---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165768194	165768194	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165768194A>G	uc002ucv.1	-	11	1284	c.747T>C	c.(745-747)GGT>GGC	p.G249G	SLC38A11_uc002ucu.1_Silent_p.G227G|SLC38A11_uc002ucw.1_Silent_p.G249G	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	249	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165950924	165950924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165950924A>T	uc002ucx.2	-	26	4988	c.4496T>A	c.(4495-4497)CTT>CAT	p.L1499H	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1450H|SCN3A_uc002ucz.2_Missense_Mutation_p.L1450H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1499						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165997314	165997314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165997314G>A	uc002ucx.2	-	13	2358	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	SCN3A_uc002ucy.2_Silent_p.N622N|SCN3A_uc002ucz.2_Silent_p.N622N|SCN3A_uc002uda.1_Silent_p.N491N|SCN3A_uc002udb.1_Silent_p.N491N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	622						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152539	166152539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166152539T>C	uc002udc.2	+	2	496	c.206T>C	c.(205-207)ATT>ACT	p.I69T	SCN2A_uc002udd.2_Missense_Mutation_p.I69T|SCN2A_uc002ude.2_Missense_Mutation_p.I69T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	69					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166168564	166168564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166168564G>A	uc002udc.2	+	8	1290	c.1000G>A	c.(1000-1002)GAT>AAT	p.D334N	SCN2A_uc002udd.2_Missense_Mutation_p.D334N|SCN2A_uc002ude.2_Missense_Mutation_p.D334N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	334	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166179742	166179742	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166179742G>A	uc002udc.2	+	12	2038	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	SCN2A_uc002udd.2_Missense_Mutation_p.R583Q|SCN2A_uc002ude.2_Missense_Mutation_p.R583Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	583					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166231207	166231207	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166231207G>A	uc002udc.2	+	22	4275	c.3985G>A	c.(3985-3987)GCT>ACT	p.A1329T	SCN2A_uc002udd.2_Missense_Mutation_p.A1329T|SCN2A_uc002ude.2_Missense_Mutation_p.A1329T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1329	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166802129	166802129	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166802129A>C	uc002udk.2	-	4	467	c.334T>G	c.(334-336)TAC>GAC	p.Y112D	TTC21B_uc002udl.2_Missense_Mutation_p.Y112D|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	112	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848920	166848920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848920G>A	uc010zcz.1	-	26	4850	c.4832C>T	c.(4831-4833)GCC>GTC	p.A1611V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1622	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167133605	167133605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167133605A>T	uc010fpl.2	-	16	3070	c.2729T>A	c.(2728-2730)TTC>TAC	p.F910Y	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	921	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104512	168104512	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104512A>G	uc002udx.2	+	8	6628	c.6610A>G	c.(6610-6612)ATA>GTA	p.I2204V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2029V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1982V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2029					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
STK39	27347	broad.mit.edu	37	2	169018361	169018361	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169018361A>G	uc002uea.2	-							NM_013233	NP_037365			serine threonine kinase 39 (STE20/SPS1 homolog,						response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169313062	169313062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169313062C>T	uc002ueb.1	+	1	228	c.104C>T	c.(103-105)GCT>GTT	p.A35V	LASS6_uc002uec.1_Missense_Mutation_p.A35V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	35	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169792759	169792759	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169792759G>A	uc002ueo.1	-	22	2921	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	ABCB11_uc010zda.1_Missense_Mutation_p.A374V|ABCB11_uc010zdb.1_Missense_Mutation_p.A408V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	932	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169939959	169939959	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169939959C>G	uc002uep.2	+	6	1938	c.434C>G	c.(433-435)ACA>AGA	p.T145R	DHRS9_uc002ueq.2_Missense_Mutation_p.T145R|DHRS9_uc010zdc.1_Missense_Mutation_p.T205R|DHRS9_uc010zdd.1_Missense_Mutation_p.T145R|DHRS9_uc010zde.1_Missense_Mutation_p.T145R	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	145					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169940033	169940033	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169940033G>A	uc002uep.2	+	6	2012	c.508G>A	c.(508-510)GCA>ACA	p.A170T	DHRS9_uc002ueq.2_Missense_Mutation_p.A170T|DHRS9_uc010zdc.1_Missense_Mutation_p.A230T|DHRS9_uc010zdd.1_Missense_Mutation_p.A170T|DHRS9_uc010zde.1_Missense_Mutation_p.A170T	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	170					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012784	170012784	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012784C>A	uc002ues.2	-	65	12364	c.12151G>T	c.(12151-12153)GGT>TGT	p.G4051C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4051	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170034315	170034315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170034315A>G	uc002ues.2	-	53	10604	c.10391T>C	c.(10390-10392)ATT>ACT	p.I3464T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3464	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170066149G>A	uc002ues.2	-	38	6496	c.6283C>T	c.(6283-6285)CGA>TGA	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2095	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170097855	170097855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170097855A>G	uc002ues.2	-	25	3901	c.3688T>C	c.(3688-3690)TGC>CGC	p.C1230R	LRP2_uc010zdf.1_Missense_Mutation_p.C1093R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1230	Extracellular (Potential).|LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170115570	170115570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170115570A>C	uc002ues.2	-	17	2691	c.2478T>G	c.(2476-2478)AAT>AAG	p.N826K	LRP2_uc010zdf.1_Missense_Mutation_p.N689K	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	826	LDL-receptor class B 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170135946	170135946	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170135946G>A	uc002ues.2	-	12	1714	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	LRP2_uc010zdf.1_Missense_Mutation_p.R501W	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	501	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170936326	170936326	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170936326C>A	uc010zdi.1	+	37	5202	c.5202C>A	c.(5200-5202)GCC>GCA	p.A1734A	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.A555A|UBR3_uc002uft.3_Silent_p.A591A|UBR3_uc010zdj.1_Silent_p.A425A|UBR3_uc002ufu.3_Silent_p.A240A	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1734					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171256774	171256774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171256774A>G	uc002ufy.2	+	17	2011	c.1868A>G	c.(1867-1869)CAA>CGA	p.Q623R	MYO3B_uc002ufv.2_Missense_Mutation_p.Q610R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q610R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q623R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	623	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171906571	171906571	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171906571T>C	uc002ugn.2	-						TLK1_uc002ugo.2_Intron|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_Intron|TLK1_uc010zdn.1_Intron|TLK1_uc002ugr.1_Intron	NM_012290	NP_036422			tousled-like kinase 1 isoform 1						cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
DCAF17	80067	broad.mit.edu	37	2	172330389	172330389	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172330389T>A	uc002ugx.2	+	10	1224	c.995T>A	c.(994-996)ATC>AAC	p.I332N	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Intron|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.I52N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	332						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0																		---	---	---	---
PDK1	5163	broad.mit.edu	37	2	173457701	173457701	+	Silent	SNP	C	T	T	rs138447627		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173457701C>T	uc002uhr.2	+	10	1195	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	PDK1_uc010zdz.1_Silent_p.Y210Y|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.Y385Y|PDK1_uc002uhs.2_Silent_p.Y365Y|PDK1_uc010zeb.1_Silent_p.Y385Y	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	365	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)											Autosomal_Dominant_Polycystic_Kidney_Disease				---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173891823	173891823	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173891823T>A	uc002uhv.3	+	25	2581	c.2394T>A	c.(2392-2394)TAT>TAA	p.Y798*	RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.Y654*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	798	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174130855	174130855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174130855A>G	uc002uhz.2	+	20	1980	c.1780A>G	c.(1780-1782)AAT>GAT	p.N594D	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	594					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174131092	174131092	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174131092T>A	uc002uhz.2	+	20	2217	c.2017T>A	c.(2017-2019)TAC>AAC	p.Y673N	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	673					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174229673	174229673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174229673T>C	uc002uid.1	+	5	744	c.613T>C	c.(613-615)TAC>CAC	p.Y205H	CDCA7_uc002uic.1_Missense_Mutation_p.Y284H|CDCA7_uc010zej.1_Missense_Mutation_p.Y240H|CDCA7_uc010zek.1_Missense_Mutation_p.Y163H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	205					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)															---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175246441	175246441	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175246441C>A	uc002uim.2	-	3	325	c.232G>T	c.(232-234)GCT>TCT	p.A78S	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	78	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175676303	175676303	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175676303T>C	uc002uji.2	-	10	1430	c.900A>G	c.(898-900)GAA>GAG	p.E300E	CHN1_uc010zeq.1_Silent_p.E274E|CHN1_uc002ujj.2_Silent_p.E75E|CHN1_uc002ujg.2_Silent_p.E175E	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	300	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
ATP5G3	518	broad.mit.edu	37	2	176046086	176046086	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176046086A>T	uc002ujz.3	-	1	306	c.36T>A	c.(34-36)TCT>TCA	p.S12S	ATP5G3_uc002uka.3_Silent_p.S12S|ATP5G3_uc002ukb.1_Silent_p.S12S	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)															---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995452	176995452	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176995452C>G	uc002uko.2	+	1	976	c.358C>G	c.(358-360)CCA>GCA	p.P120A	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P120A	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	120	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---
MTX2	10651	broad.mit.edu	37	2	177202275	177202275	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177202275A>G	uc002ukx.2	+	10	910	c.675A>G	c.(673-675)ACA>ACG	p.T225T	MTX2_uc002ukw.2_Silent_p.T215T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	225					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178415951	178415951	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178415951T>C	uc002uln.2	-	1	1574	c.1541A>G	c.(1540-1542)AAT>AGT	p.N514S	TTC30B_uc010zfc.1_Missense_Mutation_p.N286S	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	514	Potential.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178416839	178416839	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178416839C>T	uc002uln.2	-	1	686	c.653G>A	c.(652-654)GGC>GAC	p.G218D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	218	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179201135	179201135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179201135G>A	uc002ulx.2	+	9	1143	c.765G>A	c.(763-765)TCG>TCA	p.S255S	OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	255					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325710	179325710	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179325710T>C	uc002umi.3	+	7	1124	c.768T>C	c.(766-768)AAT>AAC	p.N256N	DFNB59_uc002umj.3_Silent_p.N256N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	256					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
FKBP7	51661	broad.mit.edu	37	2	179334426	179334426	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179334426A>T	uc002umk.2	-	3	589	c.460T>A	c.(460-462)TTT>ATT	p.F154I	FKBP7_uc002umm.2_Missense_Mutation_p.F153I|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	191	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393421	179393421	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179393421A>G	uc010zfg.1	-	309	99577	c.99353T>C	c.(99352-99354)GTC>GCC	p.V33118A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V26813A|TTN_uc010zfi.1_Missense_Mutation_p.V26746A|TTN_uc010zfj.1_Missense_Mutation_p.V26621A|TTN_uc002umq.2_Missense_Mutation_p.V135A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34045							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395728	179395728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179395728T>C	uc010zfg.1	-	307	98134	c.97910A>G	c.(97909-97911)AAC>AGC	p.N32637S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N26332S|TTN_uc010zfi.1_Missense_Mutation_p.N26265S|TTN_uc010zfj.1_Missense_Mutation_p.N26140S|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33564							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402473	179402473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179402473C>T	uc010zfg.1	-	304	91981	c.91757G>A	c.(91756-91758)CGC>CAC	p.R30586H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281H|TTN_uc010zfi.1_Missense_Mutation_p.R24214H|TTN_uc010zfj.1_Missense_Mutation_p.R24089H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404632	179404632	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179404632G>A	uc010zfg.1	-	301	90680	c.90456C>T	c.(90454-90456)GGC>GGT	p.G30152G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G23847G|TTN_uc010zfi.1_Silent_p.G23780G|TTN_uc010zfj.1_Silent_p.G23655G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31079							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179412969	179412969	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179412969G>T	uc010zfg.1	-	288	85904	c.85680C>A	c.(85678-85680)TCC>TCA	p.S28560S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S22255S|TTN_uc010zfi.1_Silent_p.S22188S|TTN_uc010zfj.1_Silent_p.S22063S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29487							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414486	179414486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414486A>G	uc010zfg.1	-	287	84483	c.84259T>C	c.(84259-84261)TAC>CAC	p.Y28087H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21782H|TTN_uc010zfi.1_Missense_Mutation_p.Y21715H|TTN_uc010zfj.1_Missense_Mutation_p.Y21590H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29014							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414849	179414849	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414849A>G	uc010zfg.1	-	286	84236	c.84012T>C	c.(84010-84012)AAT>AAC	p.N28004N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N21699N|TTN_uc010zfi.1_Silent_p.N21632N|TTN_uc010zfj.1_Silent_p.N21507N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414978	179414978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414978G>A	uc010zfg.1	-	286	84107	c.83883C>T	c.(83881-83883)GGC>GGT	p.G27961G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21656G|TTN_uc010zfi.1_Silent_p.G21589G|TTN_uc010zfj.1_Silent_p.G21464G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179415883	179415883	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179415883T>C	uc010zfg.1	-	285	83895	c.83671A>G	c.(83671-83673)ATT>GTT	p.I27891V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21586V|TTN_uc010zfi.1_Missense_Mutation_p.I21519V|TTN_uc010zfj.1_Missense_Mutation_p.I21394V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417047	179417047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179417047C>T	uc010zfg.1	-	284	83100	c.82876G>A	c.(82876-82878)GCC>ACC	p.A27626T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21321T|TTN_uc010zfi.1_Missense_Mutation_p.A21254T|TTN_uc010zfj.1_Missense_Mutation_p.A21129T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179418786	179418786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179418786T>C	uc010zfg.1	-	282	81572	c.81348A>G	c.(81346-81348)CTA>CTG	p.L27116L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20811L|TTN_uc010zfi.1_Silent_p.L20744L|TTN_uc010zfj.1_Silent_p.L20619L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28043							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179419597	179419597	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179419597A>T	uc010zfg.1	-	280	81109	c.80885T>A	c.(80884-80886)ATC>AAC	p.I26962N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20657N|TTN_uc010zfi.1_Missense_Mutation_p.I20590N|TTN_uc010zfj.1_Missense_Mutation_p.I20465N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27889							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425685	179425685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179425685C>T	uc010zfg.1	-	275	77694	c.77470G>A	c.(77470-77472)GCC>ACC	p.A25824T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A19519T|TTN_uc010zfi.1_Missense_Mutation_p.A19452T|TTN_uc010zfj.1_Missense_Mutation_p.A19327T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26751							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428522	179428522	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179428522G>T	uc010zfg.1	-	275	74857	c.74633C>A	c.(74632-74634)GCT>GAT	p.A24878D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A18573D|TTN_uc010zfi.1_Missense_Mutation_p.A18506D|TTN_uc010zfj.1_Missense_Mutation_p.A18381D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25805							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179429031	179429031	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179429031A>C	uc010zfg.1	-	275	74348	c.74124T>G	c.(74122-74124)TCT>TCG	p.S24708S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S18403S|TTN_uc010zfi.1_Silent_p.S18336S|TTN_uc010zfj.1_Silent_p.S18211S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179432851	179432851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179432851G>A	uc010zfg.1	-	275	70528	c.70304C>T	c.(70303-70305)TCC>TTC	p.S23435F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S17130F|TTN_uc010zfi.1_Missense_Mutation_p.S17063F|TTN_uc010zfj.1_Missense_Mutation_p.S16938F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437140	179437140	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437140G>A	uc010zfg.1	-	275	66239	c.66015C>T	c.(66013-66015)TGC>TGT	p.C22005C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C15700C|TTN_uc010zfi.1_Silent_p.C15633C|TTN_uc010zfj.1_Silent_p.C15508C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437289	179437289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437289G>A	uc010zfg.1	-	275	66090	c.65866C>T	c.(65866-65868)CAG>TAG	p.Q21956*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q15651*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q15584*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q15459*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179442036	179442036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179442036T>C	uc010zfg.1	-	273	61546	c.61322A>G	c.(61321-61323)TAT>TGT	p.Y20441C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14136C|TTN_uc010zfi.1_Missense_Mutation_p.Y14069C|TTN_uc010zfj.1_Missense_Mutation_p.Y13944C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21368							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447037	179447037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179447037G>T	uc010zfg.1	-	263	58666	c.58442C>A	c.(58441-58443)GCC>GAC	p.A19481D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13176D|TTN_uc010zfi.1_Missense_Mutation_p.A13109D|TTN_uc010zfj.1_Missense_Mutation_p.A12984D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20408							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456053	179456053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456053T>C	uc010zfg.1	-	253	52919	c.52695A>G	c.(52693-52695)TCA>TCG	p.S17565S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11260S|TTN_uc010zfi.1_Silent_p.S11193S|TTN_uc010zfj.1_Silent_p.S11068S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18492							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456447	179456447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456447T>C	uc010zfg.1	-	252	52619	c.52395A>G	c.(52393-52395)TTA>TTG	p.L17465L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L11160L|TTN_uc010zfi.1_Silent_p.L11093L|TTN_uc010zfj.1_Silent_p.L10968L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18392							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457902	179457902	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179457902A>G	uc010zfg.1	-	248	51553	c.51329T>C	c.(51328-51330)ATT>ACT	p.I17110T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10805T|TTN_uc010zfi.1_Missense_Mutation_p.I10738T|TTN_uc010zfj.1_Missense_Mutation_p.I10613T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18037							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179462392	179462392	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179462392A>G	uc010zfg.1	-	243	49937	c.49713T>C	c.(49711-49713)ATT>ATC	p.I16571I	uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.I10266I|TTN_uc010zfi.1_Silent_p.I10199I|TTN_uc010zfj.1_Silent_p.I10074I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463262	179463262	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463262T>C	uc010zfg.1	-	241	49602	c.49378A>G	c.(49378-49380)AAA>GAA	p.K16460E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10155E|TTN_uc010zfi.1_Missense_Mutation_p.K10088E|TTN_uc010zfj.1_Missense_Mutation_p.K9963E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17387							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463329	179463329	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463329T>C	uc010zfg.1	-	241	49535	c.49311A>G	c.(49309-49311)GCA>GCG	p.A16437A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10132A|TTN_uc010zfi.1_Silent_p.A10065A|TTN_uc010zfj.1_Silent_p.A9940A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179464134	179464134	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179464134A>G	uc010zfg.1	-	239	48906	c.48682T>C	c.(48682-48684)TCT>CCT	p.S16228P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9923P|TTN_uc010zfi.1_Missense_Mutation_p.S9856P|TTN_uc010zfj.1_Missense_Mutation_p.S9731P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17155							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495630	179495630	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495630C>A	uc010zfg.1	-	187	36575	c.36351G>T	c.(36349-36351)GAG>GAT	p.E12117D	TTN_uc010zfh.1_Missense_Mutation_p.E5812D|TTN_uc010zfi.1_Missense_Mutation_p.E5745D|TTN_uc010zfj.1_Missense_Mutation_p.E5620D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13044							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495656	179495656	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495656G>A	uc010zfg.1	-	187	36549	c.36325C>T	c.(36325-36327)CTG>TTG	p.L12109L	TTN_uc010zfh.1_Silent_p.L5804L|TTN_uc010zfi.1_Silent_p.L5737L|TTN_uc010zfj.1_Silent_p.L5612L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13036							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179517022	179517022	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179517022A>G	uc010zfg.1	-	157	32102	c.31878T>C	c.(31876-31878)CCT>CCC	p.P10626P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179542934	179542934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179542934C>T	uc010zfg.1	-	142	30404	c.30180G>A	c.(30178-30180)GTG>GTA	p.V10060V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6721V|TTN_uc010fre.1_Silent_p.V717V|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10987							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544994	179544994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179544994T>C	uc010zfg.1	-	136	29897	c.29673A>G	c.(29671-29673)GCA>GCG	p.A9891A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6552A|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179547450	179547450	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179547450T>G	uc010zfg.1	-	132	29560	c.29336A>C	c.(29335-29337)TAT>TCT	p.Y9779S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y6440S|TTN_uc010fre.1_Missense_Mutation_p.Y626S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10706							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179554557	179554557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179554557T>C	uc010zfg.1	-	119	28321	c.28097A>G	c.(28096-28098)GAA>GGA	p.E9366G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6027G|TTN_uc010fre.1_Missense_Mutation_p.E477G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10293							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179571293	179571293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179571293G>A	uc010zfg.1	-	99	25800	c.25576C>T	c.(25576-25578)CGA>TGA	p.R8526*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5187*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577959	179577959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179577959T>C	uc010zfg.1	-	90	23394	c.23170A>G	c.(23170-23172)AGT>GGT	p.S7724G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4385G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578862	179578862	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578862A>T	uc010zfg.1	-	89	23015	c.22791T>A	c.(22789-22791)GTT>GTA	p.V7597V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4258V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578874	179578874	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578874T>C	uc010zfg.1	-	89	23003	c.22779A>G	c.(22777-22779)GAA>GAG	p.E7593E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179589031	179589031	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179589031T>G	uc010zfg.1	-	69	17563	c.17339A>C	c.(17338-17340)AAT>ACT	p.N5780T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2441T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6707							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179592343G>A	uc010zfg.1	-	65	16454	c.16230C>T	c.(16228-16230)AGC>AGT	p.S5410S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2071S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6337							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594254	179594254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594254A>G	uc010zfg.1	-	61	15121	c.14897T>C	c.(14896-14898)GTA>GCA	p.V4966A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1627A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5893							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179595492	179595492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179595492T>C	uc010zfg.1	-	58	14260	c.14036A>G	c.(14035-14037)AAA>AGA	p.K4679R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1340R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597786	179597786	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179597786T>C	uc010zfg.1	-	52	12609	c.12385A>G	c.(12385-12387)ACC>GCC	p.T4129A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T790A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600589	179600589	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179600589T>C	uc010zfg.1	-	47	11076	c.10852A>G	c.(10852-10854)AGA>GGA	p.R3618G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R279G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4545							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604327	179604327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604327T>C	uc010zfh.1	-	46	13344	c.13120A>G	c.(13120-13122)AAA>GAA	p.K4374E	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4307E|TTN_uc010zfj.1_Missense_Mutation_p.K4182E|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610654	179610654	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179610654C>A	uc002unb.2	-	46	16697	c.16473G>T	c.(16471-16473)ATG>ATT	p.M5491I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616245	179616245	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179616245C>A	uc002unb.2	-	46	11106	c.10882G>T	c.(10882-10884)GAA>TAA	p.E3628*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621295	179621295	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179621295T>C	uc010zfh.1	-	44	10619	c.10395A>G	c.(10393-10395)GCA>GCG	p.A3465A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179639941	179639941	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179639941A>G	uc010zfg.1	-						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron|uc002unc.1_5'Flank	NM_133378	NP_596869			titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642221	179642221	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179642221T>A	uc010zfg.1	-	26	4795	c.4571A>T	c.(4570-4572)GAT>GTT	p.D1524V	TTN_uc010zfh.1_Missense_Mutation_p.D1478V|TTN_uc010zfi.1_Missense_Mutation_p.D1478V|TTN_uc010zfj.1_Missense_Mutation_p.D1478V|TTN_uc002unb.2_Missense_Mutation_p.D1524V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179710393	179710393	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179710393G>C	uc002unf.1	-	12	1766	c.1709C>G	c.(1708-1710)GCA>GGA	p.A570G	CCDC141_uc002une.1_Missense_Mutation_p.A20G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	570							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730575	179730575	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179730575C>T	uc002unf.1	-	7	975	c.918G>A	c.(916-918)AAG>AAA	p.K306K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	306	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179982318	179982318	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815294	180815294	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180815294C>A	uc010frh.1	-	19	2385	c.2085G>T	c.(2083-2085)GAG>GAT	p.E695D	CWC22_uc002uno.2_Missense_Mutation_p.E217D|CWC22_uc002unp.2_Missense_Mutation_p.E695D	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	695	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182394352	182394352	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182394352C>T	uc002unu.2	+	23	3278	c.2515C>T	c.(2515-2517)CTG>TTG	p.L839L	ITGA4_uc002unv.2_Silent_p.L84L	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	839	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)													---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182412405	182412405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182412405C>T	uc002unx.2	-	11	1387	c.1286G>A	c.(1285-1287)AGC>AAC	p.S429N	CERKL_uc002uny.2_Missense_Mutation_p.S403N|CERKL_uc010zfm.1_Missense_Mutation_p.S385N|CERKL_uc002unz.2_Missense_Mutation_p.S151N|CERKL_uc002uoa.2_Missense_Mutation_p.S334N|CERKL_uc002uob.2_Missense_Mutation_p.S151N|CERKL_uc002uoc.2_Missense_Mutation_p.S290N|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.S198N|CERKL_uc002unw.2_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	429					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543447	182543447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182543447G>A	uc002uof.2	-	2	377	c.141C>T	c.(139-141)AAC>AAT	p.N47N	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	47					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183094743	183094743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183094743G>A	uc002uos.2	-	7	797	c.713C>T	c.(712-714)ACA>ATA	p.T238I	PDE1A_uc010zfp.1_Missense_Mutation_p.T134I|PDE1A_uc002uoq.1_Missense_Mutation_p.T238I|PDE1A_uc010zfq.1_Missense_Mutation_p.T238I|PDE1A_uc002uor.2_Missense_Mutation_p.T222I|PDE1A_uc002uou.2_Missense_Mutation_p.T204I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	238	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)															---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183848065	183848065	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183848065C>T	uc002upc.2	-	11	1452	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	NCKAP1_uc002upb.2_Silent_p.L356L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	350					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800760	185800760	+	Missense_Mutation	SNP	G	A	A	rs139641449		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185800760G>A	uc002uph.2	+	4	1231	c.637G>A	c.(637-639)GGC>AGC	p.G213S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	213						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	186670650	186670650	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186670650T>A	uc002upm.2	+						uc010zfu.1_Silent_p.V37V					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186671431	186671431	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186671431T>C	uc002upm.2	+						uc010zfu.1_Missense_Mutation_p.F298L					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186689152	186689152	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186689152T>C	uc002upm.2	+						uc010zfu.1_Intron					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187534526	187534526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187534526A>G	uc002upq.2	+	26	2967	c.2691A>G	c.(2689-2691)GGA>GGG	p.G897G	ITGAV_uc010frs.2_Silent_p.G861G|ITGAV_uc010zfv.1_Silent_p.G851G	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	897	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693278	187693278	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187693278A>G	uc002upu.1	-	9	1375	c.1335T>C	c.(1333-1335)CCT>CCC	p.P445P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	445					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)															---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189870111	189870111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189870111T>C	uc002uqj.1	+	41	3084	c.2967T>C	c.(2965-2967)AGT>AGC	p.S989S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	989	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189933518	189933518	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189933518A>G	uc002uqk.2	-	19	1526	c.1251T>C	c.(1249-1251)GGT>GGC	p.G417G	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	417					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189948739	189948739	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189948739G>A	uc002uqk.2	-	12	1098	c.823C>T	c.(823-825)CCT>TCT	p.P275S	COL5A2_uc010frx.2_Missense_Mutation_p.P28S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	275					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190322032	190322032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190322032A>G	uc002uql.1	+						WDR75_uc002uqm.1_Intron|WDR75_uc002uqn.1_Intron|WDR75_uc002uqo.1_Translation_Start_Site	NM_032168	NP_115544			WD repeat domain 75							nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)															---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190532261	190532261	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190532261C>G	uc002uqt.2	+	4	1837	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	468	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)															---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190647275	190647275	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190647275A>G	uc002urb.3	-	1	834	c.47T>C	c.(46-48)GTC>GCC	p.V16A	PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.V16A|ORMDL1_uc002urd.3_Missense_Mutation_p.V16A|ORMDL1_uc002ure.3_Missense_Mutation_p.V16A|ORMDL1_uc002urf.3_Missense_Mutation_p.V16A|PMS1_uc010zfz.1_5'Flank	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	16					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)															---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190927276	190927276	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190927276A>G	uc002urp.2	-	1	180	c.47T>C	c.(46-48)ATT>ACT	p.I16T		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	16					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)															---	---	---	---
NAB1	4664	broad.mit.edu	37	2	191524184	191524184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191524184A>G	uc002usb.2	+	4	854	c.282A>G	c.(280-282)ATA>ATG	p.I94M	NAB1_uc010fsc.2_Missense_Mutation_p.I94M|NAB1_uc010fsd.2_Missense_Mutation_p.I94M|NAB1_uc002usc.2_Missense_Mutation_p.I94M|NAB1_uc010zgh.1_Missense_Mutation_p.I94M	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)															---	---	---	---
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191792056G>A	uc002usf.2	+	12	1537	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191796330	191796330	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191796330A>T	uc002usf.2	+	14	1881	c.1617A>T	c.(1615-1617)AAA>AAT	p.K539N	GLS_uc002use.2_Missense_Mutation_p.K539N|GLS_uc002usg.1_Missense_Mutation_p.K200N|GLS_uc002ush.2_Missense_Mutation_p.K200N|GLS_uc010zgi.1_Missense_Mutation_p.K110N|GLS_uc010zgj.1_Missense_Mutation_p.K44N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	539					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191819388	191819388	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191819388T>C	uc002usf.2	+	16	2053	c.1789_splice	c.e16+2	p.G597_splice	GLS_uc002ush.2_Splice_Site_p.G258_splice|GLS_uc010zgi.1_Silent_p.G168G|GLS_uc010zgj.1_Splice_Site_p.G102_splice	NM_014905	NP_055720			glutaminase precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191863025	191863025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191863025G>A	uc002usj.2	-	8	939	c.551C>T	c.(550-552)ACC>ATC	p.T184I	STAT1_uc010fse.1_Missense_Mutation_p.T184I|STAT1_uc002usk.2_Missense_Mutation_p.T184I|STAT1_uc002usl.2_Missense_Mutation_p.T186I|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	184					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)													---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191937856	191937856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191937856G>A	uc002usm.1	-	5	687	c.433C>T	c.(433-435)CAC>TAC	p.H145Y	STAT4_uc002usn.1_Missense_Mutation_p.H145Y|STAT4_uc002uso.2_Missense_Mutation_p.H145Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
STAT4	6775	broad.mit.edu	37	2	192011389	192011389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192011389T>C	uc002usm.1	-	3	477	c.223A>G	c.(223-225)AAA>GAA	p.K75E	STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.K75E|STAT4_uc002uso.2_Missense_Mutation_p.K75E|STAT4_uc002usp.3_Missense_Mutation_p.K75E|STAT4_uc010zgl.1_Missense_Mutation_p.K75E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	75					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192255027	192255027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192255027A>C	uc010fsg.2	+	18	2046	c.1791A>C	c.(1789-1791)AAA>AAC	p.K597N	MYO1B_uc002usq.2_Missense_Mutation_p.K597N|MYO1B_uc002usr.2_Missense_Mutation_p.K597N|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	597	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
SDPR	8436	broad.mit.edu	37	2	192700777	192700777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192700777A>T	uc002utb.2	-	2	1480	c.1150T>A	c.(1150-1152)TCA>ACA	p.S384T		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	384						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)													---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196573391	196573391	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196573391A>G	uc002utg.3	+	5	1612	c.1398A>G	c.(1396-1398)GGA>GGG	p.G466G	SLC39A10_uc002uth.3_Silent_p.G466G|SLC39A10_uc010zgp.1_Silent_p.G16G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	466	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)															---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196619245	196619245	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196619245T>C	uc002utj.3	-						DNAH7_uc002uti.3_Intron	NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196759893	196759893	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196759893T>A	uc002utj.3	-	30	4804	c.4703A>T	c.(4702-4704)GAT>GTT	p.D1568V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196883924	196883924	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196883924G>A	uc002utj.3	-	9	940	c.839C>T	c.(838-840)GCT>GTT	p.A280V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197004488	197004488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197004488T>C	uc002utk.2	-	7	1016	c.692A>G	c.(691-693)CAC>CGC	p.H231R	STK17B_uc010fsh.2_Missense_Mutation_p.H231R	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197010665	197010665	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197010665A>C	uc002utk.2	-	4	774	c.450T>G	c.(448-450)CAT>CAG	p.H150Q	STK17B_uc010fsh.2_Missense_Mutation_p.H150Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	150	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197080627	197080627	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197080627G>A	uc002utm.1	-	28	4752	c.4569C>T	c.(4567-4569)TTC>TTT	p.F1523F	HECW2_uc002utl.1_Silent_p.F1167F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1523	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197559769	197559769	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197559769G>T	uc002utp.1	+	14	1645	c.1510_splice	c.e14-1	p.V504_splice	CCDC150_uc010zgq.1_Splice_Site|CCDC150_uc010zgr.1_Splice_Site|CCDC150_uc010zgs.1_Splice_Site_p.V172_splice|CCDC150_uc010zgt.1_5'Flank	NM_001080539	NP_001074008			coiled-coil domain containing 150												0																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197584353	197584353	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197584353C>T	uc002utp.1	+	19	2263	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	CCDC150_uc010zgs.1_Missense_Mutation_p.R357W|CCDC150_uc010zgt.1_Missense_Mutation_p.R127W|CCDC150_uc002utq.1_Missense_Mutation_p.R25W|CCDC150_uc002utr.1_Missense_Mutation_p.R25W	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	710											0																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634713	197634713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634713A>C	uc002uts.2	-	16	2401	c.2311T>G	c.(2311-2313)TTC>GTC	p.F771V	GTF3C3_uc010zgu.1_Missense_Mutation_p.F742V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	771						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634743	197634743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634743G>A	uc002uts.2	-	16	2371	c.2281C>T	c.(2281-2283)CGC>TGC	p.R761C	GTF3C3_uc010zgu.1_Missense_Mutation_p.R732C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	761	TPR 10.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197767343	197767343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197767343T>C	uc002utw.2	-	5	887	c.773A>G	c.(772-774)AAA>AGA	p.K258R	PGAP1_uc002utx.2_Missense_Mutation_p.K84R|PGAP1_uc002uty.1_Missense_Mutation_p.K258R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.K84R	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	258	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878384	197878384	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197878384T>C	uc002uua.1	-	18	1777	c.1700A>G	c.(1699-1701)GAC>GGC	p.D567G	ANKRD44_uc002utz.3_Missense_Mutation_p.D299G	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	592	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198273121	198273121	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198273121T>C	uc002uue.2	-	8	1137	c.1089A>G	c.(1087-1089)CCA>CCG	p.P363P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	363	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361942	198361942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361942T>C	uc002uui.2	-	3	486	c.349A>G	c.(349-351)ACT>GCT	p.T117A	HSPD1_uc002uuj.2_Missense_Mutation_p.T117A|HSPD1_uc010zgx.1_Missense_Mutation_p.T117A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.T117A|HSPD1_uc010zgy.1_Missense_Mutation_p.T117A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361971	198361971	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361971T>G	uc002uui.2	-	3	457	c.320A>C	c.(319-321)GAA>GCA	p.E107A	HSPD1_uc002uuj.2_Missense_Mutation_p.E107A|HSPD1_uc010zgx.1_Missense_Mutation_p.E107A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.E107A|HSPD1_uc010zgy.1_Missense_Mutation_p.E107A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	107					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201337675	201337675	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201337675A>G	uc002uvn.3	+	12	1533	c.1181A>G	c.(1180-1182)CAC>CGC	p.H394R	SPATS2L_uc010fst.2_Missense_Mutation_p.H394R|SPATS2L_uc002uvo.3_Missense_Mutation_p.H334R|SPATS2L_uc002uvp.3_Missense_Mutation_p.H394R|SPATS2L_uc002uvq.3_Missense_Mutation_p.H325R|SPATS2L_uc002uvr.3_Missense_Mutation_p.H394R|SPATS2L_uc010zhc.1_Missense_Mutation_p.H424R	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	394						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3																		---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201685984	201685984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201685984A>C	uc010zhg.1	+	11	1332	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	BZW1_uc002uwc.2_Missense_Mutation_p.E329A	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	395	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201718027	201718027	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201718027A>T	uc002uwe.2	-	13					CLK1_uc002uwd.2_3'UTR|CLK1_uc010zhi.1_3'UTR|CLK1_uc002uwf.2_3'UTR|CLK1_uc002uwg.2_3'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062			CDC-like kinase 1 isoform 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201726528	201726528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201726528C>A	uc002uwe.2	-	2	239	c.58G>T	c.(58-60)GGA>TGA	p.G20*	CLK1_uc010zhi.1_Nonsense_Mutation_p.G62*|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	20					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CASP10	843	broad.mit.edu	37	2	202050789	202050789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202050789T>C	uc002uxl.1	+	2	707	c.289T>C	c.(289-291)TGT>CGT	p.C97R	CASP10_uc002uxi.1_Missense_Mutation_p.C97R|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.C97R|CASP10_uc002uxk.1_Missense_Mutation_p.C97R|CASP10_uc010fta.1_Missense_Mutation_p.C97R|CASP10_uc002uxm.1_Missense_Mutation_p.C97R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	97	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6																		---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136301	202136301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202136301T>C	uc002uxr.1	+	4	577	c.368T>C	c.(367-369)CTT>CCT	p.L123P	CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc002uxy.1_Missense_Mutation_p.L123P|CASP8_uc002uxx.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	123	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5															HNSCC(4;0.00038)			---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202483730	202483730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202483730G>A	uc002uye.2	-	1	172	c.124C>T	c.(124-126)CAC>TAC	p.H42Y	ALS2CR11_uc002uyf.2_Missense_Mutation_p.H42Y|ALS2CR11_uc010fti.2_Missense_Mutation_p.H42Y	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	42										large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202510022	202510022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202510022C>T	uc002uyk.3	-	22	2033	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.A227T|MPP4_uc010ftj.2_Missense_Mutation_p.A602T|MPP4_uc010zhq.1_Missense_Mutation_p.A578T|MPP4_uc010zhr.1_Missense_Mutation_p.A585T|MPP4_uc010zhs.1_Missense_Mutation_p.A534T|MPP4_uc002uyj.3_Missense_Mutation_p.A574T|MPP4_uc010zht.1_Missense_Mutation_p.A551T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.A565T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	609	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0																		---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588154	202588154	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202588154A>G	uc002uyo.2	-	22	3879	c.3523T>C	c.(3523-3525)TAT>CAT	p.Y1175H	ALS2_uc002uyp.3_Missense_Mutation_p.Y1175H|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1175	MORN 6.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---
NOP58	51602	broad.mit.edu	37	2	203160406	203160406	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203160406T>C	uc002uzb.2	+	10	1067	c.917T>C	c.(916-918)TTA>TCA	p.L306S		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	306	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0																		---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203630429	203630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203630429T>C	uc010zhx.1	+	8	1722	c.1712T>C	c.(1711-1713)GTC>GCC	p.V571A		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	571										ovary(1)	1																		---	---	---	---
ICA1L	130026	broad.mit.edu	37	2	203693595	203693595	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203693595A>G	uc002uzh.1	-	3	302	c.138T>C	c.(136-138)GAT>GAC	p.D46D	ICA1L_uc002uzi.1_Silent_p.D46D|ICA1L_uc002uzj.2_Silent_p.D46D|ICA1L_uc002uzk.1_Silent_p.D46D	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	46	AH.										0																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204305854	204305854	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204305854G>A	uc002vad.2	-	14	2284	c.2059C>T	c.(2059-2061)CCA>TCA	p.P687S		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	687					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204309652	204309652	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204309652A>C	uc002vad.2	-	13	1940	c.1715T>G	c.(1714-1716)ATT>AGT	p.I572S	RAPH1_uc002vae.2_Missense_Mutation_p.I624S|RAPH1_uc002vaf.2_Missense_Mutation_p.I624S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	572					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	205986606	205986606	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:205986606A>G	uc002var.1	+	8	1305	c.1098A>G	c.(1096-1098)TCA>TCG	p.S366S	PARD3B_uc010fub.1_Silent_p.S366S|PARD3B_uc002vao.1_Silent_p.S366S|PARD3B_uc002vap.1_Silent_p.S366S|PARD3B_uc002vaq.1_Silent_p.S366S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	366					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207011675	207011675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207011675G>A	uc002vbe.2	-	8	816	c.689C>T	c.(688-690)GCC>GTC	p.A230V	NDUFS1_uc010ziq.1_Missense_Mutation_p.A244V|NDUFS1_uc010zir.1_Missense_Mutation_p.A194V|NDUFS1_uc010zis.1_Missense_Mutation_p.A173V|NDUFS1_uc010zit.1_Missense_Mutation_p.A119V|NDUFS1_uc010ziu.1_Missense_Mutation_p.A114V	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	230					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207173626	207173626	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207173626T>G	uc002vbp.2	+	5	4624	c.4374T>G	c.(4372-4374)TCT>TCG	p.S1458S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1458							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174279	207174279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429738	207429738	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429738G>A	uc002vbq.2	+						ADAM23_uc010ziv.1_Intron	NM_003812	NP_003803			ADAM metallopeptidase domain 23 preproprotein						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429771	207429771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429771G>A	uc002vbq.2	+	14	1596	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	458	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207530748	207530748	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207530748A>C	uc002vbr.1	-	10	1103	c.986T>G	c.(985-987)CTT>CGT	p.L329R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	329	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---
CPO	130749	broad.mit.edu	37	2	207825666	207825666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207825666A>G	uc002vby.2	+	6	620	c.574A>G	c.(574-576)AGT>GGT	p.S192G		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	192					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)														---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208432253	208432253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208432253C>T	uc002vcc.2	+	5	621	c.370C>T	c.(370-372)CGA>TGA	p.R124*	CREB1_uc010ziz.1_Nonsense_Mutation_p.R108*|CREB1_uc002vcd.2_Nonsense_Mutation_p.R110*|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	124	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208841586	208841586	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208841586C>A	uc002vcl.2	-	3	1825	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	PLEKHM3_uc002vcm.2_Missense_Mutation_p.Q445H	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	445	PH 2.				intracellular signal transduction		metal ion binding			ovary(1)	1																		---	---	---	---
CRYGC	1420	broad.mit.edu	37	2	208993087	208993087	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208993087C>T	uc002vco.3	-	3	403	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	122	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)														---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113132	209113132	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209113132T>C	uc002vcs.2	-	4	621	c.375A>G	c.(373-375)GTA>GTG	p.V125V	IDH1_uc002vct.2_Silent_p.V125V|IDH1_uc002vcu.2_Silent_p.V125V	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	125					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)				Mis		gliobastoma 								---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209153549	209153549	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209153549T>A	uc002vcz.2	+						PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Intron|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855			phosphatidylinositol-3-phosphate 5-kinase type						cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209165682	209165682	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209165682C>A	uc002vcz.2	+	9	1230	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	PIKFYVE_uc010fun.1_Missense_Mutation_p.L39M|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L358M|PIKFYVE_uc002vcv.2_Missense_Mutation_p.L261M|PIKFYVE_uc002vcw.2_Missense_Mutation_p.L358M|PIKFYVE_uc002vcx.2_Missense_Mutation_p.L272M	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	358					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209271804	209271804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209271804T>C	uc002vdb.2	+	1	249	c.36T>C	c.(34-36)GGT>GGC	p.G12G	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	12						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209307125	209307125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353840	209353840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353840C>T	uc002vdb.2	+	11	1393	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	PTH2R_uc010zjb.1_Missense_Mutation_p.R405C|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	394	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353869	209353869	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353869C>T	uc002vdb.2	+	11	1422	c.1209C>T	c.(1207-1209)TCC>TCT	p.S403S	PTH2R_uc010zjb.1_Silent_p.S414S|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	403	Helical; Name=7; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560092	210560092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210560092G>T	uc002vde.1	+	7	3446	c.3198G>T	c.(3196-3198)AGG>AGT	p.R1066S	MAP2_uc002vdc.1_Missense_Mutation_p.R1066S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1062S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1066					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210574631	210574631	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210574631A>G	uc002vde.1	+						MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210588382	210588382	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210588382A>T	uc002vde.1	+						MAP2_uc002vdd.1_Missense_Mutation_p.N414Y|MAP2_uc002vdf.1_Missense_Mutation_p.N357Y|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210887769	210887769	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210887769T>C	uc002vds.2	-	15	3076	c.2868A>G	c.(2866-2868)GTA>GTG	p.V956V	C2orf67_uc002vdt.2_Silent_p.V914V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	956										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210892042	210892042	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210892042T>C	uc002vds.2	-	12	2637	c.2429A>G	c.(2428-2430)GAA>GGA	p.E810G	C2orf67_uc002vdt.2_Missense_Mutation_p.E768G	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	810										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210896271	210896271	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210896271C>G	uc002vds.2	-	9	2238	c.2030_splice	c.e9-1	p.V677_splice	C2orf67_uc002vdt.2_Intron|uc002vdu.1_Intron	NM_152519	NP_689732			hypothetical protein LOC151050											ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211319880	211319880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211319880G>A	uc010zjh.1	-	4	433	c.358C>T	c.(358-360)CTA>TTA	p.L120L	LANCL1_uc002ved.2_Silent_p.L120L|LANCL1_uc010fuq.2_Silent_p.L120L	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	120						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211457691	211457691	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211457691A>G	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211465360	211465360	+	Missense_Mutation	SNP	C	T	T	rs121912592		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211465360C>T	uc002vee.3	+	15	1763	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	CPS1_uc010fur.2_Missense_Mutation_p.T550M|CPS1_uc010fus.2_Missense_Mutation_p.T93M	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	544			T -> M (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212293210	212293210	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212293210T>A	uc002veg.1	-	22	2742	c.2644_splice	c.e22-1	p.M882_splice	ERBB4_uc002veh.1_Splice_Site_p.M882_splice|ERBB4_uc010zji.1_Splice_Site_p.M872_splice|ERBB4_uc010zjj.1_Splice_Site_p.M872_splice	NM_005235	NP_005226			v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212570080	212570080	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212570080C>A	uc002veg.1	-	10	1259	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D	ERBB4_uc002veh.1_Missense_Mutation_p.E387D|ERBB4_uc010zji.1_Missense_Mutation_p.E387D|ERBB4_uc010zjj.1_Missense_Mutation_p.E387D|ERBB4_uc010fut.1_Missense_Mutation_p.E387D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	387	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213914553	213914553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:213914553C>T	uc002vem.2	-	5	627	c.458G>A	c.(457-459)GGC>GAC	p.G153D	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.G100D|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.G127D|IKZF2_uc002vel.2_Missense_Mutation_p.G74D|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.G127D|IKZF2_uc002ven.2_Missense_Mutation_p.G127D	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)														---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215275016	215275016	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215275016G>A	uc002veq.2	+	16	1965	c.1873G>A	c.(1873-1875)GGC>AGC	p.G625S	SPAG16_uc002ver.2_Missense_Mutation_p.G571S|SPAG16_uc010zjk.1_Missense_Mutation_p.G531S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	625	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215833442	215833442	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215833442A>G	uc002vew.2	-	38	5998	c.5778_splice	c.e38+1	p.K1926_splice	ABCA12_uc002vev.2_Splice_Site_p.K1608_splice|ABCA12_uc010zjn.1_Splice_Site_p.K853_splice	NM_173076	NP_775099			ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215847077	215847077	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215847077A>T	uc002vew.2	-	30	4633	c.4413T>A	c.(4411-4413)CAT>CAA	p.H1471Q	ABCA12_uc002vev.2_Missense_Mutation_p.H1153Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H398Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1471	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215851381	215851381	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215851381C>T	uc002vew.2	-	28	4268	c.4048G>A	c.(4048-4050)GGG>AGG	p.G1350R	ABCA12_uc002vev.2_Missense_Mutation_p.G1032R|ABCA12_uc010zjn.1_Missense_Mutation_p.G277R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1350	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215855563	215855563	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215855563A>G	uc002vew.2	-	24	3707	c.3487T>C	c.(3487-3489)TAT>CAT	p.Y1163H	ABCA12_uc002vev.2_Missense_Mutation_p.Y845H|ABCA12_uc010zjn.1_Missense_Mutation_p.Y90H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1163	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215901775	215901775	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215901775A>G	uc002vew.2	-	8	1107	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	296					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.V296V(1)		ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215928846	215928846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215928846T>C	uc002vew.2	-	3	480	c.260A>G	c.(259-261)TAT>TGT	p.Y87C	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	87					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ATIC	471	broad.mit.edu	37	2	216211630	216211630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216211630C>T	uc002vex.3	+	14	1643	c.1469C>T	c.(1468-1470)GCC>GTC	p.A490V	ATIC_uc010zjo.1_Missense_Mutation_p.A431V|ATIC_uc002vey.3_Missense_Mutation_p.A489V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	490					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)			T	ALK	ALCL								---	---	---	---
FN1	2335	broad.mit.edu	37	2	216241350	216241350	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216241350T>C	uc002vfa.2	-	36	6024	c.5758A>G	c.(5758-5760)ACC>GCC	p.T1920A	FN1_uc002vfb.2_Missense_Mutation_p.T1739A|FN1_uc002vfc.2_Missense_Mutation_p.T1739A|FN1_uc002vfd.2_Missense_Mutation_p.T1920A|FN1_uc002vfe.2_Missense_Mutation_p.T1829A|FN1_uc002vff.2_Missense_Mutation_p.T1829A|FN1_uc002vfg.2_Missense_Mutation_p.T1739A|FN1_uc002vfh.2_Missense_Mutation_p.T1739A|FN1_uc002vfi.2_Missense_Mutation_p.T1920A|FN1_uc002vfj.2_Missense_Mutation_p.T1830A|FN1_uc002vez.2_Missense_Mutation_p.T114A|FN1_uc010zjp.1_Missense_Mutation_p.T457A|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.T282A|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216245532	216245532	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216245532A>T	uc002vfa.2	-	33	5700	c.5434_splice	c.e33+1	p.A1812_splice	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Splice_Site_p.A1812_splice|FN1_uc002vfe.2_Splice_Site_p.A1721_splice|FN1_uc002vff.2_Splice_Site_p.A1721_splice|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Splice_Site_p.A1812_splice|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Splice_Site_p.A174_splice|FN1_uc010fvd.1_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216269191	216269191	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216269191A>G	uc002vfa.2	-	20	3440	c.3174T>C	c.(3172-3174)CCT>CCC	p.P1058P	FN1_uc002vfb.2_Silent_p.P1058P|FN1_uc002vfc.2_Silent_p.P1058P|FN1_uc002vfd.2_Silent_p.P1058P|FN1_uc002vfe.2_Silent_p.P1058P|FN1_uc002vff.2_Silent_p.P1058P|FN1_uc002vfg.2_Silent_p.P1058P|FN1_uc002vfh.2_Silent_p.P1058P|FN1_uc002vfi.2_Silent_p.P1058P|FN1_uc002vfj.2_Silent_p.P1058P	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1058	|Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216272839	216272839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216272839G>A	uc002vfa.2	-	17	2776	c.2510C>T	c.(2509-2511)CCC>CTC	p.P837L	FN1_uc002vfb.2_Missense_Mutation_p.P837L|FN1_uc002vfc.2_Missense_Mutation_p.P837L|FN1_uc002vfd.2_Missense_Mutation_p.P837L|FN1_uc002vfe.2_Missense_Mutation_p.P837L|FN1_uc002vff.2_Missense_Mutation_p.P837L|FN1_uc002vfg.2_Missense_Mutation_p.P837L|FN1_uc002vfh.2_Missense_Mutation_p.P837L|FN1_uc002vfi.2_Missense_Mutation_p.P837L|FN1_uc002vfj.2_Missense_Mutation_p.P837L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	837	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216273076	216273076	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216273076A>T	uc002vfa.2	-	16	2639	c.2373T>A	c.(2371-2373)TAT>TAA	p.Y791*	FN1_uc002vfb.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfc.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfd.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfe.2_Nonsense_Mutation_p.Y791*|FN1_uc002vff.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfg.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfh.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfi.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfj.2_Nonsense_Mutation_p.Y791*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	791	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274843	216274843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216274843A>G	uc002vfa.2	-						FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Intron|FN1_uc002vfj.2_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
MREG	55686	broad.mit.edu	37	2	216810365	216810365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216810365A>G	uc002vfo.2	-	4	735	c.439T>C	c.(439-441)TTA>CTA	p.L147L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	147						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)														---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216981555	216981555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216981555A>G	uc002vfy.2	+	3	449	c.309A>G	c.(307-309)CAA>CAG	p.Q103Q	XRCC5_uc002vfz.2_5'Flank	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	103					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)									Direct_reversal_of_damage|NHEJ					---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217280157	217280157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217280157A>G	uc002vgc.3	+	3	1060	c.730A>G	c.(730-732)AAC>GAC	p.N244D	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N244D|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N244D	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	244					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)										Schimke_Immuno-Osseous_Dysplasia				---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218669296	218669296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218669296G>A	uc002vgt.2	-	33	5492	c.5094C>T	c.(5092-5094)GGC>GGT	p.G1698G	TNS1_uc002vgr.2_Silent_p.G1684G|TNS1_uc002vgs.2_Silent_p.G1677G|TNS1_uc002vgq.2_Silent_p.G198G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1698						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712549	218712549	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218712549C>T	uc002vgt.2	-	17	2714	c.2316G>A	c.(2314-2316)TCG>TCA	p.S772S	TNS1_uc002vgr.2_Silent_p.S772S|TNS1_uc002vgs.2_Silent_p.S772S|TNS1_uc010zjv.1_Silent_p.S772S|TNS1_uc010fvj.1_Silent_p.S840S|TNS1_uc010fvk.1_Silent_p.S897S|TNS1_uc010fvi.1_Silent_p.S459S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	772						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	218999581	218999581	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218999581T>A	uc002vgz.1	+	4	282	c.57T>A	c.(55-57)GAT>GAA	p.D19E	CXCR2_uc002vha.1_Missense_Mutation_p.D19E|CXCR2_uc002vhb.1_Missense_Mutation_p.D19E	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	19	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	219000013	219000013	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219000013A>C	uc002vgz.1	+	4	714	c.489A>C	c.(487-489)AAA>AAC	p.K163N	CXCR2_uc002vha.1_Missense_Mutation_p.K163N|CXCR2_uc002vhb.1_Missense_Mutation_p.K163N	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	163	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR1	3577	broad.mit.edu	37	2	219029676	219029676	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219029676G>T	uc002vhc.2	-	2	378	c.259C>A	c.(259-261)CTC>ATC	p.L87I		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	87	Helical; Name=2; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2																		---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219209631	219209631	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219209631G>T	uc002vhn.2	+	10	1229	c.1085G>T	c.(1084-1086)GGG>GTG	p.G362V	PNKD_uc002vhq.2_Missense_Mutation_p.G338V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	362						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CTDSP1	58190	broad.mit.edu	37	2	219267084	219267084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219267084G>A	uc002vhy.2	+	4	670	c.334G>A	c.(334-336)GCG>ACG	p.A112T	CTDSP1_uc002vhx.2_Missense_Mutation_p.A111T|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	112	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219350422	219350422	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219350422A>T	uc002vie.2	-	16	2088	c.1635T>A	c.(1633-1635)TGT>TGA	p.C545*	USP37_uc010fvs.1_Nonsense_Mutation_p.C545*|USP37_uc010zkf.1_Nonsense_Mutation_p.C545*|USP37_uc002vif.2_Nonsense_Mutation_p.C545*|USP37_uc002vig.2_Nonsense_Mutation_p.C473*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	545					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219411702	219411702	+	Missense_Mutation	SNP	C	T	T	rs141437175		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219411702C>T	uc002vie.2	-	7	995	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	USP37_uc010fvs.1_Missense_Mutation_p.R181Q|USP37_uc010zkf.1_Missense_Mutation_p.R181Q|USP37_uc002vif.2_Missense_Mutation_p.R181Q|USP37_uc002vig.2_Missense_Mutation_p.R109Q|USP37_uc010zkg.1_Missense_Mutation_p.R181Q	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
PLCD4	84812	broad.mit.edu	37	2	219487417	219487417	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219487417A>G	uc002vij.1	+	6	783	c.588A>G	c.(586-588)GTA>GTG	p.V196V	PLCD4_uc002vik.1_Silent_p.V43V|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	196	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508288	219508288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219508288A>T	uc002vin.2	-	8	3387	c.2951T>A	c.(2950-2952)GTC>GAC	p.V984D	ZNF142_uc002vil.2_Missense_Mutation_p.V945D|ZNF142_uc010fvt.2_Missense_Mutation_p.V821D|ZNF142_uc002vim.2_Missense_Mutation_p.V821D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219526039	219526039	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219526039G>A	uc002vio.2	+						ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Intron|BCS1L_uc002viq.2_Intron|BCS1L_uc010fvu.2_Intron|BCS1L_uc010fvv.2_Intron|BCS1L_uc002vir.2_Intron|BCS1L_uc002vis.2_Intron	NM_004328	NP_004319			BCS1-like						mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528796	219528796	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528796G>T	uc002vit.2	-	10	1352	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	RNF25_uc010fvw.2_Missense_Mutation_p.R310S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	422					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528942	219528942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528942G>A	uc002vit.2	-	10	1206	c.1118C>T	c.(1117-1119)CCA>CTA	p.P373L	RNF25_uc010fvw.2_Missense_Mutation_p.P261L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	373					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219558684	219558684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219558684C>T	uc002viu.2	+	19	2580	c.2314C>T	c.(2314-2316)CGG>TGG	p.R772W	STK36_uc002viv.2_Missense_Mutation_p.R772W|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219566579	219566579	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219566579T>A	uc002viu.2	+						STK36_uc002viv.2_Intron|STK36_uc002viw.2_Intron|STK36_uc002vix.2_Intron	NM_015690	NP_056505			serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219603528	219603528	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219603528A>G	uc002viy.2	+	3	1499	c.1129A>G	c.(1129-1131)AGG>GGG	p.R377G	TTLL4_uc010zkl.1_Missense_Mutation_p.R212G|TTLL4_uc010fvx.2_Missense_Mutation_p.R377G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219735872	219735872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219735872C>T	uc002vjc.1	+	2	419	c.204C>T	c.(202-204)GGC>GGT	p.G68G		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	68					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219736234	219736234	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219736234C>T	uc002vjc.1	+	3	544	c.329C>T	c.(328-330)GCC>GTC	p.A110V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	110					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219869020	219869020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219869020T>C	uc002vjl.1	-	33	5293	c.5209A>G	c.(5209-5211)AGC>GGC	p.S1737G	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1737						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SLC23A3	151295	broad.mit.edu	37	2	220033490	220033490	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220033490G>C	uc010zks.1	-	5	669	c.558C>G	c.(556-558)GGC>GGG	p.G186G	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Silent_p.G194G|SLC23A3_uc010fwb.2_Silent_p.G186G|SLC23A3_uc002vjs.1_Missense_Mutation_p.P39A|SLC23A3_uc002vjt.1_Silent_p.G44G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	186	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220046854	220046854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220046854T>C	uc002vjw.3	+	9	1271	c.1135T>C	c.(1135-1137)TCA>CCA	p.S379P	FAM134A_uc010fwc.2_Missense_Mutation_p.S172P|FAM134A_uc002vjx.2_Missense_Mutation_p.S172P	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	379						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220149476	220149476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220349088	220349088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220349088G>A	uc010fwg.2	+	30	6903	c.6903G>A	c.(6901-6903)CCG>CCA	p.P2301P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2301	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220354263	220354263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220354263A>G	uc010fwg.2	+	36	8523	c.8523A>G	c.(8521-8523)CCA>CCG	p.P2841P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2841	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220357350	220357350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220357350C>A	uc010fwg.2	+	41	9646	c.9646C>A	c.(9646-9648)CCA>ACA	p.P3216T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3216	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220366625	220366625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220366625C>T	uc002vlr.2	+	5	363	c.295C>T	c.(295-297)CGA>TGA	p.R99*	GMPPA_uc002vls.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlt.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlu.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlv.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Nonsense_Mutation_p.R99*	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	99					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222310897	222310897	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222310897T>C	uc002vmq.2	-	9	1762	c.1720A>G	c.(1720-1722)AGT>GGT	p.S574G	EPHA4_uc002vmr.2_Missense_Mutation_p.S574G|EPHA4_uc010zlm.1_Missense_Mutation_p.S515G|EPHA4_uc010zln.1_Missense_Mutation_p.S574G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	574	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222321482	222321482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222321482T>C	uc002vmq.2	-	7	1496	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	EPHA4_uc002vmr.2_Missense_Mutation_p.E485G|EPHA4_uc010zlm.1_Missense_Mutation_p.E426G|EPHA4_uc010zln.1_Missense_Mutation_p.E485G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	485	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347160	222347160	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347160G>T	uc002vmq.2	-	5	1272	c.1230C>A	c.(1228-1230)ACC>ACA	p.T410T	EPHA4_uc002vmr.2_Silent_p.T410T|EPHA4_uc010zlm.1_Silent_p.T351T|EPHA4_uc010zln.1_Silent_p.T410T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	410	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347301	222347301	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347301A>G	uc002vmq.2	-	5	1131	c.1089T>C	c.(1087-1089)AAT>AAC	p.N363N	EPHA4_uc002vmr.2_Silent_p.N363N|EPHA4_uc010zlm.1_Silent_p.N304N|EPHA4_uc010zln.1_Silent_p.N363N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
FARSB	10056	broad.mit.edu	37	2	223499245	223499245	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223499245A>G	uc002vne.1	-	6	506	c.471T>C	c.(469-471)GTT>GTC	p.V157V	FARSB_uc010zlq.1_Silent_p.V177V|FARSB_uc002vnf.1_Silent_p.V58V	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	157					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)													---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223559222	223559222	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223559222G>T	uc010fws.1	+	4	668	c.620G>T	c.(619-621)CGG>CTG	p.R207L	MOGAT1_uc010fwt.1_Missense_Mutation_p.R167L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	207					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)														---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223781031	223781031	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223781031T>C	uc002vni.2	+						ACSL3_uc002vnj.2_Intron	NM_004457	NP_004448			acyl-CoA synthetase long-chain family member 3						long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)			T	ETV1	prostate								---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224462954	224462954	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224462954A>T	uc002vnm.2	-	2	1180	c.1047T>A	c.(1045-1047)TAT>TAA	p.Y349*		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	349					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224863058	224863058	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224863058T>C	uc002vnu.2	-	3	504	c.261A>G	c.(259-261)GGA>GGG	p.G87G	SERPINE2_uc002vnt.2_Silent_p.G87G|SERPINE2_uc010zlr.1_Silent_p.G99G|SERPINE2_uc002vnv.2_Silent_p.G87G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	87					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225630541	225630541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225630541T>C	uc010fwz.1	-	56	6697	c.6458A>G	c.(6457-6459)GAC>GGC	p.D2153G	DOCK10_uc002vob.2_Missense_Mutation_p.D2147G|DOCK10_uc002voa.2_Silent_p.G834G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2153							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226273691	226273691	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226273691A>G	uc002voe.2	+	2	270	c.95A>G	c.(94-96)GAT>GGT	p.D32G	KIAA1486_uc010fxa.1_Missense_Mutation_p.D27G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	32								p.D32N(1)		ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226446929	226446929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446929G>A	uc002voe.2	+	4	971	c.796G>A	c.(796-798)GCC>ACC	p.A266T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A36T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	266										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226447576	226447576	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226447576G>A	uc002voe.2	+	4	1618	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	481										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660190	227660190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227660190G>A	uc002voh.3	-	1	3317	c.3265C>T	c.(3265-3267)CGT>TGT	p.R1089C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1089					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663097	227663097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663097G>A	uc002voh.3	-	1	410	c.358C>T	c.(358-360)CAC>TAC	p.H120Y		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	120	Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)												OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227732001	227732001	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227732001T>A	uc002voi.2	+	3	654	c.533T>A	c.(532-534)GTC>GAC	p.V178D	RHBDD1_uc010fxc.2_Missense_Mutation_p.V178D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	178						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227919385	227919385	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227919385G>A	uc010zlt.1	-	31	3439	c.2785C>T	c.(2785-2787)CCT>TCT	p.P929S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	929	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
MFF	56947	broad.mit.edu	37	2	228220472	228220472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228220472C>T	uc002vos.2	+	10	1310	c.892C>T	c.(892-894)CGA>TGA	p.R298*	MFF_uc002vot.2_Nonsense_Mutation_p.R247*|MFF_uc002vou.2_Nonsense_Mutation_p.R220*|MFF_uc002vov.2_Nonsense_Mutation_p.R194*|MFF_uc002vow.2_Nonsense_Mutation_p.R199*|MFF_uc002vox.2_Nonsense_Mutation_p.R174*|MFF_uc002voy.2_Nonsense_Mutation_p.R298*|MFF_uc002voz.2_Nonsense_Mutation_p.R174*|MFF_uc002vpa.2_Nonsense_Mutation_p.R86*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298	Potential.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1																		---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228680264	228680264	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228680264C>A	uc002vpl.2	+	2	241	c.171C>A	c.(169-171)GGC>GGA	p.G57G	CCL20_uc002vpm.2_Silent_p.G56G	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	57					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230910760	230910760	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230910760A>G	uc002vqd.1	-	4	1445	c.1082T>C	c.(1081-1083)ATA>ACA	p.I361T	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I361T|SLC16A14_uc002vqf.2_Missense_Mutation_p.I361T	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	361	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230923905	230923905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230923905C>T	uc002vqd.1	-	2	527	c.164G>A	c.(163-165)GGT>GAT	p.G55D	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G55D|SLC16A14_uc002vqf.2_Missense_Mutation_p.G55D	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	55	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231036441	231036441	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231036441T>C	uc002vqh.3	-						SP110_uc002vqg.3_Missense_Mutation_p.S620G	NM_004509	NP_004500			SP110 nuclear body protein isoform a						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231042316	231042316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231042316T>C	uc002vqh.3	-	14	1768	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D	SP110_uc002vqg.3_Missense_Mutation_p.N510D|SP110_uc002vqi.3_Missense_Mutation_p.N510D|SP110_uc010fxk.2_Missense_Mutation_p.N508D|SP110_uc010fxj.2_Missense_Mutation_p.N153D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP140	11262	broad.mit.edu	37	2	231134660	231134660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134660G>A	uc002vql.2	+	14	1551	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.G365D|SP140_uc002vqm.2_Missense_Mutation_p.G419D|SP140_uc010fxl.2_Missense_Mutation_p.G452D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	479					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231193506	231193506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231193506G>A	uc010fxm.1	+	2	158	c.67G>A	c.(67-69)GAG>AAG	p.E23K	SP140_uc010zma.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231253321	231253321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231253321G>T	uc010fxm.1	+	10	923	c.832G>T	c.(832-834)GCT>TCT	p.A278S	SP140L_uc010fxo.1_Missense_Mutation_p.A85S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	278						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231948386	231948386	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231948386T>C	uc002vrn.1	+	14	1762	c.1631T>C	c.(1630-1632)ATT>ACT	p.I544T	PSMD1_uc002vrm.1_Missense_Mutation_p.I544T|PSMD1_uc010fxu.1_Missense_Mutation_p.I408T	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	544	PC 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)													---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231988258	231988258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231988258A>G	uc002vro.2	-	2	726	c.221T>C	c.(220-222)CTT>CCT	p.L74P	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L74P	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	74	Helical; Name=1; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)													---	---	---	---
NCL	4691	broad.mit.edu	37	2	232325554	232325554	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232325554T>A	uc002vru.2	-	4	778	c.637A>T	c.(637-639)ACT>TCT	p.T213S	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	213					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)														---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458471	232458471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232458471A>G	uc002vrz.2	+	1	860	c.809A>G	c.(808-810)AAC>AGC	p.N270S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	270										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)														---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233194691	233194691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233194691C>T	uc010fxz.2	+	15	2184	c.1908C>T	c.(1906-1908)TCC>TCT	p.S636S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	636							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)														---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233274458	233274458	+	Missense_Mutation	SNP	C	T	T	rs138133953	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233274458C>T	uc002vss.3	+	11	1528	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	492					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)													---	---	---	---
ALPI	248	broad.mit.edu	37	2	233322832	233322832	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233322832C>A	uc002vst.3	+	8	1058	c.981C>A	c.(979-981)CTC>CTA	p.L327L	ALPI_uc002vsu.3_Silent_p.L238L	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	327					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)														---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233404465	233404465	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233404465G>T	uc002vsx.1	+	1	29	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CHRNG_uc010fyd.2_Missense_Mutation_p.G3V|CHRNG_uc010fye.1_Missense_Mutation_p.G3V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	3					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)														---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233620987	233620987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233620987G>T	uc002vti.3	+	8	659	c.322G>T	c.(322-324)GGA>TGA	p.G108*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.G108*|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	108	Poly-Gly.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233744335	233744335	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233744335G>A	uc002vts.2	-	15	2245	c.1997C>T	c.(1996-1998)TCC>TTC	p.S666F	NGEF_uc010zmm.1_Missense_Mutation_p.S389F|NGEF_uc010fyg.1_Missense_Mutation_p.S574F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	666	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785033	233785033	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233785033C>T	uc002vts.2	-	5	1037	c.789G>A	c.(787-789)GTG>GTA	p.V263V	NGEF_uc010fyg.1_Silent_p.V171V|NGEF_uc002vtt.2_Silent_p.V171V	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	263	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072495	234072495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234072495G>A	uc010zmo.1	+	11	1536	c.1383G>A	c.(1381-1383)TGG>TGA	p.W461*	INPP5D_uc010zmp.1_Nonsense_Mutation_p.W460*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	461					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)														---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234359623	234359623	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234359623T>C	uc002vui.1	+	17	2106	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	DGKD_uc002vuj.1_Silent_p.S654S|DGKD_uc010fyh.1_Silent_p.S565S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234368890	234368890	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234368890G>A	uc002vui.1	+	24	2892	c.2880G>A	c.(2878-2880)CTG>CTA	p.L960L	DGKD_uc002vuj.1_Silent_p.L916L|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	960				L -> V (in Ref. 1; BAC11809 and 4; BAA11134).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621647	234621647	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621647G>T	uc002vuw.2	+	1	10	c.10G>T	c.(10-12)GGA>TGA	p.G4*	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Nonsense_Mutation_p.G4*	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	4					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621927	234621927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621927C>T	uc002vuw.2	+	1	290	c.290C>T	c.(289-291)ACT>ATT	p.T97I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.T97I	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	97					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236945228	236945228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:236945228A>G	uc002vvs.2	+	14	2264	c.1669A>G	c.(1669-1671)ATC>GTC	p.I557V	AGAP1_uc002vvt.2_Missense_Mutation_p.I504V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	557	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237374169	237374169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237374169C>T	uc002vvz.1	-	6	1087	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	IQCA1_uc002vwb.2_Missense_Mutation_p.R309Q|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R302Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	302							ATP binding			ovary(1)	1																		---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238249610	238249610	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238249610T>A	uc002vwl.2	-	38	8234	c.7949A>T	c.(7948-7950)GAC>GTC	p.D2650V	COL6A3_uc002vwo.2_Missense_Mutation_p.D2444V|COL6A3_uc010znj.1_Missense_Mutation_p.D2043V|COL6A3_uc002vwj.2_Missense_Mutation_p.D31V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2650	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238253585	238253585	+	Silent	SNP	G	A	A	rs114248590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238253585G>A	uc002vwl.2	-	35	7458	c.7173C>T	c.(7171-7173)TAC>TAT	p.Y2391Y	COL6A3_uc002vwo.2_Silent_p.Y2185Y|COL6A3_uc010znj.1_Silent_p.Y1784Y|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.Y212Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2391	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285615	238285615	+	Missense_Mutation	SNP	T	C	C	rs116294003	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285615T>C	uc002vwl.2	-	7	3155	c.2870A>G	c.(2869-2871)GAT>GGT	p.D957G	COL6A3_uc002vwo.2_Missense_Mutation_p.D751G|COL6A3_uc010znj.1_Missense_Mutation_p.D350G|COL6A3_uc002vwq.2_Missense_Mutation_p.D751G|COL6A3_uc002vwr.2_Missense_Mutation_p.D550G|COL6A3_uc010znk.1_Missense_Mutation_p.D757G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	957	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238296676	238296676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238296676G>A	uc002vwl.2	-	4	1146	c.861C>T	c.(859-861)AGC>AGT	p.S287S	COL6A3_uc002vwo.2_Silent_p.S81S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.S81S|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.S287S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	287	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238303419	238303419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238303419C>T	uc002vwl.2	-	3	805	c.520G>A	c.(520-522)GCA>ACA	p.A174T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A174T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	174	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238725827	238725827	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238725827A>C	uc002vxi.3	+	3	400	c.268A>C	c.(268-270)ACA>CCA	p.T90P		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	89							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)														---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238999895	238999895	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238999895G>T	uc010fyv.2	+	8	985	c.921G>T	c.(919-921)AAG>AAT	p.K307N	SCLY_uc002vxm.3_Missense_Mutation_p.K274N|SCLY_uc002vxn.2_Missense_Mutation_p.K307N|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.K213N	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	307					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)														---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239040248	239040248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239040248G>A	uc002vxq.3	+	9	3003	c.2893G>A	c.(2893-2895)GCA>ACA	p.A965T	ESPNL_uc010fyw.2_Missense_Mutation_p.A661T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	965										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)														---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240061373	240061373	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240061373C>T	uc002vyk.3	-						HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc010fyy.2_Intron|HDAC4_uc010znz.1_Intron|HDAC4_uc010fzb.1_Intron	NM_006037	NP_006028			histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)														---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240921645	240921645	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240921645T>C	uc002vyn.2	-							NM_004544	NP_004535			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)													---	---	---	---
OR6B3	150681	broad.mit.edu	37	2	240985382	240985382	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240985382G>A	uc010zoe.1	-	1	108	c.108C>T	c.(106-108)CTC>CTT	p.L36L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)														---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241513717	241513717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241513717G>A	uc002vzi.2	+	5	1026	c.433G>A	c.(433-435)GAG>AAG	p.E145K	RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	145		Zinc; catalytic (By similarity).			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241689868	241689868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241689868G>A	uc002vzy.2	-	26	2798	c.2652C>T	c.(2650-2652)CGC>CGT	p.R884R	KIF1A_uc010fzk.2_Silent_p.R985R|KIF1A_uc002vzz.1_Silent_p.R985R	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	884					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241724522	241724522	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241724522G>T	uc002vzy.2	-						KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron	NM_004321	NP_004312			axonal transport of synaptic vesicles						anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241992711	241992711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241992711A>G	uc002wah.1	+	16	2225	c.2225A>G	c.(2224-2226)CAC>CGC	p.H742R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	742	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242009574	242009574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242009574G>A	uc002wah.1	+	24	3547	c.3547G>A	c.(3547-3549)GGG>AGG	p.G1183R	SNED1_uc002wai.1_Missense_Mutation_p.G418R|SNED1_uc002waj.1_Missense_Mutation_p.G270R|SNED1_uc002wak.2_Missense_Mutation_p.G270R|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1183	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021174	242021174	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021174C>T	uc002wah.1	+	28	3999	c.3999C>T	c.(3997-3999)TGC>TGT	p.C1333C	SNED1_uc002wai.1_Silent_p.C535C|SNED1_uc002waj.1_Silent_p.C387C	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1333	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242122098	242122098	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242122098G>A	uc002wat.1	+	10	958	c.943G>A	c.(943-945)GAC>AAC	p.D315N	PPP1R7_uc002wau.1_Missense_Mutation_p.D272N|PPP1R7_uc002wav.1_Missense_Mutation_p.D241N	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	315	LRR 11.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)														---	---	---	---
BOK	666	broad.mit.edu	37	2	242501857	242501857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242501857G>A	uc002wbq.2	+	3	561	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	105					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)														---	---	---	---
D2HGDH	728294	broad.mit.edu	37	2	242690780	242690780	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242690780G>A	uc002wce.1	+	8	1290	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.A239T|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.A72T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	373					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)														---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242757513	242757513	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242757513C>T	uc010fzr.2	+	4	680	c.594C>T	c.(592-594)TTC>TTT	p.F198F	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.F198F|NEU4_uc002wcn.1_Silent_p.F210F|NEU4_uc002wco.1_Silent_p.F198F|NEU4_uc002wcp.1_Silent_p.F210F	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262436	1262436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1262436T>A	uc003boz.2	+	3	388	c.121T>A	c.(121-123)TTA>ATA	p.L41I	CNTN6_uc010hbo.2_Missense_Mutation_p.L36I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.L41I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	41	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1369239	1369239	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1369239A>T	uc003boz.2	+	10	1449	c.1182A>T	c.(1180-1182)ATA>ATT	p.I394I	CNTN6_uc011asj.1_Silent_p.I322I|CNTN6_uc003bpa.2_Silent_p.I394I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	394	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427478	1427478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1427478T>C	uc003boz.2	+	20	2968	c.2701T>C	c.(2701-2703)TCT>CCT	p.S901P	CNTN6_uc011asj.1_Missense_Mutation_p.S829P|CNTN6_uc003bpa.2_Missense_Mutation_p.S901P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	901					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1444125	1444125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1444125G>A	uc003boz.2	+	22	3208	c.2941G>A	c.(2941-2943)GGA>AGA	p.G981R	CNTN6_uc011asj.1_Missense_Mutation_p.G909R|CNTN6_uc003bpa.2_Missense_Mutation_p.G981R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	981	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3081933	3081933	+	Silent	SNP	G	A	A	rs150012927		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3081933G>A	uc003bpc.2	+	19	2597	c.2376G>A	c.(2374-2376)ACG>ACA	p.T792T	CNTN4_uc003bpb.1_Silent_p.T463T|CNTN4_uc003bpe.2_Silent_p.T464T|CNTN4_uc003bpf.2_Silent_p.T463T|CNTN4_uc003bpg.2_Silent_p.T48T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	792	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3118291	3118291	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3118291A>G	uc011ask.1	-	11	1659	c.1015T>C	c.(1015-1017)TTG>CTG	p.L339L	IL5RA_uc010hbq.2_Silent_p.L244L|IL5RA_uc010hbr.2_Silent_p.L130L|IL5RA_uc010hbs.2_Silent_p.L339L|IL5RA_uc011asl.1_Silent_p.L339L|IL5RA_uc010hbp.2_Silent_p.L50L	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	339	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192623	3192623	+	Nonsense_Mutation	SNP	G	A	A	rs121918368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192623G>A	uc003bpq.2	-	11	1274	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	CRBN_uc003bpr.2_Nonsense_Mutation_p.R418*|CRBN_uc010hbw.2_Nonsense_Mutation_p.R375*	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	419	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192649	3192649	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192649G>A	uc003bpq.2	-	11	1248	c.1229C>T	c.(1228-1230)TCA>TTA	p.S410L	CRBN_uc003bpr.2_Missense_Mutation_p.S409L|CRBN_uc010hbw.2_Missense_Mutation_p.S366L	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	410	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887314	3887314	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887314G>A	uc003bpt.3	+	2	1750	c.989G>A	c.(988-990)CGC>CAC	p.R330H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	330	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887411T>A	uc003bpt.3	+	2	1847	c.1086T>A	c.(1084-1086)AAT>AAA	p.N362K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	362	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3888210	3888210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3888210A>G	uc003bpt.3	+	2	2646	c.1885A>G	c.(1885-1887)AGT>GGT	p.S629G	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	629	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4558230	4558230	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4558230G>A	uc003bqa.2	+	3	403	c.55G>A	c.(55-57)GCG>ACG	p.A19T	ITPR1_uc010hbz.2_Missense_Mutation_p.A19T|ITPR1_uc010hca.1_Missense_Mutation_p.A19T|ITPR1_uc011asu.1_Missense_Mutation_p.A19T|ITPR1_uc010hcb.1_Missense_Mutation_p.A19T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	19	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4687267	4687267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4687267G>A	uc003bqa.2	+	10	1058	c.710G>A	c.(709-711)GGT>GAT	p.G237D	ITPR1_uc010hbz.2_Missense_Mutation_p.G237D|ITPR1_uc010hca.1_Missense_Mutation_p.G237D|ITPR1_uc011asu.1_Missense_Mutation_p.G237D|ITPR1_uc010hcb.1_Missense_Mutation_p.G237D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	237	MIR 3.|Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4715020	4715020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4715020T>C	uc003bqa.2	+	21	2753	c.2405T>C	c.(2404-2406)GTG>GCG	p.V802A	ITPR1_uc010hca.1_Missense_Mutation_p.V787A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.V787A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	802	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4842131	4842131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4842131G>A	uc003bqa.2	+	51	7158	c.6810G>A	c.(6808-6810)TCG>TCA	p.S2270S	ITPR1_uc010hca.1_Silent_p.S2255S|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.S1240S|ITPR1_uc010hcc.1_Silent_p.S38S|ITPR1_uc011asv.1_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2318	Helical; (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903101	6903101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:6903101G>A	uc003bqm.2	+	1	300	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R9H|GRM7_uc003bql.2_Missense_Mutation_p.R9H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	9					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---
LMCD1	29995	broad.mit.edu	37	3	8590426	8590426	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8590426A>G	uc003bqq.2	+	4	674	c.560A>G	c.(559-561)AAG>AGG	p.K187R	LMCD1_uc011atd.1_Missense_Mutation_p.K114R|LMCD1_uc011ate.1_Missense_Mutation_p.K75R|LMCD1_uc011atf.1_Missense_Mutation_p.K114R	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	187	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)														---	---	---	---
C3orf32	51066	broad.mit.edu	37	3	8673737	8673737	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8673737G>A	uc003bqu.2	-	5	578	c.332C>T	c.(331-333)ACT>ATT	p.T111I	C3orf32_uc003bqz.2_Missense_Mutation_p.T111I|C3orf32_uc003bqt.2_Missense_Mutation_p.T60I|C3orf32_uc011atg.1_Missense_Mutation_p.T133I|C3orf32_uc003bqv.2_Missense_Mutation_p.T60I|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.T111I	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	111										skin(1)	1																		---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794806	8794806	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794806G>A	uc003brc.2	-	4	1649	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	343	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794893	8794893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794893C>T	uc003brc.2	-	4	1562	c.940G>A	c.(940-942)GTC>ATC	p.V314I		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	314	Helical; Name=7; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8809641	8809641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8809641A>G	uc003brc.2	-	3	855	c.233T>C	c.(232-234)ATG>ACG	p.M78T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	78	Helical; Name=2; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517581	9517581	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9517581A>G	uc003brt.2	+	23	4570	c.4135A>G	c.(4135-4137)AGG>GGG	p.R1379G	SETD5_uc003bru.2_Missense_Mutation_p.R1281G|SETD5_uc003brv.2_Missense_Mutation_p.R1268G|SETD5_uc010hck.2_Missense_Mutation_p.R861G|SETD5_uc003brx.2_Missense_Mutation_p.R1048G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1379	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---
CPNE9	151835	broad.mit.edu	37	3	9746317	9746317	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9746317C>T	uc003bsd.2	+							NM_153635	NP_705899			copine-like protein											ovary(2)	2	Medulloblastoma(99;0.227)																	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9959109	9959109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9959109G>A	uc003bua.2	+	1	346	c.110G>A	c.(109-111)AGT>AAT	p.S37N	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_Intron|IL17RC_uc011ato.1_Intron|IL17RC_uc010hcs.2_Intron|IL17RC_uc003btz.2_Intron|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Intron|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Intron|IL17RC_uc011atq.1_Intron|IL17RC_uc003buc.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	37	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991568	9991568	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9991568C>T	uc003bul.2	-	2	362	c.232G>A	c.(232-234)GCC>ACC	p.A78T	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.A78T	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	78	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10091175	10091175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10091175G>A	uc003buw.2	+	17	1609	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	FANCD2_uc003bux.1_Missense_Mutation_p.A511T|FANCD2_uc003buy.1_Missense_Mutation_p.A511T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	511					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10130195	10130195	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10130195A>G	uc003buw.2	+	35	3607	c.3529A>G	c.(3529-3531)ATC>GTC	p.I1177V	FANCD2_uc003bux.1_Missense_Mutation_p.I1177V|FANCD2_uc003buy.1_Missense_Mutation_p.I1177V|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1177					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10264468	10264468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10264468C>T	uc003bve.1	+	9	1238	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8																		---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10491114	10491114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10491114C>T	uc003bvt.2	-	2	553	c.114G>A	c.(112-114)CGG>CGA	p.R38R	ATP2B2_uc003bvv.2_Silent_p.R38R|ATP2B2_uc003bvw.2_Silent_p.R38R|ATP2B2_uc010hdp.2_Silent_p.R38R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	38	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11302082	11302082	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11302082C>T	uc010hdr.2	+	2	1701	c.1359C>T	c.(1357-1359)ACC>ACT	p.T453T	HRH1_uc010hds.2_Silent_p.T453T|HRH1_uc010hdt.2_Silent_p.T453T|HRH1_uc003bwb.3_Silent_p.T453T	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	453	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11402269	11402269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11402269T>C	uc003bwc.2	+						ATG7_uc003bwd.2_Intron|ATG7_uc011aum.1_Intron	NM_006395	NP_006386			APG7 autophagy 7-like isoform a						autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---
VGLL4	9686	broad.mit.edu	37	3	11643487	11643487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11643487G>T	uc003bwf.2	-	3	440	c.74C>A	c.(73-75)GCT>GAT	p.A25D	VGLL4_uc010hdx.1_Missense_Mutation_p.A31D|VGLL4_uc003bwg.2_Missense_Mutation_p.A30D|VGLL4_uc011aun.1_5'UTR	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)														---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12632428	12632428	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12632428T>G	uc003bxf.3	-	12	1654	c.1239A>C	c.(1237-1239)ACA>ACC	p.T413T	RAF1_uc011aut.1_Silent_p.T198T|RAF1_uc011auu.1_Silent_p.T331T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	413	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12641249	12641249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12641249A>G	uc003bxf.3	-	10	1464	c.1049T>C	c.(1048-1050)ATG>ACG	p.M350T	RAF1_uc011aut.1_Missense_Mutation_p.M135T|RAF1_uc011auu.1_Missense_Mutation_p.M268T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	350	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12783956	12783956	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12783956C>A	uc003bxg.1	-	5	479	c.352G>T	c.(352-354)GGA>TGA	p.G118*	TMEM40_uc003bxh.1_Nonsense_Mutation_p.G88*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.G42*|TMEM40_uc011auv.1_Nonsense_Mutation_p.G134*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	118						integral to membrane					0																		---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12858333	12858333	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12858333T>C	uc003bxk.2	+	10	1951	c.1902T>C	c.(1900-1902)CTT>CTC	p.L634L	CAND2_uc003bxj.2_Silent_p.L541L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	634	HEAT 13.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12944311	12944311	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12944311G>A	uc003bxt.2	-	13	2818	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Missense_Mutation_p.R923C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	937					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12977116	12977116	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12977116T>C	uc003bxt.2	-	3	1451	c.1442A>G	c.(1441-1443)GAT>GGT	p.D481G	IQSEC1_uc003bxu.3_Missense_Mutation_p.D359G|IQSEC1_uc011auw.1_Missense_Mutation_p.D467G	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	481					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13363106	13363106	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13363106C>T	uc003bxv.1	-	36	5228	c.5145G>A	c.(5143-5145)CCG>CCA	p.P1715P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1715	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13370369	13370369	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13370369C>T	uc003bxv.1	-	31	4271	c.4188G>A	c.(4186-4188)GTG>GTA	p.V1396V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1396	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14545130	14545130	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14545130C>A	uc011avi.1	-	22	2917	c.2917G>T	c.(2917-2919)GAA>TAA	p.E973*	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Nonsense_Mutation_p.E504*	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	875					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
C3orf19	51244	broad.mit.edu	37	3	14708358	14708358	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14708358A>G	uc003byw.2	+	7	719	c.628A>G	c.(628-630)AGA>GGA	p.R210G	C3orf19_uc010hei.1_Missense_Mutation_p.R210G|C3orf19_uc010hej.2_Missense_Mutation_p.R115G	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	210											0																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14949150	14949150	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14949150A>G	uc003bzc.2	+	10	3378	c.3268A>G	c.(3268-3270)AAC>GAC	p.N1090D	FGD5_uc011avk.1_Missense_Mutation_p.N1090D|FGD5_uc003bzd.2_Missense_Mutation_p.N168D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1090					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960286	14960286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960286T>C	uc003bzc.2	+	13	3625	c.3515T>C	c.(3514-3516)GTG>GCG	p.V1172A	FGD5_uc011avk.1_Missense_Mutation_p.V1172A|FGD5_uc003bzd.2_Missense_Mutation_p.V250A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1172	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960290	14960290	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960290C>A	uc003bzc.2	+	13	3629	c.3519C>A	c.(3517-3519)CCC>CCA	p.P1173P	FGD5_uc011avk.1_Silent_p.P1173P|FGD5_uc003bzd.2_Silent_p.P251P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1173	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14967691	14967691	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14967691T>C	uc003bzc.2	+	18	4293	c.4183T>C	c.(4183-4185)TAC>CAC	p.Y1395H	FGD5_uc011avk.1_Intron|FGD5_uc003bzd.2_Missense_Mutation_p.Y473H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1395	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094115	15094115	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15094115C>T	uc003bzl.2	-	4	470	c.355G>A	c.(355-357)GAG>AAG	p.E119K	MRPS25_uc011avl.1_Silent_p.R89R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116040	15116040	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116040T>A	uc003bzm.1	-	14	2218	c.1604A>T	c.(1603-1605)GAG>GTG	p.E535V	ZFYVE20_uc010hek.1_Missense_Mutation_p.E535V	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	535	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116197	15116197	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116197G>T	uc003bzm.1	-	14	2061	c.1447C>A	c.(1447-1449)CGC>AGC	p.R483S	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15127366	15127366	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15127366A>G	uc003bzm.1	-	6	1004	c.390_splice	c.e6+1	p.K130_splice	ZFYVE20_uc010hek.1_Splice_Site_p.K130_splice|ZFYVE20_uc011avn.1_Splice_Site_p.K130_splice	NM_022340	NP_071735			FYVE-finger-containing Rab5 effector protein						blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15726808	15726808	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15726808C>A	uc003caj.1	-	21	2367	c.2224G>T	c.(2224-2226)GCA>TCA	p.A742S	ANKRD28_uc003cai.1_Missense_Mutation_p.A588S|ANKRD28_uc011avz.1_Missense_Mutation_p.A588S|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.A772S|ANKRD28_uc003cam.2_Missense_Mutation_p.A775S	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	742	ANK 21.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15731544	15731544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15731544T>C	uc003caj.1	-	18	1998	c.1855A>G	c.(1855-1857)ACA>GCA	p.T619A	ANKRD28_uc003cai.1_Missense_Mutation_p.T465A|ANKRD28_uc011avz.1_Missense_Mutation_p.T465A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T649A|ANKRD28_uc003cam.2_Missense_Mutation_p.T652A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	619	ANK 18.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15753728	15753728	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15753728G>A	uc003caj.1	-	11	1245	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	ANKRD28_uc003cai.1_Missense_Mutation_p.R214C|ANKRD28_uc011avz.1_Missense_Mutation_p.R214C|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.R398C|ANKRD28_uc003cam.2_Missense_Mutation_p.R401C	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	368						nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16260950	16260950	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16260950G>T	uc003car.3	+	7	1908	c.1433G>T	c.(1432-1434)AGG>ATG	p.R478M	GALNTL2_uc003caq.3_Missense_Mutation_p.R211M|GALNTL2_uc003cas.3_Missense_Mutation_p.R8M	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	478	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16261424	16261424	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16261424A>C	uc003car.3	+	8	2007	c.1532A>C	c.(1531-1533)AAC>ACC	p.N511T	GALNTL2_uc003caq.3_Missense_Mutation_p.N244T|GALNTL2_uc003cas.3_Missense_Mutation_p.N41T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17053060	17053060	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17053060G>T	uc011awc.1	+	5	2303	c.2198G>T	c.(2197-2199)AGC>ATC	p.S733I	PLCL2_uc011awd.1_Missense_Mutation_p.S615I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	741	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17202688	17202688	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17202688A>G	uc003cbf.2	-	22	3820	c.2155T>C	c.(2155-2157)TCC>CCC	p.S719P	TBC1D5_uc010heu.2_Missense_Mutation_p.S306P|TBC1D5_uc010hev.2_Missense_Mutation_p.S741P|TBC1D5_uc003cbe.2_Missense_Mutation_p.S719P	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	719						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17549984	17549984	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17549984A>G	uc003cbf.2	-	3	1744	c.79T>C	c.(79-81)TAC>CAC	p.Y27H	TBC1D5_uc010hev.2_Missense_Mutation_p.Y27H|TBC1D5_uc003cbe.2_Missense_Mutation_p.Y27H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	27						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18456661	18456661	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18456661T>G	uc003cbh.2	-	5	2316	c.581A>C	c.(580-582)AAG>ACG	p.K194T	SATB1_uc003cbi.2_Missense_Mutation_p.K194T|SATB1_uc003cbj.2_Missense_Mutation_p.K194T	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	194	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19389261	19389261	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19389261T>C	uc003cbk.1	+	5	810	c.615T>C	c.(613-615)TCT>TCC	p.S205S	KCNH8_uc011awe.1_Silent_p.S205S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554610	19554610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19554610G>T	uc003cbk.1	+	13	2423	c.2228G>T	c.(2227-2229)GGA>GTA	p.G743V	KCNH8_uc010hex.1_Missense_Mutation_p.G204V	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	743	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19559491	19559491	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19559491T>A	uc003cbk.1	+	15	2739	c.2544T>A	c.(2542-2544)GAT>GAA	p.D848E	KCNH8_uc010hex.1_Missense_Mutation_p.D309E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19575180	19575180	+	Silent	SNP	A	G	G	rs145364018		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19575180A>G	uc003cbk.1	+	16	3108	c.2913A>G	c.(2911-2913)CAA>CAG	p.Q971Q	KCNH8_uc010hex.1_Silent_p.Q432Q	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	971	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19959879	19959879	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19959879G>T	uc003cbl.3	-	4	1218	c.1022C>A	c.(1021-1023)CCT>CAT	p.P341H	EFHB_uc003cbm.2_Missense_Mutation_p.P211H	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	341					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---
RAB5A	5868	broad.mit.edu	37	3	20017562	20017562	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20017562T>A	uc003cbn.2	+	4	874	c.339T>A	c.(337-339)AAT>AAA	p.N113K	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.N99K	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	113					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0																		---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20164248	20164248	+	Silent	SNP	C	T	T	rs149881135		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20164248C>T	uc003cbq.2	+	9	1811	c.1365C>T	c.(1363-1365)AAC>AAT	p.N455N		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	455					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
NKIRAS1	28512	broad.mit.edu	37	3	23952357	23952357	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23952357T>A	uc003ccj.2	-	3	441	c.39A>T	c.(37-39)TTA>TTT	p.L13F	NKIRAS1_uc003cck.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccl.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccm.2_Missense_Mutation_p.L13F	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	13	GTP (By similarity).				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0																		---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24003739	24003739	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24003739T>A	uc003ccs.2	+	5	1108	c.789T>A	c.(787-789)GAT>GAA	p.D263E	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.D188E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3																		---	---	---	---
THRB	7068	broad.mit.edu	37	3	24193924	24193924	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24193924G>C	uc003ccx.3	-	6	690	c.341C>G	c.(340-342)GCC>GGC	p.A114G	THRB_uc010hfe.2_Missense_Mutation_p.A114G|THRB_uc003ccy.3_Missense_Mutation_p.A114G|THRB_uc003ccz.3_Missense_Mutation_p.A109G|THRB_uc003cdc.2_Missense_Mutation_p.A109G|THRB_uc003cdd.2_Missense_Mutation_p.A109G|THRB_uc003cde.1_Missense_Mutation_p.A109G|THRB_uc003cda.1_Missense_Mutation_p.A129G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	114	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25215993	25215993	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25215993A>T	uc011awl.1	+	1	171	c.105A>T	c.(103-105)GGA>GGT	p.G35G		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	35	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25502818	25502818	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25502818T>A	uc011awl.1	+	2	379	c.313T>A	c.(313-315)TGT>AGT	p.C105S	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.C98S	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	105	NR C4-type.|Nuclear receptor.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25641012	25641012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25641012G>A	uc003cdj.2	-	35	4609	c.4609C>T	c.(4609-4611)CGA>TGA	p.R1537*	TOP2B_uc011awm.1_Nonsense_Mutation_p.R394*|TOP2B_uc010hff.1_Nonsense_Mutation_p.R403*	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1542					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685185	25685185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685185C>T	uc011awn.1	-	3	374	c.331G>A	c.(331-333)GTT>ATT	p.V111I	TOP2B_uc003cdj.2_Missense_Mutation_p.V106I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	111					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685220	25685220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685220A>G	uc011awn.1	-	3	339	c.296T>C	c.(295-297)GTG>GCG	p.V99A	TOP2B_uc003cdj.2_Missense_Mutation_p.V94A	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	99					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25778951	25778951	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25778951T>G	uc003cdl.2	-						NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Intron|NGLY1_uc011awo.1_Intron|NGLY1_uc003cdk.2_Intron	NM_018297	NP_060767			N-glycanase 1 isoform 1						glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27204208	27204208	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27204208T>A	uc010hfk.2	-	9	1018	c.789A>T	c.(787-789)GGA>GGT	p.G263G	NEK10_uc003cds.1_Silent_p.G348G|NEK10_uc010hfj.2_Silent_p.G263G			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	951							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27243079	27243079	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27243079A>G	uc010hfk.2	-						NEK10_uc003cds.1_Intron|NEK10_uc010hfj.2_Intron					RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28454686	28454686	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28454686T>C	uc003ceh.2	+	3	295	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZCWPW2_uc003cei.2_Silent_p.L43L	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	43	CW-type.						zinc ion binding			ovary(2)	2																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28566019	28566019	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28566019T>C	uc003ceh.2	+	10	1079	c.911T>C	c.(910-912)TTA>TCA	p.L304S	ZCWPW2_uc003cei.2_Missense_Mutation_p.L304S|ZCWPW2_uc010hfo.2_Missense_Mutation_p.L109S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	304							zinc ion binding			ovary(2)	2																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30691806	30691806	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30691806A>G	uc003ceo.2	+	3	690	c.308A>G	c.(307-309)GAC>GGC	p.D103G	TGFBR2_uc003cen.2_Missense_Mutation_p.D128G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	103	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713436	30713436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30713436G>A	uc003ceo.2	+	4	1143	c.761G>A	c.(760-762)CGC>CAC	p.R254H	TGFBR2_uc003cen.2_Missense_Mutation_p.R279H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	254	Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
STT3B	201595	broad.mit.edu	37	3	31621492	31621492	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31621492T>C	uc011axe.1	+	3	615	c.615T>C	c.(613-615)ATT>ATC	p.I205I	STT3B_uc010hft.1_Silent_p.I205I|STT3B_uc003cer.1_Silent_p.I205I	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	205	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0																		---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710251	31710251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31710251T>C	uc003cev.2	-	11	2360	c.1979A>G	c.(1978-1980)AAT>AGT	p.N660S	OSBPL10_uc003ceu.1_Missense_Mutation_p.N417S|OSBPL10_uc011axf.1_Missense_Mutation_p.N596S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	660					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483359	32483359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483359G>A	uc003cey.1	+	2	423	c.187G>A	c.(187-189)GTG>ATG	p.V63M	CMTM7_uc003cez.1_Missense_Mutation_p.V63M	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	63	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483389	32483389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483389G>A	uc003cey.1	+	2	453	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CMTM7_uc003cez.1_Missense_Mutation_p.A73T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	73	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32493939	32493939	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32493939A>C	uc003cey.1	+	4	724	c.488A>C	c.(487-489)AAG>ACG	p.K163T	CMTM7_uc003cez.1_Missense_Mutation_p.K130T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	163	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CNOT10	25904	broad.mit.edu	37	3	32769230	32769230	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32769230T>C	uc003cfc.1	+	10	1338	c.1083T>C	c.(1081-1083)TGT>TGC	p.C361C	CNOT10_uc011axi.1_Silent_p.C133C|CNOT10_uc003cfd.1_Silent_p.C360C|CNOT10_uc003cfe.1_Silent_p.C361C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Silent_p.C421C|CNOT10_uc010hfw.1_Silent_p.C56C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	361					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859684	32859684	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859686	32859686	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859686G>A	uc003cff.2	+	1	177	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
FBXL2	25827	broad.mit.edu	37	3	33425581	33425581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33425581G>A	uc003cfp.2	+	14	1123	c.1052G>A	c.(1051-1053)TGC>TAC	p.C351Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C246Y|FBXL2_uc011axp.1_Missense_Mutation_p.C267Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	351	LRR 12.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1																		---	---	---	---
UBP1	7342	broad.mit.edu	37	3	33450175	33450175	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33450175C>T	uc003cfq.3	-						UBP1_uc003cfr.3_Intron|UBP1_uc010hga.2_Intron	NM_014517	NP_055332			upstream binding protein 1 (LBP-1a) isoform a						negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33617771	33617771	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33617771A>G	uc003cfu.2	-						CLASP2_uc003cfs.2_5'Flank|CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc011axt.1_Intron	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33725942	33725942	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33725942C>T	uc003cfu.2	-	6	907	c.553G>A	c.(553-555)GAT>AAT	p.D185N	CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	185										ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866819	33866819	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33905536	33905536	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33905536C>A	uc003cfx.2	+	16	2314	c.2159C>A	c.(2158-2160)CCT>CAT	p.P720H	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P725H|PDCD6IP_uc011axw.1_Missense_Mutation_p.P501H	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	720	Pro-rich.|Interaction with EIAV p9.|Interaction with TSG101.|Self-association.			P->L: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6.	apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35724392	35724392	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35724392T>A	uc003cgb.2	+						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cfz.2_Intron|ARPP21_uc003cgc.2_Intron|ARPP21_uc003cgd.2_Intron|ARPP21_uc011axx.1_Intron|ARPP21_uc003cge.2_Intron	NM_016300	NP_057384			cyclic AMP-regulated phosphoprotein, 21 kD							cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35780864	35780864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35780864G>A	uc003cgb.2	+	17	1964	c.1700G>A	c.(1699-1701)GGG>GAG	p.G567E	ARPP21_uc003cga.2_Missense_Mutation_p.G548E|ARPP21_uc011axy.1_Missense_Mutation_p.G568E|ARPP21_uc003cgf.2_Missense_Mutation_p.G403E|ARPP21_uc003cgg.2_Missense_Mutation_p.G90E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	567	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36422210	36422210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36422210G>A	uc003cgh.1	+	1	114	c.75G>A	c.(73-75)CCG>CCA	p.P25P	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.P25P	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36547271	36547271	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36547271A>G	uc003cgh.1	+	8	904	c.865A>G	c.(865-867)ACC>GCC	p.T289A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.T228A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	289	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36779103	36779103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36779103C>T	uc003cgi.2	-	2	1539	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	350						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872603	36872603	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36872603A>G	uc003cgj.2	-	12	6991	c.6689T>C	c.(6688-6690)CTA>CCA	p.L2230P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2780					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36873305C>T	uc003cgj.2	-	12	6289	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36893684	36893684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36893684G>A	uc003cgj.2	-	4	3222	c.2920C>T	c.(2920-2922)CGA>TGA	p.R974*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1524					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034495	37034495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37034495C>T	uc003cgk.2	-	1	301	c.74G>A	c.(73-75)CGT>CAT	p.R25H	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	25						endoplasmic reticulum					0																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37095362	37095362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37095362C>T	uc003cgp.2	-	29	2569	c.2146G>A	c.(2146-2148)GCA>ACA	p.A716T	MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.A498T|LRRFIP2_uc003cgr.2_Missense_Mutation_p.A419T|LRRFIP2_uc003cgs.3_Missense_Mutation_p.A419T|LRRFIP2_uc003cgt.3_Missense_Mutation_p.A395T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	716					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37107356	37107356	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37107356A>G	uc003cgp.2	-	24	2067	c.1644T>C	c.(1642-1644)ACT>ACC	p.T548T	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Silent_p.T330T|LRRFIP2_uc003cgr.2_Silent_p.T251T|LRRFIP2_uc003cgs.3_Silent_p.T251T|LRRFIP2_uc003cgt.3_Silent_p.T227T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	548					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37365710	37365710	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37365710A>C	uc003cgv.2	+	14	2637	c.2333A>C	c.(2332-2334)CAT>CCT	p.H778P	GOLGA4_uc010hgr.1_Missense_Mutation_p.H339P|GOLGA4_uc003cgw.2_Missense_Mutation_p.H800P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.H659P	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	778	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37826552	37826552	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37826552A>G	uc003chd.2	+	26	2925	c.2872A>G	c.(2872-2874)AAC>GAC	p.N958D		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	958	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37845374	37845374	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37845374G>A	uc003chd.2	+	27	3003	c.2950G>A	c.(2950-2952)GCC>ACC	p.A984T		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	984	Helical; (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38042991	38042991	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38042991G>T	uc003chj.2	+	12	1513	c.1227G>T	c.(1225-1227)AAG>AAT	p.K409N	VILL_uc003chl.2_Missense_Mutation_p.K409N|VILL_uc010hgu.2_Missense_Mutation_p.K239N	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	409	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38048554	38048554	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38048554C>T	uc003chj.2	+	20					VILL_uc003chl.2_3'UTR	NM_015873	NP_056957			villin-like protein						actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38080868	38080868	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38080868A>G	uc003cho.1	+	1	173	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	DLEC1_uc003chp.1_Missense_Mutation_p.Y51C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y51C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	51					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38125678	38125678	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38125678G>A	uc003cho.1	+	7	1224	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	DLEC1_uc003chp.1_Silent_p.T401T|DLEC1_uc010hgv.1_Silent_p.T401T|DLEC1_uc010hgw.1_Silent_p.T100T|DLEC1_uc003chq.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	401					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38153716	38153716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38153716T>C	uc003cho.1	+	25	3551	c.3530T>C	c.(3529-3531)ATG>ACG	p.M1177T	DLEC1_uc003chp.1_Missense_Mutation_p.M1177T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1180T|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1177					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158779	38158779	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38158779C>T	uc003cho.1	+	31	4407	c.4386C>T	c.(4384-4386)TAC>TAT	p.Y1462Y	DLEC1_uc003chp.1_Silent_p.Y1462Y|DLEC1_uc010hgv.1_Silent_p.Y1465Y|DLEC1_uc003chr.1_Silent_p.Y533Y|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_Translation_Start_Site	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1462					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38173487	38173487	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38173487C>T	uc003cht.2	-	4	540	c.333G>A	c.(331-333)CCG>CCA	p.P111P	ACAA1_uc003chu.2_Silent_p.P111P|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Silent_p.P111P|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)												OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38292940	38292940	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38292940C>T	uc003chy.2	+	16	1764	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	OXSR1_uc010hhb.2_Silent_p.V408V	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	474					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38415972	38415972	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38415972A>T	uc003cic.2	+	11	976	c.867A>T	c.(865-867)AGA>AGT	p.R289S	XYLB_uc011ayp.1_Missense_Mutation_p.R152S|XYLB_uc003cid.1_Missense_Mutation_p.R211S	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	289					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)														---	---	---	---
ACVR2B	93	broad.mit.edu	37	3	38523762	38523762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38523762G>A	uc003cif.2	+	9	1172	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	ACVR2B_uc003cig.2_Missense_Mutation_p.R174H	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	383	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)														---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38591817	38591817	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38591817C>T	uc003cio.2	-	28	6240	c.6046G>A	c.(6046-6048)GTG>ATG	p.V2016M	SCN5A_uc003cin.2_Missense_Mutation_p.V2015M|SCN5A_uc003cil.3_Missense_Mutation_p.V2016M|SCN5A_uc010hhi.2_Missense_Mutation_p.V1998M|SCN5A_uc010hhk.2_Missense_Mutation_p.V1983M|SCN5A_uc011ayr.1_Missense_Mutation_p.V1962M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2016					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38596019	38596019	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38596019A>T	uc003cio.2	-	27	4758	c.4564T>A	c.(4564-4566)TTC>ATC	p.F1522I	SCN5A_uc003cin.2_Missense_Mutation_p.F1521I|SCN5A_uc003cil.3_Missense_Mutation_p.F1522I|SCN5A_uc010hhi.2_Missense_Mutation_p.F1504I|SCN5A_uc010hhk.2_Missense_Mutation_p.F1521I|SCN5A_uc011ayr.1_Missense_Mutation_p.F1468I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38649682	38649682	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38649682T>C	uc003cio.2	-	8	1152	c.958A>G	c.(958-960)ACC>GCC	p.T320A	SCN5A_uc003cin.2_Missense_Mutation_p.T320A|SCN5A_uc003cil.3_Missense_Mutation_p.T320A|SCN5A_uc010hhi.2_Missense_Mutation_p.T320A|SCN5A_uc010hhk.2_Missense_Mutation_p.T320A|SCN5A_uc011ayr.1_Missense_Mutation_p.T320A|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	320					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38753796	38753796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38753796A>G	uc003ciq.2	-	22	3945	c.3945T>C	c.(3943-3945)GAT>GAC	p.D1315D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1315	III.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798267	38798267	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798267G>C	uc003ciq.2	-	9	1188	c.1188C>G	c.(1186-1188)GTC>GTG	p.V396V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	396	Helical; Name=S6 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38908837	38908837	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38908837T>A	uc011ays.1	-	23	4125	c.3926A>T	c.(3925-3927)GAC>GTC	p.D1309V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1309	III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38951553	38951553	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38951553T>A	uc011ays.1	-							NM_014139	NP_054858			sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
GORASP1	64689	broad.mit.edu	37	3	39144266	39144266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39144266A>G	uc003ciw.1	-	3	349	c.251T>C	c.(250-252)GTG>GCG	p.V84A	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	84					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228564	39228564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39228564G>A	uc003cjk.1	-	2	2594	c.2373C>T	c.(2371-2373)CTC>CTT	p.L791L	XIRP1_uc003cji.2_Silent_p.L791L|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	791							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230227	39230227	+	Missense_Mutation	SNP	G	A	A	rs35083720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230227G>A	uc003cjk.1	-	2	931	c.710C>T	c.(709-711)ACG>ATG	p.T237M	XIRP1_uc003cji.2_Missense_Mutation_p.T237M|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230238	39230238	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230238C>A	uc003cjk.1	-	2	920	c.699G>T	c.(697-699)AAG>AAT	p.K233N	XIRP1_uc003cji.2_Missense_Mutation_p.K233N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	233	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307504	39307504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39307504A>G	uc003cjl.2	-	2	589	c.497T>C	c.(496-498)ATG>ACG	p.M166T		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	166	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)														---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39433000	39433000	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39433000C>T	uc003cjo.2	+	4	746	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	115					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40456320	40456320	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40456320A>G	uc003ckd.3	+	6	678	c.586A>G	c.(586-588)AAT>GAT	p.N196D	ENTPD3_uc010hhy.2_Missense_Mutation_p.N196D|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	196	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)														---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41279570	41279570	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41279570A>T	uc010hia.1	+						CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895			beta-catenin						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41607557	41607557	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41607557A>G	uc003ckv.3	-	32	3386	c.3185T>C	c.(3184-3186)GTT>GCT	p.V1062A		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1062	HEAT 3.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242337	42242337	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42242337A>G	uc003cky.2	+	12	1434	c.1218A>G	c.(1216-1218)GTA>GTG	p.V406V	TRAK1_uc011azh.1_Silent_p.V406V|TRAK1_uc011azi.1_Silent_p.V406V|TRAK1_uc003ckz.3_Silent_p.V332V|TRAK1_uc011azj.1_Silent_p.V332V|TRAK1_uc003cla.2_Silent_p.V348V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	406	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42576474	42576474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42576474G>A	uc003clf.2	+	11	1142	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	VIPR1_uc011azl.1_Missense_Mutation_p.A292T|VIPR1_uc011azm.1_Missense_Mutation_p.A130T|VIPR1_uc011azn.1_Missense_Mutation_p.A313T|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	340	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42577688	42577688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42577688G>A	uc003clf.2	+	13	1413	c.1289G>A	c.(1288-1290)TGC>TAC	p.C430Y	VIPR1_uc011azl.1_Missense_Mutation_p.C382Y|VIPR1_uc011azm.1_Missense_Mutation_p.C220Y|VIPR1_uc011azn.1_Missense_Mutation_p.C403Y|VIPR1_uc003clg.2_Missense_Mutation_p.C75Y	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	430	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42672811	42672811	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42672811A>G	uc003clo.2	+						NKTR_uc003clm.1_Intron|NKTR_uc003clp.2_Intron|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Intron|NKTR_uc003clr.1_Intron|NKTR_uc003cls.2_Intron	NM_005385	NP_005376			natural killer-tumor recognition sequence						protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679032	42679032	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42679032C>T	uc003clo.2	+	13	1983	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	NKTR_uc003clm.1_Silent_p.D359D|NKTR_uc003clp.2_Silent_p.D359D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.D502D|NKTR_uc003clr.1_Silent_p.D359D|NKTR_uc003cls.2_Silent_p.D312D	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	612					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42916705	42916705	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42916705A>T	uc003cmh.2	-	1	929	c.604T>A	c.(604-606)TTA>ATA	p.L202I	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.L202I	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	202					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42917312	42917312	+	Translation_Start_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42917312T>C	uc003cmh.2	-	1	322	c.-3A>G	c.(-5--1)ATAGC>ATGGC		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Translation_Start_Site	NM_004391	NP_004382			cytochrome P450, family 8, subfamily B,						bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
ZNF662	389114	broad.mit.edu	37	3	42956105	42956105	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42956105T>C	uc003cmi.2	+	5	892	c.540T>C	c.(538-540)GGT>GGC	p.G180G	ZNF662_uc003cmk.2_Silent_p.G206G|ZNF662_uc003cmj.2_Silent_p.G72G	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43344905	43344905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43344905G>A	uc003cms.3	+	3	542	c.210G>A	c.(208-210)GTG>GTA	p.V70V	SNRK_uc003cmt.3_Silent_p.V70V|SNRK_uc010hik.2_Silent_p.V70V|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Silent_p.V70V	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	70	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43389110	43389110	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43389110G>A	uc003cms.3	+	7	1691	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E	SNRK_uc003cmt.3_Silent_p.E453E|SNRK_uc010hik.2_Silent_p.E453E|SNRK_uc011azr.1_Silent_p.E247E	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	453					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
ZNF445	353274	broad.mit.edu	37	3	44492035	44492035	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44492035T>A	uc003cnf.2	-	6	1072	c.724A>T	c.(724-726)ACC>TCC	p.T242S	ZNF445_uc011azv.1_Missense_Mutation_p.T230S|ZNF445_uc011azw.1_Missense_Mutation_p.T242S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	242	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)														---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685375	44685375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44685375T>G	uc003cnm.2	+	6	2959	c.2753T>G	c.(2752-2754)GTT>GGT	p.V918G	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	918	C2H2-type 20.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44692631	44692631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44692631A>G	uc003cnq.2	+	2	293	c.72A>G	c.(70-72)GAA>GAG	p.E24E	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	T	T	rs148645131		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44701410C>T	uc003cnq.2	+	4	1776	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	ZNF35_uc003cnr.2_Nonsense_Mutation_p.R359*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	519	C2H2-type 11.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45527224	45527224	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45527224G>T	uc003cop.1	+	11	1244	c.1059G>T	c.(1057-1059)CAG>CAT	p.Q353H	LARS2_uc010hit.1_Missense_Mutation_p.Q310H	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	353					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)													---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	45972594	45972594	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45972594T>C	uc003cpb.3	-	16	4426	c.4220A>G	c.(4219-4221)GAG>GGG	p.E1407G	FYCO1_uc011bal.1_Missense_Mutation_p.E1427G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1407	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46000895	46000895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46000895G>A	uc003cpb.3	-	12	3783	c.3577C>T	c.(3577-3579)CAC>TAC	p.H1193Y	FYCO1_uc011bal.1_Missense_Mutation_p.H1193Y	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1193	FYVE-type.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46005857	46005857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46005857C>A	uc003cpb.3	-	10	3446	c.3240G>T	c.(3238-3240)GAG>GAT	p.E1080D	FYCO1_uc011bal.1_Missense_Mutation_p.E1080D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1080	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46008779	46008779	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46008779C>G	uc003cpb.3	-	8	2253	c.2047G>C	c.(2047-2049)GCT>CCT	p.A683P	FYCO1_uc011bal.1_Missense_Mutation_p.A683P	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	683	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46307353	46307353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46307353A>G	uc003cpg.1	+	4	1247	c.704A>G	c.(703-705)TAC>TGC	p.Y235C	CCR3_uc003cpi.1_Missense_Mutation_p.Y235C|CCR3_uc003cpj.1_Missense_Mutation_p.Y235C|CCR3_uc003cpk.1_Missense_Mutation_p.Y256C|CCR3_uc010hjb.1_Missense_Mutation_p.Y253C|CCR3_uc003cpl.1_Missense_Mutation_p.Y268C	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	235	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)														---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399365	46399365	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46399365T>A	uc003cpn.3	+	2	832	c.347T>A	c.(346-348)TTC>TAC	p.F116Y	CCR2_uc003cpm.3_Missense_Mutation_p.F116Y	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	116	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)														---	---	---	---
LTF	4057	broad.mit.edu	37	3	46484968	46484968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46484968C>T	uc003cpq.2	-	13	1657	c.1619G>A	c.(1618-1620)AGC>AAC	p.S540N	LTF_uc003fzr.2_Missense_Mutation_p.S496N|LTF_uc010hjh.2_Missense_Mutation_p.S538N|LTF_uc003cpr.2_Missense_Mutation_p.S527N	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	540	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)													---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46560562	46560562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46560562G>A	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46586530	46586530	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46586530A>G	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46729723	46729723	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46729723C>T	uc003cqa.1	-	3	357	c.167G>A	c.(166-168)AGC>AAC	p.S56N	ALS2CL_uc003cqb.1_Missense_Mutation_p.S56N|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	56					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47037074	47037074	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47037074G>A	uc003cqp.2	+	13	2028	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NBEAL2_uc003cqq.1_Missense_Mutation_p.A583T|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	617							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47042782	47042782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47042782A>G	uc003cqp.2	+	29	4677	c.4498A>G	c.(4498-4500)ATG>GTG	p.M1500V	NBEAL2_uc010hjm.1_Missense_Mutation_p.M877V|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1500							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47043945	47043945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47043945G>A	uc003cqp.2	+	32	5415	c.5236G>A	c.(5236-5238)GAC>AAC	p.D1746N	NBEAL2_uc010hjm.1_Missense_Mutation_p.D1123N|NBEAL2_uc010hjn.1_Missense_Mutation_p.D142N|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1746							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47288960	47288960	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47288960C>T	uc010hjp.2	-	13	1740	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	KIF9_uc003cqx.2_Missense_Mutation_p.R379H|KIF9_uc003cqy.2_Missense_Mutation_p.R379H|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	379	Potential.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47315142	47315142	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47315142A>G	uc010hjp.2	-	5	870	c.266T>C	c.(265-267)ATC>ACC	p.I89T	KIF9_uc003cqx.2_Missense_Mutation_p.I89T|KIF9_uc003cqy.2_Missense_Mutation_p.I89T|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	89	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47449865	47449865	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47449865C>T	uc003crf.1	+	15	1311	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	PTPN23_uc011baw.1_Silent_p.P370P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P275P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	405	TPR 2.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.P405P(1)		breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454597	47454597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454597G>A	uc003crf.1	+	25	4929	c.4833G>A	c.(4831-4833)GGG>GGA	p.G1611G	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.G1481G|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1611					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454675	47454675	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454675A>G	uc003crf.1	+	25	5007	c.4911A>G	c.(4909-4911)TGA>TGG	p.*1637W	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Nonstop_Mutation_p.*1507W|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1637					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47456380	47456380	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47456380G>A	uc003crh.1	-	20	3498	c.3243C>T	c.(3241-3243)CCC>CCT	p.P1081P	SCAP_uc011baz.1_Silent_p.P825P|SCAP_uc003crg.2_Silent_p.P688P|uc003cri.2_RNA	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1081	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 4.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)														---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47618735	47618735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47618735C>T	uc003crp.3	-	2	957	c.781G>A	c.(781-783)GAT>AAT	p.D261N	CSPG5_uc003crn.2_Missense_Mutation_p.D123N|CSPG5_uc003cro.3_Missense_Mutation_p.D261N|CSPG5_uc011bbb.1_Missense_Mutation_p.D123N	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	261	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47719791	47719791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47719791A>G	uc003crq.2	-	16	1586	c.1468T>C	c.(1468-1470)TAT>CAT	p.Y490H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.Y381H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	490	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47787474	47787474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47787474A>G	uc003crq.2	-	3	443	c.325T>C	c.(325-327)TTC>CTC	p.F109L	SMARCC1_uc011bbd.1_5'UTR	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	109					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889772	47889772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47889772C>T	uc003cru.2	+	15	2815	c.2389C>T	c.(2389-2391)CGA>TGA	p.R797*	DHX30_uc003crt.2_Nonsense_Mutation_p.R758*|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	797	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47890735	47890735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47890735C>A	uc003cru.2	+	19	3409	c.2983C>A	c.(2983-2985)CCC>ACC	p.P995T	DHX30_uc003crt.2_Missense_Mutation_p.P956T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	995						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200451	48200451	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48200451C>T	uc003csh.1	-	15	1923	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	CDC25A_uc003csi.1_Missense_Mutation_p.R480H	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	520				R->L: Abrogates binding to CCNB1; when associated with L-514.	cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48205845	48205845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48205845A>G	uc003csh.1	-	13	1638	c.1274T>C	c.(1273-1275)GTC>GCC	p.V425A	CDC25A_uc003csi.1_Missense_Mutation_p.V385A	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	425	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CAMP	820	broad.mit.edu	37	3	48266137	48266137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48266137G>T	uc003csj.1	+	3	494	c.354G>T	c.(352-354)AGG>AGT	p.R118S		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				upper_aerodigestive_tract(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
NME6	10201	broad.mit.edu	37	3	48336637	48336637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48336637G>A	uc003csp.3	-	5	373	c.322C>T	c.(322-324)CGC>TGC	p.R108C	NME6_uc003cso.2_Missense_Mutation_p.R116C|NME6_uc011bbh.1_Silent_p.H94H|NME6_uc010hju.2_Missense_Mutation_p.R10C|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	108					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48453266	48453266	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48453266C>T	uc003csw.2	-						PLXNB1_uc003cst.2_Intron|PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Intron	NM_002673	NP_002664			plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48456404	48456404	+	Missense_Mutation	SNP	C	T	T	rs149435305	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48456404C>T	uc003csw.2	-	21	4283	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1155H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1338H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_Missense_Mutation_p.R46H	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1338	Extracellular (Potential).|IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48615911	48615911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48615911C>T	uc003ctz.2	-	63	5463	c.5462G>A	c.(5461-5463)GGC>GAC	p.G1821D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1821	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
UQCRC1	7384	broad.mit.edu	37	3	48638105	48638105	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48638105C>T	uc003cub.1	-						UQCRC1_uc003cua.1_Intron|UQCRC1_uc003cuc.1_Intron|UQCRC1_uc003cud.1_Intron	NM_003365	NP_003356			ubiquinol-cytochrome c reductase core protein I						aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)													---	---	---	---
TMEM89	440955	broad.mit.edu	37	3	48658279	48658279	+	Missense_Mutation	SNP	C	T	T	rs150843832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48658279C>T	uc011bbo.1	-	2	476	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	159	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48697789	48697789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48697789T>A	uc003cul.2	-	1	2560	c.2279A>T	c.(2278-2280)GAG>GTG	p.E760V	CELSR3_uc003cuf.1_Missense_Mutation_p.E830V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48717233	48717233	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48717233C>T	uc003cun.2	-	7	1444	c.1350_splice	c.e7+1	p.M450_splice	NCKIPSD_uc003cum.2_Splice_Site_p.M443_splice	NM_016453	NP_057537			NCK interacting protein with SH3 domain isoform						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48725700	48725700	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48725700G>A	uc003cup.2	-	6					NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_3'UTR	NM_001005909	NP_001005909			inositol hexaphosphate kinase 2 isoform a						negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0																		---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	48965110	48965110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48965110T>C	uc003cvb.2	+	3	431	c.119T>C	c.(118-120)GTG>GCG	p.V40A	ARIH2_uc003cvc.2_Missense_Mutation_p.V40A|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.V40A|ARIH2_uc003cvd.1_Missense_Mutation_p.V40A|ARIH2_uc003cve.1_Missense_Mutation_p.V40A	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	40	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49017838	49017838	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49017838T>A	uc003cvb.2	+	13	1478	c.1166T>A	c.(1165-1167)ATT>AAT	p.I389N	ARIH2_uc003cvc.2_Missense_Mutation_p.I389N|ARIH2_uc003cvf.2_Missense_Mutation_p.I307N|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	389	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49049542	49049542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49049542C>T	uc003cvj.2	+	2	803	c.665C>T	c.(664-666)GCC>GTC	p.A222V	WDR6_uc011bbx.1_Missense_Mutation_p.A93V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A166V|WDR6_uc011bbz.1_Missense_Mutation_p.A141V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	192	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)														---	---	---	---
IMPDH2	3615	broad.mit.edu	37	3	49062235	49062235	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49062235A>G	uc003cvt.2	-	12	1388	c.1296T>C	c.(1294-1296)AGT>AGC	p.S432S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	432					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)													---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148577	49148577	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148577A>G	uc003cwd.1	-	22	3203	c.3042T>C	c.(3040-3042)GGT>GGC	p.G1014G	USP19_uc003cwa.2_Silent_p.G822G|USP19_uc003cvz.3_Silent_p.G1117G|USP19_uc011bcg.1_Silent_p.G1105G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G772G|USP19_uc011bch.1_Silent_p.G1115G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1014	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148735	49148735	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148735A>C	uc003cwd.1	-	21	3133	c.2972T>G	c.(2971-2973)ATC>AGC	p.I991S	USP19_uc003cwa.2_Missense_Mutation_p.I799S|USP19_uc003cvz.3_Missense_Mutation_p.I1094S|USP19_uc011bcg.1_Missense_Mutation_p.I1082S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.I749S|USP19_uc011bch.1_Missense_Mutation_p.I1092S	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	991	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49159770	49159770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49159770A>G	uc003cwe.2	-	28	4906	c.4607T>C	c.(4606-4608)GTG>GCG	p.V1536A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1536	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49163223	49163223	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49163223G>T	uc003cwe.2	-	18	2744	c.2445C>A	c.(2443-2445)CTC>CTA	p.L815L	LAMB2_uc003cwf.1_Silent_p.L815L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	815	Laminin EGF-like 6.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
CCDC71	64925	broad.mit.edu	37	3	49201174	49201174	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49201174A>G	uc003cwg.3	-	2	606	c.468T>C	c.(466-468)GGT>GGC	p.G156G		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	156										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49293631	49293631	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49293631A>C	uc003cwk.2	+	10	1088	c.701A>C	c.(700-702)CAG>CCG	p.Q234P	CCDC36_uc011bck.1_Missense_Mutation_p.Q234P	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234	Potential.									ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49331880	49331880	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49331880T>G	uc003cwq.2	-	14	1922	c.1843A>C	c.(1843-1845)ACC>CCC	p.T615P	USP4_uc003cwo.2_Missense_Mutation_p.T327P|USP4_uc003cwp.2_Missense_Mutation_p.T345P|USP4_uc003cwr.2_Missense_Mutation_p.T568P	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	615					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689428	49689428	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689428C>T	uc003cxe.3	+	5	2553	c.2439C>T	c.(2437-2439)GAC>GAT	p.D813D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	813					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693164	49693164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693164C>T	uc003cxe.3	+	5	6289	c.6175C>T	c.(6175-6177)CGG>TGG	p.R2059W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2059					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693315	49693315	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693315A>T	uc003cxe.3	+	5	6440	c.6326A>T	c.(6325-6327)GAC>GTC	p.D2109V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2109					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49698225	49698225	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49698225A>T	uc003cxe.3	+	6	9061	c.8947A>T	c.(8947-8949)ATC>TTC	p.I2983F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2983					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
MST1	4485	broad.mit.edu	37	3	49721785	49721785	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49721785A>G	uc003cxg.2	-	17	2050	c.1978T>C	c.(1978-1980)TGC>CGC	p.C660R		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	646	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737706	49737706	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737706G>A	uc003cxh.2	+	13	1117	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	RNF123_uc010hky.1_Missense_Mutation_p.G6D|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	344						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737739	49737739	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737739A>C	uc003cxh.2	+	13	1150	c.1064A>C	c.(1063-1065)CAG>CCG	p.Q355P	RNF123_uc010hky.1_Missense_Mutation_p.Q17P|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	355						cytoplasm	ligase activity|protein binding|zinc ion binding	p.Q355fs*60(1)		kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49740860	49740860	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49740860A>G	uc003cxh.2	+	21	1837	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	RNF123_uc010hky.1_Missense_Mutation_p.E246G|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	584						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)												OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755433	49755433	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755433C>T	uc003cxj.2	-	1	1806	c.1466G>A	c.(1465-1467)GGC>GAC	p.G489D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	489	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755718	49755718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755718C>T	uc003cxj.2	-	1	1521	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	394	Helical; (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756426	49756426	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756426G>A	uc003cxj.2	-	1	813	c.473C>T	c.(472-474)GCG>GTG	p.A158V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	158	Extracellular (Potential).|LRR 5.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756752	49756752	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756752G>C	uc003cxj.2	-	1	487	c.147C>G	c.(145-147)GGC>GGG	p.G49G	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	49	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50098595	50098595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50098595G>T	uc003cyc.2	+	13	2427	c.2294G>T	c.(2293-2295)AGG>ATG	p.R765M	RBM6_uc010hlc.1_Missense_Mutation_p.R284M|RBM6_uc003cyd.2_Missense_Mutation_p.R243M|RBM6_uc003cye.2_Missense_Mutation_p.R243M|RBM6_uc011bdi.1_Missense_Mutation_p.R107M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	765					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50220395	50220395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50220395G>A	uc003cyj.2	+	10	1160	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R290Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	321	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)														---	---	---	---
NAT6	24142	broad.mit.edu	37	3	50334959	50334959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50334959C>T	uc003czi.2	-						HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Intron|NAT6_uc003czk.3_5'UTR|NAT6_uc003czl.1_5'UTR	NM_012191	NP_036323			N-acetyltransferase 6							cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50380781	50380781	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50380781C>G	uc003dag.1	-	5	613	c.467G>C	c.(466-468)GGC>GCC	p.G156A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.G156A|ZMYND10_uc003dah.1_Missense_Mutation_p.G77A|ZMYND10_uc010hlm.1_Missense_Mutation_p.G113A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	156						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)											TSP Lung(30;0.18)			---	---	---	---
NPRL2	10641	broad.mit.edu	37	3	50385278	50385278	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50385278A>T	uc003daj.1	-	10	1390	c.987T>A	c.(985-987)TAT>TAA	p.Y329*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Nonsense_Mutation_p.Y209*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	329					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1																		---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50413106	50413106	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50413106T>C	uc003daq.2	-	21	1914	c.1876A>G	c.(1876-1878)ACC>GCC	p.T626A	CACNA2D2_uc003dap.2_Missense_Mutation_p.T626A	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	626	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)													---	---	---	---
CISH	1154	broad.mit.edu	37	3	50645243	50645243	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50645243G>A	uc003dax.2	-	3	753	c.572C>T	c.(571-573)GCG>GTG	p.A191V	CISH_uc010hlq.2_Missense_Mutation_p.A208V	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	191					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51101984G>A	uc011bds.1	+	6	444	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352414	51352414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352414A>G	uc011bds.1	+	32	3280	c.3257A>G	c.(3256-3258)GAA>GGA	p.E1086G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1086						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352435	51352435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352435C>T	uc011bds.1	+	32	3301	c.3278C>T	c.(3277-3279)CCG>CTG	p.P1093L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1093						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352488	51352488	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352488C>T	uc011bds.1	+	32	3354	c.3331C>T	c.(3331-3333)CGG>TGG	p.R1111W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1111						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51376458	51376458	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51376458A>G	uc011bds.1	+	37	3788	c.3765A>G	c.(3763-3765)ACA>ACG	p.T1255T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1255	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51393879	51393879	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51393879C>T	uc011bds.1	+	43	4481	c.4458C>T	c.(4456-4458)AGC>AGT	p.S1486S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1486	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51456125	51456125	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51456125C>G	uc003dbe.1	-						VPRBP_uc003dbf.1_Intron	NM_014703	NP_055518			HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
PCBP4	57060	broad.mit.edu	37	3	51992332	51992332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51992332C>T	uc003dcd.1	-	12	1353	c.957G>A	c.(955-957)ACG>ACA	p.T319T	PCBP4_uc003dcb.1_Silent_p.T285T|PCBP4_uc003dcc.1_Silent_p.T340T|PCBP4_uc003dce.1_Missense_Mutation_p.A321T|PCBP4_uc003dcf.1_Silent_p.T319T|PCBP4_uc003dcg.1_Silent_p.T285T|PCBP4_uc003dch.1_Silent_p.T319T|PCBP4_uc003dci.1_Silent_p.T159T|PCBP4_uc003dcj.1_Silent_p.T319T|PCBP4_uc003dck.1_Silent_p.T276T|PCBP4_uc003dcl.1_Intron	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	319						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
POC1A	25886	broad.mit.edu	37	3	52183949	52183949	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52183949C>T	uc003dcu.2	-	3	476	c.158G>A	c.(157-159)CGC>CAC	p.R53H	POC1A_uc003dcv.2_Missense_Mutation_p.R15H|POC1A_uc003dcw.2_Missense_Mutation_p.R53H	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	53	WD 1.					centriole|microtubule basal body					0																		---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52255388	52255388	+	Missense_Mutation	SNP	G	A	A	rs142806370		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52256541	52256541	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52256541A>G	uc003dda.1	-	2	2425	c.1791T>C	c.(1789-1791)AGT>AGC	p.S597S	TLR9_uc003ddb.2_Silent_p.S694S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	597	LRR 19.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257218	52257218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257218G>A	uc003dda.1	-	2	1748	c.1114C>T	c.(1114-1116)CAC>TAC	p.H372Y	TLR9_uc003ddb.2_Missense_Mutation_p.H469Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	372	LRR 12.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257565	52257565	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257565C>T	uc003dda.1	-	2	1401	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TLR9_uc003ddb.2_Missense_Mutation_p.R353H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	256	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52383021	52383021	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52383021A>T	uc011bef.1	+	13	2485	c.2224A>T	c.(2224-2226)ATC>TTC	p.I742F	DNAH1_uc003ddt.1_Missense_Mutation_p.I742F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	742	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52403902	52403902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52403902G>A	uc011bef.1	+	38	6266	c.6005G>A	c.(6004-6006)CGC>CAC	p.R2002H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2002	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52429663	52429663	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52429663A>T	uc011bef.1	+	70	11489	c.11228A>T	c.(11227-11229)GAA>GTA	p.E3743V	DNAH1_uc003ddv.2_Missense_Mutation_p.E601V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3808	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52485813	52485813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52485813G>A	uc003deb.2	-	4	290	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	88					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52486162	52486162	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52486162A>G	uc003deb.2	-	3	188	c.162T>C	c.(160-162)CCT>CCC	p.P54P	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	54	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52504925	52504925	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52504925T>C	uc011beg.1	+	5	481	c.409_splice	c.e5+2	p.G137_splice	NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice	NM_007184	NP_009115			nischarin						apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556242	52556242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556242G>A	uc003dej.2	+	59	6535	c.6461G>A	c.(6460-6462)GGC>GAC	p.G2154D	STAB1_uc003dek.1_Missense_Mutation_p.G169D|STAB1_uc003del.2_Missense_Mutation_p.G41D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2154	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556614	52556614	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556614T>G	uc003dej.2	+	61	6728	c.6654T>G	c.(6652-6654)CCT>CCG	p.P2218P	STAB1_uc003dek.1_Silent_p.P233P|STAB1_uc003del.2_Silent_p.P105P	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2218	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598072	52598072	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52598072T>A	uc003des.2	-	23	3881	c.3869A>T	c.(3868-3870)TAC>TTC	p.Y1290F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Y1290F|PBRM1_uc003der.2_Missense_Mutation_p.Y1258F|PBRM1_uc003det.2_Missense_Mutation_p.Y1305F|PBRM1_uc003deu.2_Missense_Mutation_p.Y1305F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Y1290F|PBRM1_uc010hmk.1_Missense_Mutation_p.Y1265F|PBRM1_uc003dey.2_Missense_Mutation_p.Y1265F|PBRM1_uc003dez.1_Missense_Mutation_p.Y1289F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1290					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52643740	52643740	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52643740T>C	uc003des.2	-	16	2168	c.2156A>G	c.(2155-2157)CAA>CGA	p.Q719R	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q719R|PBRM1_uc003der.2_Missense_Mutation_p.Q687R|PBRM1_uc003det.2_Missense_Mutation_p.Q734R|PBRM1_uc003deu.2_Missense_Mutation_p.Q734R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q719R|PBRM1_uc010hmk.1_Missense_Mutation_p.Q719R|PBRM1_uc003dey.2_Missense_Mutation_p.Q719R|PBRM1_uc003dez.1_Missense_Mutation_p.Q719R|PBRM1_uc003dfb.1_Missense_Mutation_p.Q632R|PBRM1_uc003dfa.1_Missense_Mutation_p.Q65R|PBRM1_uc003dfc.2_Missense_Mutation_p.Q86R	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	719	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y718_Q719>*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52745874	52745874	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52745874C>T	uc003dfq.3	-	16	2634	c.2445G>A	c.(2443-2445)CGG>CGA	p.R815R	NEK4_uc011bej.1_Silent_p.R726R	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	815					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)														---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52821105	52821105	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52821105G>T	uc003dfs.2	+	14	1902	c.1878G>T	c.(1876-1878)AAG>AAT	p.K626N	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.K227N|ITIH1_uc010hmo.1_Missense_Mutation_p.K180N|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	626	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)														---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833437	52833437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833437T>C	uc003dfv.2	+	8	875	c.839T>C	c.(838-840)GTG>GCG	p.V280A	ITIH3_uc011bek.1_Missense_Mutation_p.V280A	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	280					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52867330	52867330	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52867330C>T	uc003dgc.3	-	10					ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|MUSTN1_uc010hmq.1_Intron|MUSTN1_uc003dga.3_3'UTR|MUSTN1_uc003dgb.3_3'UTR	NM_198563	NP_940965			transmembrane protein 110							integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52877754C>T	uc003dge.2	-	6	682	c.601G>A	c.(601-603)GTC>ATC	p.V201I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V201I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	201	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52977522	52977522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52977522T>C	uc003dgf.2	-	5	780	c.211A>G	c.(211-213)ACC>GCC	p.T71A	SFMBT1_uc010hmr.2_Missense_Mutation_p.T18A|SFMBT1_uc003dgg.2_Missense_Mutation_p.T71A|SFMBT1_uc003dgh.2_Missense_Mutation_p.T71A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	71	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52988359	52988359	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52988359C>A	uc003dgf.2	-	4	666	c.97G>T	c.(97-99)GCA>TCA	p.A33S	SFMBT1_uc003dgg.2_Missense_Mutation_p.A33S|SFMBT1_uc003dgh.2_Missense_Mutation_p.A33S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	33	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
RFT1	91869	broad.mit.edu	37	3	53157860	53157860	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53157860T>C	uc003dgj.2	-						RFT1_uc003dgk.2_Intron	NM_052859	NP_443091			RFT1 homolog						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53700410	53700410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53700410A>G	uc003dgv.3	+	7	1127	c.964A>G	c.(964-966)AAT>GAT	p.N322D	CACNA1D_uc003dgu.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgy.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	322	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53757947G>A	uc003dgv.3	+	14	2184	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	CACNA1D_uc003dgu.3_Missense_Mutation_p.G694D|CACNA1D_uc003dgy.3_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.3_Missense_Mutation_p.G341D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	674	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53783420	53783420	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53783420T>C	uc003dgv.3	+	27	3603	c.3440T>C	c.(3439-3441)TTT>TCT	p.F1147S	CACNA1D_uc003dgu.3_Missense_Mutation_p.F1167S|CACNA1D_uc003dgy.3_Missense_Mutation_p.F1147S|CACNA1D_uc003dgw.3_Missense_Mutation_p.F814S|CACNA1D_uc003dgx.1_Missense_Mutation_p.F295S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1147	Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53892801	53892801	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53892801T>C	uc003dha.2	+	9	842	c.803T>C	c.(802-804)GTT>GCT	p.V268A		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	268	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)														---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53902862	53902862	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53902862T>A	uc003dhd.2	-	13	1818	c.1759A>T	c.(1759-1761)AAA>TAA	p.K587*	ACTR8_uc003dhb.2_Nonsense_Mutation_p.K292*|ACTR8_uc003dhc.2_Nonsense_Mutation_p.K476*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	587					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54157558	54157558	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54157558G>A	uc003dhf.2	+	2	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	47	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54905633	54905633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54905633A>G	uc003dhf.2	+	18	1742	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E471G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E299G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	565	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54922023	54922023	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54922023G>A	uc003dhf.2	+	24	2142	c.2094G>A	c.(2092-2094)GCG>GCA	p.A698A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A604A|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54958982	54958982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54958982C>T	uc003dhl.2	-	2	402	c.268G>A	c.(268-270)GCC>ACC	p.A90T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	90	Extracellular (Potential).|LRR 2.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)														---	---	---	---
ERC2	26059	broad.mit.edu	37	3	56114985	56114985	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56114985C>T	uc003dhr.1	-	7	1757	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	501	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)														---	---	---	---
C3orf63	23272	broad.mit.edu	37	3	56657354	56657354	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56657354T>A	uc003did.3	-	23	4642	c.4541A>T	c.(4540-4542)GAT>GTT	p.D1514V	C3orf63_uc003dib.3_Missense_Mutation_p.D633V|C3orf63_uc003dic.3_Missense_Mutation_p.D1138V|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1575										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)														---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57107810	57107810	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57107810G>A	uc003dij.1	+	2	763	c.88G>A	c.(88-90)GTT>ATT	p.V30I	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	30											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)														---	---	---	---
HESX1	8820	broad.mit.edu	37	3	57232257	57232257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57232257T>C	uc003din.3	-	4	860	c.526A>G	c.(526-528)AAA>GAA	p.K176E		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)														---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57274552	57274552	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57274552T>C	uc003dio.2	+	5	492	c.345T>C	c.(343-345)ATT>ATC	p.I115I	APPL1_uc010hnb.2_Silent_p.I115I|APPL1_uc011bey.1_Silent_p.I98I	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	115	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)														---	---	---	---
ASB14	142686	broad.mit.edu	37	3	57312659	57312659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57312659C>T	uc003diq.2	-	8	1273	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ASB14_uc003dip.1_Missense_Mutation_p.A108T	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	393	ANK 10.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58097866	58097866	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58097866A>T	uc003djj.2	+						FLNB_uc010hne.2_Intron|FLNB_uc003djk.2_Intron|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Intron|FLNB_uc003djm.2_Intron	NM_001457	NP_001448			filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58104628	58104628	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58104628T>C	uc003djj.2	+	19	2940	c.2775T>C	c.(2773-2775)GGT>GGC	p.G925G	FLNB_uc010hne.2_Silent_p.G925G|FLNB_uc003djk.2_Silent_p.G925G|FLNB_uc010hnf.2_Silent_p.G925G|FLNB_uc003djl.2_Silent_p.G756G|FLNB_uc003djm.2_Silent_p.G756G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	925	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
RPP14	11102	broad.mit.edu	37	3	58302681	58302681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58302681A>G	uc010hnh.2	+	5	707	c.279A>G	c.(277-279)GGA>GGG	p.G93G	RPP14_uc010hni.2_5'UTR|RPP14_uc003dju.3_Silent_p.G93G|RPP14_uc003djv.3_5'UTR|RPP14_uc003djw.3_5'UTR	NM_001098783	NP_001092253	O95059	RPP14_HUMAN	ribonuclease P 14kDa subunit	93					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)														---	---	---	---
PXK	54899	broad.mit.edu	37	3	58395860	58395860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58395860C>T	uc003djz.1	+	16	1538	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V	PXK_uc003djx.1_Missense_Mutation_p.A480V|PXK_uc003djy.1_Missense_Mutation_p.A463V|PXK_uc003dka.1_Missense_Mutation_p.A480V|PXK_uc003dkb.1_Missense_Mutation_p.A397V|PXK_uc003dkc.1_Missense_Mutation_p.A463V|PXK_uc011bfe.1_Missense_Mutation_p.A447V|PXK_uc010hnj.1_Missense_Mutation_p.A447V|PXK_uc003dkd.1_Missense_Mutation_p.A343V|PXK_uc010hnk.1_Missense_Mutation_p.A254V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	480	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	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)														---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58502969	58502969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58502969G>A	uc003dkl.2	-	13	1989	c.1814C>T	c.(1813-1815)GCA>GTA	p.A605V		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	605					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)														---	---	---	---
FAM3D	131177	broad.mit.edu	37	3	58639434	58639434	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58639434T>G	uc003dkq.2	-	3	385	c.88A>C	c.(88-90)AGC>CGC	p.S30R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	30					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62180761	62180761	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62180761C>T	uc003dlb.2	+	10	1963	c.1244C>T	c.(1243-1245)CCC>CTC	p.P415L	PTPRG_uc003dlc.2_Missense_Mutation_p.P415L	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	415	Fibronectin type-III.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62262706	62262706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62262706A>G	uc003dlb.2	+	25	4338	c.3619A>G	c.(3619-3621)AAT>GAT	p.N1207D	PTPRG_uc003dlc.2_Missense_Mutation_p.N1178D|PTPRG_uc011bfi.1_Missense_Mutation_p.N453D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1207	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
C3orf14	57415	broad.mit.edu	37	3	62318926	62318926	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62318926C>T	uc003dlf.2	+						C3orf14_uc010hnq.2_Intron|C3orf14_uc003dlg.2_Intron	NM_020685	NP_065736			hypothetical protein LOC57415											central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)														---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63466614	63466614	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63466614C>T	uc003dlq.2	+	2	500	c.131C>T	c.(130-132)GCG>GTG	p.A44V	SYNPR_uc003dlp.2_Missense_Mutation_p.A64V|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.A53V|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	44	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)														---	---	---	---
THOC7	80145	broad.mit.edu	37	3	63822025	63822025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63822025G>A	uc003dlt.3	-	5	493	c.362C>T	c.(361-363)GCT>GTT	p.A121V	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.A58V	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	121	Potential.|Interaction with THOC5.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)														---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63975959	63975959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63975959T>C	uc003dlw.3	+	10	2022	c.1469T>C	c.(1468-1470)TTA>TCA	p.L490S	ATXN7_uc003dlv.2_Missense_Mutation_p.L490S|ATXN7_uc010hnv.2_Missense_Mutation_p.L490S|ATXN7_uc011bfn.1_Missense_Mutation_p.L345S	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	490					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)														---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64184539	64184539	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64184539C>A	uc003dmf.2	-	2	651	c.65G>T	c.(64-66)AGG>ATG	p.R22M		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	22	PET.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64587866	64587866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64587866A>G	uc003dmg.2	-	26	3803	c.3771T>C	c.(3769-3771)GGT>GGC	p.G1257G	ADAMTS9_uc011bfo.1_Silent_p.G1229G|ADAMTS9_uc003dmh.1_Silent_p.G1086G|ADAMTS9_uc011bfp.1_Silent_p.G168G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1257	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64589923	64589923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64589923G>A	uc003dmg.2	-	24	3591	c.3559C>T	c.(3559-3561)CGA>TGA	p.R1187*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.R1159*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.R1016*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.R98*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1187	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65350521	65350521	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65350521G>A	uc003dmn.2	-						MAGI1_uc003dmm.2_Intron|MAGI1_uc003dmo.2_Intron|MAGI1_uc003dmp.2_Intron	NM_001033057	NP_001028229			membrane associated guanylate kinase, WW and PDZ						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65416466	65416466	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65416466G>A	uc003dmn.2	-	11	1980	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	MAGI1_uc003dmm.2_Missense_Mutation_p.T485M|MAGI1_uc003dmo.2_Missense_Mutation_p.T485M|MAGI1_uc003dmp.2_Missense_Mutation_p.T485M|MAGI1_uc010hny.2_Missense_Mutation_p.T370M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	485	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66430685	66430685	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66430685A>C	uc003dmx.2	-	19					SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_3'UTR|LRIG1_uc003dmw.2_3'UTR|LRIG1_uc010hnz.2_3'UTR|LRIG1_uc010hoa.2_3'UTR	NM_015541	NP_056356			leucine-rich repeats and immunoglobulin-like							integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66434438	66434438	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66434438G>T	uc003dmx.2	-	14	2062	c.2048C>A	c.(2047-2049)GCT>GAT	p.A683D	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A303D|LRIG1_uc003dmw.2_Missense_Mutation_p.A349D|LRIG1_uc010hnz.2_Missense_Mutation_p.A399D|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66467619	66467619	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66467619A>C	uc003dmx.2	-	4	451	c.437T>G	c.(436-438)CTG>CGG	p.L146R	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L146R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	146	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
KBTBD8	84541	broad.mit.edu	37	3	67054650	67054650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67054650G>A	uc003dmy.2	+	3	1312	c.1259G>A	c.(1258-1260)TGT>TAT	p.C420Y	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	420	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)														---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67426240	67426240	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67426240T>C	uc003dna.3	-	11	1255	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G	SUCLG2_uc010hob.2_Silent_p.G156G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	409					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---
LMOD3	56203	broad.mit.edu	37	3	69168050	69168050	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69168050G>A	uc003dns.2	-	2	1665	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	LMOD3_uc003dnt.2_Missense_Mutation_p.R486W	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	486						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)														---	---	---	---
MITF	4286	broad.mit.edu	37	3	69928327	69928327	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69928327C>A	uc003dnz.2	+	2	263	c.147C>A	c.(145-147)AGC>AGA	p.S49R	MITF_uc011bgb.1_5'UTR|MITF_uc003doa.2_Missense_Mutation_p.S48R|MITF_uc003dob.2_Missense_Mutation_p.S33R|MITF_uc003dod.2_Missense_Mutation_p.S24R|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
MITF	4286	broad.mit.edu	37	3	69987112	69987112	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69987112G>A	uc003dnz.2	+	3	610	c.494G>A	c.(493-495)GGC>GAC	p.G165D	MITF_uc011bgb.1_Missense_Mutation_p.G113D|MITF_uc003doa.2_Missense_Mutation_p.G164D|MITF_uc003dob.2_Missense_Mutation_p.G149D|MITF_uc003dod.2_Missense_Mutation_p.G140D|MITF_uc003doe.2_Missense_Mutation_p.G58D|MITF_uc003dof.2_Missense_Mutation_p.G58D	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71015100	71015100	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71015100C>A	uc003dol.2	-	16	2153	c.1830G>T	c.(1828-1830)ATG>ATT	p.M610I	FOXP1_uc003dom.2_Missense_Mutation_p.M534I|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.M609I|FOXP1_uc003dop.2_Missense_Mutation_p.M610I|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.M510I|FOXP1_uc003doj.2_Missense_Mutation_p.M510I|FOXP1_uc003dok.2_Missense_Mutation_p.M423I	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	610					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71026102	71026102	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71026102G>C	uc003dol.2	-	13	1843	c.1520C>G	c.(1519-1521)GCC>GGC	p.A507G	FOXP1_uc003dom.2_Missense_Mutation_p.A431G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A506G|FOXP1_uc003dop.2_Missense_Mutation_p.A507G|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A407G|FOXP1_uc003doj.2_Missense_Mutation_p.A407G|FOXP1_uc003dok.2_Missense_Mutation_p.A320G|FOXP1_uc003dor.1_Missense_Mutation_p.A284G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	507	Fork-head.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73047252	73047252	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73047252A>T	uc003dph.1	+	2	129	c.59A>T	c.(58-60)GAA>GTA	p.E20V	PPP4R2_uc003dpi.1_Missense_Mutation_p.E20V	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	20					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73432638	73432638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73432638T>C	uc003dpl.1	-	10	3175	c.3079A>G	c.(3079-3081)AAG>GAG	p.K1027E	PDZRN3_uc011bgh.1_Missense_Mutation_p.K684E|PDZRN3_uc010hoe.1_Missense_Mutation_p.K725E|PDZRN3_uc011bgf.1_Missense_Mutation_p.K744E|PDZRN3_uc011bgg.1_Missense_Mutation_p.K747E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1027							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433389	73433389	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433389G>A	uc003dpl.1	-	10	2424	c.2328C>T	c.(2326-2328)GAC>GAT	p.D776D	PDZRN3_uc011bgh.1_Silent_p.D433D|PDZRN3_uc010hoe.1_Silent_p.D474D|PDZRN3_uc011bgf.1_Silent_p.D493D|PDZRN3_uc011bgg.1_Silent_p.D496D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	776							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74383974	74383974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74420395	74420395	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74420395T>G	uc003dpm.1	-	5	690	c.610A>C	c.(610-612)AAT>CAT	p.N204H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	204	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77530337	77530337	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77530337A>G	uc003dpy.3	+	4	1277	c.634A>G	c.(634-636)AGG>GGG	p.R212G	ROBO2_uc003dpz.2_Missense_Mutation_p.R212G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R212G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	212	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77629161	77629161	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77629161T>A	uc003dpy.3	+	16	3035	c.2392T>A	c.(2392-2394)TCC>ACC	p.S798T	ROBO2_uc003dpz.2_Missense_Mutation_p.S802T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.S802T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	798	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77684140	77684140	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77684140G>T	uc003dpy.3	+	24	4523	c.3880G>T	c.(3880-3882)GGG>TGG	p.G1294W	ROBO2_uc003dpz.2_Missense_Mutation_p.G1359W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1298W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1294	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78680329	78680329	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78680329T>C	uc003dqe.2	-	25	3816	c.3608A>G	c.(3607-3609)AAC>AGC	p.N1203S	ROBO1_uc003dqb.2_Missense_Mutation_p.N1164S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1103S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1158S|ROBO1_uc010hoh.2_Missense_Mutation_p.N395S|ROBO1_uc011bgl.1_Missense_Mutation_p.N775S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1203	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78763600	78763600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78763600A>G	uc003dqe.2	-	8	1200	c.992T>C	c.(991-993)GTT>GCT	p.V331A	ROBO1_uc003dqb.2_Missense_Mutation_p.V292A|ROBO1_uc003dqc.2_Missense_Mutation_p.V292A|ROBO1_uc003dqd.2_Missense_Mutation_p.V292A|ROBO1_uc003dqf.1_Missense_Mutation_p.V7A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	331	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
POU1F1	5449	broad.mit.edu	37	3	87313466	87313466	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:87313466A>G	uc003dqq.1	-	3	536	c.411T>C	c.(409-411)AAT>AAC	p.N137N	POU1F1_uc010hoj.1_Silent_p.N163N	NM_000306	NP_000297	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	137	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)														---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88040099T>C	uc003dqr.2	+	2	358	c.200T>C	c.(199-201)GTC>GCC	p.V67A		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)													---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205231	88205231	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88205231T>C	uc003dqw.2	+	4	747	c.436T>C	c.(436-438)TGT>CGT	p.C146R		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	146					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391057	89391057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89391057C>T	uc003dqy.2	+	5	1348	c.1123C>T	c.(1123-1125)CCA>TCA	p.P375S	EPHA3_uc003dqx.1_Missense_Mutation_p.P375S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	375	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89498434	89498434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89498434G>A	uc003dqy.2	+	14	2631	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	802	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
STX19	415117	broad.mit.edu	37	3	93733654	93733654	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:93733654T>C	uc003drh.1	-	2	717	c.460A>G	c.(460-462)ACA>GCA	p.T154A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	154					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945107	96945107	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945107G>A	uc010how.1	+	4	1158	c.1115_splice	c.e4-1	p.A372_splice	EPHA6_uc003drp.1_Splice_Site_p.A372_splice	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945273	96945273	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945273T>C	uc010how.1	+						EPHA6_uc003drp.1_Intron	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97251327	97251327	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97251327A>G	uc010how.1	+	11	2369	c.2326A>G	c.(2326-2328)AGT>GGT	p.S776G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.S142G|EPHA6_uc003drs.3_Missense_Mutation_p.S168G|EPHA6_uc003drr.3_Missense_Mutation_p.S168G|EPHA6_uc003drt.2_Missense_Mutation_p.S168G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	681	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97596328	97596328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97596328A>T	uc003drx.2	+	1	510	c.446A>T	c.(445-447)GAC>GTC	p.D149V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0																		---	---	---	---
MINA	84864	broad.mit.edu	37	3	97680537	97680537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97680537T>A	uc003drz.1	-	3	954	c.448A>T	c.(448-450)ATC>TTC	p.I150F	MINA_uc003dsa.1_Missense_Mutation_p.I150F|MINA_uc003dsb.1_Missense_Mutation_p.I150F|MINA_uc003dsc.1_Missense_Mutation_p.I150F|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	150	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806045	97806045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97806045T>C	uc011bgs.1	+	1	29	c.29T>C	c.(28-30)CTT>CCT	p.L10P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868324	97868324	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97868324T>C	uc003dsg.1	+	1	95	c.95T>C	c.(94-96)TTG>TCG	p.L32S		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983222	97983222	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983222G>T	uc003dsi.1	+	1	94	c.94G>T	c.(94-96)GGA>TGA	p.G32*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983483	97983483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983483T>C	uc003dsi.1	+	1	355	c.355T>C	c.(355-357)TCC>CCC	p.S119P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002053	98002053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002053T>C	uc003dsj.1	+	1	322	c.322T>C	c.(322-324)TCC>CCC	p.S108P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002164	98002164	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002164C>T	uc003dsj.1	+	1	433	c.433C>T	c.(433-435)CTA>TTA	p.L145L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98217044	98217044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98217044A>G	uc011bgx.1	+	1	520	c.520A>G	c.(520-522)ATC>GTC	p.I174V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2																		---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251463	98251463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98251463T>C	uc011bgy.1	+	1	586	c.586T>C	c.(586-588)TCC>CCC	p.S196P		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	196	Helical; Name=5; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)														---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98510729	98510729	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98510729G>A	uc003dsz.2	+	9	1037	c.801G>A	c.(799-801)GCG>GCA	p.A267A	ST3GAL6_uc003dsy.2_Silent_p.A181A|ST3GAL6_uc003dta.2_Silent_p.A149A|ST3GAL6_uc003dtb.2_Silent_p.A123A|ST3GAL6_uc003dtc.2_Silent_p.A267A|ST3GAL6_uc010hpd.2_Silent_p.A320A	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	267	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518401	98518401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98518401A>G	uc003dtd.2	-	16	2506	c.2143T>C	c.(2143-2145)TAC>CAC	p.Y715H	DCBLD2_uc003dte.2_Missense_Mutation_p.Y729H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	715	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98600376	98600376	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98600376A>G	uc003dtd.2	-						DCBLD2_uc003dte.2_Intron|DCBLD2_uc003dtf.1_Intron	NM_080927	NP_563615			discoidin, CUB and LCCL domain containing 2						cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99513553	99513553	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99513553G>T	uc003dtg.1	+	5	1053	c.808G>T	c.(808-810)GGA>TGA	p.G270*	COL8A1_uc003dth.1_Nonsense_Mutation_p.G270*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G271*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	270	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99567352	99567352	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99567352A>G	uc003dtm.2	-	5	3631	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T1056T|FILIP1L_uc010hpf.2_Silent_p.T632T|FILIP1L_uc010hpg.2_Silent_p.T816T|FILIP1L_uc003dtn.2_Silent_p.T816T|FILIP1L_uc003dtp.1_Silent_p.T816T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1056						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568036	99568036	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99568036A>G	uc003dtm.2	-	5	2947	c.2484T>C	c.(2482-2484)TAT>TAC	p.Y828Y	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.Y828Y|FILIP1L_uc010hpf.2_Silent_p.Y404Y|FILIP1L_uc010hpg.2_Silent_p.Y588Y|FILIP1L_uc003dtn.2_Silent_p.Y588Y|FILIP1L_uc003dtp.1_Silent_p.Y588Y	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	828						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99569857	99569857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99569857C>A	uc003dtm.2	-	5	1126	c.663G>T	c.(661-663)AAG>AAT	p.K221N	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K221N|FILIP1L_uc010hpf.2_Translation_Start_Site|FILIP1L_uc010hpg.2_Translation_Start_Site|FILIP1L_uc003dtn.2_Translation_Start_Site|FILIP1L_uc003dtp.1_Translation_Start_Site	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	221	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100067663	100067663	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100067663A>C	uc003dtv.2	+	7	596	c.522A>C	c.(520-522)GTA>GTC	p.V174V	NIT2_uc011bha.1_Missense_Mutation_p.Y143S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	174	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1																		---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148609	100148609	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100148609T>C	uc003dtx.3	+	2	1316	c.36T>C	c.(34-36)TCT>TCC	p.S12S	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	12											0																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413729	100413729	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413729T>C	uc003duc.2	+	16	2546	c.2278T>C	c.(2278-2280)TAT>CAT	p.Y760H	GPR128_uc011bhc.1_Missense_Mutation_p.Y461H|GPR128_uc003dud.2_Missense_Mutation_p.Y283H	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	760	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413823	100413823	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413823A>T	uc003duc.2	+	16	2640	c.2372A>T	c.(2371-2373)GAC>GTC	p.D791V	GPR128_uc011bhc.1_Missense_Mutation_p.D492V|GPR128_uc003dud.2_Missense_Mutation_p.D314V	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	791	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100964745	100964745	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100964745T>C	uc003duq.1	-	12	1647	c.1444A>G	c.(1444-1446)AGC>GGC	p.S482G	IMPG2_uc011bhe.1_Missense_Mutation_p.S345G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	482	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101047497	101047497	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101047497A>G	uc003dut.2	-	21	2899	c.2788T>C	c.(2788-2790)TGT>CGT	p.C930R	SENP7_uc003duu.2_Missense_Mutation_p.C865R|SENP7_uc003duv.2_Missense_Mutation_p.C897R|SENP7_uc003duw.2_Missense_Mutation_p.C864R|SENP7_uc003dux.2_Missense_Mutation_p.C766R|SENP7_uc003dus.2_Missense_Mutation_p.C118R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	930	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101080556	101080556	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101080556T>A	uc003dut.2	-						SENP7_uc003duu.2_Intron|SENP7_uc003duv.2_Intron|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705			sentrin/SUMO-specific protease 7 isoform 1						proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311518	101311518	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311518A>G	uc003dva.2	+	5	476	c.458A>G	c.(457-459)CAT>CGT	p.H153R	PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	153					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101370373	101370373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101370373C>T	uc003dve.3	-	11	3029	c.2799G>A	c.(2797-2799)ATG>ATA	p.M933I		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	933	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
FAM55C	91775	broad.mit.edu	37	3	101525942	101525942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101525942G>A	uc003dvn.2	+	6	1531	c.894G>A	c.(892-894)TGG>TGA	p.W298*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.W298*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	298						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
CBLB	868	broad.mit.edu	37	3	105378039	105378039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:105378039T>C	uc003dwc.2	-	19	3046	c.2724A>G	c.(2722-2724)CCA>CCG	p.P908P	CBLB_uc003dwa.2_Silent_p.P123P|CBLB_uc011bhi.1_Silent_p.P886P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	908	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9								Mis S		AML								---	---	---	---
BBX	56987	broad.mit.edu	37	3	107463488	107463488	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107463488C>T	uc010hpr.2	+	8	1008	c.681C>T	c.(679-681)GGC>GGT	p.G227G	BBX_uc003dwk.3_Silent_p.G227G|BBX_uc003dwl.3_Silent_p.G227G|BBX_uc010hps.1_Silent_p.G248G|BBX_uc003dwm.3_Silent_p.G227G	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108300296	108300296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108300296T>C	uc003dxb.3	-	5	784	c.515A>G	c.(514-516)CAC>CGC	p.H172R	KIAA1524_uc003dxc.1_Missense_Mutation_p.H13R|KIAA1524_uc010hpw.1_Missense_Mutation_p.H13R	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	172						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108303909	108303909	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108303909T>C	uc003dxb.3	-						KIAA1524_uc003dxc.1_Intron|KIAA1524_uc010hpw.1_Intron	NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108366943	108366943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108366943T>C	uc003dxd.2	+	16	2368	c.1946T>C	c.(1945-1947)CTT>CCT	p.L649P	DZIP3_uc003dxf.1_Missense_Mutation_p.L649P|DZIP3_uc011bhm.1_Missense_Mutation_p.L100P|DZIP3_uc003dxe.1_Missense_Mutation_p.L649P|DZIP3_uc003dxg.1_Missense_Mutation_p.L372P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	649	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108392929	108392929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108392929A>T	uc003dxd.2	+	24	3016	c.2594A>T	c.(2593-2595)TAT>TTT	p.Y865F	DZIP3_uc003dxf.1_Missense_Mutation_p.Y865F|DZIP3_uc011bhm.1_Missense_Mutation_p.Y316F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	865					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108639352	108639352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108639352C>T	uc003dxj.2	-	2	353	c.285G>A	c.(283-285)TGG>TGA	p.W95*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W95*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	95	EF-hand 3.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0																		---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110840996	110840996	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:110840996T>C	uc003dxt.1	+	4	828	c.828T>C	c.(826-828)TAT>TAC	p.Y276Y	PVRL3_uc003dxu.1_Silent_p.Y253Y	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	276	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2																		---	---	---	---
CD96	10225	broad.mit.edu	37	3	111356947	111356947	+	Missense_Mutation	SNP	C	T	T	rs146409785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111356947C>T	uc003dxw.2	+	13	1627	c.1457C>T	c.(1456-1458)GCC>GTC	p.A486V	CD96_uc003dxx.2_Missense_Mutation_p.A470V|CD96_uc010hpy.1_Missense_Mutation_p.A469V	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	486	Extracellular (Potential).|Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111692618	111692618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111692618A>G	uc010hqa.2	+	17	3986	c.3575A>G	c.(3574-3576)CAA>CGA	p.Q1192R	PHLDB2_uc003dyc.2_Missense_Mutation_p.Q1176R|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q1192R|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q683R|PHLDB2_uc003dyj.2_Missense_Mutation_p.Q247R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1192	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111873873	111873873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111873873C>T	uc003dyu.2	-	27	3610	c.3388G>A	c.(3388-3390)GGC>AGC	p.G1130S	SLC9A10_uc011bhu.1_Missense_Mutation_p.G393S|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1082S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1130					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111921193	111921193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111921193C>A	uc003dyu.2	-	18	2448	c.2226G>T	c.(2224-2226)AAG>AAT	p.K742N	SLC9A10_uc011bhu.1_Missense_Mutation_p.K5N|SLC9A10_uc010hqc.2_Missense_Mutation_p.K694N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	742					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
SLC35A5	55032	broad.mit.edu	37	3	112299708	112299708	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112299708C>T	uc003dze.2	+	6	989	c.744C>T	c.(742-744)ATC>ATT	p.I248I		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	248	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358757	112358757	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112358757T>C	uc003dzf.2	-	2					CCDC80_uc011bhv.1_5'UTR|CCDC80_uc003dzg.2_5'UTR|CCDC80_uc003dzh.1_5'UTR	NM_199512	NP_955806			steroid-sensitive protein 1 precursor											ovary(2)	2																		---	---	---	---
BOC	91653	broad.mit.edu	37	3	112999441	112999441	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112999441G>T	uc003dzx.2	+	14	2860	c.2239G>T	c.(2239-2241)GGC>TGC	p.G747C	BOC_uc003dzy.2_Missense_Mutation_p.G747C|BOC_uc003dzz.2_Missense_Mutation_p.G748C|BOC_uc003eab.2_Missense_Mutation_p.G448C|BOC_uc003eac.2_Missense_Mutation_p.G62C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	747	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)															---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113166994	113166994	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113166994T>C	uc003eag.3	-						CCDC52_uc003eaf.3_Intron	NM_144718	NP_653319			coiled-coil domain containing 52						cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113169271	113169271	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113169271T>A	uc003eag.3	-	15	2526	c.2235A>T	c.(2233-2235)CTA>CTT	p.L745L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L641L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	745	Potential.				cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113346561	113346561	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113346561C>T	uc003eak.2	+	25					SIDT1_uc011big.1_3'UTR|SIDT1_uc011bii.1_3'UTR	NM_017699	NP_060169			SID1 transmembrane family, member 1 precursor							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375207	113375207	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375207A>C	uc003eam.2	-	7	5733	c.5322T>G	c.(5320-5322)GCT>GCG	p.A1774A	KIAA2018_uc003eal.2_Silent_p.A1718A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1774					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375611	113375611	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375611T>A	uc003eam.2	-	7	5329	c.4918A>T	c.(4918-4920)ATG>TTG	p.M1640L	KIAA2018_uc003eal.2_Missense_Mutation_p.M1584L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1640					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375915	113375915	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375915T>C	uc003eam.2	-	7	5025	c.4614A>G	c.(4612-4614)TTA>TTG	p.L1538L	KIAA2018_uc003eal.2_Silent_p.L1482L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1538	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377880	113377880	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113377880A>G	uc003eam.2	-	7	3060	c.2649T>C	c.(2647-2649)TCT>TCC	p.S883S	KIAA2018_uc003eal.2_Silent_p.S827S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	883	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378568	113378568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113378568A>G	uc003eam.2	-	7	2372	c.1961T>C	c.(1960-1962)GTT>GCT	p.V654A	KIAA2018_uc003eal.2_Missense_Mutation_p.V598A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	654					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
QTRTD1	79691	broad.mit.edu	37	3	113798905	113798905	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113798905G>T	uc003eay.2	+	8	1128	c.898_splice	c.e8+1	p.L300_splice	QTRTD1_uc003eaz.2_Splice_Site_p.L312_splice|QTRTD1_uc011biq.1_Splice_Site_p.L177_splice|QTRTD1_uc011bir.1_Splice_Site_p.L194_splice	NM_024638	NP_078914			queuine tRNA-ribosyltransferase domain						queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890743	113890743	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113890743C>T	uc003ebd.2	-	3	520	c.97G>A	c.(97-99)GCC>ACC	p.A33T	DRD3_uc010hqn.1_Missense_Mutation_p.A33T|DRD3_uc003ebb.1_Missense_Mutation_p.A33T|DRD3_uc003ebc.1_Missense_Mutation_p.A33T	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	33	Helical; Name=1.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.A33D(1)		ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)													---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115738431	115738431	+	Missense_Mutation	SNP	C	T	T	rs143751711		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:115738431C>T	uc003ebt.2	-	3	945	c.445G>A	c.(445-447)GTG>ATG	p.V149M	LSAMP_uc011bis.1_Missense_Mutation_p.V149M	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	149	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)														---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621666	118621666	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118621666C>A	uc003ebw.2	-	7	1244	c.997G>T	c.(997-999)GAG>TAG	p.E333*	IGSF11_uc011biv.1_Nonsense_Mutation_p.E305*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E309*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E332*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E308*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E332*	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	333	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0																		---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118867070	118867070	+	Missense_Mutation	SNP	G	A	A	rs138537972		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118867070G>A	uc003ecb.1	+	2	1482	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R481H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	481										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)														---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119084197	119084197	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119084197A>G	uc003ecj.3	+	2	667	c.135A>G	c.(133-135)ATA>ATG	p.I45M		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	45	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119120684	119120684	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119120684G>C	uc003ecj.3	+	10	1617	c.1085G>C	c.(1084-1086)GGA>GCA	p.G362A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119207829	119207829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119207829A>G	uc003ecm.2	+	8	876	c.792A>G	c.(790-792)AAA>AAG	p.K264K	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.K105K	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	264						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119306347	119306347	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119306347A>T	uc003ecs.2	+	5	994	c.696A>T	c.(694-696)AAA>AAT	p.K232N	ADPRH_uc010hqv.2_Missense_Mutation_p.K232N|ADPRH_uc011bjb.1_Missense_Mutation_p.K125N|ADPRH_uc003ect.2_Missense_Mutation_p.K232N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)														---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119912236	119912236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119912236A>G	uc011bjf.1	-	3	269	c.269T>C	c.(268-270)GTG>GCG	p.V90A	GPR156_uc011bjg.1_Missense_Mutation_p.V90A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	90	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120369653	120369653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120369653G>A	uc003edw.2	-	6	772	c.402C>T	c.(400-402)CAC>CAT	p.H134H	HGD_uc003edv.2_5'UTR	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120393819	120393819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120393819G>A	uc003edw.2	-	3	475	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	35					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120500128	120500128	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120500128A>G	uc003edz.3	+	5	1245	c.1131A>G	c.(1129-1131)CGA>CGG	p.R377R		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120924830	120924830	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120924830A>G	uc003eec.3	+	10	1078	c.938A>G	c.(937-939)TAC>TGC	p.Y313C	STXBP5L_uc011bji.1_Missense_Mutation_p.Y313C	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	313	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120998642	120998642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120998642T>C	uc003eec.3	+						STXBP5L_uc011bji.1_Intron	NM_014980	NP_055795			syntaxin binding protein 5-like						exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121263672	121263672	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121263672T>A	uc003eee.3	-	2	374	c.245A>T	c.(244-246)GAA>GTA	p.E82V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	82					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341232	121341232	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121341232T>A	uc003eeg.2	+	3	1166	c.956T>A	c.(955-957)ATA>AAA	p.I319K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	319					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121383850	121383850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121383850G>A	uc003eei.3	-	21	9694	c.9568C>T	c.(9568-9570)CGG>TGG	p.R3190W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3200W|GOLGB1_uc003eej.3_Missense_Mutation_p.R3156W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3190	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416590	121416590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121416590A>G	uc003eei.3	-	13	2891	c.2765T>C	c.(2764-2766)TTT>TCT	p.F922S	GOLGB1_uc010hrc.2_Missense_Mutation_p.F927S|GOLGB1_uc003eej.3_Missense_Mutation_p.F888S|GOLGB1_uc011bjm.1_Missense_Mutation_p.F808S|GOLGB1_uc010hrd.1_Missense_Mutation_p.F886S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	922	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121433709	121433709	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121433709T>C	uc003eei.3	-	10	1514	c.1388A>G	c.(1387-1389)CAG>CGG	p.Q463R	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q468R|GOLGB1_uc003eej.3_Missense_Mutation_p.Q429R|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q349R|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q427R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	463	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121448715	121448715	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121448715T>C	uc003eei.3	-	3	372	c.246A>G	c.(244-246)CTA>CTG	p.L82L	GOLGB1_uc010hrc.2_Silent_p.L82L|GOLGB1_uc003eej.3_Silent_p.L43L|GOLGB1_uc011bjm.1_Silent_p.L43L|GOLGB1_uc010hrd.1_Silent_p.L82L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	82	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121576008	121576008	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121576008A>G	uc003een.2	+						EAF2_uc003eeo.2_Intron	NM_018456	NP_060926			ELL associated factor 2						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)														---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121634113	121634113	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121634113T>A	uc003eep.2	+	6	721	c.568T>A	c.(568-570)TCC>ACC	p.S190T	SLC15A2_uc011bjn.1_Missense_Mutation_p.S159T	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	190	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---
CASR	846	broad.mit.edu	37	3	121973127	121973127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121973127G>A	uc003eev.3	+	2	463	c.91G>A	c.(91-93)GAC>AAC	p.D31N	CASR_uc003eew.3_Missense_Mutation_p.D31N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	31	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CASR	846	broad.mit.edu	37	3	122002928	122002928	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122002928G>T	uc003eev.3	+	7	2499	c.2127G>T	c.(2125-2127)AAG>AAT	p.K709N	CASR_uc003eew.3_Missense_Mutation_p.K719N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	709	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CCDC58	131076	broad.mit.edu	37	3	122087062	122087062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122087062A>T	uc003eey.2	-	3	288	c.285T>A	c.(283-285)GAT>GAA	p.D95E		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	95	Potential.										0				GBM - Glioblastoma multiforme(114;0.148)														---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122133953	122133953	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122133953G>A	uc003efa.1	-	1	930	c.423C>T	c.(421-423)ATC>ATT	p.I141I		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	141	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)														---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259515	122259515	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122259515T>G	uc010hri.2	-	8	1819	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PARP9_uc003eff.3_Missense_Mutation_p.E523D|PARP9_uc011bjs.1_Missense_Mutation_p.E523D|PARP9_uc003efg.2_Missense_Mutation_p.E103D|PARP9_uc003efi.2_Missense_Mutation_p.E523D|PARP9_uc003efh.2_Missense_Mutation_p.E558D|PARP9_uc003efj.2_Missense_Mutation_p.E523D	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	558					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)														---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287953	122287953	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122287953C>T	uc003efk.2	+	3	1106	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	339					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)														---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122334584	122334584	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122334584T>C	uc003efm.2	+						PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Intron|PARP15_uc003efp.1_Silent_p.L10L|PARP15_uc011bjt.1_Silent_p.L10L	NM_001113523	NP_001106995			poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418877	122418877	+	Silent	SNP	G	A	A	rs144051474	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418877G>A	uc003efq.3	+	6	1535	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.T209T|PARP14_uc003efs.1_Silent_p.T209T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437464	122437464	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122437464A>G	uc003efq.3	+	14	4525	c.4466A>G	c.(4465-4467)GAC>GGC	p.D1489G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D1206G|PARP14_uc003efs.1_Missense_Mutation_p.D1206G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122641228	122641228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122641228G>A	uc003efz.1	-	11	1643	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	SEMA5B_uc011bju.1_Missense_Mutation_p.R389C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R447C|SEMA5B_uc010hro.1_Missense_Mutation_p.R389C|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	447	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122808124	122808124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122808124T>C	uc003egc.1	+	2	208	c.152T>C	c.(151-153)GTG>GCG	p.V51A	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	51					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869205	122869205	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122869205G>A	uc003egc.1	+	14	1323	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	423	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123018977	123018977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123018977C>T	uc003egh.1	-	15	2890	c.2890G>A	c.(2890-2892)GCC>ACC	p.A964T	ADCY5_uc003egg.1_Missense_Mutation_p.A597T|ADCY5_uc003egi.1_Missense_Mutation_p.A523T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	964					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123166319	123166319	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123166319G>A	uc003egh.1	-	1	1074	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	358					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123376176	123376176	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123376176G>T	uc003ego.2	-	24	4367	c.4085C>A	c.(4084-4086)GCT>GAT	p.A1362D	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.A162D|MYLK_uc011bjw.1_Missense_Mutation_p.A1362D|MYLK_uc003egp.2_Missense_Mutation_p.A1293D|MYLK_uc003egq.2_Missense_Mutation_p.A1362D|MYLK_uc003egr.2_Missense_Mutation_p.A1293D|MYLK_uc003egs.2_Missense_Mutation_p.A1186D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1362	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)														---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123634043	123634043	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123634043T>C	uc011bjx.1	-	13	2536	c.2445A>G	c.(2443-2445)GGA>GGG	p.G815G	CCDC14_uc003egv.3_Silent_p.G456G|CCDC14_uc003egx.3_Silent_p.G615G|CCDC14_uc010hrt.2_Silent_p.G774G|CCDC14_uc003egy.3_Silent_p.G615G|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	815						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124132336	124132336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124132336C>T	uc003ehg.2	+	14	2487	c.2360C>T	c.(2359-2361)GCC>GTC	p.A787V	KALRN_uc010hrv.1_Missense_Mutation_p.A787V|KALRN_uc003ehf.1_Missense_Mutation_p.A787V|KALRN_uc011bjy.1_Missense_Mutation_p.A787V|KALRN_uc003ehh.1_Missense_Mutation_p.A133V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124215187	124215187	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124215187G>T	uc003ehg.2	+	33	4983	c.4856G>T	c.(4855-4857)GGG>GTG	p.G1619V	KALRN_uc010hrv.1_Missense_Mutation_p.G1610V|KALRN_uc003ehf.1_Missense_Mutation_p.G1619V|KALRN_uc011bjy.1_Missense_Mutation_p.G1610V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1619					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124379771	124379771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124379771A>G	uc003ehg.2	+	44	6342	c.6215A>G	c.(6214-6216)GAC>GGC	p.D2072G	KALRN_uc003ehi.2_Missense_Mutation_p.D413G|KALRN_uc003ehk.2_Missense_Mutation_p.D375G|KALRN_uc011bjz.1_Missense_Mutation_p.D164G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2071	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124415108	124415108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124415108G>T	uc003ehg.2	+						KALRN_uc003ehk.2_Intron	NM_001024660	NP_001019831			kalirin, RhoGEF kinase isoform 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124728610	124728610	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124728610C>A	uc003ehs.3	-	8	3200	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	HEG1_uc011bke.1_Missense_Mutation_p.Q1144H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1044	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124731782	124731782	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124731782G>A	uc003ehs.3	-	6	2709	c.2641C>T	c.(2641-2643)CTC>TTC	p.L881F	HEG1_uc011bke.1_Missense_Mutation_p.L981F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	881	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125271019	125271019	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125271019A>G	uc003eic.2	-							NM_022776	NP_073613			oxysterol binding protein-like 11						lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125651561	125651561	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125651561A>T	uc003eig.1	-							NM_001015050	NP_001015050			asparagine-linked glycosylation 1-like								transferase activity, transferring glycosyl groups				0																		---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125734386	125734386	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125734386A>G	uc003eij.2	-	8	1147	c.921T>C	c.(919-921)GTT>GTC	p.V307V	SLC41A3_uc003eii.2_Silent_p.V281V|SLC41A3_uc003eil.2_Silent_p.V307V|SLC41A3_uc003eik.2_Silent_p.V271V|SLC41A3_uc011bkh.1_Silent_p.V190V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	307						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125741771	125741771	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125741771C>G	uc003eij.2	-	6	829	c.603G>C	c.(601-603)GTG>GTC	p.V201V	SLC41A3_uc003eii.2_Silent_p.V175V|SLC41A3_uc003eil.2_Silent_p.V201V|SLC41A3_uc003eik.2_Silent_p.V165V|SLC41A3_uc011bkh.1_Silent_p.V84V|SLC41A3_uc010hsd.1_Silent_p.V216V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	201	Helical; (Potential).					integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125787043	125787043	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125787043C>T	uc003eij.2	-	2	246	c.20G>A	c.(19-21)CGG>CAG	p.R7Q	SLC41A3_uc003eil.2_Missense_Mutation_p.R7Q|SLC41A3_uc003eik.2_Missense_Mutation_p.R7Q|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.R7Q	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	7						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125850318	125850318	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125850318G>A	uc003eim.1	-	13	1722	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.A410V|ALDH1L1_uc003eio.2_Missense_Mutation_p.A213V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	511	Aldehyde dehydrogenase.		A -> V (in a colorectal cancer sample; somatic mutation).		10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.A511V(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125879768	125879768	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125879768G>T	uc003eim.1	-	2	245	c.55C>A	c.(55-57)CTG>ATG	p.L19M	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L19M|ALDH1L1_uc010hsf.1_Translation_Start_Site|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_Translation_Start_Site	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	19	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126216888	126216888	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126216888C>T	uc003eiz.1	-						UROC1_uc010hsi.1_Intron	NM_144639	NP_653240			urocanase domain containing 1 isoform 1						histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126224593	126224593	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126224593G>T	uc003eiz.1	-	8	796	c.764C>A	c.(763-765)GCT>GAT	p.A255D	UROC1_uc010hsi.1_Missense_Mutation_p.A255D	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	255					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126730880	126730880	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126730880A>G	uc003ejg.2	+	9	2127	c.2123A>G	c.(2122-2124)AAC>AGC	p.N708S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	731	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126749143	126749143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126749143C>T	uc003ejg.2	+	28	5054	c.5050C>T	c.(5050-5052)CGG>TGG	p.R1684W	PLXNA1_uc003ejh.2_Missense_Mutation_p.R352W	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1707	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327330	127327330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127327330G>A	uc003ejp.2	+	7	1264	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	MCM2_uc011bkm.1_Missense_Mutation_p.V273M|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V287M	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	403					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127395250	127395250	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127395250T>C	uc003ejt.2	+	5	544	c.456T>C	c.(454-456)AGT>AGC	p.S152S	ABTB1_uc003ejr.2_Silent_p.S10S|ABTB1_uc003ejs.2_Silent_p.S127S|ABTB1_uc003eju.2_Silent_p.S10S|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	152	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0																		---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127817786	127817786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127817786C>T	uc003ekh.2	-	7	860	c.756G>A	c.(754-756)GGG>GGA	p.G252G	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.G192G|RUVBL1_uc010hss.2_Silent_p.G252G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	252					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127831737	127831737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127831737C>T	uc003ekh.2	-	3	459	c.355G>A	c.(355-357)GCC>ACC	p.A119T	RUVBL1_uc003ekf.2_Missense_Mutation_p.A59T|RUVBL1_uc010hss.2_Missense_Mutation_p.A119T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	119					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127965841	127965841	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127965841T>A	uc003eki.2	+	2	517	c.479T>A	c.(478-480)ATT>AAT	p.I160N	EEFSEC_uc003ekj.2_Missense_Mutation_p.I160N	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	160						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	128077166	128077166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128077166T>C	uc003eki.2	+	6	1588	c.1550T>C	c.(1549-1551)ATC>ACC	p.I517T	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	517						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128707683	128707683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128707683C>T	uc003elj.3	-	3	537	c.341G>A	c.(340-342)CGT>CAT	p.R114H	KIAA1257_uc003elg.1_Missense_Mutation_p.R114H|KIAA1257_uc003eli.3_Missense_Mutation_p.R2H	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	114											0																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128711957	128711957	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128711957G>T	uc003elj.3	-	2	387	c.191C>A	c.(190-192)ACT>AAT	p.T64N	KIAA1257_uc003elg.1_Missense_Mutation_p.T64N|KIAA1257_uc003eli.3_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	64											0																		---	---	---	---
GP9	2815	broad.mit.edu	37	3	128780907	128780907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128780907C>T	uc003elm.2	+	3	512	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	109	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)													---	---	---	---
RAB43	339122	broad.mit.edu	37	3	128813922	128813922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128813922C>T	uc003eln.1	-	2	582	c.295G>A	c.(295-297)GAC>AAC	p.D99N	RAB43_uc003elo.1_Silent_p.T314T|RAB43_uc010hsy.1_Missense_Mutation_p.D99N	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	RAB43 protein	99					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	129137111	129137111	+	Missense_Mutation	SNP	C	T	T	rs149643945	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129137111C>T	uc003emg.2	-	3	830	c.667G>A	c.(667-669)GCG>ACG	p.A223T		NM_207307	NP_997190			hypothetical protein LOC90288																														---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129152683	129152683	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129152683A>G	uc003emh.1	-						MBD4_uc003emi.1_Intron|MBD4_uc003emj.1_Intron|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Intron	NM_003925	NP_003916			methyl-CpG binding domain protein 4						depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2													BER_DNA_glycosylases					---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129185775	129185775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129185775C>T	uc003emm.2	+	8	812	c.606C>T	c.(604-606)GCC>GCT	p.A202A	IFT122_uc003eml.2_Silent_p.A253A|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.A52A|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	202					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195221	129195221	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195221T>C	uc003emm.2	+	10	1086	c.880T>C	c.(880-882)TAC>CAC	p.Y294H	IFT122_uc003eml.2_Missense_Mutation_p.Y345H|IFT122_uc003emn.2_Missense_Mutation_p.Y235H|IFT122_uc003emo.2_Missense_Mutation_p.Y183H|IFT122_uc003emp.2_Missense_Mutation_p.Y144H|IFT122_uc010htc.2_Missense_Mutation_p.Y286H|IFT122_uc011bky.1_Missense_Mutation_p.Y85H|IFT122_uc003emq.2_Missense_Mutation_p.Y134H|IFT122_uc003emr.2_Missense_Mutation_p.Y85H|IFT122_uc011bla.1_Missense_Mutation_p.Y85H|IFT122_uc011bkx.1_Missense_Mutation_p.Y134H|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	294	WD 5.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195527	129195527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195527A>G	uc003emm.2	+	11	1236	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	IFT122_uc003eml.2_Missense_Mutation_p.T395A|IFT122_uc003emn.2_Missense_Mutation_p.T285A|IFT122_uc003emo.2_Missense_Mutation_p.T233A|IFT122_uc003emp.2_Missense_Mutation_p.T194A|IFT122_uc010htc.2_Missense_Mutation_p.T336A|IFT122_uc011bky.1_Missense_Mutation_p.T135A|IFT122_uc003emq.2_Missense_Mutation_p.T184A|IFT122_uc003emr.2_Missense_Mutation_p.T135A|IFT122_uc011bla.1_Missense_Mutation_p.T135A|IFT122_uc011bkx.1_Missense_Mutation_p.T184A|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	344	WD 6.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129226602	129226602	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129226602C>G	uc003emm.2	+	23	3089	c.2883C>G	c.(2881-2883)CAC>CAG	p.H961Q	IFT122_uc003eml.2_Missense_Mutation_p.H1012Q|IFT122_uc003emn.2_Missense_Mutation_p.H902Q|IFT122_uc003emo.2_Missense_Mutation_p.H851Q|IFT122_uc003emp.2_Missense_Mutation_p.H811Q|IFT122_uc010htc.2_Missense_Mutation_p.H954Q|IFT122_uc011bky.1_Missense_Mutation_p.H752Q|IFT122_uc003emq.2_Missense_Mutation_p.H801Q|IFT122_uc003emr.2_Missense_Mutation_p.H714Q|IFT122_uc011bla.1_Missense_Mutation_p.H735Q|IFT122_uc010hte.2_Missense_Mutation_p.H287Q|IFT122_uc003ems.2_Missense_Mutation_p.H343Q|IFT122_uc011bkx.1_Missense_Mutation_p.H802Q|IFT122_uc010htd.1_Missense_Mutation_p.H440Q	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	961					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
RHO	6010	broad.mit.edu	37	3	129249874	129249874	+	Missense_Mutation	SNP	G	A	A	rs139731264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129249874G>A	uc003emt.2	+	2	612	c.517G>A	c.(517-519)GCC>ACC	p.A173T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	173	Helical; Name=4; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)													---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129279264	129279264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129279264T>C	uc003emx.2	-	31	5142	c.5042A>G	c.(5041-5043)GAC>GGC	p.D1681G	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.D349G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1681	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129304789	129304789	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129304789A>G	uc003emx.2	-							NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695921	129695921	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129695921T>C	uc003enc.2	+	3	1152	c.591T>C	c.(589-591)TGT>TGC	p.C197C		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	197					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130285978	130285978	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130285978T>C	uc010htl.2	+	4	1746	c.1715T>C	c.(1714-1716)ATC>ACC	p.I572T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	572	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130300604	130300604	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130300604A>C	uc010htl.2	+	8	3778	c.3747A>C	c.(3745-3747)AAA>AAC	p.K1249N	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1249	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311908	130311908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311908G>T	uc010htl.2	+	15	4406	c.4375G>T	c.(4375-4377)GAA>TAA	p.E1459*	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1459	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311932	130311932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311932G>A	uc010htl.2	+	15	4430	c.4399G>A	c.(4399-4401)GGA>AGA	p.G1467R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1467	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130381128	130381128	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130381128A>G	uc010htl.2	+	34	6509	c.6478A>G	c.(6478-6480)AAG>GAG	p.K2160E	COL6A6_uc003eni.3_Missense_Mutation_p.K259E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2160	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130405096	130405096	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130405096G>A	uc003enj.2	-	15	4015	c.3434C>T	c.(3433-3435)ACT>ATT	p.T1145I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1145	WD 4.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130447430	130447430	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130447430T>C	uc003enj.2	-	6	2265	c.1684A>G	c.(1684-1686)ACA>GCA	p.T562A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	562					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682809	130682809	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682809T>C	uc003enl.2	+						ATP2C1_uc011blg.1_Intron|ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enk.2_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003eno.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enq.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197			calcium-transporting ATPase 2C1 isoform 1a						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682820	130682820	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682820C>T	uc003enl.2	+	13	1127	c.905C>T	c.(904-906)GCT>GTT	p.A302V	ATP2C1_uc011blg.1_Missense_Mutation_p.A336V|ATP2C1_uc011blh.1_Missense_Mutation_p.A297V|ATP2C1_uc011bli.1_Missense_Mutation_p.A336V|ATP2C1_uc003enk.2_Missense_Mutation_p.A286V|ATP2C1_uc003enm.2_Missense_Mutation_p.A302V|ATP2C1_uc003enn.2_Missense_Mutation_p.A286V|ATP2C1_uc003eno.2_Missense_Mutation_p.A302V|ATP2C1_uc003enp.2_Missense_Mutation_p.A302V|ATP2C1_uc003enq.2_Missense_Mutation_p.A302V|ATP2C1_uc003enr.2_Missense_Mutation_p.A302V|ATP2C1_uc003ens.2_Missense_Mutation_p.A302V|ATP2C1_uc003ent.2_Missense_Mutation_p.A302V|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	302	Helical; Name=4; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743433	130743433	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131271320	131271320	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131271320C>A	uc003eok.2	-	13	1567	c.1132G>T	c.(1132-1134)GCA>TCA	p.A378S	CPNE4_uc011blq.1_Missense_Mutation_p.A396S|CPNE4_uc003eol.2_Missense_Mutation_p.A396S|CPNE4_uc003eom.2_Missense_Mutation_p.A378S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	378	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131300411	131300411	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131300411T>C	uc003eok.2	-						CPNE4_uc011blq.1_Intron|CPNE4_uc003eol.2_Intron|CPNE4_uc003eom.2_Intron	NM_130808	NP_570720			copine IV											upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132051108	132051108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132051108C>T	uc010htp.2	+	4	466	c.376C>T	c.(376-378)CCA>TCA	p.P126S	ACPP_uc003eon.3_Missense_Mutation_p.P126S|ACPP_uc003eop.3_Missense_Mutation_p.P126S	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	126						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132056293	132056293	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132056293T>A	uc010htp.2	+						ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Intron	NM_001099	NP_001090			acid phosphatase, prostate short isoform							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132068825	132068825	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132068825A>G	uc010htp.2	+	8	933	c.843A>G	c.(841-843)AAA>AAG	p.K281K	ACPP_uc003eon.3_Silent_p.K248K|ACPP_uc003eop.3_Silent_p.K281K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	281						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132202234	132202234	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132202234A>G	uc003eor.2	+	28	3060	c.2995A>G	c.(2995-2997)ACC>GCC	p.T999A		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	999							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132207831	132207831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132207831A>G	uc003eor.2	+	31	3499	c.3434A>G	c.(3433-3435)TAC>TGC	p.Y1145C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1145							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132257035	132257035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132257035G>A	uc003eor.2	+	56	6706	c.6641G>A	c.(6640-6642)GGC>GAC	p.G2214D		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2214							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
CCRL1	51554	broad.mit.edu	37	3	132319590	132319590	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132319590G>A	uc003eow.2	+	2	432	c.349G>A	c.(349-351)GCC>ACC	p.A117T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A117T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	117	Helical; Name=3; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132402349	132402349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132402349A>G	uc003epe.1	-	25	3667	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	NPHP3_uc003eoz.1_Missense_Mutation_p.V76A|NPHP3_uc003epd.1_Missense_Mutation_p.V439A	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1197	TPR 9.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132409456	132409456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132409456G>A	uc003epe.1	-	19	2686	c.2609C>T	c.(2608-2610)CCG>CTG	p.P870L	NPHP3_uc003epd.1_Missense_Mutation_p.P112L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	870					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132432040	132432040	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132432040G>A	uc003epe.1	-	6	1125	c.1048C>T	c.(1048-1050)CTC>TTC	p.L350F	NPHP3_uc003epf.1_Missense_Mutation_p.L105F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	350					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133341983	133341983	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133341983T>C	uc003eps.2	-	19	3262	c.3130A>G	c.(3130-3132)AAA>GAA	p.K1044E	TOPBP1_uc003ept.1_Missense_Mutation_p.K48E	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---
TF	7018	broad.mit.edu	37	3	133473404	133473404	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133473404C>T	uc003epu.1	+	9	2119	c.391C>T	c.(391-393)CTT>TTT	p.L131F	TF_uc011bls.1_Missense_Mutation_p.L131F|TF_uc011blt.1_Missense_Mutation_p.L4F|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L131F	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
TF	7018	broad.mit.edu	37	3	133494403	133494403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133494403C>A	uc003epu.1	+	20	3542	c.1814C>A	c.(1813-1815)GCT>GAT	p.A605D	TF_uc011blt.1_Missense_Mutation_p.A478D|TF_uc003epw.1_Missense_Mutation_p.A44D|TF_uc003epv.1_Missense_Mutation_p.A605D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	605	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133538536	133538536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133538536G>A	uc003epx.1	+	7	758	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	248		GTP; via amide nitrogen (By similarity).				endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133583486	133583486	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133583486A>C	uc003epy.2	-	2	452	c.71T>G	c.(70-72)GTC>GGC	p.V24G	RAB6B_uc011blu.1_Missense_Mutation_p.V11G	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	24	GTP.				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1																		---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134089923	134089923	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134089923G>A	uc003eqf.2	-	2	644	c.527C>T	c.(526-528)GCG>GTG	p.A176V	AMOTL2_uc003eqg.1_Missense_Mutation_p.A118V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A118V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	118										large_intestine(1)	1																		---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134277113	134277113	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134277113A>T	uc003eqo.1	+	14	2046	c.1597A>T	c.(1597-1599)ATG>TTG	p.M533L	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	533	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134323034	134323034	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134323034G>A	uc010hty.2	-	11	1435	c.1373C>T	c.(1372-1374)TCG>TTG	p.S458L	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.S437L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	458						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134338077	134338077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134338077T>C	uc010hty.2	-	8	685	c.623A>G	c.(622-624)GAC>GGC	p.D208G	KY_uc011blw.1_Missense_Mutation_p.D208G|KY_uc011blx.1_Missense_Mutation_p.D187G|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	208						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135720924	135720924	+	Missense_Mutation	SNP	C	T	T	rs138854105		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135720924C>T	uc003eqv.1	+	2	1149	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	195					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721357	135721357	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135721357G>A	uc003eqv.1	+	2	1582	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	339					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135870699	135870699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135870699G>A	uc003eqx.1	-	2	1757	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	MSL2_uc011bmb.1_Nonsense_Mutation_p.R268*	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	342					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136152490	136152490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136152490G>A	uc003era.1	-	16	1850	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	STAG1_uc003erb.1_Missense_Mutation_p.R520C|STAG1_uc003erc.1_Missense_Mutation_p.R294C|STAG1_uc010hua.1_Missense_Mutation_p.R383C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	520					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136323179	136323179	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136323179A>G	uc003era.1	-	4	561	c.269T>C	c.(268-270)GTG>GCG	p.V90A	STAG1_uc003erb.1_Missense_Mutation_p.V90A|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.V90A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	90					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136665098	136665098	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136665098A>G	uc003erh.2	+	3	1007	c.900A>G	c.(898-900)GGA>GGG	p.G300G	NCK1_uc011bme.1_Silent_p.G236G	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	300	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1																		---	---	---	---
IL20RB	53833	broad.mit.edu	37	3	136699431	136699431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136699431A>G	uc003eri.1	+	2	461	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	71	Fibronectin type-III 1.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1																		---	---	---	---
CLDN18	51208	broad.mit.edu	37	3	137749876	137749876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137749876G>A	uc003ero.1	+	5	732	c.679G>A	c.(679-681)GCC>ACC	p.A227T	CLDN18_uc003erp.1_Missense_Mutation_p.A227T|CLDN18_uc010hue.1_Missense_Mutation_p.A183T	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	227	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137991841	137991841	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137991841A>G	uc003esa.1	+	18	1837	c.1470A>G	c.(1468-1470)AAA>AAG	p.K490K	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.K473K|ARMC8_uc011bmg.1_Silent_p.K437K|ARMC8_uc011bmh.1_Silent_p.K431K|ARMC8_uc003esb.1_Silent_p.K462K|ARMC8_uc003esc.1_Silent_p.K262K|ARMC8_uc003esf.1_Silent_p.K73K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	504	ARM 11.						binding				0																		---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138117299	138117299	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138117299T>C	uc003esh.3	+						MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Intron|MRAS_uc011bmj.1_Intron	NM_012219	NP_036351			muscle RAS oncogene homolog precursor						actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138183274	138183274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138183274G>A	uc003esk.2	+	9	1229	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	335	C2 1.					integral to membrane|plasma membrane					0																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138191352	138191352	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138191352C>T	uc003esk.2	+	18	2114	c.1888C>T	c.(1888-1890)CCC>TCC	p.P630S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	630						integral to membrane|plasma membrane					0																		---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138224301	138224301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138224301A>G	uc003esl.2	-	13	1255	c.1057T>C	c.(1057-1059)TGT>CGT	p.C353R	CEP70_uc011bmk.1_Missense_Mutation_p.C333R|CEP70_uc011bml.1_Missense_Mutation_p.C335R|CEP70_uc011bmm.1_Missense_Mutation_p.C201R|CEP70_uc003esm.2_Missense_Mutation_p.C353R	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	353					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138383975	138383975	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138383975T>C	uc011bmq.1	-	18	2575	c.2575A>G	c.(2575-2577)ACA>GCA	p.T859A	PIK3CB_uc011bmn.1_Missense_Mutation_p.T371A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T310A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T446A	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	859	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138409870	138409870	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138409870T>A	uc011bmq.1	-	13	2008	c.2008A>T	c.(2008-2010)ATA>TTA	p.I670L	PIK3CB_uc011bmn.1_Missense_Mutation_p.I182L|PIK3CB_uc011bmo.1_Missense_Mutation_p.I116L|PIK3CB_uc011bmp.1_Missense_Mutation_p.I257L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	670	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138453548	138453548	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138453548T>G	uc011bmq.1	-	5	900	c.900A>C	c.(898-900)ATA>ATC	p.I300I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	300					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138461549	138461549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138461549C>T	uc011bmq.1	-	3	472	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	158					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
C3orf72	401089	broad.mit.edu	37	3	138669110	138669110	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138669110C>T	uc003esx.1	+	3	355	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	75											0																		---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163724	141163724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163724A>G	uc003etw.2	+	8	3476	c.2494A>G	c.(2494-2496)AAT>GAT	p.N832D	ZBTB38_uc010hun.2_Missense_Mutation_p.N829D|ZBTB38_uc010huo.2_Missense_Mutation_p.N832D|ZBTB38_uc003ety.2_Missense_Mutation_p.N832D|ZBTB38_uc010hup.2_Missense_Mutation_p.N833D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	832					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141277721	141277721	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141277721T>C	uc003etz.1	+						RASA2_uc010huq.1_Intron|RASA2_uc003eua.1_Intron|RASA2_uc011bnc.1_Intron	NM_006506	NP_006497			RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141497221	141497221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141497221G>A	uc011bnd.1	+	1	179	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141671866	141671866	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141671866A>G	uc003eun.3	-						TFDP2_uc003euk.3_Intron|TFDP2_uc010hur.2_Intron|TFDP2_uc003eul.3_Intron|TFDP2_uc011bnf.1_Intron|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_Intron	NM_006286	NP_006277			transcription factor Dp-2 (E2F dimerization						cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141678643	141678643	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141678643G>C	uc003eun.3	-	11	1303	c.924C>G	c.(922-924)ATC>ATG	p.I308M	TFDP2_uc003euk.3_Missense_Mutation_p.I221M|TFDP2_uc010hur.2_Missense_Mutation_p.I248M|TFDP2_uc003eul.3_Missense_Mutation_p.I248M|TFDP2_uc011bnf.1_Missense_Mutation_p.I211M|TFDP2_uc011bng.1_Missense_Mutation_p.I172M|TFDP2_uc003eum.3_Missense_Mutation_p.I248M	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	308	DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142037739	142037739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142037739T>C	uc003eus.2	-	38	4475	c.4408A>G	c.(4408-4410)ACC>GCC	p.T1470A	XRN1_uc010huu.2_Missense_Mutation_p.T937A|XRN1_uc003eut.2_Missense_Mutation_p.T1470A|XRN1_uc003euu.2_Missense_Mutation_p.T1471A	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1470					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ATR	545	broad.mit.edu	37	3	142186802	142186802	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142186802T>C	uc003eux.3	-	39	6783	c.6661A>G	c.(6661-6663)AAG>GAG	p.K2221E	ATR_uc003euy.1_Missense_Mutation_p.K107E	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2221					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
ATR	545	broad.mit.edu	37	3	142242991	142242991	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142242991G>T	uc003eux.3	-	22	4118	c.3996C>A	c.(3994-3996)ATC>ATA	p.I1332I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1332	HEAT 2.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840751	142840751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142840751C>T	uc003evm.2	+	2	1982	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	365	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142841186	142841186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142841186C>T	uc003evm.2	+	2	2417	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	510	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143185920	143185920	+	Silent	SNP	A	G	G	rs61734421	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143185920A>G	uc003evn.2	-	12	1610	c.1428T>C	c.(1426-1428)TTT>TTC	p.F476F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	476	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143513844	143513844	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143513844C>A	uc003evn.2	-	4	714	c.532G>T	c.(532-534)GGG>TGG	p.G178W	SLC9A9_uc011bnk.1_Missense_Mutation_p.G52W	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	178	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145824343	145824343	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145824343T>G	uc003evs.1	-	5	1097	c.591A>C	c.(589-591)AAA>AAC	p.K197N	PLOD2_uc011bnm.1_Missense_Mutation_p.K142N|PLOD2_uc003evr.1_Missense_Mutation_p.K197N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	197					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146234850	146234850	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146234850G>A	uc003evx.3	-	8	1231	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLSCR1_uc003evy.3_Silent_p.F274F|PLSCR1_uc011bnn.1_Silent_p.F200F|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	281	Cytoplasmic.			F->A: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling.	phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128883	147128883	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147128883T>C	uc003ewe.2	+	1	1701	c.982_splice	c.e1+2	p.G328_splice		NM_003412	NP_003403			zinc finger protein of the cerebellum 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148750057	148750057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148750057C>T	uc003ewq.1	-	25	3198	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K	HLTF_uc003ewr.1_Missense_Mutation_p.E994K|HLTF_uc003ews.1_Missense_Mutation_p.E993K|HLTF_uc010hve.1_Missense_Mutation_p.E993K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	994	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148766639	148766639	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148766639G>A	uc003ewq.1	-						HLTF_uc003ewr.1_Intron|HLTF_uc003ews.1_Intron|HLTF_uc010hve.1_Intron	NM_139048	NP_620636			helicase-like transcription factor						chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
CP	1356	broad.mit.edu	37	3	148894077	148894077	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148894077A>G	uc003ewy.3	-	18	3394	c.3141T>C	c.(3139-3141)CAT>CAC	p.H1047H	CP_uc011bnr.1_Intron|CP_uc003eww.3_3'UTR|CP_uc003ewx.3_Silent_p.H828H	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	1047	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
CP	1356	broad.mit.edu	37	3	148896212	148896212	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148896212A>T	uc003ewy.3	-	16	3121	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.N108K|CP_uc003ewx.3_Missense_Mutation_p.N737K|CP_uc003ewz.2_Missense_Mutation_p.N956K	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	956	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
TM4SF18	116441	broad.mit.edu	37	3	149051032	149051032	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149051032G>A	uc003exa.2	-	2	275	c.138C>T	c.(136-138)TAC>TAT	p.Y46Y		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	46	Extracellular (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149374675	149374675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149374675C>A	uc003exe.2	-	1	435	c.419G>T	c.(418-420)AGG>ATG	p.R140M	WWTR1_uc003exf.2_Missense_Mutation_p.R140M|WWTR1_uc011bns.1_Missense_Mutation_p.R140M|WWTR1_uc003exh.2_Missense_Mutation_p.R140M|uc010hvg.1_5'Flank|uc003exi.1_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	140	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149468597	149468597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149468597T>C	uc003exk.2	-	4	317	c.270A>G	c.(268-270)GGA>GGG	p.G90G		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	90							protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
RNF13	11342	broad.mit.edu	37	3	149678562	149678562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149678562A>G	uc003exn.3	+	11	1601	c.817A>G	c.(817-819)AAA>GAA	p.K273E	RNF13_uc003exp.3_Missense_Mutation_p.K273E|RNF13_uc010hvh.2_Missense_Mutation_p.K154E	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	273	Cytoplasmic (Potential).|RING-type; atypical.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149686261	149686261	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149686261T>C	uc003ext.1	-	2	307	c.209A>G	c.(208-210)AAA>AGA	p.K70R	PFN2_uc003exs.1_Missense_Mutation_p.K21R|PFN2_uc003exu.1_Missense_Mutation_p.K70R|PFN2_uc011bnu.1_Missense_Mutation_p.K70R	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	70					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150282089	150282089	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150282089T>G	uc003eya.2	+	6	412	c.396T>G	c.(394-396)TGT>TGG	p.C132W	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.C5W|EIF2A_uc003eyc.2_Missense_Mutation_p.C5W|EIF2A_uc011bnv.1_Missense_Mutation_p.C107W|EIF2A_uc011bnw.1_Intron|EIF2A_uc003eyd.2_5'UTR	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	132	WD 2.				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150460021	150460021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150460021G>A	uc003eyi.2	-	2	1509	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150845683	150845683	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150845683A>G	uc003eyp.2	+	4	506	c.468A>G	c.(466-468)GCA>GCG	p.A156A	MED12L_uc011bnz.1_Silent_p.A156A|MED12L_uc003eym.1_Silent_p.A156A|MED12L_uc003eyn.2_Silent_p.A156A|MED12L_uc003eyo.2_Silent_p.A156A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150874007	150874007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150874007T>C	uc003eyp.2	+	5	654	c.616T>C	c.(616-618)TAC>CAC	p.Y206H	MED12L_uc011bnz.1_Missense_Mutation_p.Y206H|MED12L_uc003eym.1_Missense_Mutation_p.Y206H|MED12L_uc003eyn.2_Missense_Mutation_p.Y206H|MED12L_uc003eyo.2_Missense_Mutation_p.Y206H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	206					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150881670	150881670	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150881670T>C	uc003eyp.2	+						MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Intron|MED12L_uc003eyo.2_Intron	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012189	151012189	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012189C>A	uc003eyt.2	-	3	1206	c.845G>T	c.(844-846)AGG>ATG	p.R282M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	282	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012373	151012373	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012373T>C	uc003eyt.2	-	3	1022	c.661A>G	c.(661-663)ATT>GTT	p.I221V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	221	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046686	151046686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151046686A>G	uc003eyv.2	-	2	179	c.158T>C	c.(157-159)GTG>GCG	p.V53A	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	53	Helical; Name=1; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)															---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055700	151055700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055700T>C	uc003eyw.1	-	2	1150	c.934A>G	c.(934-936)ATG>GTG	p.M312V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.M312V	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	312	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055985	151055985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055985A>G	uc003eyw.1	-	2	865	c.649T>C	c.(649-651)TAC>CAC	p.Y217H	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.Y217H	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	217	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151085503	151085503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151085503T>C	uc003eyp.2	+	22	3330	c.3292T>C	c.(3292-3294)TCC>CCC	p.S1098P	MED12L_uc011bnz.1_Missense_Mutation_p.S958P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S261P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1098					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151102876	151102876	+	Missense_Mutation	SNP	T	C	C	rs61740424		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151102876T>C	uc003eyp.2	+	34	4918	c.4880T>C	c.(4879-4881)TTG>TCG	p.L1627S	MED12L_uc011bnz.1_Missense_Mutation_p.L1487S|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.L790S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1627					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151129193	151129193	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151129193A>G	uc003eyp.2	+	39	5971	c.5933A>G	c.(5932-5934)AAC>AGC	p.N1978S	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1978	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161304	151161304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151161304T>C	uc011bod.1	-	5	5431	c.5431A>G	c.(5431-5433)AGT>GGT	p.S1811G	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1811	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164151	151164151	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164151T>A	uc011bod.1	-	4	3618	c.3618A>T	c.(3616-3618)CAA>CAT	p.Q1206H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1206					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458527	151458527	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458527T>A	uc003ezc.2	+	2	352	c.232T>A	c.(232-234)TAC>AAC	p.Y78N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	78						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458575	151458575	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458575T>A	uc003ezc.2	+	2	400	c.280T>A	c.(280-282)TAC>AAC	p.Y94N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	94						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151474982	151474982	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151474982A>C	uc003ezc.2	+	5	926	c.806A>C	c.(805-807)CAC>CCC	p.H269P	AADACL2_uc010hvn.2_Missense_Mutation_p.H56P	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	269						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
SUCNR1	56670	broad.mit.edu	37	3	151598454	151598454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151598454T>A	uc003ezf.1	+	3	222	c.123T>A	c.(121-123)AAT>AAA	p.N41K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)													---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152554074	152554074	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152554074C>T	uc003ezq.2	+	1	1339	c.503C>T	c.(502-504)GCG>GTG	p.A168V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	168	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)															---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153840495	153840495	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153840495C>G	uc011bog.1	+	2	925	c.714C>G	c.(712-714)AAC>AAG	p.N238K	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.N238K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	238					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154007584	154007584	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154007584T>G	uc003ezy.3	-	16	1927	c.1846A>C	c.(1846-1848)AAT>CAT	p.N616H	DHX36_uc010hvq.2_Missense_Mutation_p.N602H|DHX36_uc003ezz.3_Missense_Mutation_p.N616H	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	616	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154033048	154033048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154033048A>G	uc003ezy.3	-	3	471	c.390T>C	c.(388-390)ACT>ACC	p.T130T	DHX36_uc010hvq.2_Silent_p.T130T|DHX36_uc003ezz.3_Silent_p.T130T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	130	Potential.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154146892	154146892	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154146892G>T	uc003faa.2	-	1	613	c.513C>A	c.(511-513)GGC>GGA	p.G171G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
MME	4311	broad.mit.edu	37	3	154834710	154834710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154834710A>G	uc010hvr.1	+	7	800	c.589A>G	c.(589-591)AAA>GAA	p.K197E	MME_uc003fab.1_Missense_Mutation_p.K197E|MME_uc003fac.1_Missense_Mutation_p.K197E|MME_uc003fad.1_Missense_Mutation_p.K197E|MME_uc003fae.1_Missense_Mutation_p.K197E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	197	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155210593	155210593	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155210593C>T	uc011bok.1	-	17	2473	c.2196G>A	c.(2194-2196)AAG>AAA	p.K732K	PLCH1_uc011boj.1_Silent_p.K732K|PLCH1_uc011bol.1_Silent_p.K714K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	732	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232571	155232571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232571A>G	uc011bok.1	-	11	1814	c.1537T>C	c.(1537-1539)TTC>CTC	p.F513L	PLCH1_uc011boj.1_Missense_Mutation_p.F513L|PLCH1_uc011bol.1_Missense_Mutation_p.F495L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	513					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232581	155232581	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232581A>T	uc011bok.1	-	11	1804	c.1527T>A	c.(1525-1527)GAT>GAA	p.D509E	PLCH1_uc011boj.1_Missense_Mutation_p.D509E|PLCH1_uc011bol.1_Missense_Mutation_p.D491E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	509					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155314063	155314063	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155314063G>A	uc011bok.1	-	2	425	c.148C>T	c.(148-150)CGC>TGC	p.R50C	PLCH1_uc011boj.1_Missense_Mutation_p.R50C|PLCH1_uc011bol.1_Missense_Mutation_p.R32C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	50	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155551721	155551721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155551721A>G	uc003fan.3	-	3	1454	c.1073T>C	c.(1072-1074)ATA>ACA	p.I358T	SLC33A1_uc003fao.1_Missense_Mutation_p.I358T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	358	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155571069	155571069	+	Missense_Mutation	SNP	A	G	G	rs145201278		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155571069A>G	uc003fan.3	-	1	1099	c.718T>C	c.(718-720)TTT>CTT	p.F240L	SLC33A1_uc003fao.1_Missense_Mutation_p.F240L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	240	Extracellular (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
GMPS	8833	broad.mit.edu	37	3	155624029	155624029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155624029C>T	uc003faq.2	+	5	838	c.503C>T	c.(502-504)GCA>GTA	p.A168V	GMPS_uc011bom.1_Missense_Mutation_p.A69V	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	168	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			T	MLL	AML								---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156139398	156139398	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156139398A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156170729	156170729	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156170729A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156241671	156241671	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156241671A>C	uc003far.2	+	12	1080	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	KCNAB1_uc011bon.1_Missense_Mutation_p.N310T|KCNAB1_uc003fas.2_Missense_Mutation_p.N328T|KCNAB1_uc003fat.2_Missense_Mutation_p.N321T|KCNAB1_uc010hvt.1_Missense_Mutation_p.N292T|KCNAB1_uc011boo.1_Missense_Mutation_p.N215T	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	339						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	156979019	156979019	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156979019C>A	uc003fbj.1	-	14	2723	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	VEPH1_uc003fbk.1_Missense_Mutation_p.K802N|VEPH1_uc010hvu.1_Missense_Mutation_p.K757N	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	802	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157031509	157031509	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157031509A>G	uc003fbj.1	-	11	2228	c.1911T>C	c.(1909-1911)CAT>CAC	p.H637H	VEPH1_uc003fbk.1_Silent_p.H637H|VEPH1_uc010hvu.1_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	637						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158366884	158366884	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158366884T>A	uc003fce.2	+	5	734	c.627T>A	c.(625-627)GGT>GGA	p.G209G	GFM1_uc003fcd.2_Silent_p.G209G|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.G121G	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	209					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158369951	158369951	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158369951G>A	uc003fce.2	+	6	863	c.756G>A	c.(754-756)GAG>GAA	p.E252E	GFM1_uc003fcd.2_Silent_p.E252E|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.E183E	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	252					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158408121	158408121	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158408121T>A	uc003fce.2	+						GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron	NM_024996	NP_079272			G elongation factor, mitochondrial 1 precursor						mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160099392	160099392	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160099392A>G	uc011boy.1	-	3	591	c.158T>C	c.(157-159)CTT>CCT	p.L53P	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	53						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160122366	160122366	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160122366T>A	uc003fdh.2	+						IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Intron|SMC4_uc003fdg.1_Intron|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Intron|SMC4_uc010hwd.2_Intron|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800			SMC4 structural maintenance of chromosomes						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160146611	160146611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160146611A>G	uc003fdh.2	+	18	2789	c.2676A>G	c.(2674-2676)GTA>GTG	p.V892V	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.V867V|SMC4_uc003fdj.2_Silent_p.V892V|SMC4_uc010hwd.2_Silent_p.V892V|SMC4_uc003fdl.2_Silent_p.V595V	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	892	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160155817	160155817	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160155817T>C	uc003fdm.2	-	3	1350	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	IFT80_uc003fda.2_Intron	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	385						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160951189	160951189	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160951189A>G	uc003feb.1	+	5	398	c.279A>G	c.(277-279)GTA>GTG	p.V93V	NMD3_uc003fec.2_Silent_p.V93V|NMD3_uc003fed.1_Silent_p.V93V|NMD3_uc010hwh.2_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	93					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
Unknown	0	broad.mit.edu	37	3	161146942	161146942	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:161146942A>G								C3orf57 (57071 upstream) : OTOL1 (67654 downstream)																																			---	---	---	---
SI	6476	broad.mit.edu	37	3	164750471	164750471	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164750471C>G	uc003fei.2	-	24	2637	c.2575G>C	c.(2575-2577)GAT>CAT	p.D859H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	859	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164764647	164764647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164764647A>G	uc003fei.2	-	16	1931	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	623	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164772976	164772976	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164772976A>G	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906123	164906123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906123C>T	uc003fej.3	-	2	2940	c.2496G>A	c.(2494-2496)ACG>ACA	p.T832T	SLITRK3_uc003fek.2_Silent_p.T832T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	832	Cytoplasmic (Potential).					integral to membrane		p.T832M(1)		ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547744	165547744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165547744A>G	uc003fem.3	-	2	1238	c.1078T>C	c.(1078-1080)TAT>CAT	p.Y360H	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	360					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189553	167189553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189553G>A	uc003fer.1	-	1	128	c.70C>T	c.(70-72)CAA>TAA	p.Q24*	SERPINI2_uc003fes.1_Nonsense_Mutation_p.Q34*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q24*	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	24					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167422672	167422672	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167422672T>A	uc003fex.2	-	4	506	c.108A>T	c.(106-108)GTA>GTT	p.V36V	PDCD10_uc003fez.2_Silent_p.V36V|PDCD10_uc003fey.2_Silent_p.V36V	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	36					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833263	168833263	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168833263T>C	uc003ffi.3	-	7	2102	c.1833A>G	c.(1831-1833)GGA>GGG	p.G611G	MECOM_uc010hwk.1_Silent_p.G634G|MECOM_uc003ffj.3_Silent_p.G676G|MECOM_uc011bpi.1_Silent_p.G612G|MECOM_uc003ffn.3_Silent_p.G611G|MECOM_uc003ffk.2_Silent_p.G611G|MECOM_uc003ffl.2_Silent_p.G771G|MECOM_uc011bpj.1_Silent_p.G799G|MECOM_uc011bpk.1_Silent_p.G601G|MECOM_uc010hwn.2_Silent_p.G799G	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	611					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168864280	168864280	+	5'Flank	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168864280C>T	uc003ffi.3	-						MECOM_uc003ffj.3_5'Flank|MECOM_uc011bpi.1_5'Flank|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_5'Flank	NM_005241	NP_005232			MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	169099286	169099286	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169099286G>A	uc011bpj.1	-	2	467	c.64C>T	c.(64-66)CCT>TCT	p.P22S	MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P22S|MECOM_uc011bpl.1_Missense_Mutation_p.P22S	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R22C(1)		lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169497203	169497203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169497203A>G	uc003fft.2	+	3	1343	c.914A>G	c.(913-915)AAC>AGC	p.N305S	MYNN_uc011bpm.1_Missense_Mutation_p.N191S|MYNN_uc003ffu.2_Missense_Mutation_p.N305S|MYNN_uc003ffv.2_Missense_Mutation_p.N32S|MYNN_uc010hwo.2_Missense_Mutation_p.N305S|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	305	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169574164T>A	uc003fgc.1	-	5	860	c.783A>T	c.(781-783)TTA>TTT	p.L261F	LRRC31_uc010hwp.1_Missense_Mutation_p.L205F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261	LRR 2.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169801907	169801907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169801907C>T	uc003fgi.2	+	4	737	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPR160_uc010hwq.2_Silent_p.N49N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169802241	169802241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169802241T>C	uc003fgi.2	+	4	1071	c.481T>C	c.(481-483)TAC>CAC	p.Y161H	GPR160_uc010hwq.2_Missense_Mutation_p.Y161H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	161	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169831155	169831155	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169831155A>G	uc010hws.1	-	11	2374	c.2310T>C	c.(2308-2310)ATT>ATC	p.I770I	PHC3_uc003fgl.2_Silent_p.I782I|PHC3_uc011bpq.1_Silent_p.I729I	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	770					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	169953064	169953064	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169953064C>A	uc003fgs.2	+	2	386	c.148C>A	c.(148-150)CTT>ATT	p.L50I		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	50	Regulatory domain.|OPR.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170219127	170219127	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170219127G>T	uc003fgz.2	-	3	628	c.312C>A	c.(310-312)TGC>TGA	p.C104*	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	104						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170244439	170244439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170244439A>T	uc003fgz.2	-	2	603	c.287T>A	c.(286-288)GTC>GAC	p.V96D	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	96	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170885049	170885049	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170885049A>T	uc003fhh.2	-	10	1129	c.784T>A	c.(784-786)TTC>ATC	p.F262I	TNIK_uc003fhi.2_Missense_Mutation_p.F262I|TNIK_uc003fhj.2_Missense_Mutation_p.F262I|TNIK_uc003fhk.2_Missense_Mutation_p.F262I|TNIK_uc003fhl.2_Missense_Mutation_p.F262I|TNIK_uc003fhm.2_Missense_Mutation_p.F262I|TNIK_uc003fhn.2_Missense_Mutation_p.F262I|TNIK_uc003fho.2_Missense_Mutation_p.F262I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	262	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170945964	170945964	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170945964T>A	uc003fhh.2	-	3	515	c.170A>T	c.(169-171)GAT>GTT	p.D57V	TNIK_uc003fhi.2_Missense_Mutation_p.D57V|TNIK_uc003fhj.2_Missense_Mutation_p.D57V|TNIK_uc003fhk.2_Missense_Mutation_p.D57V|TNIK_uc003fhl.2_Missense_Mutation_p.D57V|TNIK_uc003fhm.2_Missense_Mutation_p.D57V|TNIK_uc003fhn.2_Missense_Mutation_p.D57V|TNIK_uc003fho.2_Missense_Mutation_p.D57V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	57	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171455832	171455832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171455832T>C	uc003fhs.2	-	2	126	c.10A>G	c.(10-12)AAA>GAA	p.K4E	PLD1_uc003fht.2_Missense_Mutation_p.K4E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	4					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172055197	172055197	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172055197G>T	uc003fhy.2	+						FNDC3B_uc003fhz.3_Intron|FNDC3B_uc003fia.2_Missense_Mutation_p.V551F	NM_022763	NP_073600			fibronectin type III domain containing 3B							endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165751	172165751	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172165751G>A	uc003fib.1	-	1	453	c.453C>T	c.(451-453)GCC>GCT	p.A151A	GHSR_uc011bpv.1_Silent_p.A151A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	151	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172473166	172473166	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172473166T>C	uc003fii.2	+	3	348	c.210_splice	c.e3+2	p.K70_splice	ECT2_uc010hwv.1_Splice_Site_p.K70_splice|ECT2_uc003fih.2_Splice_Site_p.K69_splice|ECT2_uc003fij.1_Splice_Site_p.K70_splice|ECT2_uc003fik.1_Splice_Site_p.K70_splice|ECT2_uc003fil.1_Splice_Site_p.K70_splice	NM_018098	NP_060568			epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172482158	172482158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172482158C>T	uc003fii.2	+	11	1204	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	ECT2_uc010hwv.1_Missense_Mutation_p.L387F|ECT2_uc003fih.2_Missense_Mutation_p.L355F|ECT2_uc003fij.1_Missense_Mutation_p.L356F|ECT2_uc003fik.1_Missense_Mutation_p.L356F|ECT2_uc003fil.1_Missense_Mutation_p.L387F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	356					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172607409C>T	uc003fin.3	-	11	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)															---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173999064	173999064	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173999064C>T	uc003fio.1	+	7	2866	c.2443C>T	c.(2443-2445)CCC>TCC	p.P815S	NLGN1_uc003fip.1_Missense_Mutation_p.P815S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	832	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178748682	178748682	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178748682G>T	uc003fjg.2	-	3	635	c.376C>A	c.(376-378)CCA>ACA	p.P126T	ZMAT3_uc010hxa.2_Missense_Mutation_p.P126T|ZMAT3_uc003fji.2_Missense_Mutation_p.P126T	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	126					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)															---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178917660	178917660	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178917660A>G	uc003fjk.2	+	3	692	c.535A>G	c.(535-537)AAG>GAG	p.K179E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	179	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K179T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921493	178921493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178921493A>G	uc003fjk.2	+	5	1132	c.975A>G	c.(973-975)AAA>AAG	p.K325K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	325					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178927472	178927472	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178927472G>A	uc003fjk.2	+	7	1392	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	412	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936097	178936097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178936097G>A	uc003fjk.2	+	10	1796	c.1639G>A	c.(1639-1641)GAG>AAG	p.E547K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	547	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E547K(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	G	G	rs121913279		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179052007	179052007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179052007T>C	uc003fjq.1	+	6	1598	c.1255T>C	c.(1255-1257)TGC>CGC	p.C419R	ZNF639_uc003fjr.1_Missense_Mutation_p.C419R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	419	Interaction with CTNNA2.|C2H2-type 6.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179093044	179093044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179093044G>A	uc003fjs.2	+	10	1138	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E366K|MFN1_uc010hxc.2_Missense_Mutation_p.E191K	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	338	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179095217	179095217	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179095217T>C	uc003fjs.2	+	12	1436	c.1310T>C	c.(1309-1311)GTA>GCA	p.V437A	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V465A|MFN1_uc010hxc.2_Missense_Mutation_p.V290A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	437	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179104341	179104341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179104341T>C	uc003fjs.2	+	16	2062	c.1936T>C	c.(1936-1938)TTT>CTT	p.F646L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F674L|MFN1_uc010hxc.2_Missense_Mutation_p.F388L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	646	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292257	179292257	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179292257T>C	uc003fjw.2	+	5	649	c.476_splice	c.e5+2	p.A159_splice	ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice	NM_004301	NP_004292			actin-like 6A isoform 1						chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179294685	179294685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179294685A>G	uc003fjw.2	+	8	925	c.752A>G	c.(751-753)CAC>CGC	p.H251R	ACTL6A_uc003fjx.2_Missense_Mutation_p.H209R|ACTL6A_uc003fjy.2_Missense_Mutation_p.H209R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	251					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179310501	179310501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179310501G>A	uc003fjz.2	-	6	582	c.560C>T	c.(559-561)CCT>CTT	p.P187L	MRPL47_uc003fka.2_Missense_Mutation_p.P77L|MRPL47_uc003fkb.2_Missense_Mutation_p.P167L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	187					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180322027A>C	uc003fkk.2	+	4	633	c.501A>C	c.(499-501)TTA>TTC	p.L167F	TTC14_uc003fkl.2_Missense_Mutation_p.L167F|TTC14_uc003fkm.2_Missense_Mutation_p.L167F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	167	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327713	180327713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180327713T>C	uc003fkk.2	+	12	1828	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.Y566H	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	566							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180364906	180364906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180364906A>G	uc010hxe.2	-	11	1603	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	496	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666128	180666128	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180666128C>A	uc003fkq.2	+						FXR1_uc003fkp.2_Intron|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Intron|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Intron	NM_005087	NP_005078			fragile X mental retardation-related protein 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180686004	180686004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180686004G>A	uc003fkq.2	+	14	1386	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	FXR1_uc003fkp.2_Missense_Mutation_p.R370H|FXR1_uc003fkr.2_Missense_Mutation_p.R455H|FXR1_uc011bqj.1_Missense_Mutation_p.R369H|FXR1_uc003fks.2_Missense_Mutation_p.R398H|FXR1_uc011bqk.1_Missense_Mutation_p.R406H|FXR1_uc011bql.1_Missense_Mutation_p.R442H	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	455	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
DNAJC19	131118	broad.mit.edu	37	3	180703789	180703789	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180703789T>C	uc003fkt.2	-						DNAJC19_uc003fku.2_Intron	NM_145261	NP_660304			DnaJ homolog, subfamily C, member 19						genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182598714	182598714	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182598714T>A	uc003flb.2	+	21	2711	c.2454T>A	c.(2452-2454)GCT>GCA	p.A818A	ATP11B_uc003flc.2_Silent_p.A402A|ATP11B_uc011bqm.1_Silent_p.A122A|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	818	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182605474	182605474	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182605474T>C	uc003flb.2	+	24	3073	c.2816T>C	c.(2815-2817)GTG>GCG	p.V939A	ATP11B_uc003flc.2_Missense_Mutation_p.V523A|ATP11B_uc011bqm.1_Silent_p.C219C|ATP11B_uc010hxf.1_Missense_Mutation_p.V101A	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	939	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183013131	183013131	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183013131T>C	uc003fli.1	-	13	1722	c.1632A>G	c.(1630-1632)TCA>TCG	p.S544S	MCF2L2_uc003flj.1_Silent_p.S544S|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	544					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183209848	183209848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183209848C>T	uc003flr.2	-	7	1791	c.1733G>A	c.(1732-1734)TGC>TAC	p.C578Y	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	578	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183368392	183368392	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183368392T>C	uc003flv.2	+	3	543	c.248T>C	c.(247-249)GTG>GCG	p.V83A	KLHL24_uc003flw.2_Missense_Mutation_p.V83A|KLHL24_uc003flx.2_Missense_Mutation_p.V83A	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	83	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183390214	183390214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183390214A>G	uc003flv.2	+	7	1839	c.1544A>G	c.(1543-1545)TAC>TGC	p.Y515C	KLHL24_uc003flw.2_Missense_Mutation_p.Y515C|KLHL24_uc003flx.2_Missense_Mutation_p.Y515C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	515	Kelch 5.			Y -> C (in Ref. 3; BAB15447).		axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183435470	183435470	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183435470T>C	uc003fly.2	+	3	327	c.132T>C	c.(130-132)ACT>ACC	p.T44T		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	44					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183479352	183479352	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183479352A>G	uc003fly.2	+	14	1909	c.1714A>G	c.(1714-1716)AAG>GAG	p.K572E		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183660562	183660562	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183660562G>A	uc003fmg.2	-	25	3812	c.3647C>T	c.(3646-3648)ACG>ATG	p.T1216M	ABCC5_uc011bqt.1_Missense_Mutation_p.T744M|ABCC5_uc010hxl.2_Missense_Mutation_p.T1173M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1216	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183663738	183663738	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183663738A>C	uc003fmg.2	-						ABCC5_uc011bqt.1_Intron|ABCC5_uc010hxl.2_Intron	NM_005688	NP_005679			ATP-binding cassette, sub-family C, member 5							integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700588	183700588	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183700588T>A	uc003fmg.2	-	6	964	c.799A>T	c.(799-801)AAC>TAC	p.N267Y	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.N267Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	267	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183854437	183854437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183854437A>G	uc003fmp.2	+	2	597	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	EIF2B5_uc010hxs.2_Missense_Mutation_p.Y78C|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	78					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183911336	183911336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183911336G>A	uc003fmz.2	+	21	2113	c.1980G>A	c.(1978-1980)GTG>GTA	p.V660V	ABCF3_uc003fna.2_Silent_p.V654V|ABCF3_uc003fnb.2_Silent_p.V341V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	660	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183976238	183976238	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183976238G>A	uc003fni.3	+						ECE2_uc003fnh.3_Missense_Mutation_p.G215R	NM_014693	NP_055508			endothelin converting enzyme 2 isoform A						brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184025236	184025236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184025236C>T	uc003fnn.1	+	17	2159	c.2126C>T	c.(2125-2127)ACC>ATC	p.T709I	PSMD2_uc011brj.1_Missense_Mutation_p.T550I|PSMD2_uc011brk.1_Missense_Mutation_p.T579I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	709	PC 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046703	184046703	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184046703T>A	uc003fnp.2	+	28	4284	c.4086T>A	c.(4084-4086)ATT>ATA	p.I1362I	EIF4G1_uc003fnt.2_Silent_p.I1073I|EIF4G1_uc003fnq.2_Silent_p.I1275I|EIF4G1_uc003fnr.2_Silent_p.I1198I|EIF4G1_uc010hxx.2_Silent_p.I1369I|EIF4G1_uc003fns.2_Silent_p.I1322I|EIF4G1_uc010hxy.2_Silent_p.I1369I|EIF4G1_uc003fnv.3_Silent_p.I1363I|EIF4G1_uc003fnu.3_Silent_p.I1362I|EIF4G1_uc003fnw.2_Silent_p.I1369I|EIF4G1_uc003fnx.2_Silent_p.I1167I|EIF4G1_uc003fny.3_Silent_p.I1166I|EIF4G1_uc003foa.2_Silent_p.I34I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1362	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184049520	184049520	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184049520A>T	uc003fnp.2	+	31	4598	c.4400A>T	c.(4399-4401)AAC>ATC	p.N1467I	EIF4G1_uc003fnt.2_Missense_Mutation_p.N1178I|EIF4G1_uc003fnq.2_Missense_Mutation_p.N1380I|EIF4G1_uc003fnr.2_Missense_Mutation_p.N1303I|EIF4G1_uc010hxx.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fns.2_Missense_Mutation_p.N1427I|EIF4G1_uc010hxy.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnv.3_Missense_Mutation_p.N1468I|EIF4G1_uc003fnu.3_Missense_Mutation_p.N1467I|EIF4G1_uc003fnw.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnx.2_Missense_Mutation_p.N1272I|EIF4G1_uc003fny.3_Missense_Mutation_p.N1271I|EIF4G1_uc003foa.2_Missense_Mutation_p.N139I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1467	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184062678	184062678	+	Missense_Mutation	SNP	C	T	T	rs148217150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184062678C>T	uc003fog.2	+	3	2292	c.928C>T	c.(928-930)CGG>TGG	p.R310W	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Missense_Mutation_p.R256W|FAM131A_uc003foe.2_Missense_Mutation_p.R256W	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	310						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184069837	184069837	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184069837A>G	uc003foi.2	-	22	2503	c.2379T>C	c.(2377-2379)GCT>GCC	p.A793A	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Silent_p.A776A|CLCN2_uc011brl.1_Silent_p.A793A|CLCN2_uc011brm.1_Silent_p.A749A	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	793	CBS 2.|Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075458	184075458	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184075458G>A	uc003foi.2	-	7	846	c.722C>T	c.(721-723)GCT>GTT	p.A241V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A241V|CLCN2_uc011brl.1_Missense_Mutation_p.A241V|CLCN2_uc011brm.1_Missense_Mutation_p.A197V|CLCN2_uc011brn.1_Missense_Mutation_p.A241V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	241						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
THPO	7066	broad.mit.edu	37	3	184090537	184090537	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184090537A>G	uc003fol.1	-	6	1041	c.826T>C	c.(826-828)TCA>CCA	p.S276P	THPO_uc003fom.1_Missense_Mutation_p.S272P|THPO_uc003fon.2_Missense_Mutation_p.L237P|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.L233P|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.L197P	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	276					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184290963	184290963	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184290963C>T	uc003foz.2	+	3	1292	c.855C>T	c.(853-855)CGC>CGT	p.R285R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	285	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298290	184298290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184298290A>G	uc003foz.2	+	12	2710	c.2273A>G	c.(2272-2274)GAC>GGC	p.D758G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	758	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).				integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184632771	184632771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184632771G>A	uc003fpb.1	+	26	2357	c.2186G>A	c.(2185-2187)TGT>TAT	p.C729Y	VPS8_uc010hyd.1_Missense_Mutation_p.C639Y|VPS8_uc010hye.1_Missense_Mutation_p.C158Y	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	731							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910033	184910033	+	Missense_Mutation	SNP	G	A	A	rs140662313		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184910033G>A	uc003fpf.2	-	7	2180	c.2153C>T	c.(2152-2154)TCC>TTC	p.S718F	EHHADH_uc011brs.1_Missense_Mutation_p.S622F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922382	184922382	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184922382G>T	uc003fpf.2	-	6	759	c.732C>A	c.(730-732)CCC>CCA	p.P244P	EHHADH_uc011brs.1_Silent_p.P148P	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	244	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184935912	184935912	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184935912T>G	uc003fpf.2	-						EHHADH_uc011brs.1_Intron	NM_001966	NP_001957			enoyl-Coenzyme A, hydratase/3-hydroxyacyl							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
ETV5	2119	broad.mit.edu	37	3	185782253	185782253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185782253C>T	uc003fpz.2	-	9	1170	c.923G>A	c.(922-924)TGC>TAC	p.C308Y	ETV5_uc003fpy.2_Missense_Mutation_p.C350Y	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	308					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)					T	TMPRSS2|SCL45A3	Prostate 								---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185993329	185993329	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185993329T>C	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185997631	185997631	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185997631T>G	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
CRYGS	1427	broad.mit.edu	37	3	186256574	186256574	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186256574A>G	uc003fqe.2	-	3	500	c.448T>C	c.(448-450)TAC>CAC	p.Y150H	CRYGS_uc003fqf.2_Missense_Mutation_p.Y150H	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	150	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)														---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186364090	186364090	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186364090T>C	uc010hyq.2	+	6	909	c.648T>C	c.(646-648)TGT>TGC	p.C216C	FETUB_uc011brz.1_Silent_p.C68C|FETUB_uc003fqn.2_Silent_p.C216C|FETUB_uc003fqo.2_Silent_p.C111C|FETUB_uc010hyr.2_Silent_p.C179C|FETUB_uc010hys.2_Silent_p.C68C|FETUB_uc003fqp.3_Silent_p.C151C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	216	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)														---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186459531	186459531	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186459531G>A	uc011bsa.1	+	10	1558	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	449	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)													---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186505288	186505288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186505288G>A	uc003fqs.2	+	9	953	c.914G>A	c.(913-915)GGT>GAT	p.G305D	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.G306D|EIF4A2_uc003fqv.2_Missense_Mutation_p.G210D|EIF4A2_uc003fqw.2_Missense_Mutation_p.G210D|EIF4A2_uc011bsb.1_Missense_Mutation_p.G178D|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	305	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)				T	BCL6	NHL								---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690672	189690672	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690672C>T	uc011bsk.1	-	11	2078	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	LEPREL1_uc003fsg.2_Missense_Mutation_p.A383T	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	564	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690757	189690757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690757G>A	uc011bsk.1	-	11	1993	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	LEPREL1_uc003fsg.2_Silent_p.S354S	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	535					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190158100	190158100	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190158100T>A	uc003fsj.2	-	4	304	c.237A>T	c.(235-237)AGA>AGT	p.R79S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	79						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190341190	190341190	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190341190A>T	uc003fsm.1	+	7	967	c.761A>T	c.(760-762)TAT>TTT	p.Y254F	IL1RAP_uc003fsk.2_Missense_Mutation_p.Y254F|IL1RAP_uc003fsl.2_Missense_Mutation_p.Y254F|IL1RAP_uc010hzf.2_Missense_Mutation_p.Y113F|IL1RAP_uc010hzg.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.Y254F	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	254	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190366254	190366254	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190366254C>A	uc003fsm.1	+	12	1679	c.1473C>A	c.(1471-1473)GCC>GCA	p.A491A	IL1RAP_uc010hzg.1_Silent_p.A491A|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.A491A|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	491	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
OSTN	344901	broad.mit.edu	37	3	190930420	190930420	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190930420A>G	uc011bsn.1	+	1	99	c.99A>G	c.(97-99)ACA>ACG	p.T33T		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	33					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)														---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192125880	192125880	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192125880C>T	uc003fsx.2	-	1	959	c.133G>A	c.(133-135)GTC>ATC	p.V45I	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	45					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)														---	---	---	---
C3orf59	151963	broad.mit.edu	37	3	192516331	192516331	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516331T>A	uc011bsp.1	-	2	1641	c.1320A>T	c.(1318-1320)CCA>CCT	p.P440P		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	440											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193039614	193039614	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193039614C>A	uc011bsq.1	-	16	1771	c.1771G>T	c.(1771-1773)GCC>TCC	p.A591S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193071938	193071938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193071938A>G	uc011bsq.1	-	6	584	c.584T>C	c.(583-585)ATA>ACA	p.I195T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193210730	193210730	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193210730A>G	uc003ftd.2	-	5	617	c.509T>C	c.(508-510)TTG>TCG	p.L170S	ATP13A4_uc003fte.1_Missense_Mutation_p.L170S|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	170	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193353272	193353272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193353272G>A	uc003ftm.2	+	7	978	c.744G>A	c.(742-744)TTG>TTA	p.L248L	OPA1_uc003ftg.2_Silent_p.L303L|OPA1_uc003fth.2_Silent_p.L267L|OPA1_uc003fti.2_Silent_p.L285L|OPA1_uc003ftj.2_Silent_p.L266L|OPA1_uc003ftk.2_Silent_p.L249L|OPA1_uc003ftl.2_Silent_p.L230L|OPA1_uc003ftn.2_Silent_p.L212L	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	248	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062642	194062642	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194062642G>T	uc003fts.2	-	2	880	c.790C>A	c.(790-792)CTG>ATG	p.L264M		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	264					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)														---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	A	A	rs113394891	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194080147G>A	uc003ftu.2	-	2	1712	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	LRRC15_uc003ftt.2_Silent_p.A548A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	542	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)														---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118737	194118737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194118737C>A	uc003ftv.1	-	2	306	c.275G>T	c.(274-276)GGC>GTC	p.G92V		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	92	LRR 1.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)														---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194158135	194158135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194158135A>G	uc003fty.3	-	18	2306	c.1904T>C	c.(1903-1905)ATG>ACG	p.M635T	ATP13A3_uc003ftz.1_Missense_Mutation_p.M341T	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	635					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)														---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195485993	195485993	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195485993A>G	uc011bto.1	-	18	15062	c.14602_splice	c.e18+1	p.E4868_splice	MUC4_uc003fuz.2_Splice_Site_p.E594_splice|MUC4_uc003fva.2_Splice_Site_p.E476_splice|MUC4_uc003fvb.2_Splice_Site_p.E512_splice|MUC4_uc003fvc.2_Splice_Site|MUC4_uc003fvd.2_Splice_Site|MUC4_uc003fve.2_Splice_Site_p.E512_splice|MUC4_uc010hzr.2_Splice_Site|MUC4_uc011btf.1_Splice_Site_p.E476_splice|MUC4_uc011btg.1_Splice_Site|MUC4_uc011bth.1_Splice_Site_p.E560_splice|MUC4_uc011bti.1_Splice_Site_p.E560_splice|MUC4_uc011btj.1_Splice_Site_p.E737_splice|MUC4_uc011btk.1_Splice_Site_p.E476_splice|MUC4_uc011btl.1_Splice_Site_p.E505_splice|MUC4_uc011btm.1_Splice_Site_p.E685_splice|MUC4_uc011btn.1_Splice_Site_p.E476_splice|MUC4_uc003fvo.2_Splice_Site_p.E760_splice|MUC4_uc003fvp.2_Splice_Site_p.E709_splice	NM_018406	NP_060876			mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195785242	195785242	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195785242A>G	uc003fvz.3	-						TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron	NM_003234	NP_003225			transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)				T	BCL6	NHL								---	---	---	---
TM4SF19	116211	broad.mit.edu	37	3	196050829	196050829	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196050829G>A	uc003fwl.1	-	5	614	c.489C>T	c.(487-489)TGC>TGT	p.C163C	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.A32T|TM4SF19_uc010iad.1_Missense_Mutation_p.A162V|TM4SF19_uc011btv.1_Silent_p.C137C	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	163	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
FBXO45	200933	broad.mit.edu	37	3	196304328	196304328	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196304328G>A	uc010iai.2	+	2	454	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	108	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196612777	196612777	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196612777G>A	uc003fwz.3	+	2	974	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	SENP5_uc011bty.1_Missense_Mutation_p.R242Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196626927	196626927	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196626927T>C	uc003fwz.3	+	4	2001	c.1752T>C	c.(1750-1752)AAT>AAC	p.N584N	SENP5_uc011bty.1_Silent_p.N584N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	584	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196736663	196736663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196736663A>G	uc003fxk.3	-	11	1464	c.1351T>C	c.(1351-1353)TAC>CAC	p.Y451H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	451	Transferrin-like 2.	Iron 2 (By similarity).			cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196751234	196751234	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196751234G>A	uc003fxk.3	-	4	540	c.427C>T	c.(427-429)CCC>TCC	p.P143S	MFI2_uc003fxl.3_Missense_Mutation_p.P143S|MFI2_uc011bua.1_Missense_Mutation_p.P143S	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	143	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
DLG1	1739	broad.mit.edu	37	3	197023333	197023333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197023333A>G	uc003fxo.3	-	3	225	c.35T>C	c.(34-36)TTG>TCG	p.L12S	DLG1_uc003fxn.3_Missense_Mutation_p.L12S|DLG1_uc011bue.1_Missense_Mutation_p.L12S|DLG1_uc010ial.2_Missense_Mutation_p.L12S|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.L12S|uc003fxq.2_5'Flank	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	12	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197428660	197428660	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197428660T>C	uc003fyc.2	-	6	829	c.646A>G	c.(646-648)ACC>GCC	p.T216A	KIAA0226_uc003fyd.3_Missense_Mutation_p.T156A|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.T49A|KIAA0226_uc003fyg.2_Missense_Mutation_p.T209A	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	216	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)														---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197665523	197665523	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197665523G>A	uc003fyo.2	-	4	557	c.411C>T	c.(409-411)GGC>GGT	p.G137G	IQCG_uc003fyn.2_Silent_p.G39G|IQCG_uc003fyp.2_Silent_p.G137G|IQCG_uc003fyq.3_Silent_p.G137G	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	137											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197707271	197707271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197707271T>G	uc011buo.1	+	6	646	c.624T>G	c.(622-624)GAT>GAG	p.D208E	LMLN_uc003fyt.2_Missense_Mutation_p.D156E|LMLN_uc010iar.2_Missense_Mutation_p.D208E|LMLN_uc010ias.2_Missense_Mutation_p.D156E|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	208					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)														---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	437167	437167	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:437167G>A	uc003gag.2	-	3	1780	c.1089C>T	c.(1087-1089)TGC>TGT	p.C363C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.C395C|ZNF721_uc010ibe.2_Silent_p.C351C	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	363						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	731294	731294	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:731294A>G	uc011bva.1	+	7	721	c.246A>G	c.(244-246)GTA>GTG	p.V82V	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.V82V|PCGF3_uc010ibh.2_Silent_p.V82V|PCGF3_uc003gbg.1_Silent_p.V48V|PCGF3_uc003gbh.2_Silent_p.V48V	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	755208	755208	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:755208A>G	uc011bva.1	+						PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron|PCGF3_uc003gbg.1_Intron|PCGF3_uc003gbh.2_Intron	NM_006315	NP_006306			ring finger protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	944311	944311	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:944311G>T	uc003gbq.2	+						TMEM175_uc010ibl.1_Intron|TMEM175_uc003gbp.1_Intron|TMEM175_uc003gbr.2_Intron|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Intron|TMEM175_uc003gbt.2_Intron|TMEM175_uc003gbv.2_Intron|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702			transmembrane protein 175							integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	949616	949616	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:949616C>T	uc003gbq.2	+	10	878	c.780C>T	c.(778-780)CGC>CGT	p.R260R	TMEM175_uc010ibl.1_Silent_p.R260R|TMEM175_uc003gbp.1_Silent_p.R178R|TMEM175_uc003gbr.2_Silent_p.R178R|TMEM175_uc003gbu.2_Silent_p.R178R|TMEM175_uc003gbs.2_Silent_p.R143R|TMEM175_uc003gbt.2_Silent_p.R143R|TMEM175_uc003gbv.2_Silent_p.R143R|TMEM175_uc010ibm.2_Silent_p.R76R	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	260						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	954521	954521	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:954521C>T	uc003gbw.2	-						DGKQ_uc010ibn.2_Intron	NM_001347	NP_001338			diacylglycerol kinase, theta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
SLC26A1	10861	broad.mit.edu	37	4	985234	985234	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:985234C>A	uc003gcb.2	-	3	636	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC26A1_uc003gbx.2_Missense_Mutation_p.Q86H|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.Q86H	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	86	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996113	996113	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996113C>T	uc003gby.2	+	8	1117	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y365Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	343					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996128	996128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996128C>T	uc003gby.2	+	8	1132	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N370N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	348					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
RNF212	285498	broad.mit.edu	37	4	1067437	1067437	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1067437G>A	uc003gcj.2	-	9	854	c.524C>T	c.(523-525)GCC>GTC	p.A175V	RNF212_uc003gch.2_Missense_Mutation_p.A17V|RNF212_uc003gci.2_Missense_Mutation_p.A175V|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	175							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)												OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1347004	1347004	+	Missense_Mutation	SNP	G	A	A	rs76217876	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1347004G>A	uc003gde.3	+	5	1184	c.737G>A	c.(736-738)CGG>CAG	p.R246Q		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	246											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1377542	1377542	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1377542T>C	uc003gde.3	+						KIAA1530_uc010ibv.2_Intron	NM_020894	NP_065945			hypothetical protein LOC57654												0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388698	1388698	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388698G>A	uc003gdf.2	+	1	3359	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388760	1388760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388760G>A	uc003gdf.2	+	1	3421	c.461G>A	c.(460-462)CGG>CAG	p.R154Q		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	154					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389092	1389092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1389092C>T	uc003gdf.2	+	1	3753	c.793C>T	c.(793-795)CCC>TCC	p.P265S		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	265	7.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1656774	1656774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656774C>T	uc011bve.1	-	4	1011	c.813G>A	c.(811-813)CGG>CGA	p.R271R	FAM53A_uc010ibw.2_Silent_p.R271R	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	271	Nuclear localization signal (Potential).					nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1656868	1656868	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656868C>T	uc011bve.1	-	4	917	c.719G>A	c.(718-720)AGC>AAC	p.S240N	FAM53A_uc010ibw.2_Missense_Mutation_p.S240N	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	240						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1902809	1902809	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1902809T>G	uc003gdz.3	+	2	604	c.428T>G	c.(427-429)ATT>AGT	p.I143S	WHSC1_uc003geb.3_Missense_Mutation_p.I143S|WHSC1_uc003gec.3_Missense_Mutation_p.I143S|WHSC1_uc003ged.3_Missense_Mutation_p.I143S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.I143S|WHSC1_uc003gdy.1_Missense_Mutation_p.I143S|WHSC1_uc010icd.1_Missense_Mutation_p.I143S|WHSC1_uc003gea.1_Missense_Mutation_p.I143S|WHSC1_uc010ice.1_Missense_Mutation_p.I143S|WHSC1_uc003geg.1_Missense_Mutation_p.I143S|WHSC1_uc003geh.1_Missense_Mutation_p.I143S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	143					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273447	2273447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2273447A>G	uc003gex.1	-	11	2702	c.2383T>C	c.(2383-2385)TCA>CCA	p.S795P	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S725P|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S765P|ZFYVE28_uc003gew.1_Missense_Mutation_p.S681P	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	795					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3																		---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2834759	2834759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2834759T>C	uc003gfi.3	+	12	1651	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SH3BP2_uc011bvp.1_Missense_Mutation_p.Y539H|SH3BP2_uc003gfj.3_Missense_Mutation_p.Y568H|SH3BP2_uc003gfk.3_Missense_Mutation_p.Y511H|SH3BP2_uc003gfl.3_Missense_Mutation_p.Y444H|SH3BP2_uc003gfm.3_Missense_Mutation_p.Y486H	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	511	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---
ADD1	118	broad.mit.edu	37	4	2886334	2886334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2886334G>A	uc003gfr.2	+	4	639	c.451G>A	c.(451-453)GCG>ACG	p.A151T	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.A151T|ADD1_uc003gfo.2_Missense_Mutation_p.A151T|ADD1_uc003gfp.2_Missense_Mutation_p.A151T|ADD1_uc003gfq.2_Missense_Mutation_p.A151T|ADD1_uc003gfs.2_Missense_Mutation_p.A151T|ADD1_uc003gft.3_Missense_Mutation_p.A151T|ADD1_uc003gfu.2_5'Flank	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	151					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3037113	3037113	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3037113T>C	uc003ggn.1	+	13	1725	c.1270T>C	c.(1270-1272)TTA>CTA	p.L424L	GRK4_uc003ggo.1_Silent_p.L424L|GRK4_uc003ggp.1_Silent_p.L392L|GRK4_uc003ggq.1_Silent_p.L392L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	424	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
HTT	3064	broad.mit.edu	37	4	3148604	3148604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3148604C>T	uc011bvq.1	+	26	3375	c.3230C>T	c.(3229-3231)TCG>TTG	p.S1077L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1075					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318001	3318001	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318001C>T	uc003ggw.2	+	2	1008	c.104C>T	c.(103-105)ACG>ATG	p.T35M	RGS12_uc003ggu.2_Missense_Mutation_p.T35M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T35M|RGS12_uc003ggx.1_Missense_Mutation_p.T35M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	35	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318443	3318443	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318443A>G	uc003ggw.2	+	2	1450	c.546A>G	c.(544-546)GGA>GGG	p.G182G	RGS12_uc003ggu.2_Silent_p.G182G|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.G182G|RGS12_uc003ggx.1_Silent_p.G182G	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	182						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
LRPAP1	4043	broad.mit.edu	37	4	3526647	3526647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3526647T>C	uc003ghi.2	-	2	421	c.336A>G	c.(334-336)ATA>ATG	p.I112M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	112					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)														---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3769612	3769612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3769612T>C	uc003ghm.2	+	1	1317	c.1279T>C	c.(1279-1281)TAC>CAC	p.Y427H	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	427	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624510	5624510	+	Missense_Mutation	SNP	C	T	T	rs139717271		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5624510C>T	uc003gij.2	-	14	2309	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	EVC2_uc011bwb.1_Missense_Mutation_p.R192Q|EVC2_uc003gik.2_Missense_Mutation_p.R672Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	752	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
EVC	2121	broad.mit.edu	37	4	5754593	5754593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5754593C>T	uc003gil.1	+	9	1313	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	377					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6064122	6064122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6064122G>A	uc003giu.3	-	10	1753	c.1477C>T	c.(1477-1479)CGG>TGG	p.R493W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R493W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R308W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R493W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R328W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R493W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R493W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	493	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6083425	6083425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6083425G>A	uc003giu.3	-	6	1288	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R338W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R173W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R338W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R173W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R338W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R338W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	338	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303480	6303480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303480G>A	uc003giy.2	+	8	2124	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H	WFS1_uc003gix.2_Missense_Mutation_p.R653H|WFS1_uc003giz.2_Missense_Mutation_p.R471H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	653			R -> C (in a patient with type 2 diabetes).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303751	6303751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303751C>T	uc003giy.2	+	8	2395	c.2229C>T	c.(2227-2229)AGC>AGT	p.S743S	WFS1_uc003gix.2_Silent_p.S743S|WFS1_uc003giz.2_Silent_p.S561S	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	743					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6380273	6380273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6380273G>A	uc003gjc.2	-	3	565	c.195C>T	c.(193-195)GGC>GGT	p.G65G	PPP2R2C_uc003gjb.2_Silent_p.G48G|PPP2R2C_uc011bwd.1_Silent_p.G58G|PPP2R2C_uc011bwe.1_Silent_p.G58G|PPP2R2C_uc003gja.2_Silent_p.G65G|PPP2R2C_uc003gjd.1_Silent_p.G153G	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	65					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6826332	6826332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6826332G>A	uc003gjr.3	+	3	615	c.152G>A	c.(151-153)GGC>GAC	p.G51D	KIAA0232_uc003gjq.3_Missense_Mutation_p.G51D	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	51							ATP binding			ovary(2)	2																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6863906	6863906	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6863906T>C	uc003gjr.3	+	7	2260	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G	KIAA0232_uc003gjq.3_Silent_p.G599G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	599							ATP binding			ovary(2)	2																		---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	7011616	7011616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7011616C>T	uc011bwg.1	+	10	1538	c.1459C>T	c.(1459-1461)CAT>TAT	p.H487Y	TBC1D14_uc003gjs.3_Missense_Mutation_p.H487Y|TBC1D14_uc010idh.2_Missense_Mutation_p.H207Y|TBC1D14_uc011bwh.1_Missense_Mutation_p.H134Y|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056629	7056629	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7056629A>G	uc003gjw.3	+	2	1262	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A	TADA2B_uc010idi.2_Missense_Mutation_p.T296A	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0																		---	---	---	---
GRPEL1	80273	broad.mit.edu	37	4	7064145	7064145	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7064145T>C	uc003gjy.1	-	3	315	c.274A>G	c.(274-276)AGC>GGC	p.S92G	GRPEL1_uc003gjz.1_Missense_Mutation_p.S92G	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	92					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0																		---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7435600	7435600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7435600C>A	uc011bwj.1	-	1	1101	c.1007G>T	c.(1006-1008)TGC>TTC	p.C336F	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	336	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome					0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7788020	7788020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7788020A>G	uc003gkg.1	-	12	1704	c.1431T>C	c.(1429-1431)GTT>GTC	p.V477V	AFAP1_uc011bwk.1_Silent_p.V477V	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	477						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7795484	7795484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7795484G>A	uc003gkg.1	-	11	1609	c.1336C>T	c.(1336-1338)CCG>TCG	p.P446S	AFAP1_uc011bwk.1_Missense_Mutation_p.P446S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	446						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7840356	7840356	+	Silent	SNP	C	T	T	rs144556165		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7840356C>T	uc003gkg.1	-	6	894	c.621G>A	c.(619-621)CCG>CCA	p.P207P	AFAP1_uc011bwk.1_Silent_p.P207P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	207	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229166	8229166	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229166A>T	uc003gkv.3	+	12	1846	c.1745A>T	c.(1744-1746)TAC>TTC	p.Y582F	SH3TC1_uc003gkw.3_Missense_Mutation_p.Y506F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	582	TPR 1.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229515	8229515	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229515G>A	uc003gkv.3	+	12	2195	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	SH3TC1_uc003gkw.3_Silent_p.S622S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	698	TPR 3.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8233870	8233870	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8233870C>A	uc003gkv.3	+	13	3219	c.3118C>A	c.(3118-3120)CTG>ATG	p.L1040M	SH3TC1_uc003gkw.3_Missense_Mutation_p.L964M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1040	TPR 7.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8271808	8271808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8271808G>A	uc003gla.2	+	1	317	c.113G>A	c.(112-114)CGC>CAC	p.R38H	HTRA3_uc003gkz.2_Missense_Mutation_p.R38H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	38	IGFBP N-terminal.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8307843	8307843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8307843G>A	uc003gla.2	+	9	1546	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	448					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447359	10447359	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10447359A>G	uc003gmn.2	-	3	1081	c.594T>C	c.(592-594)GGT>GGC	p.G198G		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	198	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13590398	13590398	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13590398T>C	uc003gmz.1	-	15	8345	c.8228A>G	c.(8227-8229)AAA>AGA	p.K2743R		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2743							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13603610	13603610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13603610G>A	uc003gmz.1	-	10	5031	c.4914C>T	c.(4912-4914)ATC>ATT	p.I1638I	BOD1L_uc010idr.1_Silent_p.I975I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1638							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15018811	15018811	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15018811G>A	uc003gni.1	+	4	811	c.724_splice	c.e4-1	p.D242_splice	CPEB2_uc003gnj.1_Splice_Site_p.D212_splice|CPEB2_uc003gnk.1_Splice_Site_p.D242_splice|CPEB2_uc003gnl.1_Splice_Site_p.D215_splice|CPEB2_uc003gnm.1_Splice_Site_p.D212_splice|CPEB2_uc003gnn.1_Splice_Site_p.D215_splice	NM_182485	NP_872291			cytoplasmic polyadenylation element binding						regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1																		---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15614035	15614035	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15614035A>C	uc003goc.1	-	10	1956	c.1853T>G	c.(1852-1854)GTT>GGT	p.V618G	FBXL5_uc010idw.1_Missense_Mutation_p.V531G|FBXL5_uc003gob.1_Missense_Mutation_p.V492G|FBXL5_uc010idx.1_Missense_Mutation_p.V617G|FBXL5_uc003god.1_Missense_Mutation_p.V601G|FBXL5_uc010idy.1_Missense_Mutation_p.V618G	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	618	LRR 6.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0																		---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15964674C>A	uc003gon.2	-	1	186	c.79G>T	c.(79-81)GGA>TGA	p.G27*		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	27						extracellular space	growth factor binding				0																		---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15994012	15994012	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15994012A>G	uc003goo.2	-	16	1982	c.1770T>C	c.(1768-1770)CAT>CAC	p.H590H	PROM1_uc003gor.2_Silent_p.H590H|PROM1_uc003gos.2_Silent_p.H581H|PROM1_uc003got.2_Silent_p.H590H|PROM1_uc003gou.2_Silent_p.H581H|PROM1_uc003gop.2_Silent_p.H581H|PROM1_uc003goq.3_Silent_p.H581H	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	590	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7																		---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16188435	16188435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16188435T>C	uc010ied.1	-	6	896	c.815A>G	c.(814-816)AAG>AGG	p.K272R	TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.K161R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	272						integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504260	16504260	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504260A>T	uc003goz.2	-	8					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_3'UTR|LDB2_uc011bxh.1_3'UTR|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_3'UTR|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	T	T	rs138614817		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504355C>T	uc003goz.2	-	8	1349	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.A343T|LDB2_uc011bxh.1_Missense_Mutation_p.A317T|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.A220T|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	345							LIM domain binding|transcription cofactor activity				0																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805232	17805232	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805232C>T	uc003gpn.2	-	3	1594	c.533G>A	c.(532-534)TGC>TAC	p.C178Y	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	178						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805389	17805389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805389T>C	uc003gpn.2	-	3	1437	c.376A>G	c.(376-378)AAG>GAG	p.K126E	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	126						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20469366	20469366	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20469366T>C	uc003gpr.1	+						SLIT2_uc003gps.1_Intron	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20521008	20521008	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20521008C>T	uc003gpr.1	+	12	1266	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	SLIT2_uc003gps.1_Silent_p.V354V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	354	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525792G>A	uc003gpr.1	+	14	1634	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	SLIT2_uc003gps.1_Missense_Mutation_p.R477H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20597443C>T	uc003gpr.1	+	31	3510	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711339	20711339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20711339G>A	uc010iek.2	+	5	700	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.Q151Q|PACRGL_uc003gpz.2_Silent_p.Q103Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.Q103Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	103							binding				0																		---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20734355	20734355	+	Nonsense_Mutation	SNP	A	T	T	rs141959590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20734355A>T	uc003gqe.2	-	6	624	c.540T>A	c.(538-540)TAT>TAA	p.Y180*	KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y176*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y135*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y172*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y135*|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y177*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y160*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	197						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884223	20884223	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884223A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Intron|KCNIP4_uc003gqd.3_Intron	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884319	20884319	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884319A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Silent_p.A5A|KCNIP4_uc003gqd.3_5'UTR	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22463404	22463404	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22463404A>G	uc003gqm.1	-	3	622	c.357T>C	c.(355-357)AGT>AGC	p.S119S	GPR125_uc003gqo.2_Silent_p.S119S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	119	Extracellular (Potential).|LRR 2.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22737695	22737695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22737695T>C	uc003gqp.3	+	2	241	c.150T>C	c.(148-150)GAT>GAC	p.D50D	GBA3_uc010iep.2_Silent_p.D50D|GBA3_uc011bxo.1_Silent_p.D51D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	50					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
MIR573	693158	broad.mit.edu	37	4	24521905	24521905	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24521905A>G	hsa-mir-573|MI0003580	-			c.9A>G																				0																		---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24550530C>T	uc003gqx.2	-	6	1364	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24556472	24556472	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24556472A>G	uc003gqx.2	-	5	1124	c.956T>C	c.(955-957)GTT>GCT	p.V319A		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	319					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25146678	25146678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25146678T>C	uc003grg.2	-	7	1095	c.882A>G	c.(880-882)ATA>ATG	p.I294M	SEPSECS_uc003gri.2_Missense_Mutation_p.I293M|SEPSECS_uc003grh.2_Missense_Mutation_p.I215M	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	294					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27010471	27010471	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27010471G>A	uc003gsh.3	+	11	1837	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	STIM2_uc003gsg.3_Missense_Mutation_p.A533T|STIM2_uc010iex.2_Missense_Mutation_p.A533T|STIM2_uc010iey.2_Missense_Mutation_p.A157T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	446	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725086	30725086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30725086A>G	uc003gsk.1	+	1	3050	c.2042A>G	c.(2041-2043)AAC>AGC	p.N681S	PCDH7_uc011bxw.1_Missense_Mutation_p.N634S|PCDH7_uc011bxx.1_Missense_Mutation_p.N681S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	681	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36109300	36109300	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36109300T>C	uc003gsq.1	-	27	4510	c.4172A>G	c.(4171-4173)TAC>TGC	p.Y1391C		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1391	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36149198	36149198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36149198T>A	uc003gsq.1	-	18	3509	c.3171A>T	c.(3169-3171)AGA>AGT	p.R1057S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1057	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36161111	36161111	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36161111A>G	uc003gsq.1	-	14	2797	c.2459T>C	c.(2458-2460)GTA>GCA	p.V820A		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	820					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38138948	38138948	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38138948G>T	uc003gtb.2	+	20	3842	c.3499G>T	c.(3499-3501)GGC>TGC	p.G1167C	TBC1D1_uc011byd.1_Missense_Mutation_p.G1158C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G954C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G179C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1167						nucleus	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38776589	38776589	+	Missense_Mutation	SNP	C	T	T	rs147715812		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38776589C>T	uc003gti.2	-	2	1002	c.623G>A	c.(622-624)CGT>CAT	p.R208H	TLR10_uc003gtj.2_Missense_Mutation_p.R208H|TLR10_uc003gtk.2_Missense_Mutation_p.R208H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	208	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798650	38798650	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38798650G>A	uc003gtl.2	-	4	2077	c.1803C>T	c.(1801-1803)TGC>TGT	p.C601C		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	601	Helical; (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39064525	39064525	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39064525G>A	uc003gts.2	+	1	466	c.391G>A	c.(391-393)GCA>ACA	p.A131T	KLHL5_uc003gtp.2_Missense_Mutation_p.A85T|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Missense_Mutation_p.A131T|KLHL5_uc003gtt.2_Missense_Mutation_p.A131T	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	131						cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39083781	39083781	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39083781T>C	uc003gts.2	+	4	1113	c.1038_splice	c.e4+2	p.M346_splice	KLHL5_uc003gtp.2_Splice_Site_p.M300_splice|KLHL5_uc003gtq.2_Splice_Site_p.M159_splice|KLHL5_uc003gtr.1_Splice_Site_p.M346_splice|KLHL5_uc003gtt.2_Splice_Site_p.M285_splice	NM_015990	NP_057074			kelch-like 5 isoform 1							cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39297264	39297264	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39297264A>G	uc003gty.1	-	22	3061	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A	RFC1_uc003gtx.1_Missense_Mutation_p.V975A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	976					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39843614	39843614	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39843614A>C	uc003guv.3	-	31	4151	c.3611T>G	c.(3610-3612)ATT>AGT	p.I1204S	PDS5A_uc010ifo.2_Missense_Mutation_p.I1164S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1204					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39863914	39863914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39863914T>C	uc003guv.3	-	26	3551	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y964C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1004					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123127	40123127	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123127A>T	uc003guy.3	+	9	3734	c.3396A>T	c.(3394-3396)TTA>TTT	p.L1132F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1052F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1052F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1132						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---
NSUN7	79730	broad.mit.edu	37	4	40776855	40776855	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40776855A>T	uc003gvj.3	+	6	1208	c.713A>T	c.(712-714)GAT>GTT	p.D238V	NSUN7_uc003gvh.2_Missense_Mutation_p.D238V|NSUN7_uc003gvi.3_Missense_Mutation_p.D238V	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0																		---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016219	41016219	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41016219T>C	uc003gvl.2	-	6	846	c.216A>G	c.(214-216)CTA>CTG	p.L72L	APBB2_uc003gvm.2_Silent_p.L72L|APBB2_uc003gvn.2_Silent_p.L72L|APBB2_uc011byt.1_Silent_p.L55L	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	72					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951356	41951356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951356A>G	uc003gwi.2	+	6	933	c.568A>G	c.(568-570)AGA>GGA	p.R190G	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	190						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951372	41951372	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951372G>A	uc003gwi.2	+	6	949	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	195						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42065102	42065102	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42065102A>T	uc003gwl.2	+	11	1142	c.996A>T	c.(994-996)GGA>GGT	p.G332G	SLC30A9_uc011byx.1_Silent_p.G92G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	332	Helical; (Potential).				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42069122	42069122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42069122A>G	uc003gwl.2	+	14	1311	c.1165A>G	c.(1165-1167)AGT>GGT	p.S389G	SLC30A9_uc011byx.1_Missense_Mutation_p.S149G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	389					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42416673	42416673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42416673C>T	uc003gwr.2	-	36	3600	c.3368G>A	c.(3367-3369)CGC>CAC	p.R1123H	ATP8A1_uc003gwq.2_Missense_Mutation_p.R349H|ATP8A1_uc003gws.2_Missense_Mutation_p.R1108H	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1123	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42467001	42467001	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42467001A>T	uc003gwr.2	-	26	2649	c.2417T>A	c.(2416-2418)GTC>GAC	p.V806D	ATP8A1_uc003gwq.2_Missense_Mutation_p.V32D|ATP8A1_uc003gws.2_Missense_Mutation_p.V791D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	806	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42588453	42588453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42588453A>G	uc003gwr.2	-	9	867	c.635T>C	c.(634-636)TTG>TCG	p.L212S	ATP8A1_uc003gws.2_Missense_Mutation_p.L212S|ATP8A1_uc011byz.1_Missense_Mutation_p.L212S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	212	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42895339G>A	uc003gwt.2	+	1	56	c.56G>A	c.(55-57)CGG>CAG	p.R19Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42964999	42964999	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42964999G>A	uc003gwt.2	+	2	475	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	159	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450344	44450344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44450344G>A	uc003gwu.2	-	1	481	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	66	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3															HNSCC(17;0.042)			---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44692771	44692771	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44692771C>G	uc003gww.3	+	12	1580	c.1373C>G	c.(1372-1374)GCA>GGA	p.A458G		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	458					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252449	46252449	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46252449A>G	uc003gxc.3	-	9	1905	c.1232T>C	c.(1231-1233)TTC>TCC	p.F411S	GABRA2_uc010igc.2_Missense_Mutation_p.F411S|GABRA2_uc011bzc.1_Missense_Mutation_p.F416S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	411	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305564	46305564	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46305564T>G	uc003gxc.3	-	7	1442	c.769A>C	c.(769-771)ACC>CCC	p.T257P	GABRA2_uc010igc.2_Missense_Mutation_p.T257P|GABRA2_uc011bzc.1_Missense_Mutation_p.T202P|GABRA2_uc003gxe.2_Missense_Mutation_p.T257P	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	257	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46334631	46334631	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46334631C>T	uc003gxc.3	-	3	928	c.255_splice	c.e3+1	p.M85_splice	GABRA2_uc010igc.2_Splice_Site_p.M85_splice|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Splice_Site_p.M85_splice	NM_001114175	NP_001107647			gamma-aminobutyric acid A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930536	46930536	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46995427C>A	uc003gxg.2	-	1	154	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	5					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47405734	47405734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47405734A>G	uc003gxh.2	+						GABRB1_uc011bze.1_Intron	NM_000812	NP_000803			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47571042	47571042	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47571042G>T	uc003gxk.1	+	16	3206	c.3042G>T	c.(3040-3042)AAG>AAT	p.K1014N	ATP10D_uc003gxl.1_Missense_Mutation_p.K262N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1014	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47663845	47663845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47663845A>G	uc003gxm.2	-	12	1711	c.1618T>C	c.(1618-1620)TGT>CGT	p.C540R	CORIN_uc011bzf.1_Missense_Mutation_p.C401R|CORIN_uc011bzg.1_Missense_Mutation_p.C473R|CORIN_uc011bzh.1_Missense_Mutation_p.C503R|CORIN_uc011bzi.1_Missense_Mutation_p.C503R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	540	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695094	47695094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695094C>T	uc003gxm.2	-	6	899	c.806G>A	c.(805-807)TGT>TAT	p.C269Y	CORIN_uc011bzf.1_Missense_Mutation_p.C130Y|CORIN_uc011bzg.1_Missense_Mutation_p.C202Y|CORIN_uc011bzh.1_Missense_Mutation_p.C269Y|CORIN_uc011bzi.1_Missense_Mutation_p.C269Y|CORIN_uc003gxn.3_Missense_Mutation_p.C269Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	269	Extracellular (Potential).|LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939081	47939081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939081A>G	uc003gxt.3	-	11	1696	c.1430T>C	c.(1429-1431)GTA>GCA	p.V477A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V546A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	477	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939244	47939244	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939244A>G	uc003gxt.3	-	11	1533	c.1267T>C	c.(1267-1269)TTT>CTT	p.F423L	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F492L	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	423	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939482	47939482	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939482G>A	uc003gxt.3	-	11	1295	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.G412G	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	343	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
TEC	7006	broad.mit.edu	37	4	48147163	48147163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48147163C>T	uc003gxz.2	-	14	1494	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	468	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48542963	48542963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48542963T>C	uc003gyh.1	-	46	6307	c.5702A>G	c.(5701-5703)GAT>GGT	p.D1901G	FRYL_uc003gyg.1_Missense_Mutation_p.D597G|FRYL_uc003gyi.1_Missense_Mutation_p.D789G|FRYL_uc003gyj.1_Missense_Mutation_p.D196G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1901					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48566115	48566115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48566115T>C	uc003gyh.1	-	31	4051	c.3446A>G	c.(3445-3447)CAC>CGC	p.H1149R	FRYL_uc003gyk.2_Missense_Mutation_p.H1149R|FRYL_uc003gyi.1_Missense_Mutation_p.H38R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48584736	48584736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48584736C>T	uc003gyh.1	-	20	2369	c.1764G>A	c.(1762-1764)ATG>ATA	p.M588I	FRYL_uc003gyk.2_Missense_Mutation_p.M588I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
OCIAD1	54940	broad.mit.edu	37	4	48859353	48859353	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48859353C>A	uc003gyo.2	+	8	928	c.671C>A	c.(670-672)CCT>CAT	p.P224H	OCIAD1_uc003gyr.2_Missense_Mutation_p.P224H|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.P229H	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	224						endosome	protein binding				0																		---	---	---	---
DCUN1D4	23142	broad.mit.edu	37	4	52758003	52758003	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52758003A>G	uc003gze.2	+	7	625	c.492A>G	c.(490-492)GGA>GGG	p.G164G	DCUN1D4_uc003gzf.2_Silent_p.G164G|DCUN1D4_uc011bzn.1_Silent_p.G104G|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.G208G	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	164	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)															---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861789	52861789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52861789C>A	uc003gzi.2	-	4	1412	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	467						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52945916	52945916	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52945916A>C	uc003gzl.2	+	9	1464	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.I364L|SPATA18_uc003gzk.1_Missense_Mutation_p.I396L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	396					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	54231548	54231548	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54231548A>G	uc003gzu.2	-	1	695	c.561T>C	c.(559-561)CTT>CTC	p.L187L	SCFD2_uc010igm.2_Silent_p.L187L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	187					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54440034	54440034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54440034G>A	uc003hag.3	-	2	392	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	46	RING-type.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
KIT	3815	broad.mit.edu	37	4	55524239	55524239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55524239G>A	uc010igr.2	+	1	145	c.58G>A	c.(58-60)GTC>ATC	p.V20I	KIT_uc010igs.2_Missense_Mutation_p.V20I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	20					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55565802	55565802	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55565802A>T	uc010igr.2	+	4	713	c.626A>T	c.(625-627)AAA>ATA	p.K209I	KIT_uc010igs.2_Missense_Mutation_p.K209I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	209	Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55592157	55592157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55592157A>G	uc010igr.2	+	9	1568	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	KIT_uc010igs.2_Missense_Mutation_p.Y494C|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	494	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.Y494Y(1)|p.E490_F504>DHIVVSLTF(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KDR	3791	broad.mit.edu	37	4	55964961	55964961	+	Missense_Mutation	SNP	T	A	A	rs151060903		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55964961T>A	uc003has.2	-	16	2578	c.2276A>T	c.(2275-2277)GAA>GTA	p.E759V	KDR_uc003hat.1_Missense_Mutation_p.E759V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	759	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972863	55972863	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55972863T>C	uc003has.2	-	11	1829	c.1527A>G	c.(1525-1527)GGA>GGG	p.G509G	KDR_uc003hat.1_Silent_p.G509G|KDR_uc011bzx.1_Silent_p.G509G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	509	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56730485	56730485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56730485G>A	uc003hbe.1	+	4	506	c.348G>A	c.(346-348)TGG>TGA	p.W116*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.W116*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.W116*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	116					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57269249	57269249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57269249T>C	uc003hbr.2	-	5	820	c.618A>G	c.(616-618)TTA>TTG	p.L206L		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	206	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57384867	57384867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57384867T>A	uc003hby.1	+	3	488	c.40T>A	c.(40-42)TCC>ACC	p.S14T		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	78							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57389893	57389893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57389893A>T	uc003hby.1	+	4	671	c.223A>T	c.(223-225)ATC>TTC	p.I75F		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	139							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57897134	57897134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57897134C>T	uc003hcl.1	+	25	3548	c.3505C>T	c.(3505-3507)CCG>TCG	p.P1169S	POLR2B_uc011cae.1_Missense_Mutation_p.P1162S|POLR2B_uc011caf.1_Missense_Mutation_p.P1094S|POLR2B_uc003hcm.1_Missense_Mutation_p.P662S	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62813808	62813808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62813808T>C	uc010ihh.2	+						LPHN3_uc003hcq.3_Intron|LPHN3_uc003hct.2_Intron	NM_015236	NP_056051			latrophilin 3 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66535289	66535289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66535289T>G	uc003hcy.2	-	1	365	c.172A>C	c.(172-174)AGC>CGC	p.S58R	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.S58R|EPHA5_uc011cah.1_Missense_Mutation_p.S58R|EPHA5_uc011cai.1_Missense_Mutation_p.S58R|EPHA5_uc003hda.2_Missense_Mutation_p.S58R|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	58	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489832	68489832	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489832T>C	uc003hdg.3	-							NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489854	68489854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489854T>C	uc003hdg.3	-	30	2882	c.2830A>G	c.(2830-2832)ACT>GCT	p.T944A		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	944					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68490772	68490772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68490772C>A	uc003hdg.3	-	29	2704	c.2652G>T	c.(2650-2652)AAG>AAT	p.K884N		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	884					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610386	68610386	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610386G>T	uc003hdn.2	-	2	2393	c.642C>A	c.(640-642)TTC>TTA	p.F214L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	214	Helical; Name=5; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610404	68610404	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610404T>G	uc003hdn.2	-	2	2375	c.624A>C	c.(622-624)CAA>CAC	p.Q208H	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	208	Extracellular (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68619626	68619626	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68619626A>T	uc003hdn.2	-	1	2179	c.428T>A	c.(427-429)ATC>AAC	p.I143N	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.I143N	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	143	Cytoplasmic (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68928328	68928328	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68928328A>G	uc003hdt.1	-						LOC550112_uc003hdl.3_RNA|uc011cak.1_RNA|SYT14L_uc010ihn.2_RNA	NM_207407	NP_997290			transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202890	69202890	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69202890T>C	uc003hdx.2	-	4	1091	c.738A>G	c.(736-738)GAA>GAG	p.E246E	YTHDC1_uc003hdy.2_Silent_p.E246E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	246	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69203419	69203419	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69203419A>G	uc003hdx.2	-	3	683	c.330T>C	c.(328-330)GAT>GAC	p.D110D	YTHDC1_uc003hdy.2_Silent_p.D110D	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	110										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811057	69811057	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69811057T>G	uc003hef.2	-	2	862	c.831A>C	c.(829-831)GGA>GGC	p.G277G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	277	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066414	70066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70066414A>G	uc003heh.2	-	6	1343	c.1334T>C	c.(1333-1335)TTA>TCA	p.L445S	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	445					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3																		---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70592890	70592890	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70592890G>T	uc003hen.2	-	8	1105	c.807C>A	c.(805-807)TTC>TTA	p.F269L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	269					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0																		---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71200957	71200957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71200957A>G	uc003hff.2	+	1	287	c.201A>G	c.(199-201)AAA>AAG	p.K67K		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	67						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71201519	71201519	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71201519G>A	uc003hff.2	+	1	849	c.763G>A	c.(763-765)GCT>ACT	p.A255T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	255						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508727	71508727	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71508727A>G	uc011caw.1	+	9	1865	c.1584A>G	c.(1582-1584)CCA>CCG	p.P528P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555419	71555419	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71555419A>G	uc003hfo.2	+	1	1224	c.1025A>G	c.(1024-1026)AAA>AGA	p.K342R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	342					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)															---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71634299	71634299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71634299C>T	uc003hfq.2	+	5	1212	c.617C>T	c.(616-618)GCC>GTC	p.A206V	RUFY3_uc003hfp.3_Missense_Mutation_p.A266V|RUFY3_uc011cax.1_Missense_Mutation_p.A224V|RUFY3_uc003hfr.2_Missense_Mutation_p.A206V|RUFY3_uc011cay.1_Missense_Mutation_p.A142V	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	206	RUN.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72363287	72363287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72363287G>A	uc003hfy.2	+	16	2161	c.2044G>A	c.(2044-2046)GTC>ATC	p.V682I	SLC4A4_uc010iic.2_Missense_Mutation_p.V682I|SLC4A4_uc010iib.2_Missense_Mutation_p.V682I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V682I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V638I|SLC4A4_uc010iid.2_Intron	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	682	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72429508	72429508	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72429508A>G	uc003hfy.2	+	24	3217	c.3100_splice	c.e24-2	p.S1034_splice	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Splice_Site_p.S950_splice|SLC4A4_uc003hfz.2_Splice_Site_p.S1034_splice|SLC4A4_uc003hgc.3_Splice_Site_p.S990_splice|SLC4A4_uc010iid.2_Splice_Site_p.S238_splice	NM_001098484	NP_001091954			solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	72994607	72994607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72994607C>A	uc003hgg.2	+	2	703	c.605C>A	c.(604-606)CCT>CAT	p.P202H	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.P103H|NPFFR2_uc003hgh.2_Missense_Mutation_p.P100H	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	202	Helical; Name=2; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73943171	73943171	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73943171T>C	uc003hgp.2	-	32	7605	c.7488A>G	c.(7486-7488)CAA>CAG	p.Q2496Q	ANKRD17_uc003hgo.2_Silent_p.Q2383Q|ANKRD17_uc003hgq.2_Silent_p.Q2245Q|ANKRD17_uc003hgr.2_Silent_p.Q2495Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2496					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73956669	73956669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73956669T>A	uc003hgp.2	-	29	6793	c.6676A>T	c.(6676-6678)ACA>TCA	p.T2226S	ANKRD17_uc003hgo.2_Missense_Mutation_p.T2113S|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1975S|ANKRD17_uc003hgr.2_Missense_Mutation_p.T2225S	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2226					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957601	73957601	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957601C>T	uc003hgp.2	-	29	5861	c.5744G>A	c.(5743-5745)GGT>GAT	p.G1915D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G1802D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1664D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1914D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1915					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957799	73957799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957799G>A	uc003hgp.2	-	29	5663	c.5546C>T	c.(5545-5547)GCC>GTC	p.A1849V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1736V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1598V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1848V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1849					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005463	74005463	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005463G>A	uc003hgp.2	-	15	2987	c.2870C>T	c.(2869-2871)GCG>GTG	p.A957V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A844V|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A957V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A522V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	957	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005740	74005740	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005740T>A	uc003hgp.2	-	15	2710	c.2593A>T	c.(2593-2595)ATT>TTT	p.I865F	ANKRD17_uc003hgo.2_Missense_Mutation_p.I752F|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.I865F|ANKRD17_uc011cbd.1_Missense_Mutation_p.I430F	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	865	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74007530	74007530	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74007530T>C	uc003hgp.2	-	14	2377	c.2260A>G	c.(2260-2262)ATG>GTG	p.M754V	ANKRD17_uc003hgo.2_Missense_Mutation_p.M641V|ANKRD17_uc003hgq.2_Missense_Mutation_p.M754V|ANKRD17_uc003hgr.2_Missense_Mutation_p.M754V|ANKRD17_uc011cbd.1_Missense_Mutation_p.M319V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	754					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ALB	213	broad.mit.edu	37	4	74275073	74275073	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74275073T>A	uc003hgs.3	+	5	557	c.484T>A	c.(484-486)TAC>AAC	p.Y162N	ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.Y162N|ALB_uc010iii.2_Missense_Mutation_p.Y47N|ALB_uc003hgu.3_Missense_Mutation_p.Y12N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.Y52N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	162	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
AFM	173	broad.mit.edu	37	4	74357801	74357801	+	Silent	SNP	G	A	A	rs141061547		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74357801G>A	uc003hhb.2	+	8	1087	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	352	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76582913	76582913	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76582913T>A	uc003hir.2	-	4	344	c.179A>T	c.(178-180)GAT>GTT	p.D60V	G3BP2_uc003his.2_Missense_Mutation_p.D60V|G3BP2_uc003hit.2_Missense_Mutation_p.D60V	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	60	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76731585	76731585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76731585G>A	uc003hiu.2	+	21	2651	c.2476G>A	c.(2476-2478)GCA>ACA	p.A826T	USO1_uc003hiv.2_Missense_Mutation_p.A668T|USO1_uc003hiw.2_Missense_Mutation_p.A661T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	826	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76734383	76734383	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76734383T>A	uc003hiu.2	+	23	2999	c.2824T>A	c.(2824-2826)TCT>ACT	p.S942T	USO1_uc003hiv.2_Missense_Mutation_p.S784T|USO1_uc003hiw.2_Missense_Mutation_p.S777T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	942	Asp/Glu-rich (acidic).			S->D: Decreased association with Golgi membranes.|S->A: Loss of phosphorylation. Promotes association with Golgi membranes.	intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76842211	76842211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76842211A>G	uc003hjb.2	-	6	796	c.732T>C	c.(730-732)GCT>GCC	p.A244A	NAAA_uc003hja.2_Silent_p.A244A|NAAA_uc003hjc.3_Silent_p.A244A|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.A143A	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	244					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1																		---	---	---	---
ART3	419	broad.mit.edu	37	4	77003397	77003397	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77003397A>G	uc003hjo.2	+	3	609	c.490A>G	c.(490-492)ACA>GCA	p.T164A	ART3_uc003hji.2_Missense_Mutation_p.T164A|ART3_uc003hjj.2_Missense_Mutation_p.T164A|ART3_uc003hjk.2_Missense_Mutation_p.T164A|ART3_uc010ija.1_Missense_Mutation_p.T164A|ART3_uc003hjn.2_Missense_Mutation_p.T164A|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.T134A|ART3_uc010ijc.2_Missense_Mutation_p.T134A|ART3_uc010ijd.2_Missense_Mutation_p.T134A	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	164					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NUP54	53371	broad.mit.edu	37	4	77057529	77057529	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77057529G>A	uc003hjs.2	-	4	460	c.332C>T	c.(331-333)CCT>CTT	p.P111L	NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Missense_Mutation_p.P63L|NUP54_uc003hjt.2_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	111	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2																		---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677703	77677703	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77677703C>T	uc011cbx.1	+	8	5764	c.4811C>T	c.(4810-4812)TCT>TTT	p.S1604F	SHROOM3_uc003hkg.2_Missense_Mutation_p.S1382F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1604					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---
ANKRD56	345079	broad.mit.edu	37	4	77817430	77817430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77817430G>A	uc003hki.2	-	1	1573	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	525											0																		---	---	---	---
SEPT11	55752	broad.mit.edu	37	4	77926846	77926846	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77926846C>T	uc003hkj.2	+	3	397	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SEPT11_uc010ijh.1_Missense_Mutation_p.R71W|SEPT11_uc011cca.1_Missense_Mutation_p.R89W	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	79					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79367983	79367983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79367983G>A	uc003hlb.2	+	43	6399	c.5959G>A	c.(5959-5961)GAC>AAC	p.D1987N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1986	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79461776	79461776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79461776C>T	uc003hlb.2	+	74	11977	c.11537C>T	c.(11536-11538)GCT>GTT	p.A3846V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3841	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81188238	81188238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81188238G>A	uc003hmd.2	+	1	497	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	FGF5_uc003hme.2_Missense_Mutation_p.R87Q	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	87					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967100	81967100	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967100C>T	uc003hmg.3	+	2	845	c.525C>T	c.(523-525)AAC>AAT	p.N175N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967414	81967414	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967414C>T	uc003hmg.3	+	2	1159	c.839C>T	c.(838-840)GCC>GTC	p.A280V		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	280					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82096046	82096046	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82096046T>G	uc003hmh.2	-	2	543	c.529A>C	c.(529-531)ATC>CTC	p.I177L	PRKG2_uc011cch.1_Missense_Mutation_p.I177L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	177	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7																		---	---	---	---
ENOPH1	58478	broad.mit.edu	37	4	83378162	83378162	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83378162A>G	uc003hmv.2	+	5	874	c.617A>G	c.(616-618)AAC>AGC	p.N206S	ENOPH1_uc003hmw.2_Missense_Mutation_p.N118S|ENOPH1_uc003hmx.2_Missense_Mutation_p.N60S	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	206					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0																		---	---	---	---
MRPS18C	51023	broad.mit.edu	37	4	84379541	84379541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84379541T>C	uc003hor.3	+	3	306	c.193T>C	c.(193-195)TGT>CGT	p.C65R	HELQ_uc003hom.2_5'Flank|HELQ_uc010ikb.2_5'Flank|HELQ_uc003hol.3_5'Flank|HELQ_uc010ikc.2_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank|MRPS18C_uc011ccu.1_Missense_Mutation_p.C65R	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)																---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414655	85414655	+	Silent	SNP	G	A	A	rs140353706	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85414655G>A	uc003hpa.1	-	3	897	c.891C>T	c.(889-891)GCC>GCT	p.A297A		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	297					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)														---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85552990	85552990	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85552990T>A	uc011ccv.1	+	6	1097	c.599T>A	c.(598-600)CTG>CAG	p.L200Q	CDS1_uc010ike.1_Missense_Mutation_p.L4Q	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	200	Helical; (Potential).				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612938	85612938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612938T>C	uc003hpd.2	-	60	9458	c.9050A>G	c.(9049-9051)GAA>GGA	p.E3017G	WDFY3_uc003hpe.1_Missense_Mutation_p.E628G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3017						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612945	85612945	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612945A>T	uc003hpd.2	-						WDFY3_uc003hpe.1_Intron	NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85657439	85657439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85657439G>A	uc003hpd.2	-	42	7207	c.6799C>T	c.(6799-6801)CCC>TCC	p.P2267S	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2267						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85658471	85658471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85658471A>T	uc003hpd.2	-	41	7031	c.6623T>A	c.(6622-6624)ATA>AAA	p.I2208K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2208						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85687073	85687073	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85687073A>G	uc003hpd.2	-	32	5486	c.5078T>C	c.(5077-5079)GTC>GCC	p.V1693A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1693						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85707196	85707196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85707196G>A	uc003hpd.2	-	24	4406	c.3998C>T	c.(3997-3999)TCT>TTT	p.S1333F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1333						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85771148	85771148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85771148T>C	uc003hpd.2	-	5	619	c.211A>G	c.(211-213)ACA>GCA	p.T71A	WDFY3_uc003hpf.2_Missense_Mutation_p.T71A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	71						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916261	86916261	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916261G>A	uc003hpk.2	+	9	1903	c.1454G>A	c.(1453-1455)GGC>GAC	p.G485D	ARHGAP24_uc003hpl.2_Missense_Mutation_p.G390D|ARHGAP24_uc010ikf.2_Missense_Mutation_p.G400D|ARHGAP24_uc003hpm.2_Missense_Mutation_p.G392D	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	485					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916682	86916682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916682T>C	uc003hpk.2	+	9	2324	c.1875T>C	c.(1873-1875)AGT>AGC	p.S625S	ARHGAP24_uc003hpl.2_Silent_p.S530S|ARHGAP24_uc010ikf.2_Silent_p.S540S|ARHGAP24_uc003hpm.2_Silent_p.S532S	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	625					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86950338	86950338	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86950338G>A	uc003hpq.2	-						MAPK10_uc010ikg.2_Intron|MAPK10_uc003hpr.2_Intron|MAPK10_uc003hps.2_Intron|MAPK10_uc003hpt.2_Intron|MAPK10_uc003hpu.2_Intron|MAPK10_uc003hpv.2_Intron|MAPK10_uc003hpn.2_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Intron|MAPK10_uc003hpp.2_Intron	NM_138982	NP_620448			mitogen-activated protein kinase 10 isoform 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87693926	87693926	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87693926T>C	uc003hpz.2	+						PTPN13_uc003hpy.2_Intron|PTPN13_uc003hqa.2_Intron|PTPN13_uc003hqb.2_Intron|PTPN13_uc003hqc.1_Intron	NM_080683	NP_542414			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87694086	87694086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87694086A>G	uc003hpz.2	+	32	5804	c.5324A>G	c.(5323-5325)GAA>GGA	p.E1775G	PTPN13_uc003hpy.2_Missense_Mutation_p.E1780G|PTPN13_uc003hqa.2_Missense_Mutation_p.E1756G|PTPN13_uc003hqb.2_Missense_Mutation_p.E1584G|PTPN13_uc003hqc.1_Missense_Mutation_p.E141G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1775						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
C4orf36	132989	broad.mit.edu	37	4	87809323	87809323	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87809323C>T	uc003hqe.3	-	3	484	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	57											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)														---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87967930	87967930	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87967930G>T	uc003hqj.3	+	3	629	c.222G>T	c.(220-222)AAG>AAT	p.K74N	AFF1_uc011ccx.1_Missense_Mutation_p.K15N|AFF1_uc003hqh.1_Missense_Mutation_p.K81N|AFF1_uc011ccy.1_Missense_Mutation_p.K81N|AFF1_uc011ccz.1_Missense_Mutation_p.K81N|AFF1_uc003hqk.3_Missense_Mutation_p.K74N|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	74						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88055677	88055677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88055677A>G	uc003hqj.3	+	19	3749	c.3342A>G	c.(3340-3342)GTA>GTG	p.V1114V	AFF1_uc011ccz.1_Silent_p.V1122V|AFF1_uc003hqk.3_Silent_p.V1115V|AFF1_uc011cda.1_Silent_p.V753V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1114						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88394950	88394950	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88394950T>C	uc010ikm.2	-	12	2544	c.1972A>G	c.(1972-1974)ATA>GTA	p.I658V	SPARCL1_uc011cdc.1_Missense_Mutation_p.I533V|SPARCL1_uc003hqs.3_Missense_Mutation_p.I658V|SPARCL1_uc011cdd.1_Missense_Mutation_p.I533V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	658					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)														---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535299	88535299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88535299T>C	uc003hqu.2	+	5	1605	c.1485T>C	c.(1483-1485)TCT>TCC	p.S495S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	495	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88731774	88731774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88731774G>T	uc003hqx.3	+	6	361	c.263G>T	c.(262-264)GGA>GTA	p.G88V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	88	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732877	88732877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88732877G>A	uc003hqx.3	+	7	867	c.769G>A	c.(769-771)GTT>ATT	p.V257I		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	257					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88964569	88964569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88964569T>C	uc003hre.2	+	5	1345	c.1279T>C	c.(1279-1281)TCA>CCA	p.S427P	PKD2_uc011cdf.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	427	Extracellular (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)														---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89384765	89384765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89384765A>G	uc003hrt.2	+	5	924	c.771A>G	c.(769-771)CTA>CTG	p.L257L		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	257	RCC1 3.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89577147	89577147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89577147T>C	uc003hrw.1	+	9	1196	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	HERC3_uc003hrv.2_Missense_Mutation_p.Y344H|HERC3_uc011cdn.1_Missense_Mutation_p.Y226H|HERC3_uc011cdo.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	344	RCC1 7.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89588651	89588651	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89588651T>C	uc003hrw.1	+						HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421			hect domain and RLD 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89668866	89668866	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89668866C>T	uc003hse.1	-	18	2506	c.2298G>A	c.(2296-2298)AAG>AAA	p.K766K	FAM13A_uc003hsa.1_Silent_p.K237K|FAM13A_uc003hsb.1_Silent_p.K440K|FAM13A_uc003hsd.1_Silent_p.K440K|FAM13A_uc003hsc.1_Silent_p.K426K|FAM13A_uc011cdq.1_Silent_p.K412K|FAM13A_uc003hsf.1_Silent_p.K352K|FAM13A_uc003hsg.1_Silent_p.K237K	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	766					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
TIGD2	166815	broad.mit.edu	37	4	90034768	90034768	+	Missense_Mutation	SNP	G	A	A	rs147964825		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90034768G>A	uc003hsk.2	+	1	801	c.643G>A	c.(643-645)GCA>ACA	p.A215T	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	215	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)														---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94690472	94690472	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94690472C>T	uc011cdt.1	+	15	2730	c.2472C>T	c.(2470-2472)GGC>GGT	p.G824G	GRID2_uc011cdu.1_Silent_p.G729G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)													---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95162126	95162126	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95162126A>T	uc003htc.3	+	6	929	c.674A>T	c.(673-675)GAT>GTT	p.D225V	SMARCAD1_uc003htb.3_Missense_Mutation_p.D225V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D225V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D88V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	225					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95174135	95174135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95174135C>T	uc003htc.3	+	9	1513	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	SMARCAD1_uc003htb.3_Missense_Mutation_p.P420S|SMARCAD1_uc003htd.3_Missense_Mutation_p.P420S|SMARCAD1_uc010ila.2_Missense_Mutation_p.P283S|SMARCAD1_uc011cdw.1_5'Flank	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	420					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95496995	95496995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95496995T>C	uc003hti.2	+	5	671	c.520T>C	c.(520-522)TTC>CTC	p.F174L	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.F52L	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	174					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95575695	95575695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95575695T>C	uc003hti.2	+	10	1519	c.1368T>C	c.(1366-1368)ATT>ATC	p.I456I	PDLIM5_uc011cdx.1_Silent_p.I353I|PDLIM5_uc003hth.2_Silent_p.I347I|PDLIM5_uc003htj.2_Silent_p.I131I|PDLIM5_uc003htk.2_Silent_p.I485I|PDLIM5_uc011cdy.1_Silent_p.I334I|PDLIM5_uc003htl.2_Silent_p.I131I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	456	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96025677	96025677	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96025677C>T	uc003htm.3	+	4	376	c.102C>T	c.(100-102)TGC>TGT	p.C34C	BMPR1B_uc010ilb.2_Silent_p.C34C|BMPR1B_uc003htn.3_Silent_p.C34C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	34	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96035907	96035907	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96035907T>C	uc003htm.3	+	5	454	c.180T>C	c.(178-180)GAT>GAC	p.D60D	BMPR1B_uc010ilb.2_Silent_p.D60D|BMPR1B_uc003htn.3_Silent_p.D60D	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	60	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761865	96761865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96761865T>C	uc003htr.3	+	1	627	c.564T>C	c.(562-564)TGT>TGC	p.C188C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	188					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)													---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99969899	99969899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99969899G>A	uc003huf.3	+	9	920	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
ADH7	131	broad.mit.edu	37	4	100341722	100341722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100341722T>C	uc003huv.1	-	6	928	c.829A>G	c.(829-831)ACC>GCC	p.T277A		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	277					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)													---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522814	100522814	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100522814G>A	uc003hvc.3	+	11	1543	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	MTTP_uc011cej.1_Missense_Mutation_p.M456I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	429	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100824976	100824976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100824976A>T	uc003hvl.2	-	7	1073	c.922T>A	c.(922-924)TAT>AAT	p.Y308N	DNAJB14_uc003hvk.2_Missense_Mutation_p.Y223N|DNAJB14_uc010ili.2_Missense_Mutation_p.Y241N	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	308					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100844339	100844339	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100844339T>C	uc003hvl.2	-	3	460	c.309A>G	c.(307-309)ATA>ATG	p.I103M	DNAJB14_uc003hvk.2_Missense_Mutation_p.I18M|DNAJB14_uc010ili.2_Missense_Mutation_p.I36M	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	103					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108899	101108899	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108899C>A	uc003hvq.2	-	3	720	c.517G>T	c.(517-519)GGA>TGA	p.G173*		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	173					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108907	101108907	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108907A>G	uc003hvq.2	-	3	712	c.509T>C	c.(508-510)CTC>CCC	p.L170P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	170					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108927	101108927	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108927A>C	uc003hvq.2	-	3	692	c.489T>G	c.(487-489)GGT>GGG	p.G163G		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	163					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108948	101108948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108948A>G	uc003hvq.2	-	3	671	c.468T>C	c.(466-468)AGT>AGC	p.S156S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	156					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500113	103500113	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500113T>G	uc011ceq.1	+	8	1111	c.644T>G	c.(643-645)ATG>AGG	p.M215R	NFKB1_uc011cep.1_Missense_Mutation_p.M216R|NFKB1_uc011cer.1_Missense_Mutation_p.M35R	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	215	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500181	103500181	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500181G>A	uc011ceq.1	+	8	1179	c.712G>A	c.(712-714)GCC>ACC	p.A238T	NFKB1_uc011cep.1_Missense_Mutation_p.A239T|NFKB1_uc011cer.1_Missense_Mutation_p.A58T	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	238	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103501757	103501757	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103501757G>T	uc011ceq.1	+	9	1260	c.793G>T	c.(793-795)GGG>TGG	p.G265W	NFKB1_uc011cep.1_Missense_Mutation_p.G266W|NFKB1_uc011cer.1_Missense_Mutation_p.G85W	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	265	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103514652	103514652	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103514652T>C	uc011ceq.1	+	12	1601	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	NFKB1_uc011cep.1_Silent_p.S379S|NFKB1_uc011cer.1_Silent_p.S198S	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	378	GRR.|Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103527752	103527752	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103527752T>G	uc011ceq.1	+	17	2316	c.1849T>G	c.(1849-1851)TCT>GCT	p.S617A	NFKB1_uc011cep.1_Missense_Mutation_p.S618A|NFKB1_uc011cer.1_Missense_Mutation_p.S437A	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	617	Interaction with CFLAR.|ANK 3.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103595084	103595084	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103595084G>T	uc003hwg.2	-	8	1204	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T	MANBA_uc011ces.1_Silent_p.T311T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	368					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103827697	103827697	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103827697A>G	uc003hww.2	-	10	1313	c.1191T>C	c.(1189-1191)ATT>ATC	p.I397I	NHEDC1_uc003hwu.2_Silent_p.I397I|NHEDC1_uc010ilm.2_Silent_p.I164I|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Silent_p.I170I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	397						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103870469	103870469	+	Silent	SNP	T	A	A	rs139729203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103870469T>A	uc003hww.2	-	4	449	c.327A>T	c.(325-327)GGA>GGT	p.G109G	NHEDC1_uc003hwu.2_Silent_p.G109G|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	109	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104059586	104059586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104059586T>C	uc003hxb.1	-	39	6315	c.6225A>G	c.(6223-6225)GTA>GTG	p.V2075V	CENPE_uc003hxc.1_Silent_p.V1954V|CENPE_uc003hxd.1_RNA	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2075	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104080340	104080340	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104080340A>G	uc003hxb.1	-	22	2518	c.2428T>C	c.(2428-2430)TCG>CCG	p.S810P	CENPE_uc003hxc.1_Missense_Mutation_p.S785P	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	810	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104101599	104101599	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104101599T>C	uc003hxb.1	-	13	1201	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	CENPE_uc003hxc.1_Missense_Mutation_p.M371V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	371	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104106977	104106977	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104106977T>C	uc003hxb.1	-	9	825	c.735A>G	c.(733-735)ACA>ACG	p.T245T	CENPE_uc003hxc.1_Silent_p.T245T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	245	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104577457	104577457	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104577457A>C	uc003hxe.1	-	3	925	c.782T>G	c.(781-783)CTC>CGC	p.L261R		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	261	Helical; Name=5; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)														---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155657	106155657	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106155657G>A	uc003hxk.2	+	3	944	c.558G>A	c.(556-558)GAG>GAA	p.E186E	TET2_uc011cez.1_Silent_p.E207E|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.E186E|TET2_uc003hxi.1_Silent_p.E186E	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	186					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
TET2	54790	broad.mit.edu	37	4	106156631	106156631	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106156631A>G	uc003hxk.2	+	3	1918	c.1532A>G	c.(1531-1533)CAC>CGC	p.H511R	TET2_uc011cez.1_Missense_Mutation_p.H532R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H511R|TET2_uc003hxi.1_Missense_Mutation_p.H511R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	511					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106848532	106848532	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106848532G>A	uc003hya.2	+	3	417	c.212G>A	c.(211-213)GGG>GAG	p.G71E	NPNT_uc011cfc.1_Missense_Mutation_p.G88E|NPNT_uc011cfd.1_Missense_Mutation_p.G71E|NPNT_uc011cfe.1_Missense_Mutation_p.G71E|NPNT_uc010ilt.1_Missense_Mutation_p.G71E|NPNT_uc011cff.1_Missense_Mutation_p.G71E|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	71	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106861286	106861286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106861286T>C	uc003hya.2	+	6	765	c.560T>C	c.(559-561)GTC>GCC	p.V187A	NPNT_uc011cfc.1_Missense_Mutation_p.V204A|NPNT_uc011cfd.1_Missense_Mutation_p.V217A|NPNT_uc011cfe.1_Missense_Mutation_p.V217A|NPNT_uc010ilt.1_Missense_Mutation_p.V187A|NPNT_uc011cff.1_Missense_Mutation_p.V187A|NPNT_uc010ilu.1_Missense_Mutation_p.V83A	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	187	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108566127	108566127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108566127C>T	uc003hyk.2	-	10	1421	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	446	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
HADH	3033	broad.mit.edu	37	4	108954337	108954337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108954337G>A	uc003hyq.2	+	7	864	c.715G>A	c.(715-717)GCA>ACA	p.A239T	HADH_uc010ilx.2_Missense_Mutation_p.A256T|HADH_uc010ily.2_Missense_Mutation_p.A62T|HADH_uc003hyr.2_Missense_Mutation_p.A243T	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	239					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)													---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110427546	110427546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110427546A>G	uc003hzk.2	+	7	1606	c.1551A>G	c.(1549-1551)CCA>CCG	p.P517P	SEC24B_uc003hzl.2_Silent_p.P482P|SEC24B_uc011cfp.1_Silent_p.P547P|SEC24B_uc011cfq.1_Silent_p.P516P|SEC24B_uc011cfr.1_Silent_p.P481P	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	517					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)														---	---	---	---
CFI	3426	broad.mit.edu	37	4	110685814	110685814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110685814T>C	uc003hzr.3	-	3	569	c.361A>G	c.(361-363)ACA>GCA	p.T121A	CFI_uc003hzq.2_5'Flank|CFI_uc011cft.1_Missense_Mutation_p.T121A|CFI_uc003hzs.3_Missense_Mutation_p.T121A	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	121	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)														---	---	---	---
EGF	1950	broad.mit.edu	37	4	110925696	110925696	+	Missense_Mutation	SNP	C	A	A	rs121434567		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110925696C>A	uc003hzy.3	+	22	3661	c.3209C>A	c.(3208-3210)CCT>CAT	p.P1070H	EGF_uc011cfu.1_Missense_Mutation_p.P1028H|EGF_uc011cfv.1_Missense_Mutation_p.P1029H|EGF_uc010imk.2_Missense_Mutation_p.P218H	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1070	Cytoplasmic (Potential).		P -> L (in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation).		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)													---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111474605	111474605	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111474605T>C	uc003iab.3	+	18	2978	c.2636T>C	c.(2635-2637)GTC>GCC	p.V879A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	879	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113353667	113353667	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113353667G>A	uc003iap.3	+	11	3243	c.2964G>A	c.(2962-2964)AGG>AGA	p.R988R	ALPK1_uc003ian.3_Silent_p.R988R|ALPK1_uc011cfx.1_Silent_p.R910R|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.R816R	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	988							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113362087	113362087	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113362087A>G	uc003iap.3	+	15	3832	c.3553A>G	c.(3553-3555)AAT>GAT	p.N1185D	ALPK1_uc003ian.3_Missense_Mutation_p.N1185D|ALPK1_uc011cfx.1_Missense_Mutation_p.N1107D|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.N1013D	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1185	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
MIR302A	407028	broad.mit.edu	37	4	113569359	113569359	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113569359C>G	hsa-mir-302a|MI0000738	-			c.49C>G			LARP7_uc003iay.2_Intron|LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank|MIR302D_hsa-mir-302d|MI0000774_5'Flank|uc011cfz.1_RNA																	0																		---	---	---	---
ANK2	287	broad.mit.edu	37	4	114276808	114276808	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114276808A>G	uc003ibe.3	+	38	7134	c.7034A>G	c.(7033-7035)GAG>GGG	p.E2345G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2360G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277375	114277375	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114277375G>T	uc003ibe.3	+	38	7701	c.7601G>T	c.(7600-7602)AGC>ATC	p.S2534I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2549I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2501					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280116	114280116	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114280116A>G	uc003ibe.3	+	38	10442	c.10342A>G	c.(10342-10344)AGC>GGC	p.S3448G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S750G|ANK2_uc011cgb.1_Missense_Mutation_p.S3463G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3415					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114294255	114294255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114294255A>G	uc003ibe.3	+	44	11720	c.11620A>G	c.(11620-11622)ATG>GTG	p.M3874V	ANK2_uc003ibd.3_Missense_Mutation_p.M1780V|ANK2_uc003ibf.3_Missense_Mutation_p.M1789V|ANK2_uc011cgc.1_Missense_Mutation_p.M965V|ANK2_uc003ibg.3_Missense_Mutation_p.M804V|ANK2_uc003ibh.3_Missense_Mutation_p.M494V|ANK2_uc011cgd.1_Missense_Mutation_p.M1176V|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3841					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114473243	114473243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114473243T>C	uc003ibi.2	-	5	1144	c.285A>G	c.(283-285)GGA>GGG	p.G95G	CAMK2D_uc003ibj.2_Silent_p.G95G|CAMK2D_uc003ibk.2_Silent_p.G95G|CAMK2D_uc003ibo.3_Silent_p.G95G|CAMK2D_uc003ibm.2_Silent_p.G95G|CAMK2D_uc003ibn.2_Silent_p.G95G|CAMK2D_uc003ibl.2_Silent_p.G95G	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	95	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767046	115767046	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115767046A>G	uc003ibu.2	-	10	2727	c.2048T>C	c.(2047-2049)CTT>CCT	p.L683P	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	683	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115998016	115998016	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115998016T>A	uc003ibu.2	-	2	856	c.177A>T	c.(175-177)CCA>CCT	p.P59P	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	59	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005579	118005579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:118005579A>G	uc003ibv.3	-	1	1158	c.971T>C	c.(970-972)GTA>GCA	p.V324A		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	324	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631199	119631199	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631199A>G	uc003icf.2	+	11	1229	c.1113A>G	c.(1111-1113)GCA>GCG	p.A371A	METTL14_uc003icg.2_Silent_p.A333A	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	371						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631225	119631225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631225C>T	uc003icf.2	+	11	1255	c.1139C>T	c.(1138-1140)GCT>GTT	p.A380V	METTL14_uc003icg.2_Missense_Mutation_p.A342V	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	380						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644689	119644689	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644689A>G	uc003ici.3	-	23	3352	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.I1028T	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1027					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644736	119644736	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644736G>A	uc003ici.3	-	23	3305	c.3033C>T	c.(3031-3033)TAC>TAT	p.Y1011Y	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119686061	119686061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119686061A>G	uc003ici.3	-	10	1464	c.1192T>C	c.(1192-1194)TAT>CAT	p.Y398H	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399H|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119947952	119947952	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119947952C>A	uc003icm.3	+	3	624	c.428C>A	c.(427-429)GCT>GAT	p.A143D	SYNPO2_uc010ina.2_Missense_Mutation_p.A143D|SYNPO2_uc010inb.2_Missense_Mutation_p.A143D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A71D	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	143						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
MYOZ2	51778	broad.mit.edu	37	4	120107215	120107215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120107215T>G	uc003icp.3	+	6	868	c.655T>G	c.(655-657)TTT>GTT	p.F219V		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	219							protein phosphatase 2B binding				0																		---	---	---	---
USP53	54532	broad.mit.edu	37	4	120181691	120181691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120181691C>T	uc003ics.3	+	10	1771	c.705C>T	c.(703-705)CGC>CGT	p.R235R	USP53_uc003icr.3_Silent_p.R235R|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	235					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121719441	121719441	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121719441A>T	uc003idn.2	-	10	1419	c.1169T>A	c.(1168-1170)GTT>GAT	p.V390D	PRDM5_uc003ido.2_Missense_Mutation_p.V359D|PRDM5_uc010ine.2_Missense_Mutation_p.V359D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	390	C2H2-type 8.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121742449	121742449	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121742449C>G	uc003idn.2	-	4	602	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	PRDM5_uc003ido.2_Missense_Mutation_p.E118Q|PRDM5_uc010ine.2_Missense_Mutation_p.E118Q|PRDM5_uc010inf.2_Missense_Mutation_p.E118Q	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	118	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
C4orf31	79625	broad.mit.edu	37	4	121957507	121957507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121957507G>A	uc003idq.1	-	4	2146	c.1619C>T	c.(1618-1620)TCT>TTT	p.S540F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	540	Fibronectin type-III 2.										0																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122075702	122075702	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122075702A>G	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron|TNIP3_uc010ini.2_Missense_Mutation_p.S166P	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122728787	122728787	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122728787G>A	uc003iea.2	+						EXOSC9_uc003idz.2_Intron|EXOSC9_uc003ieb.2_Intron|EXOSC9_uc010inp.1_Intron	NM_005033	NP_005024			exosome component 9 isoform 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122782845	122782845	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122782845T>A	uc003ied.2	-						BBS7_uc003iee.1_Intron|BBS7_uc010inq.1_Intron	NM_176824	NP_789794			Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122833021	122833021	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122833021A>G	uc003ieg.2	-						TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Intron|TRPC3_uc011cgl.1_Intron	NM_001130698	NP_001124170			transient receptor potential cation channel,						axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107245	123107245	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123107245T>C	uc003ieh.2	+	5	458	c.413T>C	c.(412-414)GTC>GCC	p.V138A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	138					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123109221	123109221	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123109221T>G	uc003ieh.2	+	7	844	c.799T>G	c.(799-801)TAT>GAT	p.Y267D	KIAA1109_uc003iei.1_Missense_Mutation_p.Y21D	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	267					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123176118	123176118	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123176118T>C	uc003ieh.2	+						KIAA1109_uc003iel.1_Intron|KIAA1109_uc003iek.2_Intron	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123184100	123184100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123184100G>A	uc003ieh.2	+	41	6989	c.6944G>A	c.(6943-6945)AGC>AAC	p.S2315N	KIAA1109_uc003iel.1_Missense_Mutation_p.S250N|KIAA1109_uc003iek.2_Missense_Mutation_p.S934N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2315					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123229282	123229282	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123229282G>A	uc003ieh.2	+	56	10065	c.10020G>A	c.(10018-10020)CTG>CTA	p.L3340L	KIAA1109_uc003iel.1_Silent_p.L1275L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3340					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123254921	123254921	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123254921A>G	uc003ieh.2	+	66	11648	c.11603A>G	c.(11602-11604)GAC>GGC	p.D3868G	KIAA1109_uc003iem.2_Missense_Mutation_p.D259G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3868					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123257435	123257435	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123257435T>A	uc003ieh.2	+	68	11982	c.11937T>A	c.(11935-11937)AGT>AGA	p.S3979R	KIAA1109_uc003iem.2_Missense_Mutation_p.S335R|KIAA1109_uc003ien.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3979					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302219	123302219	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123302219T>A	uc003ieo.2	+	4	477	c.245T>A	c.(244-246)ATA>AAA	p.I82K	ADAD1_uc003iep.2_Missense_Mutation_p.I82K|ADAD1_uc003ieq.2_Missense_Mutation_p.I64K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	82					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123329057	123329057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123329057T>C	uc003ieo.2	+						ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Intron	NM_139243	NP_640336			adenosine deaminase domain containing 1						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123838694	123838694	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123838694C>T	uc003iew.2	-	2	436	c.404G>A	c.(403-405)AGA>AAA	p.R135K	NUDT6_uc003iex.2_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	135						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123843587	123843587	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123843587C>A	uc003iew.2	-	1	173	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	47						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123844395	123844395	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123844395C>T	uc003iez.3	+	1	171	c.98C>T	c.(97-99)CCT>CTT	p.P33L	SPATA5_uc003iey.2_Missense_Mutation_p.P33L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	33					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590911	125590911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125590911C>T	uc003ifg.3	-	3	3787	c.3521G>A	c.(3520-3522)CGG>CAG	p.R1174Q	ANKRD50_uc011cgo.1_Missense_Mutation_p.R995Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R1174Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1174	Ser-rich.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591399	125591399	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591399T>C	uc003ifg.3	-	3	3299	c.3033A>G	c.(3031-3033)GAA>GAG	p.E1011E	ANKRD50_uc011cgo.1_Silent_p.E832E|ANKRD50_uc010inw.2_Silent_p.E1011E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1011	ANK 17.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591412	125591412	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591412G>T	uc003ifg.3	-	3	3286	c.3020C>A	c.(3019-3021)GCT>GAT	p.A1007D	ANKRD50_uc011cgo.1_Missense_Mutation_p.A828D|ANKRD50_uc010inw.2_Missense_Mutation_p.A1007D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1007	ANK 16.									central_nervous_system(1)	1																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239682	126239682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239682A>G	uc003ifj.3	+	1	2116	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	706	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241702	126241702	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126241702A>T	uc003ifj.3	+	1	4136	c.4136A>T	c.(4135-4137)GAC>GTC	p.D1379V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1379	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371457	126371457	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126371457G>A	uc003ifj.3	+	9	9286	c.9286G>A	c.(9286-9288)GCA>ACA	p.A3096T	FAT4_uc011cgp.1_Missense_Mutation_p.A1394T|FAT4_uc003ifi.1_Missense_Mutation_p.A574T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3096	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373323	126373323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126373323G>A	uc003ifj.3	+	9	11152	c.11152G>A	c.(11152-11154)GGC>AGC	p.G3718S	FAT4_uc011cgp.1_Missense_Mutation_p.G2016S|FAT4_uc003ifi.1_Missense_Mutation_p.G1196S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3718	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411099	126411099	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126411099A>C	uc003ifj.3	+	17	13122	c.13122A>C	c.(13120-13122)GAA>GAC	p.E4374D	FAT4_uc011cgp.1_Missense_Mutation_p.E2615D|FAT4_uc003ifi.1_Missense_Mutation_p.E1851D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4374	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412663	126412663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126412663C>T	uc003ifj.3	+	17	14686	c.14686C>T	c.(14686-14688)CGC>TGC	p.R4896C	FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4896	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128584698	128584698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128584698T>C	uc003ifk.1	+	4	1001	c.931T>C	c.(931-933)TAT>CAT	p.Y311H	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	311										ovary(1)	1																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128627710	128627710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128627710A>G	uc003ifk.1	+	12	1927	c.1857A>G	c.(1855-1857)GGA>GGG	p.G619G	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	619										ovary(1)	1																		---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128724795	128724795	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128724795T>C	uc003ifm.2	+	7	928	c.675T>C	c.(673-675)ACT>ACC	p.T225T	HSPA4L_uc010iny.1_Silent_p.T184T|HSPA4L_uc011cgr.1_Silent_p.T192T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	225					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129812262	129812262	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129812262G>A	uc003igp.2	-	19	2366	c.1860C>T	c.(1858-1860)ACC>ACT	p.T620T	SCLT1_uc003ign.2_Silent_p.T284T|SCLT1_uc003igo.2_Silent_p.T230T|SCLT1_uc003igq.2_Silent_p.T239T|SCLT1_uc010iob.1_Silent_p.T107T	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	620	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129886438	129886438	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129886438T>G	uc003igp.2	-	11	1319	c.813A>C	c.(811-813)GAA>GAC	p.E271D	SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	271	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129920859	129920859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129920859G>A	uc003igp.2	-	7	1023	c.517C>T	c.(517-519)CAG>TAG	p.Q173*	SCLT1_uc003igo.2_5'Flank|SCLT1_uc003igq.2_Nonsense_Mutation_p.Q173*|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	173	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071888	134071888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134071888G>A	uc003iha.2	+	1	1419	c.593G>A	c.(592-594)CGC>CAC	p.R198H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R198H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073742	134073742	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134073742A>G	uc003iha.2	+	1	3273	c.2447A>G	c.(2446-2448)AAC>AGC	p.N816S	PCDH10_uc003igz.2_Missense_Mutation_p.N816S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	816	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451511	138451511	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451511C>A	uc003ihe.3	-	1	2119	c.1732G>T	c.(1732-1734)GGG>TGG	p.G578W	PCDH18_uc003ihf.3_Missense_Mutation_p.G571W|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G358W|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	578	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
SLC7A11	23657	broad.mit.edu	37	4	139103485	139103485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139103485C>T	uc011chb.1	-	9	1362	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	361	Cytoplasmic (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)													---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140265423	140265423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140265423A>T	uc003ihu.1	+	6	877	c.621A>T	c.(619-621)AGA>AGT	p.R207S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	207					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641423	140641423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140641423C>T	uc003ihz.1	-	7	3208	c.2456G>A	c.(2455-2457)CGA>CAA	p.R819Q	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R287Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	820	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811420	140811420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811420C>T	uc003ihz.1	-	2	1922	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	390					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811851	140811851	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811851C>A	uc003ihz.1	-	2	1491	c.739G>T	c.(739-741)GGT>TGT	p.G247C	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	247					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141310438	141310438	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141310438G>A	uc011chi.1	-	16	1991	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	CLGN_uc003iii.2_Silent_p.S591S	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	591	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141321662	141321662	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141321662T>C	uc011chi.1	-	8	761	c.543A>G	c.(541-543)GGA>GGG	p.G181G	CLGN_uc003iii.2_Silent_p.G181G	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	181	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
RNF150	57484	broad.mit.edu	37	4	142053845	142053845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142053845A>G	uc003iio.1	-	1	772	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	RNF150_uc010iok.1_Missense_Mutation_p.Y40H|RNF150_uc003iip.1_Missense_Mutation_p.Y40H	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	40	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
IL15	3600	broad.mit.edu	37	4	142649144	142649144	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142649144A>G	uc003iis.2	+						IL15_uc003iit.2_Intron|IL15_uc010iol.2_Intron|IL15_uc003iiu.2_Intron	NM_000585	NP_000576			interleukin 15 preproprotein						cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143067143	143067143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143067143C>T	uc003iix.3	-	19	2165	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	INPP4B_uc003iiw.3_Missense_Mutation_p.V524M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V339M|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V395M	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	524					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143181673	143181673	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143181673T>G	uc003iix.3	-	12	1255	c.660A>C	c.(658-660)GGA>GGC	p.G220G	INPP4B_uc003iiw.3_Silent_p.G220G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G35G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G91G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144127279	144127279	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144127279A>G	uc003ijb.2	+	6	1837	c.1303A>G	c.(1303-1305)AGA>GGA	p.R435G	USP38_uc003ija.3_Missense_Mutation_p.R435G|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	435					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)																	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144380563	144380563	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144380563A>G	uc003ije.2	+	7	1970	c.1611A>G	c.(1609-1611)AAA>AAG	p.K537K	GAB1_uc003ijd.2_Silent_p.K567K|GAB1_uc011chq.1_Silent_p.K434K	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	537	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)																	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144468578	144468578	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144468578G>A	uc003ijg.2	+	21	3156	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
GYPA	2993	broad.mit.edu	37	4	145038087	145038087	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:145038087T>G	uc003ijo.3	-	5	393	c.277A>C	c.(277-279)ACA>CCA	p.T93P	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.T60P|GYPA_uc003ijp.3_Missense_Mutation_p.T61P|GYPA_uc010ioq.2_Missense_Mutation_p.T80P|GYPA_uc010ior.2_Missense_Mutation_p.T28P|GYPA_uc010ios.1_RNA	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	93	Helical.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058572	146058572	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146058572G>A	uc003ika.3	-	21					OTUD4_uc003ijz.3_3'UTR	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146059221	146059221	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146059221A>G	uc003ika.3	-	21	2649	c.2511T>C	c.(2509-2511)GAT>GAC	p.D837D	OTUD4_uc003ijz.3_Silent_p.D836D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	901							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146065564	146065564	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146065564G>T	uc003ika.3	-	15	1388	c.1250C>A	c.(1249-1251)GCT>GAT	p.A417D	OTUD4_uc003ijz.3_Missense_Mutation_p.A416D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	481							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146076712	146076712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146076712T>C	uc003ika.3	-						OTUD4_uc003ijz.3_Intron	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146468016	146468016	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146468016C>T	uc003ikc.2	+	5	1353	c.937C>T	c.(937-939)CTG>TTG	p.L313L	SMAD1_uc003ikd.2_Silent_p.L313L|SMAD1_uc010iov.2_Silent_p.L313L|SMAD1_uc011cic.1_Silent_p.L274L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	313	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146770638	146770638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146770638A>G	uc003ikn.2	-	6	2105	c.2057T>C	c.(2056-2058)GTC>GCC	p.V686A	ZNF827_uc003ikm.2_Missense_Mutation_p.V686A|ZNF827_uc010iox.2_Missense_Mutation_p.V336A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146806922	146806922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146806922T>C	uc003ikn.2	-	4	1703	c.1655A>G	c.(1654-1656)GAC>GGC	p.D552G	ZNF827_uc003ikm.2_Missense_Mutation_p.D552G|ZNF827_uc010iox.2_Missense_Mutation_p.D202G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560286	147560286	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147560286C>T	uc003ikv.2	+	1						NM_004575	NP_004566			Brn3b POU domain transcription factor						estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)																	---	---	---	---
PRMT10	90826	broad.mit.edu	37	4	148578932	148578932	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148578932A>G	uc003ilc.2	-						PRMT10_uc003ilb.2_Intron|PRMT10_uc003ild.2_Intron	NM_138364	NP_612373			protein arginine methyltransferase 10							cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148803060	148803060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148803060T>C	uc003ilf.2	+	10	1011	c.1011T>C	c.(1009-1011)TGT>TGC	p.C337C	ARHGAP10_uc003ilg.2_5'UTR	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	337	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148993239	148993239	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148993239G>A	uc003ilf.2	+	23					ARHGAP10_uc003ilg.2_3'UTR|ARHGAP10_uc003ilh.2_3'UTR|ARHGAP10_uc003ili.2_3'UTR	NM_024605	NP_078881			Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
MAB21L2	10586	broad.mit.edu	37	4	151504543	151504543	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151504543G>C	uc003ilw.2	+	1	1467	c.362G>C	c.(361-363)GGC>GCC	p.G121A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	121					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)														---	---	---	---
TIGD4	201798	broad.mit.edu	37	4	153690946	153690946	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153690946G>T	uc003imy.2	-	2	1993	c.1211C>A	c.(1210-1212)GCT>GAT	p.A404D		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	404					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)																	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896633	153896633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153896633T>C	uc003inf.2	+	11	2265	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	730					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)																	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154191569	154191569	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154191569C>A	uc003ing.2	+	2	233	c.32C>A	c.(31-33)CCT>CAT	p.P11H	TRIM2_uc003inh.2_Missense_Mutation_p.P38H|TRIM2_uc003ini.1_Missense_Mutation_p.P29H	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	11						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154216755	154216755	+	Silent	SNP	C	T	T	rs116558260	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154216755C>T	uc003ing.2	+	6	1197	c.996C>T	c.(994-996)GGC>GGT	p.G332G	TRIM2_uc003inh.2_Silent_p.G359G	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	332	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154508908	154508908	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154508908T>G	uc003inm.3	+	15	1546	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	KIAA0922_uc010ipp.2_Silent_p.G499G|KIAA0922_uc010ipq.2_Silent_p.G351G|KIAA0922_uc010ips.1_Missense_Mutation_p.V109G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	498	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625730	154625730	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154625730T>C	uc003inq.2	+	3	1890	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	TLR2_uc003inr.2_Silent_p.D557D|TLR2_uc003ins.2_Silent_p.D557D	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	557	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)																---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156833	155156833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155156833C>T	uc003inw.2	-	25	7606	c.7606G>A	c.(7606-7608)GCC>ACC	p.A2536T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157336	155157336	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155157336T>A	uc003inw.2	-	25	7103	c.7103A>T	c.(7102-7104)GAT>GTT	p.D2368V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2368	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
FGA	2243	broad.mit.edu	37	4	155509977	155509977	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155509977T>C	uc003iod.1	-	3	390	c.332A>G	c.(331-333)GAA>GGA	p.E111G	FGA_uc003ioe.1_Missense_Mutation_p.E111G|FGA_uc003iof.1_Missense_Mutation_p.E111G	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	111	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	A	A	rs121909606		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155510666G>A	uc003iod.1	-	2	161	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156625120	156625120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156625120G>A	uc003iov.2	+	5	828	c.292G>A	c.(292-294)GCA>ACA	p.A98T	GUCY1A3_uc003iou.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqc.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iow.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iox.2_Missense_Mutation_p.A98T|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A98T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	98					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156629407	156629407	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156629407G>T	uc003iov.2	+	6	873	c.337G>T	c.(337-339)GAC>TAC	p.D113Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iow.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iox.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D113Y	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	113					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632185	156632185	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156632185T>A	uc003iov.2	+	7	1404	c.868T>A	c.(868-870)TTC>ATC	p.F290I	GUCY1A3_uc003iou.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.F290I|GUCY1A3_uc003iow.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.F289I|GUCY1A3_uc003iox.2_Missense_Mutation_p.F290I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.F290I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	290					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156723547	156723547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156723547G>A	uc003ipc.2	+	10	1396	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	GUCY1B3_uc011cio.1_Missense_Mutation_p.R432H|GUCY1B3_uc011cip.1_Missense_Mutation_p.R390H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R338H|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R381H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R338H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	410					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156858514	156858514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156858514C>A	uc003ipg.2	-	5	723	c.674G>T	c.(673-675)AGT>ATT	p.S225I		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	225					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284014	158284014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158284014C>T	uc003ipm.3	+	15	2929	c.2470C>T	c.(2470-2472)CTT>TTT	p.L824F	GRIA2_uc011cit.1_Missense_Mutation_p.L777F|GRIA2_uc003ipl.3_Missense_Mutation_p.L824F|GRIA2_uc003ipk.3_Missense_Mutation_p.L777F|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	824	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)													---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159052070	159052070	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159052070T>C	uc003ipp.3	-	4	1672	c.1220A>G	c.(1219-1221)CAA>CGA	p.Q407R	FAM198B_uc003ipq.3_Missense_Mutation_p.Q415R|FAM198B_uc003ipr.3_Missense_Mutation_p.Q407R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	407	Extracellular (Potential).					Golgi membrane|integral to membrane					0																		---	---	---	---
PPID	5481	broad.mit.edu	37	4	159640370	159640370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159640370A>G	uc003iqc.2	-	3	407	c.295T>C	c.(295-297)TAT>CAT	p.Y99H		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	99	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160252876	160252876	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160252876C>A	uc003iqg.3	+	9	1497	c.1187C>A	c.(1186-1188)CCT>CAT	p.P396H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	396	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160264153	160264153	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160264153G>A	uc003iqg.3	+	15	2768	c.2458G>A	c.(2458-2460)GCA>ACA	p.A820T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	820	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393149	164393149	+	Missense_Mutation	SNP	C	T	T	rs140731828		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393149C>T	uc003iqp.3	-	1	1899	c.1738G>A	c.(1738-1740)GTC>ATC	p.V580I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	580						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166159928	166159928	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166159928A>G	uc003irb.2	+	4	519	c.260_splice	c.e4-2	p.G87_splice	KLHL2_uc011cjm.1_Splice_Site_p.G91_splice|KLHL2_uc003irc.2_Splice_Site	NM_007246	NP_009177			kelch-like 2, Mayven isoform 1						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166160009	166160009	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166160009T>C	uc003irb.2	+	4	598	c.339T>C	c.(337-339)TAT>TAC	p.Y113Y	KLHL2_uc011cjm.1_Silent_p.Y117Y|KLHL2_uc003irc.2_Silent_p.Y25Y	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	113	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166232671	166232671	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166232671T>A	uc003irb.2	+	11	1552	c.1293T>A	c.(1291-1293)GCT>GCA	p.A431A	KLHL2_uc011cjm.1_Silent_p.A435A|KLHL2_uc003irc.2_Silent_p.A343A|KLHL2_uc010ira.2_Silent_p.A84A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	431	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166924671	166924671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166924671G>A	uc003irh.1	+	6	1408	c.761G>A	c.(760-762)AGA>AAA	p.R254K	TLL1_uc011cjn.1_Missense_Mutation_p.R254K|TLL1_uc011cjo.1_Missense_Mutation_p.R78K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	254	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167656082	167656082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167656082A>G	uc003iri.1	-	12	1442	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A	SPOCK3_uc011cjp.1_Missense_Mutation_p.V391A|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443A|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314A|SPOCK3_uc003irj.1_Missense_Mutation_p.V431A|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383A|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342A|SPOCK3_uc011cju.1_Missense_Mutation_p.V327A|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336A	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167675702	167675702	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167675702T>A	uc003iri.1	-	9	1038	c.897A>T	c.(895-897)TTA>TTT	p.L299F	SPOCK3_uc011cjp.1_Missense_Mutation_p.L256F|SPOCK3_uc011cjq.1_Missense_Mutation_p.L308F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L179F|SPOCK3_uc003irj.1_Missense_Mutation_p.L296F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L248F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L207F|SPOCK3_uc011cju.1_Missense_Mutation_p.L192F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L201F|SPOCK3_uc003irk.3_Missense_Mutation_p.L296F	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	299					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
ANXA10	11199	broad.mit.edu	37	4	169099117	169099117	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169099117A>G	uc003irm.2	+	8	756	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	ANXA10_uc003irn.2_Missense_Mutation_p.Y76C	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	204	Annexin 3.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176911	169176911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176911C>T	uc003irp.2	-	26	3800	c.3508G>A	c.(3508-3510)GCT>ACT	p.A1170T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1170							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176992	169176992	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176992C>T	uc003irp.2	-	26	3719	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1143							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169294923	169294923	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169294923A>G	uc003irq.3	-	35	4891	c.4670T>C	c.(4669-4671)GTG>GCG	p.V1557A		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1557							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)														---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169433123	169433123	+	Silent	SNP	G	A	A	rs146108255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169433123G>A	uc011cjx.1	+	2	679	c.468G>A	c.(466-468)ACG>ACA	p.T156T	PALLD_uc003iru.2_Silent_p.T156T	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)										Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613350	170613350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170613350C>A	uc003isi.2	+	7	1324	c.815C>A	c.(814-816)GCT>GAT	p.A272D	CLCN3_uc003ish.2_Missense_Mutation_p.A272D|CLCN3_uc011cjz.1_Missense_Mutation_p.A255D|CLCN3_uc011cka.1_Missense_Mutation_p.A272D|CLCN3_uc003isj.1_Missense_Mutation_p.A245D	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	272	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)														---	---	---	---
C4orf27	54969	broad.mit.edu	37	4	170663209	170663209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170663209T>C	uc003isl.3	-	5	612	c.547A>G	c.(547-549)AAT>GAT	p.N183D		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	183						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)														---	---	---	---
AADAT	51166	broad.mit.edu	37	4	171010811	171010811	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:171010811T>C	uc003isr.2	-	1	373	c.31A>G	c.(31-33)AGC>GGC	p.S11G	AADAT_uc003iss.2_Missense_Mutation_p.S11G|AADAT_uc003ist.2_Missense_Mutation_p.S11G	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	11					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177071675	177071675	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177071675T>C	uc003iuj.2	+	17	2463	c.2307T>C	c.(2305-2307)GAT>GAC	p.D769D	WDR17_uc003iuk.2_Silent_p.D745D|WDR17_uc003ium.3_Silent_p.D745D|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'UTR	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	769										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098614	177098614	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177098614A>G	uc003iuj.2	+						WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Intron	NM_170710	NP_733828			WD repeat domain 17 isoform 1											ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183575044	183575044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183575044A>G	uc003ivd.1	+	5	1146	c.1109A>G	c.(1108-1110)AAT>AGT	p.N370S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	370	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183652077	183652077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183652077G>A	uc003ivd.1	+	15	2789	c.2752G>A	c.(2752-2754)GAA>AAA	p.E918K	ODZ3_uc003ive.1_Missense_Mutation_p.E324K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	918	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183659700	183659700	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183659700A>G	uc003ivd.1	+						ODZ3_uc003ive.1_Intron	NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
C4orf41	60684	broad.mit.edu	37	4	184585014	184585014	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184585014C>T	uc003ivx.2	+	2					C4orf41_uc003ivw.2_5'UTR|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761			hypothetical protein LOC60684 isoform a												0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185309962	185309962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185309962C>T	uc003iwf.3	-	9	1200	c.1000G>A	c.(1000-1002)GTC>ATC	p.V334I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	334					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185329430	185329430	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185329430C>T	uc003iwf.3	-	6	612	c.412_splice	c.e6-1	p.Q138_splice		NM_002199	NP_002190			interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185340707G>A	uc003iwf.3	-	3	303	c.103C>T	c.(103-105)CAG>TAG	p.Q35*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
CCDC111	201973	broad.mit.edu	37	4	185593326	185593326	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185593326G>T	uc003iwk.2	+	7	990	c.557_splice	c.e7-1	p.G186_splice	CCDC111_uc010isd.1_Splice_Site|CCDC111_uc003iwj.2_Splice_Site_p.G186_splice|CCDC111_uc003iwl.2_Splice_Site_p.G186_splice|CCDC111_uc003iwm.2_Splice_Site_p.G57_splice|CCDC111_uc003iwn.2_Splice_Site_p.G11_splice	NM_152683	NP_689896			coiled-coil domain containing 111						DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)														---	---	---	---
SLC25A4	291	broad.mit.edu	37	4	186065961	186065961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186065961A>G	uc003ixd.2	+	2	284	c.155A>G	c.(154-156)AAA>AGA	p.K52R	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	52	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)													---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186253808	186253808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186253808A>C	uc003ixh.2	+	10	1506	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	SNX25_uc010ish.2_Missense_Mutation_p.E210D|SNX25_uc003ixi.2_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	439	Potential.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186381022	186381022	+	Missense_Mutation	SNP	T	A	A	rs143728634		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186381022T>A	uc003ixu.3	-	6	795	c.719A>T	c.(718-720)GAC>GTC	p.D240V	CCDC110_uc003ixv.3_Missense_Mutation_p.D203V|CCDC110_uc011ckt.1_Missense_Mutation_p.D240V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	240						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186382236	186382236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186382236A>T	uc003ixu.3	-	5	391	c.315T>A	c.(313-315)AAT>AAA	p.N105K	CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.N105K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	105						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186533060	186533060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186533060T>C	uc003iyl.2	-	18	3816	c.2958A>G	c.(2956-2958)CAA>CAG	p.Q986Q	SORBS2_uc003iyh.2_Silent_p.Q710Q|SORBS2_uc011ckw.1_Silent_p.Q547Q|SORBS2_uc003iyi.2_Silent_p.Q617Q|SORBS2_uc011ckx.1_Silent_p.Q552Q|SORBS2_uc003iyk.2_Silent_p.Q530Q|SORBS2_uc003iym.2_Silent_p.Q1086Q|SORBS2_uc003iyn.1_Silent_p.Q577Q|SORBS2_uc011cku.1_Silent_p.Q378Q|SORBS2_uc011ckv.1_Silent_p.Q890Q|SORBS2_uc003iyd.2_Silent_p.Q685Q|SORBS2_uc003iye.2_Silent_p.Q559Q|SORBS2_uc003iya.2_Silent_p.Q506Q|SORBS2_uc003iyb.2_Silent_p.Q459Q|SORBS2_uc003iyc.2_Silent_p.Q439Q|SORBS2_uc003iyg.2_Silent_p.Q1100Q|SORBS2_uc003iyf.2_Silent_p.Q522Q|SORBS2_uc003iyo.1_Silent_p.Q435Q	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	986	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544479	186544479	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186544479C>T	uc003iyl.2	-	13	2950	c.2092G>A	c.(2092-2094)GCT>ACT	p.A698T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A798T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A602T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A812T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	698						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187177156	187177156	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187177156A>C	uc003iyy.2	+	13	1571	c.1500A>C	c.(1498-1500)AAA>AAC	p.K500N	KLKB1_uc011clc.1_Missense_Mutation_p.K298N|KLKB1_uc011cld.1_Missense_Mutation_p.K462N	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	500	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)														---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187521118	187521118	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187521118C>T	uc003izf.2	-	22	12225	c.12037G>A	c.(12037-12039)GCC>ACC	p.A4013T	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4013	Extracellular (Potential).|EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187524831	187524831	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187524831T>C	uc003izf.2	-	19	11037	c.10849A>G	c.(10849-10851)ACA>GCA	p.T3617A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3617	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540078	187540078	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187540078A>C	uc003izf.2	-	10	7850	c.7662T>G	c.(7660-7662)CTT>CTG	p.L2554L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2554	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541346	187541346	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541346A>C	uc003izf.2	-	10	6582	c.6394T>G	c.(6394-6396)TTG>GTG	p.L2132V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2132	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549799	187549799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549799A>G	uc003izf.2	-	8	4630	c.4442T>C	c.(4441-4443)GTG>GCG	p.V1481A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1481	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549801	187549801	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549801A>G	uc003izf.2	-	8	4628	c.4440T>C	c.(4438-4440)GCT>GCC	p.A1480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1480	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187627796	187627796	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187627796G>A	uc003izf.2	-	2	3374	c.3186C>T	c.(3184-3186)GAC>GAT	p.D1062D	FAT1_uc010iso.1_Silent_p.D1062D	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1062	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188923990	188923990	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:188923990A>G	uc003izg.1	+	3	274	c.29A>G	c.(28-30)AAG>AGG	p.K10R	ZFP42_uc003izh.1_Missense_Mutation_p.K10R|ZFP42_uc003izi.1_Missense_Mutation_p.K10R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	10					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)														---	---	---	---
TUBB4Q	56604	broad.mit.edu	37	4	190905503	190905503	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190905503G>A	uc011clg.1	-	3	184	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	169511	169511	+	Missense_Mutation	SNP	G	A	A	rs146749875		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169511G>A	uc003jak.2	+	12	2515	c.2465G>A	c.(2464-2466)CGG>CAG	p.R822Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)														---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	192330	192330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:192330C>T	uc003jal.1	+	1	705	c.677C>T	c.(676-678)GCG>GTG	p.A226V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	226										skin(1)	1																		---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	195116	195116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:195116A>T	uc003jal.1	+	2	1221	c.1193A>T	c.(1192-1194)AAC>ATC	p.N398I		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	398	LRR 5.									skin(1)	1																		---	---	---	---
CCDC127	133957	broad.mit.edu	37	5	205460	205460	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:205460G>A	uc003jam.1	-	3	835	c.735C>T	c.(733-735)GTC>GTT	p.V245V		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	245											0			all cancers(22;0.0236)|Lung(60;0.113)															---	---	---	---
SDHA	6389	broad.mit.edu	37	5	235410	235410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:235410G>A	uc003jao.3	+	9	1331	c.1216G>A	c.(1216-1218)GTG>ATG	p.V406M	SDHA_uc003jan.2_Missense_Mutation_p.V406M|SDHA_uc011clv.1_Missense_Mutation_p.V406M|SDHA_uc011clw.1_Missense_Mutation_p.V358M|SDHA_uc003jap.3_Missense_Mutation_p.V406M|SDHA_uc003jaq.3_Missense_Mutation_p.V181M|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	406					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
PDCD6	10016	broad.mit.edu	37	5	306755	306755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:306755A>G	uc003jat.1	+	4	347	c.247A>G	c.(247-249)AGC>GGC	p.S83G	AHRR_uc003jav.2_Intron|AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.S115G	NM_013232	NP_037364	O75340	PDCD6_HUMAN	programmed cell death 6	83	EF-hand 2.|2 (Potential).				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(1)	1			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)															---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	453871	453871	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:453871A>G	uc003jba.2	+	4	879	c.751A>G	c.(751-753)ATC>GTC	p.I251V		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	262					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640603	640603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:640603G>A	uc003jbf.2	+	9	1495	c.1423G>A	c.(1423-1425)GGC>AGC	p.G475S		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	475					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)															---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2748698	2748698	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2748698G>A	uc003jda.2	-	3	1366	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	IRX2_uc003jdb.2_Missense_Mutation_p.S375L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	375						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749541	2749541	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2749541G>T	uc003jda.2	-	2	852	c.610C>A	c.(610-612)CCC>ACC	p.P204T	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.P204T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
C5orf38	153571	broad.mit.edu	37	5	2752744	2752744	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2752744T>C	uc003jdc.2	+	2	326	c.209T>C	c.(208-210)TTG>TCG	p.L70S	C5orf38_uc011cmg.1_Missense_Mutation_p.L70S|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	70						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)														---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3600783	3600783	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3600783C>T	uc003jde.2	+	3	1425	c.1373C>T	c.(1372-1374)CCG>CTG	p.P458L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463038	5463038	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463038T>C	uc003jdm.3	+	13	3813	c.3591T>C	c.(3589-3591)TCT>TCC	p.S1197S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1197										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463287	5463287	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463287A>T	uc003jdm.3	+	13	4062	c.3840A>T	c.(3838-3840)AAA>AAT	p.K1280N		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1280										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5464075	5464075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5464075A>G	uc003jdm.3	+	13	4850	c.4628A>G	c.(4627-4629)AAC>AGC	p.N1543S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1543										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7773061	7773061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7773061G>A	uc003jdz.1	+	18	2298	c.2231G>A	c.(2230-2232)TGC>TAC	p.C744Y	ADCY2_uc011cmo.1_Missense_Mutation_p.C564Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	744	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9054308	9054308	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9054308T>C	uc003jek.2	-	19	3292	c.2580A>G	c.(2578-2580)GGA>GGG	p.G860G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	860	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154655	9154655	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154655G>A	uc003jek.2	-	12	2138	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	476	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154780	9154780	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154780A>G	uc003jek.2	-	12	2013	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	434	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10407250	10407250	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10407250C>A	uc003jet.1	+	17	1672	c.1489C>A	c.(1489-1491)CTT>ATT	p.L497I	MARCH6_uc011cmu.1_Missense_Mutation_p.L449I|MARCH6_uc003jeu.1_Missense_Mutation_p.L195I|MARCH6_uc011cmv.1_Missense_Mutation_p.L392I	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	497	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10464976	10464976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10464976G>A	uc003jex.3	+	5	881	c.610G>A	c.(610-612)GGC>AGC	p.G204S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	204					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10992687	10992687	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10992687G>A	uc003jfa.1	-	19	3332	c.3187C>T	c.(3187-3189)CGC>TGC	p.R1063C	CTNND2_uc010itt.2_Missense_Mutation_p.R972C|CTNND2_uc011cmy.1_Missense_Mutation_p.R726C|CTNND2_uc011cmz.1_Missense_Mutation_p.R630C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R655C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411702	11411702	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11411702T>G	uc003jfa.1	-	5	530	c.385A>C	c.(385-387)AGG>CGG	p.R129R	CTNND2_uc010itt.2_Silent_p.R38R|CTNND2_uc011cmy.1_Silent_p.R38R|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	129					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735943	13735943	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13735943C>A	uc003jfd.2	-	67	11596	c.11554G>T	c.(11554-11556)GAC>TAC	p.D3852Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D20Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3852					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13759025	13759025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13759025T>C	uc003jfd.2	-	61	10391	c.10349A>G	c.(10348-10350)GAG>GGG	p.E3450G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3450	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13811930	13811930	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13811930A>C	uc003jfd.2	-	44	7275	c.7233T>G	c.(7231-7233)GGT>GGG	p.G2411G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2411	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13882935	13882935	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13882935A>G	uc003jfd.2	-							NM_001369	NP_001360			dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919401	13919401	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13919401G>A	uc003jfd.2	-	7	901	c.859C>T	c.(859-861)CTG>TTG	p.L287L	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	287	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14485290	14485290	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14485290G>T	uc003jff.2	+	47	6776	c.6770G>T	c.(6769-6771)AGT>ATT	p.S2257I	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1906I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2257	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14492761	14492761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14492761A>G	uc003jff.2	+	49	7724	c.7718A>G	c.(7717-7719)TAC>TGC	p.Y2573C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2573	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
FAM105B	90268	broad.mit.edu	37	5	14681660	14681660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14681660G>A	uc003jfk.2	+	4	564	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	138										ovary(2)	2	Lung NSC(4;0.00696)																	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14871519	14871519	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14871519A>G	uc003jfm.3	-	1	369	c.38T>C	c.(37-39)CTG>CCG	p.L13P		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	13	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16672884	16672884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16672884C>T	uc003jft.3	-	37	5691	c.5223G>A	c.(5221-5223)ATG>ATA	p.M1741I	MYO10_uc011cnb.1_Missense_Mutation_p.M370I|MYO10_uc011cnc.1_Missense_Mutation_p.M620I|MYO10_uc011cnd.1_Missense_Mutation_p.M1098I|MYO10_uc011cne.1_Missense_Mutation_p.M1098I|MYO10_uc010itx.2_Missense_Mutation_p.M1363I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1741	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975268	21975268	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975268A>T	uc010iuc.2	-	3	916	c.458T>A	c.(457-459)ATT>AAT	p.I153N	CDH12_uc011cno.1_Missense_Mutation_p.I153N|CDH12_uc003jgk.2_Missense_Mutation_p.I153N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	153	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078547	22078547	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078547G>T	uc010iuc.2	-						CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron	NM_004061	NP_004052			cadherin 12, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23522467	23522467	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23522467G>C	uc003jgo.2	+	7	745	c.563G>C	c.(562-564)GGT>GCT	p.G188A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	188					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488088	24488088	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24488088T>A	uc003jgr.1	-	12	2383	c.2051A>T	c.(2050-2052)AAA>ATA	p.K684I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881477	26881477	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26881477T>C	uc003jgs.1	-	12	2307	c.2138A>G	c.(2137-2139)CAA>CGA	p.Q713R	CDH9_uc011cnv.1_Missense_Mutation_p.Q306R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	713	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886083	26886083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26886083T>C	uc003jgs.1	-	10	1791	c.1622A>G	c.(1621-1623)GAT>GGT	p.D541G	CDH9_uc011cnv.1_Missense_Mutation_p.D134G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	541	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26906938	26906938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26906938A>G	uc003jgs.1	-	4	702	c.533T>C	c.(532-534)GTT>GCT	p.V178A	CDH9_uc010iug.2_Missense_Mutation_p.V178A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305342	31305342	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31305342T>G	uc003jhe.1	+	7	1387	c.1061T>G	c.(1060-1062)GTT>GGT	p.V354G	CDH6_uc003jhd.1_Missense_Mutation_p.V354G	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	354	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7																		---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31526342	31526342	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31526342T>A	uc003jhg.2	-	4	1057	c.698A>T	c.(697-699)CAC>CTC	p.H233L	RNASEN_uc003jhh.2_Missense_Mutation_p.H233L|RNASEN_uc003jhi.2_Missense_Mutation_p.H233L|RNASEN_uc010iui.1_Missense_Mutation_p.H224L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	233	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983390	31983390	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983390C>A	uc003jhl.2	+	3	994	c.606C>A	c.(604-606)ACC>ACA	p.T202T	PDZD2_uc003jhm.2_Silent_p.T202T|PDZD2_uc011cnx.1_Silent_p.T28T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	202					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32355933	32355933	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32355933T>C	uc003jhr.1	-	20	3238	c.3158A>G	c.(3157-3159)GAT>GGT	p.D1053G	ZFR_uc010ium.1_Missense_Mutation_p.D184G|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32387778	32387778	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32387778T>C	uc003jhr.1	-	14	2456	c.2376A>G	c.(2374-2376)GGA>GGG	p.G792G	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	792	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
C5orf23	79614	broad.mit.edu	37	5	32789518	32789518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32789518C>T	uc003jhw.1	+	1	574	c.11C>T	c.(10-12)TCC>TTC	p.S4F		NM_024563	NP_078839			hypothetical protein LOC79614												0																		---	---	---	---
TARS	6897	broad.mit.edu	37	5	33455788	33455788	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33455788A>G	uc003jhy.2	+	6	967	c.672A>G	c.(670-672)GAA>GAG	p.E224E	TARS_uc011cob.1_Silent_p.E212E|TARS_uc010iup.1_Silent_p.E165E|TARS_uc011coc.1_Silent_p.E245E|TARS_uc003jhz.2_Silent_p.E120E|TARS_uc011cod.1_Silent_p.E103E	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	224					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
TARS	6897	broad.mit.edu	37	5	33457508	33457508	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33457508G>T	uc003jhy.2	+	9	1279	c.984G>T	c.(982-984)AGG>AGT	p.R328S	TARS_uc011cob.1_Missense_Mutation_p.R316S|TARS_uc010iup.1_Missense_Mutation_p.R269S|TARS_uc011coc.1_Missense_Mutation_p.R349S|TARS_uc003jhz.2_Missense_Mutation_p.R224S|TARS_uc011cod.1_Missense_Mutation_p.R207S	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	328					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938202	33938202	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938202G>A	uc003jic.1	+	1	1714	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	453	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33944918	33944918	+	Silent	SNP	G	A	A	rs139551409		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33944918G>A	uc003jid.2	-	7	1520	c.1428C>T	c.(1426-1428)TGC>TGT	p.C476C		NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	476	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34814723	34814723	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34814723G>A	uc003jir.2	+	12	1084	c.888G>A	c.(886-888)TCG>TCA	p.S296S	RAI14_uc010iur.2_Silent_p.S267S|RAI14_uc011coj.1_Silent_p.S296S|RAI14_uc010ius.1_Silent_p.S225S|RAI14_uc003jis.2_Silent_p.S299S|RAI14_uc003jit.2_Silent_p.S296S|RAI14_uc011cok.1_Silent_p.S288S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	296						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)																	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35806994	35806994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35806994T>C	uc003jjo.2	+	35	5307	c.5196T>C	c.(5194-5196)AGT>AGC	p.S1732S	SPEF2_uc003jjp.1_Silent_p.S1218S|SPEF2_uc003jjr.2_Silent_p.S787S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35860990	35860990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35860990T>C	uc003jjs.2	+	2	208	c.119T>C	c.(118-120)TTC>TCC	p.F40S	IL7R_uc011coo.1_Missense_Mutation_p.F40S|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	40	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36153144	36153144	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36153144G>T	uc003jkc.1	+	2	462	c.280G>T	c.(280-282)GGT>TGT	p.G94C	SKP2_uc011cou.1_Translation_Start_Site|SKP2_uc003jkd.2_Missense_Mutation_p.G94C|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	94	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36182033	36182033	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36182033A>G	uc003jkc.1	+	10	1357	c.1175A>G	c.(1174-1176)CAT>CGT	p.H392R	SKP2_uc011cou.1_Missense_Mutation_p.H178R|SKP2_uc003jkd.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36961658	36961658	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36961658A>G	uc003jkl.3	+	5	930	c.431A>G	c.(430-432)CAA>CGA	p.Q144R	NIPBL_uc003jkk.3_Missense_Mutation_p.Q144R|NIPBL_uc003jkm.1_Missense_Mutation_p.Q23R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006447	37006447	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006447A>G	uc003jkl.3	+						NIPBL_uc003jkk.3_Intron	NM_133433	NP_597677			delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006671	37006671	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006671C>A	uc003jkl.3	+	17	4567	c.4068C>A	c.(4066-4068)TAC>TAA	p.Y1356*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.Y1356*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020717	37020717	+	Nonsense_Mutation	SNP	C	T	T	rs121918267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020717C>T	uc003jkl.3	+	26	5666	c.5167C>T	c.(5167-5169)CGA>TGA	p.R1723*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1723*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1723					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020965	37020965	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020965A>T	uc003jkl.3	+	27	5813	c.5314A>T	c.(5314-5316)ATT>TTT	p.I1772F	NIPBL_uc003jkk.3_Missense_Mutation_p.I1772F	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1772	HEAT 1.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37187584	37187584	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37187584A>G	uc011cpa.1	-	23	4243	c.4012T>C	c.(4012-4014)TTT>CTT	p.F1338L	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F413L|C5orf42_uc011cpb.1_Missense_Mutation_p.F219L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1338										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37364478	37364478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37364478T>C	uc003jku.1	-	2	284	c.166A>G	c.(166-168)ACC>GCC	p.T56A	NUP155_uc003jkt.1_5'UTR|NUP155_uc010iuz.1_Missense_Mutation_p.T56A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37605339	37605339	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37605339C>A	uc003jkv.2	+	10	1149	c.1091C>A	c.(1090-1092)ACT>AAT	p.T364N	WDR70_uc010iva.1_Missense_Mutation_p.T364N	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	364	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38511961	38511961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38511961A>G	uc010ive.1	-	6	999	c.667T>C	c.(667-669)TAC>CAC	p.Y223H	LIFR_uc003jli.2_Missense_Mutation_p.Y223H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	223	Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)							T	PLAG1	salivary adenoma								---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38947539	38947539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38947539T>C	uc003jlp.2	-	32	4165	c.4141A>G	c.(4141-4143)ATG>GTG	p.M1381V	RICTOR_uc003jlo.2_Missense_Mutation_p.M1405V|RICTOR_uc010ivf.2_Missense_Mutation_p.M1096V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1381					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38952456	38952456	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38952456C>G	uc003jlp.2	-	30	2993	c.2969G>C	c.(2968-2970)TGG>TCG	p.W990S	RICTOR_uc003jlo.2_Missense_Mutation_p.W990S|RICTOR_uc010ivf.2_Missense_Mutation_p.W705S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	990					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002671	39002671	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002671C>T	uc003jlp.2	-	5	382	c.358G>A	c.(358-360)GTG>ATG	p.V120M	RICTOR_uc003jlo.2_Missense_Mutation_p.V120M|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.V104M|RICTOR_uc011cpk.1_Missense_Mutation_p.V120M	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002727	39002727	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002727G>A	uc003jlp.2	-	5	326	c.302C>T	c.(301-303)GCA>GTA	p.A101V	RICTOR_uc003jlo.2_Missense_Mutation_p.A101V|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.A85V|RICTOR_uc011cpk.1_Missense_Mutation_p.A101V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
C9	735	broad.mit.edu	37	5	39285290	39285290	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39285290A>G	uc003jlv.3	-	11						NM_001737	NP_001728			complement component 9 precursor						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
C9	735	broad.mit.edu	37	5	39311418	39311418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39311418C>T	uc003jlv.3	-	7	1021	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39376984	39376984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39376984A>C	uc003jlx.2	-	12	2436	c.1905T>G	c.(1903-1905)GAT>GAG	p.D635E	DAB2_uc003jlw.2_Missense_Mutation_p.D614E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	635					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)													OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39382948	39382948	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39382948G>T	uc003jlx.2	-	10	1644	c.1113C>A	c.(1111-1113)ACC>ACA	p.T371T	DAB2_uc003jlw.2_Silent_p.T350T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	371					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39390565	39390565	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39390565G>A	uc003jlx.2	-	5	974	c.443C>T	c.(442-444)GCC>GTC	p.A148V	DAB2_uc003jlw.2_Missense_Mutation_p.A148V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	148	PID.			A -> T (in Ref. 2; AAA98975).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39392490	39392490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39392490T>C	uc003jlx.2	-	4	838	c.307A>G	c.(307-309)AAA>GAA	p.K103E	DAB2_uc003jlw.2_Missense_Mutation_p.K103E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	103	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40691943	40691943	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40691943A>G	uc003jlz.2	+	3	1522	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	310	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2																		---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40692107	40692107	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40692107A>G	uc003jlz.2	+	3	1686	c.1094A>G	c.(1093-1095)GAC>GGC	p.D365G		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.D365D(1)		lung(2)	2																		---	---	---	---
PRKAA1	5562	broad.mit.edu	37	5	40777625	40777625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40777625C>T	uc003jmc.2	-	2	197	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	PRKAA1_uc003jmb.2_Missense_Mutation_p.R64Q	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	64	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)													---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853695	40853695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40853695G>A	uc003jmg.2	+	3	2336	c.2261G>A	c.(2260-2262)GGC>GAC	p.G754D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	754					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
C7	730	broad.mit.edu	37	5	40955575	40955575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40955575G>A	uc003jmh.2	+	10	1294	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41018434	41018434	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018434A>G	uc003jmj.3	-						HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760			HEAT repeat family member 7B2								binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41842866	41842866	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41842866A>T	uc003jmn.2	-	6	913	c.582T>A	c.(580-582)GGT>GGA	p.G194G		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	194					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850186	41850186	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850248	41850248	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850248C>T	uc003jmn.2	-	5	779	c.448G>A	c.(448-450)GCT>ACT	p.A150T		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	150					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41934226	41934226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41934226T>C	uc003jmq.2	+						FBXO4_uc003jmp.2_Intron|FBXO4_uc003jmr.2_Intron	NM_012176	NP_036308			F-box only protein 4 isoform 1						positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)																---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43527569	43527569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43527569T>C	uc003job.2	-	11	1596	c.1349A>G	c.(1348-1350)TAC>TGC	p.Y450C	PAIP1_uc003joa.2_Missense_Mutation_p.Y371C|PAIP1_uc010ivp.2_Missense_Mutation_p.T340A|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Y338C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	450	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43556088	43556088	+	Silent	SNP	G	A	A	rs144446267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43556088G>A	uc003job.2	-	2	526	c.279C>T	c.(277-279)CCC>CCT	p.P93P	PAIP1_uc003joa.2_Silent_p.P14P|PAIP1_uc010ivp.2_Silent_p.P14P|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_5'UTR	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	93	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43616140	43616140	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43616140C>A	uc003joe.2	+	4	827	c.572C>A	c.(571-573)GCG>GAG	p.A191E	NNT_uc003jof.2_Missense_Mutation_p.A191E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	191	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
NNT	23530	broad.mit.edu	37	5	43624143	43624143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43624143G>A	uc003joe.2	+	6	952	c.697G>A	c.(697-699)GTT>ATT	p.V233I	NNT_uc003jof.2_Missense_Mutation_p.V233I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	233	Mitochondrial matrix.|NAD (By similarity).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809273	44809273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:44809273T>C	uc003joh.2	+	1	247	c.209T>C	c.(208-210)GTG>GCG	p.V70A	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	70					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)																	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262884	45262884	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262884C>T	uc003jok.2	-	8	1837	c.1812G>A	c.(1810-1812)AAG>AAA	p.K604K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	604	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45695850	45695850	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45695850T>A	uc003jok.2	-	1	371	c.346A>T	c.(346-348)AGC>TGC	p.S116C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	116	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50130758	50130758	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50130758T>G	uc003jon.3	+						PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Intron|PARP8_uc003jop.2_Intron	NM_024615	NP_078891			poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52157298	52157298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52157298C>T	uc003jou.2	+	3	252	c.200C>T	c.(199-201)CCG>CTG	p.P67L	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	67	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52221106	52221106	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52221106A>G	uc003jou.2	+	19	2456	c.2404_splice	c.e19-2	p.I802_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.I333_splice	NM_181501	NP_852478			integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52344509	52344509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52344509A>G	uc003joy.2	+	6	682	c.539A>G	c.(538-540)GAT>GGT	p.D180G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.D104G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	180	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52353888	52353888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52353888A>G	uc003joy.2	+	10	1273	c.1130A>G	c.(1129-1131)GAA>GGA	p.E377G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E301G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	377	Extracellular (Potential).|FG-GAP 3.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52367773	52367773	+	Silent	SNP	C	A	A	rs41366951	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52367773C>A	uc003joy.2	+	18	2384	c.2241C>A	c.(2239-2241)CCC>CCA	p.P747P	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.P671P|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	747	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52780953	52780953	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52780953T>A	uc003jpd.2	+	5	875	c.848T>A	c.(847-849)GTC>GAC	p.V283D	FST_uc003jpc.2_Missense_Mutation_p.V283D	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	283	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52781060	52781060	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52781060A>G	uc003jpd.2	+						FST_uc003jpc.2_Intron	NM_013409	NP_037541			follistatin isoform FST344 precursor						hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54603965	54603965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54603965G>A	uc003jpy.3	+	1	390	c.124G>A	c.(124-126)GAC>AAC	p.D42N	SKIV2L2_uc011cqi.1_Missense_Mutation_p.R9K|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	42					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54696086	54696086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54696086G>A	uc003jpy.3	+	21	2584	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.G672D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	773					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168208	55168208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168208T>A	uc003jql.2	+	4	448	c.383T>A	c.(382-384)ATT>AAT	p.I128N	IL31RA_uc003jqk.2_Missense_Mutation_p.I128N|IL31RA_uc011cqj.1_Translation_Start_Site|IL31RA_uc003jqm.2_Missense_Mutation_p.I96N|IL31RA_uc003jqn.2_Missense_Mutation_p.I128N|IL31RA_uc010iwa.1_Missense_Mutation_p.I96N|IL31RA_uc003jqo.2_Translation_Start_Site	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	96	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168291	55168291	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168291T>C	uc003jql.2	+						IL31RA_uc003jqk.2_Intron|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc010iwa.1_Intron|IL31RA_uc003jqo.2_Intron	NM_139017	NP_620586			gp130-like monocyte receptor						anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55237466	55237466	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55237466A>G	uc003jqq.2	-	17	2456	c.2201T>C	c.(2200-2202)ATG>ACG	p.M734T	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.M673T|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.M53T|IL6ST_uc011cqk.1_Missense_Mutation_p.M445T|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	734	Cytoplasmic (Potential).|Ser-rich.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						O		hepatocellular ca								---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55407092	55407092	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55407092T>C	uc003jqu.2	-	10	1635	c.1483A>G	c.(1483-1485)AAG>GAG	p.K495E	ANKRD55_uc003jqt.2_Missense_Mutation_p.K207E	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	494										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)																---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56219147	56219147	+	Silent	SNP	G	T	T	rs141090261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56219147G>T	uc003jrd.1	-	13	1486	c.1461C>A	c.(1459-1461)GCC>GCA	p.A487A	MIER3_uc003jqz.1_Silent_p.A424A|MIER3_uc003jra.1_Silent_p.A486A|MIER3_uc003jrb.1_Silent_p.A311A|MIER3_uc003jrc.1_Silent_p.A492A	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56231255	56231255	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56231255C>T	uc003jrd.1	-	7	620	c.595G>A	c.(595-597)GTA>ATA	p.V199I	MIER3_uc003jqz.1_Missense_Mutation_p.V136I|MIER3_uc003jra.1_Missense_Mutation_p.V199I|MIER3_uc003jrb.1_Missense_Mutation_p.V23I|MIER3_uc003jrc.1_Missense_Mutation_p.V204I	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	199	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
PLK2	10769	broad.mit.edu	37	5	57751521	57751521	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:57751521A>G	uc003jrn.2	-	11	1597	c.1470T>C	c.(1468-1470)GAT>GAC	p.D490D		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	490					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)														---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59943345	59943345	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:59943345T>C	uc003jsh.2	-	3	403	c.330A>G	c.(328-330)TCA>TCG	p.S110S	DEPDC1B_uc011cqm.1_Silent_p.S110S|DEPDC1B_uc011cqn.1_Silent_p.S83S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)																---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60195478	60195478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:60195478T>C	uc003jsm.3	-	8	764	c.694A>G	c.(694-696)AAA>GAA	p.K232E	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.K174E|ERCC8_uc011cqp.1_Missense_Mutation_p.K79E	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	232					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)											Direct_reversal_of_damage|NER					---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256873	63256873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256873C>T	uc011cqt.1	-	1	674	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	225	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256991	63256991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256991C>T	uc011cqt.1	-	1	556	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	186	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
CENPK	64105	broad.mit.edu	37	5	64850721	64850721	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64850721T>C	uc003jts.2	-	3	226	c.14A>G	c.(13-15)GAT>GGT	p.D5G	CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Missense_Mutation_p.D5G	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	5					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)														---	---	---	---
PPWD1	23398	broad.mit.edu	37	5	64867672	64867672	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64867672T>C	uc003jtv.3	+	5	535	c.528T>C	c.(526-528)TTT>TTC	p.F176F	PPWD1_uc011cqv.1_Silent_p.F146F|PPWD1_uc011cqw.1_Silent_p.F20F	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	176					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)														---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64900754	64900754	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64900754G>T	uc003jty.2	-	7	1249	c.1163C>A	c.(1162-1164)CCT>CAT	p.P388H	TRIM23_uc003jtw.2_Missense_Mutation_p.P388H|TRIM23_uc003jtx.2_Missense_Mutation_p.P388H	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	388					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)														---	---	---	---
NLN	57486	broad.mit.edu	37	5	65077166	65077166	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65077166A>G	uc003juf.2	+	6	856	c.740A>G	c.(739-741)CAC>CGC	p.H247R	NLN_uc003jue.2_Missense_Mutation_p.H247R|NLN_uc003jug.2_Missense_Mutation_p.H76R	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	247					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)														---	---	---	---
SFRS12	140890	broad.mit.edu	37	5	65466667	65466667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65466667G>A	uc003juo.2	+	10	1688	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	SFRS12_uc003jun.2_Missense_Mutation_p.R459Q|SFRS12_uc010iwy.2_Missense_Mutation_p.R343Q	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	343	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)														---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66459236	66459236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66459236C>T	uc003jut.1	+	28	3730	c.3662C>T	c.(3661-3663)GCG>GTG	p.A1221V	MAST4_uc003juw.2_Missense_Mutation_p.A1149V|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1413						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67584567	67584567	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67584567C>T	uc003jva.2	+						PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Missense_Mutation_p.H2Y|PIK3R1_uc003jvd.2_5'Flank|PIK3R1_uc003jve.2_5'Flank	NM_181523	NP_852664			phosphoinositide-3-kinase, regulatory subunit 1						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67593317	67593317	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67593317A>G	uc003jva.2	+	16	2623	c.2063A>G	c.(2062-2064)TAC>TGC	p.Y688C	PIK3R1_uc003jvb.2_Missense_Mutation_p.Y688C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y388C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y418C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y367C	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	688	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70782320	70782320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70782320G>A	uc003kbp.1	+	9	1342	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	BDP1_uc003kbn.1_Missense_Mutation_p.R360H|BDP1_uc003kbo.2_Missense_Mutation_p.R360H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	360	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70809109	70809109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70809109G>A	uc003kbp.1	+	19	4608	c.4345G>A	c.(4345-4347)GCT>ACT	p.A1449T	BDP1_uc003kbo.2_Missense_Mutation_p.A1449T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1449					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70818630	70818630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70818630T>C	uc003kbp.1	+	24	5504	c.5241T>C	c.(5239-5241)GAT>GAC	p.D1747D	BDP1_uc003kbo.2_Silent_p.D1747D|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1747					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495096	71495096	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71495096T>C	uc003kbw.3	+	5	6155	c.5914T>C	c.(5914-5916)TAC>CAC	p.Y1972H	MAP1B_uc010iyw.1_Missense_Mutation_p.Y1989H|MAP1B_uc010iyx.1_Missense_Mutation_p.Y1846H|MAP1B_uc010iyy.1_Missense_Mutation_p.Y1846H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1972	MAP1B 6.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)														---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71756528	71756528	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71756528A>T	uc003kce.1	-	2	982	c.796T>A	c.(796-798)TAC>AAC	p.Y266N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	266	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72173107	72173107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72173107G>A	uc003kck.3	+	9	1001	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.C235Y|TNPO1_uc003kch.2_Missense_Mutation_p.C277Y|TNPO1_uc003kci.3_Missense_Mutation_p.C277Y|TNPO1_uc003kcg.3_Missense_Mutation_p.C277Y	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	285					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72183988	72183988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72183988C>T	uc003kck.3	+	13	1534	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	TNPO1_uc011csj.1_Missense_Mutation_p.R413C|TNPO1_uc003kch.2_Missense_Mutation_p.R455C|TNPO1_uc003kci.3_Missense_Mutation_p.R455C|TNPO1_uc003kcg.3_Missense_Mutation_p.R455C	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	463	HEAT 5.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72864245	72864245	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72864245A>T	uc003kcw.1	+	4	407	c.184A>T	c.(184-186)ATT>TTT	p.I62F	UTP15_uc011cso.1_Missense_Mutation_p.I43F|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.I62F|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	62	WD 1.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72873772	72873772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72873772G>T	uc003kcw.1	+	9	1209	c.986G>T	c.(985-987)AGA>ATA	p.R329I	UTP15_uc011cso.1_Missense_Mutation_p.R310I|UTP15_uc011csp.1_Missense_Mutation_p.R139I|UTP15_uc010ize.1_Missense_Mutation_p.R329I	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	329					rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
RGNEF	64283	broad.mit.edu	37	5	73165890	73165890	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73165890T>G	uc011csq.1	+						RGNEF_uc003kcx.2_Intron|RGNEF_uc010izf.2_Intron|RGNEF_uc011csr.1_Intron	NM_001080479	NP_001073948			Rho-guanine nucleotide exchange factor						cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)														---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74014111	74014111	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74014111A>G	uc003kdf.3	+						HEXB_uc003kdd.2_Intron|HEXB_uc010izh.2_Intron|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512			hexosaminidase B preproprotein						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)														---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74646159	74646159	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74646159A>T	uc003kdp.2	+	8	896	c.740A>T	c.(739-741)AAT>ATT	p.N247I	HMGCR_uc011cst.1_Missense_Mutation_p.N267I|HMGCR_uc003kdq.2_Missense_Mutation_p.N247I|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	247					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74650443	74650443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74650443G>A	uc003kdp.2	+	12	1640	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H	HMGCR_uc011cst.1_Missense_Mutation_p.R515H|HMGCR_uc003kdq.2_Missense_Mutation_p.R495H	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	495	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75950035	75950035	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75950035G>T	uc003kek.2	+	19	2411	c.2189G>T	c.(2188-2190)TGG>TTG	p.W730L	IQGAP2_uc010izv.2_Missense_Mutation_p.W283L|IQGAP2_uc011csv.1_Missense_Mutation_p.W226L|IQGAP2_uc003kel.2_Missense_Mutation_p.W226L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	730	IQ 2.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75954306	75954306	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75954306A>G	uc003kek.2	+	21	2565	c.2343A>G	c.(2341-2343)TTA>TTG	p.L781L	IQGAP2_uc010izv.2_Silent_p.L334L|IQGAP2_uc011csv.1_Silent_p.L277L|IQGAP2_uc003kel.2_Silent_p.L277L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	781					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75991429	75991429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75991429G>A	uc003kek.2	+	32	4366	c.4144G>A	c.(4144-4146)GAA>AAA	p.E1382K	IQGAP2_uc011csv.1_Missense_Mutation_p.E878K|IQGAP2_uc003kel.2_Missense_Mutation_p.E878K|IQGAP2_uc010izw.1_Missense_Mutation_p.E83K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1382					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
F2R	2149	broad.mit.edu	37	5	76029054	76029054	+	Missense_Mutation	SNP	C	T	T	rs17849599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76029054C>T	uc003ken.3	+	2	1269	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	335	Extracellular (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)													---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77316593	77316593	+	Missense_Mutation	SNP	T	G	G	rs139968311	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:77316593T>G	uc003kfj.2	-	25	3040	c.2915A>C	c.(2914-2916)AAT>ACT	p.N972T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	972					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										Hermansky-Pudlak_syndrome				---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78324268	78324268	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78324268T>A	uc003kfs.2	-	12	2026	c.2020A>T	c.(2020-2022)ATA>TTA	p.I674L	DMGDH_uc011cte.1_Missense_Mutation_p.I524L|DMGDH_uc011ctf.1_Missense_Mutation_p.I473L|DMGDH_uc011ctg.1_Missense_Mutation_p.I294L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	674					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78375267	78375267	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78375267A>T	uc003kft.2	+	3	265	c.242A>T	c.(241-243)GAC>GTC	p.D81V	BHMT2_uc011cth.1_Missense_Mutation_p.D81V	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	81	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78376559	78376559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78376559G>A	uc003kft.2	+	4	331	c.308G>A	c.(307-309)GGC>GAC	p.G103D	BHMT2_uc011cth.1_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	103	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025398G>A	uc003kgc.2	+	2	882	c.810G>A	c.(808-810)GAG>GAA	p.E270E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025453	79025453	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025453G>A	uc003kgc.2	+	2	937	c.865G>A	c.(865-867)GCC>ACC	p.A289T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	289						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79030209	79030209	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79030209C>A	uc003kgc.2	+	2	5693	c.5621C>A	c.(5620-5622)CCT>CAT	p.P1874H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1874						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79031080	79031080	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79031080G>T	uc003kgc.2	+	2	6564	c.6492G>T	c.(6490-6492)CCG>CCT	p.P2164P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79032520	79032520	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79032520T>C	uc003kgc.2	+	2	8004	c.7932T>C	c.(7930-7932)GAT>GAC	p.D2644D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2644						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79084905	79084905	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79084905A>G	uc003kgc.2	+	10	11739	c.11667A>G	c.(11665-11667)GAA>GAG	p.E3889E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3889	Fibronectin type-III 2.|B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80381689	80381689	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80381689A>G	uc003kha.1	+	8	1230	c.1230A>G	c.(1228-1230)AAA>AAG	p.K410K	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.K238K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80521507	80521507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80521507A>G	uc003kha.1	+	27	3632	c.3632A>G	c.(3631-3633)TAC>TGC	p.Y1211C	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1211	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80559317	80559317	+	Missense_Mutation	SNP	G	A	A	rs148114477		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80559317G>A	uc003khc.3	+	10	1264	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R341H|CKMT2_uc003khd.3_Missense_Mutation_p.R341H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	341	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)													---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80626717	80626717	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80626717C>T	uc003khl.3	-	14	1489	c.1434G>A	c.(1432-1434)TCG>TCA	p.S478S	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	478	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81460363	81460363	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81460363A>G	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81474333	81474333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81474333A>G	uc003khs.2	+	6	809	c.380A>G	c.(379-381)GAC>GGC	p.D127G	ATG10_uc003khr.2_Missense_Mutation_p.D127G|ATG10_uc010jas.2_Missense_Mutation_p.D91G	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN	APG10 autophagy 10-like	127					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81548488	81548488	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81548488A>T	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82400807	82400807	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82400807T>C	uc003kib.2	+	2	197	c.69T>C	c.(67-69)TCT>TCC	p.S23S	XRCC4_uc003kia.1_Silent_p.S23S|XRCC4_uc003kid.2_Silent_p.S23S|XRCC4_uc003kic.2_Silent_p.S23S|XRCC4_uc003kie.2_Silent_p.S23S|XRCC4_uc003kif.1_Silent_p.S23S	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	23					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82491701	82491701	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82491701A>G	uc003kib.2	+	4	556	c.428A>G	c.(427-429)CAC>CGC	p.H143R	XRCC4_uc003kia.1_Missense_Mutation_p.H143R|XRCC4_uc003kid.2_Missense_Mutation_p.H143R|XRCC4_uc003kic.2_Missense_Mutation_p.H143R|XRCC4_uc003kie.2_Missense_Mutation_p.H143R|XRCC4_uc003kif.1_Missense_Mutation_p.H143R	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	143	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82779373	82779373	+	Nonsense_Mutation	SNP	T	A	A	rs113090098		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82779373T>A	uc003kii.3	+	2	392	c.36T>A	c.(34-36)TGT>TGA	p.C12*	VCAN_uc003kij.3_Nonsense_Mutation_p.C12*|VCAN_uc010jau.2_Nonsense_Mutation_p.C12*|VCAN_uc003kik.3_Nonsense_Mutation_p.C12*|VCAN_uc003kih.3_Nonsense_Mutation_p.C12*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	12					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815597	82815597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82815597A>G	uc003kii.3	+	7	1828	c.1472A>G	c.(1471-1473)GAA>GGA	p.E491G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E491G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	491	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86659208	86659208	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86659208T>C	uc003kiw.2	+	11	1615	c.1497T>C	c.(1495-1497)GGT>GGC	p.G499G	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.G322G|RASA1_uc011ctv.1_Silent_p.G332G|RASA1_uc011ctw.1_Silent_p.G333G|RASA1_uc010jaw.2_Silent_p.G321G	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	499	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87494828	87494828	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87494828C>T	uc003kjc.2	-	10	1179	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	TMEM161B_uc011cty.1_Missense_Mutation_p.A341T|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A143T	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87564551	87564551	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87564551A>G	uc003kjc.2	-	1					TMEM161B_uc011cty.1_5'UTR|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_5'UTR|uc003kjd.2_5'Flank|uc003kje.2_5'Flank	NM_153354	NP_699185			transmembrane protein 161B							integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88027692	88027692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:88027692A>G	uc003kjj.2	-	7	1337	c.664T>C	c.(664-666)TCA>CCA	p.S222P	MEF2C_uc003kji.2_Missense_Mutation_p.S222P|MEF2C_uc003kjk.2_Missense_Mutation_p.S222P|MEF2C_uc003kjm.2_Missense_Mutation_p.S220P|MEF2C_uc003kjl.2_Missense_Mutation_p.S240P	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	222					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)											HNSCC(66;0.2)			---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89923354	89923354	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89923354T>C	uc003kju.2	+	7	1095	c.999T>C	c.(997-999)TTT>TTC	p.F333F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	333	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89940532	89940532	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89940532A>G	uc003kju.2	+	15	2840	c.2744A>G	c.(2743-2745)GAT>GGT	p.D915G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	915	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052421	90052421	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90052421G>T	uc003kju.2	+	56	11827	c.11731G>T	c.(11731-11733)GGA>TGA	p.G3911*	GPR98_uc003kjt.2_Nonsense_Mutation_p.G1617*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G1511*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3911	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
NR2F1	7025	broad.mit.edu	37	5	92923678	92923678	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:92923678C>T	uc003kkj.2	+	2	2206	c.519C>T	c.(517-519)CTC>CTT	p.L173L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	173					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)														---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94030751	94030751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94030751G>A	uc003kkr.3	+	21	2991	c.2911G>A	c.(2911-2913)GAT>AAT	p.D971N	ANKRD32_uc003kks.2_Missense_Mutation_p.D335N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	971										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)														---	---	---	---
FAM81B	153643	broad.mit.edu	37	5	94731831	94731831	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94731831C>T	uc003kla.1	+	3	291	c.245C>T	c.(244-246)GCC>GTC	p.A82V	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	82										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)														---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94826671	94826671	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94826671T>C	uc003klb.2	-	37	4142	c.3872A>G	c.(3871-3873)AAC>AGC	p.N1291S		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1291							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94849321	94849321	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94849321T>A	uc003klb.2	-	27	3002	c.2732A>T	c.(2731-2733)TAT>TTT	p.Y911F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94857846	94857846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94857846T>C	uc003klb.2	-	19	2193	c.1923A>G	c.(1921-1923)ATA>ATG	p.I641M	TTC37_uc010jbf.1_Missense_Mutation_p.I593M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	641	TPR 11.						binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94858903	94858903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94858903T>C	uc003klb.2	-						TTC37_uc010jbf.1_Intron	NM_014639	NP_055454			tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4																		---	---	---	---
SPATA9	83890	broad.mit.edu	37	5	94994504	94994504	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94994504A>C	uc003klj.1	-	5	744	c.588T>G	c.(586-588)CCT>CCG	p.P196P	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	196					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)														---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95249552	95249552	+	Missense_Mutation	SNP	C	T	T	rs146144447		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95249552C>T	uc003klr.3	-	4	754	c.404G>A	c.(403-405)CGA>CAA	p.R135Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	135					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)														---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746500	95746500	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95746500C>T	uc003kls.1	-	8	1279	c.1073G>A	c.(1072-1074)GGA>GAA	p.G358E	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	358	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96139196	96139196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96139196T>C	uc003kmm.2	-	2	781	c.434A>G	c.(433-435)TAC>TGC	p.Y145C	ERAP1_uc003kml.2_Missense_Mutation_p.Y145C|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y145C	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	145	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)														---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96251474	96251474	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96251474G>A	uc003kmq.2	+	18	3449	c.2739_splice	c.e18+1	p.E913_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.E913_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.E862_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745			endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98129124	98129124	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98129124C>T	uc003knc.2	+	5	1506	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	327					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)														---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98194704	98194704	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98194704T>C	uc003knf.2	-	33	4688	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	CHD1_uc010jbn.2_Missense_Mutation_p.N240D	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1514					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)													---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101606335	101606335	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101606335G>A	uc003knm.2	-	3	1082	c.795C>T	c.(793-795)CTC>CTT	p.L265L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	265	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101627089	101627089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101627089G>A	uc003knm.2	-	2	864	c.577C>T	c.(577-579)CAA>TAA	p.Q193*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	193	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101774410	101774410	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101774410T>C	uc003knn.2	-	7	1359	c.1187A>G	c.(1186-1188)TAT>TGT	p.Y396C	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y396C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y334C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	396	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102509634	102509634	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102509634A>G	uc003kod.3	+	21	3006	c.2487A>G	c.(2485-2487)GTA>GTG	p.V829V	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.V829V|PPIP5K2_uc003kof.2_Silent_p.V130V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	829					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2																		---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102890429	102890429	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102890429G>C	uc003koi.2	-						NUDT12_uc011cvb.1_Intron	NM_031438	NP_113626			nudix-type motif 12							nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)														---	---	---	---
EFNA5	1946	broad.mit.edu	37	5	106763092	106763092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:106763092C>T	uc003kol.2	-	2	526	c.244G>A	c.(244-246)GTG>ATG	p.V82M	EFNA5_uc010jbr.1_Missense_Mutation_p.V82M	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	82					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108290576	108290576	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108290576T>C	uc003kop.1	+	12	1860	c.1476T>C	c.(1474-1476)TAT>TAC	p.Y492Y	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Silent_p.Y317Y	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	492	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108523190	108523190	+	Missense_Mutation	SNP	A	G	G	rs149517787		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108523190A>G	uc003kop.1	+	20	2767	c.2383A>G	c.(2383-2385)AAG>GAG	p.K795E	FER_uc011cvg.1_Missense_Mutation_p.K620E	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	795	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108698724	108698724	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108698724C>A	uc003kos.3	-	6	1690	c.1470_splice	c.e6-1	p.G490_splice		NM_014819	NP_055634			praja 2, RING-H2 motif containing						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108717314	108717314	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108717314G>T	uc003kos.3	-	3	342	c.122C>A	c.(121-123)GCT>GAT	p.A41D		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	41					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109049437	109049437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109049437T>C	uc003kou.1	+	2	1315	c.352T>C	c.(352-354)TTT>CTT	p.F118L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	118	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)														---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110428101	110428101	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110428101G>T	uc003kpd.2	+	1	232	c.115G>T	c.(115-117)GGT>TGT	p.G39C	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	39					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110712562	110712562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110712562A>G	uc011cvj.1	+	5	407	c.308A>G	c.(307-309)AAA>AGA	p.K103R	CAMK4_uc003kpf.2_Missense_Mutation_p.K103R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	103	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110730432	110730432	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110730432T>C	uc011cvj.1	+	6	510	c.411T>C	c.(409-411)AGT>AGC	p.S137S	CAMK4_uc003kpf.2_Silent_p.S137S|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	137	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111500719	111500719	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111500719T>C	uc003kpv.1	-	23	2303	c.2029A>G	c.(2029-2031)ATA>GTA	p.I677V	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	677						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111594953	111594953	+	Missense_Mutation	SNP	T	A	A	rs34755755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111594953T>A	uc003kpv.1	-	9	1042	c.768A>T	c.(766-768)CAA>CAT	p.Q256H		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	256	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
APC	324	broad.mit.edu	37	5	112178940	112178940	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112178940A>T	uc010jby.2	+	16	8029	c.7649A>T	c.(7648-7650)GAG>GTG	p.E2550V	APC_uc011cvt.1_Missense_Mutation_p.E2532V|APC_uc003kpz.3_Missense_Mutation_p.E2550V|APC_uc003kpy.3_Missense_Mutation_p.E2550V|APC_uc010jbz.2_Missense_Mutation_p.E2267V|APC_uc010jca.2_Missense_Mutation_p.E1850V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2550	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112200164	112200164	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112200164A>G	uc003kqc.2	+	3	209	c.128A>G	c.(127-129)AAT>AGT	p.N43S	SRP19_uc003kqb.1_Missense_Mutation_p.N43S|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	43					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)														---	---	---	---
MCC	4163	broad.mit.edu	37	5	112406914	112406914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112406914T>C	uc003kqj.3	-	10	1762	c.1232A>G	c.(1231-1233)AAA>AGA	p.K411R	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.K601R|MCC_uc011cwb.1_Missense_Mutation_p.K411R|MCC_uc010jcd.1_Missense_Mutation_p.K373R	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	411					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)														---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822881	113822881	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:113822881A>T	uc003kqo.2	+						KCNN2_uc003kqp.2_Intron|KCNN2_uc010jcg.2_Intron|uc003kqr.1_Intron	NM_021614	NP_067627			small conductance calcium-activated potassium							integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)														---	---	---	---
PGGT1B	5229	broad.mit.edu	37	5	114548274	114548274	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114548274A>G	uc003kqw.3	-	9	980	c.959T>C	c.(958-960)TTG>TCG	p.L320S	PGGT1B_uc003kqx.3_Missense_Mutation_p.L197S|PGGT1B_uc010jch.2_Missense_Mutation_p.L243S	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	320	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)													---	---	---	---
CCDC112	153733	broad.mit.edu	37	5	114610906	114610906	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114610906T>A	uc003kqy.2	-						CCDC112_uc003kqz.2_Intron|CCDC112_uc003kra.2_Intron	NM_152549	NP_689762			coiled-coil domain containing 112 isoform 2												0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)														---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115298718	115298718	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115298718T>A	uc003kro.2	+	1	568	c.404T>A	c.(403-405)GTG>GAG	p.V135E	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	135	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782800	115782800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115782800C>T	uc010jck.2	-	19	3311	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	SEMA6A_uc003krx.3_Missense_Mutation_p.V885M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V247M|SEMA6A_uc003krv.3_Missense_Mutation_p.V295M|SEMA6A_uc003krw.3_Missense_Mutation_p.V345M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V412M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	868	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115824575	115824575	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115824575T>C	uc010jck.2	-						SEMA6A_uc003krx.3_Intron	NM_020796	NP_065847			sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118176600	118176600	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118176600A>C	uc003ksa.2	-	6						NM_173666	NP_775937			DTW domain containing 2												0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)														---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118513830	118513830	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118513830G>A	uc003ksd.2	+	28	7207	c.7026G>A	c.(7024-7026)GAG>GAA	p.E2342E	DMXL1_uc010jcl.1_Silent_p.E2342E	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2342										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970053	118970053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118970053C>T	uc003ksm.2	+	3	820	c.610C>T	c.(610-612)CCA>TCA	p.P204S	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.P204S|FAM170A_uc003kso.2_Missense_Mutation_p.P157S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	204						intracellular	zinc ion binding			skin(1)	1																		---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022012	120022012	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:120022012C>G	uc003ksq.2	+	2	686	c.523C>G	c.(523-525)CCC>GCC	p.P175A	PRR16_uc003ksp.2_Missense_Mutation_p.P152A|PRR16_uc003ksr.2_Missense_Mutation_p.P105A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	175	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)														---	---	---	---
LOX	4015	broad.mit.edu	37	5	121409723	121409723	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121409723A>G	uc003ksu.2	-	4	1395	c.1020T>C	c.(1018-1020)TGT>TGC	p.C340C	LOX_uc010jcp.2_Silent_p.C43C|LOX_uc010jcq.2_Silent_p.C43C|LOX_uc011cwk.1_Silent_p.C110C|LOX_uc010jcr.2_Silent_p.C43C	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		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)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121767674	121767674	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121767674T>A	uc003ksw.1	+	6	1399	c.1193T>A	c.(1192-1194)TTG>TAG	p.L398*	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Nonsense_Mutation_p.L398*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.L445*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.L32*|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.L30*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.L92*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.L338*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	398	ANK 2.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121786643	121786643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121786643C>T	uc003ksw.1	+	10	2307	c.2101C>T	c.(2101-2103)CCG>TCG	p.P701S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P259S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P748S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P335S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P335S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P297S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P335S|SNCAIP_uc003kta.1_Missense_Mutation_p.P333S|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.P395S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P641S|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P217S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	701	ANK 6.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122137823	122137823	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122137823A>G	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122926221	122926221	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122926221A>T	uc003ktm.2	+	9	1678	c.959A>T	c.(958-960)GAT>GTT	p.D320V	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D320V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D320V|CSNK1G3_uc003kto.2_Missense_Mutation_p.D320V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D245V|CSNK1G3_uc011cws.1_Missense_Mutation_p.D208V|CSNK1G3_uc010jda.2_Missense_Mutation_p.D321V	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	320					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123982525	123982525	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123982525C>A	uc003ktq.1	-	4	3675	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktt.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1184						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984764	123984764	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123984764G>A	uc003ktq.1	-	4	1436	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A438V|ZNF608_uc003ktt.1_Missense_Mutation_p.A438V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	438						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124080611	124080611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:124080611A>G	uc003ktq.1	-	1	195	c.72T>C	c.(70-72)GAT>GAC	p.D24D	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.D24D|ZNF608_uc003ktt.1_Silent_p.D24D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	24						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125805413	125805413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125805413A>G	uc003ktu.2	+	3	678	c.248A>G	c.(247-249)AAC>AGC	p.N83S	GRAMD3_uc011cwt.1_Missense_Mutation_p.N98S|GRAMD3_uc011cwv.1_Missense_Mutation_p.N91S|GRAMD3_uc011cww.1_Intron|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_5'UTR|GRAMD3_uc011cwz.1_Missense_Mutation_p.N67S|GRAMD3_uc011cwu.1_Missense_Mutation_p.N67S	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	83										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126206470	126206470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126206470T>C	uc003kuf.2	-	5	1072	c.617A>G	c.(616-618)TAC>TGC	p.Y206C		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	206					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126250640	126250640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126250640T>C	uc003kuf.2	-	3	830	c.375A>G	c.(373-375)AAA>AAG	p.K125K	MARCH3_uc011cxc.1_Silent_p.K125K	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	125					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126783362	126783362	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126783362A>T	uc003kuh.3	+	22	3204	c.2842A>T	c.(2842-2844)ATG>TTG	p.M948L	MEGF10_uc003kui.3_Missense_Mutation_p.M948L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	948	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520070	127520070	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520070T>C	uc003kus.2	+	25	3476	c.3312T>C	c.(3310-3312)TTT>TTC	p.F1104F	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.F1088F	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1104	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520484	127520484	+	Missense_Mutation	SNP	T	C	C	rs116065946	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520484T>C	uc003kus.2	+	26	3603	c.3439T>C	c.(3439-3441)TAC>CAC	p.Y1147H	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.Y1131H	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1147	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610310	+	Missense_Mutation	SNP	A	C	C	rs151053868		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127610310A>C	uc003kuu.2	-	60	8099	c.7660T>G	c.(7660-7662)TTT>GTT	p.F2554V		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127645675	127645675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127645675C>A	uc003kuu.2	-	40	5639	c.5200G>T	c.(5200-5202)GAC>TAC	p.D1734Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1734					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127686696	127686696	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127686696G>A	uc003kuu.2	-	21	3115	c.2676C>T	c.(2674-2676)GAC>GAT	p.D892D	FBN2_uc003kuv.2_Silent_p.D859D	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	892					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127704962	127704962	+	Missense_Mutation	SNP	C	T	T	rs149733159		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127704962C>T	uc003kuu.2	-	16	2600	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	FBN2_uc003kuv.2_Missense_Mutation_p.G688S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	721	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129001264	129001264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129001264G>A	uc003kvb.1	+	16	2480	c.2480G>A	c.(2479-2481)AGC>AAC	p.S827N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129243849	129243849	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129243849T>C	uc003kvd.2	+	2	882	c.882T>C	c.(880-882)ATT>ATC	p.I294I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	294	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)														---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131042175	131042175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131042175A>G	uc003kvs.1	-	9	985	c.843T>C	c.(841-843)TGT>TGC	p.C281C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.C253C|FNIP1_uc010jdm.1_Silent_p.C236C|FNIP1_uc003kvu.2_Silent_p.C281C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	281					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)														---	---	---	---
ACSL6	23305	broad.mit.edu	37	5	131323899	131323899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131323899C>T	uc010jdo.1	-	7	681	c.598G>A	c.(598-600)GTG>ATG	p.V200M	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.V225M|ACSL6_uc003kvy.1_Missense_Mutation_p.V225M|ACSL6_uc003kwb.2_Missense_Mutation_p.V190M|ACSL6_uc003kvz.1_Missense_Mutation_p.V165M|ACSL6_uc003kwa.1_Missense_Mutation_p.V211M|ACSL6_uc010jdn.1_Missense_Mutation_p.V215M|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	200	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131976465	131976465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131976465A>G	uc003kxi.2	+	24	4107	c.3720A>G	c.(3718-3720)GAA>GAG	p.E1240E	RAD50_uc003kxh.2_Silent_p.E1101E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1240					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232641	132232641	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132232641T>C	uc003kyd.2	-	11	2089	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	AFF4_uc011cxk.1_Missense_Mutation_p.T239A|AFF4_uc003kye.1_Missense_Mutation_p.T561A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	561					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132412488	132412488	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132412488A>T	uc003kyj.2	+	7	1087	c.806A>T	c.(805-807)GAG>GTG	p.E269V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	269					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134050861	134050861	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134050861A>T	uc003kzs.2	+						SEC24A_uc011cxu.1_Intron	NM_021982	NP_068817			SEC24 related gene family, member A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134130617	134130617	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134130617G>T	uc003kzw.2	+	14	1872	c.1704G>T	c.(1702-1704)GAG>GAT	p.E568D	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	568	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
CATSPER3	347732	broad.mit.edu	37	5	134303734	134303734	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134303734T>C	uc003lag.2	+	1	121	c.53T>C	c.(52-54)GTT>GCT	p.V18A	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
PITX1	5307	broad.mit.edu	37	5	134364694	134364694	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134364694C>T	uc010jea.2	-	3	1113	c.720G>A	c.(718-720)TCG>TCA	p.S240S	PITX1_uc011cxy.1_Silent_p.S240S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	240	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)														---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134681658	134681658	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134681658C>T	uc003lam.1	-	7	988	c.778G>A	c.(778-780)GCT>ACT	p.A260T	H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A259T|H2AFY_uc003lan.1_Missense_Mutation_p.A257T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A88T|H2AFY_uc003las.1_Missense_Mutation_p.A260T|H2AFY_uc003lat.1_Missense_Mutation_p.A259T	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	260	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TIFAB	497189	broad.mit.edu	37	5	134785592	134785592	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134785592T>C	uc003law.3	-	2	239	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	13											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871139	134871139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134871139C>T	uc003lax.2	-	1	501	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	81					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	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
LOC153328	153328	broad.mit.edu	37	5	135207269	135207269	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135207269G>A	uc003laz.1	+	5	713	c.541G>A	c.(541-543)GCC>ACC	p.A181T	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	181	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692301	135692301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135692301A>G	uc003lbn.1	-	1	775	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TRPC7_uc010jef.1_Missense_Mutation_p.F250L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.F250L|TRPC7_uc010jei.1_Missense_Mutation_p.F250L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	259	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NME5	8382	broad.mit.edu	37	5	137454523	137454523	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137454523T>C	uc003lce.2	-	5	617	c.539A>G	c.(538-540)AAA>AGA	p.K180R	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	180					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492899	137492899	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492899A>G	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Nonstop_Mutation_p.*658R|BRD8_uc003lcg.2_Nonstop_Mutation_p.*952R|BRD8_uc003lci.2_Nonstop_Mutation_p.*867R|BRD8_uc003lch.2_Nonstop_Mutation_p.*758R|BRD8_uc011cym.1_Nonstop_Mutation_p.*863R|BRD8_uc010jer.1_Nonstop_Mutation_p.*833R|BRD8_uc011cyn.1_Nonstop_Mutation_p.*838R	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492939	137492939	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492939T>C	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Silent_p.G644G|BRD8_uc003lcg.2_Silent_p.G938G|BRD8_uc003lci.2_Silent_p.G853G|BRD8_uc003lch.2_Silent_p.G744G|BRD8_uc011cym.1_Silent_p.G849G|BRD8_uc010jer.1_Silent_p.G819G|BRD8_uc011cyn.1_Silent_p.G824G	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137500695	137500695	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137500695A>G	uc003lcf.1	-	12	1494	c.1439T>C	c.(1438-1440)GTC>GCC	p.V480A	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.V259A|BRD8_uc003lcg.2_Missense_Mutation_p.V553A|BRD8_uc003lci.2_Missense_Mutation_p.V483A|BRD8_uc003lch.2_Missense_Mutation_p.V374A|BRD8_uc011cym.1_Missense_Mutation_p.V464A|BRD8_uc010jer.1_Missense_Mutation_p.V449A|BRD8_uc011cyn.1_Missense_Mutation_p.V439A	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	480					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
GFRA3	2676	broad.mit.edu	37	5	137593531	137593531	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137593531G>A	uc003lcn.2	-	4	722	c.582C>T	c.(580-582)CAC>CAT	p.H194H	GFRA3_uc003lco.2_Silent_p.H163H	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	194					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137665314	137665314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137665314C>T	uc003lcp.1	-	3	488	c.217G>A	c.(217-219)GAT>AAT	p.D73N	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.D73N|CDC25C_uc011cyp.1_Missense_Mutation_p.D90N|CDC25C_uc003lcs.1_Missense_Mutation_p.D151N|CDC25C_uc010jet.1_Missense_Mutation_p.D73N|CDC25C_uc003lct.1_Missense_Mutation_p.D73N|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	73					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137677511	137677511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137677511A>G	uc003lcv.2	+	3	562	c.92A>G	c.(91-93)CAT>CGT	p.H31R	FAM53C_uc003lcw.2_Missense_Mutation_p.H31R|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	31										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722193	137722193	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137722193A>G	uc003lcy.1	+	7	1463	c.1263A>G	c.(1261-1263)GCA>GCG	p.A421A	KDM3B_uc010jew.1_Silent_p.A77A|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137844390	137844390	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137844390G>A	uc003ldc.3	-	10	1364	c.1199C>T	c.(1198-1200)TCT>TTT	p.S400F	ETF1_uc011cyv.1_Missense_Mutation_p.S386F|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S367F	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	400					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SIL1	64374	broad.mit.edu	37	5	138282992	138282992	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138282992T>C	uc003ldm.2	-	9	1217	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	SIL1_uc003ldn.2_Silent_p.T399T|SIL1_uc003ldo.2_Silent_p.T400T|SIL1_uc003ldp.2_Silent_p.T400T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	400					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											Marinesco-Sj_gren_syndrome				---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138658651	138658651	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138658651A>T	uc003ldu.2	+	15	2570	c.2143A>T	c.(2143-2145)AAA>TAA	p.K715*	MATR3_uc010jfb.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K377*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K715*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K392*|MATR3_uc011czb.1_Nonsense_Mutation_p.K427*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K715*|MATR3_uc003lea.2_Nonsense_Mutation_p.K715*|MATR3_uc003leb.2_Nonsense_Mutation_p.K377*|MATR3_uc003lec.2_Nonsense_Mutation_p.K392*	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	715	Nuclear localization signal (Potential).					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138718265	138718265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138718265C>T	uc003leh.2	-	2	163	c.66G>A	c.(64-66)CCG>CCA	p.P22P	SLC23A1_uc003leg.2_Silent_p.P22P	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	22					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)													---	---	---	---
MGC29506	51237	broad.mit.edu	37	5	138723491	138723491	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138723491C>A	uc003lei.2	-	4	593	c.533G>T	c.(532-534)TGC>TTC	p.C178F	MGC29506_uc010jfd.2_Missense_Mutation_p.C101F|MGC29506_uc010jfe.2_Missense_Mutation_p.C148F|MGC29506_uc003lej.2_Missense_Mutation_p.C119F	NM_016459	NP_057543	Q8WU39	PERP1_HUMAN	proapoptotic caspase adapter protein precursor	178				C->S: Does not affect activity.	apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139231249	139231249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139231249G>A	uc003lex.1	-	9	1937	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V	NRG2_uc003lev.1_Missense_Mutation_p.A579V|NRG2_uc003lew.1_Missense_Mutation_p.A573V|NRG2_uc003ley.1_Missense_Mutation_p.A565V	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	571	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC4A9	83697	broad.mit.edu	37	5	139742516	139742516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139742516G>A	uc003lfm.2	+	7	934	c.899G>A	c.(898-900)CGT>CAT	p.R300H	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276H|SLC4A9_uc011czg.1_Missense_Mutation_p.R276H|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	300	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884538	139884538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139884538A>G	uc003lfs.1	+	16	3261	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	ANKHD1_uc003lfq.1_Missense_Mutation_p.D1065G|ANKHD1_uc003lfr.2_Missense_Mutation_p.D1046G|ANKHD1_uc003lft.1_Missense_Mutation_p.D257G|ANKHD1_uc003lfu.1_Missense_Mutation_p.D526G|ANKHD1_uc003lfv.1_Missense_Mutation_p.D123G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1046						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928648	139928648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139928648G>T	uc003lfs.1	+	35	7961	c.7837G>T	c.(7837-7839)GGA>TGA	p.G2613*	ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.G1369*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.G758*|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.E87D	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2613						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SRA1	10011	broad.mit.edu	37	5	139930498	139930498	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139930498T>C	uc003lga.2	-						SRA1_uc003lfz.2_Intron|SRA1_uc010jfm.2_Intron	NM_001035235	NP_001030312			steroid receptor RNA activator 1						apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
APBB3	10307	broad.mit.edu	37	5	139941253	139941253	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139941253G>A	uc003lgd.1	-	7	1040	c.681C>T	c.(679-681)AGC>AGT	p.S227S	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Silent_p.S220S|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'UTR	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	222	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139947206	139947206	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139947206C>A	uc003lgg.1	+	3	1180	c.452C>A	c.(451-453)GCT>GAT	p.A151D	SLC35A4_uc003lgh.1_Missense_Mutation_p.A151D	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	151	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IK	3550	broad.mit.edu	37	5	140038640	140038640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140038640G>A	uc003lgq.2	+	12	1177	c.1067G>A	c.(1066-1068)CGA>CAA	p.R356Q		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	356	8.|17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
WDR55	54853	broad.mit.edu	37	5	140048054	140048054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140048054G>A	uc003lgr.3	+	3	461	c.347G>A	c.(346-348)GGC>GAC	p.G116D	WDR55_uc011czl.1_5'Flank	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	116	WD 2.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176593	140176593	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176593G>A	uc003lhd.2	+	1	2150	c.2044G>A	c.(2044-2046)GCG>ACG	p.A682T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A682T|PCDHA2_uc011czy.1_Missense_Mutation_p.A682T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176640	140176640	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176640C>T	uc003lhd.2	+	1	2197	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N697N|PCDHA2_uc011czy.1_Silent_p.N697N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182255	140182255	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140182255C>A	uc003lhf.2	+	1	1473	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S491S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	491	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202809	140202809	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140202809G>A	uc003lhl.2	+	1	1449	c.1449G>A	c.(1447-1449)GCG>GCA	p.A483A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A483A|PCDHA5_uc003lhj.1_Silent_p.A483A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203209	140203209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140203209G>A	uc003lhl.2	+	1	1849	c.1849G>A	c.(1849-1851)GCG>ACG	p.A617T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A617T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A617T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207924	140207924	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140207924T>C	uc003lho.2	+	1	275	c.248T>C	c.(247-249)ATT>ACT	p.I83T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.I83T|PCDHA6_uc011dab.1_Missense_Mutation_p.I83T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214222	140214222	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140214222T>C	uc003lhq.2	+	1	254	c.254T>C	c.(253-255)TTT>TCT	p.F85S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F85S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	85	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222879	140222879	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222879C>T	uc003lhs.2	+	1	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A658V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230182	140230182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140230182T>C	uc003lhu.2	+	1	2826	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I701T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140248964	140248964	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140248964C>T	uc003lia.2	+	1	1134	c.276C>T	c.(274-276)CGC>CGT	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R92R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249904	140249904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140249904T>C	uc003lia.2	+	1	2074	c.1216T>C	c.(1216-1218)TTG>CTG	p.L406L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L406L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250499	140250499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250499C>T	uc003lia.2	+	1	2669	c.1811C>T	c.(1810-1812)GCG>GTG	p.A604V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A604V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250882	140250882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250882G>A	uc003lia.2	+	1	3052	c.2194G>A	c.(2194-2196)GCG>ACG	p.A732T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256548	140256548	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140256548G>A	uc003lic.2	+	1	1618	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R497R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263955	140263955	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263955T>C	uc003lif.2	+	1	2102	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.I701T|PCDHA13_uc003lid.2_Missense_Mutation_p.I701T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140431551	140431551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140431551G>A	uc003lik.1	+	1	573	c.496G>A	c.(496-498)GGT>AGT	p.G166S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	166	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140433299	140433299	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140433299C>A	uc003lik.1	+	1	2321	c.2244C>A	c.(2242-2244)TCC>TCA	p.S748S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	748	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481490	140481490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140481490T>C	uc003lio.2	+	1	1257	c.1257T>C	c.(1255-1257)ATT>ATC	p.I419I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	419	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140501585	140501585	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140501585A>G	uc003lip.1	+	1	5	c.5A>G	c.(4-6)AAG>AGG	p.K2R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	2					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515442C>T	uc003liq.2	+	1	643	c.426C>T	c.(424-426)ATC>ATT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	142	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515648	140515648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515648C>T	uc003liq.2	+	1	849	c.632C>T	c.(631-633)ACA>ATA	p.T211I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	211	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516313	140516313	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516313G>A	uc003liq.2	+	1	1514	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	433	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516700	140516700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516700T>C	uc003liq.2	+	1	1901	c.1684T>C	c.(1684-1686)TAT>CAT	p.Y562H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531928	140531928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140531928C>T	uc003lir.2	+	1	2090	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PCDHB6_uc011dah.1_Missense_Mutation_p.S561L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553330	140553330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140553330C>T	uc003lit.2	+	1	1088	c.914C>T	c.(913-915)GCG>GTG	p.A305V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	305	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554319	140554319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554319G>A	uc003lit.2	+	1	2077	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554538	140554538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554538G>A	uc003lit.2	+	1	2296	c.2122G>A	c.(2122-2124)GCG>ACG	p.A708T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559013	140559013	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559013C>T	uc011dai.1	+	1	1584	c.1398C>T	c.(1396-1398)AGC>AGT	p.S466S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	466	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559044	140559044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559044A>G	uc011dai.1	+	1	1615	c.1429A>G	c.(1429-1431)ACA>GCA	p.T477A	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559515	140559515	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559515C>T	uc011dai.1	+	1	2086	c.1900C>T	c.(1900-1902)CGC>TGC	p.R634C	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564217	140564217	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564217G>A	uc003liv.2	+	1	3238	c.2083G>A	c.(2083-2085)GCC>ACC	p.A695T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	695	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB9	56127	broad.mit.edu	37	5	140568905	140568905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140568905C>T	uc003liw.1	+	3	2014	c.2014C>T	c.(2014-2016)CCT>TCT	p.P672S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588478	140588478	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140588478C>T	uc003liz.2	+	1					PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755			protocadherin beta 12 precursor						homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589857	140589857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140589857G>A	uc003liz.2	+	1	1567	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB12_uc011dak.1_Missense_Mutation_p.V123I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140603685	140603685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140603685A>G	uc003ljb.2	+	1	608	c.608A>G	c.(607-609)GAA>GGA	p.E203G	PCDHB14_uc011dal.1_Missense_Mutation_p.E50G	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	203	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	A	A	rs142658705		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626180	140626180	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140626180C>T	uc003lje.2	+	1	1034	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683071	140683071	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683071G>A	uc003ljf.2	-	1	542	c.362C>T	c.(361-363)GCA>GTA	p.A121V		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	121	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683297	140683297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683297C>T	uc003ljf.2	-	1	316	c.136G>A	c.(136-138)GGC>AGC	p.G46S		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	46	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
TAF7	6879	broad.mit.edu	37	5	140699608	140699608	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140699608T>A	uc003ljg.2	-	1	744	c.4A>T	c.(4-6)AGT>TGT	p.S2C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	2					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140719387	140719387	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140719387A>G	uc003ljk.1	+	1	1034	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.K283K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720359	140720359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720359C>T	uc003ljk.1	+	1	2006	c.1821C>T	c.(1819-1821)CAC>CAT	p.H607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720427	140720427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720427G>A	uc003ljk.1	+	1	2074	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R630Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724148	140724148	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724148A>C	uc003ljm.1	+	1	548	c.548A>C	c.(547-549)AAT>ACT	p.N183T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.N183T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	183	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724815	140724815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724815G>A	uc003ljm.1	+	1	1215	c.1215G>A	c.(1213-1215)GTG>GTA	p.V405V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.V165V|PCDHGA3_uc011dap.1_Silent_p.V405V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	405	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725277	140725277	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140725277G>A	uc003ljm.1	+	1	1677	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A319A|PCDHGA3_uc011dap.1_Silent_p.A559A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730650	140730650	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140730650A>G	uc003ljo.1	+	1	823	c.823A>G	c.(823-825)ACC>GCC	p.T275A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T275A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	275	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735028	140735028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140735028G>A	uc003ljq.1	+	1	261	c.261G>A	c.(259-261)GCG>GCA	p.A87A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A87A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	87	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745654	140745654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140745654A>G	uc003lju.1	+	1	1757	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Y586C	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751474	140751474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751474G>A	uc003ljw.1	+	1	1513	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V505M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	505	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763143	140763143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140763143C>T	uc003lka.1	+	1	677	c.677C>T	c.(676-678)GCC>GTC	p.A226V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A226V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	226	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140764596	140764596	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140764596A>G	uc003lka.1	+	1	2130	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.V710V|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769090	140769090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140769090C>T	uc003lkc.1	+	1	1639	c.1639C>T	c.(1639-1641)CGC>TGC	p.R547C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R547C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	547	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773828	140773828	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773828A>G	uc003lkd.1	+	1	2346	c.1448A>G	c.(1447-1449)GAG>GGG	p.E483G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.E483G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774055	140774055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140774055G>A	uc003lkd.1	+	1	2573	c.1675G>A	c.(1675-1677)GCG>ACG	p.A559T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A559T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784150	140784150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140784150G>A	uc003lkh.1	+	1	1631	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S544N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	544	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799290	140799290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140799290C>T	uc003lkn.1	+	1	2009	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.R622*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140800891	140800891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140800891C>T	uc003lkq.1	+	1	355	c.97C>T	c.(97-99)CGA>TGA	p.R33*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.R33*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.R33*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	33	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812139	140812139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812139T>C	uc003lkt.1	+	1	1982	c.1813T>C	c.(1813-1815)TCC>CCC	p.S605P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S605P	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812199	140812199	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812199G>A	uc003lkt.1	+	1	2042	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E625K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857037	140857037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140857037G>A	uc003lkv.1	+	1	1469	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D452N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	452	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140866146	140866146	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140866146G>A	uc003lky.1	+	1	1406	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R469H|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243630	141243630	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141243630T>C	uc003llq.2	-	3	2383	c.2266A>G	c.(2266-2268)ATT>GTT	p.I756V	PCDH1_uc003llp.2_Missense_Mutation_p.I756V|PCDH1_uc011dbf.1_Missense_Mutation_p.I734V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	756	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244610	141244610	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141244610G>A	uc003llq.2	-	3	1403	c.1286C>T	c.(1285-1287)GCT>GTT	p.A429V	PCDH1_uc003llp.2_Missense_Mutation_p.A429V|PCDH1_uc011dbf.1_Missense_Mutation_p.A407V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	429	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336597	141336597	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141336597C>T	uc003llx.2	-	1	2031	c.820G>A	c.(820-822)GGC>AGC	p.G274S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	274	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RNF14	9604	broad.mit.edu	37	5	141354437	141354437	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141354437C>A	uc003lly.2	+	3	262	c.223C>A	c.(223-225)CTG>ATG	p.L75M	RNF14_uc003llz.2_Missense_Mutation_p.L75M|RNF14_uc003lma.2_Missense_Mutation_p.L75M|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Missense_Mutation_p.L75M|RNF14_uc011dbg.1_Missense_Mutation_p.L75M|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.L75M	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	75	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---
FGF1	2246	broad.mit.edu	37	5	141993704	141993704	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141993704T>C	uc003lmm.2	-	2					FGF1_uc011dbi.1_5'UTR|FGF1_uc003lmn.3_5'UTR|FGF1_uc003lmp.3_5'UTR|FGF1_uc003lmq.2_5'UTR|FGF1_uc010jgj.2_5'UTR|FGF1_uc003lmr.2_5'UTR|FGF1_uc003lms.3_5'UTR	NM_001144892	NP_001138364			fibroblast growth factor 1 (acidic) isoform 1						angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)													---	---	---	---
YIPF5	81555	broad.mit.edu	37	5	143545034	143545034	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:143545034T>C	uc003lnk.3	-	3	686	c.245A>G	c.(244-246)TAT>TGT	p.Y82C	YIPF5_uc003lnl.3_Missense_Mutation_p.Y82C|YIPF5_uc010jgl.2_Missense_Mutation_p.Y28C	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	82	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)															---	---	---	---
PLAC8L1	153770	broad.mit.edu	37	5	145477795	145477795	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145477795C>T	uc003lnv.2	-	2	252	c.180G>A	c.(178-180)ACG>ACA	p.T60T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	60											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145719218	145719218	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145719218C>A	uc003loa.2	+	2	317	c.228C>A	c.(226-228)CCC>CCA	p.P76P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	76					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145838891	145838891	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145838891A>G	uc003lob.2	+	4	923	c.883A>G	c.(883-885)ACA>GCA	p.T295A	TCERG1_uc003loc.2_Missense_Mutation_p.T295A|TCERG1_uc011dbt.1_Missense_Mutation_p.T295A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	295	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145888807	145888807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145888807A>G	uc003lob.2	+	21	3134	c.3094A>G	c.(3094-3096)AGA>GGA	p.R1032G	TCERG1_uc003loc.2_Missense_Mutation_p.R1011G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1032	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
STK32A	202374	broad.mit.edu	37	5	146722576	146722576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146722576A>G	uc010jgn.1	+	6	722	c.442A>G	c.(442-444)AAG>GAG	p.K148E	STK32A_uc003lol.3_Missense_Mutation_p.K148E|STK32A_uc003lom.2_Missense_Mutation_p.K148E|STK32A_uc011dbw.1_Missense_Mutation_p.K148E	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	148	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146780384	146780384	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146780384C>T	uc003lon.1	-	10	1091	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	DPYSL3_uc003loo.2_Silent_p.Q441Q	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	327					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146788299	146788299	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146788299G>T	uc003lon.1	-	7	792	c.682C>A	c.(682-684)CCA>ACA	p.P228T	DPYSL3_uc003loo.2_Missense_Mutation_p.P342T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	228					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795370	146795370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146795370G>A	uc003lon.1	-	4	490	c.380C>T	c.(379-381)GCT>GTT	p.A127V	DPYSL3_uc003loo.2_Missense_Mutation_p.A241V	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SPINK1	6690	broad.mit.edu	37	5	147207595	147207595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147207595A>G	uc003los.2	-	3	304	c.184T>C	c.(184-186)TTT>CTT	p.F62L		NM_003122	NP_003113	P00995	ISK1_HUMAN	serine protease inhibitor, Kazal type 1	62	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											Hereditary_Pancreatitis				---	---	---	---
SPINK14	408187	broad.mit.edu	37	5	147553843	147553843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147553843C>T	uc003loz.1	+	3	158	c.158C>T	c.(157-159)ACG>ATG	p.T53M		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	53	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0																		---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147796770	147796770	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147796770A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147813094	147813094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147813094A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206582	148206582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148206582G>A	uc003lpr.1	+	1	427	c.188G>A	c.(187-189)CGT>CAT	p.R63H	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	63	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207139	148207139	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148207139G>A	uc003lpr.1	+	1	984	c.745G>A	c.(745-747)GAG>AAG	p.E249K	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	249	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148420185	148420185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148420185T>C	uc003lpu.2	-	7	939	c.787A>G	c.(787-789)ACA>GCA	p.T263A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.T256A|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.T148A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	263							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148626049	148626049	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148626049C>A	uc003lpy.2	+	17	1742	c.1491C>A	c.(1489-1491)CCC>CCA	p.P497P	ABLIM3_uc003lpz.1_Silent_p.P497P|ABLIM3_uc003lqa.1_Silent_p.P394P|ABLIM3_uc003lqb.2_Silent_p.P386P|ABLIM3_uc003lqc.1_Silent_p.P464P|ABLIM3_uc003lqd.1_Silent_p.P402P|ABLIM3_uc003lqf.2_Silent_p.P386P|ABLIM3_uc003lqe.1_Silent_p.P386P	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	497					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148687000	148687000	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148687000T>A	uc003lqh.2	+	7	702	c.571T>A	c.(571-573)TCC>ACC	p.S191T	AFAP1L1_uc003lqg.3_Missense_Mutation_p.S191T|AFAP1L1_uc010jgy.2_Missense_Mutation_p.S191T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	191							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148754010	148754010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148754010C>T	uc003lqo.2	-	3	515	c.465G>A	c.(463-465)CCG>CCA	p.P155P		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	155					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148756561	148756561	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148756561G>T	uc003lqo.2	-	2	99	c.49C>A	c.(49-51)CTG>ATG	p.L17M		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	17					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149001301	149001301	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149001301A>T	uc003lra.1	+	9	1075	c.1011A>T	c.(1009-1011)CAA>CAT	p.Q337H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	337	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212461	149212461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149212461C>T	uc003lrc.2	+	5	867	c.825C>T	c.(823-825)CCC>CCT	p.P275P	PPARGC1B_uc003lrb.1_Silent_p.P275P|PPARGC1B_uc003lrd.2_Silent_p.P236P|PPARGC1B_uc003lrf.2_Silent_p.P254P|PPARGC1B_uc003lre.1_Silent_p.P254P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	275					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149361002	149361002	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149361002G>A	uc003lrh.2	+	3	2114	c.1846G>A	c.(1846-1848)GCA>ACA	p.A616T		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	616	STAS.|Extracellular (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149456864	149456864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149456864G>A	uc003lrl.2	-	5	1059	c.864C>T	c.(862-864)TCC>TCT	p.S288S	CSF1R_uc011dcd.1_Silent_p.S140S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S288S|CSF1R_uc011dce.1_Silent_p.S288S|CSF1R_uc011dcf.1_Silent_p.S288S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	288	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)													---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149583563	149583563	+	Missense_Mutation	SNP	G	A	A	rs139016893		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149583563G>A	uc003lrr.2	+	10	1665	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	432	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)													---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677666	149677666	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149677666A>C	uc003lrv.2	-	2	1410	c.821T>G	c.(820-822)GTG>GGG	p.V274G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	274						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755412	149755412	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149755412C>T	uc003lry.2	+	12	1941	c.1833C>T	c.(1831-1833)AGC>AGT	p.S611S	TCOF1_uc003lrw.2_Silent_p.S611S|TCOF1_uc011dch.1_Silent_p.S611S|TCOF1_uc003lrz.2_Silent_p.S611S|TCOF1_uc003lrx.2_Silent_p.S534S|TCOF1_uc003lsa.2_Silent_p.S534S|TCOF1_uc011dci.1_Silent_p.S100S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	611					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150027979	150027979	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150027979C>A	uc003lsn.2	+	3	1248	c.874C>A	c.(874-876)CGA>AGA	p.R292R	SYNPO_uc003lso.3_Silent_p.R48R|SYNPO_uc003lsp.2_Silent_p.R48R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	292					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150138455	150138455	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150138455C>T	uc003lsv.2	-	1	203	c.101G>A	c.(100-102)AGC>AAC	p.S34N	DCTN4_uc003lsu.2_5'Flank|DCTN4_uc010jhi.2_Missense_Mutation_p.S34N|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_5'Flank	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	34						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275987	150275987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150275987C>T	uc003lsy.1	-	6	1081	c.814G>A	c.(814-816)GTT>ATT	p.V272I	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	272	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A3	285641	broad.mit.edu	37	5	150678148	150678148	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150678148T>C	uc003ltw.2	-						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_5'Flank|SLC36A3_uc003ltx.2_Intron	NM_181774	NP_861439			solute carrier family 36, member 3 isoform 2							integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150704980	150704980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150704980G>A	uc003lty.2	-	8	1007	c.877C>T	c.(877-879)CGC>TGC	p.R293C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.R95C|SLC36A2_uc010jhv.2_Missense_Mutation_p.R293C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	293	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A1	206358	broad.mit.edu	37	5	150838460	150838460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150838460G>A	uc003luc.2	+	2	324	c.107G>A	c.(106-108)GGC>GAC	p.G36D	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.G36D|SLC36A1_uc010jhw.1_Missense_Mutation_p.G36D	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	36	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)													---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150887158	150887158	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150887158G>A	uc003lue.3	-	22	12087	c.12074C>T	c.(12073-12075)GCG>GTG	p.A4025V	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A632V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4025	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150901461	150901461	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150901461T>C	uc003lue.3	-	18	10706	c.10693A>G	c.(10693-10695)ACC>GCC	p.T3565A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T258A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3565	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922517	150922517	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150922517T>C	uc003lue.3	-	9	8184	c.8171A>G	c.(8170-8172)TAC>TGC	p.Y2724C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2724	Cadherin 24.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945761	150945761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150945761A>G	uc003lue.3	-	1	2745	c.2732T>C	c.(2731-2733)CTG>CCG	p.L911P	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L911P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	911	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151208616	151208616	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151208616T>C	uc003lut.2	-	8	1212	c.925A>G	c.(925-927)AAA>GAA	p.K309E	GLRA1_uc003lur.2_Missense_Mutation_p.K309E|GLRA1_uc003lus.2_Missense_Mutation_p.K226E	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	309					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153174264	153174264	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153174264G>A	uc003lva.3	+						GRIA1_uc003luy.3_Missense_Mutation_p.G785D|GRIA1_uc003luz.3_Intron|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.G705D|GRIA1_uc011dcx.1_Missense_Mutation_p.G716D|GRIA1_uc011dcy.1_Intron|GRIA1_uc011dcz.1_Missense_Mutation_p.G795D	NM_001114183	NP_001107655			glutamate receptor, ionotropic, AMPA 1 isoform						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153372657	153372657	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153372657G>C	uc003lvb.2	-	14	1985	c.1397C>G	c.(1396-1398)GCC>GGC	p.A466G	FAM114A2_uc003lvc.2_Missense_Mutation_p.A466G|FAM114A2_uc003lvd.2_Missense_Mutation_p.A466G|FAM114A2_uc003lve.2_Missense_Mutation_p.A282G|FAM114A2_uc011dda.1_Missense_Mutation_p.A396G	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	466							purine nucleotide binding				0																		---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153792469	153792469	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153792469G>A	uc003lvh.2	+	10	1539	c.1407G>A	c.(1405-1407)GGG>GGA	p.G469G	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.G310G|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.G140G	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	469	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
SAP30L	79685	broad.mit.edu	37	5	153830686	153830686	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153830686T>A	uc003lvk.2	+	2	885	c.237T>A	c.(235-237)AAT>AAA	p.N79K	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154169932	154169932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154169932C>T	uc003lvp.2	+	2	913	c.484C>T	c.(484-486)CGC>TGC	p.R162C	LARP1_uc003lvo.2_Missense_Mutation_p.R85C|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	162							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154174725	154174725	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154174725C>A	uc003lvp.2	+						LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_Intron	NM_033551	NP_291029			la related protein isoform 2								protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154185462	154185462	+	Silent	SNP	G	A	A	rs138080657		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154185462G>A	uc003lvp.2	+	15	2997	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	LARP1_uc003lvo.2_Silent_p.T779T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	856							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154287325	154287325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154287325G>A	uc003lvx.3	-	16	2304	c.2221C>T	c.(2221-2223)CCC>TCC	p.P741S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P740S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	741	Poly-Lys.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154393675	154393675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154393675G>A	uc010jih.1	+	1	416	c.256G>A	c.(256-258)GCC>ACC	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514181	156514181	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156514181A>G	uc003lwk.1	-	7	982	c.838T>C	c.(838-840)TAT>CAT	p.Y280H		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	280	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533902	156533902	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156533902C>T	uc003lwk.1	-	2	274	c.130G>A	c.(130-132)GCC>ACC	p.A44T	HAVCR2_uc003lwl.2_Missense_Mutation_p.A44T	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	44	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589648	156589648	+	Missense_Mutation	SNP	G	T	T	rs17852327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156589648G>T	uc003lwn.2	-	2	1728	c.1628C>A	c.(1627-1629)GCC>GAC	p.A543D		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	543						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590270	156590270	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156590270T>C	uc003lwn.2	-	2	1106	c.1006A>G	c.(1006-1008)ATA>GTA	p.I336V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	336						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
ITK	3702	broad.mit.edu	37	5	156608049	156608049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156608049A>G	uc003lwo.1	+	1	143	c.61A>G	c.(61-63)ACT>GCT	p.T21A		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)					T	SYK	peripheral T-cell lymphoma								---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156895765	156895765	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156895765G>T	uc003lwx.3	+	4	672	c.556G>T	c.(556-558)GCA>TCA	p.A186S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A167S|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	186	Extracellular (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156920054	156920054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156920054C>T	uc003lwz.2	-	16	1899	c.1835G>A	c.(1834-1836)CGA>CAA	p.R612Q	ADAM19_uc003lww.1_Missense_Mutation_p.R345Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R211Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R543Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	612	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157073639	157073639	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:157073639A>C	uc003lxb.1	-						SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Intron	NM_178424	NP_848511			SRY (sex determining region Y)-box 30 isoform a						regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158596721	158596721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158596721A>G	uc003lxp.2	-	7	1217	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	RNF145_uc011ddy.1_Missense_Mutation_p.Y316H|RNF145_uc003lxo.1_Missense_Mutation_p.Y330H|RNF145_uc011ddz.1_Missense_Mutation_p.Y319H|RNF145_uc010jiq.1_Missense_Mutation_p.Y332H|RNF145_uc011dea.1_Missense_Mutation_p.Y318H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	302						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158747327	158747327	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158747327G>A	uc003lxr.1	-	5	726	c.684C>T	c.(682-684)TTC>TTT	p.F228F		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	228					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159832114	159832114	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159832114C>T	uc003lyg.2	-	13	1471	c.1316G>A	c.(1315-1317)GGC>GAC	p.G439D		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	439					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161317996	161317996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161317996A>T	uc010jiw.2	+	9	1264	c.796A>T	c.(796-798)ATT>TTT	p.I266F	GABRA1_uc010jix.2_Missense_Mutation_p.I266F|GABRA1_uc010jiy.2_Missense_Mutation_p.I266F|GABRA1_uc003lyx.3_Missense_Mutation_p.I266F|GABRA1_uc010jiz.2_Missense_Mutation_p.I266F|GABRA1_uc010jja.2_Missense_Mutation_p.I266F|GABRA1_uc010jjb.2_Missense_Mutation_p.I266F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	266	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)													---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580347	161580347	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161580347C>A	uc003lyz.3	+	9	1735	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	GABRG2_uc010jjc.2_Silent_p.V507V|GABRG2_uc003lyy.3_Silent_p.V467V|GABRG2_uc011dej.1_Silent_p.V364V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	459	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167674382	167674382	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167674382C>T	uc010jjd.2	+	27	6411	c.6411C>T	c.(6409-6411)GCC>GCT	p.A2137A	ODZ2_uc003lzr.3_Silent_p.A1907A|ODZ2_uc003lzt.3_Silent_p.A1510A|ODZ2_uc010jje.2_Silent_p.A1401A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167855037	167855037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167855037G>T	uc003lzu.2	+	12	1904	c.1811_splice	c.e12-1	p.A604_splice	WWC1_uc003lzv.2_Splice_Site_p.A604_splice|WWC1_uc011den.1_Splice_Site_p.A604_splice|WWC1_uc003lzw.2_Splice_Site_p.A403_splice	NM_015238	NP_056053			WW and C2 domain containing 1 isoform 3						cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)														---	---	---	---
FBLL1	345630	broad.mit.edu	37	5	167957293	167957293	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167957293G>A	uc011dep.1	+	1	712	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NR_024356				RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1;          EC=2.1.1.-;												0																		---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168244401	168244401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168244401G>A	uc003mab.2	-	8	1117	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.R233*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R233*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R30*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	233	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169025591	169025591	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169025591T>C	uc003mae.3	+						CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255			coiled-coil domain containing 99						cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139186	169139186	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139186A>G	uc003maf.2	+	17	1698	c.1618A>G	c.(1618-1620)ACT>GCT	p.T540A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Missense_Mutation_p.T58A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	540	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139203	169139203	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139203A>G	uc003maf.2	+	17	1715	c.1635A>G	c.(1633-1635)GGA>GGG	p.G545G	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Silent_p.G63G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	545	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188543	169188543	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169188543A>G	uc003maf.2	+	25	2548	c.2468A>G	c.(2467-2469)TAC>TGC	p.Y823C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y315C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	823					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169445980	169445980	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169445980C>T	uc003maf.2	+	33	3329	c.3249C>T	c.(3247-3249)TGC>TGT	p.C1083C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.C575C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1083	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169461563	169461563	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169461563C>T	uc003maf.2	+						DOCK2_uc011der.1_Intron|DOCK2_uc010jjm.2_Intron	NM_004946	NP_004937			dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169675795	169675795	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169675795T>A	uc003man.1	-	21	1715	c.1508A>T	c.(1507-1509)GAC>GTC	p.D503V	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.D298V|LCP2_uc011det.1_Missense_Mutation_p.D332V	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	503	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169685133	169685133	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169685133A>G	uc003man.1	-	16	1215	c.1008T>C	c.(1006-1008)CCT>CCC	p.P336P	LCP2_uc011des.1_Silent_p.P131P|LCP2_uc011det.1_Silent_p.P165P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	336					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	170149719	170149719	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170149719C>G	uc003mas.2	+	6	892	c.363C>G	c.(361-363)GAC>GAG	p.D121E	KCNIP1_uc003map.2_Missense_Mutation_p.D119E|KCNIP1_uc003mat.2_Missense_Mutation_p.D110E|KCNIP1_uc010jjp.2_Missense_Mutation_p.D82E|KCNIP1_uc010jjq.2_Missense_Mutation_p.D135E	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	121	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170669797	170669797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170669797T>A	uc003mba.2	+	24	2765	c.2749T>A	c.(2749-2751)TCT>ACT	p.S917T	RANBP17_uc003mbb.2_Missense_Mutation_p.S242T|RANBP17_uc003mbd.2_Missense_Mutation_p.S280T|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	917					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170725821	170725821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170725821G>A	uc003mba.2	+	28	3242	c.3226G>A	c.(3226-3228)GAT>AAT	p.D1076N	RANBP17_uc003mbb.2_Missense_Mutation_p.D401N|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1076					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
NPM1	4869	broad.mit.edu	37	5	170818392	170818392	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170818392A>T	uc011dex.1	+	4	357	c.222A>T	c.(220-222)GTA>GTT	p.V74V	NPM1_uc003mbh.2_Silent_p.V74V|NPM1_uc003mbi.2_Silent_p.V74V|NPM1_uc003mbj.2_Silent_p.V74V	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	74	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T|F 	ALK|RARA|MLF1	NHL|APL|AML								---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171303497	171303497	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171303497A>T	uc003mbm.1	-	8	1321	c.950T>A	c.(949-951)ATC>AAC	p.I317N	FBXW11_uc011dey.1_Missense_Mutation_p.I285N|FBXW11_uc003mbl.1_Missense_Mutation_p.I304N|FBXW11_uc003mbn.1_Missense_Mutation_p.I283N	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	317					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172386991	172386991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172386991C>T	uc003mcc.2	+	2	157	c.115C>T	c.(115-117)CGG>TGG	p.R39W	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172660160	172660160	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172660160G>A	uc003mcm.1	-	2	563	c.387C>T	c.(385-387)AAC>AAT	p.N129N	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	129					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
STC2	8614	broad.mit.edu	37	5	172752893	172752893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172752893T>C	uc003mco.1	-	2	1582	c.272A>G	c.(271-273)AAC>AGC	p.N91S	STC2_uc003mcn.1_Missense_Mutation_p.N6S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	91					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
HMP19	51617	broad.mit.edu	37	5	173531319	173531319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173531319G>A	uc003mcx.2	+	4	447	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	HMP19_uc011dfh.1_Missense_Mutation_p.A5T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	101	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176004773	176004773	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176004773G>A	uc003mem.1	+	14	1552	c.1486G>A	c.(1486-1488)GGC>AGC	p.G496S	CDHR2_uc003men.1_Missense_Mutation_p.G496S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	496	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176005480	176005480	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176005480C>T	uc003mem.1	+	16	1755	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	CDHR2_uc003men.1_Silent_p.G563G	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	563	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011262	176011262	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176011262T>C	uc003mem.1	+	18	2194	c.2128_splice	c.e18+2	p.G710_splice	CDHR2_uc003men.1_Splice_Site_p.G710_splice	NM_017675	NP_060145			protocadherin LKC precursor						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176295830	176295830	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176295830C>T	uc003mey.2	+	5	778	c.586C>T	c.(586-588)CCC>TCC	p.P196S	UNC5A_uc003mex.1_Missense_Mutation_p.P196S|UNC5A_uc010jkg.1_Missense_Mutation_p.P156S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	196	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176297464	176297464	+	Missense_Mutation	SNP	G	A	A	rs147243158	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176297464G>A	uc003mey.2	+	6	1007	c.815G>A	c.(814-816)CGC>CAC	p.R272H	UNC5A_uc003mex.1_Missense_Mutation_p.R272H|UNC5A_uc010jkg.1_Missense_Mutation_p.R232H	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	272	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306343	176306343	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176306343G>T	uc003mey.2	+	14	2409	c.2217G>T	c.(2215-2217)GAG>GAT	p.E739D		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	739	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
HK3	3101	broad.mit.edu	37	5	176314586	176314586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176314586G>A	uc003mfa.2	-	11	1558	c.1466C>T	c.(1465-1467)CCA>CTA	p.P489L	HK3_uc003mez.2_Missense_Mutation_p.P45L	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	489	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176382954	176382954	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176382954A>G	uc011dfp.1	-						UIMC1_uc003mfc.1_Intron|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374			ubiquitin interaction motif containing 1						double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176562872	176562872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176562872C>T	uc003mfr.3	+	2	906	c.768C>T	c.(766-768)GCC>GCT	p.A256A	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.A256A|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.A256A|NSD1_uc003mfq.2_Silent_p.A256A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	256					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176694615	176694615	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176694615C>T	uc003mfr.3	+	15	5337	c.5199C>T	c.(5197-5199)TGC>TGT	p.C1733C	NSD1_uc003mft.3_Silent_p.C1464C|NSD1_uc003mfs.1_Silent_p.C1630C|NSD1_uc011dfx.1_Silent_p.C1381C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1733	PHD-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707623	176707623	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176707623C>T	uc003mfr.3	+	18	5818	c.5680C>T	c.(5680-5682)CGT>TGT	p.R1894C	NSD1_uc003mft.3_Missense_Mutation_p.R1625C|NSD1_uc003mfs.1_Missense_Mutation_p.R1791C|NSD1_uc011dfx.1_Missense_Mutation_p.R1542C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1894	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
MXD3	83463	broad.mit.edu	37	5	176734623	176734623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176734623T>C	uc003mgb.2	-	6	1048	c.587A>G	c.(586-588)CAC>CGC	p.H196R	MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.T222A|MXD3_uc003mgc.2_Missense_Mutation_p.H186R	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176765512	176765512	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176765512T>C	uc003mge.2	-	3	647	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	LMAN2_uc003mgd.2_Missense_Mutation_p.Y137C	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	137	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176943356	176943356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176943356G>A	uc003mho.2	-	3	252	c.231C>T	c.(229-231)ATC>ATT	p.I77I	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	77					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)															---	---	---	---
TMED9	54732	broad.mit.edu	37	5	177022356	177022356	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177022356C>T	uc003mhx.2	+	5	650	c.647C>T	c.(646-648)GCC>GTC	p.A216V	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	216	Helical; (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419899	177419899	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177419899C>T	uc003mif.1	-	3	801	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	164					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177682016	177682016	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177682016G>A	uc003mje.2	-	16	1252	c.894C>T	c.(892-894)GGC>GGT	p.G298G	COL23A1_uc010jkt.2_Silent_p.G180G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	298	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)														---	---	---	---
ZNF354B	117608	broad.mit.edu	37	5	178293336	178293336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178293336T>C	uc003mjl.2	+	3	351	c.125T>C	c.(124-126)GTG>GCG	p.V42A	ZNF354B_uc003mjm.2_Missense_Mutation_p.V42A	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
ZFP2	80108	broad.mit.edu	37	5	178359389	178359389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178359389T>C	uc003mjn.1	+	5	1584	c.1075T>C	c.(1075-1077)TGT>CGT	p.C359R	ZFP2_uc010jky.2_Missense_Mutation_p.C359R|ZFP2_uc010jkx.1_Missense_Mutation_p.C359R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	359	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178408805	178408805	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178408805C>T	uc003mjr.2	-	10	2666	c.2487G>A	c.(2485-2487)TCG>TCA	p.S829S	GRM6_uc003mjq.2_Silent_p.S232S	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	829	Helical; Name=7; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413301	178413301	+	Missense_Mutation	SNP	C	T	T	rs150850494		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413301C>T	uc003mjr.2	-	8	2133	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A235T|GRM6_uc003mjs.1_Missense_Mutation_p.A272T	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	652	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178556924	178556924	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178556924T>C	uc003mjw.2	-							NM_014244	NP_055059			ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178699971	178699971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178699971A>G	uc003mjw.2	-	3	629	c.629T>C	c.(628-630)GTG>GCG	p.V210A	ADAMTS2_uc011dgm.1_Missense_Mutation_p.V210A	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179201856	179201856	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179201856A>G	uc003mkm.2	+	5	3292	c.3029A>G	c.(3028-3030)GAC>GGC	p.D1010G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	1010					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
SQSTM1	8878	broad.mit.edu	37	5	179251252	179251252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179251252G>A	uc003mkw.3	+	4	697	c.602G>A	c.(601-603)GGT>GAT	p.G201D	SQSTM1_uc011dgr.1_Missense_Mutation_p.G117D|SQSTM1_uc011dgs.1_Missense_Mutation_p.G117D|SQSTM1_uc003mkv.3_Missense_Mutation_p.G201D|SQSTM1_uc003mkx.2_Missense_Mutation_p.G117D	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	201	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											Paget_Disease_of_Bone				---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179302057	179302057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179302057G>A	uc003mlh.2	-	12	2068	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	TBC1D9B_uc003mli.2_Silent_p.S677S|TBC1D9B_uc003mlj.2_Silent_p.S677S|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	677	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
RASGEF1C	255426	broad.mit.edu	37	5	179564616	179564616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179564616G>A	uc003mlq.2	-	2	571	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	RASGEF1C_uc003mlr.2_Nonsense_Mutation_p.Q92*|RASGEF1C_uc003mlp.3_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	92	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179688787	179688787	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179688787C>T	uc003mls.3	-	5	618	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	MAPK9_uc003mlt.3_Missense_Mutation_p.C116Y|MAPK9_uc010jlc.2_Missense_Mutation_p.C116Y|MAPK9_uc003mlv.3_Missense_Mutation_p.C116Y|MAPK9_uc011dgx.1_Missense_Mutation_p.C116Y	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	116	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179696371	179696371	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179696371A>T	uc003mls.3	-	3	432	c.161T>A	c.(160-162)GTC>GAC	p.V54D	MAPK9_uc003mlt.3_Missense_Mutation_p.V54D|MAPK9_uc010jlc.2_Missense_Mutation_p.V54D|MAPK9_uc003mlv.3_Missense_Mutation_p.V54D|MAPK9_uc011dgx.1_Missense_Mutation_p.V54D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	54	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180049752	180049752	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180049752G>A	uc003mma.3	-	12	1715	c.1636C>T	c.(1636-1638)CTC>TTC	p.L546F	FLT4_uc003mlz.3_Missense_Mutation_p.L546F|FLT4_uc003mmb.1_Missense_Mutation_p.L79F|FLT4_uc011dgy.1_Missense_Mutation_p.L546F	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	546	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
OR2Y1	134083	broad.mit.edu	37	5	180166620	180166620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180166620C>T	uc003mmf.1	-	1	439	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219453	180219453	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180219453C>T	uc003mmg.3	-	2	1014	c.519G>A	c.(517-519)CCG>CCA	p.P173P	MGAT1_uc010jlf.2_Silent_p.P173P|MGAT1_uc010jlg.2_Silent_p.P173P|MGAT1_uc003mmh.3_Silent_p.P173P|MGAT1_uc010jlh.2_Silent_p.P173P|MGAT1_uc003mmi.3_Silent_p.P173P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582008	180582008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180582008T>C	uc011dhj.1	+	1	66	c.66T>C	c.(64-66)AGT>AGC	p.S22S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687728	180687728	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180687728G>A	uc003mnp.2	-	1	392	c.87C>T	c.(85-87)GAC>GAT	p.D29D	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	29	RING-type.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)														---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	335142	335142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:335142C>T	uc003msx.2	+	4	606	c.167C>T	c.(166-168)GCG>GTG	p.A56V	DUSP22_uc011dhn.1_Missense_Mutation_p.A56V|DUSP22_uc003msy.1_Missense_Mutation_p.A13V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)														---	---	---	---
IRF4	3662	broad.mit.edu	37	6	405036	405036	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:405036A>G	uc003msz.3	+	8	1231	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H372R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	373					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)				T	IGH@	MM 								---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	486729	486729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:486729C>T	uc003mtd.2	-	28	2851	c.2717G>A	c.(2716-2718)AGC>AAC	p.S906N	EXOC2_uc003mte.2_Missense_Mutation_p.S906N|EXOC2_uc011dho.1_Missense_Mutation_p.S501N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	906					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	532476	532476	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:532476A>T	uc003mtd.2	-	23	2507	c.2373T>A	c.(2371-2373)CCT>CCA	p.P791P	EXOC2_uc003mte.2_Silent_p.P791P|EXOC2_uc011dho.1_Silent_p.P386P	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	791					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	564541	564541	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:564541T>A	uc003mtd.2	-						EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773			Sec5 protein						exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
GMDS	2762	broad.mit.edu	37	6	1960171	1960171	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1960171C>T	uc003mtq.2	-	6	763	c.573G>A	c.(571-573)GTG>GTA	p.V191V		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	191					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)														---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2680510	2680510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2680510A>G	uc003mty.3	-	8	1000	c.703T>C	c.(703-705)TGT>CGT	p.C235R	MYLK4_uc003mtx.3_5'Flank	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	235	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)																---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2954826	2954826	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2954826C>A	uc003muk.2	-	3	2425	c.430G>T	c.(430-432)GGT>TGT	p.G144C	SERPINB6_uc003mui.2_Missense_Mutation_p.G27C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G144C|SERPINB6_uc003mum.2_Missense_Mutation_p.G144C|SERPINB6_uc003mun.2_Missense_Mutation_p.G144C|SERPINB6_uc003muo.2_Missense_Mutation_p.G144C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	144					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)													---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850883	3850883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850883G>T	uc003mvu.2	+	2	950	c.838G>T	c.(838-840)GCC>TCC	p.A280S		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	280						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4031897	4031897	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4031897A>G	uc003mvv.2	+	2	237	c.146A>G	c.(145-147)AAA>AGA	p.K49R	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	49	His-rich.|Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032892	4032892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032892T>C	uc003mvv.2	+	2	1232	c.1141T>C	c.(1141-1143)TCC>CCC	p.S381P	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	381	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4053072	4053072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4053072A>G	uc003mvv.2	+	11	2522	c.2431A>G	c.(2431-2433)ATC>GTC	p.I811V	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	811	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4716115	4716115	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4716115G>A	uc003mwi.2	+	2	234	c.103G>A	c.(103-105)GTG>ATG	p.V35M		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	35					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4892095	4892095	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4892095G>A	uc003mwi.2	+	4	466	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CDYL_uc003mwj.2_Missense_Mutation_p.R58H|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	112	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5613496	5613496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5613496C>T	uc010jnv.1	+	6	1496	c.1160C>T	c.(1159-1161)ACA>ATA	p.T387I	FARS2_uc003mwr.2_Missense_Mutation_p.T387I	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	387	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)													---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7374252	7374252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7374252G>A	uc003mxi.2	-	4	1113	c.392C>T	c.(391-393)ACT>ATT	p.T131I	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T22I|CAGE1_uc003mxk.1_Missense_Mutation_p.T22I	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	267											0	Ovarian(93;0.0418)																	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7571730	7571730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7571730C>T	uc003mxp.1	+	14	2095	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	DSP_uc003mxq.1_Missense_Mutation_p.R606W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	606	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7580889	7580889	+	Missense_Mutation	SNP	T	C	C	rs143380327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7580889T>C	uc003mxp.1	+	23	4745	c.4466T>C	c.(4465-4467)CTG>CCG	p.L1489P	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1489	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584584	7584584	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7584584C>T	uc003mxp.1	+	24	7368	c.7089C>T	c.(7087-7089)CAC>CAT	p.H2363H	DSP_uc003mxq.1_Silent_p.H1764H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2363	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SLC35B3	51000	broad.mit.edu	37	6	8428191	8428191	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8428191A>G	uc010joe.2	-	4	564	c.398T>C	c.(397-399)CTT>CCT	p.L133P	SLC35B3_uc003mya.2_Missense_Mutation_p.L101P|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L133P|SLC35B3_uc011did.1_Missense_Mutation_p.L133P|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	133	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)																	---	---	---	---
C6orf218	221718	broad.mit.edu	37	6	10430275	10430275	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10430275T>C	uc003myz.2	-	3		c.761A>G				NR_027793				Homo sapiens chromosome 6 open reading frame 218, mRNA (cDNA clone IMAGE:3917693).												0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.124)														OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAK1IP1	55003	broad.mit.edu	37	6	10709645	10709645	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10709645A>G	uc003mzg.2	+	10	1170	c.1139A>G	c.(1138-1140)GAA>GGA	p.E380G		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	380					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10796316	10796316	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10796316A>G	uc003mzl.2	-	8	1287	c.1058T>C	c.(1057-1059)CTG>CCG	p.L353P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L353P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10802142	10802142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10802142G>A	uc003mzl.2	-	7	1043	c.814C>T	c.(814-816)CGA>TGA	p.R272*	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Nonsense_Mutation_p.R272*|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	272	Protein kinase.		R -> P (in a breast infiltrating ductal carcinoma sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R272P(2)		breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)														OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ELOVL2	54898	broad.mit.edu	37	6	10989995	10989995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10989995T>C	uc003mzp.3	-	7	867	c.706A>G	c.(706-708)ATC>GTC	p.I236V		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	236	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191156	11191156	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11192566	11192566	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11192566T>C	uc003mzv.2	-						NEDD9_uc010joz.2_Intron|NEDD9_uc003mzw.3_Intron	NM_006403	NP_006394			neural precursor cell expressed, developmentally						actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11565992	11565992	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11565992A>T	uc010jpa.2	+	2	191	c.191A>T	c.(190-192)CAT>CTT	p.H64L		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	64	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13588569	13588569	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13588569C>G	uc003nay.2	+	4	418	c.122C>G	c.(121-123)GCA>GGA	p.A41G	SIRT5_uc003naw.2_Missense_Mutation_p.A41G|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.A41G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	41	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13634706	13634706	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13634706G>A	uc003nbb.2	-	11	1811	c.1752C>T	c.(1750-1752)AGC>AGT	p.S584S	RANBP9_uc003nba.2_Silent_p.S243S	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	584					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)															---	---	---	---
CCDC90A	63933	broad.mit.edu	37	6	13802559	13802559	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13802559T>C	uc003nbd.2	-	3	683	c.555A>G	c.(553-555)GCA>GCG	p.A185A	CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	185						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496890	15496890	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15496890A>G	uc003nbj.2	+	7	1678	c.1434A>G	c.(1432-1434)AGA>AGG	p.R478R	JARID2_uc011diu.1_Silent_p.R342R|JARID2_uc011div.1_Silent_p.R306R|JARID2_uc011diw.1_Silent_p.R440R	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	478					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15501302	15501302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15501302T>C	uc003nbj.2	+	8	2354	c.2110T>C	c.(2110-2112)TAC>CAC	p.Y704H	JARID2_uc011div.1_Missense_Mutation_p.Y532H|JARID2_uc011diw.1_Missense_Mutation_p.Y666H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	704	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15512570	15512570	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15512570C>T	uc003nbj.2	+	14	3328	c.3084C>T	c.(3082-3084)ACC>ACT	p.T1028T	JARID2_uc011div.1_Silent_p.T856T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1028	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
DTNBP1	84062	broad.mit.edu	37	6	15523311	15523311	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15523311G>T	uc003nbm.2	-	10	1122	c.951C>A	c.(949-951)CCC>CCA	p.P317P	DTNBP1_uc003nbl.2_Silent_p.P236P|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	317	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)											Hermansky-Pudlak_syndrome				---	---	---	---
GMPR	2766	broad.mit.edu	37	6	16279053	16279053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16279053T>C	uc003nbs.2	+	6	700	c.586T>C	c.(586-588)TAC>CAC	p.Y196H		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	196					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)																---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16307007	16307007	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16307007C>T	uc003nbt.2	-	9	2972	c.2001G>A	c.(1999-2001)CAG>CAA	p.Q667Q	ATXN1_uc010jpi.2_Silent_p.Q667Q|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	667	Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)																---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292149	17292149	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17292149T>C	uc003nbz.3	+	4	514	c.510T>C	c.(508-510)GCT>GCC	p.A170A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A112A|RBM24_uc003nca.2_Silent_p.A125A|RBM24_uc011diy.1_Missense_Mutation_p.L84P|RBM24_uc011diz.1_Missense_Mutation_p.L69P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	170	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17626268	17626268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17626268A>G	uc003ncd.1	-	19	3872	c.3672T>C	c.(3670-3672)GCT>GCC	p.A1224A	NUP153_uc011dje.1_Silent_p.A1255A|NUP153_uc010jpl.1_Silent_p.A1182A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1224					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17632925	17632925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17632925A>G	uc003ncd.1	-	17	2815	c.2615T>C	c.(2614-2616)TTG>TCG	p.L872S	NUP153_uc011dje.1_Missense_Mutation_p.L903S|NUP153_uc010jpl.1_Missense_Mutation_p.L830S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	872	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637492	17637492	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637492A>C	uc003ncd.1	-	16	2556	c.2356T>G	c.(2356-2358)TTT>GTT	p.F786V	NUP153_uc011dje.1_Missense_Mutation_p.F817V|NUP153_uc010jpl.1_Missense_Mutation_p.F744V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	786					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637537	17637537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637537T>A	uc003ncd.1	-	16	2511	c.2311A>T	c.(2311-2313)ACT>TCT	p.T771S	NUP153_uc011dje.1_Missense_Mutation_p.T802S|NUP153_uc010jpl.1_Missense_Mutation_p.T729S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	771					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17764724	17764724	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17764724T>C	uc003ncg.3	-	39	5140	c.5035A>G	c.(5035-5037)AGC>GGC	p.S1679G	KIF13A_uc003ncf.2_Missense_Mutation_p.S1631G|KIF13A_uc003nch.3_Missense_Mutation_p.S1644G|KIF13A_uc003nci.3_Missense_Mutation_p.S1631G|KIF13A_uc003nce.1_Missense_Mutation_p.S230G	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1679					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---
NHLRC1	378884	broad.mit.edu	37	6	18122144	18122144	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18122144T>C	uc003ncl.1	-	1	708	c.694A>G	c.(694-696)ACT>GCT	p.T232A		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	232	NHL 3.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)															---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18217973	18217973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18217973G>A	uc003nco.1	+	14	1708	c.1633G>A	c.(1633-1635)GAT>AAT	p.D545N	KDM1B_uc003ncn.1_Missense_Mutation_p.D516N|KDM1B_uc003ncp.1_Missense_Mutation_p.D101N|KDM1B_uc003ncq.1_Missense_Mutation_p.D101N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	748					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1																		---	---	---	---
RNF144B	255488	broad.mit.edu	37	6	18465249	18465249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18465249G>A	uc003ncs.2	+	8	1167	c.863G>A	c.(862-864)TGC>TAC	p.C288Y		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	288					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20483131	20483131	+	Silent	SNP	C	T	T	rs139915140		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20483131C>T	uc003nda.2	+	4	1191	c.864C>T	c.(862-864)ACC>ACT	p.T288T	E2F3_uc003ncz.2_Silent_p.T282T	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	288	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20490487	20490487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20490487G>A	uc003nda.2	+	7	1551	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	408	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178686	24178686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178686G>A	uc003ndx.2	-	9	1500	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	DCDC2_uc003ndy.2_Missense_Mutation_p.R400C|DCDC2_uc003ndw.2_Missense_Mutation_p.R151C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178771	24178771	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178771A>G	uc003ndx.2	-	9	1415	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	DCDC2_uc003ndy.2_Silent_p.G371G|DCDC2_uc003ndw.2_Silent_p.G122G	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	371					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24436855	24436855	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24436855A>G	uc003ned.1	-	22	2418	c.2307T>C	c.(2305-2307)GGT>GGC	p.G769G		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	769	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24463015	24463015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24463015T>C	uc003ned.1	-	11	941	c.830A>G	c.(829-831)AAC>AGC	p.N277S	GPLD1_uc010jpr.1_Missense_Mutation_p.N114S|GPLD1_uc010jps.1_Missense_Mutation_p.N277S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	277						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24850864	24850864	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24850864T>C	uc003neo.1	-	10	935	c.759A>G	c.(757-759)ACA>ACG	p.T253T	FAM65B_uc011djs.1_Silent_p.T282T|FAM65B_uc011dju.1_Silent_p.T287T|FAM65B_uc003nep.2_Silent_p.T253T|FAM65B_uc011djt.1_Silent_p.T253T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	253					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1																		---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25600765	25600765	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25600765G>A	uc011djw.1	+	33	3719	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	LRRC16A_uc010jpx.2_Missense_Mutation_p.E1115K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1115K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1115					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726369	25726369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726369T>C	uc003nfc.2	-	1	422	c.387A>G	c.(385-387)CAA>CAG	p.Q129Q	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	129					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25819947	25819947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25819947C>T	uc003nfh.3	-	4	520	c.404G>A	c.(403-405)TGG>TAG	p.W135*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.W133*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.W133*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	135	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983804	25983804	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25983804T>A	uc003nfm.2	+	8	1722	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	TRIM38_uc003nfn.2_Missense_Mutation_p.N411K|TRIM38_uc010jqd.2_Missense_Mutation_p.N65K	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	429	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---
HIST1H3C	8352	broad.mit.edu	37	6	26045888	26045888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26045888C>T	uc003nfv.2	+	1	250	c.250C>T	c.(250-252)CGT>TGT	p.R84C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	84					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056483	26056483	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26056483A>T	uc003nfw.2	-	1	217	c.174T>A	c.(172-174)TCT>TCA	p.S58S		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	58	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5																		---	---	---	---
HIST1H2BC	8347	broad.mit.edu	37	6	26123956	26123956	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26123956G>T	uc003ngk.3	-	1	199	c.177C>A	c.(175-177)GCC>GCA	p.A59A	HIST1H2BC_uc003ngl.2_Silent_p.A59A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	59					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H4D	8360	broad.mit.edu	37	6	26189068	26189068	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26189068G>A	uc003ngu.2	-	1	237	c.237C>T	c.(235-237)CGC>CGT	p.R79R		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	79					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200153	26200153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26200153A>T	uc003ngx.2	+	1	367	c.367A>T	c.(367-369)ACC>TCC	p.T123S	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217403	26217403	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26217403T>A	uc003nha.1	+	1	256	c.201T>A	c.(199-201)GCT>GCA	p.A67A	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	67					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)																---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26235016	26235016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26235016A>G	uc003nhd.2	-	1	201	c.146T>C	c.(145-147)GTG>GCG	p.V49A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)																---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393114	26393114	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26393114T>C	uc003nhq.2	+	8	1577	c.1491T>C	c.(1489-1491)CCT>CCC	p.P497P	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Silent_p.P381P|BTN2A2_uc011dkh.1_Silent_p.P287P|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Silent_p.P497P|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	497	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0																		---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26405878	26405878	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26405878T>C	uc003nhv.2	+	2	453	c.85_splice	c.e2+2	p.A29_splice	BTN3A1_uc011dkj.1_Splice_Site_p.A29_splice|BTN3A1_uc011dkk.1_Splice_Site_p.A29_splice|BTN3A1_uc010jqj.2_Splice_Site_p.A29_splice	NM_007048	NP_008979			butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783212	27783212	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27783212T>C	uc003njo.2	+	1					HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512			histone cluster 1, H2bm						nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834982	27834982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27834982T>C	uc003njx.2	-	1	378	c.326A>G	c.(325-327)AAA>AGA	p.K109R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835025	27835025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27835025T>C	uc003njx.2	-	1	335	c.283A>G	c.(283-285)ACC>GCC	p.T95A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	95	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879120	27879120	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27879120T>G	uc011dkw.1	-	1	978	c.978A>C	c.(976-978)ACA>ACC	p.T326T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	326	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056987	28056987	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28056987C>A	uc003nkg.2	+	5	2281	c.1197C>A	c.(1195-1197)CCC>CCA	p.P399P	ZNF165_uc003nkh.2_Silent_p.P399P|ZNF165_uc003nki.3_Silent_p.P399P|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	399					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28268774	28268774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28268774G>T	uc003nky.2	+	7	1513	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	PGBD1_uc003nkz.2_Missense_Mutation_p.K381N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	381					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4																		---	---	---	---
ZNF323	64288	broad.mit.edu	37	6	28294205	28294205	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28294205T>C	uc003nla.2	-	4	1359	c.959A>G	c.(958-960)GAA>GGA	p.E320G	ZNF323_uc003nld.2_Missense_Mutation_p.E320G|ZNF323_uc010jra.2_Missense_Mutation_p.E320G|ZNF323_uc003nlb.2_Missense_Mutation_p.E161G|ZNF323_uc010jrb.2_Missense_Mutation_p.E161G|ZNF323_uc003nlc.2_Missense_Mutation_p.E320G	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327716	28327716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28327716T>C	uc003nle.3	+	2	569	c.353T>C	c.(352-354)GTG>GCG	p.V118A	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.V118A|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	118	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---
SCAND3	114821	broad.mit.edu	37	6	28554087	28554087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28554087T>A	uc003nlo.2	-	1	1026	c.408A>T	c.(406-408)GAA>GAT	p.E136D	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	136					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29079854	29079854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29079854T>C	uc011dll.1	+	1	187	c.187T>C	c.(187-189)TAC>CAC	p.Y63H		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29394945	29394945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29394945T>C	uc003nmg.2	-	1	565	c.474A>G	c.(472-474)GGA>GGG	p.G158G		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29576503	29576503	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29576503G>T	uc003nmt.3	-	16	2203	c.1867C>A	c.(1867-1869)CAG>AAG	p.Q623K	GABBR1_uc003nmp.3_Missense_Mutation_p.Q506K|GABBR1_uc003nms.3_Missense_Mutation_p.Q506K|GABBR1_uc003nmu.3_Missense_Mutation_p.Q561K|GABBR1_uc011dlr.1_Missense_Mutation_p.Q446K|GABBR1_uc011dls.1_Silent_p.S572S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	623	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
ZFP57	346171	broad.mit.edu	37	6	29643256	29643256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29643256A>G	uc011dlw.1	-	3	410	c.259T>C	c.(259-261)TTT>CTT	p.F87L	ZFP57_uc003nnl.3_Missense_Mutation_p.F67L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	59	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043021	30043021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043021G>A	uc003npe.2	-	1	608	c.546C>T	c.(544-546)GGC>GGT	p.G182G	RNF39_uc003npd.2_Silent_p.G182G	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	182						cytoplasm	zinc ion binding				0																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043550	30043550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043550A>G	uc003npe.2	-	1	79	c.17T>C	c.(16-18)TTG>TCG	p.L6S	RNF39_uc003npd.2_Missense_Mutation_p.L6S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	6						cytoplasm	zinc ion binding				0																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30514577	30514577	+	Missense_Mutation	SNP	G	A	A	rs141407258	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30514577G>A	uc003nqh.2	-	11	2506	c.1478C>T	c.(1477-1479)GCG>GTG	p.A493V	GNL1_uc011dmi.1_Missense_Mutation_p.A290V|GNL1_uc011dmj.1_Missense_Mutation_p.A491V|GNL1_uc011dmk.1_Missense_Mutation_p.A148V	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	493					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30515059	30515059	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30515059A>G	uc003nqh.2	-						GNL1_uc011dmi.1_Intron|GNL1_uc011dmj.1_Intron|GNL1_uc011dmk.1_Intron	NM_005275	NP_005266			guanine nucleotide binding protein-like 1						response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30523965	30523965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30523965G>A	uc003nqh.2	-	1	1044	c.16C>T	c.(16-18)CCA>TCA	p.P6S	GNL1_uc011dmi.1_5'Flank|GNL1_uc011dmj.1_5'Flank|GNL1_uc011dmk.1_5'UTR|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	6					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569986	30569986	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30569986G>A	uc003nqn.1	-	19	2992	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	PPP1R10_uc010jsc.1_Missense_Mutation_p.R468C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	814	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30571905	30571905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30571905C>T	uc003nqn.1	-	14	1940	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	PPP1R10_uc010jsc.1_Missense_Mutation_p.C117Y	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	463	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572227	30572227	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30572227T>C	uc003nqn.1	-	13	1716	c.1164A>G	c.(1162-1164)CAA>CAG	p.Q388Q	PPP1R10_uc010jsc.1_Silent_p.Q42Q	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	388	Necessary for interaction with PPP1CA (By similarity).|Essential for PPP1CA inhibition (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
MRPS18B	28973	broad.mit.edu	37	6	30587523	30587523	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30587523T>C	uc003nqo.2	+	3	382	c.225T>C	c.(223-225)GCT>GCC	p.A75A	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Silent_p.A75A|MRPS18B_uc010jsd.1_Silent_p.A75A	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	75					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30630513	30630513	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30630513A>G	uc003nqz.2	-	9	1647	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.Y419H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	479	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30671508	30671508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30671508T>C	uc003nrg.3	-	10	5892	c.5452A>G	c.(5452-5454)ATG>GTG	p.M1818V	MDC1_uc003nrf.3_Missense_Mutation_p.M449V|MDC1_uc011dmp.1_Missense_Mutation_p.M1425V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1818	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675399	30675399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30675399G>A	uc003nrg.3	-	8	3397	c.2957C>T	c.(2956-2958)TCT>TTT	p.S986F	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	986				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30890980	30890980	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30890980A>T	uc003nsc.1	+	23	2917	c.2285A>T	c.(2284-2286)GAG>GTG	p.E762V	VARS2_uc011dmx.1_Missense_Mutation_p.E762V|VARS2_uc011dmy.1_Missense_Mutation_p.E622V|VARS2_uc011dmz.1_Missense_Mutation_p.E792V|VARS2_uc011dna.1_Missense_Mutation_p.E760V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.E200V|VARS2_uc010jsg.1_Missense_Mutation_p.E134V|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	762					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31116476	31116476	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31116476G>A	uc003nsr.3	-	9	1248	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	CCHCR1_uc011dne.1_Silent_p.S375S|CCHCR1_uc003nsq.3_Silent_p.S428S|CCHCR1_uc003nsp.3_Silent_p.S464S|CCHCR1_uc010jsk.1_Silent_p.S375S	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	375	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1																		---	---	---	---
TCF19	6941	broad.mit.edu	37	6	31130321	31130321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31130321G>A	uc003nss.2	+	4	1389	c.865G>A	c.(865-867)GGG>AGG	p.G289R	TCF19_uc003nst.2_Missense_Mutation_p.G289R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	289	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
LTA	4049	broad.mit.edu	37	6	31540749	31540749	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31540749C>A	uc011dnu.1	+	3	357	c.144C>A	c.(142-144)GCC>GCA	p.A48A	LTA_uc003nue.1_Silent_p.A48A|LTA_uc003nuf.2_RNA|LTA_uc003nuh.2_5'UTR|LTA_uc003nug.2_5'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	48					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541079	31541079	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31541079C>T	uc011dnu.1	+	4	440	c.227C>T	c.(226-228)TCA>TTA	p.S76L	LTA_uc003nue.1_Missense_Mutation_p.S76L|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23L|LTA_uc003nug.2_Missense_Mutation_p.S23L|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	76					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31593291	31593291	+	Missense_Mutation	SNP	C	A	A	rs144276631		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31593291C>A	uc003nvb.3	+	7	911	c.662C>A	c.(661-663)CCG>CAG	p.P221Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.P221Q|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	221	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31600367	31600367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31600367C>T	uc003nvb.3	+	16	4166	c.3917C>T	c.(3916-3918)TCT>TTT	p.S1306F	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S1306F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1306	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31602965	31602965	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31602965G>T	uc003nvb.3	+	22	5466	c.5217G>T	c.(5215-5217)CAG>CAT	p.Q1739H	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.Q1739H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1739	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT3	7917	broad.mit.edu	37	6	31611972	31611972	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31611972C>A	uc003nvg.3	-	12	1780	c.1466_splice	c.e12-1	p.G489_splice	BAT3_uc003nvf.3_Splice_Site_p.G483_splice|BAT3_uc003nvh.3_Splice_Site_p.G483_splice|BAT3_uc003nvi.3_Splice_Site_p.G483_splice|BAT3_uc011dnw.1_Splice_Site_p.G483_splice|BAT3_uc011dnx.1_Splice_Site_p.G483_splice	NM_004639	NP_004630			HLA-B associated transcript-3 isoform a						apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0																		---	---	---	---
C6orf47	57827	broad.mit.edu	37	6	31627032	31627032	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31627032C>G	uc003nvm.1	-	1	1518	c.693G>C	c.(691-693)GGG>GGC	p.G231G		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	231										ovary(1)	1																		---	---	---	---
VARS	7407	broad.mit.edu	37	6	31747231	31747231	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31747231T>A	uc003nxe.2	-	28	3794	c.3371A>T	c.(3370-3372)GAC>GTC	p.D1124V	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.D61V	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---
C6orf48	50854	broad.mit.edu	37	6	31805219	31805219	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31805219A>G	uc003rjx.1	+						C6orf48_uc003rjy.1_Intron|C6orf48_uc003rjz.1_Intron	NM_001040437	NP_001035527			G8 protein												0																		---	---	---	---
CFB	629	broad.mit.edu	37	6	31914250	31914250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31914250C>T	uc003nyj.3	+	2	443	c.165C>T	c.(163-165)GGC>GGT	p.G55G	CFB_uc011dor.1_Silent_p.G557G|CFB_uc011dos.1_Silent_p.G55G|CFB_uc003nyi.2_Silent_p.G55G	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963556	31963556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963556G>A	uc011doy.1	+	25	3266	c.3215G>A	c.(3214-3216)CGG>CAG	p.R1072Q	C4A_uc011doz.1_Missense_Mutation_p.R1072Q	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963570	31963570	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963570T>C	uc011doy.1	+	25	3280	c.3229T>C	c.(3229-3231)TGG>CGG	p.W1077R	C4A_uc011doz.1_Missense_Mutation_p.W1077R	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1077					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017118	32017118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32017118T>C	uc003nzl.2	-	28	9882	c.9680A>G	c.(9679-9681)AAA>AGA	p.K3227R	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3274	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32021419	32021419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32021419C>T	uc003nzl.2	-	25	8733	c.8531G>A	c.(8530-8532)CGC>CAC	p.R2844H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2893	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32046840	32046840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32046840C>T	uc003nzl.2	-	11	4547	c.4345G>A	c.(4345-4347)GTG>ATG	p.V1449M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1536	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32064256	32064256	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32064256G>A	uc003nzl.2	-	3	1576	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	458	EGF-like 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32065914	32065914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32065914G>A	uc003nzl.2	-	2	264	c.62C>T	c.(61-63)GCC>GTC	p.A21V	TNXB_uc010jts.1_Missense_Mutation_p.A20V|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	21					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155497	32155497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32155497T>C	uc003oav.1	-	5	1068	c.797A>G	c.(796-798)CAC>CGC	p.H266R	PBX2_uc003oaw.2_Missense_Mutation_p.H266R	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	266	Homeobox; TALE-type.						transcription factor binding			ovary(1)	1																		---	---	---	---
HLA-DRA	3122	broad.mit.edu	37	6	32410334	32410334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32410334G>A	uc003obh.2	+	2	273	c.192G>A	c.(190-192)AAG>AAA	p.K64K	HLA-DRA_uc003obi.2_Silent_p.K64K	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	64	Extracellular (Potential).|Alpha-1.			K -> L (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2														T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782325	32782325	+	Missense_Mutation	SNP	T	A	A	rs139684832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782325T>A	uc011dqf.1	-	14	2358	c.2236A>T	c.(2236-2238)AAT>TAT	p.N746Y	HLA-DOB_uc003oca.2_Missense_Mutation_p.N139Y|HLA-DOB_uc011dqg.1_Missense_Mutation_p.N139Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782846	32782846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32906545	32906545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32906545T>C	uc003ocl.1	-	2	486	c.253A>G	c.(253-255)ACC>GCC	p.T85A	HLA-DMB_uc003ocj.1_Missense_Mutation_p.T85A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.T85A	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	85	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32944082	32944082	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32944082A>G	uc003ocn.3	+	6	2367	c.666A>G	c.(664-666)TCA>TCG	p.S222S	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.S222S|BRD2_uc003ocp.3_Silent_p.S102S|BRD2_uc010juh.2_Silent_p.S222S	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	222					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32947622	32947622	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32947622C>G	uc003ocn.3	+	11	3560	c.1859C>G	c.(1858-1860)ACA>AGA	p.T620R	BRD2_uc003ocq.3_Missense_Mutation_p.T620R|BRD2_uc003ocp.3_Missense_Mutation_p.T500R|BRD2_uc010juh.2_Missense_Mutation_p.T655R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	620					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975164	32975164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32975164G>A	uc003ocr.2	-	3	613	c.537C>T	c.(535-537)TTC>TTT	p.F179F	HLA-DOA_uc010juj.2_Silent_p.F149F|HLA-DOA_uc010jui.2_Silent_p.F179F	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	179	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133401	33133401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133401G>A	uc003ocx.1	-	63	4903	c.4675C>T	c.(4675-4677)CGG>TGG	p.R1559W	COL11A2_uc010jul.1_Missense_Mutation_p.R129W|COL11A2_uc003ocy.1_Missense_Mutation_p.R1473W|COL11A2_uc003ocz.1_Missense_Mutation_p.R1452W	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1559	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133486	33133486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133486G>A	uc003ocx.1	-	63	4818	c.4590C>T	c.(4588-4590)ACC>ACT	p.T1530T	COL11A2_uc010jul.1_Silent_p.T100T|COL11A2_uc003ocy.1_Silent_p.T1444T|COL11A2_uc003ocz.1_Silent_p.T1423T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1530					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
RING1	6015	broad.mit.edu	37	6	33177443	33177443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33177443G>A	uc003odk.2	+	3	313	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	RING1_uc011dqw.1_3'UTR|RING1_uc011dqx.1_Missense_Mutation_p.R40Q|RING1_uc003odl.2_Missense_Mutation_p.R11Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	40	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245430	33245430	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245430C>T	uc003odr.2	+	1	514	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	78	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245707G>A	uc003odr.2	+	1	791	c.511G>A	c.(511-513)GTC>ATC	p.V171I		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33247573	33247573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33247573C>T	uc003ods.2	-	13	1632	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K	WDR46_uc011dra.1_Missense_Mutation_p.E476K	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	530											0																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33365928	33365928	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33365928C>T	uc003oef.3	+	2	585	c.135C>T	c.(133-135)GGC>GGT	p.G45G	KIFC1_uc011drf.1_Silent_p.G45G|uc011drg.1_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	45					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33641390	33641390	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33641390A>T	uc011drk.1	+	23	3170	c.2951A>T	c.(2950-2952)GAT>GTT	p.D984V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	984	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33648175	33648175	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33648175T>C	uc011drk.1	+	32	4513	c.4294T>C	c.(4294-4296)TAC>CAC	p.Y1432H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1432	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
C6orf125	84300	broad.mit.edu	37	6	33669177	33669177	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33669177A>G	uc003ofa.1	-	2	200	c.159T>C	c.(157-159)TGT>TGC	p.C53C	C6orf125_uc003oez.1_5'Flank|C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	53											0																		---	---	---	---
LEMD2	221496	broad.mit.edu	37	6	33746099	33746099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33746099G>A	uc011drm.1	-	6	1089	c.1076C>T	c.(1075-1077)GCC>GTC	p.A359V	LEMD2_uc010jvg.2_Missense_Mutation_p.A68V|LEMD2_uc011drl.1_Missense_Mutation_p.A57V|LEMD2_uc003ofe.2_Missense_Mutation_p.A57V	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	359						integral to nuclear inner membrane				central_nervous_system(1)	1																		---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008103	34008103	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34008103G>A	uc003oir.3	-						GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Intron|GRM4_uc010jvi.2_Intron|GRM4_uc003oio.2_Intron|GRM4_uc003oip.2_Intron|GRM4_uc011dsl.1_Intron|GRM4_uc003oiq.2_Intron|GRM4_uc011dsm.1_Intron	NM_000841	NP_000832			glutamate receptor, metabotropic 4 precursor						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34495114	34495114	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34495114G>A	uc003ojo.2	+	3	275	c.69G>A	c.(67-69)GGG>GGA	p.G23G	PACSIN1_uc003ojp.2_Silent_p.G23G	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	23	FCH.				endocytosis		protein kinase activity				0																OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C6orf106	64771	broad.mit.edu	37	6	34574322	34574322	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34574322G>T	uc003ojr.2	-						C6orf106_uc003ojs.2_Intron	NM_024294	NP_077270			chromosome 6 open reading frame 106 isoform a											skin(2)|ovary(1)	3																		---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826075	34826075	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34826075T>C	uc003oju.3	+	14	2176	c.1942T>C	c.(1942-1944)TAT>CAT	p.Y648H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	648										ovary(3)	3																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34935065	34935065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34935065C>T	uc003ojx.3	+	2	389	c.247C>T	c.(247-249)CCC>TCC	p.P83S	ANKS1A_uc011dss.1_Missense_Mutation_p.P83S|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	83	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985579	34985579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34985579A>G	uc003ojx.3	+	11	1895	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.T125A|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	585						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
STK38	11329	broad.mit.edu	37	6	36465624	36465624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36465624C>T	uc003omg.2	-	11	1693	c.1105G>A	c.(1105-1107)GGA>AGA	p.G369R	STK38_uc003omh.2_Missense_Mutation_p.G369R|STK38_uc003omi.2_Missense_Mutation_p.G369R	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	369	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38256037	38256037	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38256037A>T	uc003ooa.3	-						BTBD9_uc003ony.3_Intron|BTBD9_uc010jwv.2_Intron|BTBD9_uc010jww.2_Intron|BTBD9_uc010jwx.2_Intron	NM_052893	NP_443125			BTB (POZ) domain containing 9 isoform a						cell adhesion						0																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38560367	38560367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38560367A>G	uc003ooa.3	-	5	1375	c.799T>C	c.(799-801)TAT>CAT	p.Y267H	BTBD9_uc003ony.3_Missense_Mutation_p.Y199H|BTBD9_uc010jwv.2_Missense_Mutation_p.Y199H|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.Y267H	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	267					cell adhesion						0																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38690609	38690609	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38690609C>T	uc003ooe.1	+	1					DNAH8_uc003ood.1_Silent_p.G8G	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38738194	38738194	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38738194C>T	uc003ooe.1	+	10	1572	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813476	38813476	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38813476G>T	uc003ooe.1	+	34	4921	c.4321G>T	c.(4321-4323)GGA>TGA	p.G1441*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38858521	38858521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38858521T>C	uc003ooe.1	+	56	8516	c.7916T>C	c.(7915-7917)CTG>CCG	p.L2639P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563911	39563911	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563911C>A	uc003oot.2	-	7	860	c.765G>T	c.(763-765)GAG>GAT	p.E255D	KIF6_uc010jxa.1_Missense_Mutation_p.E46D|KIF6_uc011dua.1_Missense_Mutation_p.E255D|KIF6_uc010jxb.1_Missense_Mutation_p.E255D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	255	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563941	39563941	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563941T>C	uc003oot.2	-	7	830	c.735A>G	c.(733-735)AAA>AAG	p.K245K	KIF6_uc010jxa.1_Silent_p.K36K|KIF6_uc011dua.1_Silent_p.K245K|KIF6_uc010jxb.1_Silent_p.K245K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	245	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39877611	39877611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39877611G>A	uc003opb.2	-	8	1208	c.1070C>T	c.(1069-1071)GCT>GTT	p.A357V	MOCS1_uc003opa.2_Missense_Mutation_p.A357V|MOCS1_uc003opc.2_Missense_Mutation_p.A357V|MOCS1_uc003opd.2_Missense_Mutation_p.A357V|MOCS1_uc003ope.2_Missense_Mutation_p.A270V	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39880039	39880039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39880039C>T	uc003opb.2	-	7	1088	c.950G>A	c.(949-951)CGC>CAC	p.R317H	MOCS1_uc003opa.2_Missense_Mutation_p.R317H|MOCS1_uc003opc.2_Missense_Mutation_p.R317H|MOCS1_uc003opd.2_Missense_Mutation_p.R317H|MOCS1_uc003ope.2_Missense_Mutation_p.R230H	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
UNC5CL	222643	broad.mit.edu	37	6	40996189	40996189	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40996189T>A	uc003opi.2	-	9	1569	c.1480A>T	c.(1480-1482)ACA>TCA	p.T494S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	494	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)															OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41613964	41613964	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41613964C>A	uc003oqp.3	+	4	506	c.177C>A	c.(175-177)ACC>ACA	p.T59T	MDFI_uc003oqq.3_Silent_p.T59T|MDFI_uc010jxn.2_Silent_p.T59T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	59					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41617445	41617445	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41617445G>T	uc003oqp.3	+	5	677	c.348G>T	c.(346-348)GCG>GCT	p.A116A	MDFI_uc003oqq.3_Silent_p.A116A|MDFI_uc010jxn.2_Silent_p.A116A	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	116					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773764	41773764	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773764C>T	uc003ori.2	-	4	1180	c.958G>A	c.(958-960)GAC>AAC	p.D320N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42225919	42225919	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42225919C>T	uc003osd.2	-	10	2853	c.2290G>A	c.(2290-2292)GTG>ATG	p.V764M	TRERF1_uc011duq.1_Missense_Mutation_p.V681M|TRERF1_uc003osb.2_Missense_Mutation_p.V520M|TRERF1_uc003osc.2_Missense_Mutation_p.V520M|TRERF1_uc003ose.2_Missense_Mutation_p.V784M	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	764	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42562040	42562040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42562040G>T	uc011dur.1	+	4	529	c.529G>T	c.(529-531)GAG>TAG	p.E177*	UBR2_uc003osf.2_Nonsense_Mutation_p.E177*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	177					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42603281	42603281	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42603281A>G	uc011dur.1	+	14	1671	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	UBR2_uc011dus.1_Silent_p.S202S|UBR2_uc010jxv.1_Silent_p.S61S|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	557					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42641876	42641876	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42641876A>C	uc011dur.1	+	38	4196	c.4196A>C	c.(4195-4197)AAT>ACT	p.N1399T	UBR2_uc011dus.1_Missense_Mutation_p.N1044T|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1399					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42647508	42647508	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42647508A>G	uc011dur.1	+	42	4656	c.4656A>G	c.(4654-4656)CTA>CTG	p.L1552L	UBR2_uc011dus.1_Silent_p.L1197L|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.L140L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1552					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
PPP2R5D	5528	broad.mit.edu	37	6	42975254	42975254	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42975254C>T	uc003oth.2	+						MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_Intron|PPP2R5D_uc003oti.2_Intron|PPP2R5D_uc003otj.2_Intron	NM_006245	NP_006236			delta isoform of regulatory subunit B56, protein						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43020464	43020464	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43020464A>G	uc003otq.2	-	2	366	c.63T>C	c.(61-63)TAT>TAC	p.Y21Y	CUL7_uc011dvb.1_Silent_p.Y73Y|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	21					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43022010	43022010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43022010T>C	uc003ots.1	-	7					CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034			mitochondrial ribosomal protein L2 precursor						translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)														---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43039057	43039057	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43039057A>G	uc003otv.1	+	9	1277	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Silent_p.T323T|KLC4_uc003otw.1_Silent_p.T418T|KLC4_uc003otx.1_Silent_p.T400T|KLC4_uc003oty.1_Silent_p.T400T|KLC4_uc003otz.1_Silent_p.T400T	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	400	TPR 6.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)															---	---	---	---
SRF	6722	broad.mit.edu	37	6	43146933	43146933	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43146933C>T	uc003oui.2	+	7					SRF_uc011dvf.1_3'UTR|CUL9_uc003ouj.1_5'Flank|CUL9_uc003ouk.2_5'Flank|CUL9_uc003oul.2_5'Flank|CUL9_uc010jyk.2_5'Flank	NM_003131	NP_003122			serum response factor (c-fos serum response						angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)															---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155142	43155142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155142C>T	uc003ouk.2	+	6	1621	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.P516S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	516					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155582	43155582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155582G>A	uc003ouk.2	+	7	1788	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K	CUL9_uc003ouj.1_Silent_p.K461K|CUL9_uc003oul.2_Silent_p.K571K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.K29K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	571					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43168555	43168555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43168555C>T	uc003ouk.2	+	16	3705	c.3630C>T	c.(3628-3630)CAC>CAT	p.H1210H	CUL9_uc003oul.2_Silent_p.H1210H|CUL9_uc010jyk.2_Silent_p.H362H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1210	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172842	43172842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43172842A>G	uc003ouk.2	+	23	4696	c.4621A>G	c.(4621-4623)ACT>GCT	p.T1541A	CUL9_uc003oul.2_Missense_Mutation_p.T1541A|CUL9_uc010jyk.2_Missense_Mutation_p.T693A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1541					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43226815	43226815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43226815G>A	uc003ouq.1	+	11	1335	c.1056G>A	c.(1054-1056)CGG>CGA	p.R352R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	352						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43237375	43237375	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43237375T>G	uc003ouq.1	+						TTBK1_uc011dvg.1_Intron	NM_032538	NP_115927			tau tubulin kinase 1							cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43406490	43406490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43406490A>G	uc003ouy.1	+	8	2299	c.2084A>G	c.(2083-2085)TAC>TGC	p.Y695C	ABCC10_uc003ouz.1_Missense_Mutation_p.Y667C|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	695	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
DLK2	65989	broad.mit.edu	37	6	43418614	43418614	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43418614A>G	uc003ova.2	-	6	1024	c.815T>C	c.(814-816)GTA>GCA	p.V272A	DLK2_uc003ovb.2_Missense_Mutation_p.V272A	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	272	Extracellular (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488739	43488739	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43488739A>T	uc003ovn.2	+	8	932	c.875A>T	c.(874-876)AAG>ATG	p.K292M	POLR1C_uc003ovo.1_Missense_Mutation_p.K292M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43541338	43541338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43541338A>T	uc003ovp.2	-	2	317	c.106T>A	c.(106-108)TTT>ATT	p.F36I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	36	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---
POLH	5429	broad.mit.edu	37	6	43581998	43581998	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43581998G>T	uc003ovq.3	+	11	2150	c.1846G>T	c.(1846-1848)GTG>TTG	p.V616L	POLH_uc010jyu.2_Missense_Mutation_p.V492L|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.V517L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	616					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)										DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				---	---	---	---
GTPBP2	54676	broad.mit.edu	37	6	43591810	43591810	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43591810A>G	uc003ovs.2	-						GTPBP2_uc010jyv.2_Intron|GTPBP2_uc003ovt.1_Intron	NM_019096	NP_061969			GTP binding protein 2								GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)															---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44121530	44121530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44121530C>T	uc003owr.2	+	21	2124	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	TMEM63B_uc003ows.2_Missense_Mutation_p.A590V|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	687	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)															---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216456	44216456	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44216456T>C	uc003oxa.1	+	2	174	c.90T>C	c.(88-90)AAT>AAC	p.N30N	HSP90AB1_uc011dvr.1_Silent_p.N30N|HSP90AB1_uc003oxb.1_Silent_p.N30N|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	30					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
NFKBIE	4794	broad.mit.edu	37	6	44229356	44229356	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44229356T>C	uc003oxe.1	-							NM_004556	NP_004547			nuclear factor of kappa light polypeptide gene						cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44271037	44271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44271037G>A	uc010jza.1	-	15	2134	c.2131C>T	c.(2131-2133)CGC>TGC	p.R711C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	711					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44279148	44279148	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44279148C>A	uc010jza.1	-	3	563	c.560G>T	c.(559-561)AGG>ATG	p.R187M	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	187					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44320601	44320601	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44320601C>A	uc003oxk.2	+	2	625	c.278C>A	c.(277-279)GCT>GAT	p.A93D	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	93										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371587	44371587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371587C>T	uc003oxl.2	+	6	840	c.581C>T	c.(580-582)GCT>GTT	p.A194V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	194	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45917038	45917038	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:45917038A>T	uc003oxv.3	-	3	837	c.731T>A	c.(730-732)GTC>GAC	p.V244D	CLIC5_uc003oxu.3_Missense_Mutation_p.V85D|CLIC5_uc003oxx.2_Missense_Mutation_p.V85D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	244					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2																		---	---	---	---
ENPP5	59084	broad.mit.edu	37	6	46129477	46129477	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46129477A>T	uc003oxz.1	-	4	1228	c.1020T>A	c.(1018-1020)GGT>GGA	p.G340G	ENPP5_uc003oya.1_Silent_p.G340G|ENPP5_uc011dvz.1_Silent_p.G246G|ENPP5_uc010jzc.1_Missense_Mutation_p.L342I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	340						extracellular region|integral to membrane	hydrolase activity				0																		---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658498	46658498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658498A>G	uc003oyj.2	+	1	2633	c.2633A>G	c.(2632-2634)CAG>CGG	p.Q878R	TDRD6_uc010jze.2_Missense_Mutation_p.Q872R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	878					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658994	46658994	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658994G>T	uc003oyj.2	+	1	3129	c.3129G>T	c.(3127-3129)AAG>AAT	p.K1043N	TDRD6_uc010jze.2_Missense_Mutation_p.K1037N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
PLA2G7	7941	broad.mit.edu	37	6	46690512	46690512	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46690512C>T	uc010jzf.2	-						PLA2G7_uc010jzg.1_Intron|PLA2G7_uc011dwd.1_Intron|PLA2G7_uc011dwe.1_Intron	NM_005084	NP_005075			phospholipase A2, group VII						inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46821794	46821794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46821794A>G	uc003oyo.3	-	21	4265	c.3976T>C	c.(3976-3978)TCC>CCC	p.S1326P	GPR116_uc011dwj.1_Missense_Mutation_p.S881P|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S1184P|GPR116_uc003oyq.3_Missense_Mutation_p.S1326P	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1326	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46827202	46827202	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46827202A>C	uc003oyo.3	-	17	2727	c.2438T>G	c.(2437-2439)GTT>GGT	p.V813G	GPR116_uc011dwj.1_Missense_Mutation_p.V368G|GPR116_uc011dwk.1_Missense_Mutation_p.V242G|GPR116_uc003oyp.3_Missense_Mutation_p.V671G|GPR116_uc003oyq.3_Missense_Mutation_p.V813G|GPR116_uc010jzi.1_Missense_Mutation_p.V485G	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	813	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46851907	46851907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46851907C>T	uc003oyo.3	-	5	719	c.430G>A	c.(430-432)GTC>ATC	p.V144I	GPR116_uc003oyp.3_Missense_Mutation_p.V144I|GPR116_uc003oyq.3_Missense_Mutation_p.V144I|GPR116_uc003oyr.2_Missense_Mutation_p.V144I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	144	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977420	46977420	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46977420A>G	uc003oyt.2	-	11	1950	c.1751T>C	c.(1750-1752)GTT>GCT	p.V584A	GPR110_uc011dwl.1_Missense_Mutation_p.V272A	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47254265	47254265	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47254265G>A	uc003oyv.2	-	2	596	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	55	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)															---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47675983	47675983	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47675983T>C	uc003oza.1	+	3	375	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GPR115_uc003oyz.1_Silent_p.P96P|GPR115_uc003ozb.1_Silent_p.P37P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	39	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8																		---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49676859	49676859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49676859T>C	uc003ozq.2	-	4	307	c.51A>G	c.(49-51)TTA>TTG	p.L17L	CRISP2_uc003ozl.2_Silent_p.L17L|CRISP2_uc003ozn.2_Silent_p.L17L|CRISP2_uc003ozr.2_Silent_p.L17L|CRISP2_uc003ozo.2_Silent_p.L17L|CRISP2_uc003ozm.2_Silent_p.L17L|CRISP2_uc003ozp.2_Silent_p.L17L	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	17						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50681799	50681799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50681799G>A	uc003paf.2	+	1	543	c.31G>A	c.(31-33)GAT>AAT	p.D11N	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	11							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50796364	50796364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50796364T>A	uc003pag.2	+	3	739	c.573T>A	c.(571-573)AAT>AAA	p.N191K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	191					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51619589	51619589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51619589C>T	uc003pah.1	-	56	9066	c.8790G>A	c.(8788-8790)CGG>CGA	p.R2930R	PKHD1_uc010jzn.1_Silent_p.R913R|PKHD1_uc003pai.2_Silent_p.R2930R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2930	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51897950	51897950	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1081C(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53134010	53134010	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53134010C>A	uc003pbq.1	-	8	1263	c.815G>T	c.(814-816)GGG>GTG	p.G272V	ELOVL5_uc003pbr.1_Missense_Mutation_p.G272V|ELOVL5_uc011dwx.1_Missense_Mutation_p.G299V|ELOVL5_uc003pbs.1_Missense_Mutation_p.W230C	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	272					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)																	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519830	53519830	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53519830T>G	uc003pcb.3	-	2	382	c.241A>C	c.(241-243)ACC>CCC	p.T81P		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)																	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53784454	53784454	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53784454A>C	uc003pcd.1	+	12	1542	c.1265A>C	c.(1264-1266)GAA>GCA	p.E422A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	422						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)														---	---	---	---
C6orf142	90523	broad.mit.edu	37	6	53989479	53989479	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53989479G>A	uc003pcg.3	+	3	541	c.428G>A	c.(427-429)AGC>AAC	p.S143N	C6orf142_uc003pcf.2_Missense_Mutation_p.S143N|C6orf142_uc003pch.3_Missense_Mutation_p.S81N|C6orf142_uc011dwz.1_Missense_Mutation_p.S102N|C6orf142_uc011dxa.1_Missense_Mutation_p.S154N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	143						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)																	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806068	54806068	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54806068T>G	uc003pck.2	+	5	2415	c.2299T>G	c.(2299-2301)TTT>GTT	p.F767V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	767										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044520	56044520	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56044520A>G	uc003pcs.2	-	3	728	c.496T>C	c.(496-498)TTT>CTT	p.F166L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F166L|COL21A1_uc003pcu.1_Missense_Mutation_p.F166L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	166	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---
DST	667	broad.mit.edu	37	6	56354379	56354379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56354379T>C	uc003pdf.2	-	80	14457	c.14429A>G	c.(14428-14430)GAG>GGG	p.E4810G	DST_uc003pcz.3_Missense_Mutation_p.E4632G|DST_uc011dxj.1_Missense_Mutation_p.E4661G|DST_uc011dxk.1_Missense_Mutation_p.E4672G|DST_uc003pcy.3_Missense_Mutation_p.E4306G|DST_uc003pda.3_Missense_Mutation_p.E2G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6718	Spectrin 18.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56362299	56362299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56362299C>A	uc003pdf.2	-	76	13772	c.13744G>T	c.(13744-13746)GGG>TGG	p.G4582W	DST_uc003pcz.3_Missense_Mutation_p.G4404W|DST_uc011dxj.1_Missense_Mutation_p.G4433W|DST_uc011dxk.1_Missense_Mutation_p.G4444W|DST_uc003pcy.3_Missense_Mutation_p.G4078W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6490	Spectrin 16.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56417167	56417167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56417167T>C	uc003pdf.2	-	55	10094	c.10066A>G	c.(10066-10068)AAG>GAG	p.K3356E	DST_uc003pcz.3_Missense_Mutation_p.K3178E|DST_uc011dxj.1_Missense_Mutation_p.K3207E|DST_uc011dxk.1_Missense_Mutation_p.K3218E|DST_uc003pcy.3_Missense_Mutation_p.K2852E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56437713	56437713	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56437713A>G	uc003pdf.2	-	46	7057	c.7029T>C	c.(7027-7029)AGT>AGC	p.S2343S	DST_uc003pcz.3_Silent_p.S2165S|DST_uc011dxj.1_Silent_p.S2194S|DST_uc011dxk.1_Silent_p.S2205S|DST_uc003pcy.3_Silent_p.S1839S|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56483403	56483403	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56483403T>A	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.Y1810F	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56819348	56819348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56819348T>C	uc003pdf.2	-	1	66	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
BEND6	221336	broad.mit.edu	37	6	56880075	56880075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56880075G>A	uc010kab.2	+	4	1029	c.443G>A	c.(442-444)TGC>TAC	p.C148Y	BEND6_uc003pdi.3_Missense_Mutation_p.C50Y	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	148											0																		---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918985	56918985	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56918985C>A	uc003pdj.2	+	4	1858	c.1688C>A	c.(1687-1689)GCT>GAT	p.A563D	KIAA1586_uc011dxm.1_Missense_Mutation_p.A536D	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	563							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57015643	57015643	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:57015643T>C	uc003pdm.1	+	11	2959	c.2735T>C	c.(2734-2736)TTT>TCT	p.F912S	ZNF451_uc003pdl.2_Missense_Mutation_p.F912S|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.F912S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990621	63990621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63990621C>T	uc003peh.2	-	4	869	c.835G>A	c.(835-837)GCT>ACT	p.A279T	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	279					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995646	63995646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63995646T>C	uc003peh.2	-	3	210	c.176A>G	c.(175-177)GAC>GGC	p.D59G	LGSN_uc003pei.2_Missense_Mutation_p.D59G|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	59					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64286857	64286857	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64286857T>A	uc003pek.2	+	4	1058	c.72T>A	c.(70-72)AAT>AAA	p.N24K	PTP4A1_uc003pel.2_Missense_Mutation_p.N24K	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	24					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422823	64422823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64422823T>A	uc003pep.1	+	15	5365	c.5339T>A	c.(5338-5340)ATC>AAC	p.I1780N	PHF3_uc003pen.2_Missense_Mutation_p.I1692N|PHF3_uc011dxs.1_Missense_Mutation_p.I1049N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1780					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---
EYS	346007	broad.mit.edu	37	6	66094267	66094267	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66094267T>C	uc011dxu.1	-						EYS_uc003peq.2_Intron|EYS_uc003per.1_Intron	NM_001142800	NP_001136272			eyes shut homolog isoform 1						response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115115	66115115	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66115115A>G	uc011dxu.1	-	6	1546	c.1008T>C	c.(1006-1008)TTT>TTC	p.F336F	EYS_uc003peq.2_Silent_p.F336F|EYS_uc003per.1_Silent_p.F336F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	336	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
BAI3	577	broad.mit.edu	37	6	69758078	69758078	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69758078G>C	uc003pev.3	+	14	2557	c.2109G>C	c.(2107-2109)GTG>GTC	p.V703V	BAI3_uc010kak.2_Silent_p.V703V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	703	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
BAI3	577	broad.mit.edu	37	6	70064145	70064145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70064145C>T	uc003pev.3	+	27	3928	c.3480C>T	c.(3478-3480)TGC>TGT	p.C1160C	BAI3_uc010kak.2_Silent_p.C1160C|BAI3_uc011dxx.1_Silent_p.C366C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1160	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70409017	70409017	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70409017A>G	uc003pfa.2	-	13	1371	c.1256T>C	c.(1255-1257)CTT>CCT	p.L419P	LMBRD1_uc003pey.2_Missense_Mutation_p.L215P|LMBRD1_uc003pez.2_Missense_Mutation_p.L346P|LMBRD1_uc010kal.2_Missense_Mutation_p.L346P|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	419	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70428954	70428954	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70428954A>G	uc003pfa.2	-	8	771	c.656T>C	c.(655-657)TTA>TCA	p.L219S	LMBRD1_uc003pey.2_Missense_Mutation_p.L15S|LMBRD1_uc003pez.2_Missense_Mutation_p.L146S|LMBRD1_uc010kal.2_Missense_Mutation_p.L146S|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	219	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70462228	70462228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70462228A>G	uc003pfa.2	-	4	443	c.328T>C	c.(328-330)TTC>CTC	p.F110L	LMBRD1_uc003pez.2_Missense_Mutation_p.F37L|LMBRD1_uc010kal.2_Missense_Mutation_p.F37L|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	110	Helical; Name=3; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70744135	70744135	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70744135A>C	uc003pfc.1	+	13	1198	c.1081_splice	c.e13-2	p.G361_splice	COL19A1_uc010kam.1_Splice_Site_p.G257_splice	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
B3GAT2	135152	broad.mit.edu	37	6	71603827	71603827	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71603827T>C	uc003pfv.2	-						B3GAT2_uc011dxz.1_Intron|B3GAT2_uc003pfw.2_Intron	NM_080742	NP_542780			beta-1,3-glucuronyltransferase 2						carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
OGFRL1	79627	broad.mit.edu	37	6	72006048	72006048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72006048A>G	uc003pfx.1	+	4	592	c.429A>G	c.(427-429)AAA>AAG	p.K143K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	143						membrane	receptor activity				0																		---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72960976	72960976	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72960976A>G	uc003pga.2	+	15	2680	c.2603A>G	c.(2602-2604)CAG>CGG	p.Q868R	RIMS1_uc011dyb.1_Missense_Mutation_p.Q494R|RIMS1_uc003pgc.2_Missense_Mutation_p.Q494R|RIMS1_uc010kaq.2_Missense_Mutation_p.Q342R|RIMS1_uc011dyc.1_Missense_Mutation_p.Q342R|RIMS1_uc010kar.2_Missense_Mutation_p.Q261R|RIMS1_uc011dyd.1_Missense_Mutation_p.Q327R|RIMS1_uc003pgf.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgg.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgi.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgh.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgd.2_Missense_Mutation_p.Q85R|RIMS1_uc003pge.2_Missense_Mutation_p.Q85R|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Q494R|RIMS1_uc010kas.1_Missense_Mutation_p.Q327R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	868					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904299	73904299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904299C>T	uc003pgk.2	+	14	2308	c.1961C>T	c.(1960-1962)ACA>ATA	p.T654I	KCNQ5_uc011dyh.1_Missense_Mutation_p.T673I|KCNQ5_uc011dyi.1_Missense_Mutation_p.T664I|KCNQ5_uc010kat.2_Missense_Mutation_p.T645I|KCNQ5_uc011dyj.1_Missense_Mutation_p.T544I|KCNQ5_uc011dyk.1_Missense_Mutation_p.T404I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	654					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904338	73904338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904338C>T	uc003pgk.2	+	14	2347	c.2000C>T	c.(1999-2001)TCG>TTG	p.S667L	KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	667					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904905	73904905	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904905G>A	uc003pgk.2	+	14	2914	c.2567G>A	c.(2566-2568)GGC>GAC	p.G856D	KCNQ5_uc011dyh.1_Missense_Mutation_p.G875D|KCNQ5_uc011dyi.1_Missense_Mutation_p.G866D|KCNQ5_uc010kat.2_Missense_Mutation_p.G847D|KCNQ5_uc011dyj.1_Missense_Mutation_p.G746D|KCNQ5_uc011dyk.1_Missense_Mutation_p.G606D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	856					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74107473	74107473	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74107473C>T	uc003pgw.2	+						OOEP_uc003pgv.3_5'Flank|DDX43_uc011dyn.1_Intron	NM_018665	NP_061135			DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4																		---	---	---	---
MTO1	25821	broad.mit.edu	37	6	74210336	74210336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74210336G>A	uc003pgy.3	+	13	2156	c.2032G>A	c.(2032-2034)GCC>ACC	p.A678T	MTO1_uc010kav.2_Missense_Mutation_p.A693T|MTO1_uc003pgz.3_Missense_Mutation_p.A653T|MTO1_uc003pha.3_Missense_Mutation_p.A315T|MTO1_uc003phb.3_Missense_Mutation_p.A604T	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	678					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74476735	74476735	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74476735T>C	uc003php.2	+	13	1922	c.1497_splice	c.e13+2	p.M499_splice	CD109_uc010kaz.2_Splice_Site_p.M499_splice|CD109_uc003phq.2_Splice_Site_p.M499_splice|CD109_uc010kba.2_Splice_Site_p.M422_splice	NM_133493	NP_598000			CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74481262	74481262	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74481262T>C	uc003php.2	+	15	2210	c.1785T>C	c.(1783-1785)AGT>AGC	p.S595S	CD109_uc010kaz.2_Silent_p.S595S|CD109_uc003phq.2_Silent_p.S595S|CD109_uc010kba.2_Silent_p.S518S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	595	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75827138	75827138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75827138T>C	uc003phs.2	-	47	7645	c.7479A>G	c.(7477-7479)GAA>GAG	p.E2493E	COL12A1_uc003pht.2_Silent_p.E1329E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2493	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75833968	75833968	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75833968T>A	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75853014	75853014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75853014C>T	uc003phs.2	-	26	4947	c.4781G>A	c.(4780-4782)CGT>CAT	p.R1594H	COL12A1_uc003pht.2_Missense_Mutation_p.R430H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1594	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75884990	75884990	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75884990G>T	uc003phs.2	-	13	2640	c.2474C>A	c.(2473-2475)CCT>CAT	p.P825H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	825	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75898176	75898176	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75898176G>A	uc003phs.2	-	8	1065	c.899C>T	c.(898-900)GCC>GTC	p.A300V	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	300	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023662	76023662	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76023662A>G	uc003pia.2	-	5	2259	c.1886T>C	c.(1885-1887)ATT>ACT	p.I629T	FILIP1_uc003phy.1_Missense_Mutation_p.I629T|FILIP1_uc003phz.2_Missense_Mutation_p.I530T|FILIP1_uc010kbe.2_Missense_Mutation_p.I632T|FILIP1_uc003pib.1_Missense_Mutation_p.I381T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	629	Potential.									skin(3)|ovary(1)	4																		---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76545675	76545675	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76545675T>C	uc003pih.1	+	7	832	c.553_splice	c.e7+2	p.A185_splice	MYO6_uc003pig.1_Splice_Site_p.A185_splice|MYO6_uc003pii.1_Splice_Site_p.A185_splice	NM_004999	NP_004990			myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76617407	76617407	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76617407A>G	uc003pih.1	+	31	3541	c.3262A>G	c.(3262-3264)ACC>GCC	p.T1088A	MYO6_uc003pig.1_Missense_Mutation_p.T1065A|MYO6_uc003pii.1_Missense_Mutation_p.T1065A|MYO6_uc003pij.1_Missense_Mutation_p.T45A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1097					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76657071	76657071	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76657071G>A	uc003pik.1	-	14	2134	c.2004C>T	c.(2002-2004)CTC>CTT	p.L668L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	668	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715197	76715197	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76715197T>G	uc003pik.1	-	10	1072	c.942A>C	c.(940-942)GAA>GAC	p.E314D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	314	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76734953	76734953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76734953T>C	uc003pik.1	-	5	650	c.520A>G	c.(520-522)AAG>GAG	p.K174E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	174					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
SH3BGRL2	83699	broad.mit.edu	37	6	80409210	80409210	+	Intron	SNP	T	A	A	rs35728679		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80409210T>A	uc003piz.1	+							NM_031469	NP_113657			SH3 domain binding glutamic acid-rich protein							nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)														---	---	---	---
BCKDHB	594	broad.mit.edu	37	6	80816557	80816557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80816557G>A	uc003pjd.2	+	1	214	c.147G>A	c.(145-147)CGG>CGA	p.R49R	BCKDHB_uc003pje.2_Silent_p.R49R	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	49					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)														---	---	---	---
UBE2CBP	90025	broad.mit.edu	37	6	83732251	83732251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83732251T>C	uc003pjp.2	-	7	875	c.767A>G	c.(766-768)CAG>CGG	p.Q256R	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.Q46R	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	256	Interaction with UBE2C.					cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83818737	83818737	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83818737T>A	uc003pjs.1	+	5	689	c.429T>A	c.(427-429)GGT>GGA	p.G143G	DOPEY1_uc011dyy.1_Silent_p.G143G|DOPEY1_uc010kbl.1_Silent_p.G143G	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	143					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83823030	83823030	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83823030C>T	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83830457	83830457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83830457A>G	uc003pjs.1	+	10	1306	c.1046A>G	c.(1045-1047)CAG>CGG	p.Q349R	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q340R|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q340R	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	349					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83848231	83848231	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83848231A>G	uc003pjs.1	+	21	4730	c.4470A>G	c.(4468-4470)ATA>ATG	p.I1490M	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1481M|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1481M|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1490					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83863667	83863667	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83863667T>C	uc003pjs.1	+	32	6554	c.6294T>C	c.(6292-6294)AGT>AGC	p.S2098S	DOPEY1_uc011dyy.1_Silent_p.S2089S|DOPEY1_uc010kbl.1_Silent_p.S2089S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2098					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
PGM3	5238	broad.mit.edu	37	6	83888390	83888390	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83888390A>G	uc003pjv.2	-	8	1069	c.1029_splice	c.e8+1	p.K343_splice	PGM3_uc003pjw.2_Splice_Site_p.K262_splice|PGM3_uc011dyz.1_Splice_Site_p.K371_splice	NM_015599	NP_056414			phosphoglucomutase 3						dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)														---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84799100	84799100	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84799100A>G	uc003pkg.3	+	4	708	c.518A>G	c.(517-519)GAC>GGC	p.D173G	MRAP2_uc010kbo.2_Missense_Mutation_p.D87G	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	173					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2																		---	---	---	---
KIAA1009	22832	broad.mit.edu	37	6	84910585	84910585	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84910585T>C	uc010kbp.2	-	9	854	c.757A>G	c.(757-759)AAT>GAT	p.N253D	KIAA1009_uc003pkj.3_Missense_Mutation_p.N177D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N253D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	253					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)														---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446856	85446856	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85446856A>G	uc003pkl.1	-	8	1371	c.1371T>C	c.(1369-1371)TAT>TAC	p.Y457Y	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86267737	86267737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86267737T>C	uc003pkr.2	-	7	784	c.591A>G	c.(589-591)GCA>GCG	p.A197A	SNX14_uc003pkp.2_Silent_p.A60A|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.A145A|SNX14_uc003pks.2_Silent_p.A153A|SNX14_uc003pkt.2_Silent_p.A197A	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	197	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)														---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86329028	86329028	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86329028A>T	uc003pla.2	-	9	1657	c.1116T>A	c.(1114-1116)GAT>GAA	p.D372E	SYNCRIP_uc003pku.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D337E|SYNCRIP_uc003pky.2_Missense_Mutation_p.D274E|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D220E|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D337E	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	372	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)														---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965271	87965271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87965271T>G	uc003plm.3	+	8	1965	c.1924T>G	c.(1924-1926)TCA>GCA	p.S642A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88227990	88227990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88227990A>G	uc003pme.2	-						RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron	NM_020320	NP_064716			arginyl-tRNA synthetase 2, mitochondrial						arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)														---	---	---	---
ORC3L	23595	broad.mit.edu	37	6	88367632	88367632	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88367632T>A	uc003pmh.2	+						ORC3L_uc011dzn.1_Intron|ORC3L_uc003pmg.2_Intron|ORC3L_uc003pmi.2_Intron|ORC3L_uc011dzo.1_Intron|ORC3L_uc011dzp.1_Intron	NM_012381	NP_036513			origin recognition complex, subunit 3 isoform 2						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88385594	88385594	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88385594T>C	uc003pmk.2	-	4	1168	c.585A>G	c.(583-585)GGA>GGG	p.G195G		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	195					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88387678	88387678	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88387678T>C	uc003pmk.2	-	3	970	c.387A>G	c.(385-387)TCA>TCG	p.S129S		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	129					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853779	88853779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88853779T>C	uc011dzq.1	-	2	4778	c.1215A>G	c.(1213-1215)CGA>CGG	p.R405R	CNR1_uc010kbz.2_Silent_p.R405R|CNR1_uc011dzr.1_Silent_p.R405R|CNR1_uc011dzs.1_Silent_p.R405R|CNR1_uc003pmq.3_Silent_p.R405R|CNR1_uc011dzt.1_Silent_p.R405R|CNR1_uc010kca.2_Silent_p.R372R	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	405	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888794	89888794	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89888794A>T	uc003pna.2	-						GABRR1_uc011dzv.1_Intron	NM_002042	NP_002033			gamma-aminobutyric acid (GABA) receptor, rho 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89890057	89890057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89890057T>C	uc003pna.2	-	9	1555	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GABRR1_uc011dzv.1_Missense_Mutation_p.Y344C	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	367	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372614	90372614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372614T>C	uc003pnn.1	-	86	14425	c.14309A>G	c.(14308-14310)GAA>GGA	p.E4770G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4770					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372634	90372634	+	Missense_Mutation	SNP	C	T	T	rs116035185	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372634C>T	uc003pnn.1	-	86	14405	c.14289G>A	c.(14287-14289)ATG>ATA	p.M4763I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4763					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410395	90410395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410395T>C	uc003pnn.1	-	56	8724	c.8608A>G	c.(8608-8610)AGA>GGA	p.R2870G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2870					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410508	90410508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410508T>C	uc003pnn.1	-	56	8611	c.8495A>G	c.(8494-8496)CAG>CGG	p.Q2832R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2832					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90482319	90482319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90482319T>C	uc003pnn.1	-	14	2172	c.2056A>G	c.(2056-2058)ACC>GCC	p.T686A	MDN1_uc003pno.1_Missense_Mutation_p.T104A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	686					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90491146	90491146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90491146T>C	uc003pnn.1	-	10	1731	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.T539A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90494776	90494776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90494776C>A	uc003pnn.1	-	9	1520	c.1404G>T	c.(1402-1404)TGG>TGT	p.W468C	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.W468C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	468					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90571956	90571956	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90571956G>T	uc003pnr.2	+	7	724	c.528G>T	c.(526-528)AAG>AAT	p.K176N	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K176N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K176N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	176					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90577062	90577062	+	Silent	SNP	C	T	T	rs147437828	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90578332	90578332	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90578332A>G	uc003pnr.2	+	8	5519	c.5323A>G	c.(5323-5325)AAG>GAG	p.K1775E	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1775E|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1775E	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1775	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90642371	90642371	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90642371G>A	uc011eab.1	-	9	3091	c.2282C>T	c.(2281-2283)GCA>GTA	p.A761V	BACH2_uc003pnw.2_Missense_Mutation_p.A761V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	761						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661298	90661298	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661298G>A	uc011eab.1	-	7	1336	c.527C>T	c.(526-528)GCC>GTC	p.A176V	BACH2_uc003pnw.2_Missense_Mutation_p.A176V|BACH2_uc010kch.2_Missense_Mutation_p.A176V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	176						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661318	90661318	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661318C>T	uc011eab.1	-	7	1316	c.507G>A	c.(505-507)GAG>GAA	p.E169E	BACH2_uc003pnw.2_Silent_p.E169E|BACH2_uc010kch.2_Silent_p.E169E	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	169	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226365	91226365	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91226365T>C	uc003pnz.1	-	17	1838	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	MAP3K7_uc003pny.1_Missense_Mutation_p.K96R|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.K532R|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	559					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91233425	91233425	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91233425A>T	uc003pnz.1	-	14	1596	c.1434T>A	c.(1432-1434)AGT>AGA	p.S478R	MAP3K7_uc003pny.1_Missense_Mutation_p.S15R|MAP3K7_uc003poa.1_Missense_Mutation_p.S478R|MAP3K7_uc003pob.1_Missense_Mutation_p.S451R|MAP3K7_uc003poc.1_Missense_Mutation_p.S451R	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	478					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91260185	91260185	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91260185A>T	uc003pnz.1	-	9	1111	c.949_splice	c.e9+1	p.G317_splice	MAP3K7_uc003poa.1_Splice_Site_p.G317_splice|MAP3K7_uc003pob.1_Splice_Site_p.G317_splice|MAP3K7_uc003poc.1_Splice_Site_p.G317_splice	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91266208	91266208	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91266208T>A	uc003pnz.1	-						MAP3K7_uc003poa.1_Intron|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651601	96651601	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96651601C>T	uc003pop.3	+	3	911	c.570C>T	c.(568-570)TGC>TGT	p.C190C		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	190	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)														---	---	---	---
KIAA0776	23376	broad.mit.edu	37	6	96986536	96986536	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96986536A>C	uc003por.2	+	10	1056	c.1008A>C	c.(1006-1008)GAA>GAC	p.E336D	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	336					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97634560	97634560	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97634560C>T	uc003ppb.2	-	15	2312	c.2046G>A	c.(2044-2046)ATG>ATA	p.M682I	C6orf167_uc011eaf.1_Missense_Mutation_p.M642I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	682					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---
C6orf168	84553	broad.mit.edu	37	6	99729068	99729068	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99729068T>A	uc003ppj.3	-	6	1485	c.1202A>T	c.(1201-1203)GAC>GTC	p.D401V	C6orf168_uc003ppi.3_Missense_Mutation_p.D121V	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99849264	99849264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99849264T>C	uc003ppo.3	-	12	1798	c.1570A>G	c.(1570-1572)ACT>GCT	p.T524A	SFRS18_uc003ppl.2_Missense_Mutation_p.T70A|SFRS18_uc003ppp.3_Missense_Mutation_p.T524A|SFRS18_uc011eag.1_Missense_Mutation_p.T524A	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	524	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99862500	99862500	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99862500C>A	uc003ppo.3	-	3	264	c.36G>T	c.(34-36)TGG>TGT	p.W12C	SFRS18_uc003ppp.3_Missense_Mutation_p.W12C|SFRS18_uc011eag.1_Missense_Mutation_p.W12C|SFRS18_uc003ppr.2_Missense_Mutation_p.W12C|SFRS18_uc003ppt.2_Missense_Mutation_p.W12C|SFRS18_uc003pps.2_Missense_Mutation_p.W12C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	12	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841584	100841584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100841584G>A	uc003pqj.3	-	10	1556	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	SIM1_uc010kcu.2_Missense_Mutation_p.A450V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101073063	101073063	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101073063C>A	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101090637	101090637	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101090637T>C	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101099511	101099511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101099511T>C	uc003pqk.2	-	19	3329	c.3000A>G	c.(2998-3000)GAA>GAG	p.E1000E	ASCC3_uc011eai.1_Silent_p.E902E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1000	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296112	101296112	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296112A>G	uc003pqk.2	-	4	1042	c.713T>C	c.(712-714)ATG>ACG	p.M238T	ASCC3_uc011eai.1_Missense_Mutation_p.M140T|ASCC3_uc003pql.2_Missense_Mutation_p.M238T|ASCC3_uc010kcv.2_Missense_Mutation_p.M238T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296277	101296277	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296277G>T	uc003pqk.2	-	4	877	c.548C>A	c.(547-549)CCA>CAA	p.P183Q	ASCC3_uc011eai.1_Missense_Mutation_p.P85Q|ASCC3_uc003pql.2_Missense_Mutation_p.P183Q|ASCC3_uc010kcv.2_Missense_Mutation_p.P183Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105606454	105606454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105606454T>C	uc003prb.2	-	4	1169	c.767A>G	c.(766-768)TAT>TGT	p.Y256C	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	256						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)																---	---	---	---
PREP	5550	broad.mit.edu	37	6	105736671	105736671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105736671G>A	uc003prc.2	-	11	1619	c.1416C>T	c.(1414-1416)GGC>GGT	p.G472G		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	472					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---
AIM1	202	broad.mit.edu	37	6	106968337	106968337	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106968337C>T	uc003prh.2	+	2	2517	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	677							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---
RTN4IP1	84816	broad.mit.edu	37	6	107050795	107050795	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107050795A>G	uc003prj.2	-	5	1100	c.623T>C	c.(622-624)GTT>GCT	p.V208A	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.V108A	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	208						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)														---	---	---	---
QRSL1	55278	broad.mit.edu	37	6	107096961	107096961	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107096961T>A	uc003prm.2	+	5	558	c.442T>A	c.(442-444)TAT>AAT	p.Y148N	QRSL1_uc003prl.2_Missense_Mutation_p.Y148N	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	148					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)														---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108067978	108067978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108067978G>A	uc010kdf.2	-	4	653	c.402C>T	c.(400-402)GCC>GCT	p.A134A	SCML4_uc003prz.3_Silent_p.A76A|SCML4_uc011eam.1_Silent_p.A134A|SCML4_uc003psa.3_Silent_p.A105A	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108246125	108246125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108246125A>G	uc003psc.3	-	3	505	c.236T>C	c.(235-237)CTG>CCG	p.L79P		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	79	Helical; (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
OSTM1	28962	broad.mit.edu	37	6	108395540	108395540	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108395540C>T	uc003psd.2	-	1	402	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	106	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109282770	109282770	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109282770T>C	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109315666	109315666	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109315666T>C	uc003pst.3	-	6	1034	c.942A>G	c.(940-942)TCA>TCG	p.S314S	SESN1_uc003psu.2_Silent_p.S373S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	314					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)														---	---	---	---
C6orf182	285753	broad.mit.edu	37	6	109484127	109484127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109484127A>G	uc010kdk.2	+	13	1914	c.1337A>G	c.(1336-1338)AAT>AGT	p.N446S	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.N446S|C6orf182_uc003psy.3_Missense_Mutation_p.N446S	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	446						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)														---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109748083	109748083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109748083G>A	uc003ptg.3	-	5	652	c.598C>T	c.(598-600)CGA>TGA	p.R200*	PPIL6_uc010kdo.2_Nonsense_Mutation_p.R168*|PPIL6_uc010kdp.2_Nonsense_Mutation_p.R200*	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	200	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)														---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109803146	109803146	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109803146C>A	uc003ptl.1	-	2	252	c.84G>T	c.(82-84)GAG>GAT	p.E28D	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.E28D|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.E28D	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	28	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)														---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109854523	109854523	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109854523C>G	uc003ptn.2	-	28	3578	c.3501G>C	c.(3499-3501)AAG>AAC	p.K1167N	AKD1_uc011eat.1_Missense_Mutation_p.K246N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1167					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109867248	109867248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109867248T>C	uc003ptn.2	-	26	3124	c.3047A>G	c.(3046-3048)AAC>AGC	p.N1016S	AKD1_uc011eat.1_Missense_Mutation_p.N95S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1016					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109871475	109871475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109871475G>A	uc003ptn.2	-	25	2859	c.2782C>T	c.(2782-2784)CAT>TAT	p.H928Y	AKD1_uc011eat.1_Missense_Mutation_p.H7Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	928					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300428	110300428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300428C>T	uc011eaw.1	+	2	293	c.113C>T	c.(112-114)CCC>CTC	p.P38L	GPR6_uc011eav.1_Missense_Mutation_p.P53L|GPR6_uc003ptu.2_Missense_Mutation_p.P38L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	38	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300509	110300509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300509C>T	uc011eaw.1	+	2	374	c.194C>T	c.(193-195)CCG>CTG	p.P65L	GPR6_uc011eav.1_Missense_Mutation_p.P80L|GPR6_uc003ptu.2_Missense_Mutation_p.P65L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	65	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300639	110300639	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300639C>T	uc011eaw.1	+	2	504	c.324C>T	c.(322-324)TTC>TTT	p.F108F	GPR6_uc011eav.1_Silent_p.F123F|GPR6_uc003ptu.2_Silent_p.F108F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	108	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110768070	110768070	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110768070A>G	uc003puf.2	-						SLC22A16_uc003pue.2_Intron	NM_033125	NP_149116			solute carrier family 22, member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110777921	110777921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110777921C>T	uc003puf.2	-	2	420	c.353G>A	c.(352-354)GGC>GAC	p.G118D	SLC22A16_uc003pue.2_Missense_Mutation_p.G99D|SLC22A16_uc003pug.2_Missense_Mutation_p.G118D	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	118					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
AMD1	262	broad.mit.edu	37	6	111213504	111213504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111213504A>G	uc003puk.1	+	6	795	c.473A>G	c.(472-474)TAC>TGC	p.Y158C	AMD1_uc011eay.1_Missense_Mutation_p.Y89C|AMD1_uc011eaz.1_Missense_Mutation_p.Y129C|AMD1_uc011eba.1_Missense_Mutation_p.Y38C|AMD1_uc003pul.1_Missense_Mutation_p.Y10C	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	158					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)													---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111585063	111585063	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111585063T>C	uc003puv.3	+	3	649	c.227T>C	c.(226-228)CTT>CCT	p.L76P		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	76	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)														---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111694279	111694279	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111694279T>A	uc003puy.3	-	13	5602	c.5279A>T	c.(5278-5280)GAT>GTT	p.D1760V	REV3L_uc003pux.3_Missense_Mutation_p.D1682V|REV3L_uc003puz.3_Missense_Mutation_p.D1682V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1760					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696103	111696103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696103C>T	uc003puy.3	-	13	3778	c.3455G>A	c.(3454-3456)GGT>GAT	p.G1152D	REV3L_uc003pux.3_Missense_Mutation_p.G1074D|REV3L_uc003puz.3_Missense_Mutation_p.G1074D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1152					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696362	111696362	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696362T>C	uc003puy.3	-	13	3519	c.3196A>G	c.(3196-3198)AAT>GAT	p.N1066D	REV3L_uc003pux.3_Missense_Mutation_p.N988D|REV3L_uc003puz.3_Missense_Mutation_p.N988D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1066					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726841	111726841	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726841A>T	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726843	111726843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726843A>G	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
FYN	2534	broad.mit.edu	37	6	112041137	112041137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112041137G>A	uc003pvj.2	-	3	458	c.118C>T	c.(118-120)CCC>TCC	p.P40S	FYN_uc003pvi.2_Missense_Mutation_p.P40S|FYN_uc003pvk.2_Missense_Mutation_p.P40S|FYN_uc003pvh.2_Missense_Mutation_p.P40S	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	40					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)													---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114267237	114267237	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114267237A>T	uc003pwd.1	-	9	1199	c.1199T>A	c.(1198-1200)ATC>AAC	p.I400N	HDAC2_uc003pwc.1_Missense_Mutation_p.I276N|HDAC2_uc003pwe.1_Missense_Mutation_p.I276N	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)													---	---	---	---
DSE	29940	broad.mit.edu	37	6	116758204	116758204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116758204A>G	uc003pws.2	+	6	2767	c.2573A>G	c.(2572-2574)GAC>GGC	p.D858G	DSE_uc011ebg.1_Missense_Mutation_p.D877G|DSE_uc003pwt.2_Missense_Mutation_p.D858G|DSE_uc003pwu.2_Missense_Mutation_p.D525G	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	858					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)														---	---	---	---
ZUFSP	221302	broad.mit.edu	37	6	116987885	116987885	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116987885T>C	uc003pxf.1	-	2	717	c.471A>G	c.(469-471)CCA>CCG	p.P157P	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	157	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)														---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117113550	117113550	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117113550T>C	uc003pxj.1	-	6	2558	c.2536A>G	c.(2536-2538)AAG>GAG	p.K846E	GPRC6A_uc003pxk.1_Missense_Mutation_p.K671E|GPRC6A_uc003pxl.1_Missense_Mutation_p.K775E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	846	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)														---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237196	117237196	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237196A>G	uc003pxm.2	+	8	869	c.806A>G	c.(805-807)AAA>AGA	p.K269R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	269					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117700211	117700211	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117700211A>G	uc003pxp.1	-						ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935			proto-oncogene c-ros-1 protein precursor						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117715341	117715341	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117715341A>G	uc003pxp.1	-	10	1347	c.1148T>C	c.(1147-1149)TTC>TCC	p.F383S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	383	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ASF1A	25842	broad.mit.edu	37	6	119221946	119221946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119221946T>C	uc011ebn.1	+	2	462	c.125T>C	c.(124-126)ATT>ACT	p.I42T		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	42	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119341193	119341193	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119341193T>G	uc003pyj.2	-	4	1630	c.1282A>C	c.(1282-1284)ACC>CCC	p.T428P	FAM184A_uc003pyk.3_Missense_Mutation_p.T308P|FAM184A_uc003pyl.3_Missense_Mutation_p.T308P	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	428	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
C6orf170	221322	broad.mit.edu	37	6	121452891	121452891	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121452891A>T	uc003pyo.1	-	25	2849	c.2781T>A	c.(2779-2781)GAT>GAA	p.D927E	C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_Missense_Mutation_p.D26E|C6orf170_uc003pyp.1_Missense_Mutation_p.D487E	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	927					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)														---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768523	121768523	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768523A>G	uc003pyr.2	+	2	780	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	GJA1_uc011ebo.1_Missense_Mutation_p.Y78C|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	177	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768775	121768775	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768775G>T	uc003pyr.2	+	2	1032	c.782G>T	c.(781-783)GGG>GTG	p.G261V	GJA1_uc011ebo.1_Missense_Mutation_p.G162V|GJA1_uc011ebp.1_Missense_Mutation_p.G49V	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	261	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122777743	122777743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:122777743A>G	uc003pyy.1	-	3	324	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	85	Lumenal (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)														---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332155	123332155	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332155G>A	uc003pzi.1	+	3	1284	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	139	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125541286	125541286	+	Missense_Mutation	SNP	T	C	C	rs150625143	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125541286T>C	uc003pzu.1	+	2	301	c.82T>C	c.(82-84)TCT>CCT	p.S28P	TPD52L1_uc003pzv.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzw.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	28	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
HDDC2	51020	broad.mit.edu	37	6	125621699	125621699	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125621699C>T	uc003qaa.1	-	2	395	c.191G>A	c.(190-192)CGT>CAT	p.R64H	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	64	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)														---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126203608	126203608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126203608G>A	uc010kes.2	+	9	1059	c.610G>A	c.(610-612)GAA>AAA	p.E204K	NCOA7_uc003qae.3_Missense_Mutation_p.E204K|NCOA7_uc003qah.2_Missense_Mutation_p.E204K|NCOA7_uc003qai.2_Missense_Mutation_p.E204K|NCOA7_uc010ket.2_Missense_Mutation_p.E100K|NCOA7_uc003qaf.2_Missense_Mutation_p.E204K|NCOA7_uc003qag.2_Missense_Mutation_p.E204K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	204					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---
HINT3	135114	broad.mit.edu	37	6	126293417	126293417	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126293417T>C	uc003qal.3	+	3	595	c.332T>C	c.(331-333)GTA>GCA	p.V111A	HINT3_uc010keu.2_Missense_Mutation_p.V2A	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	111	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)														---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127476519	127476519	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127476519T>C	uc003qar.2	+	4	860	c.570T>C	c.(568-570)TGT>TGC	p.C190C	RSPO3_uc003qas.1_Silent_p.C190C	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	190	TSP type-1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)														---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608346	127608346	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127608346C>T	uc003qav.2	+	3	747	c.588C>T	c.(586-588)AGC>AGT	p.S196S	RNF146_uc003qat.2_Silent_p.S195S|RNF146_uc003qau.2_Silent_p.S195S|RNF146_uc003qaw.2_Silent_p.S195S	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	196					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127836177	127836177	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127836177G>T	uc003qbd.2	-	3	1982	c.1117C>A	c.(1117-1119)CTG>ATG	p.L373M		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	373	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837089	127837089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837089C>T	uc003qbd.2	-	2	1536	c.671G>A	c.(670-672)GGC>GAC	p.G224D		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	224	Gly-rich.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837612	127837612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837612G>A	uc003qbd.2	-	2	1013	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	50						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128040898	128040898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128040898C>A	uc003qbi.2	-	6	2148	c.1829G>T	c.(1828-1830)GGT>GTT	p.G610V	THEMIS_uc010kfa.2_Missense_Mutation_p.G513V|THEMIS_uc011ebt.1_Missense_Mutation_p.G649V|THEMIS_uc010kfb.2_Missense_Mutation_p.G575V	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	610					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128302346	128302346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128302346T>C	uc003qbk.2	-	25	3990	c.3623A>G	c.(3622-3624)GAC>GGC	p.D1208G	PTPRK_uc003qbj.2_Missense_Mutation_p.D1209G|PTPRK_uc010kfc.2_Missense_Mutation_p.D1215G|PTPRK_uc011ebu.1_Missense_Mutation_p.D1231G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1208	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128388793	128388793	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128388793C>T	uc003qbk.2	-	12	2395	c.2028G>A	c.(2026-2028)CCG>CCA	p.P676P	PTPRK_uc003qbj.2_Silent_p.P676P|PTPRK_uc010kfc.2_Silent_p.P676P|PTPRK_uc011ebu.1_Silent_p.P676P|PTPRK_uc003qbl.1_Silent_p.P546P|PTPRK_uc011ebv.1_Silent_p.P676P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	676	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128410836	128410836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128410836A>G	uc003qbk.2	-	8	1831	c.1464T>C	c.(1462-1464)GAT>GAC	p.D488D	PTPRK_uc003qbj.2_Silent_p.D488D|PTPRK_uc010kfc.2_Silent_p.D488D|PTPRK_uc011ebu.1_Silent_p.D488D|PTPRK_uc003qbl.1_Silent_p.D358D|PTPRK_uc011ebv.1_Silent_p.D488D	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	488	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129636704	129636704	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129636704A>G	uc003qbn.2	+	25	3744	c.3639A>G	c.(3637-3639)CAA>CAG	p.Q1213Q	LAMA2_uc003qbo.2_Silent_p.Q1213Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1213	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129704342	129704342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129704342G>T	uc003qbn.2	+	35	5140	c.5035G>T	c.(5035-5037)GGA>TGA	p.G1679*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1679*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1679	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129799866	129799866	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129799866G>A	uc003qbn.2	+	53	7585	c.7480G>A	c.(7480-7482)GGC>AGC	p.G2494S	LAMA2_uc003qbo.2_Missense_Mutation_p.G2490S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2494	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129802444	129802444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129802444G>A	uc003qbn.2	+	54	7714	c.7609G>A	c.(7609-7611)GTG>ATG	p.V2537M	LAMA2_uc003qbo.2_Missense_Mutation_p.V2533M|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2537	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129826384	129826384	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129826384G>T	uc003qbn.2	+	60	8692	c.8587G>T	c.(8587-8589)GTA>TTA	p.V2863L	LAMA2_uc003qbo.2_Missense_Mutation_p.V2859L|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2863	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130381225	130381225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130381225G>A	uc003qbt.2	+	10	974	c.804G>A	c.(802-804)ATG>ATA	p.M268I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.M243I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	268	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130425727	130425727	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130425727A>G	uc003qbt.2	+						L3MBTL3_uc003qbu.2_Intron	NM_032438	NP_115814			l(3)mbt-like 3 isoform a						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130465868	130465868	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130465868C>T	uc003qbv.2	-	13	1686	c.1360G>A	c.(1360-1362)GAG>AAG	p.E454K	SAMD3_uc003qbx.2_Missense_Mutation_p.E454K|SAMD3_uc003qbw.2_Missense_Mutation_p.E454K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	454										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131220650	131220650	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131220650A>T	uc003qch.2	-	8	1399	c.1217T>A	c.(1216-1218)GTT>GAT	p.V406D	EPB41L2_uc003qcg.1_Missense_Mutation_p.V406D|EPB41L2_uc011eby.1_Missense_Mutation_p.V406D|EPB41L2_uc003qci.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfk.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfl.1_Missense_Mutation_p.V406D	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	406	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225685	131225685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131225685A>T	uc003qch.2	-						EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Intron	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277431	131277431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277431C>T	uc003qch.2	-	2	377	c.195G>A	c.(193-195)GAG>GAA	p.E65E	EPB41L2_uc003qcg.1_Silent_p.E65E|EPB41L2_uc011eby.1_Silent_p.E65E|EPB41L2_uc003qci.2_Silent_p.E65E|EPB41L2_uc010kfk.2_Silent_p.E65E|EPB41L2_uc010kfl.1_Silent_p.E65E	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	65					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277633	131277633	+	Translation_Start_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277633G>T	uc003qch.2	-	2	175	c.-7C>A	c.(-9--5)AGCTG>AGATG		EPB41L2_uc003qcg.1_Translation_Start_Site|EPB41L2_uc011eby.1_Translation_Start_Site|EPB41L2_uc003qci.2_Translation_Start_Site|EPB41L2_uc010kfk.2_Translation_Start_Site|EPB41L2_uc010kfl.1_Translation_Start_Site	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131910744	131910744	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131910744A>G	uc003qcs.1	-						MED23_uc003qcq.2_Intron|MED23_uc003qcr.1_Intron	NM_004830	NP_004821			mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131915302	131915302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131915302C>T	uc003qcs.1	-	23	3343	c.3169G>A	c.(3169-3171)GAG>AAG	p.E1057K	MED23_uc003qcq.2_Missense_Mutation_p.E1063K|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.E698K	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1057					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131927653	131927653	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131927653T>A	uc003qcs.1	-	13	1507	c.1333A>T	c.(1333-1335)ATT>TTT	p.I445F	MED23_uc003qcq.2_Missense_Mutation_p.I451F|MED23_uc011eca.1_Missense_Mutation_p.I86F|MED23_uc003qct.1_Missense_Mutation_p.I451F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	445					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131992414	131992414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131992414A>G	uc003qcu.3	+	8	936	c.589A>G	c.(589-591)ATG>GTG	p.M197V	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.M163V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.M197V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	197	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)														---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132186085	132186085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132186085A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132194193	132194193	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132194193A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132636881	132636881	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132636881T>C	uc003qdf.2	-	10	1500	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	MOXD1_uc003qde.2_Silent_p.S399S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	467	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132695860	132695860	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132695860A>G	uc003qdf.2	-	2	420	c.321T>C	c.(319-321)CAT>CAC	p.H107H	MOXD1_uc003qde.2_Silent_p.H39H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	107	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132909949	132909949	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132909949A>C	uc003qdk.2	-	1	929	c.877T>G	c.(877-879)TTT>GTT	p.F293V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	293	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)														---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133072393	133072393	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133072393T>C	uc003qdt.2	-	5	1102	c.1091A>G	c.(1090-1092)GAG>GGG	p.E364G	VNN2_uc003qds.2_Missense_Mutation_p.E73G|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.E311G	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	364					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)														---	---	---	---
C6orf192	116843	broad.mit.edu	37	6	133092043	133092043	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133092043A>G	uc003qdw.1	-	13	1442	c.1290T>C	c.(1288-1290)TAT>TAC	p.Y430Y	C6orf192_uc010kgd.1_RNA	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	430	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133834178	133834178	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133834178T>C	uc003qec.3	+	16	1959	c.1501_splice	c.e16+2	p.G501_splice	EYA4_uc011ecq.1_Splice_Site_p.G447_splice|EYA4_uc011ecr.1_Splice_Site_p.G453_splice|EYA4_uc003qed.3_Splice_Site_p.G501_splice|EYA4_uc003qee.3_Splice_Site_p.G478_splice|EYA4_uc011ecs.1_Splice_Site_p.G507_splice|uc003qeg.1_Intron	NM_004100	NP_004091			eyes absent 4 isoform a						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210807	134210807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210807G>A	uc003qei.3	+	1	548	c.272G>A	c.(271-273)CGC>CAC	p.R91H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.R91H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	91	Basic motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210965	134210965	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210965T>C	uc003qei.3	+	1	706	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Y144H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	144					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135271131	135271131	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135271131A>G	uc003qew.2	-	1	114	c.61T>C	c.(61-63)TGT>CGT	p.C21R	ALDH8A1_uc003qex.2_Missense_Mutation_p.C21R|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.C21R	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	21					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135751062	135751062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135751062A>T	uc003qgi.2	-	18	2834	c.2450T>A	c.(2449-2451)ATC>AAC	p.I817N	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.I267N|AHI1_uc003qgh.2_Missense_Mutation_p.I817N|AHI1_uc003qgj.2_Missense_Mutation_p.I817N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I817N	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	817	WD 5.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135778714	135778714	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135778714A>G	uc003qgi.2	-	9	1453	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P	AHI1_uc003qgh.2_Missense_Mutation_p.S357P|AHI1_uc003qgj.2_Missense_Mutation_p.S357P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S357P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	357						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136173140	136173140	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136173140T>C	uc003qgp.2	+	1	307	c.4T>C	c.(4-6)TCT>CCT	p.S2P		NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	2					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136472325	136472325	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136472325A>G	uc003qgp.2	+	6	713	c.410A>G	c.(409-411)CAC>CGC	p.H137R	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.H189R	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	137					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599062	136599062	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599062G>T	uc003qgx.1	-	4	1210	c.957C>A	c.(955-957)TCC>TCA	p.S319S	BCLAF1_uc003qgw.1_Silent_p.S319S|BCLAF1_uc003qgy.1_Silent_p.S317S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.S317S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	319					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136677924	136677924	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136677924C>T	uc003qgz.2	-	16	2167	c.1921G>A	c.(1921-1923)GCA>ACA	p.A641T	MAP7_uc011edf.1_Missense_Mutation_p.A626T|MAP7_uc011edg.1_Missense_Mutation_p.A671T|MAP7_uc010kgu.2_Missense_Mutation_p.A663T|MAP7_uc011edh.1_Missense_Mutation_p.A626T|MAP7_uc010kgv.2_Missense_Mutation_p.A663T|MAP7_uc010kgs.2_Missense_Mutation_p.A495T|MAP7_uc011edi.1_Missense_Mutation_p.A495T|MAP7_uc010kgq.1_Missense_Mutation_p.A547T|MAP7_uc003qha.1_Missense_Mutation_p.A604T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	641					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187764	137187764	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187764G>A	uc003qhd.2	+	6	629	c.527_splice	c.e6-1	p.G176_splice	PEX7_uc010kgx.2_Splice_Site	NM_000288	NP_000279			peroxisomal biogenesis factor 7						ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187813	137187813	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187813T>A	uc003qhd.2	+	6	677	c.575T>A	c.(574-576)ATC>AAC	p.I192N	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	192					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519370	137519370	+	Missense_Mutation	SNP	C	A	A	rs121913188		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519370C>A	uc003qho.2	-	7	1371	c.1268G>T	c.(1267-1269)AGC>ATC	p.S423I	IFNGR1_uc011edm.1_Missense_Mutation_p.S395I	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	423	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519722	137519722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519722A>G	uc003qho.2	-	7	1019	c.916T>C	c.(916-918)TCA>CCA	p.S306P	IFNGR1_uc011edm.1_Missense_Mutation_p.S278P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	306	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138583990	138583990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138583990G>A	uc003qhu.2	+	12	1370	c.1370G>A	c.(1369-1371)CGC>CAC	p.R457H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	457					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)														---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139203916	139203916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139203916G>A	uc003qif.1	+	14	2039	c.1936G>A	c.(1936-1938)GTG>ATG	p.V646M	ECT2L_uc011edq.1_Missense_Mutation_p.V577M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	646	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
HECA	51696	broad.mit.edu	37	6	139487472	139487472	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139487472T>C	uc003qin.2	+	2	608	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	108					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)														---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139591760	139591760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139591760C>T	uc011eds.1	-	4	685	c.520G>A	c.(520-522)GAT>AAT	p.D174N		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	174	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)														---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142397169	142397169	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142397169G>A	uc003qiu.2	-	3	930	c.789C>T	c.(787-789)CGC>CGT	p.R263R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	263	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142714119	142714119	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142714119T>G	uc010khc.2	+	8	1754	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	GPR126_uc010khd.2_Missense_Mutation_p.V420G|GPR126_uc010khe.2_Missense_Mutation_p.V448G|GPR126_uc010khf.2_Missense_Mutation_p.V420G	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	448	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142741057	142741057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142741057G>A	uc010khc.2	+	22	3546	c.3135G>A	c.(3133-3135)GTG>GTA	p.V1045V	GPR126_uc010khd.2_Silent_p.V1017V|GPR126_uc010khe.2_Silent_p.V1045V|GPR126_uc010khf.2_Silent_p.V1017V|GPR126_uc011edv.1_Silent_p.V105V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1045	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142764510	142764510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142764510C>T	uc010khc.2	+	26	4068	c.3657C>T	c.(3655-3657)GGC>GGT	p.G1219G	GPR126_uc010khd.2_Silent_p.G1191G|GPR126_uc010khe.2_Missense_Mutation_p.A1204V|GPR126_uc010khf.2_Missense_Mutation_p.A1176V|GPR126_uc011edv.1_Missense_Mutation_p.A264V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1219	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143093789	143093789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143093789T>C	uc003qjd.2	-	5	2830	c.2087A>G	c.(2086-2088)AAA>AGA	p.K696R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---
STX11	8676	broad.mit.edu	37	6	144507898	144507898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144507898A>G	uc003qks.3	+	2	326	c.134A>G	c.(133-135)TAC>TGC	p.Y45C		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	45	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)										Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144747473	144747473	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144747473T>C	uc003qkt.2	+	6	548	c.456T>C	c.(454-456)AGT>AGC	p.S152S	UTRN_uc010khq.1_Silent_p.S152S	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	152	CH 2.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144750813	144750813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144750813G>A	uc003qkt.2	+	8	883	c.791G>A	c.(790-792)CGT>CAT	p.R264H	UTRN_uc010khq.1_Missense_Mutation_p.R264H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	264	Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144811253	144811253	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144811253T>C	uc003qkt.2	+	30	4273	c.4181T>C	c.(4180-4182)TTG>TCG	p.L1394S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1394	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144835835	144835835	+	Missense_Mutation	SNP	G	A	A	rs115466543	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144835835G>A	uc003qkt.2	+	36	5215	c.5123G>A	c.(5122-5124)CGC>CAC	p.R1708H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.|Spectrin 12.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145156925	145156925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145156925G>A	uc003qkt.2	+	69	9767	c.9675G>A	c.(9673-9675)GAG>GAA	p.E3225E		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3225					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126254	146126254	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146126254A>G	uc003qla.2	-	2	1487	c.1288T>C	c.(1288-1290)TTG>CTG	p.L430L	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	430							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)														---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720540	146720540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146720540T>C	uc010khw.1	+	8	2835	c.2365T>C	c.(2365-2367)TTC>CTC	p.F789L	GRM1_uc010khv.1_Missense_Mutation_p.F789L|GRM1_uc003qll.2_Missense_Mutation_p.F789L|GRM1_uc011edz.1_Missense_Mutation_p.F789L|GRM1_uc011eea.1_Missense_Mutation_p.F789L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	789	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755885	146755885	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146755885G>A	uc010khw.1	+	9	4008	c.3538G>A	c.(3538-3540)GCC>ACC	p.A1180T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1180	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147632675	147632675	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147632675A>G	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147655326	147655326	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147655326T>A	uc003qlz.2	+	19	2275	c.2114T>A	c.(2113-2115)GTT>GAT	p.V705D	STXBP5_uc010khz.1_Missense_Mutation_p.V705D|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V376D|STXBP5_uc003qma.2_Missense_Mutation_p.V52D	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	705					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147705839	147705839	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147705839T>C	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron|uc003qmb.2_5'Flank	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148854021	148854021	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148854021C>T	uc003qme.1	+	14	2128	c.1653C>T	c.(1651-1653)TAC>TAT	p.Y551Y	SASH1_uc011eeb.1_Silent_p.Y312Y|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	551							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865849	148865849	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865849G>C	uc003qme.1	+	18	3718	c.3243G>C	c.(3241-3243)TTG>TTC	p.L1081F	SASH1_uc011eeb.1_Missense_Mutation_p.L842F|SASH1_uc003qmf.1_Missense_Mutation_p.L491F	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1081							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
UST	10090	broad.mit.edu	37	6	149340278	149340278	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149340278A>G	uc003qmg.2	+	6	981	c.685A>G	c.(685-687)ATC>GTC	p.I229V		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	229	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)														---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149699659	149699659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149699659C>T	uc003qmj.2	+	3	786	c.608C>T	c.(607-609)CCT>CTT	p.P203L	TAB2_uc011eec.1_Missense_Mutation_p.P171L|TAB2_uc010kia.1_Missense_Mutation_p.P203L|TAB2_uc010kib.1_Missense_Mutation_p.P203L|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	203					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700267	149700267	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149700267A>G	uc003qmj.2	+	3	1394	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A	TAB2_uc011eec.1_Missense_Mutation_p.T374A|TAB2_uc010kia.1_Missense_Mutation_p.T406A|TAB2_uc010kib.1_Missense_Mutation_p.T406A|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149862572	149862572	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149862572A>G	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
C6orf72	116254	broad.mit.edu	37	6	149900053	149900053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149900053T>C	uc003qmq.1	+	4	400	c.373T>C	c.(373-375)TCC>CCC	p.S125P	C6orf72_uc010kie.1_Missense_Mutation_p.S5P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	125	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149924471	149924471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149924471A>G	uc003qmr.1	-	5	707	c.662T>C	c.(661-663)CTT>CCT	p.L221P	KATNA1_uc003qms.2_Missense_Mutation_p.L221P|KATNA1_uc003qmt.2_Intron|KATNA1_uc011eed.1_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	221					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149944357	149944357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149944357T>C	uc003qmr.1	-	3	428	c.383A>G	c.(382-384)AAT>AGT	p.N128S	KATNA1_uc003qms.2_Missense_Mutation_p.N128S|KATNA1_uc003qmt.2_Missense_Mutation_p.N128S|KATNA1_uc011eed.1_Missense_Mutation_p.N128S	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	128	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001426	150001426	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001426A>G	uc003qmu.1	-	5	2726	c.2178T>C	c.(2176-2178)GAT>GAC	p.D726D	LATS1_uc010kif.1_Silent_p.D621D|LATS1_uc003qmv.1_Silent_p.D726D	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	726	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001570	150001570	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001570C>A	uc003qmu.1	-	5	2582	c.2034G>T	c.(2032-2034)CAG>CAT	p.Q678H	LATS1_uc010kif.1_Missense_Mutation_p.Q573H|LATS1_uc003qmv.1_Missense_Mutation_p.Q678H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	678					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
IYD	389434	broad.mit.edu	37	6	150713543	150713543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150713543G>A	uc003qnu.1	+	3	573	c.433G>A	c.(433-435)GTG>ATG	p.V145M	IYD_uc003qnv.1_Missense_Mutation_p.V145M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V145M|IYD_uc010kik.1_Missense_Mutation_p.V63M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	145	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151270190	151270190	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151270190T>C	uc003qob.2	+	16	1915	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.D550D|MTHFD1L_uc003qoc.2_Silent_p.D497D	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	549	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151331062	151331062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151331062C>T	uc003qob.2	+	21	2501	c.2233C>T	c.(2233-2235)CGA>TGA	p.R745*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.R746*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.R693*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	745	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151687891	151687891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151687891C>T	uc003qoh.2	-	3	445	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)														---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151790133	151790133	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151790133C>T	uc003qok.1	+	5	1473	c.1214C>T	c.(1213-1215)GCT>GTT	p.A405V	C6orf211_uc011ees.1_Missense_Mutation_p.A286V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	405							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---
C6orf97	80129	broad.mit.edu	37	6	151869554	151869554	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151869554T>C	uc003qol.2	+	5	793	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	235	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152415579	152415579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152415579C>T	uc003qom.3	+	9	1799	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	ESR1_uc010kin.2_Nonsense_Mutation_p.R477*|ESR1_uc010kio.2_Nonsense_Mutation_p.R479*|ESR1_uc010kip.2_Nonsense_Mutation_p.R476*|ESR1_uc003qon.3_Nonsense_Mutation_p.R477*|ESR1_uc003qoo.3_Nonsense_Mutation_p.R477*|ESR1_uc010kiq.2_Nonsense_Mutation_p.R75*|ESR1_uc010kir.2_Nonsense_Mutation_p.R216*|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Nonsense_Mutation_p.R62*|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Nonsense_Mutation_p.R146*|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	477	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)													---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152453334	152453334	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152453334A>T	uc010kiw.2	-	144	26619	c.26017T>A	c.(26017-26019)TCT>ACT	p.S8673T	SYNE1_uc010kiv.2_Missense_Mutation_p.S3197T|SYNE1_uc003qos.3_Missense_Mutation_p.S3197T|SYNE1_uc003qot.3_Missense_Mutation_p.S8625T|SYNE1_uc003qou.3_Missense_Mutation_p.S8673T|SYNE1_uc003qop.3_Missense_Mutation_p.S858T|SYNE1_uc011eez.1_Missense_Mutation_p.S875T|SYNE1_uc003qoq.3_Missense_Mutation_p.S875T|SYNE1_uc003qor.3_Missense_Mutation_p.S1596T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8673	Ser-rich.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152473104	152473104	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152473104C>T	uc010kiw.2	-	134	24904	c.24302G>A	c.(24301-24303)CGC>CAC	p.R8101H	SYNE1_uc010kiv.2_Missense_Mutation_p.R2625H|SYNE1_uc003qos.3_Missense_Mutation_p.R2625H|SYNE1_uc003qot.3_Missense_Mutation_p.R8030H|SYNE1_uc003qou.3_Missense_Mutation_p.R8101H|SYNE1_uc003qop.3_Missense_Mutation_p.R263H|SYNE1_uc011eez.1_Missense_Mutation_p.R303H|SYNE1_uc003qoq.3_Missense_Mutation_p.R303H|SYNE1_uc003qor.3_Missense_Mutation_p.R1001H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8101	Spectrin 29.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152558018	152558018	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152558018G>A	uc010kiw.2	-	109	20735	c.20133C>T	c.(20131-20133)AGC>AGT	p.S6711S	SYNE1_uc010kiv.2_Silent_p.S1235S|SYNE1_uc003qos.3_Silent_p.S1235S|SYNE1_uc003qot.3_Silent_p.S6640S|SYNE1_uc003qou.3_Silent_p.S6711S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6711	Cytoplasmic (Potential).|Potential.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599230	152599230	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599230G>A	uc010kiw.2	-	98	19169	c.18567C>T	c.(18565-18567)AAC>AAT	p.N6189N	SYNE1_uc010kiv.2_Silent_p.N713N|SYNE1_uc003qos.3_Silent_p.N713N|SYNE1_uc003qot.3_Silent_p.N6118N|SYNE1_uc003qou.3_Silent_p.N6189N|SYNE1_uc010kiy.1_Silent_p.N368N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6189	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152652942	152652942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152652942T>C	uc010kiw.2	-	78	13480	c.12878A>G	c.(12877-12879)GAA>GGA	p.E4293G	SYNE1_uc003qot.3_Missense_Mutation_p.E4222G|SYNE1_uc003qou.3_Missense_Mutation_p.E4293G|SYNE1_uc010kiz.2_Missense_Mutation_p.E48G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4293	Cytoplasmic (Potential).|Spectrin 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152757241	152757241	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152757241A>G	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771898	152771898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771898A>G	uc010kiw.2	-	27	3859	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	SYNE1_uc003qot.3_Missense_Mutation_p.V1093A|SYNE1_uc003qou.3_Missense_Mutation_p.V1086A|SYNE1_uc010kjb.1_Missense_Mutation_p.V1069A|SYNE1_uc003qow.2_Missense_Mutation_p.V381A|SYNE1_uc003qox.1_Missense_Mutation_p.V602A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1086	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771937	152771937	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771937A>T	uc010kiw.2	-	27	3820	c.3218T>A	c.(3217-3219)CTC>CAC	p.L1073H	SYNE1_uc003qot.3_Missense_Mutation_p.L1080H|SYNE1_uc003qou.3_Missense_Mutation_p.L1073H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1056H|SYNE1_uc003qow.2_Missense_Mutation_p.L368H|SYNE1_uc003qox.1_Missense_Mutation_p.L589H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1073	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153043137	153043137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153043137G>T	uc003qpd.3	+	2	465	c.457G>T	c.(457-459)GCA>TCA	p.A153S	MYCT1_uc010kjc.1_Missense_Mutation_p.A105S|MYCT1_uc003qpc.3_Missense_Mutation_p.A153S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	153						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---
FBXO5	26271	broad.mit.edu	37	6	153293537	153293537	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153293537A>C	uc003qpg.2	-	4	1071	c.962T>G	c.(961-963)TTC>TGC	p.F321C	FBXO5_uc003qph.2_Missense_Mutation_p.F275C	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)														---	---	---	---
MTRF1L	54516	broad.mit.edu	37	6	153312324	153312324	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153312324A>T	uc003qpi.3	-	6	1043	c.938T>A	c.(937-939)ATT>AAT	p.I313N	MTRF1L_uc003qpl.3_Intron|MTRF1L_uc011efa.1_Missense_Mutation_p.I277N|MTRF1L_uc003qpj.3_Missense_Mutation_p.I171N|MTRF1L_uc003qpk.3_Intron	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	313						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)														---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360916	154360916	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154360916C>T	uc003qpr.2	+	1	474	c.237C>T	c.(235-237)ATC>ATT	p.I79I	OPRM1_uc011efb.1_Silent_p.I127I|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.I172I|OPRM1_uc003qpn.2_Silent_p.I79I|OPRM1_uc003qpo.1_Silent_p.I79I|OPRM1_uc011eff.1_Silent_p.I79I|OPRM1_uc011efg.1_Silent_p.I79I|OPRM1_uc011efh.1_Silent_p.I79I|OPRM1_uc003qpq.1_Silent_p.I79I|OPRM1_uc003qpt.1_Silent_p.I79I|OPRM1_uc011efi.1_Silent_p.I79I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	79	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154414463	154414463	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154414463A>G	uc003qpr.2	+						OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Intron|OPRM1_uc003qpo.1_Missense_Mutation_p.Y408C|OPRM1_uc011eff.1_Intron|OPRM1_uc011efg.1_Intron|OPRM1_uc011efh.1_Intron|OPRM1_uc003qpq.1_Intron|OPRM1_uc003qpt.1_Intron|OPRM1_uc011efi.1_Intron|OPRM1_uc003qpp.2_Intron|OPRM1_uc003qps.2_Intron|OPRM1_uc010kjg.2_Intron	NM_000914	NP_000905			opioid receptor, mu 1 isoform MOR-1						behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155113964	155113964	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155113964T>C	uc003qqa.2	+	6	561	c.329T>C	c.(328-330)ATA>ACA	p.I110T	RBM16_uc011efj.1_Missense_Mutation_p.I176T|RBM16_uc011efk.1_Missense_Mutation_p.I155T|RBM16_uc003qpz.2_Missense_Mutation_p.I110T|RBM16_uc010kji.2_Missense_Mutation_p.I131T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	110	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155153655	155153655	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155153655G>T	uc003qqa.2	+	21	3174	c.2942G>T	c.(2941-2943)AGA>ATA	p.R981I	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.R1047I|RBM16_uc011efk.1_Missense_Mutation_p.R1026I|RBM16_uc003qpz.2_Missense_Mutation_p.R981I|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	981	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155503432	155503432	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155503432A>G	uc003qqb.2	+	15	4053	c.2780A>G	c.(2779-2781)GAT>GGT	p.D927G	TIAM2_uc003qqe.2_Missense_Mutation_p.D927G|TIAM2_uc010kjj.2_Missense_Mutation_p.D460G|TIAM2_uc003qqf.2_Missense_Mutation_p.D303G|TIAM2_uc011efl.1_Missense_Mutation_p.D263G|TIAM2_uc003qqg.2_Missense_Mutation_p.D239G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	927	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155577773	155577773	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155577773A>G	uc003qqb.2	+	29	5897	c.4624A>G	c.(4624-4626)AAG>GAG	p.K1542E	TIAM2_uc003qqe.2_Missense_Mutation_p.K1542E|TIAM2_uc010kjj.2_Missense_Mutation_p.K1104E|TIAM2_uc003qqf.2_Missense_Mutation_p.K918E|TIAM2_uc011efl.1_Missense_Mutation_p.K886E|TIAM2_uc003qqg.2_Missense_Mutation_p.K854E|TIAM2_uc003qqh.2_Missense_Mutation_p.K467E|uc003qqi.1_RNA	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1542					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157470090	157470090	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157470090G>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron|ARID1B_uc003qqq.1_Missense_Mutation_p.A333T|ARID1B_uc010kjl.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157495225	157495225	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157495225A>G	uc003qqn.2	+	10	3048	c.2896A>G	c.(2896-2898)ACT>GCT	p.T966A	ARID1B_uc003qqo.2_Missense_Mutation_p.T979A|ARID1B_uc003qqp.2_Missense_Mutation_p.T966A|ARID1B_uc010kjl.2_Missense_Mutation_p.T164A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511165	157511165	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157511165T>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157525017	157525017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157525017C>T	uc003qqn.2	+	19	5010	c.4858C>T	c.(4858-4860)CGT>TGT	p.R1620C	ARID1B_uc003qqo.2_Missense_Mutation_p.R1580C|ARID1B_uc003qqp.2_Missense_Mutation_p.R1567C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1625					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
C6orf35	729515	broad.mit.edu	37	6	157714011	157714011	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157714011T>G	uc003sih.3	-	4	611	c.348A>C	c.(346-348)AAA>AAC	p.K116N		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	116						integral to membrane					0																		---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158532390	158532390	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158532390C>T	uc003qrc.2	-	17					SERAC1_uc003qrb.2_3'UTR	NM_032861	NP_116250			serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158873219	158873219	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158873219G>A	uc003qrf.2	+	5	2135	c.778G>A	c.(778-780)GTC>ATC	p.V260I	TULP4_uc011efo.1_Missense_Mutation_p.V260I|TULP4_uc003qrg.2_Missense_Mutation_p.V260I	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	260					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158925039	158925039	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158925039G>A	uc003qrf.2	+	13	5701	c.4344G>A	c.(4342-4344)CGG>CGA	p.R1448R	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1448					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159457718	159457718	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159457718G>A	uc003qrz.2	-	10	1669	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	TAGAP_uc011eft.1_Missense_Mutation_p.A383V|TAGAP_uc003qsa.2_Missense_Mutation_p.A268V	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653499	159653499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159653499G>A	uc010kjv.2	+	11	2155	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H	FNDC1_uc010kjw.1_Missense_Mutation_p.R537H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159654614	159654614	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159654614G>A	uc010kjv.2	+	11	3270	c.3070G>A	c.(3070-3072)GCG>ACG	p.A1024T	FNDC1_uc010kjw.1_Missense_Mutation_p.A909T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1024						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
MRPL18	29074	broad.mit.edu	37	6	160219095	160219095	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160219095A>T	uc003qsw.3	+	4	611	c.483A>T	c.(481-483)CTA>CTT	p.L161L	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	161					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)														---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160221765	160221765	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160221765T>A	uc003qsx.1	+	2	176	c.5T>A	c.(4-6)TTC>TAC	p.F2Y	PNLDC1_uc003qsy.1_Intron	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	2						integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328535	160328535	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160328535A>T	uc003qsz.2	+	1	562	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	183	Extracellular (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160469473	160469473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160469473C>T	uc003qta.2	+	18	2560	c.2412C>T	c.(2410-2412)GTC>GTT	p.V804V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	804	6.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160482540	160482540	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160482540G>A	uc003qta.2	+	24	3416	c.3268G>A	c.(3268-3270)GCT>ACT	p.A1090T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1090	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160484579	160484579	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160484579A>T	uc003qta.2	+	27	3951	c.3803A>T	c.(3802-3804)GAC>GTC	p.D1268V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1268	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
PLG	5340	broad.mit.edu	37	6	161127481	161127481	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161127481C>T	uc003qtm.3	+	2	155	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	31	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161173138	161173138	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161173138T>A	uc003qtm.3	+							NM_000301	NP_000292			plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161781224	161781224	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161781224T>C	uc003qtx.3	-	11	1315	c.1181A>G	c.(1180-1182)GAT>GGT	p.D394G	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D203G|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.D366G|PARK2_uc003qtz.3_Missense_Mutation_p.D245G|PARK2_uc011egf.1_Missense_Mutation_p.D68G	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	394					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715755	165715755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715755G>A	uc003qum.3	-	2	92	c.56C>T	c.(55-57)CCA>CTA	p.P19L	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	19											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165806270	165806270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165806270C>T	uc003qun.2	-	17	1732	c.1491G>A	c.(1489-1491)AAG>AAA	p.K497K	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K427K|PDE10A_uc003quo.2_Silent_p.K507K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	497					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)													---	---	---	---
T	6862	broad.mit.edu	37	6	166571914	166571914	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166571914T>C	uc003quu.1	-	9	1690	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	T_uc003qut.1_Silent_p.P400P|T_uc003quv.1_Silent_p.P341P	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	399					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										Chordoma_Familial_Clustering_of				---	---	---	---
BRP44L	51660	broad.mit.edu	37	6	166779545	166779545	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166779545C>T	uc011egn.1	-	3	344	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	BRP44L_uc003qva.2_RNA	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN	brain protein 44-like	74						mitochondrion				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166902367	166902367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166902367C>T	uc003qvb.1	-	10	1080	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	RPS6KA2_uc011ego.1_Silent_p.Q198Q|RPS6KA2_uc010kkl.1_Silent_p.Q198Q|RPS6KA2_uc003qvc.1_Silent_p.Q295Q|RPS6KA2_uc003qvd.1_Silent_p.Q312Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	287	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166944731	166944731	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166944731G>T	uc003qvb.1	-	3	506	c.287C>A	c.(286-288)GCC>GAC	p.A96D	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7D|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7D|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104D|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A121D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	96	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754976	167754976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167754976T>C	uc003qvs.1	+	3	1676	c.1588T>C	c.(1588-1590)TCG>CCG	p.S530P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	530					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168344744	168344744	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168344744G>T	uc003qwd.2	+						MLLT4_uc003qwb.1_Intron|MLLT4_uc003qwc.1_Intron|MLLT4_uc003qwg.1_Intron	NM_001040001	NP_001035090			myeloid/lymphoid or mixed-lineage leukemia						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168947785	168947785	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168947785C>T	uc003qws.1	+						SMOC2_uc003qwr.1_Silent_p.S177S	NM_022138	NP_071421			SPARC related modular calcium binding 2						signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168999591	168999591	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168999591G>A	uc003qws.1	+	8	751	c.731G>A	c.(730-732)GGC>GAC	p.G244D	SMOC2_uc003qwr.1_Missense_Mutation_p.G255D	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	244	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169053890	169053890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169053890G>A	uc003qws.1	+	11	1287	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	SMOC2_uc003qwr.1_Missense_Mutation_p.D434N|SMOC2_uc011egu.1_Missense_Mutation_p.D100N	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	423					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169625300	169625300	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169625300C>T	uc003qwt.2	-	18	2961	c.2713G>A	c.(2713-2715)GTC>ATC	p.V905I		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	905	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)														---	---	---	---
TCTE3	6991	broad.mit.edu	37	6	170151476	170151476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170151476G>A	uc003qxe.1	-	1	163	c.79C>T	c.(79-81)CCT>TCT	p.P27S	TCTE3_uc003qxf.2_RNA|C6orf70_uc003qxg.1_5'Flank|C6orf70_uc011ehb.1_5'Flank|C6orf70_uc003qxh.1_5'Flank|C6orf70_uc010kky.1_5'Flank	NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	27					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)														---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170176102	170176102	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170176102T>A	uc003qxg.1	+	15	1494	c.1461T>A	c.(1459-1461)TAT>TAA	p.Y487*	C6orf70_uc011ehb.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxh.1_Nonsense_Mutation_p.Y487*|C6orf70_uc010kky.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxi.1_Nonsense_Mutation_p.Y135*	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	487						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627418	170627418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170627418T>G	uc003qxp.2	+	2	1048	c.940T>G	c.(940-942)TTT>GTT	p.F314V	FAM120B_uc003qxo.1_Missense_Mutation_p.F314V|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	314					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)														---	---	---	---
HEATR2	54919	broad.mit.edu	37	7	810177	810177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:810177A>G	uc010krz.1	+	9	1873	c.1853A>G	c.(1852-1854)GAC>GGC	p.D618G	HEATR2_uc003siz.2_Missense_Mutation_p.D486G|HEATR2_uc003sja.2_Missense_Mutation_p.D76G|HEATR2_uc003sjb.2_5'UTR|HEATR2_uc003sjc.2_Missense_Mutation_p.D43G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	618	HEAT 7.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883126	883126	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883126G>A	uc011jvp.1	+	6	706	c.627G>A	c.(625-627)TCG>TCA	p.S209S	SUN1_uc010ksa.1_Silent_p.S230S|SUN1_uc003sje.1_Silent_p.S209S|SUN1_uc003sjf.2_Silent_p.S159S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.S20S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	209	SYNE2-binding.|Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
GPR146	115330	broad.mit.edu	37	7	1097377	1097377	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1097377C>T	uc003sjw.2	+	2	302	c.226C>T	c.(226-228)CTC>TTC	p.L76F	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.L76F|GPR146_uc003sjy.1_Missense_Mutation_p.L76F	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
GPER	2852	broad.mit.edu	37	7	1131927	1131927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1131927C>T	uc010ksd.1	+	2	952	c.563C>T	c.(562-564)GCC>GTC	p.A188V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A188V|GPER_uc003ska.1_Missense_Mutation_p.A188V|GPER_uc003skb.2_Missense_Mutation_p.A188V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	188	Helical; Name=4; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)														---	---	---	---
UNCX	340260	broad.mit.edu	37	7	1273256	1273256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1273256C>T	uc011jvw.1	+	2	375	c.375C>T	c.(373-375)AAC>AAT	p.N125N		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	125	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1513960	1513960	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1513960G>T	uc003skn.2	-	41	5774	c.5673C>A	c.(5671-5673)CGC>CGA	p.R1891R	INTS1_uc003skm.1_Silent_p.R28R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1891					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1526379	1526379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1526379C>T	uc003skn.2	-	22	2959	c.2858G>A	c.(2857-2859)CGC>CAC	p.R953H	INTS1_uc003skp.1_Missense_Mutation_p.R300H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	953					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1538925	1538925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1538925G>A	uc003skn.2	-	7	1017	c.916C>T	c.(916-918)CTG>TTG	p.L306L	INTS1_uc003skq.2_Silent_p.L306L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	306					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	1855722	1855722	+	Missense_Mutation	SNP	C	T	T	rs148957172	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1855722C>T	uc003slh.1	-	19	2407	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	MAD1L1_uc003sle.1_Missense_Mutation_p.R443H|MAD1L1_uc003slf.1_Missense_Mutation_p.R714H|MAD1L1_uc003slg.1_Missense_Mutation_p.R714H|MAD1L1_uc010ksh.1_Missense_Mutation_p.R714H|MAD1L1_uc003sli.1_Missense_Mutation_p.R622H|MAD1L1_uc003sld.1_Missense_Mutation_p.R170H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	714					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2262372	2262372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2262372G>A	uc003slh.1	-	5	575	c.309C>T	c.(307-309)AAC>AAT	p.N103N	MAD1L1_uc003slf.1_Silent_p.N103N|MAD1L1_uc003slg.1_Silent_p.N103N|MAD1L1_uc010ksh.1_Silent_p.N103N|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.N56N|MAD1L1_uc010ksj.2_Silent_p.N103N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	103	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2311504	2311504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2311504A>G	uc003slw.2	-	4	564	c.521T>C	c.(520-522)TTC>TCC	p.F174S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	174	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)														---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2770886	2770886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2770886C>T	uc003smu.2	-	4	1239	c.1075G>A	c.(1075-1077)GTC>ATC	p.V359I	GNA12_uc011jwb.1_Missense_Mutation_p.V342I|GNA12_uc003smt.2_Missense_Mutation_p.V300I	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	359					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2951840	2951840	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2951840A>T	uc003smv.2	-	23	3514	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1037	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)				Mis		DLBCL								---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4116654	4116654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4116654A>G	uc003smx.2	+	21	3174	c.3035A>G	c.(3034-3036)TAC>TGC	p.Y1012C	SDK1_uc010kso.2_Missense_Mutation_p.Y288C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1012	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Y1012Y(1)		large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4277380	4277380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4277380C>T	uc003smx.2	+	42	6233	c.6094C>T	c.(6094-6096)CAC>TAC	p.H2032Y	SDK1_uc010kso.2_Missense_Mutation_p.H1288Y|SDK1_uc003smy.2_Missense_Mutation_p.H519Y|SDK1_uc003smz.2_Missense_Mutation_p.H92Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2032	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4780606	4780606	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4780606A>G	uc003snc.1	+	2	708	c.698A>G	c.(697-699)GAC>GGC	p.D233G	FOXK1_uc003sna.1_Missense_Mutation_p.D70G|FOXK1_uc003snb.1_Missense_Mutation_p.D233G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	233					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)														---	---	---	---
KIAA0415	9907	broad.mit.edu	37	7	4825911	4825911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4825911T>A	uc003sne.2	+	10	1246	c.1163T>A	c.(1162-1164)GTC>GAC	p.V388D	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	388					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)														---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901085	4901085	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4901085G>A	uc003snk.2	-	1	541	c.357C>T	c.(355-357)TGC>TGT	p.C119C	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	118					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4965157	4965157	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4965157C>T	uc003sno.3	-	2	250	c.54G>A	c.(52-54)ATG>ATA	p.M18I	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.M18I|MMD2_uc010ksq.2_Missense_Mutation_p.M18I	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	18	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)														---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104918	5104918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5104918A>G	uc010kss.1	+	6	2155	c.1831A>G	c.(1831-1833)ACT>GCT	p.T611A	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.T611A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	611	C2H2-type 13.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5232779	5232779	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5232779T>A	uc003snv.2	+	2	321	c.105T>A	c.(103-105)GGT>GGA	p.G35G	WIPI2_uc003snw.2_Silent_p.G35G|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	35					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5265492	5265492	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5265492G>A	uc003snv.2	+	9	995	c.779G>A	c.(778-780)GGC>GAC	p.G260D	WIPI2_uc003snw.2_Missense_Mutation_p.G260D|WIPI2_uc003snx.2_Missense_Mutation_p.G242D|WIPI2_uc003sny.2_Missense_Mutation_p.G242D|WIPI2_uc010ksv.2_Missense_Mutation_p.G116D|WIPI2_uc003soa.2_Missense_Mutation_p.G201D|WIPI2_uc003sob.2_Missense_Mutation_p.G3D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	260	WD 2.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352438	5352438	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5352438G>A	uc003soi.3	-	27	8433	c.8084C>T	c.(8083-8085)GCG>GTG	p.A2695V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2695							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5427427	5427427	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5427427T>A	uc003soi.3	-	5	2377	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	TNRC18_uc010ksx.1_Missense_Mutation_p.E602D	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	676							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6017399	6017399	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6017399A>G	uc003spl.2	-						PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526			PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6064312	6064312	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6064312C>T	uc003spp.2	-	15	2031	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	EIF2AK1_uc003spq.2_Missense_Mutation_p.V628M|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	629					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)														---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476083	7476083	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476083T>C	uc003src.1	-	23	1920	c.1803A>G	c.(1801-1803)GGA>GGG	p.G601G	COL28A1_uc011jxe.1_Silent_p.G284G|COL28A1_uc003srd.2_Silent_p.G156G|COL28A1_uc003sre.1_Silent_p.G22G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	601					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7625282A>G	uc003srf.2	+	7	1972	c.1664A>G	c.(1663-1665)AAT>AGT	p.N555S	MIOS_uc003srg.2_Missense_Mutation_p.N90S|MIOS_uc010ktq.2_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	555											0																		---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7636009	7636009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7636009C>T	uc003srf.2	+	11	2626	c.2318C>T	c.(2317-2319)ACA>ATA	p.T773I	MIOS_uc003srg.2_Missense_Mutation_p.T308I|MIOS_uc010ktq.2_Missense_Mutation_p.T168I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	773											0																		---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8272362	8272362	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8272362T>A	uc003srm.2	-	3	108	c.41A>T	c.(40-42)GAT>GTT	p.D14V	ICA1_uc010ktr.2_Missense_Mutation_p.D14V|ICA1_uc003srl.2_Missense_Mutation_p.D2V|ICA1_uc003srn.3_5'UTR|ICA1_uc003srp.3_Missense_Mutation_p.D13V|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.D14V|ICA1_uc003srr.2_Missense_Mutation_p.D13V|ICA1_uc003sro.3_Missense_Mutation_p.D14V|ICA1_uc011jxg.1_Missense_Mutation_p.D14V|ICA1_uc003srs.1_Missense_Mutation_p.D14V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	14					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10977710	10977710	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10977710A>G	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10979632	10979632	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10979632C>T	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11101630	11101630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11101630T>C	uc003sry.1	+	16	3007	c.2572T>C	c.(2572-2574)TTG>CTG	p.L858L	PHF14_uc011jxi.1_Silent_p.L573L|PHF14_uc003srz.2_Silent_p.L858L|PHF14_uc011jxj.1_Silent_p.L573L	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	858							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)														---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11422208	11422208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11422208C>A	uc003ssf.3	-	23	4699	c.4447G>T	c.(4447-4449)GCT>TCT	p.A1483S	uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1483	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676020	11676020	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11676020G>T	uc003ssf.3	-	2	1011	c.759C>A	c.(757-759)TAC>TAA	p.Y253*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	253	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12270750	12270750	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12270750A>G	uc011jxk.1	+						TMEM106B_uc003ssh.2_Intron	NM_018374	NP_060844			transmembrane protein 106B							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12271530	12271530	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12271530G>A	uc011jxk.1	+	9	1154	c.754G>A	c.(754-756)GAC>AAC	p.D252N	TMEM106B_uc003ssh.2_Missense_Mutation_p.D252N	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	252						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14724957	14724957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:14724957G>A	uc003ssz.2	-	9	929	c.742C>T	c.(742-744)CGA>TGA	p.R248*	DGKB_uc011jxt.1_Nonsense_Mutation_p.R241*|DGKB_uc003sta.2_Nonsense_Mutation_p.R248*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R248*|DGKB_uc011jxv.1_Nonsense_Mutation_p.R248*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	248	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)													---	---	---	---
SOSTDC1	25928	broad.mit.edu	37	7	16505200	16505200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16505200G>T	uc003stg.2	-	1	275	c.94C>A	c.(94-96)CTT>ATT	p.L32I	SOSTDC1_uc003sth.2_Missense_Mutation_p.L32I	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	32					Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)														---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20180770	20180770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20180770T>A	uc003sus.3	-	7	2667	c.2358A>T	c.(2356-2358)AAA>AAT	p.K786N	MACC1_uc010kug.2_Missense_Mutation_p.K786N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	786					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20199707	20199707	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20199707T>A	uc003sus.3	-	5	586	c.277A>T	c.(277-279)ATT>TTT	p.I93F	MACC1_uc010kug.2_Missense_Mutation_p.I93F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	93					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20449319	20449319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20449319T>C	uc003suu.2	+	13	2810	c.2105T>C	c.(2104-2106)CTG>CCG	p.L702P	ITGB8_uc011jyh.1_Missense_Mutation_p.L567P	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	702	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20666232	20666232	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20666232A>T	uc010kuh.2	+	3	343	c.106A>T	c.(106-108)ATA>TTA	p.I36L		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	689	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20778637	20778637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21603998	21603998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21603998A>T	uc003svc.2	+	6	1208	c.1177A>T	c.(1177-1179)AAT>TAT	p.N393Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	393	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21906122	21906122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21906122A>T	uc003svc.2	+	72	11583	c.11552A>T	c.(11551-11553)GAC>GTC	p.D3851V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3851					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21923982	21923982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21923982G>A	uc003svc.2	+	77	12513	c.12482G>A	c.(12481-12483)CGC>CAC	p.R4161H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4161					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23164720	23164720	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23164720A>G	uc003svs.3	+	4	664	c.371A>G	c.(370-372)TAT>TGT	p.Y124C	KLHL7_uc003svr.3_Missense_Mutation_p.Y102C|KLHL7_uc011jys.1_Missense_Mutation_p.Y48C|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Y76C|KLHL7_uc003svp.2_Missense_Mutation_p.Y102C|KLHL7_uc003svq.2_Missense_Mutation_p.Y124C|KLHL7_uc011jyu.1_Missense_Mutation_p.Y102C	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	124						Golgi apparatus|nucleolus|plasma membrane					0																		---	---	---	---
C7orf46	340277	broad.mit.edu	37	7	23724154	23724154	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23724154T>A	uc003swo.3	+	2	191	c.102T>A	c.(100-102)ACT>ACA	p.T34T	C7orf46_uc003swq.3_Silent_p.T34T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	34											0																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23751728	23751728	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23751728A>T	uc003sws.3	+	2	128	c.61A>T	c.(61-63)ATT>TTT	p.I21F	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Missense_Mutation_p.I21F|STK31_uc010kuq.2_5'UTR	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	21							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23776518	23776518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23776518T>C	uc003sws.3	+						STK31_uc003swt.3_Intron|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Intron	NM_031414	NP_113602			serine/threonine kinase 31 isoform a								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23809300	23809300	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23809300C>T	uc003sws.3	+	13	1705	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D	STK31_uc003swt.3_Silent_p.D523D|STK31_uc011jze.1_Silent_p.D546D|STK31_uc010kuq.2_Silent_p.D523D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	546							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26724393	26724393	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26724393A>C	uc003syc.2	-	11	1242	c.949T>G	c.(949-951)TCA>GCA	p.S317A	SKAP2_uc011jzi.1_Missense_Mutation_p.S145A|SKAP2_uc011jzj.1_Missense_Mutation_p.S302A	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	317	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27141056	27141056	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27141056G>A	uc003syh.2	-	2	695	c.420C>T	c.(418-420)GGC>GGT	p.G140G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	140						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27147767	27147767	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27147767C>T	uc011jzl.1	-	3	1299	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	HOXA3_uc011jzk.1_Missense_Mutation_p.V209M|HOXA3_uc003syk.2_Missense_Mutation_p.V367M	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27149900	27149900	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27149900C>T	uc011jzl.1	-	2	560	c.360G>A	c.(358-360)CCG>CCA	p.P120P	HOXA3_uc011jzk.1_Splice_Site|HOXA3_uc003syk.2_Silent_p.P120P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27150214	27150214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27150214A>G	uc011jzl.1	-	2	246	c.46T>C	c.(46-48)TAC>CAC	p.Y16H	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.Y16H	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	16					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29111986	29111986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29111986G>A	uc003szv.2	-	8	782	c.663C>T	c.(661-663)AAC>AAT	p.N221N	CPVL_uc003szw.2_Silent_p.N221N|CPVL_uc003szx.2_Silent_p.N221N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	221					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29160521	29160521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29160521T>C	uc003szv.2	-	2	276	c.157A>G	c.(157-159)AAG>GAG	p.K53E	CPVL_uc003szw.2_Missense_Mutation_p.K53E|CPVL_uc003szx.2_Missense_Mutation_p.K53E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	53					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29552310	29552310	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29552310A>G	uc003szz.2	+	13	1803	c.1366A>G	c.(1366-1368)ATT>GTT	p.I456V	CHN2_uc011jzs.1_Missense_Mutation_p.I531V|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.I421V|CHN2_uc011jzt.1_Missense_Mutation_p.I469V|CHN2_uc010kvd.2_Missense_Mutation_p.I312V|CHN2_uc011jzu.1_Missense_Mutation_p.I441V|CHN2_uc010kvg.2_Missense_Mutation_p.I274V|CHN2_uc010kvh.2_Missense_Mutation_p.I216V|CHN2_uc010kvi.2_Missense_Mutation_p.I248V|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.I320V|CHN2_uc010kvf.2_Missense_Mutation_p.I262V|CHN2_uc010kvj.2_Missense_Mutation_p.I229V|CHN2_uc010kvk.2_Missense_Mutation_p.I131V|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.I275V|CHN2_uc011jzv.1_Missense_Mutation_p.I249V	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	456	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2																		---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30094922	30094922	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30094922T>A	uc003tam.1	+	9	1094	c.1003T>A	c.(1003-1005)TTC>ATC	p.F335I	PLEKHA8_uc003tao.2_Missense_Mutation_p.F219I|PLEKHA8_uc003tap.1_Missense_Mutation_p.F335I|PLEKHA8_uc003tan.2_Missense_Mutation_p.F335I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	335					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30490868	30490868	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30490868T>C	uc003tav.2	-	6	2688	c.2165A>G	c.(2164-2166)GAG>GGG	p.E722G		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	722	LRR 2.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491688	30491688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30491688G>A	uc003tav.2	-	6	1868	c.1345C>T	c.(1345-1347)CCA>TCA	p.P449S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	449	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
GARS	2617	broad.mit.edu	37	7	30661016	30661016	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30661016T>A	uc003tbm.2	+	11	1724	c.1367T>A	c.(1366-1368)ATT>AAT	p.I456N		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	456					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30693176	30693176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30693176T>C	uc003tbn.2	-	12	1380	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.D378G|CRHR2_uc010kvy.1_Missense_Mutation_p.D215G|CRHR2_uc003tbo.2_Missense_Mutation_p.D365G|CRHR2_uc003tbp.2_Missense_Mutation_p.D406G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	379	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31014631	31014631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31014631A>G	uc003tbx.2	+	9	906	c.858A>G	c.(856-858)AAA>AAG	p.K286K	GHRHR_uc003tbw.1_Silent_p.K286K|GHRHR_uc003tby.2_Silent_p.K222K|GHRHR_uc003tbz.2_Missense_Mutation_p.R53G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	286	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31102904	31102904	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31102904C>T	uc003tca.1	+	2	247	c.24C>T	c.(22-24)TCC>TCT	p.S8S	ADCYAP1R1_uc003tcb.1_Silent_p.S8S|ADCYAP1R1_uc003tcc.1_Silent_p.S8S|ADCYAP1R1_uc003tcd.1_Silent_p.S8S|ADCYAP1R1_uc003tce.1_Silent_p.S8S	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	8					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31683452	31683452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31683452G>A	uc003tcj.1	+	11	3461	c.2468G>A	c.(2467-2469)GGC>GAC	p.G823D	CCDC129_uc011kad.1_Missense_Mutation_p.G833D|CCDC129_uc003tci.1_Missense_Mutation_p.G674D|CCDC129_uc011kae.1_Missense_Mutation_p.G849D|CCDC129_uc003tck.1_Missense_Mutation_p.G731D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	823	Cys-rich.										0																		---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909594	32909594	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32909594A>G	uc003tdb.2	-	4	1894	c.1235T>C	c.(1234-1236)GTA>GCA	p.V412A	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	412	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)															---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33042307	33042307	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33042307T>C	uc003tdh.2	+	9	1573	c.1392T>C	c.(1390-1392)AGT>AGC	p.S464S	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.S517S|FKBP9_uc011kam.1_Silent_p.S232S	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	464	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)															---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33303972	33303972	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33303972G>T	uc003tdn.1	+	7	1201	c.688G>T	c.(688-690)GGA>TGA	p.G230*	BBS9_uc003tdo.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdp.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdq.1_Nonsense_Mutation_p.G230*|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Nonsense_Mutation_p.G230*|BBS9_uc011kao.1_Nonsense_Mutation_p.G108*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	230					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33573721	33573721	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33573721A>T	uc003tdn.1	+	21	2967	c.2454A>T	c.(2452-2454)AGA>AGT	p.R818S	BBS9_uc003tdo.1_Missense_Mutation_p.R783S|BBS9_uc003tdp.1_Missense_Mutation_p.R813S|BBS9_uc003tdq.1_Missense_Mutation_p.R778S|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R342S|BBS9_uc003tds.1_Missense_Mutation_p.R241S|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	818					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
EEPD1	80820	broad.mit.edu	37	7	36194118	36194118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36194118G>A	uc003tfa.2	+	2	825	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	62	HhH.				DNA repair		DNA binding				0																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	36934620	36934620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36934620T>C	uc003tfk.1	-	17	1747	c.1440A>G	c.(1438-1440)GTA>GTG	p.V480V	ELMO1_uc003tfi.1_5'UTR|ELMO1_uc003tfj.1_5'UTR|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.V384V|ELMO1_uc010kxg.1_Silent_p.V480V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	480	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37172811G>A	uc003tfk.1	-	14	1422	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37251126	37251126	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37251126A>T	uc003tfk.1	-						ELMO1_uc011kbc.1_Intron|ELMO1_uc010kxg.1_Intron	NM_014800	NP_055615			engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37311473	37311473	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37311473T>C	uc003tfk.1	-	5	514	c.207A>G	c.(205-207)ATA>ATG	p.I69M	ELMO1_uc011kbc.1_Translation_Start_Site|ELMO1_uc010kxg.1_Missense_Mutation_p.I69M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
TXNDC3	51314	broad.mit.edu	37	7	37907455	37907455	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37907455T>C	uc003tfn.2	+	11	1145	c.773T>C	c.(772-774)GTC>GCC	p.V258A		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3														Kartagener_syndrome				---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37960798	37960798	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37960798T>A	uc003tfp.2	+	1	636	c.617T>A	c.(616-618)ATC>AAC	p.I206N	EPDR1_uc003tfq.2_Missense_Mutation_p.I206N|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	86					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
STARD3NL	83930	broad.mit.edu	37	7	38247245	38247245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38247245G>A	uc003tfr.2	+	2	288	c.140G>A	c.(139-141)GGC>GAC	p.G47D	STARD3NL_uc003tfs.2_Missense_Mutation_p.G47D|STARD3NL_uc003tft.2_Missense_Mutation_p.G47D	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	47	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1																		---	---	---	---
AMPH	273	broad.mit.edu	37	7	38502674	38502674	+	Silent	SNP	C	T	T	rs148695925		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134332	40134332	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134332A>T	uc003thh.3	+	14	4574	c.4292A>T	c.(4291-4293)CAT>CTT	p.H1431L	CDK13_uc003thi.3_Missense_Mutation_p.H1371L|CDK13_uc003thj.2_Missense_Mutation_p.H482L|CDK13_uc003thk.2_Missense_Mutation_p.H364L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1431					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134336	40134336	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134336T>C	uc003thh.3	+	14	4578	c.4296T>C	c.(4294-4296)GGT>GGC	p.G1432G	CDK13_uc003thi.3_Silent_p.G1372G|CDK13_uc003thj.2_Silent_p.G483G|CDK13_uc003thk.2_Silent_p.G365G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1432					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134465	40134465	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134465C>T	uc003thh.3	+	14	4707	c.4425C>T	c.(4423-4425)CTC>CTT	p.L1475L	CDK13_uc003thi.3_Silent_p.L1415L|CDK13_uc003thj.2_Silent_p.L526L|CDK13_uc003thk.2_Silent_p.L408L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1475					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
C7orf10	79783	broad.mit.edu	37	7	40314127	40314127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40314127C>T	uc003thn.1	+	8	637	c.592C>T	c.(592-594)CGC>TGC	p.R198C	C7orf10_uc003thm.1_Missense_Mutation_p.R168C|C7orf10_uc003tho.1_Intron	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	205							transferase activity			ovary(2)	2																		---	---	---	---
STK17A	9263	broad.mit.edu	37	7	43647896	43647896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43647896G>A	uc003tih.2	+	3	612	c.461G>A	c.(460-462)AGA>AAA	p.R154K		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	154	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2																		---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43830895	43830895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43830895A>G	uc003tir.2	+	4	265	c.182A>G	c.(181-183)GAT>GGT	p.D61G	BLVRA_uc010kxv.2_Missense_Mutation_p.D61G	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	61					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43846580	43846580	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43846580C>T	uc003tir.2	+	8	720	c.637C>T	c.(637-639)CTG>TTG	p.L213L	BLVRA_uc010kxv.2_Silent_p.L213L	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	213					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43916390	43916390	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43916390A>G	uc003tiw.2	-	6	2729	c.2672T>C	c.(2671-2673)GTG>GCG	p.V891A	URGCP_uc003tiu.2_Missense_Mutation_p.V848A|URGCP_uc003tiv.2_Missense_Mutation_p.V816A|URGCP_uc003tix.2_Missense_Mutation_p.V882A|URGCP_uc003tiy.2_Missense_Mutation_p.V848A|URGCP_uc003tiz.2_Missense_Mutation_p.V848A|URGCP_uc011kbj.1_Missense_Mutation_p.V848A	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	891					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917311	43917311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43917311T>C	uc003tiw.2	-	6	1808	c.1751A>G	c.(1750-1752)CAG>CGG	p.Q584R	URGCP_uc003tiu.2_Missense_Mutation_p.Q541R|URGCP_uc003tiv.2_Missense_Mutation_p.Q509R|URGCP_uc003tix.2_Missense_Mutation_p.Q575R|URGCP_uc003tiy.2_Missense_Mutation_p.Q541R|URGCP_uc003tiz.2_Missense_Mutation_p.Q541R|URGCP_uc011kbj.1_Missense_Mutation_p.Q541R	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	584					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
POLM	27434	broad.mit.edu	37	7	44116212	44116212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44116212A>G	uc003tjt.2	-	6	823	c.731T>C	c.(730-732)TTC>TCC	p.F244S	POLM_uc003tjw.1_5'UTR|POLM_uc003tju.2_Missense_Mutation_p.F244S|POLM_uc003tjx.2_Intron|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_RNA|POLM_uc003tjz.3_Missense_Mutation_p.S239P	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	244					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3													DNA_polymerases_(catalytic_subunits)					---	---	---	---
MYL7	58498	broad.mit.edu	37	7	44178596	44178596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44178596G>A	uc003tkg.2	-	7	464	c.452C>T	c.(451-453)CCC>CTC	p.P151L		NM_021223	NP_067046	Q01449	MLRA_HUMAN	myosin light chain 2a	151	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity				0																		---	---	---	---
YKT6	10652	broad.mit.edu	37	7	44246004	44246004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44246004G>A	uc003tkm.2	+	3	365	c.208G>A	c.(208-210)GTC>ATC	p.V70I	YKT6_uc011kbv.1_Missense_Mutation_p.V70I	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	70	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0																		---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44882918	44882918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44882918G>A	uc003tma.2	-	2	194	c.39C>T	c.(37-39)GCC>GCT	p.A13A	H2AFV_uc003tlz.2_Silent_p.A13A|H2AFV_uc003tmb.2_Silent_p.A13A|H2AFV_uc003tmc.2_Silent_p.A13A|H2AFV_uc003tmd.2_Intron	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	13					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
TBRG4	9238	broad.mit.edu	37	7	45142067	45142067	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45142067C>A	uc003tmv.2	-	7	1326	c.1200G>T	c.(1198-1200)GAG>GAT	p.E400D	TBRG4_uc003tmu.2_Missense_Mutation_p.E225D|TBRG4_uc003tmw.2_Missense_Mutation_p.E290D|TBRG4_uc003tmx.2_Missense_Mutation_p.E290D|TBRG4_uc011kcd.1_Missense_Mutation_p.E411D	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	400					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0																		---	---	---	---
RAMP3	10268	broad.mit.edu	37	7	45216982	45216982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45216982G>A	uc003tnb.2	+	2	194	c.133G>A	c.(133-135)GCA>ACA	p.A45T	RAMP3_uc003tnc.2_Missense_Mutation_p.A13T	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	45	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717627	45717627	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717627A>G	uc003tne.3	+	9	1783	c.1765A>G	c.(1765-1767)ACC>GCC	p.T589A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	589	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717666	45717666	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717666A>G	uc003tne.3	+							NM_021116	NP_066939			adenylate cyclase 1						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45743052	45743052	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45743052C>T	uc003tne.3	+	15	2550	c.2532C>T	c.(2530-2532)CAC>CAT	p.H844H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	844	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750165	45750165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750165G>A	uc003tne.3	+	19	2989	c.2971G>A	c.(2971-2973)GCT>ACT	p.A991T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	991	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750202	45750202	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750202T>C	uc003tne.3	+	19	3026	c.3008T>C	c.(3007-3009)GTC>GCC	p.V1003A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1003	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
IGFBP3	3486	broad.mit.edu	37	7	45957003	45957003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45957003C>T	uc003tns.2	-	2	571	c.439G>A	c.(439-441)GGC>AGC	p.G147S	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.G153S|IGFBP3_uc003tnt.2_Missense_Mutation_p.G50S	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408173	47408173	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408173C>T	uc003tnv.2	-	17	2437	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S	TNS3_uc003tnw.2_Silent_p.S690S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	690						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408194	47408194	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408194G>A	uc003tnv.2	-	17	2416	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	TNS3_uc003tnw.2_Silent_p.S683S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	683						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47453571	47453571	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47453571T>C	uc003tnv.2	-	12	978	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TNS3_uc003tnw.2_Missense_Mutation_p.Y204C|TNS3_uc010kyo.1_Missense_Mutation_p.Y204C	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	204	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47869198	47869198	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47869198A>G	uc003tny.1	-	44	6560	c.6560T>C	c.(6559-6561)GTA>GCA	p.V2187A	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2187	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47894797	47894797	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47894797G>A	uc003tny.1	-	29	4657	c.4657C>T	c.(4657-4659)CTA>TTA	p.L1553L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1553	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47897384	47897384	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47897384C>T	uc003tny.1	-	28	4409	c.4409G>A	c.(4408-4410)CGG>CAG	p.R1470Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1470	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47906161	47906161	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47906161G>A	uc003tny.1	-	25	3948	c.3948C>T	c.(3946-3948)TAC>TAT	p.Y1316Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1316	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48026922	48026922	+	3'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48026922C>A	uc003tof.2	-	11					SUN3_uc010kyq.2_3'UTR|SUN3_uc003tog.2_3'UTR|SUN3_uc011kcf.1_3'UTR	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48269449	48269449	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48269449T>C	uc003toq.2	+	7	685	c.660T>C	c.(658-660)GAT>GAC	p.D220D	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	220					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315257	48315257	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315257T>C	uc003toq.2	+	17	6019	c.5994T>C	c.(5992-5994)ATT>ATC	p.I1998I	ABCA13_uc010kyr.2_Silent_p.I1501I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1998					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315591	48315591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315591T>C	uc003toq.2	+	17	6353	c.6328T>C	c.(6328-6330)TCA>CCA	p.S2110P	ABCA13_uc010kyr.2_Missense_Mutation_p.S1613P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2110					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318231	48318231	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318231T>C	uc003toq.2	+	18	7465	c.7440T>C	c.(7438-7440)GGT>GGC	p.G2480G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2480					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318639	48318639	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318639T>C	uc003toq.2	+	18	7873	c.7848T>C	c.(7846-7848)AGT>AGC	p.S2616S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2616					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48337993	48337993	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48337993T>C	uc003toq.2	+	23	9255	c.9230T>C	c.(9229-9231)ATC>ACC	p.I3077T	ABCA13_uc010kys.1_Missense_Mutation_p.I151T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3077					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
VWC2	375567	broad.mit.edu	37	7	49951753	49951753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:49951753G>A	uc003tot.1	+	4	1506	c.950G>A	c.(949-951)TGC>TAC	p.C317Y		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	317					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0																		---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513108	50513108	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513108A>G	uc003tpc.2	-	4	2255	c.1878T>C	c.(1876-1878)GCT>GCC	p.A626A	FIGNL1_uc003tpb.2_Silent_p.A515A|FIGNL1_uc003tpd.2_Silent_p.A626A|FIGNL1_uc003tpe.2_Silent_p.A626A|FIGNL1_uc010kyy.2_Silent_p.A626A	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	626					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513894	50513894	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513894T>A	uc003tpc.2	-	4	1469	c.1092A>T	c.(1090-1092)GGA>GGT	p.G364G	FIGNL1_uc003tpb.2_Silent_p.G253G|FIGNL1_uc003tpd.2_Silent_p.G364G|FIGNL1_uc003tpe.2_Silent_p.G364G|FIGNL1_uc010kyy.2_Silent_p.G364G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	364					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
DDC	1644	broad.mit.edu	37	7	50535009	50535009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50535009A>G	uc003tpf.3	-	13	1231	c.1145T>C	c.(1144-1146)GTC>GCC	p.V382A	DDC_uc010kza.2_Missense_Mutation_p.V297A|DDC_uc003tpg.3_Missense_Mutation_p.V382A	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	382					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)													---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096557	51096557	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096557C>A	uc003tpr.3	-	10	2421	c.2236G>T	c.(2236-2238)GGC>TGC	p.G746C	COBL_uc003tps.2_Missense_Mutation_p.G803C|COBL_uc011kcl.1_Missense_Mutation_p.G746C|COBL_uc003tpp.3_Missense_Mutation_p.G532C|COBL_uc003tpq.3_Missense_Mutation_p.G687C|COBL_uc003tpo.3_Missense_Mutation_p.G288C	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	746										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096763	51096763	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096763T>A	uc003tpr.3	-	10	2215	c.2030A>T	c.(2029-2031)AAC>ATC	p.N677I	COBL_uc003tps.2_Missense_Mutation_p.N734I|COBL_uc011kcl.1_Missense_Mutation_p.N677I|COBL_uc003tpp.3_Missense_Mutation_p.N463I|COBL_uc003tpq.3_Missense_Mutation_p.N618I|COBL_uc003tpo.3_Missense_Mutation_p.N219I	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	677										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55229200	55229200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55229200G>T	uc003tqk.2	+	13	1753	c.1507G>T	c.(1507-1509)GGC>TGC	p.G503C	EGFR_uc003tqi.2_Missense_Mutation_p.G503C|EGFR_uc003tqj.2_Missense_Mutation_p.G503C|EGFR_uc010kzg.1_Missense_Mutation_p.G458C|EGFR_uc011kco.1_Missense_Mutation_p.G450C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	503	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55496101	55496101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55496101G>A	uc003tqp.2	+	8	1797	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	407					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)															---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56129476	56129476	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56129476A>T	uc003trl.1	+	12	1548	c.1384A>T	c.(1384-1386)ACA>TCA	p.T462S	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.T417S|CCT6A_uc011kcu.1_Missense_Mutation_p.T431S|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	462					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56132072	56132072	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56132072G>A	uc003trv.2	+	1	155	c.124_splice	c.e1+1	p.G42_splice	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Splice_Site_p.G42_splice|SUMF2_uc011kcv.1_Splice_Site|SUMF2_uc011kcw.1_Splice_Site_p.G42_splice|SUMF2_uc011kcx.1_Splice_Site_p.G42_splice|SUMF2_uc003trt.2_Splice_Site|SUMF2_uc011kcy.1_Splice_Site_p.G42_splice|SUMF2_uc011kcz.1_Splice_Site_p.G42_splice|SUMF2_uc003tru.2_Splice_Site|SUMF2_uc011kda.1_Splice_Site|SUMF2_uc003trx.2_Splice_Site	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56146161	56146161	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56146161G>A	uc003trv.2	+						PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.A280T|SUMF2_uc011kcx.1_Missense_Mutation_p.A211T|SUMF2_uc003trt.2_Missense_Mutation_p.A173T|SUMF2_uc011kcy.1_Missense_Mutation_p.A265T|SUMF2_uc011kcz.1_Missense_Mutation_p.A196T|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Silent_p.Q44Q|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
ZNF680	340252	broad.mit.edu	37	7	63982663	63982663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63982663C>T	uc003tta.2	-	4	642	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ZNF680_uc010kzr.2_Missense_Mutation_p.D84N	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)																---	---	---	---
ZNF138	7697	broad.mit.edu	37	7	64291846	64291846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64291846G>A	uc011kdp.1	+	5	539	c.363G>A	c.(361-363)TTG>TTA	p.L121L	ZNF138_uc003ttg.2_Missense_Mutation_p.A19T|ZNF138_uc011kdq.1_Missense_Mutation_p.A50T|ZNF138_uc003tth.2_RNA|ZNF138_uc010kzs.2_Missense_Mutation_p.A44T	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	121					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)																---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64377979	64377979	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64377979T>C	uc003tto.2	+	2	199	c.123T>C	c.(121-123)GAT>GAC	p.D41D	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64438701	64438701	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64438701G>A	uc003ttr.2	-	4	2533	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65440067	65440067	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65440067G>A	uc003tun.2	-						GUSB_uc011kdt.1_Intron	NM_000181	NP_000172			glucuronidase, beta precursor						glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65599349	65599349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65599349A>G	uc003tus.2	+	4	372	c.227A>G	c.(226-228)CAC>CGC	p.H76R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.H69R|CRCP_uc003tut.2_Missense_Mutation_p.H43R|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	76					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0																		---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65705699	65705699	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65705699G>A	uc003tuw.2	+	2	639	c.287G>A	c.(286-288)CGC>CAC	p.R96H	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.R96H|TPST1_uc010laa.2_Missense_Mutation_p.R96H	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	96	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0																		---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66236966	66236966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66236966G>T	uc011kee.1	+	2	286	c.122G>T	c.(121-123)GGC>GTC	p.G41V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvh.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	165	Interaction with ubiquitinated proteins.|A20-type.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70246639	70246639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70246639A>G	uc003tvw.3	+	15	2786	c.2043A>G	c.(2041-2043)GGA>GGG	p.G681G	AUTS2_uc003tvx.3_Silent_p.G657G|AUTS2_uc011keg.1_Silent_p.G133G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	681										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255176	70255176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70255176C>T	uc003tvw.3	+	19	3717	c.2974C>T	c.(2974-2976)CTG>TTG	p.L992L	AUTS2_uc003tvx.3_Silent_p.L968L|AUTS2_uc011keg.1_Silent_p.L444L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	992										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70880917	70880917	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70880917A>G	uc003tvy.2	+	4	632	c.632A>G	c.(631-633)TAC>TGC	p.Y211C	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	211	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71135084	71135084	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:71135084C>T	uc003tvy.2	+	8	1394	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A164V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	465	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
STAG3L3	442578	broad.mit.edu	37	7	72470007	72470007	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72470007T>A	uc003txd.3	-	6	850	c.334A>T	c.(334-336)ATA>TTA	p.I112L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	112						nucleus	binding				0		Lung NSC(55;0.197)																---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72880734	72880734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72880734A>G	uc003tyc.2	-							NM_032408	NP_115784			bromodomain adjacent to zinc finger domain, 1B						ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73010717	73010717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73010717G>A	uc003tyn.1	-	12	1963	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	MLXIPL_uc003tyj.1_Missense_Mutation_p.R20W|MLXIPL_uc003tyk.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R639W|MLXIPL_uc003tym.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R545W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	639					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
ABHD11	83451	broad.mit.edu	37	7	73153044	73153044	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73153044G>A	uc003tzb.2	-	1	141	c.84C>T	c.(82-84)GGC>GGT	p.G28G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G28G|ABHD11_uc003tzc.2_Silent_p.G28G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G28G|ABHD11_uc011kfc.1_Silent_p.G28G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	28							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73245601	73245601	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73245601T>C	uc003tzi.3	+	1	409	c.70T>C	c.(70-72)TGC>CGC	p.C24R	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	24	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73246012	73246012	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73246012G>T	uc003tzi.3	+	1	820	c.481G>T	c.(481-483)GGT>TGT	p.G161C	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	161	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462858	73462858	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462858A>G	uc003tzw.2	+	15	862	c.771A>G	c.(769-771)GCA>GCG	p.A257A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Splice_Site|ELN_uc011kfe.1_Silent_p.A226A|ELN_uc003tzn.2_Silent_p.A257A|ELN_uc003tzz.2_Silent_p.A221A|ELN_uc003tzo.2_Silent_p.A243A|ELN_uc003tzp.2_Silent_p.A213A|ELN_uc003tzq.2_Silent_p.A140A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A257A|ELN_uc003tzt.2_Silent_p.A262A|ELN_uc003tzu.2_Silent_p.A262A|ELN_uc003tzv.2_Silent_p.A247A|ELN_uc003tzx.2_Silent_p.A247A|ELN_uc011kff.1_Silent_p.A257A|ELN_uc003tzy.2_Silent_p.A252A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462877	73462877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462877G>A	uc003tzw.2	+	15	881	c.790G>A	c.(790-792)GCA>ACA	p.A264T	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A233T|ELN_uc003tzn.2_Missense_Mutation_p.A264T|ELN_uc003tzz.2_Missense_Mutation_p.A228T|ELN_uc003tzo.2_Missense_Mutation_p.A250T|ELN_uc003tzp.2_Missense_Mutation_p.A220T|ELN_uc003tzq.2_Missense_Mutation_p.A147T|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A264T|ELN_uc003tzt.2_Missense_Mutation_p.A269T|ELN_uc003tzu.2_Missense_Mutation_p.A269T|ELN_uc003tzv.2_Missense_Mutation_p.A254T|ELN_uc003tzx.2_Missense_Mutation_p.A254T|ELN_uc011kff.1_Missense_Mutation_p.A264T|ELN_uc003tzy.2_Missense_Mutation_p.A259T	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	264	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73510954	73510954	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73510954G>A	uc003uaa.1	+	3	320	c.155G>A	c.(154-156)TGT>TAT	p.C52Y	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.C18Y|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	52	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)																---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73604186	73604186	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73604186C>A	uc003uad.1	+	4	355	c.347C>A	c.(346-348)GCA>GAA	p.A116E	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.A116E|EIF4H_uc010lbm.2_Missense_Mutation_p.A116E|EIF4H_uc003uae.1_Missense_Mutation_p.A116E|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	116	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73664117	73664117	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73664117C>T	uc003uaj.2	-						RFC2_uc011kfa.1_Intron|RFC2_uc003uak.2_Intron|RFC2_uc010lbp.2_Intron|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73666758	73666758	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73666758C>T	uc003uaj.2	-	2	208	c.183_splice	c.e2+1	p.E61_splice	RFC2_uc011kfa.1_Splice_Site|RFC2_uc003uak.2_Splice_Site_p.E61_splice|RFC2_uc010lbp.2_Splice_Site_p.E24_splice|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731916	73731916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73731916G>A	uc003uam.2	+	2	367	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CLIP2_uc003uan.2_Missense_Mutation_p.G14R	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				skin(3)	3																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953006	73953006	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953006G>A	uc003uaq.2	+						GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron	NM_016328	NP_057412			GTF2I repeat domain containing 1 isoform 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953039	73953039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953039C>T	uc003uaq.2	+	13	1870	c.1477C>T	c.(1477-1479)CCG>TCG	p.P493S	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P525S|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P493S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P493S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	493						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75068445	75068445	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75068445T>C	uc010lde.1	-	4	1011	c.1011A>G	c.(1009-1011)GGA>GGG	p.G337G	POM121C_uc003udk.3_Silent_p.G95G			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	337	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0																		---	---	---	---
RHBDD2	57414	broad.mit.edu	37	7	75517387	75517387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75517387C>T	uc003udw.1	+	4	899	c.815C>T	c.(814-816)ACG>ATG	p.T272M	RHBDD2_uc003udv.1_Missense_Mutation_p.T131M	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	272						integral to membrane	serine-type endopeptidase activity				0																		---	---	---	---
POR	5447	broad.mit.edu	37	7	75614176	75614176	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75614176C>T	uc003udy.2	+	11	1230	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	POR_uc011kgc.1_Missense_Mutation_p.P191L|POR_uc011kgd.1_Missense_Mutation_p.P282L|POR_uc011kge.1_Missense_Mutation_p.P121L|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	380	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)													---	---	---	---
YWHAG	7532	broad.mit.edu	37	7	75959437	75959437	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75959437C>T	uc011kgj.1	-	2	418	c.201G>A	c.(199-201)GAG>GAA	p.E67E		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112470	76112470	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76112470G>A	uc003uff.3	+						DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron	NM_020892	NP_065943			deltex 2 isoform a						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76126704	76126704	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76126704C>T	uc003uff.3	+	7	1616	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	DTX2_uc011kgk.1_Missense_Mutation_p.R263C|DTX2_uc003ufg.3_Missense_Mutation_p.R354C|DTX2_uc003ufh.3_Missense_Mutation_p.R354C|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.R17C|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	354					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76825713	76825713	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76825713G>A	uc003ugb.2	-	2	1243	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	401	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76829058	76829058	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76829058C>A	uc003ugb.2	-	1	93	c.53G>T	c.(52-54)GGT>GTT	p.G18V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	18					signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77708270	77708270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77708270C>A	uc003ugx.2	-	21	3954	c.3700G>T	c.(3700-3702)GAA>TAA	p.E1234*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.E1220*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.E827*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1234				E -> Q (in Ref. 1; AAC05370).		cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77789472	77789472	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77789472G>T	uc003ugx.2	-	16	2969	c.2715C>A	c.(2713-2715)GCC>GCA	p.A905A	MAGI2_uc003ugy.2_Silent_p.A891A|MAGI2_uc010ldx.1_Silent_p.A498A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	905						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	79082520	79082520	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:79082520T>A	uc003ugx.2	-	1	371	c.117A>T	c.(115-117)GGA>GGT	p.G39G	MAGI2_uc003ugy.2_Silent_p.G39G|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	39	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
HGF	3082	broad.mit.edu	37	7	81374395	81374395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81374395T>C	uc003uhl.2	-	6	832	c.667A>G	c.(667-669)ATG>GTG	p.M223V	HGF_uc003uhm.2_Missense_Mutation_p.M218V|HGF_uc003uhn.1_Missense_Mutation_p.M223V|HGF_uc003uho.1_Missense_Mutation_p.M218V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	223	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	T	T	rs137853235		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81381566C>T	uc003uhl.2	-	5	660	c.495G>A	c.(493-495)TCG>TCA	p.S165S	HGF_uc003uhm.2_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.2_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579252	82579252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82579252T>C	uc003uhx.2	-	6	10941	c.10652A>G	c.(10651-10653)AAA>AGA	p.K3551R	PCLO_uc003uhv.2_Missense_Mutation_p.K3551R|PCLO_uc010lec.2_Missense_Mutation_p.K516R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583904	82583904	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82583904C>A	uc003uhx.2	-	5	6654	c.6365G>T	c.(6364-6366)AGT>ATT	p.S2122I	PCLO_uc003uhv.2_Missense_Mutation_p.S2122I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2053					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82763785	82763785	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82763785T>A	uc003uhx.2	-	3	3370	c.3081A>T	c.(3079-3081)CCA>CCT	p.P1027P	PCLO_uc003uhv.2_Silent_p.P1027P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	973	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784146	82784146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82784146T>C	uc003uhx.2	-	2	2100	c.1811A>G	c.(1810-1812)AAG>AGG	p.K604R	PCLO_uc003uhv.2_Missense_Mutation_p.K604R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	550	C4-type (Potential).|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84671486	84671486	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84671486C>T	uc003uic.2	-	8	1016	c.976_splice	c.e8+1	p.Q326_splice	SEMA3D_uc010led.2_Splice_Site_p.Q326_splice|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86541542	86541542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86541542C>T	uc011kha.1	-	15	2200	c.2015G>A	c.(2014-2016)AGT>AAT	p.S672N	KIAA1324L_uc003uif.1_Missense_Mutation_p.S432N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.S558N|KIAA1324L_uc003uie.2_Missense_Mutation_p.S505N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	672	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86802919	86802919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86802919A>G	uc003uih.2	+	6	722	c.396A>G	c.(394-396)CAA>CAG	p.Q132Q	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.Q44Q|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.Q132Q|DMTF1_uc003uim.1_Silent_p.Q132Q|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	132	Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86824348	86824348	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86824348T>A	uc003uih.2	+	18	2501	c.2175T>A	c.(2173-2175)GAT>GAA	p.D725E	DMTF1_uc003uii.2_Missense_Mutation_p.D459E|DMTF1_uc003uij.2_Missense_Mutation_p.D459E|DMTF1_uc011khb.1_Missense_Mutation_p.D637E|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.D725E|DMTF1_uc003uin.2_Missense_Mutation_p.D459E	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	725	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179871	87179871	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179871C>T	uc003uiz.1	-	12	1555	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	ABCB1_uc011khc.1_Silent_p.S315S	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	379	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87507464	87507464	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87507464G>A	uc003ujf.1	+	2	647	c.143G>A	c.(142-144)GGA>GAA	p.G48E	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	48	BRCT 1.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516180	87516180	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516180T>A	uc003ujf.1	+	4	925	c.421T>A	c.(421-423)TTA>ATA	p.L141I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	141					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87760680	87760680	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87760680A>G	uc003ujn.2	+	11	1001	c.922A>G	c.(922-924)ACC>GCC	p.T308A	ADAM22_uc003ujj.1_Missense_Mutation_p.T308A|ADAM22_uc003ujk.1_Missense_Mutation_p.T308A|ADAM22_uc003ujl.1_Missense_Mutation_p.T308A|ADAM22_uc003ujm.2_Missense_Mutation_p.T308A|ADAM22_uc003ujo.2_Missense_Mutation_p.T308A|ADAM22_uc003ujp.1_Missense_Mutation_p.T360A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	308	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87780325	87780325	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87780325A>T	uc003ujn.2	+	19	1675	c.1596A>T	c.(1594-1596)GGA>GGT	p.G532G	ADAM22_uc003ujk.1_Silent_p.G532G|ADAM22_uc003ujl.1_Silent_p.G532G|ADAM22_uc003ujm.2_Silent_p.G532G|ADAM22_uc003ujo.2_Silent_p.G532G|ADAM22_uc003ujp.1_Silent_p.G584G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	532	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87912203	87912203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87912203A>G	uc003ujs.2	-	3	842	c.737T>C	c.(736-738)ATC>ACC	p.I246T	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I246T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	246	Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)																	---	---	---	---
MGC26647	219557	broad.mit.edu	37	7	88424168	88424168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88424168T>C	uc003ujv.2	-	2	271	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	30											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847605	88847605	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847605A>C	uc011khi.1	+	2	783	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	82						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89854552	89854552	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89854552C>T	uc003ujz.2	+	2	549	c.156C>T	c.(154-156)TGC>TGT	p.C52C	STEAP2_uc003ujy.2_Silent_p.C94C|STEAP2_uc010len.2_Silent_p.C52C|STEAP2_uc003uka.2_Silent_p.C52C|STEAP2_uc003ukb.2_Silent_p.C52C|STEAP2_uc003ukc.2_Silent_p.C52C|STEAP2_uc003ukd.2_Silent_p.C52C	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	52					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856621	89856621	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89856621G>T	uc003ujz.2	+	3	1222	c.829G>T	c.(829-831)GCA>TCA	p.A277S	STEAP2_uc003ujy.2_Missense_Mutation_p.A319S|STEAP2_uc010len.2_Missense_Mutation_p.A277S|STEAP2_uc003uka.2_Missense_Mutation_p.A277S|STEAP2_uc003ukb.2_Missense_Mutation_p.A277S|STEAP2_uc003ukc.2_Missense_Mutation_p.A277S|STEAP2_uc003ukd.2_Missense_Mutation_p.A277S	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	277	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
GTPBP10	85865	broad.mit.edu	37	7	90014459	90014459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90014459T>C	uc003ukm.1	+	10	1221	c.1155T>C	c.(1153-1155)GAT>GAC	p.D385D	GTPBP10_uc003ukn.1_Silent_p.D306D|GTPBP10_uc003uko.1_Silent_p.D195D|CLDN12_uc003ukp.2_5'UTR|CLDN12_uc003ukq.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	385					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90356055	90356055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90356055T>C	uc003uky.2	+	3	520	c.298T>C	c.(298-300)TGC>CGC	p.C100R	CDK14_uc003ukt.1_Missense_Mutation_p.C54R|CDK14_uc003ukv.1_Missense_Mutation_p.C54R|CDK14_uc003uku.1_Missense_Mutation_p.C54R|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.C82R|CDK14_uc010les.1_Missense_Mutation_p.C54R|CDK14_uc011khl.1_Silent_p.L2L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	100					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895161	90895161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895161G>A	uc003ula.2	+	1	1379	c.966G>A	c.(964-966)TGG>TGA	p.W322*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	322	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895558	90895558	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895558C>T	uc003ula.2	+	1	1776	c.1363C>T	c.(1363-1365)CCG>TCG	p.P455S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	455	Helical; Name=4; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91708815	91708815	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91708815T>A	uc003ulg.2	+	31	7593	c.7368T>A	c.(7366-7368)GAT>GAA	p.D2456E	AKAP9_uc003ulf.2_Missense_Mutation_p.D2448E|AKAP9_uc003uli.2_Missense_Mutation_p.D2079E|AKAP9_uc003ulj.2_Missense_Mutation_p.D226E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2468	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92020590	92020590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92020590G>A	uc003ulw.2	+	16	2539	c.2163G>A	c.(2161-2163)AGG>AGA	p.R721R	ANKIB1_uc010lew.1_Missense_Mutation_p.A8T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	721							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027890	92027890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92027890A>G	uc003ulw.2	+	20	3273	c.2897A>G	c.(2896-2898)AAT>AGT	p.N966S	ANKIB1_uc010lew.1_Missense_Mutation_p.N235S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	966							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92129140	92129140	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92129140A>C	uc003uly.2	-	16	2692	c.2596T>G	c.(2596-2598)TTT>GTT	p.F866V	PEX1_uc011khr.1_Missense_Mutation_p.F658V|PEX1_uc010ley.2_Missense_Mutation_p.F809V|PEX1_uc011khs.1_Missense_Mutation_p.F544V|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	866					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92247520	92247520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92247520C>T	uc011khw.1	-	7	1112	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CDK6_uc010lez.2_Missense_Mutation_p.V234M	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92404119	92404119	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92404119C>T	uc011khw.1	-	3	672	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	CDK6_uc010lez.2_Missense_Mutation_p.R87Q	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	87	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92734465	92734465	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92734465A>T	uc003umf.2	-	3	1202	c.946T>A	c.(946-948)TGC>AGC	p.C316S	SAMD9_uc003umg.2_Missense_Mutation_p.C316S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	316						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92735292	92735292	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92735292T>C	uc003umf.2	-	3	375	c.119A>G	c.(118-120)GAC>GGC	p.D40G	SAMD9_uc003umg.2_Missense_Mutation_p.D40G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	40	SAM.					cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760589	92760589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92760589A>G	uc003umh.1	-	5	5912	c.4696T>C	c.(4696-4698)TCT>CCT	p.S1566P	SAMD9L_uc003umj.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umi.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umk.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1566P|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1566										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92982940	92982940	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92982940T>C	uc003umo.2	+						CCDC132_uc003umq.2_Intron|CCDC132_uc003ump.2_Intron|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron	NM_017667	NP_060137			coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
GNGT1	2792	broad.mit.edu	37	7	93540172	93540172	+	Missense_Mutation	SNP	G	A	A	rs138254553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:93540172G>A	uc003unc.1	+	3	315	c.167G>A	c.(166-168)GGC>GAC	p.G56D	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	56					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)															---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94146970	94146970	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94146970T>C	uc003uni.3	+	2	457	c.230_splice	c.e2+2	p.S77_splice	CASD1_uc003unh.2_Splice_Site_p.S77_splice|CASD1_uc003unj.3_Splice_Site_p.S77_splice	NM_022900	NP_075051			CAS1 domain containing 1 precursor							integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)															---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94827660	94827660	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94827660G>T	uc003unp.2	+	6	2037	c.1755_splice	c.e6-1	p.R585_splice	PPP1R9A_uc010lfj.2_Splice_Site_p.R585_splice|PPP1R9A_uc011kif.1_Splice_Site_p.R585_splice|PPP1R9A_uc003unq.2_Splice_Site_p.R585_splice|PPP1R9A_uc011kig.1_Splice_Site_p.R585_splice	NM_017650	NP_060120			protein phosphatase 1, regulatory (inhibitor)							cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)												HNSCC(28;0.073)			---	---	---	---
PON1	5444	broad.mit.edu	37	7	94944662	94944662	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94944662A>C	uc003uns.2	-	4	439	c.342T>G	c.(340-342)CCT>CCG	p.P114P	PON1_uc011kih.1_Silent_p.P114P	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
PON1	5444	broad.mit.edu	37	7	95025597	95025597	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95025597C>G	uc011kih.1	-	1	91	c.66G>C	c.(64-66)CTG>CTC	p.L22L	PON3_uc003unt.2_Silent_p.L22L|PON3_uc011kii.1_Silent_p.L22L			P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	22					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95813609	95813609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95813609C>T	uc003uof.3	-	11	1348	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	SLC25A13_uc003uog.3_Missense_Mutation_p.G387D|SLC25A13_uc011kik.1_Missense_Mutation_p.G278D	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	386	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95814285	95814285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95814285T>C	uc003uof.3	-	10	1163	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	SLC25A13_uc003uog.3_Silent_p.Q325Q|SLC25A13_uc011kik.1_Silent_p.Q216Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	324					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639170	96639170	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96639170T>A	uc003uom.2	+	4	609	c.609T>A	c.(607-609)AAT>AAA	p.N203K	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	113					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650040	96650040	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96650040C>T	uc003uon.2	-	3						NM_005221	NP_005212			distal-less homeobox 5						cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97498452	97498452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97498452G>A	uc003uot.3	-	3	523	c.17C>T	c.(16-18)GCG>GTG	p.A6V	ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.A6V|ASNS_uc003uov.3_Missense_Mutation_p.A6V|ASNS_uc011kio.1_Intron|ASNS_uc003uow.3_Intron|ASNS_uc003uox.3_Intron	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	6	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823866	97823866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97823866A>G	uc003upd.1	+	11	4382	c.4089A>G	c.(4087-4089)ACA>ACG	p.T1363T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860361	97860361	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97860361A>G	uc003upg.2	-	15	2399	c.2194T>C	c.(2194-2196)TGG>CGG	p.W732R	TECPR1_uc003uph.1_Missense_Mutation_p.W662R	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	732	TECPR 5.					integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98513399	98513399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98513399G>T	uc003upp.2	+	19	2462	c.2253G>T	c.(2251-2253)AAG>AAT	p.K751N	TRRAP_uc011kis.1_Missense_Mutation_p.K751N|TRRAP_uc003upr.2_Missense_Mutation_p.K443N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	751					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98530903	98530903	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98530903C>A	uc003upp.2	+	27	4101	c.3892C>A	c.(3892-3894)CGA>AGA	p.R1298R	TRRAP_uc011kis.1_Silent_p.R1298R|TRRAP_uc003upr.2_Silent_p.R990R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1298					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98533266	98533266	+	Missense_Mutation	SNP	C	T	T	rs139426093		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98533266C>T	uc003upp.2	+	28	4288	c.4079C>T	c.(4078-4080)CCG>CTG	p.P1360L	TRRAP_uc011kis.1_Missense_Mutation_p.P1360L|TRRAP_uc003upr.2_Missense_Mutation_p.P1052L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1360					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98535356	98535356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98535356C>T	uc003upp.2	+	30	4526	c.4317C>T	c.(4315-4317)AGC>AGT	p.S1439S	TRRAP_uc011kis.1_Silent_p.S1439S|TRRAP_uc003upr.2_Silent_p.S1131S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1439					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
SMURF1	57154	broad.mit.edu	37	7	98655120	98655120	+	Silent	SNP	A	T	T	rs150079661		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98655120A>T	uc003upu.1	-	4	578	c.258T>A	c.(256-258)ATT>ATA	p.I86I	SMURF1_uc003upv.1_Silent_p.I86I|SMURF1_uc003upt.2_Silent_p.I86I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	86	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	99002518	99002518	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99002518G>A	uc003uqe.2	-	2	193	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	24					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99021445	99021445	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99021445T>C	uc003uqh.2	-	7	2004	c.1873A>G	c.(1873-1875)ATC>GTC	p.I625V	PTCD1_uc011kiw.1_Missense_Mutation_p.I674V	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	625										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022974	99022974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99022974T>C	uc003uqh.2	-	6	1312	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	PTCD1_uc011kiw.1_Missense_Mutation_p.Q443R	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	394										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084466	99084466	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99084466G>A	uc003uqq.1	+	5	852	c.633G>A	c.(631-633)AGG>AGA	p.R211R	ZNF789_uc010lfw.1_Silent_p.R116R|ZNF789_uc003uqr.1_Silent_p.R153R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	211	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99092051	99092051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99092051C>A	uc003uqs.2	-	3	948	c.787G>T	c.(787-789)GGA>TGA	p.G263*	ZNF394_uc003uqt.2_Nonsense_Mutation_p.G56*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	263					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99129621	99129621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99129621T>C	uc003uqv.2	+	7	2393	c.2269T>C	c.(2269-2271)TGT>CGT	p.C757R	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.C684R|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.C493R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	757	C2H2-type 11; atypical.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF498	221785	broad.mit.edu	37	7	99227533	99227533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99227533A>G	uc003url.1	+	8	1852	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	ZNF498_uc003urm.1_Missense_Mutation_p.T345A|ZNF498_uc010lge.1_Missense_Mutation_p.T345A|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.T437A|ZNF498_uc003uro.1_Missense_Mutation_p.T293A	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	509					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)																	---	---	---	---
CYP3A4	1576	broad.mit.edu	37	7	99366086	99366086	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99366086T>C	uc003urv.1	-	7	665	c.561A>G	c.(559-561)ACA>ACG	p.T187T	CYP3A4_uc003urw.1_Silent_p.T187T|CYP3A4_uc011kiz.1_Silent_p.T146T|CYP3A4_uc011kja.1_Silent_p.T138T|CYP3A4_uc011kjb.1_Silent_p.T37T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	187				T -> S (in Ref. 1; BAA00001/AAA35742).	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)													---	---	---	---
GJC3	349149	broad.mit.edu	37	7	99526644	99526644	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99526644A>C	uc011kjd.1	-	1	600	c.600T>G	c.(598-600)GGT>GGG	p.G200G		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	200	Helical; (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)																	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99631365	99631365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99631365G>A	uc003usk.1	+	6	1456	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.A377T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.A200T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	413	C2H2-type 2.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99703151	99703151	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99703151A>G	uc003utb.3	+	11	1126	c.918A>G	c.(916-918)CGA>CGG	p.R306R	AP4M1_uc011kjg.1_Silent_p.R260R|AP4M1_uc010lgl.1_Silent_p.R281R|AP4M1_uc003utc.3_Silent_p.R313R|AP4M1_uc010lgm.2_Silent_p.R178R|AP4M1_uc003utd.2_Silent_p.R306R|AP4M1_uc011kjh.1_Silent_p.R258R|AP4M1_uc003ute.3_Silent_p.R81R|AP4M1_uc003utf.3_Silent_p.R178R	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	306	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99711671	99711671	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99711671G>A	uc003uti.2	-						TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Intron|TAF6_uc003utk.2_Intron|TAF6_uc011kji.1_Intron|TAF6_uc003utj.2_Intron|TAF6_uc003utl.2_Intron|TAF6_uc003utm.2_Intron|TAF6_uc003utn.1_Intron	NM_139315	NP_647476			TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf43	55262	broad.mit.edu	37	7	99754477	99754477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99754477C>T	uc003utr.2	-	6	1164	c.984G>A	c.(982-984)GGG>GGA	p.G328G	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.G96G|C7orf43_uc003uts.2_Silent_p.G59G	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	328											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	A	A	rs150667953	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99757655G>A	uc003utt.2	-	3	2374	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99811392	99811392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99811392G>A	uc003utx.1	+	33	3787	c.3632G>A	c.(3631-3633)GGG>GAG	p.G1211E	STAG3_uc011kjk.1_Missense_Mutation_p.G1153E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G436E|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1211					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028639	100028639	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100028639C>A	uc003uuw.2	+	1	1111	c.998C>A	c.(997-999)CCA>CAA	p.P333Q	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	333							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf51	222950	broad.mit.edu	37	7	100086267	100086267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100086267C>T	uc003uvd.1	+	4	1082	c.923C>T	c.(922-924)CCG>CTG	p.P308L	C7orf51_uc003uve.1_Missense_Mutation_p.P90L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	308	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100243920	100243920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100243920C>A	uc003uvy.2	-	13	1259	c.1152G>T	c.(1150-1152)ATG>ATT	p.M384I	ACTL6B_uc003uvx.1_Missense_Mutation_p.M175I|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	384					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350794	100350794	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100350794A>G	uc003uwj.2	+	14	3231	c.3066A>G	c.(3064-3066)CCA>CCG	p.P1022P	ZAN_uc003uwk.2_Silent_p.P1022P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1022	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100469238	100469238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100469238A>G	uc003uww.2	+	7	1243	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	358	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490064	100490064	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100490064T>C	uc003uxd.2	-	2	1600	c.1444A>G	c.(1444-1446)ATC>GTC	p.I482V	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.I482V|ACHE_uc003uxf.2_Missense_Mutation_p.I482V|ACHE_uc003uxg.2_Missense_Mutation_p.I482V|ACHE_uc003uxh.2_Missense_Mutation_p.I394V|ACHE_uc003uxi.2_Missense_Mutation_p.I482V	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	482					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
ACHE	43	broad.mit.edu	37	7	100491298	100491298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100491298C>T	uc003uxd.2	-	1	712	c.556G>A	c.(556-558)GCC>ACC	p.A186T	ACHE_uc003uxe.2_Missense_Mutation_p.A186T|ACHE_uc003uxf.2_Missense_Mutation_p.A186T|ACHE_uc003uxg.2_Missense_Mutation_p.A186T|ACHE_uc003uxh.2_Missense_Mutation_p.A186T|ACHE_uc003uxi.2_Missense_Mutation_p.A186T|ACHE_uc003uxj.1_Missense_Mutation_p.A305T	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	186					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677683	100677683	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677683G>A	uc003uxp.1	+	3	3039	c.2986G>A	c.(2986-2988)GCC>ACC	p.A996T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	996	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679615	100679615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100679615A>G	uc003uxp.1	+	3	4971	c.4918A>G	c.(4918-4920)ACC>GCC	p.T1640A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1640	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683690	100683690	+	Missense_Mutation	SNP	C	T	T	rs142796970		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683690C>T	uc003uxp.1	+	3	9046	c.8993C>T	c.(8992-8994)CCG>CTG	p.P2998L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2998	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686475	100686475	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100686475A>G	uc003uxp.1	+	3	11831	c.11778A>G	c.(11776-11778)GTA>GTG	p.V3926V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3926	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100732344	100732344	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100732344C>T	uc003uxq.2	+	3	1982	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	584					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856390	100856390	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100856390T>C	uc003uyd.2	-	7	1231	c.775A>G	c.(775-777)AAG>GAG	p.K259E	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	259					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
EMID2	136227	broad.mit.edu	37	7	101188738	101188738	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101188738C>T	uc010lhy.1	+	7	1009	c.817C>T	c.(817-819)CTC>TTC	p.L273F	EMID2_uc003uyo.1_Missense_Mutation_p.L275F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	275						collagen				ovary(1)	1	Lung NSC(181;0.215)																	---	---	---	---
SH2B2	10603	broad.mit.edu	37	7	101960844	101960844	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101960844A>G	uc011kko.1	+	6	1616	c.1571A>G	c.(1570-1572)CAT>CGT	p.H524R		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	481	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102106487	102106487	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102106487C>T	uc003uzn.2	+	2	442	c.304C>T	c.(304-306)CCC>TCC	p.P102S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	102	LRR 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102108751	102108751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102108751C>T	uc003uzn.2	+	7	984	c.846C>T	c.(844-846)CAC>CAT	p.H282H	LRWD1_uc003uzo.2_Silent_p.H130H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	282					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760524	102760524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102760524A>T	uc003vbc.2	-	3	769	c.441T>A	c.(439-441)GAT>GAA	p.D147E	NAPEPLD_uc003vbd.2_Missense_Mutation_p.D147E|NAPEPLD_uc011klj.1_Missense_Mutation_p.D220E|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	147					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1																		---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102948078	102948078	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102948078T>C	uc003vbl.2	+	7	806	c.772T>C	c.(772-774)TTT>CTT	p.F258L	PMPCB_uc010liu.1_Missense_Mutation_p.F258L|PMPCB_uc003vbk.1_Missense_Mutation_p.F258L|PMPCB_uc003vbm.2_Missense_Mutation_p.F167L|PMPCB_uc010liv.2_Missense_Mutation_p.F164L|PMPCB_uc010liw.2_Missense_Mutation_p.F167L|PMPCB_uc011kll.1_Missense_Mutation_p.F153L|PMPCB_uc011klm.1_Missense_Mutation_p.F133L	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	258					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	T	T	rs115035120	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103124188C>T	uc003vca.2	-	62	10253	c.10093G>A	c.(10093-10095)GTC>ATC	p.V3365I	RELN_uc010liz.2_Missense_Mutation_p.V3365I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3365	BNR 16.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103130326	103130326	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103130326A>T	uc003vca.2	-	60	9786	c.9626T>A	c.(9625-9627)ATC>AAC	p.I3209N	RELN_uc010liz.2_Missense_Mutation_p.I3209N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103191549	103191549	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103191549C>A	uc003vca.2	-	41	6427	c.6267G>T	c.(6265-6267)AGG>AGT	p.R2089S	RELN_uc010liz.2_Missense_Mutation_p.R2089S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2089					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230160	103230160	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103230160G>T	uc003vca.2	-	28	4188	c.4028C>A	c.(4027-4029)GCA>GAA	p.A1343E	RELN_uc010liz.2_Missense_Mutation_p.A1343E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1343					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
MLL5	55904	broad.mit.edu	37	7	104742044	104742044	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:104742044T>C	uc003vcm.2	+						MLL5_uc010ljc.2_Intron|MLL5_uc010lje.1_Intron	NM_182931	NP_891847			myeloid/lymphoid or mixed-lineage leukemia 5						cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148964	105148964	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105148964A>G	uc003vcx.2	-	2					PUS7_uc010lji.2_5'UTR|PUS7_uc003vcy.2_5'UTR|PUS7_uc003vcz.1_5'UTR	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105641973	105641973	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105641973C>T	uc003vdl.3	+	7	887	c.779C>T	c.(778-780)GCG>GTG	p.A260V	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.A247V|CDHR3_uc011klt.1_Missense_Mutation_p.A172V|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508059	106508059	+	Missense_Mutation	SNP	G	A	A	rs142380460	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508059G>A	uc003vdv.3	+	2	138	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R18Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R18Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	18					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R18Q(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508394C>T	uc003vdv.3	+	2	473	c.388C>T	c.(388-390)CGG>TGG	p.R130W	PIK3CG_uc003vdu.2_Missense_Mutation_p.R130W|PIK3CG_uc003vdw.2_Missense_Mutation_p.R130W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106781302	106781302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106781302C>T	uc003vdx.2	+	5	666	c.491C>T	c.(490-492)TCT>TTT	p.S164F		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	164	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106799932	106799932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106799932T>A	uc003vdx.2	+	11	1337	c.1162T>A	c.(1162-1164)TGC>AGC	p.C388S		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	388	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106830637	106830637	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106830637A>G	uc003vdy.2	+	8	1128	c.942A>G	c.(940-942)CCA>CCG	p.P314P	HBP1_uc011klv.1_Silent_p.P324P|HBP1_uc003vdz.2_Silent_p.P314P|HBP1_uc003vea.2_Silent_p.P314P|HBP1_uc003veb.1_Silent_p.P314P	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	314	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1																		---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107258781	107258781	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107258781A>G	uc003vej.2	+	8	1038	c.699A>G	c.(697-699)TTA>TTG	p.L233L	BCAP29_uc011kly.1_Silent_p.L139L|BCAP29_uc011klz.1_Intron|BCAP29_uc011kma.1_Missense_Mutation_p.R260G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	233	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2																		---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107330694	107330694	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107330694A>C	uc003vep.2	+						SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	NM_000441	NP_000432			pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7														Pendred_syndrome				---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107394336	107394336	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107394336A>G	uc003veq.2	+						CBLL1_uc011kme.1_Intron|CBLL1_uc011kmf.1_Intron	NM_024814	NP_079090			Cas-Br-M (murine) ecotropic retroviral						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107575974	107575974	+	Silent	SNP	G	A	A	rs146681738		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107575974G>A	uc003vew.2	-	27	4409	c.4074C>T	c.(4072-4074)GAC>GAT	p.D1358D	LAMB1_uc003vev.2_Silent_p.D1382D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1358	Potential.|Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107677924	107677924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107677924G>A	uc010ljo.1	-	30	4672	c.4588C>T	c.(4588-4590)CAA>TAA	p.Q1530*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1530*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q499*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1530	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107732062	107732062	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107732062A>G	uc010ljo.1	-						LAMB4_uc003vey.2_Intron	NM_007356	NP_031382			laminin, beta 4 precursor						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108213489	108213489	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108213489T>C	uc003vfn.2	+	3	566	c.364T>C	c.(364-366)TTT>CTT	p.F122L		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	122					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0																		---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763174	110763174	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763174C>T	uc003vft.3	+	4	1392	c.346C>T	c.(346-348)CCT>TCT	p.P116S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P116S|LRRN3_uc003vfs.3_Missense_Mutation_p.P116S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	116	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764599	110764599	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764599A>G	uc003vft.3	+	4	2817	c.1771A>G	c.(1771-1773)ATT>GTT	p.I591V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I591V|LRRN3_uc003vfs.3_Missense_Mutation_p.I591V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	591	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764825	110764825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764825T>A	uc003vft.3	+	4	3043	c.1997T>A	c.(1996-1998)TTA>TAA	p.L666*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L666*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L666*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	666	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
GPR85	54329	broad.mit.edu	37	7	112723818	112723818	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112723818A>T	uc010ljv.2	-	2	1476	c.959T>A	c.(958-960)TTT>TAT	p.F320Y	GPR85_uc003vgp.1_Missense_Mutation_p.F320Y|GPR85_uc003vgq.2_Missense_Mutation_p.F320Y|GPR85_uc010ljw.1_Missense_Mutation_p.F320Y	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519801	113519801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113519801C>T	uc010ljy.1	-	4	1377	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	449					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558357	113558357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113558357T>C	uc010ljy.1	-	1	726	c.695A>G	c.(694-696)CAA>CGA	p.Q232R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	232					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114304425	114304425	+	Missense_Mutation	SNP	A	G	G	rs145154396	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:114304425A>G	uc003vhb.2	+	16	2311	c.1937A>G	c.(1936-1938)AAT>AGT	p.N646S	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N671S|FOXP2_uc003vha.2_Missense_Mutation_p.N554S|FOXP2_uc011kmu.1_Missense_Mutation_p.N663S|FOXP2_uc011kmv.1_Missense_Mutation_p.N645S|FOXP2_uc010ljz.1_Missense_Mutation_p.N461S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	646					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8																		---	---	---	---
MET	4233	broad.mit.edu	37	7	116339390	116339390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339390C>T	uc003vij.2	+	2	439	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	MET_uc010lkh.2_Silent_p.Y84Y|MET_uc011knc.1_Silent_p.Y84Y|MET_uc011knd.1_Silent_p.Y84Y|MET_uc011kne.1_Silent_p.Y84Y|MET_uc011knf.1_Silent_p.Y84Y|MET_uc011kng.1_Silent_p.Y84Y|MET_uc011knh.1_Silent_p.Y84Y|MET_uc011kni.1_Silent_p.Y84Y|MET_uc003vii.1_Silent_p.Y103Y|MET_uc010lkg.2_Silent_p.Y84Y|MET_uc011kmz.1_Silent_p.Y84Y|MET_uc011kna.1_Silent_p.Y84Y|MET_uc011knb.1_Silent_p.Y84Y	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	84	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
MET	4233	broad.mit.edu	37	7	116339813	116339813	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339813T>C	uc003vij.2	+	2	862	c.675T>C	c.(673-675)GGT>GGC	p.G225G	MET_uc010lkh.2_Silent_p.G225G|MET_uc011knc.1_Silent_p.G225G|MET_uc011knd.1_Silent_p.G225G|MET_uc011kne.1_Silent_p.G225G|MET_uc011knf.1_Silent_p.G225G|MET_uc011kng.1_Silent_p.G225G|MET_uc011knh.1_Silent_p.G225G|MET_uc011kni.1_Silent_p.G225G|MET_uc003vii.1_Silent_p.G244G|MET_uc010lkg.2_Silent_p.G225G|MET_uc011kmz.1_Silent_p.G225G|MET_uc011kna.1_Silent_p.G225G|MET_uc011knb.1_Silent_p.G225G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	225	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
ST7	7982	broad.mit.edu	37	7	116861965	116861965	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116861965T>C	uc003vin.2	+						ST7_uc011knl.1_Intron|ST7_uc003vio.2_Intron|ST7_uc003viq.2_Intron|ST7_uc011knm.1_Intron|ST7_uc003vir.2_Intron|ST7_uc011knn.1_Intron	NM_021908	NP_068708			suppression of tumorigenicity 7 isoform b							integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955236	116955236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116955236A>T	uc003viz.2	-	3	777	c.477T>A	c.(475-477)GAT>GAA	p.D159E	WNT2_uc003vja.2_Missense_Mutation_p.D63E	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	159					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116960775	116960775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116960775C>T	uc003viz.2	-	2	456	c.156G>A	c.(154-156)CGG>CGA	p.R52R	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431265	117431265	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117431265A>G	uc003vjf.2	-	4	2077	c.1985T>C	c.(1984-1986)ATT>ACT	p.I662T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	662										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432080	117432080	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117432080T>C	uc003vjf.2	-	4	1262	c.1170A>G	c.(1168-1170)TCA>TCG	p.S390S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	390	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117876922	117876922	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117876922T>C	uc003vji.2	+	5	827	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	218	ANK 5.				male gonad development						0																		---	---	---	---
TSPAN12	23554	broad.mit.edu	37	7	120496772	120496772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120496772C>T	uc003vjk.2	-	2	420	c.46G>A	c.(46-48)GCC>ACC	p.A16T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	16	Helical; (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)																	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121650696	121650696	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121650696A>C	uc003vjy.2	+	12	1991	c.1596A>C	c.(1594-1596)GAA>GAC	p.E532D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.E532D|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	532	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121652348	121652348	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121652348C>T	uc003vjy.2	+	12	3643	c.3248C>T	c.(3247-3249)GCG>GTG	p.A1083V	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1083	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121694043	121694043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121694043G>A	uc003vjy.2	+	26	6727	c.6332G>A	c.(6331-6333)TGG>TAG	p.W2111*	PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.W1244*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.W701*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2111	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121719675	121719675	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121719675T>C	uc003vka.2	-	20	2468	c.2372A>G	c.(2371-2373)AAT>AGT	p.N791S	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.N791S|AASS_uc011knw.1_Missense_Mutation_p.N279S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	791	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
AASS	10157	broad.mit.edu	37	7	121773641	121773641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121773641A>G	uc003vka.2	-	1	236	c.140T>C	c.(139-141)ATC>ACC	p.I47T	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.I47T|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	47	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	121960379	121960379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121960379T>C	uc010lkp.2	-	29	3894	c.3731A>G	c.(3730-3732)GAC>GGC	p.D1244G	CADPS2_uc011knx.1_Missense_Mutation_p.D619G|CADPS2_uc003vkg.3_Missense_Mutation_p.D898G|CADPS2_uc010lkq.2_Missense_Mutation_p.D1203G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1244					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342388	122342388	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122342388T>A	uc003vkk.1	-	1	634	c.417A>T	c.(415-417)GTA>GTT	p.V139V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	139	PA.					integral to membrane	zinc ion binding				0																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635453	122635453	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635453C>A	uc003vkl.1	-	1	302	c.236G>T	c.(235-237)TGC>TTC	p.C79F		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	79	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635559	122635559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635559G>A	uc003vkl.1	-	1	196	c.130C>T	c.(130-132)CCT>TCT	p.P44S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	44	Helical; Name=2; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635650	122635650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635650G>T	uc003vkl.1	-	1	105	c.39C>A	c.(37-39)ATC>ATA	p.I13I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	13	Helical; Name=1; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124387074	124387074	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:124387074A>G	uc003vli.2	-	2	1998	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	449	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173162	126173162	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173162G>A	uc003vlr.2	-	8	2585	c.2274C>T	c.(2272-2274)CTC>CTT	p.L758L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L758L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	758	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127238634	127238634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127238634A>G	uc003vmd.1	+	4	1325	c.1106A>G	c.(1105-1107)AAT>AGT	p.N369S	FSCN3_uc011koh.1_Missense_Mutation_p.N235S|FSCN3_uc010llc.1_Missense_Mutation_p.N369S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	369						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127240464	127240464	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127240464G>T	uc003vmd.1	+						FSCN3_uc010llc.1_Intron	NM_020369	NP_065102			fascin 3							actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127361418	127361418	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127361418C>T	uc003vmi.2	+	10	1342	c.1116C>T	c.(1114-1116)AGC>AGT	p.S372S	SND1_uc010lle.2_Silent_p.S25S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	372	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127731895	127731895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127731895G>A	uc003vmi.2	+	23	2855	c.2629G>A	c.(2629-2631)GAA>AAA	p.E877K	SND1_uc010lle.2_Missense_Mutation_p.E530K	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	877					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128038643	128038643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128038643C>T	uc011kol.1	-	7	750	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	IMPDH1_uc011kom.1_Missense_Mutation_p.C210Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.C190Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.C300Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.C290Y|IMPDH1_uc011kon.1_Missense_Mutation_p.C267Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.C264Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.C223Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.C231Y	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	215	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128452045	128452045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128452045C>T	uc003vnv.1	+	13	2587	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.S556S|CCDC136_uc010llq.1_Silent_p.S109S|CCDC136_uc003vny.1_Silent_p.S350S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	740						integral to membrane	protein binding			ovary(2)	2																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128470877	128470877	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128470877C>T	uc003vnz.3	+	1	395	c.186C>T	c.(184-186)CGC>CGT	p.R62R	FLNC_uc003voa.3_Silent_p.R62R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	62	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478072	128478072	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128478072G>A	uc003vnz.3	+	6	1210	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	FLNC_uc003voa.3_Missense_Mutation_p.R334H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	334	Filamin 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610202	128610202	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128610202C>T	uc003vol.1	-	20	2972	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	TNPO3_uc010llx.1_Silent_p.P277P|TNPO3_uc003vom.1_Silent_p.P800P|TNPO3_uc010lly.1_Silent_p.P900P|TNPO3_uc010llz.1_Silent_p.P802P	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	866					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128804332	128804332	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128804332T>C	uc003vop.1	+	5	610	c.381T>C	c.(379-381)AGT>AGC	p.S127S	TSPAN33_uc003voq.1_5'Flank	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	127	Extracellular (Potential).					integral to membrane				ovary(1)	1																OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SMO	6608	broad.mit.edu	37	7	128843398	128843398	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128843398T>G	uc003vor.2	+	2	785	c.505T>G	c.(505-507)TGC>GGC	p.C169G		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	169	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37								Mis		skin basal cell 								---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122759	129122759	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122759T>A	uc011koy.1	+	20	2166	c.2126T>A	c.(2125-2127)GTC>GAC	p.V709D	FAM40B_uc003vow.2_Missense_Mutation_p.V709D|FAM40B_uc011koz.1_Missense_Mutation_p.V201D	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	709											0																		---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122851C>T	uc011koy.1	+	20	2258	c.2218C>T	c.(2218-2220)CGT>TGT	p.R740C	FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	740											0																		---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131113829	131113829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131113829A>G	uc011kpm.1	+	9	949	c.885A>G	c.(883-885)CAA>CAG	p.Q295Q	MKLN1_uc011kpl.1_Silent_p.Q272Q|MKLN1_uc010lmh.2_Silent_p.Q295Q|MKLN1_uc003vqs.2_Silent_p.Q88Q	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	295	Kelch 1.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)																	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131883351	131883351	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131883351A>C	uc003vra.3	-	13	2860	c.2631T>G	c.(2629-2631)ACT>ACG	p.T877T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	877	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131982870	131982870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131982870A>G	uc003vra.3	-	4	1712	c.1483T>C	c.(1483-1485)TAC>CAC	p.Y495H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	495	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132192892	132192892	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132192892C>T	uc003vra.3	-	2	790	c.561G>A	c.(559-561)ACG>ACA	p.T187T	PLXNA4_uc003vrc.2_Silent_p.T187T|PLXNA4_uc003vrb.2_Silent_p.T187T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	187	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132959843	132959843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132959843C>T	uc003vrk.2	+	2	228	c.193C>T	c.(193-195)CAC>TAC	p.H65Y	EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.H65Y|EXOC4_uc003vrj.2_Missense_Mutation_p.H65Y	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	65	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133002097	133002097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133002097G>A	uc003vrk.2	+	5	751	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	EXOC4_uc011kpo.1_Missense_Mutation_p.R138Q|EXOC4_uc003vri.2_Missense_Mutation_p.R239Q|EXOC4_uc003vrj.2_Missense_Mutation_p.R239Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	239					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134133174	134133174	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134133174G>A	uc003vrp.1	-	6	698	c.624C>T	c.(622-624)ACC>ACT	p.T208T	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	208					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)													---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134221503	134221503	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134221503A>G	uc003vrr.2	+	5	851	c.531A>G	c.(529-531)AAA>AAG	p.K177K		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	177					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5																		---	---	---	---
BPGM	669	broad.mit.edu	37	7	134346583	134346583	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134346583T>C	uc003vrv.2	+	3	865	c.324T>C	c.(322-324)GGT>GGC	p.G108G	BPGM_uc003vrw.2_Silent_p.G108G|BPGM_uc003vrx.2_Silent_p.G108G	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	108					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135098336	135098336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135098336G>A	uc003vsv.1	-	6	895	c.588C>T	c.(586-588)TGC>TGT	p.C196C	CNOT4_uc003vss.2_Silent_p.C196C|CNOT4_uc011kpz.1_Silent_p.C196C|CNOT4_uc003vst.2_Silent_p.C196C|CNOT4_uc003vsu.1_Silent_p.C196C|CNOT4_uc011kpy.1_Silent_p.C196C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	196	C3H1-type.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135282958	135282958	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135282958T>C	uc003vsw.2	+							NM_015135	NP_055950			nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135292081	135292081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135292081G>A	uc003vsw.2	+	22	3188	c.3157G>A	c.(3157-3159)GTG>ATG	p.V1053M		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1053					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135304309	135304309	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135304309G>A	uc003vsw.2	+	29	4133	c.4102G>A	c.(4102-4104)GCT>ACT	p.A1368T	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1368					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135309918	135309918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135309918G>A	uc003vsw.2	+	32	4517	c.4486G>A	c.(4486-4488)GCC>ACC	p.A1496T	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1496					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135333207	135333207	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135333207A>T	uc003vsw.2	+	43	5973	c.5942A>T	c.(5941-5943)GAC>GTC	p.D1981V	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1981					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135392908	135392908	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135392908G>A	uc003vta.2	-	3	1008	c.319C>T	c.(319-321)CGC>TGC	p.R107C	SLC13A4_uc003vtb.2_Missense_Mutation_p.R107C|SLC13A4_uc003vtc.1_Missense_Mutation_p.R107C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	107						integral to plasma membrane	sodium:sulfate symporter activity				0																		---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136587912	136587912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136587912T>C	uc003vtf.1	+						CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron|MIR490_hsa-mir-490|MI0003125_5'Flank	NM_001006630	NP_001006631			cholinergic receptor, muscarinic 2						activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137282651	137282651	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137282651A>C	uc003vtt.2	-	12	1254	c.1253T>G	c.(1252-1254)CTT>CGT	p.L418R	DGKI_uc003vtu.2_Missense_Mutation_p.L118R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	418	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137590509	137590509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137590509A>G	uc003vtw.2	-	6	1249	c.854T>C	c.(853-855)TTG>TCG	p.L285S	CREB3L2_uc003vtx.1_Missense_Mutation_p.L285S|CREB3L2_uc003vtv.2_Missense_Mutation_p.L222S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	285	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160								T	FUS	fibromyxoid sarcoma								---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137773399	137773399	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137773399A>G	uc003vtz.2	+	2	215	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	AKR1D1_uc011kqb.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqf.1_Missense_Mutation_p.Y49C	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	49					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138210040	138210040	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138210040A>G	uc003vuc.2	+	5	1034	c.819A>G	c.(817-819)CTA>CTG	p.L273L	TRIM24_uc003vub.2_Silent_p.L273L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	273					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138235936	138235936	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138235936A>G	uc003vuc.2	+						TRIM24_uc003vub.2_Intron	NM_015905	NP_056989			transcriptional intermediary factor 1 alpha						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138556002	138556002	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138556002A>G	uc011kql.1	-	13	4501	c.4452T>C	c.(4450-4452)AGT>AGC	p.S1484S	KIAA1549_uc011kqi.1_Silent_p.S268S|KIAA1549_uc003vuk.3_Silent_p.S1434S|KIAA1549_uc011kqj.1_Silent_p.S1484S|KIAA1549_uc011kqk.1_Silent_p.S268S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1484						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603255	138603255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603255A>G	uc011kql.1	-	2	1166	c.1117T>C	c.(1117-1119)TCA>CCA	p.S373P	KIAA1549_uc003vuk.3_Missense_Mutation_p.S323P|KIAA1549_uc011kqj.1_Missense_Mutation_p.S373P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	373						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603418	138603418	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603418A>G	uc011kql.1	-	2	1003	c.954T>C	c.(952-954)AGT>AGC	p.S318S	KIAA1549_uc003vuk.3_Silent_p.S268S|KIAA1549_uc011kqj.1_Silent_p.S318S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	318						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603691	138603691	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603691A>T	uc011kql.1	-	2	730	c.681T>A	c.(679-681)AGT>AGA	p.S227R	KIAA1549_uc003vuk.3_Missense_Mutation_p.S177R|KIAA1549_uc011kqj.1_Missense_Mutation_p.S227R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	227						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764213	138764213	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764213T>C	uc003vun.2	-						ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Intron	NM_020119	NP_064504			zinc finger antiviral protein isoform 1						response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764925	138764925	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764925A>G	uc003vun.2	-	4	1150	c.762T>C	c.(760-762)TTT>TTC	p.F254F	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.F254F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	254	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138854101	138854101	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138854101A>G	uc003vus.2	+						TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_Intron|TTC26_uc003vut.2_Intron|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202			tetratricopeptide repeat domain 26 isoform 1								binding			ovary(1)	1																		---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138968607	138968607	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138968607A>G	uc011kqr.1	+	15	2956	c.2956A>G	c.(2956-2958)ACC>GCC	p.T986A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	986	Ser-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KLRG2	346689	broad.mit.edu	37	7	139168212	139168212	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139168212G>A	uc003vvb.2	-	1	246	c.177C>T	c.(175-177)GGC>GGT	p.G59G	KLRG2_uc010lnc.2_Silent_p.G59G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	59	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)																	---	---	---	---
JHDM1D	80853	broad.mit.edu	37	7	139826622	139826622	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139826622T>A	uc003vvm.2	-	6	707	c.703A>T	c.(703-705)ATG>TTG	p.M235L		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	235	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)																	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140439719	140439719	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140439719G>A	uc003vwc.3	-	17	2081	c.2020C>T	c.(2020-2022)CTG>TTG	p.L674L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	674	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
AGK	55750	broad.mit.edu	37	7	141341172	141341172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141341172C>T	uc003vwi.2	+	12	1022	c.851C>T	c.(850-852)GCG>GTG	p.A284V	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	284					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)																	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141422951	141422951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141422951G>A	uc003vwn.2	+	6	1304	c.898G>A	c.(898-900)GCT>ACT	p.A300T	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	300	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)																	---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464641	141464641	+	Missense_Mutation	SNP	C	T	T	rs149980259		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141464641C>T	uc003vwp.1	+	1	745	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	228	Cytoplasmic (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478688	141478688	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141478688C>T	uc003vwq.1	+	1	400	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	134	Helical; Name=4; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)														---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141724940	141724940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141724940A>G	uc003vwy.2	+	8	1027	c.973A>G	c.(973-975)AAT>GAT	p.N325D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	325	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765238	141765238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141765238G>A	uc003vwy.2	+	38	4642	c.4588G>A	c.(4588-4590)GCA>ACA	p.A1530T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1530	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	142495163	142495163	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142495163C>T	uc011ksh.1	+						uc011ksi.1_Intron|uc003vzw.1_RNA|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_5'Flank|uc003wbe.3_Intron|uc003wbf.3_Intron|uc003wbg.3_Intron|uc003wbh.3_Intron|uc003wbi.3_Intron|uc003wbj.3_Intron|uc003wbm.3_Intron|uc003wbn.3_Intron|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	142499034	142499034	+	RNA	SNP	C	T	T	rs61732509	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142499034C>T	uc011ksh.1	+	3		c.413C>T			uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Missense_Mutation_p.S150L|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142611854	142611854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142611854C>T	uc003wby.1	-	12	1739	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	492	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)																	---	---	---	---
C7orf34	135927	broad.mit.edu	37	7	142637475	142637475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142637475C>T	uc003wca.2	+	2	286	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	57						extracellular region					0	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142638398	142638398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142638398A>G	uc003wcb.2	-	19	2350	c.2140T>C	c.(2140-2142)TAT>CAT	p.Y714H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	714	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142640415	142640415	+	Silent	SNP	G	A	A	rs145850557		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142640415G>A	uc003wcb.2	-	16	1929	c.1719C>T	c.(1717-1719)GGC>GGT	p.G573G		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	573	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881269	142881269	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881269G>T	uc011ksw.1	+	1	758	c.758G>T	c.(757-759)AGC>ATC	p.S253I		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	253	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881406	142881406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881406A>G	uc011ksw.1	+	1	895	c.895A>G	c.(895-897)ATC>GTC	p.I299V		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	299	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919425	142919425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142919425G>A	uc011ksx.1	+	1	254	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143013357	143013357	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143013357A>G	uc003wcr.1	+	1	139	c.52A>G	c.(52-54)AGT>GGT	p.S18G	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	18	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143039041	143039041	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143039041T>C	uc003wcr.1	+	15	1689	c.1602T>C	c.(1600-1602)GGT>GGC	p.G534G	CLCN1_uc011ktc.1_Silent_p.G146G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	534					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747579	143747579	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143747579C>A	uc011ktw.1	+	1	85	c.85C>A	c.(85-87)CTT>ATT	p.L29I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)																	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144150652	144150652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144150652C>T	uc003weq.2	-	9	821	c.718G>A	c.(718-720)GCC>ACC	p.A240T	TPK1_uc003weo.2_Missense_Mutation_p.A186T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.A191T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	240					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707793	144707793	+	IGR	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707793C>G								TPK1 (174647 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707921	144707921	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707921A>T								TPK1 (174775 upstream) : None (None downstream)																																			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805249	146805249	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146805249T>A	uc003weu.1	+	5	1077	c.561T>A	c.(559-561)GTT>GTA	p.V187V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	187	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147844651	147844651	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147844651A>G	uc003weu.1	+	17	3139	c.2623A>G	c.(2623-2625)ACC>GCC	p.T875A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	875	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148497652	148497652	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148497652A>G	uc010lpg.2	+	22	2835	c.2309A>G	c.(2308-2310)GAC>GGC	p.D770G	CUL1_uc003wey.2_Missense_Mutation_p.D770G|CUL1_uc003wez.2_Missense_Mutation_p.D660G|CUL1_uc003wfa.2_Missense_Mutation_p.D431G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148525902	148525902	+	Silent	SNP	G	A	A	rs137864062		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148525902G>A	uc003wfd.1	-	6	721	c.555C>T	c.(553-555)GAC>GAT	p.D185D	EZH2_uc011kug.1_Silent_p.D176D|EZH2_uc003wfb.1_Silent_p.D185D|EZH2_uc003wfc.1_Silent_p.D146D|EZH2_uc011kuh.1_Silent_p.D176D|EZH2_uc011kui.1_Silent_p.D185D|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	185	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769148	148769148	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148769148T>A	uc003wfh.2	-	4	853	c.716A>T	c.(715-717)CAC>CTC	p.H239L	ZNF786_uc011kuk.1_Missense_Mutation_p.H202L|ZNF786_uc003wfi.2_Missense_Mutation_p.H153L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148800939	148800939	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148800939T>C	uc003wfj.2	-	4	2097	c.2024A>G	c.(2023-2025)TAC>TGC	p.Y675C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	675	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148895675	148895675	+	Missense_Mutation	SNP	C	T	T	rs139886507		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148895675C>T	uc003wfm.2	+	2	521	c.416C>T	c.(415-417)ACG>ATG	p.T139M	ZNF282_uc011kun.1_Missense_Mutation_p.T139M|ZNF282_uc003wfn.2_Missense_Mutation_p.T79M|ZNF282_uc003wfo.2_Missense_Mutation_p.T79M	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	139					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	148978623	148978623	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148978623C>T	uc003wfr.3	+						uc011kuo.1_5'Flank					Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.																														---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129101	149129101	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129101C>T	uc003wfv.2	-	6	2425	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129387	149129387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152807	149152807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149152807T>C	uc003wfv.2	-	2	470	c.307A>G	c.(307-309)ACC>GCC	p.T103A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149467579	149467579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149467579T>C	uc003wgd.2	-	3	242	c.101A>G	c.(100-102)CAG>CGG	p.Q34R	ZNF467_uc003wgc.2_Missense_Mutation_p.Q34R	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149516491	149516491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149516491G>A	uc010lpk.2	+	85	11894	c.11894G>A	c.(11893-11895)GGC>GAC	p.G3965D	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3965	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149529972	149529972	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149529972C>T	uc010lpk.2	+	111	15386	c.15386C>T	c.(15385-15387)CCG>CTG	p.P5129L	SSPO_uc003wgh.2_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	5129	CTCK.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149557749	149557749	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149557749A>G	uc010lpn.2	+	7	1692	c.1500A>G	c.(1498-1500)TCA>TCG	p.S500S	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	500	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1																		---	---	---	---
ATP6V0E2	155066	broad.mit.edu	37	7	149575841	149575841	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149575841T>C	uc003wgr.2	+						ATP6V0E2_uc003wgs.2_Intron|ATP6V0E2_uc003wgp.2_Missense_Mutation_p.V125A|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265			ATPase, H+ transporting, V0 subunit isoform 1						ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)															---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174507	150174507	+	Missense_Mutation	SNP	C	T	T	rs146125013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150174507C>T	uc003whj.2	+	5	1967	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150270151	150270151	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150270151T>C	uc003whl.2	+	3					GIMAP4_uc011kuu.1_3'UTR|GIMAP4_uc011kuv.1_3'UTR	NM_018326	NP_060796			GTPase, IMAP family member 4								GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553893	150553893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553893C>T	uc003why.1	+	3	4553	c.335C>T	c.(334-336)ACC>ATC	p.T112I	ABP1_uc003whz.1_Missense_Mutation_p.T112I|ABP1_uc003wia.1_Missense_Mutation_p.T112I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	112					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553979	150553979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553979A>G	uc003why.1	+	3	4639	c.421A>G	c.(421-423)AGG>GGG	p.R141G	ABP1_uc003whz.1_Missense_Mutation_p.R141G|ABP1_uc003wia.1_Missense_Mutation_p.R141G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	141					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150555934	150555934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150555934C>T	uc003why.1	+	4	5872	c.1654C>T	c.(1654-1656)CCA>TCA	p.P552S	ABP1_uc003whz.1_Missense_Mutation_p.P552S|ABP1_uc003wia.1_Missense_Mutation_p.P552S	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	552					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150715789	150715789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150715789T>C	uc011kvc.1	-	6	1712	c.1636A>G	c.(1636-1638)ACC>GCC	p.T546A	ATG9B_uc003wig.3_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	546	Helical; (Potential).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150752108	150752108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150752108G>T	uc003wir.1	-							NM_004935	NP_004926			cyclin-dependent kinase 5 isoform 1						activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)														---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150932145	150932145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150932145T>A	uc003wjr.1	+	2	1788	c.275T>A	c.(274-276)ATC>AAC	p.I92N	CHPF2_uc003wjq.1_Missense_Mutation_p.I84N	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1																		---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151049913	151049913	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151049913T>C	uc003wjx.2	+	5	437	c.432T>C	c.(430-432)TTT>TTC	p.F144F	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.F120F|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_5'Flank	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151053219	151053219	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151053219G>T	uc003wjx.2	+	7	681	c.676G>T	c.(676-678)GAG>TAG	p.E226*	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Nonsense_Mutation_p.E202*|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	202	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151716738	151716738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151716738T>C	uc003wkp.2	+	9	1407	c.1184T>C	c.(1183-1185)TTT>TCT	p.F395S	GALNTL5_uc003wkq.2_Missense_Mutation_p.F146S|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.F284S	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	395	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151845492	151845492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151845492T>C	uc003wla.2	-	52	13739	c.13520A>G	c.(13519-13521)AAA>AGA	p.K4507R	MLL3_uc003wkz.2_Missense_Mutation_p.K3625R|MLL3_uc003wkx.2_Missense_Mutation_p.K665R|MLL3_uc003wky.2_Missense_Mutation_p.K2071R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4507					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151859810	151859810	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151859810A>T	uc003wla.2	-	43	11071	c.10852T>A	c.(10852-10854)TCC>ACC	p.S3618T	MLL3_uc003wkz.2_Missense_Mutation_p.S2679T|MLL3_uc003wky.2_Missense_Mutation_p.S1127T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3618					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151864460	151864460	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151864460T>A	uc003wla.2	-	42	9740	c.9521A>T	c.(9520-9522)GAT>GTT	p.D3174V	MLL3_uc003wkz.2_Missense_Mutation_p.D2235V|MLL3_uc003wky.2_Missense_Mutation_p.D683V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3174	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151873608	151873608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151873608G>T	uc003wla.2	-	38	9149	c.8930C>A	c.(8929-8931)TCT>TAT	p.S2977Y	MLL3_uc003wkz.2_Missense_Mutation_p.S2038Y|MLL3_uc003wky.2_Missense_Mutation_p.S486Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2977					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151874681	151874681	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151874681T>C	uc003wla.2	-	38	8076	c.7857A>G	c.(7855-7857)CTA>CTG	p.L2619L	MLL3_uc003wkz.2_Silent_p.L1680L|MLL3_uc003wky.2_Silent_p.L128L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2619	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151917681	151917681	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151960175	151960175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151960175A>G	uc003wla.2	-	9	1444	c.1225T>C	c.(1225-1227)TGT>CGT	p.C409R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	409	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346370	152346370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152346370A>G	uc003wld.2	-	3	286	c.200T>C	c.(199-201)CTT>CCT	p.L67P		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	67					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)									Homologous_recombination					---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154645512	154645512	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154645512G>A	uc003wlk.2	+	17	1818	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	DPP6_uc003wli.2_Silent_p.T499T|DPP6_uc003wlm.2_Silent_p.T501T|DPP6_uc011kvq.1_Silent_p.T456T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	563	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154863077	154863077	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154863077C>T	uc003wlu.1	+	1	532	c.468C>T	c.(466-468)TGC>TGT	p.C156C	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	156	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)														---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094494	155094494	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155094494C>A	uc003wly.2	+	5	953	c.742C>A	c.(742-744)CTC>ATC	p.L248I	INSIG1_uc011kvu.1_Missense_Mutation_p.L96I|INSIG1_uc003wlz.2_Silent_p.G150G	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	248	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156758976	156758976	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156758976G>T	uc003wmy.2	+	8	2061	c.2046G>T	c.(2044-2046)AAG>AAT	p.K682N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	682	MI.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)														---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157009567	157009567	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157009567A>T	uc010lqs.2	+	14	2128	c.1816A>T	c.(1816-1818)ACC>TCC	p.T606S	UBE3C_uc003wng.2_Missense_Mutation_p.T606S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	606					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)														---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157985112	157985112	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157985112T>A	uc003wno.2	-	5	577	c.456A>T	c.(454-456)CGA>CGT	p.R152R	PTPRN2_uc003wnp.2_Silent_p.R135R|PTPRN2_uc003wnq.2_Silent_p.R152R|PTPRN2_uc003wnr.2_Silent_p.R114R|PTPRN2_uc011kwa.1_Silent_p.R175R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158447815	158447815	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158447815T>C	uc003wnv.1	-	21	2786	c.2641A>G	c.(2641-2643)ATC>GTC	p.I881V	NCAPG2_uc010lqu.1_Missense_Mutation_p.I673V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwe.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwc.1_Missense_Mutation_p.I382V|NCAPG2_uc011kwd.1_Missense_Mutation_p.I324V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	881					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158829484	158829484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158829484G>A	uc003woh.2	-	7	893	c.707C>T	c.(706-708)CCC>CTC	p.P236L	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	236	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
ZNF596	169270	broad.mit.edu	37	8	196313	196313	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:196313A>G	uc003wot.2	+	6	1754	c.1466A>G	c.(1465-1467)AAC>AGC	p.N489S	ZNF596_uc003wou.2_Missense_Mutation_p.N388S|ZNF596_uc003wov.2_Missense_Mutation_p.N489S|ZNF596_uc003wow.2_Missense_Mutation_p.N489S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	489	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)														---	---	---	---
C8orf42	157695	broad.mit.edu	37	8	442651	442651	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:442651T>G	uc003wpd.2	-	3	880	c.306A>C	c.(304-306)AAA>AAC	p.K102N	C8orf42_uc011kwg.1_Missense_Mutation_p.K102N	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	102											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)														---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	614628	614628	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:614628A>T	uc003wph.2	-	6	1372	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	436										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497551	1497551	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497551C>T	uc003wpl.2	+	2	789	c.692C>T	c.(691-693)ACG>ATG	p.T231M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497607	1497607	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497607G>A	uc003wpl.2	+	2	845	c.748G>A	c.(748-750)GCG>ACG	p.A250T	DLGAP2_uc003wpm.2_Missense_Mutation_p.A250T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1719553	1719553	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1719553G>A	uc003wpo.3	+	2	638	c.333G>A	c.(331-333)ACG>ACA	p.T111T		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	111	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1828298	1828298	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1828298A>T	uc003wpr.2	+	9	1106	c.928A>T	c.(928-930)ATT>TTT	p.I310F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.I335F|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	335	Potential.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851564	1851564	+	Missense_Mutation	SNP	C	T	T	rs141069028		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851564C>T	uc003wpr.2	+	16	1946	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.R614C|ARHGEF10_uc003wps.2_Missense_Mutation_p.R552C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.R466C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.R323C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R270C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	615					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1877548	1877548	+	Silent	SNP	G	A	A	rs148672492	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1877548G>A	uc003wpr.2	+	25	3196	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T	ARHGEF10_uc003wps.2_Silent_p.T968T|ARHGEF10_uc010lre.2_Silent_p.T657T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1031					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1904934	1904934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1904934C>T	uc003wpr.2	+	29	3718	c.3540C>T	c.(3538-3540)TAC>TAT	p.Y1180Y	ARHGEF10_uc003wps.2_Silent_p.Y1142Y|ARHGEF10_uc010lre.2_Silent_p.Y831Y	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1205					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2005502	2005502	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2005502G>T	uc003wpx.3	+	4	438	c.300G>T	c.(298-300)AAG>AAT	p.K100N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	100					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2037899	2037899	+	Silent	SNP	C	G	G	rs144220288		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2037899C>G	uc003wpx.3	+	15	1851	c.1713C>G	c.(1711-1713)GCC>GCG	p.A571A	MYOM2_uc011kwi.1_5'UTR	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	571	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2056581	2056581	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2056581C>T	uc003wpx.3	+	24	3141	c.3003C>T	c.(3001-3003)CTC>CTT	p.L1001L	MYOM2_uc011kwi.1_Silent_p.L426L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1001	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830724	2830724	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830724A>T	uc011kwk.1	-	57	9231	c.8841T>A	c.(8839-8841)TGT>TGA	p.C2947*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.C2276*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.C957*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2947	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830828	2830828	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830828A>G	uc011kwk.1	-						CSMD1_uc011kwj.1_Intron|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094			CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3038700	3038700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3038700T>C	uc011kwk.1	-	37	6050	c.5660A>G	c.(5659-5661)AAC>AGC	p.N1887S	CSMD1_uc011kwj.1_Missense_Mutation_p.N1279S|CSMD1_uc003wqe.2_Missense_Mutation_p.N1043S|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1887	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087575	3087575	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087575A>G	uc011kwk.1	-	27	4725	c.4335T>C	c.(4333-4335)CCT>CCC	p.P1445P	CSMD1_uc011kwj.1_Silent_p.P837P|CSMD1_uc003wqe.2_Silent_p.P601P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1445	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087584	3087584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087584T>C	uc011kwk.1	-	27	4716	c.4326A>G	c.(4324-4326)CAA>CAG	p.Q1442Q	CSMD1_uc011kwj.1_Silent_p.Q834Q|CSMD1_uc003wqe.2_Silent_p.Q598Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1442	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165968	3165968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3474301	3474301	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3474301G>A	uc011kwk.1	-	8	1418	c.1028C>T	c.(1027-1029)GCA>GTA	p.A343V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	343	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302609	6302609	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302609T>A	uc003wqi.2	+	8	1434	c.1366T>A	c.(1366-1368)TTT>ATT	p.F456I	MCPH1_uc003wqh.2_Missense_Mutation_p.F456I|MCPH1_uc011kwl.1_Missense_Mutation_p.F408I	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	456						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302810	6302810	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302810A>G	uc003wqi.2	+	8	1635	c.1567A>G	c.(1567-1569)AAT>GAT	p.N523D	MCPH1_uc003wqh.2_Missense_Mutation_p.N523D|MCPH1_uc011kwl.1_Missense_Mutation_p.N475D	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	523						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)														---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8185778	8185778	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8185778G>A	uc003wsh.3	-	4	2514	c.2514C>T	c.(2512-2514)CCC>CCT	p.P838P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	838							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234932	8234932	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8234932G>T	uc003wsh.3	-	2	987	c.987C>A	c.(985-987)TCC>TCA	p.S329S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	329							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748972	8748972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8748972A>G	uc003wsj.1	-	1	2160	c.1597T>C	c.(1597-1599)TGC>CGC	p.C533R		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	533	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998972	8998972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998972A>G	uc003wsn.3	-	2	355	c.190T>C	c.(190-192)TCC>CCC	p.S64P	PPP1R3B_uc003wso.3_Missense_Mutation_p.S63P	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	64					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8999110	8999110	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8999110G>A	uc003wsn.3	-	2	217	c.52C>T	c.(52-54)CGC>TGC	p.R18C	PPP1R3B_uc003wso.3_Missense_Mutation_p.R17C	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	18					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9413539	9413539	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9413539A>G	uc003wss.2	+	1	95	c.90A>G	c.(88-90)CCA>CCG	p.P30P	TNKS_uc011kwv.1_Silent_p.P30P|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	30	Poly-Pro.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9622236	9622236	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9622236C>G	uc003wss.2	+	23	3388	c.3383C>G	c.(3382-3384)ACT>AGT	p.T1128S	TNKS_uc011kww.1_Missense_Mutation_p.T891S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1128	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464716	10464716	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10464716G>A	uc003wtc.2	-	4	7121	c.6892C>T	c.(6892-6894)CCT>TCT	p.P2298S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2298					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465537	10465537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10465537T>C	uc003wtc.2	-	4	6300	c.6071A>G	c.(6070-6072)GAG>GGG	p.E2024G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2024					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466551	10466551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466551G>A	uc003wtc.2	-	4	5286	c.5057C>T	c.(5056-5058)GCC>GTC	p.A1686V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1686					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466938	10466938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466938G>A	uc003wtc.2	-	4	4899	c.4670C>T	c.(4669-4671)GCG>GTG	p.A1557V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1557					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468315	10468315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468315C>T	uc003wtc.2	-	4	3522	c.3293G>A	c.(3292-3294)AGC>AAC	p.S1098N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1098					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468389	10468389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468389C>T	uc003wtc.2	-	4	3448	c.3219G>A	c.(3217-3219)CGG>CGA	p.R1073R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10469390	10469390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10469390C>T	uc003wtc.2	-	4	2447	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	740					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470474	10470474	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10470474C>A	uc003wtc.2	-	4	1363	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	378					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
XKR6	286046	broad.mit.edu	37	8	11058241	11058241	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)														---	---	---	---
MTMR9	66036	broad.mit.edu	37	8	11167152	11167152	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11167152A>G	uc003wtm.2	+	6	1324	c.926A>G	c.(925-927)AAA>AGA	p.K309R	MTMR9_uc010lrx.2_Missense_Mutation_p.K202R|MTMR9_uc011kxa.1_Missense_Mutation_p.K224R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	309	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)														---	---	---	---
AMAC1L2	83650	broad.mit.edu	37	8	11189446	11189446	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11189446C>A	uc003wtp.1	+	1	952	c.831C>A	c.(829-831)GCC>GCA	p.A277A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	277	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)														---	---	---	---
BLK	640	broad.mit.edu	37	8	11414274	11414274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11414274G>A	uc003wty.2	+	9	1461	c.880G>A	c.(880-882)GAG>AAG	p.E294K	BLK_uc003wtz.2_Missense_Mutation_p.E223K	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---
DEFB135	613209	broad.mit.edu	37	8	11842018	11842018	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11842018C>T	uc003wuw.1	+	2	153	c.153C>T	c.(151-153)AAC>AAT	p.N51N		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	51					defense response to bacterium	extracellular region					0																		---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12598381	12598381	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12598381A>T	uc003wwd.1	-	3	1026	c.963_splice	c.e3+1	p.K321_splice	LONRF1_uc010lsp.1_Splice_Site	NM_152271	NP_689484			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
C8orf79	57604	broad.mit.edu	37	8	12870187	12870187	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12870187T>G	uc010lsq.2	+						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_5'UTR|C8orf79_uc010lsr.2_5'UTR	NM_020844	NP_065895			hypothetical protein LOC57604 isoform 1								methyltransferase activity				0																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12947943	12947943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12947943T>C	uc003wwm.2	-	15	4336	c.3892A>G	c.(3892-3894)ACC>GCC	p.T1298A	DLC1_uc003wwk.1_Missense_Mutation_p.T861A|DLC1_uc003wwl.1_Missense_Mutation_p.T895A|DLC1_uc011kxx.1_Missense_Mutation_p.T787A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1298					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957440	12957440	+	Silent	SNP	T	G	G	rs17854877		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12957440T>G	uc003wwm.2	-	9	2850	c.2406A>C	c.(2404-2406)CCA>CCC	p.P802P	DLC1_uc003wwk.1_Silent_p.P365P|DLC1_uc003wwl.1_Silent_p.P399P|DLC1_uc011kxx.1_Silent_p.P291P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	802					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357407	13357407	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357407A>G	uc003wwm.2	-	2	618	c.174T>C	c.(172-174)TGT>TGC	p.C58C	DLC1_uc003wwn.2_Silent_p.C58C|DLC1_uc011kxy.1_Silent_p.C58C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	58					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357493	13357493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357493C>A	uc003wwm.2	-	2	532	c.88G>T	c.(88-90)GCA>TCA	p.A30S	DLC1_uc003wwn.2_Missense_Mutation_p.A30S|DLC1_uc011kxy.1_Missense_Mutation_p.A30S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	30					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15480695	15480695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15480695G>A	uc003wwt.2	+	2	455	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	TUSC3_uc003wwr.2_Missense_Mutation_p.R82Q|TUSC3_uc003wws.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwu.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwv.2_Missense_Mutation_p.R82Q|TUSC3_uc003www.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R82Q	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	82					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16935341	16935341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16935341C>T	uc003wxd.2	+	4	659	c.617C>T	c.(616-618)TCG>TTG	p.S206L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	206						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
VPS37A	137492	broad.mit.edu	37	8	17137631	17137631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17137631G>A	uc003wxj.2	+	7	1161	c.808G>A	c.(808-810)GAT>AAT	p.D270N	VPS37A_uc003wxk.2_Missense_Mutation_p.D245N|VPS37A_uc003wxl.2_Missense_Mutation_p.D47N	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	270					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17157398	17157398	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17157398A>G	uc003wxm.2	-	14	2195	c.1956T>C	c.(1954-1956)TCT>TCC	p.S652S	MTMR7_uc011kya.1_Silent_p.S286S|MTMR7_uc011kyb.1_Silent_p.S243S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	652							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17198974	17198974	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17198974G>A	uc003wxm.2	-	6	869	c.630C>T	c.(628-630)TCC>TCT	p.S210S	MTMR7_uc003wxn.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17401121	17401121	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17401121C>T	uc011kyc.1	+	2	442	c.273C>T	c.(271-273)GCC>GCT	p.A91A	SLC7A2_uc011kyd.1_Silent_p.A131A|SLC7A2_uc011kye.1_Silent_p.A131A|SLC7A2_uc011kyf.1_Silent_p.A91A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	91	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17503433	17503433	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17503433T>G	uc003wxv.2	-	15					MTUS1_uc003wxt.2_3'UTR|MTUS1_uc011kyg.1_3'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_3'UTR|MTUS1_uc003wxs.2_3'UTR	NM_001001924	NP_001001924			mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17810589	17810589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17810589C>T	uc003wyi.3	+	9	1604	c.1182C>T	c.(1180-1182)GTC>GTT	p.V394V	PCM1_uc011kyh.1_Silent_p.V394V|PCM1_uc003wyj.3_Silent_p.V394V|PCM1_uc003wyg.2_Silent_p.V394V|PCM1_uc003wyh.2_Silent_p.V433V|PCM1_uc010lta.1_Silent_p.V433V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	394					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
NAT1	9	broad.mit.edu	37	8	18079909	18079909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18079909A>G	uc010ltd.2	+	5	720	c.353A>G	c.(352-354)AAC>AGC	p.N118S	NAT1_uc003wyt.2_Missense_Mutation_p.N180S|NAT1_uc003wyu.2_Missense_Mutation_p.N118S|NAT1_uc003wyv.2_Missense_Mutation_p.N118S|NAT1_uc010ltc.2_Missense_Mutation_p.N118S|NAT1_uc003wys.2_Missense_Mutation_p.N180S|NAT1_uc003wyr.2_Missense_Mutation_p.N118S|NAT1_uc003wyq.2_Missense_Mutation_p.N118S|NAT1_uc011kyl.1_Missense_Mutation_p.N118S	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	118					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)														---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19276160	19276160	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19276160T>C	uc011kyn.1	-						CSGALNACT1_uc011kyo.1_Intron|CSGALNACT1_uc003wzg.2_Intron|CSGALNACT1_uc011kyp.1_Intron	NM_001130518	NP_001123990			chondroitin sulfate						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19681411	19681411	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19681411C>T	uc003wzj.2	+	7	823	c.692C>T	c.(691-693)TCA>TTA	p.S231L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	231					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19690705	19690705	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19690705G>A	uc003wzj.2	+	12	1534	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	468					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20074720	20074720	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20074720T>C	uc003wzp.2	+						ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684			vacuolar H+ATPase B2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110461	20110461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)														---	---	---	---
FGF17	8822	broad.mit.edu	37	8	21903733	21903733	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21903733A>G	uc003xag.2	+	3	193	c.181A>G	c.(181-183)ACC>GCC	p.T61A	FGF17_uc003xah.2_Missense_Mutation_p.T50A|FGF17_uc003xai.2_Missense_Mutation_p.T84A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	61					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)														---	---	---	---
EPB49	2039	broad.mit.edu	37	8	21926583	21926583	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21926583C>A	uc011kyt.1	+						EPB49_uc010ltl.2_Intron|EPB49_uc011kys.1_Intron|EPB49_uc010ltn.2_Intron|EPB49_uc011kyu.1_Intron|EPB49_uc011kyv.1_Intron|EPB49_uc010ltq.2_Intron	NM_001114136	NP_001107608			erythrocyte membrane protein band 4.9 isoform 1						actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976568	21976568	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976568T>G	uc003xas.2	-	16	3773	c.3108A>C	c.(3106-3108)TCA>TCC	p.S1036S	HR_uc003xat.2_Silent_p.S1036S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1036	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976797	21976797	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976797C>T	uc003xas.2	-	15	3643	c.2978_splice	c.e15-1	p.G993_splice	HR_uc003xat.2_Splice_Site_p.G993_splice	NM_005144	NP_005135			hairless protein isoform a								DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996041	21996041	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996041G>A	uc003xau.1	-	8	1186	c.733C>T	c.(733-735)CGG>TGG	p.R245W	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	245						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)												OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996183	21996183	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996183C>T	uc003xau.1	-	7	1130	c.677G>A	c.(676-678)CGT>CAT	p.R226H	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	226						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22006022	22006022	+	Missense_Mutation	SNP	C	T	T	rs113893603	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22006022C>T	uc003xav.2	-	8	1587	c.1298G>A	c.(1297-1299)CGC>CAC	p.R433H	LGI3_uc010ltu.2_Missense_Mutation_p.R409H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	433	EAR 5.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22012934	22012934	+	Silent	SNP	C	T	T	rs142850097		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22012934C>T	uc003xav.2	-	2	538	c.249G>A	c.(247-249)GCG>GCA	p.A83A	LGI3_uc010ltu.2_Silent_p.A83A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	83					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22105428	22105428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22105428C>T	uc003xbl.2	+	4	351	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Nonsense_Mutation_p.R90*|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	90					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22137081	22137081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22137081G>A	uc003xbn.2	+	2	330	c.182G>A	c.(181-183)AGG>AAG	p.R61K	PIWIL2_uc011kzf.1_Missense_Mutation_p.R61K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R61K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	61					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22163529	22163529	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22163529G>T	uc003xbn.2	+	13	1693	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	PIWIL2_uc011kzf.1_Missense_Mutation_p.K515N|PIWIL2_uc010ltv.2_Missense_Mutation_p.K515N	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	515					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22262401	22262401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22262401C>T	uc003xbq.3	+	2	353	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	SLC39A14_uc011kzg.1_Nonsense_Mutation_p.Q60*|SLC39A14_uc003xbp.3_Nonsense_Mutation_p.Q60*|SLC39A14_uc011kzh.1_Nonsense_Mutation_p.Q60*	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	60	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)														---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22864590	22864590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22864590A>G	uc003xcq.2	+	5	1369	c.832A>G	c.(832-834)ATC>GTC	p.I278V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I300V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I285V|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	278	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
TNFRSF10B	8795	broad.mit.edu	37	8	22881771	22881771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22881771T>A	uc003xcu.2	-	8	1232	c.939A>T	c.(937-939)GAA>GAT	p.E313D	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E78D|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E284D|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E133D|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E211D	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	313	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)														---	---	---	---
TNFRSF10C	8794	broad.mit.edu	37	8	22969324	22969324	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22969324A>G	uc003xcy.2	+	2	353	c.152A>G	c.(151-153)GAG>GGG	p.E51G	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	51	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23155621	23155621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23155621C>T	uc003xdh.1	-	14	2599	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	LOXL2_uc010lty.1_Silent_p.A255A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23167310	23167310	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23167310G>A	uc003xdh.1	-	10	2090	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	LOXL2_uc010lty.1_Missense_Mutation_p.A123V	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	584	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23177441	23177441	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23177441A>G	uc003xdh.1	-	8	1766	c.1427T>C	c.(1426-1428)GTC>GCC	p.V476A	LOXL2_uc010lty.1_Missense_Mutation_p.V15A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	476	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23198524	23198524	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23198524A>G	uc003xdh.1	-	4	1063	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	uc003xdj.2_Intron|uc003xdi.2_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	242	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23538760	23538760	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23538760C>G	uc011kzx.1	-	2	727	c.679G>C	c.(679-681)GGC>CGC	p.G227R	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	227					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)														---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24200626	24200626	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24200626G>A	uc003xdy.2	+	17	1926	c.1843G>A	c.(1843-1845)GCA>ACA	p.A615T	ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.A302T	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	615	Extracellular (Potential).|Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)														---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24356804	24356804	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24356804G>A	uc003xeb.2	+	17	2011	c.1898G>A	c.(1897-1899)TGC>TAC	p.C633Y	ADAM7_uc003xec.2_Missense_Mutation_p.C405Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	633	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771921	24771921	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771921G>A	uc003xed.3	+	1	648	c.615G>A	c.(613-615)GCG>GCA	p.A205A	NEFM_uc011lac.1_Silent_p.A205A|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.S49S	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	205	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24772257	24772257	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24772257C>T	uc003xed.3	+	1	984	c.951C>T	c.(949-951)ATC>ATT	p.I317I	NEFM_uc011lac.1_Silent_p.I317I|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	317	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24775961	24775961	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24775961G>T	uc003xed.3	+	3	2626	c.2593G>T	c.(2593-2595)GGG>TGG	p.G865W	NEFM_uc011lac.1_Missense_Mutation_p.G647W|NEFM_uc010lue.2_Missense_Mutation_p.G489W	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	865	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25203086	25203086	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25203086C>A	uc003xeg.2	+	26	2850	c.2713C>A	c.(2713-2715)CTT>ATT	p.L905I	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L619I|DOCK5_uc003xei.2_Missense_Mutation_p.L475I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	905						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25293964	25293964	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25293964T>C	uc003xeo.2	-	7	695	c.537A>G	c.(535-537)TCA>TCG	p.S179S	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25317936	25317936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25317936T>C	uc003xep.1	+	3	577	c.98T>C	c.(97-99)GTG>GCG	p.V33A	PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.V33A|CDCA2_uc003xeq.1_Missense_Mutation_p.V18A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	33					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25718615	25718615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25718615C>T	uc003xes.1	-	13	1309	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26220238	26220238	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26220238A>C	uc003xeu.2	+	7	978	c.676A>C	c.(676-678)ACA>CCA	p.T226P	PPP2R2A_uc003xek.2_Missense_Mutation_p.T227P|PPP2R2A_uc011laf.1_Missense_Mutation_p.T236P	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	226	WD 4.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26227921	26227921	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26227921G>A	uc003xeu.2	+	10	1638	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	PPP2R2A_uc003xek.2_Missense_Mutation_p.V447M|PPP2R2A_uc011laf.1_Missense_Mutation_p.V456M	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	446	WD 7.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722496	26722496	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26722496C>T	uc003xfh.1	-	1					ADRA1A_uc003xfc.1_5'UTR|ADRA1A_uc010lul.1_5'UTR|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_5'UTR|ADRA1A_uc010lum.1_5'UTR|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_5'UTR	NM_000680	NP_000671			alpha-1A-adrenergic receptor isoform 1						activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---
STMN4	81551	broad.mit.edu	37	8	27097663	27097663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27097663A>G	uc003xfk.2	-	5	449	c.335T>C	c.(334-336)CTC>CCC	p.L112P	STMN4_uc003xfj.2_Missense_Mutation_p.L139P|STMN4_uc011lai.1_Missense_Mutation_p.L139P|STMN4_uc011laj.1_Missense_Mutation_p.L103P|STMN4_uc011lak.1_Missense_Mutation_p.L139P|STMN4_uc010luo.2_Missense_Mutation_p.L112P			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	112	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)														---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27255114	27255114	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27255114T>A	uc003xfn.1	+	7	821	c.13T>A	c.(13-15)TCC>ACC	p.S5T	PTK2B_uc003xfo.1_Missense_Mutation_p.S5T|PTK2B_uc003xfp.1_Missense_Mutation_p.S5T|PTK2B_uc003xfq.1_Missense_Mutation_p.S5T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27382949	27382949	+	Missense_Mutation	SNP	G	A	A	rs148677997		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27382949G>A	uc003xfu.2	+	12	1210	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EPHX2_uc010lut.1_Missense_Mutation_p.A377T|EPHX2_uc010luu.2_Missense_Mutation_p.A345T|EPHX2_uc010luv.2_Missense_Mutation_p.A311T|EPHX2_uc003xfv.2_Missense_Mutation_p.A324T|EPHX2_uc010luw.2_Missense_Mutation_p.A311T	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	377	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
CLU	1191	broad.mit.edu	37	8	27457490	27457490	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27457490C>T	uc003xfw.1	-	6	1029	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	CLU_uc010lux.1_Missense_Mutation_p.R189Q|CLU_uc003xfx.1_Missense_Mutation_p.R324Q|CLU_uc003xfy.1_Missense_Mutation_p.R335Q|CLU_uc003xfz.1_Missense_Mutation_p.R376Q	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	324					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)														---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516928	27516928	+	Missense_Mutation	SNP	G	A	A	rs142551514		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27516928G>A	uc003xga.1	+	5	1382	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R414Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	414	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)														---	---	---	---
CCDC25	55246	broad.mit.edu	37	8	27606083	27606083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27606083T>C	uc003xgc.2	-	6	390	c.277A>G	c.(277-279)ACG>GCG	p.T93A	CCDC25_uc003xgd.2_Missense_Mutation_p.T25A|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	93											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)														---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27650265	27650265	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27650265T>C	uc003xgg.2	+	9	1517	c.1434T>C	c.(1432-1434)ACT>ACC	p.T478T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	478					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)										SC_Phocomelia_syndrome				---	---	---	---
PBK	55872	broad.mit.edu	37	8	27680702	27680702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27680702T>C	uc003xgi.2	-	4	374	c.173A>G	c.(172-174)CAT>CGT	p.H58R	PBK_uc011lap.1_Missense_Mutation_p.H58R	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	58	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737078	27737078	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737078C>T	uc003xgj.2	-						SCARA5_uc010luz.2_Intron	NM_173833	NP_776194			scavenger receptor class A, member 5						cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737144	27737144	+	Silent	SNP	G	A	A	rs138986901	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737144G>A	uc003xgj.2	-	8	1733	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SCARA5_uc010luz.2_Silent_p.C206C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	431	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27764677	27764677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27764677G>A	uc003xgj.2	-	6	1524	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	SCARA5_uc010luz.2_Missense_Mutation_p.R137C|SCARA5_uc003xgk.2_Missense_Mutation_p.R319C|SCARA5_uc003xgl.2_Missense_Mutation_p.R362C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28017959	28017959	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28017959A>G	uc003xgo.3	+	13	1619	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ELP3_uc003xgn.3_Missense_Mutation_p.K476E|ELP3_uc011laq.1_Missense_Mutation_p.K419E|ELP3_uc011lar.1_Missense_Mutation_p.K399E|ELP3_uc011las.1_Missense_Mutation_p.K372E|ELP3_uc011lat.1_Missense_Mutation_p.K372E	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	491	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28019591	28019591	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28019591A>G	uc003xgo.3	+	14	1711	c.1563A>G	c.(1561-1563)ATA>ATG	p.I521M	ELP3_uc003xgn.3_Missense_Mutation_p.I506M|ELP3_uc011laq.1_Missense_Mutation_p.I449M|ELP3_uc011lar.1_Missense_Mutation_p.I429M|ELP3_uc011las.1_Missense_Mutation_p.I402M|ELP3_uc011lat.1_Missense_Mutation_p.I402M	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	521	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210108	28210108	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210108A>T	uc003xgq.2	-	6	990	c.902T>A	c.(901-903)GTC>GAC	p.V301D	ZNF395_uc003xgt.2_Missense_Mutation_p.V301D|ZNF395_uc003xgr.2_Missense_Mutation_p.V301D|ZNF395_uc003xgs.2_Missense_Mutation_p.V301D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	301	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210168	28210168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210168T>C	uc003xgq.2	-	6	930	c.842A>G	c.(841-843)AAG>AGG	p.K281R	ZNF395_uc003xgt.2_Missense_Mutation_p.K281R|ZNF395_uc003xgr.2_Missense_Mutation_p.K281R|ZNF395_uc003xgs.2_Missense_Mutation_p.K281R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	281	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28413243	28413243	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28413243T>C	uc003xgx.2	+						FZD3_uc010lvb.2_Intron	NM_017412	NP_059108			frizzled 3 precursor						canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)														---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28608394	28608394	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28608394C>T	uc003xgz.1	+	7						NM_001440	NP_001431			exostoses-like 3							integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)														---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28625833	28625833	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28625833A>G	uc003xha.2	-	17	2106	c.1807T>C	c.(1807-1809)TTC>CTC	p.F603L	INTS9_uc011lav.1_Missense_Mutation_p.F579L|INTS9_uc011law.1_Missense_Mutation_p.F582L|INTS9_uc011lax.1_Missense_Mutation_p.F496L|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	603					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)														---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29025093	29025093	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29025093C>T	uc003xhh.3	-	11	1014	c.955G>A	c.(955-957)GGG>AGG	p.G319R	KIF13B_uc003xhj.2_Missense_Mutation_p.G216R|KIF13B_uc010lvf.1_Missense_Mutation_p.G255R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	319					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)														---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30416475	30416475	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30416475T>C	uc003xic.1	+	7	1263	c.598_splice	c.e7+2		RBPMS_uc003xid.1_Splice_Site|RBPMS_uc003xie.1_Splice_Site|RBPMS_uc003xif.1_Splice_Site	NM_006867	NP_006858			RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30436555	30436555	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30436555C>A	uc003xig.2	-							NM_002095	NP_002086			general transcription factor IIE, polypeptide 2,						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30510971	30510971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30510971A>G	uc003xig.2	-	2	398	c.145T>C	c.(145-147)TCA>CCA	p.S49P		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	49					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695219	30695219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30695219G>A	uc003xil.2	-	3	7432	c.7432C>T	c.(7432-7434)CAG>TAG	p.Q2478*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2478										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701846	30701846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30701846T>C	uc003xil.2	-	1	4688	c.4688A>G	c.(4687-4689)TAT>TGT	p.Y1563C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1563										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702154	30702154	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30702154T>C	uc003xil.2	-	1	4380	c.4380A>G	c.(4378-4380)ATA>ATG	p.I1460M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1460										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703082	30703082	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30703082T>C	uc003xil.2	-	1	3452	c.3452A>G	c.(3451-3453)TAT>TGT	p.Y1151C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1151	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704392	30704392	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704392C>A	uc003xil.2	-	1	2142	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	714										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704541	30704541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704541C>T	uc003xil.2	-	1	1993	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	665										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704620	30704620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704620T>C	uc003xil.2	-	1	1914	c.1914A>G	c.(1912-1914)TTA>TTG	p.L638L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	638										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
PURG	29942	broad.mit.edu	37	8	30889514	30889514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30889514G>A	uc003xin.2	-	1	804	c.785C>T	c.(784-786)CCA>CTA	p.P262L	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.P262L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	262	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)														---	---	---	---
WRN	7486	broad.mit.edu	37	8	30933738	30933738	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30933738T>C	uc003xio.3	+	8	1562	c.774T>C	c.(772-774)TCT>TCC	p.S258S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	258	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
WRN	7486	broad.mit.edu	37	8	31007893	31007893	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31007893T>G	uc003xio.3	+	31	4397	c.3609T>G	c.(3607-3609)GGT>GGG	p.G1203G	WRN_uc010lvk.2_Silent_p.G670G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1203	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32600216	32600216	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32600216A>G	uc003xiv.2	+						NRG1_uc003xip.2_Missense_Mutation_p.D400G|NRG1_uc010lvn.2_Missense_Mutation_p.D185G|NRG1_uc003xis.2_Missense_Mutation_p.D219G|NRG1_uc011lbf.1_Missense_Mutation_p.D219G|NRG1_uc010lvo.2_Missense_Mutation_p.D219G|NRG1_uc003xiu.2_Missense_Mutation_p.D219G|NRG1_uc003xiw.2_Missense_Mutation_p.D219G|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Missense_Mutation_p.D168G|NRG1_uc010lvq.2_Missense_Mutation_p.D151G|NRG1_uc003xix.2_Missense_Mutation_p.I132V|NRG1_uc003xiy.2_Missense_Mutation_p.D274G|NRG1_uc010lvt.2_Missense_Mutation_p.I231V|NRG1_uc011lbg.1_Intron|NRG1_uc011lbh.1_Missense_Mutation_p.D65G|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Intron	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621679	32621679	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32621679A>C	uc003xiv.2	+	12	2199	c.1682A>C	c.(1681-1683)GAA>GCA	p.E561A	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.E566A|NRG1_uc003xiw.2_Missense_Mutation_p.E558A|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.E303A|NRG1_uc010lvs.2_Missense_Mutation_p.E303A|NRG1_uc010lvp.2_Missense_Mutation_p.E515A|NRG1_uc010lvq.2_Missense_Mutation_p.E498A|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.E404A|NRG1_uc003xja.2_Missense_Mutation_p.E372A	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	561	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33246847	33246847	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33246847A>G	uc003xje.2	-	4	1202	c.846T>C	c.(844-846)AAT>AAC	p.N282N	FUT10_uc003xjc.2_Silent_p.N289N|FUT10_uc003xjd.2_Silent_p.N254N|FUT10_uc011lbi.1_Silent_p.N332N|FUT10_uc003xjf.2_Silent_p.N220N|FUT10_uc003xjg.2_Silent_p.N254N|FUT10_uc003xjh.2_Silent_p.N282N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	282	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)														---	---	---	---
MAK16	84549	broad.mit.edu	37	8	33346248	33346248	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33346248T>A	uc003xjj.2	+						C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898			MAK16 homolog							nucleolus				ovary(1)	1																		---	---	---	---
C8orf41	80185	broad.mit.edu	37	8	33369888	33369888	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33369888G>T	uc003xjl.3	-	1	769	c.244C>A	c.(244-246)CTG>ATG	p.L82M	C8orf41_uc003xjk.3_Missense_Mutation_p.L82M|C8orf41_uc010lvv.2_Missense_Mutation_p.L82M|C8orf41_uc003xjm.3_Missense_Mutation_p.L82M|C8orf41_uc003xjn.1_Missense_Mutation_p.L82M	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	82							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36644837	36644837	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36644837C>T	uc010lvw.2	+	2	296	c.209C>T	c.(208-210)TCA>TTA	p.S70L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	70	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36746729	36746729	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36746729T>G	uc003xjw.2	+						KCNU1_uc010lvw.2_Intron|uc003xjx.2_3'UTR					Homo sapiens cDNA FLJ50072 complete cds, moderately similar to Mus musculus potassium channel, subfamily U, member 1 (Kcnu1), mRNA.							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37556065	37556065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37556065G>A	uc003xjy.1	+	2	1843	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	549					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)															---	---	---	---
BRF2	55290	broad.mit.edu	37	8	37704490	37704490	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37704490T>G	uc003xkk.2	-	3	528	c.418A>C	c.(418-420)ACG>CCG	p.T140P		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	140	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37729405	37729405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37729405A>T	uc003xkm.1	-	4	2959	c.2915T>A	c.(2914-2916)ATA>AAA	p.I972K	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xko.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	972					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37734665	37734665	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37734665T>A	uc003xkm.1	-	2	820	c.776A>T	c.(775-777)GAA>GTA	p.E259V	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.E107V|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.E259V|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.E107V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	259					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37964605	37964605	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37964605C>T	uc003xkt.3	+	3	380	c.322C>T	c.(322-324)CGA>TGA	p.R108*	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Nonsense_Mutation_p.R14*|ASH2L_uc010lwa.2_Nonsense_Mutation_p.R14*	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	108					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)																---	---	---	---
STAR	6770	broad.mit.edu	37	8	38005720	38005720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38005720G>A	uc003xkv.1	-	3	568	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	STAR_uc010lwc.1_Nonsense_Mutation_p.Q64*	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	102	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)														---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38103772	38103772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38103772T>A	uc003xlb.2	+	9	1456	c.1079T>A	c.(1078-1080)ATC>AAC	p.I360N	DDHD2_uc003xlc.2_Missense_Mutation_p.I360N|DDHD2_uc011lbl.1_Missense_Mutation_p.I172N|DDHD2_uc003xld.2_5'Flank	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	360					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)															---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205606	38205606	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38205606G>A	uc003xli.2	-	2	602	c.84C>T	c.(82-84)ATC>ATT	p.I28I	WHSC1L1_uc011lbm.1_Silent_p.I28I|WHSC1L1_uc010lwe.2_Silent_p.I28I|WHSC1L1_uc003xlj.2_Silent_p.I28I	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	28					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38264558	38264558	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38264558T>C	uc003xlm.1	+	9	1341	c.1170_splice	c.e9+2	p.K390_splice	LETM2_uc003xll.1_Splice_Site_p.K342_splice|LETM2_uc003xln.1_Splice_Site_p.K234_splice|LETM2_uc003xlo.1_Splice_Site_p.K234_splice	NM_144652	NP_653253			leucine zipper-EF-hand containing transmembrane							integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)															---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38279324	38279324	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38279324C>T	uc003xlp.2	-	8	2014	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	FGFR1_uc011lbo.1_Missense_Mutation_p.V356I|FGFR1_uc011lbp.1_Missense_Mutation_p.V269I|FGFR1_uc011lbq.1_Missense_Mutation_p.V267I|FGFR1_uc010lwk.2_Missense_Mutation_p.V350I|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V198I|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V389I|FGFR1_uc011lbv.1_Missense_Mutation_p.V356I|FGFR1_uc011lbw.1_Missense_Mutation_p.V269I|FGFR1_uc011lbx.1_Missense_Mutation_p.V269I	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	358	Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38282024	38282024	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38282024T>C	uc003xlp.2	-						FGFR1_uc011lbo.1_Intron|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Intron|FGFR1_uc011lbr.1_Intron|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Intron|FGFR1_uc011lbv.1_Intron|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Silent_p.V224V|FGFR1_uc003xlu.2_Silent_p.V222V	NM_023110	NP_075598			fibroblast growth factor receptor 1 isoform 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38911996	38911996	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38911996A>T	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495122	39495122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39495122A>T	uc003xni.2	+	9	727	c.727A>T	c.(727-729)ATT>TTT	p.I243F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.I219F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	243	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525578	39525578	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39525578A>T	uc003xni.2	+	14	1388	c.1388A>T	c.(1387-1389)TAC>TTC	p.Y463F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y439F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	463	Disintegrin.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39644522	39644522	+	Missense_Mutation	SNP	C	T	T	rs1059133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39644522C>T	uc003xnj.2	-	10	937	c.862G>A	c.(862-864)GAT>AAT	p.D288N	ADAM2_uc003xnk.2_Missense_Mutation_p.D269N|ADAM2_uc011lck.1_Missense_Mutation_p.D288N|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	288	Extracellular (Potential).|Peptidase M12B.			D -> H (in Ref. 1; AAC51110).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41122885	41122885	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41122885T>C	uc003xnt.2	-	3	1048	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	249	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41355108	41355108	+	Silent	SNP	A	G	G	rs149099838		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41355108A>G	uc003xnu.2	+	3	270	c.192A>G	c.(190-192)TCA>TCG	p.S64S	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.S64S	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	64						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41363518	41363518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41363518G>A	uc003xnu.2	+	4	431	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Missense_Mutation_p.R118Q	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	118						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
AGPAT6	137964	broad.mit.edu	37	8	41469463	41469463	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41469463A>G	uc003xnz.2	+	6	1592	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	218					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41577192	41577192	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41577192T>G	uc003xok.2	-	10	1178	c.1094A>C	c.(1093-1095)AAC>ACC	p.N365T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.N365T|ANK1_uc003xoj.2_Missense_Mutation_p.N365T|ANK1_uc003xol.2_Missense_Mutation_p.N365T|ANK1_uc003xom.2_Missense_Mutation_p.N398T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	365	ANK 10.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581066	41581066	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581066T>C	uc003xok.2	-	8	881	c.797A>G	c.(796-798)GAA>GGA	p.E266G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E266G|ANK1_uc003xoj.2_Missense_Mutation_p.E266G|ANK1_uc003xol.2_Missense_Mutation_p.E266G|ANK1_uc003xom.2_Missense_Mutation_p.E299G	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	266	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581127	41581127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581127C>T	uc003xok.2	-	8	820	c.736G>A	c.(736-738)GCC>ACC	p.A246T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A246T|ANK1_uc003xoj.2_Missense_Mutation_p.A246T|ANK1_uc003xol.2_Missense_Mutation_p.A246T|ANK1_uc003xom.2_Missense_Mutation_p.A279T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	246	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42019935	42019935	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42019935A>T	uc003xop.2	+	5	873	c.582A>T	c.(580-582)TCA>TCT	p.S194S	AP3M2_uc003xoo.2_Silent_p.S194S|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.S79S|AP3M2_uc003xor.1_Silent_p.S194S	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	194	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42023011	42023011	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42023011C>T	uc003xop.2	+	7	1027	c.736C>T	c.(736-738)CGC>TGC	p.R246C	AP3M2_uc003xoo.2_Missense_Mutation_p.R246C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R131C|AP3M2_uc003xor.1_Missense_Mutation_p.R246C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	246	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42025322	42025322	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42025322A>G	uc003xop.2	+	9	1441	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	AP3M2_uc003xoo.2_Missense_Mutation_p.I384V|AP3M2_uc010lxe.2_RNA	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	384	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
C8orf40	114926	broad.mit.edu	37	8	42401751	42401751	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42401751T>C	uc011lcv.1	+	2	183	c.134_splice	c.e2+2	p.R45_splice	C8orf40_uc003xph.2_Splice_Site_p.R45_splice|C8orf40_uc003xpg.2_Splice_Site_p.R45_splice|C8orf40_uc010lxo.2_Splice_Site_p.R45_splice	NM_001135676	NP_001129148			hypothetical protein LOC114926							cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42924694	42924694	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42924694C>A	uc003xps.2	+						FNTA_uc003xpt.2_Intron|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_Intron	NM_002027	NP_002018			farnesyltransferase, CAAX box, alpha isoform a						cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42932477	42932477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42932477A>G	uc003xps.2	+	6	800	c.752A>G	c.(751-753)AAT>AGT	p.N251S	FNTA_uc003xpt.2_Missense_Mutation_p.N160S|FNTA_uc003xpu.2_Missense_Mutation_p.N184S|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	251					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
SGK196	84197	broad.mit.edu	37	8	42977574	42977574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42977574T>A	uc003xpw.2	+	5	866	c.607T>A	c.(607-609)TGC>AGC	p.C203S		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	203	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0																		---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147761	43147761	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43147761C>A	uc003xpz.1	+	1	177	c.134C>A	c.(133-135)GCT>GAT	p.A45D	POTEA_uc003xqa.1_Missense_Mutation_p.A45D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	45										ovary(1)	1																		---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48309037	48309037	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48309037C>T	uc003xqd.2	+	6	636	c.627C>T	c.(625-627)CAC>CAT	p.H209H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.H209H|KIAA0146_uc010lxs.2_Translation_Start_Site|KIAA0146_uc011ldc.1_Silent_p.H139H|KIAA0146_uc011ldd.1_Silent_p.H149H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	209											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48613001	48613001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48613001G>A	uc003xqd.2	+	12	1731	c.1722G>A	c.(1720-1722)TGG>TGA	p.W574*	KIAA0146_uc011ldb.1_Nonsense_Mutation_p.W574*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.W49*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.W504*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.W514*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.W49*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.W263*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.W263*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.W79*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.W64*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.W68*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	574											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48647993	48647993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48647993G>A	uc003xqd.2	+	20	2738	c.2729G>A	c.(2728-2730)GGG>GAG	p.G910E	KIAA0146_uc011ldc.1_Missense_Mutation_p.G840E|KIAA0146_uc011ldd.1_Silent_p.R850R|KIAA0146_uc003xqe.2_Missense_Mutation_p.G385E|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Missense_Mutation_p.G415E|KIAA0146_uc011ldg.1_Missense_Mutation_p.G400E|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	910											0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48689516	48689516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48689516C>T	uc003xqi.2	-	86	12128	c.12071G>A	c.(12070-12072)GGA>GAA	p.G4024E	PRKDC_uc003xqj.2_Missense_Mutation_p.G3993E|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	4024					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48748958	48748958	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48748958A>G	uc003xqi.2	-	59	7949	c.7892T>C	c.(7891-7893)GTG>GCG	p.V2631A	PRKDC_uc003xqj.2_Missense_Mutation_p.V2631A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2631	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49643102	49643102	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49643102T>C	uc003xqo.2	-	3	476	c.316A>G	c.(316-318)AAA>GAA	p.K106E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.K54E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	106	EF-hand 2.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)																---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832964	49832964	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49832964A>G	uc003xqp.2	-	2	280	c.116T>C	c.(115-117)ATG>ACG	p.M39T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	39					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51415351	51415351	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51415351G>T	uc010lxy.1	+	10	748	c.377G>T	c.(376-378)CGG>CTG	p.R126L	SNTG1_uc003xqs.1_Missense_Mutation_p.R126L|SNTG1_uc010lxz.1_Missense_Mutation_p.R126L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321321	52321321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321321G>T	uc003xqu.3	-	17	2964	c.2863C>A	c.(2863-2865)CTG>ATG	p.L955M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	955					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321557	52321557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321906	52321906	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321906C>T	uc003xqu.3	-	17	2379	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	760					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53077746	53077746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53077746G>A	uc003xqz.2	-	7	1400	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L	ST18_uc011ldq.1_Missense_Mutation_p.P62L|ST18_uc011ldr.1_Missense_Mutation_p.P380L|ST18_uc011lds.1_Missense_Mutation_p.P320L|ST18_uc003xra.2_Missense_Mutation_p.P415L|ST18_uc003xrb.2_Missense_Mutation_p.P415L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	415	C2HC-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084434	53084434	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084434C>A	uc003xqz.2	-	5	1143	c.987G>T	c.(985-987)AGG>AGT	p.R329S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R294S|ST18_uc011lds.1_Missense_Mutation_p.R234S|ST18_uc003xra.2_Missense_Mutation_p.R329S|ST18_uc003xrb.2_Missense_Mutation_p.R329S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	329						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084924	53084924	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084924T>A	uc003xqz.2	-	5	653	c.497A>T	c.(496-498)GAG>GTG	p.E166V	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E131V|ST18_uc011lds.1_Missense_Mutation_p.E71V|ST18_uc003xra.2_Missense_Mutation_p.E166V|ST18_uc003xrb.2_Missense_Mutation_p.E166V	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53569953	53569953	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53569953T>A	uc003xre.3	-	15	2994	c.2436A>T	c.(2434-2436)ATA>ATT	p.I812I	RB1CC1_uc003xrf.3_Silent_p.I812I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	812					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53853261	53853261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53853261C>T	uc011ldu.1	+	1	794	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	265	Helical; Name=6; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)																---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142295	54142295	+	Silent	SNP	G	A	A	rs112014812	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54142295G>A	uc003xrh.1	-	3	1080	c.705C>T	c.(703-705)TTC>TTT	p.F235F	OPRK1_uc003xri.1_Silent_p.F235F|OPRK1_uc010lyc.1_Silent_p.F146F	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	235	Helical; Name=5; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54163422	54163422	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54163422G>A	uc003xrh.1	-	1	551	c.176C>T	c.(175-177)CCG>CTG	p.P59L	OPRK1_uc003xri.1_Missense_Mutation_p.P59L|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	59	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708210	54708210	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708210A>G	uc003xrl.2	-	9	1019	c.867T>C	c.(865-867)TTT>TTC	p.F289F	ATP6V1H_uc003xrk.2_Silent_p.F249F|ATP6V1H_uc003xrm.2_Silent_p.F289F|ATP6V1H_uc003xrn.2_Silent_p.F271F|ATP6V1H_uc011ldv.1_Silent_p.F209F|ATP6V1H_uc010lyd.2_Silent_p.F225F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	289					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708265	54708265	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708265T>A	uc003xrl.2	-	9	964	c.812A>T	c.(811-813)GAT>GTT	p.D271V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D231V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D271V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D253V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D191V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D207V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	271					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708289	54708289	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708289T>C	uc003xrl.2	-	9	940	c.788A>G	c.(787-789)TAT>TGT	p.Y263C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.Y223C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Y263C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Y245C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Y183C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Y199C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	263					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
TCEA1	6917	broad.mit.edu	37	8	54891698	54891698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54891698T>C	uc003xru.2	-	8	1035	c.712A>G	c.(712-714)AAA>GAA	p.K238E	TCEA1_uc003xrv.2_Missense_Mutation_p.K217E|TCEA1_uc011ldw.1_Missense_Mutation_p.K54E|TCEA1_uc010lyg.2_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	238	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)					T	PLAG1	salivary adenoma								---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534073	55534073	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534073T>C	uc003xsd.1	+	2	695	c.547T>C	c.(547-549)TTT>CTT	p.F183L	RP1_uc011ldy.1_Missense_Mutation_p.F183L	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	183	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534123	55534123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534123C>T	uc003xsd.1	+	2	745	c.597C>T	c.(595-597)TAC>TAT	p.Y199Y	RP1_uc011ldy.1_Silent_p.Y199Y	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56015541	56015541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56015541C>T	uc003xsf.2	+	1	525	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	165						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)															---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56698458	56698458	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56698458T>A	uc003xsj.3	+						TGS1_uc010lyh.2_Intron	NM_024831	NP_079107			trimethylguanosine synthase homolog						cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863306	56863306	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56863306T>C	uc003xsk.3	+	6	732	c.450T>C	c.(448-450)GCT>GCC	p.A150A	LYN_uc003xsl.3_Silent_p.A129A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	150	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56910922	56910922	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56910922A>T	uc003xsk.3	+	11	1350	c.1068A>T	c.(1066-1068)GCA>GCT	p.A356A	LYN_uc003xsl.3_Silent_p.A335A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	356	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56922616	56922616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56922616G>A	uc003xsk.3	+	13	1768	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	LYN_uc003xsl.3_Missense_Mutation_p.V475I	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	496	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
MOS	4342	broad.mit.edu	37	8	57026295	57026295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57026295G>A	uc011leb.1	-	1	247	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	83	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)															---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079567	57079567	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079567T>G	uc003xsq.3	-	3	1189	c.738A>C	c.(736-738)GAA>GAC	p.E246D	PLAG1_uc003xsr.3_Missense_Mutation_p.E246D|PLAG1_uc010lyi.2_Missense_Mutation_p.E246D|PLAG1_uc010lyj.2_Missense_Mutation_p.E164D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	246	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079616	57079616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079616C>T	uc003xsq.3	-	3	1140	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	PLAG1_uc003xsr.3_Missense_Mutation_p.R230Q|PLAG1_uc010lyi.2_Missense_Mutation_p.R230Q|PLAG1_uc010lyj.2_Missense_Mutation_p.R148Q	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
CHCHD7	79145	broad.mit.edu	37	8	57129004	57129004	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57129004T>C	uc003xsx.2	+	3	165	c.67T>C	c.(67-69)TCC>CCC	p.S23P	CHCHD7_uc003xss.2_Silent_p.L49L|CHCHD7_uc003xst.2_Silent_p.L62L|CHCHD7_uc003xsu.2_Missense_Mutation_p.S35P|CHCHD7_uc003xsv.2_Missense_Mutation_p.S48P|CHCHD7_uc003xsw.2_Silent_p.L37L	NM_001011671	NP_001011671	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain	23	CHCH.								CHCHD7/PLAG1(12)	salivary_gland(12)	12		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)					T	PLAG1	salivary adenoma								---	---	---	---
SDR16C5	195814	broad.mit.edu	37	8	57218238	57218238	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57218238C>G	uc003xsy.1	-	6	1392	c.754G>C	c.(754-756)GAA>CAA	p.E252Q	SDR16C5_uc010lyk.1_Missense_Mutation_p.E252Q|SDR16C5_uc010lyl.1_Missense_Mutation_p.E208Q	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	252					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57890688	57890688	+	Silent	SNP	G	A	A	rs144109066	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57890688G>A	uc003xte.3	-	3	850	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	189						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59488584	59488584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59488584T>C	uc003xtn.2	+	5	516	c.366T>C	c.(364-366)GAT>GAC	p.D122D	SDCBP_uc003xto.2_Silent_p.D121D|SDCBP_uc003xtr.2_Silent_p.D121D|SDCBP_uc003xtp.2_Silent_p.D116D|SDCBP_uc003xtq.2_Silent_p.D122D|SDCBP_uc003xts.2_Silent_p.D128D|SDCBP_uc011led.1_Intron	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	122	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59493089	59493089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59493089C>T	uc003xtn.2	+	8	914	c.764C>T	c.(763-765)GCA>GTA	p.A255V	SDCBP_uc003xto.2_Missense_Mutation_p.A254V|SDCBP_uc003xtr.2_Missense_Mutation_p.A254V|SDCBP_uc003xtp.2_Missense_Mutation_p.A249V|SDCBP_uc003xtq.2_Missense_Mutation_p.A255V|SDCBP_uc003xts.2_Missense_Mutation_p.A261V|SDCBP_uc011led.1_Missense_Mutation_p.A196V	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	255	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59506822	59506822	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59506822G>A	uc003xtt.2	-	23	2134	c.1920C>T	c.(1918-1920)CGC>CGT	p.R640R	NSMAF_uc011lee.1_Silent_p.R671R	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	640	WD 1.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59508110	59508110	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59508110T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59515915	59515915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59515915C>T	uc003xtt.2	-	13	1113	c.899G>A	c.(898-900)AGC>AAC	p.S300N	NSMAF_uc011lee.1_Missense_Mutation_p.S331N|NSMAF_uc003xtu.2_Missense_Mutation_p.S300N	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	300	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59544052	59544052	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59544052T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron|NSMAF_uc003xtu.2_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61743114	61743114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61743114C>T	uc003xue.2	+	15	4233	c.3756C>T	c.(3754-3756)TGC>TGT	p.C1252C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61764653	61764653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61764653G>A	uc003xue.2	+	29	6218	c.5741G>A	c.(5740-5742)CGC>CAC	p.R1914H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1914					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
ASPH	444	broad.mit.edu	37	8	62430081	62430081	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62430081C>T	uc003xuj.2	-						ASPH_uc011leg.1_Intron	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
ASPH	444	broad.mit.edu	37	8	62577909	62577909	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62577909A>C	uc003xuj.2	-						ASPH_uc011leg.1_Intron|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Intron|ASPH_uc011lei.1_Intron|ASPH_uc011lej.1_Intron|ASPH_uc003xun.2_Intron|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Intron|ASPH_uc011lel.1_Missense_Mutation_p.S193R|ASPH_uc011lem.1_Missense_Mutation_p.S178R	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64099143	64099143	+	Missense_Mutation	SNP	A	T	T	rs13255728		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:64099143A>T	uc003xuy.2	+	5	890	c.574A>T	c.(574-576)ACT>TCT	p.T192S	YTHDF3_uc010lys.2_Missense_Mutation_p.T136S|YTHDF3_uc003xuz.2_Missense_Mutation_p.T136S|YTHDF3_uc003xva.2_Missense_Mutation_p.T136S|YTHDF3_uc011len.1_Missense_Mutation_p.T136S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	192											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494116	65494116	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65494116G>A	uc003xvi.2	+	1	1303	c.769G>A	c.(769-771)GAC>AAC	p.D257N	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	257	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MTFR1	9650	broad.mit.edu	37	8	66620183	66620183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66620183C>T	uc003xvm.2	+	7	1082	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MTFR1_uc011lep.1_Silent_p.S290S|MTFR1_uc003xvn.2_Silent_p.S257S|MTFR1_uc003xvo.1_Silent_p.S280S	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	290						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66651787	66651787	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66651787C>A	uc003xvq.2	-	6	557	c.545G>T	c.(544-546)GGA>GTA	p.G182V	PDE7A_uc003xvr.2_Missense_Mutation_p.G182V|PDE7A_uc003xvp.2_Missense_Mutation_p.G156V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	182						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
DNAJC5B	85479	broad.mit.edu	37	8	66963796	66963796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66963796T>C	uc003xvs.1	+	3	305	c.14T>C	c.(13-15)ATA>ACA	p.I5T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	5					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)															---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67364293	67364293	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67364293C>T	uc003xwb.3	+	9	874	c.840C>T	c.(838-840)GAC>GAT	p.D280D	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Silent_p.D232D|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Silent_p.D210D|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)															---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67577516	67577516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67577516C>T	uc003xwn.2	-	1	1937	c.1678G>A	c.(1678-1680)GGA>AGA	p.G560R	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	560					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)															---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076737	68076737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68076737C>A	uc003xxi.2	+	24	2943	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H	CSPP1_uc003xxj.2_Missense_Mutation_p.P936H|CSPP1_uc003xxk.2_Missense_Mutation_p.P591H|CSPP1_uc010lyw.2_Missense_Mutation_p.P31H	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	971						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68111167	68111167	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68111167C>T	uc003xxo.1	-	39					ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_3'UTR|ARFGEF1_uc003xxn.1_3'UTR|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68115309	68115309	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68115309G>A	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_Intron|ARFGEF1_uc003xxn.1_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68130014	68130014	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68130014T>C	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxn.1_Intron	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150610	68150610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68150610T>C	uc003xxo.1	-	22	3647	c.3257A>G	c.(3256-3258)CAG>CGG	p.Q1086R	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q540R|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q69R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1086					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208816	68208816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208816G>A	uc003xxo.1	-	5	879	c.489C>T	c.(487-489)CAC>CAT	p.H163H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	163					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208822	68208822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208822T>C	uc003xxo.1	-	5	873	c.483A>G	c.(481-483)TCA>TCG	p.S161S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	161					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68658339	68658339	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68658339C>T	uc003xxq.3	-	1	282	c.26G>A	c.(25-27)GGC>GAC	p.G9D	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.G9D	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	9					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)															---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68930155	68930155	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68930155G>A	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68939498	68939498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68939498C>A	uc003xxv.1	+	5	510	c.483C>A	c.(481-483)CCC>CCA	p.P161P	PREX2_uc003xxu.1_Silent_p.P161P|PREX2_uc011lez.1_Silent_p.P96P	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	161	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68956765	68956765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68956765C>T	uc003xxv.1	+	8	910	c.883C>T	c.(883-885)CTT>TTT	p.L295F	PREX2_uc003xxu.1_Missense_Mutation_p.L295F|PREX2_uc011lez.1_Missense_Mutation_p.L230F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	295	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68965388	68965388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68965388G>A	uc003xxv.1	+	9	1027	c.1000G>A	c.(1000-1002)GCA>ACA	p.A334T	PREX2_uc003xxu.1_Missense_Mutation_p.A334T|PREX2_uc011lez.1_Missense_Mutation_p.A269T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68993075	68993075	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68993075T>C	uc003xxv.1	+	17	1905	c.1878_splice	c.e17+2	p.E626_splice	PREX2_uc003xxu.1_Splice_Site_p.E626_splice|PREX2_uc011lez.1_Splice_Site_p.E561_splice	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69011996	69011996	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69011996C>A	uc003xxv.1	+	23	2660	c.2633C>A	c.(2632-2634)CCT>CAT	p.P878H	PREX2_uc003xxu.1_Missense_Mutation_p.P878H|PREX2_uc011lez.1_Missense_Mutation_p.P813H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	878					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69015051	69015051	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69015051A>G	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69039639	69039639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69039639C>T	uc003xxv.1	+	31	3778	c.3751C>T	c.(3751-3753)CTT>TTT	p.L1251F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1251					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69351824	69351824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69351824C>T	uc010lyz.2	+	2	209	c.160C>T	c.(160-162)CAA>TAA	p.Q54*	C8orf34_uc010lyx.1_Nonsense_Mutation_p.Q54*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.Q54*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.Q29*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	54					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70588860	70588860	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70588860A>C	uc003xyl.2	-	9	2780	c.2073T>G	c.(2071-2073)GTT>GTG	p.V691V	SLCO5A1_uc010lzb.2_Silent_p.V636V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	691	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70971024	70971024	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70971024A>G	uc003xym.2	-	6	1439	c.1237T>C	c.(1237-1239)TAT>CAT	p.Y413H		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	413	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70980555	70980555	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70980555G>A	uc003xym.2	-	4	1024	c.822C>T	c.(820-822)ATC>ATT	p.I274I		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71060570	71060570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71060570G>A	uc003xyn.1	-	12	2705	c.2543C>T	c.(2542-2544)GCT>GTT	p.A848V	NCOA2_uc011lfb.1_Missense_Mutation_p.A5V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	848					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72234492	72234492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72234492T>C	uc003xys.3	-	4	501	c.214A>G	c.(214-216)AGT>GGT	p.S72G	EYA1_uc003xyr.3_Missense_Mutation_p.S72G|EYA1_uc003xyt.3_Missense_Mutation_p.S39G|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.S72G|EYA1_uc011lfe.1_Missense_Mutation_p.S72G|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	72					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)															---	---	---	---
MSC	9242	broad.mit.edu	37	8	72755945	72755945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72755945C>T	uc003xyx.1	-	1	787	c.469G>A	c.(469-471)GCT>ACT	p.A157T	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	157	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)													OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72981364	72981364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72981364C>A	uc003xza.2	-	3	513	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	113	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72987597	72987597	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72987597C>A	uc003xza.2	-	1	223	c.48G>T	c.(46-48)GAG>GAT	p.E16D		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	16	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848595	73848595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848595G>T	uc003xzb.2	+	3	1593	c.1005G>T	c.(1003-1005)TTG>TTT	p.L335F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	335	Helical; Name=Segment S5; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848886	73848886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848886A>G	uc003xzb.2	+	3	1884	c.1296A>G	c.(1294-1296)AAA>AAG	p.K432K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	432	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848931	73848931	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848931A>G	uc003xzb.2	+	3	1929	c.1341A>G	c.(1339-1341)GGA>GGG	p.G447G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	447	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849687	73849687	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849687T>C	uc003xzb.2	+	3	2685	c.2097T>C	c.(2095-2097)AGT>AGC	p.S699S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	699	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76470782	76470782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76470782T>A	uc003yaq.2	+	8	892	c.622T>A	c.(622-624)TGT>AGT	p.C208S	HNF4G_uc003yar.2_Missense_Mutation_p.C245S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	208					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767582	77767582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767582G>A	uc003yav.2	+	10	8677	c.8290G>A	c.(8290-8292)GCA>ACA	p.A2764T	ZFHX4_uc003yau.1_Missense_Mutation_p.A2809T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2764T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2764						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
TPD52	7163	broad.mit.edu	37	8	80965534	80965534	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:80965534G>A	uc003ybr.1	-	3	709	c.387C>T	c.(385-387)GAC>GAT	p.D129D	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.D89D|TPD52_uc003ybt.1_Silent_p.D89D|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	129					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)															---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81431715	81431715	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81431715C>A	uc003ybx.3	+	6	3166	c.2568C>A	c.(2566-2568)CCC>CCA	p.P856P	ZBTB10_uc003ybv.3_Silent_p.P564P|ZBTB10_uc003ybw.3_Silent_p.P832P|ZBTB10_uc010lzt.2_Silent_p.P854P	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	856					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)															---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82196782	82196782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82196782A>G	uc003yca.1	+	4	436	c.388A>G	c.(388-390)ATC>GTC	p.I130V		NM_001444	NP_001435	Q01469	FABP5_HUMAN	fatty acid binding protein 5	130	Fatty acid binding (By similarity).				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity				0	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)															---	---	---	---
FABP9	646480	broad.mit.edu	37	8	82373677	82373677	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82373677A>G	uc011lfo.1	-							NM_001080526	NP_001073995			fatty acid binding protein 9, testis								lipid binding|transporter activity				0			Epithelial(68;0.186)															---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82593741	82593741	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82593741C>T	uc003ych.2	-	2	182	c.55G>A	c.(55-57)GCT>ACT	p.A19T	IMPA1_uc011lfq.1_Missense_Mutation_p.A78T|IMPA1_uc011lfr.1_Missense_Mutation_p.A19T	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	19					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)													---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86121514	86121514	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86121514G>A	uc003ycz.3	+	6	790	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	E2F5_uc003yda.3_Silent_p.Q251Q|E2F5_uc010mab.2_Silent_p.Q90Q|E2F5_uc003ydb.3_Silent_p.Q70Q	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	251					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1																		---	---	---	---
C8orf59	401466	broad.mit.edu	37	8	86127243	86127243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86127243T>G	uc010mac.1	-	4	378	c.138A>C	c.(136-138)AAA>AAC	p.K46N	C8orf59_uc003ydd.2_Missense_Mutation_p.K46N|C8orf59_uc010mad.1_Missense_Mutation_p.K46N|C8orf59_uc003yde.2_Missense_Mutation_p.K46N|uc003ydc.1_RNA|C8orf59_uc011lfu.1_Intron	NM_001099670	NP_001093140	Q8N0T1	CH059_HUMAN	hypothetical protein LOC401466	46											0																		---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87230005	87230005	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87230005C>A	uc003ydq.1	-	3	971	c.873G>T	c.(871-873)ATG>ATT	p.M291I	SLC7A13_uc003ydr.1_Missense_Mutation_p.M282I	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	291	Helical; Name=8; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87437558	87437558	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87437558A>T	uc003ydt.2	+						WWP1_uc010mai.2_Intron	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87443720	87443720	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87443720G>T	uc003ydt.2	+	13	1752	c.1472_splice	c.e13+1	p.G491_splice	WWP1_uc010mai.2_Splice_Site_p.G267_splice	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89081664	89081664	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89081664G>A	uc003yeb.3	-						MMP16_uc003yec.2_Missense_Mutation_p.P437S	NM_005941	NP_005932			matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89086947	89086947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89086947T>C	uc003yeb.3	-	7	1390	c.1108A>G	c.(1108-1110)AAC>GAC	p.N370D	MMP16_uc003yec.2_Missense_Mutation_p.N370D	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	370	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128833	89128833	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128833G>A	uc003yeb.3	-	6	1268	c.986C>T	c.(985-987)CCA>CTA	p.P329L	MMP16_uc003yec.2_Missense_Mutation_p.P329L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	329	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90802434	90802434	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90802434A>C	uc003yee.2	+	11	1727	c.1413A>C	c.(1411-1413)AAA>AAC	p.K471N	RIPK2_uc003yef.2_Missense_Mutation_p.K334N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	471	CARD.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)															---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92374603	92374603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92374603T>C	uc003yex.2	+	13	1615	c.1337T>C	c.(1336-1338)GTA>GCA	p.V446A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V446A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V446A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	446	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94745668	94745668	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94745668C>T	uc003yfz.2	-	3	3164	c.2971G>A	c.(2971-2973)GTT>ATT	p.V991I		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	991	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94747482	94747482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94747482A>G	uc003yfz.2	-	3	1350	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	386							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95782721	95782721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95782721G>A	uc003ygx.2	+	13	1500	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	459						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97172915	97172915	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97172915A>T	uc003yhp.2	-	1	106	c.6T>A	c.(4-6)GAT>GAA	p.D2E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	2					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)																	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98703401	98703401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98703401A>G	uc003yhz.2	+	6	1361	c.1033A>G	c.(1033-1035)ATA>GTA	p.I345V	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	345	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)															---	---	---	---
MATN2	4147	broad.mit.edu	37	8	99039747	99039747	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99039747A>C	uc003yic.2	+	14	2277	c.2046A>C	c.(2044-2046)ATA>ATC	p.I682I	MATN2_uc010mbh.1_Silent_p.I641I|MATN2_uc003yid.2_Silent_p.I682I|MATN2_uc003yie.1_Silent_p.I682I|MATN2_uc010mbi.1_Silent_p.I515I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	682	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168275	99168275	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168275T>C	uc003yij.3	+						POP1_uc011lgv.1_Intron|POP1_uc003yik.2_Intron	NM_001145860	NP_001139332			processing of precursor 1						tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168483	99168483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168483C>T	uc003yij.3	+	15	2363	c.2263C>T	c.(2263-2265)CCA>TCA	p.P755S	POP1_uc011lgv.1_Missense_Mutation_p.P755S|POP1_uc003yik.2_Missense_Mutation_p.P755S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	755					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99248423	99248423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99248423A>G	uc003yil.1	-	4	652	c.396T>C	c.(394-396)GTT>GTC	p.V132V	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V132V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	132						integral to membrane					0																		---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440332	99440332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99440332G>A	uc003yin.2	+	2	475	c.125G>A	c.(124-126)CGC>CAC	p.R42H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	42	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)															---	---	---	---
STK3	6788	broad.mit.edu	37	8	99468135	99468135	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99468135T>C	uc003yip.2	-	11	1552	c.1411A>G	c.(1411-1413)ACT>GCT	p.T471A	STK3_uc003yio.2_Missense_Mutation_p.T499A	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	471	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
STK3	6788	broad.mit.edu	37	8	99735183	99735183	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99735183A>T	uc003yip.2	-						STK3_uc003yio.2_Intron|STK3_uc010mbm.1_Intron	NM_006281	NP_006272			serine/threonine kinase 3						apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100050747	100050747	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100050747A>G	uc003yiv.2	+	3	355	c.244A>G	c.(244-246)ACC>GCC	p.T82A	VPS13B_uc003yiw.2_Missense_Mutation_p.T82A|VPS13B_uc003yit.2_Missense_Mutation_p.T82A|VPS13B_uc003yiu.1_Missense_Mutation_p.T82A|VPS13B_uc003yis.2_Missense_Mutation_p.T82A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	82					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100729416	100729416	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100729416T>A	uc003yiv.2	+	37	6658	c.6547T>A	c.(6547-6549)TCA>ACA	p.S2183T	VPS13B_uc003yiw.2_Missense_Mutation_p.S2158T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2183					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100977666	100977666	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100977666T>C	uc003yjb.1	-						RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Intron	NM_015668	NP_056483			regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101020754	101020754	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101020754A>G	uc003yjb.1	-	15	2405	c.2210T>C	c.(2209-2211)ATT>ACT	p.I737T	RGS22_uc003yja.1_Missense_Mutation_p.I556T|RGS22_uc003yjc.1_Missense_Mutation_p.I725T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	737					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101153423	101153423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101153423A>G	uc003yjd.2	-	2	1772	c.1059T>C	c.(1057-1059)GGT>GGC	p.G353G	FBXO43_uc003yje.2_Silent_p.G319G|FBXO43_uc010mbp.1_Silent_p.G353G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	353					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101203638	101203638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101203638A>G	uc003yjh.1	+	9	939	c.853A>G	c.(853-855)ACA>GCA	p.T285A	SPAG1_uc003yjg.1_Missense_Mutation_p.T285A|SPAG1_uc003yji.1_Missense_Mutation_p.T285A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	285	TPR 3.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101237493	101237493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101237493C>A	uc003yjh.1	+	14	1867	c.1781C>A	c.(1780-1782)GCT>GAT	p.A594D	SPAG1_uc003yji.1_Missense_Mutation_p.A594D	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	594					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102589676	102589676	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102589676A>T	uc010mbu.2	+	7	1262	c.932A>T	c.(931-933)GAT>GTT	p.D311V		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	311						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)															---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103236354	103236354	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103236354T>C	uc003ykn.2	-	5	714	c.470A>G	c.(469-471)AAT>AGT	p.N157S	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N105S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	157					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)										Direct_reversal_of_damage|Modulation_of_nucleotide_pools					---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564230	103564230	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103564230G>T	uc003ykt.2	+	1	383	c.275G>T	c.(274-276)AGG>ATG	p.R92M		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	92					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---
ATP6V1C1	528	broad.mit.edu	37	8	104078589	104078589	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104078589C>T	uc003ykz.3	+	12	1212	c.967C>T	c.(967-969)CCC>TCC	p.P323S	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.P248S|ATP6V1C1_uc003yla.2_Missense_Mutation_p.P323S|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.P248S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	323					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337731	104337731	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337731A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337736	104337736	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337736A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452374	104452374	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452374C>G	uc003yln.2	+	9	1694	c.1417C>G	c.(1417-1419)CAT>GAT	p.H473D	DCAF13_uc003ylm.1_Missense_Mutation_p.H206D|DCAF13_uc003ylo.2_Missense_Mutation_p.H184D	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	321					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452496	104452496	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452496T>C	uc003yln.2	+	9	1816	c.1539T>C	c.(1537-1539)GGT>GGC	p.G513G	DCAF13_uc003ylm.1_Silent_p.G246G|DCAF13_uc003ylo.2_Silent_p.G224G	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	361	WD 7.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898191	104898191	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104898191G>A	uc003yls.2	+	2	939	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R455Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R263Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104955055	104955055	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104955055C>A	uc003yls.2	+	12	2177	c.1936C>A	c.(1936-1938)CTT>ATT	p.L646I	RIMS2_uc003ylp.2_Missense_Mutation_p.L868I|RIMS2_uc003ylw.2_Missense_Mutation_p.L660I|RIMS2_uc003ylq.2_Missense_Mutation_p.L660I|RIMS2_uc003ylr.2_Missense_Mutation_p.L707I|RIMS2_uc003ylt.2_Missense_Mutation_p.L253I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	930					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105360772	105360772	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105360772G>A	uc003ylx.1	+	2						NM_030788	NP_110415			dendritic cell-specific transmembrane protein						osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105361020	105361020	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105361020T>C	uc003ylx.1	+	2	289	c.240T>C	c.(238-240)TGT>TGC	p.C80C		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	80					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521172	105521172	+	Silent	SNP	A	G	G	rs146591291		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521172A>G	uc003yma.2	-	3	362	c.267T>C	c.(265-267)ACT>ACC	p.T89T	LRP12_uc003ymb.2_Silent_p.T70T|LRP12_uc003ymc.3_Silent_p.T70T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	89	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521252	105521252	+	Missense_Mutation	SNP	T	G	G	rs113326704		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521252T>G	uc003yma.2	-	3	282	c.187A>C	c.(187-189)AGC>CGC	p.S63R	LRP12_uc003ymb.2_Missense_Mutation_p.S44R|LRP12_uc003ymc.3_Missense_Mutation_p.S44R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	63	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796640	109796640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796640G>A	uc003ymy.1	-	2	793	c.688C>T	c.(688-690)CGC>TGC	p.R230C	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796927	109796927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796927T>C	uc003ymy.1	-	2	506	c.401A>G	c.(400-402)AAT>AGT	p.N134S	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	134					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110351554	110351554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110351554A>G	uc003ynd.2	+	3	151	c.89A>G	c.(88-90)AAA>AGA	p.K30R	ENY2_uc003ync.2_Missense_Mutation_p.K25R	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	30					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110471910	110471910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110471910A>G	uc003yne.2	+	47	7195	c.7091A>G	c.(7090-7092)TAC>TGC	p.Y2364C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2364	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110535613	110535613	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110535613C>T	uc003yne.2	+	76	12586	c.12482C>T	c.(12481-12483)ACA>ATA	p.T4161I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4161	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110575641	110575641	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110575641A>T	uc003ynf.2	+						EBAG9_uc003yng.2_Intron	NM_198120	NP_936056			estrogen receptor binding site associated						apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)															---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110587443	110587443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110587443C>T	uc003ynj.3	-	7	1847	c.1684G>A	c.(1684-1686)GCC>ACC	p.A562T	SYBU_uc003yni.3_Missense_Mutation_p.A559T|SYBU_uc003ynk.3_Missense_Mutation_p.A443T|SYBU_uc010mco.2_Missense_Mutation_p.A561T|SYBU_uc003ynl.3_Missense_Mutation_p.A561T|SYBU_uc010mcp.2_Missense_Mutation_p.A562T|SYBU_uc010mcq.2_Missense_Mutation_p.A562T|SYBU_uc003yno.3_Missense_Mutation_p.A443T|SYBU_uc010mcr.2_Missense_Mutation_p.A562T|SYBU_uc003ynm.3_Missense_Mutation_p.A561T|SYBU_uc003ynn.3_Missense_Mutation_p.A561T|SYBU_uc010mcs.2_Missense_Mutation_p.A443T|SYBU_uc010mct.2_Missense_Mutation_p.A562T|SYBU_uc010mcu.2_Missense_Mutation_p.A561T|SYBU_uc003ynp.3_Missense_Mutation_p.A494T|SYBU_uc010mcv.2_Missense_Mutation_p.A562T|SYBU_uc003ynh.3_Missense_Mutation_p.A356T|SYBU_uc011lhw.1_Missense_Mutation_p.A432T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	562						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588041	110588041	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588041T>C	uc003ynj.3	-	7	1249	c.1086A>G	c.(1084-1086)ATA>ATG	p.I362M	SYBU_uc003yni.3_Missense_Mutation_p.I359M|SYBU_uc003ynk.3_Missense_Mutation_p.I243M|SYBU_uc010mco.2_Missense_Mutation_p.I361M|SYBU_uc003ynl.3_Missense_Mutation_p.I361M|SYBU_uc010mcp.2_Missense_Mutation_p.I362M|SYBU_uc010mcq.2_Missense_Mutation_p.I362M|SYBU_uc003yno.3_Missense_Mutation_p.I243M|SYBU_uc010mcr.2_Missense_Mutation_p.I362M|SYBU_uc003ynm.3_Missense_Mutation_p.I361M|SYBU_uc003ynn.3_Missense_Mutation_p.I361M|SYBU_uc010mcs.2_Missense_Mutation_p.I243M|SYBU_uc010mct.2_Missense_Mutation_p.I362M|SYBU_uc010mcu.2_Missense_Mutation_p.I361M|SYBU_uc003ynp.3_Missense_Mutation_p.I294M|SYBU_uc010mcv.2_Missense_Mutation_p.I362M|SYBU_uc003ynh.3_Missense_Mutation_p.I156M|SYBU_uc011lhw.1_Missense_Mutation_p.I232M	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	362	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588192	110588192	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588192T>A	uc003ynj.3	-	7	1098	c.935A>T	c.(934-936)GAC>GTC	p.D312V	SYBU_uc003yni.3_Missense_Mutation_p.D309V|SYBU_uc003ynk.3_Missense_Mutation_p.D193V|SYBU_uc010mco.2_Missense_Mutation_p.D311V|SYBU_uc003ynl.3_Missense_Mutation_p.D311V|SYBU_uc010mcp.2_Missense_Mutation_p.D312V|SYBU_uc010mcq.2_Missense_Mutation_p.D312V|SYBU_uc003yno.3_Missense_Mutation_p.D193V|SYBU_uc010mcr.2_Missense_Mutation_p.D312V|SYBU_uc003ynm.3_Missense_Mutation_p.D311V|SYBU_uc003ynn.3_Missense_Mutation_p.D311V|SYBU_uc010mcs.2_Missense_Mutation_p.D193V|SYBU_uc010mct.2_Missense_Mutation_p.D312V|SYBU_uc010mcu.2_Missense_Mutation_p.D311V|SYBU_uc003ynp.3_Missense_Mutation_p.D244V|SYBU_uc010mcv.2_Missense_Mutation_p.D312V|SYBU_uc003ynh.3_Missense_Mutation_p.D106V|SYBU_uc011lhw.1_Missense_Mutation_p.D182V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	312	Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110984530	110984530	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110984530C>T	uc003ynr.3	-	2	1290	c.948G>A	c.(946-948)CTG>CTA	p.L316L	KCNV1_uc010mcw.2_Silent_p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241000	113241000	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113241000T>G	uc003ynu.2	-	70	11108	c.10949A>C	c.(10948-10950)TAT>TCT	p.Y3650S	CSMD3_uc003yns.2_Missense_Mutation_p.Y2852S|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3610S|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3481S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3650	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256732	113256732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256732C>T	uc003ynu.2	-	65	10452	c.10293G>A	c.(10291-10293)GGG>GGA	p.G3431G	CSMD3_uc003yns.2_Silent_p.G2633G|CSMD3_uc003ynt.2_Silent_p.G3391G|CSMD3_uc011lhx.1_Silent_p.G3262G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3431	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308208	113308208	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113308208A>T	uc003ynu.2	-	54	8627	c.8468T>A	c.(8467-8469)ATT>AAT	p.I2823N	CSMD3_uc003yns.2_Missense_Mutation_p.I2025N|CSMD3_uc003ynt.2_Missense_Mutation_p.I2783N|CSMD3_uc011lhx.1_Missense_Mutation_p.I2654N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2823	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353786	113353786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113353786A>G	uc003ynu.2	-	42	6731	c.6572T>C	c.(6571-6573)TTC>TCC	p.F2191S	CSMD3_uc003yns.2_Missense_Mutation_p.F1393S|CSMD3_uc003ynt.2_Missense_Mutation_p.F2151S|CSMD3_uc011lhx.1_Missense_Mutation_p.F2087S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2191	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426319	116426319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116426319T>C	uc003ynz.2	-	6	4237	c.3778A>G	c.(3778-3780)ACA>GCA	p.T1260A	TRPS1_uc011lhy.1_Missense_Mutation_p.T1264A|TRPS1_uc003yny.2_Missense_Mutation_p.T1273A|TRPS1_uc010mcy.2_Missense_Mutation_p.T1260A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1260	C2H2-type 7.|Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599390	116599390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116599390C>T	uc003ynz.2	-	4	2958	c.2499G>A	c.(2497-2499)GTG>GTA	p.V833V	TRPS1_uc011lhy.1_Silent_p.V837V|TRPS1_uc003yny.2_Silent_p.V846V|TRPS1_uc010mcy.2_Silent_p.V833V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	833					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631923	116631923	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116631923G>A	uc003ynz.2	-	2	822	c.363C>T	c.(361-363)GTC>GTT	p.V121V	TRPS1_uc011lhy.1_Silent_p.V125V|TRPS1_uc003yny.2_Silent_p.V134V|TRPS1_uc010mcy.2_Silent_p.V121V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	121					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117658772	117658772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117658772T>A	uc003yoa.2	-	7	925	c.899A>T	c.(898-900)GAC>GTC	p.D300V	EIF3H_uc003yob.2_Missense_Mutation_p.D314V	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	300					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)																	---	---	---	---
C8orf85	441376	broad.mit.edu	37	8	117950578	117950578	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117950578C>T	uc003yof.2	+	1	115	c.96C>T	c.(94-96)CCC>CCT	p.P32P		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	32											0																		---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118812147	118812147	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118812147G>T	uc003yok.1	-							NM_000127	NP_000118			exostosin 1						glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)					Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119209944	119209944	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119209944C>T	uc010mda.1	-	5					SAMD12_uc010mdb.1_RNA	NM_001101676	NP_001095146			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119634031	119634031	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119634031A>C	uc003yom.2	-						SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431371	120431371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431371C>T	uc003yoq.2	+	4	784	c.563C>T	c.(562-564)GCT>GTT	p.A188V		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	188					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431495	120431495	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431495C>T	uc003yoq.2	+	4	908	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	229	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120435193	120435193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120435193C>T	uc003yoq.2	+	5	1116	c.895C>T	c.(895-897)CGC>TGC	p.R299C		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	299	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120809250	120809250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120809250A>G	uc003you.2	-	8	1341	c.1071T>C	c.(1069-1071)TGT>TGC	p.C357C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	357					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120847196	120847196	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120847196T>A	uc003yov.2	-	9	1254	c.1119A>T	c.(1117-1119)AAA>AAT	p.K373N	TAF2_uc003you.2_5'Flank	NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	373					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120862613	120862613	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120862613A>T	uc003yov.2	-							NM_024094	NP_076999			defective in sister chromatid cohesion 1						DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121528287	121528287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121528287T>C	uc003ypc.1	+	18	2147	c.2102T>C	c.(2101-2103)GTG>GCG	p.V701A		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	701	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121587442	121587442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121587442C>T	uc010mdg.2	-	4	1246	c.1020G>A	c.(1018-1020)CAG>CAA	p.Q340Q	SNTB1_uc003ype.2_Silent_p.Q340Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641366	122641366	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122641366T>C	uc003yph.2	-	2	753	c.215A>G	c.(214-216)AAA>AGA	p.K72R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	72	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
WDR67	93594	broad.mit.edu	37	8	124153051	124153051	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124153051A>G	uc003ypp.1	+	18	2640	c.2550A>G	c.(2548-2550)GCA>GCG	p.A850A	WDR67_uc011lig.1_Silent_p.A819A|WDR67_uc011lih.1_Silent_p.A740A|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.A484A|WDR67_uc003ypt.1_Silent_p.A307A|WDR67_uc003ypu.1_Silent_p.A307A	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	850	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664667	124664667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124664667G>A	uc003yqs.1	-	1	524	c.500C>T	c.(499-501)GCC>GTC	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	167	BACK.										0																		---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124787521	124787521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124787521T>C	uc003yqv.2	+	3	353	c.292T>C	c.(292-294)TAT>CAT	p.Y98H	FAM91A1_uc011lik.1_Missense_Mutation_p.Y98H|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	98										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124799566	124799566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124799566T>C	uc003yqv.2	+	13	1205	c.1144T>C	c.(1144-1146)TTT>CTT	p.F382L	FAM91A1_uc011lik.1_Missense_Mutation_p.F382L|FAM91A1_uc011lil.1_Missense_Mutation_p.F140L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	382										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992848	124992848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124992848G>A	uc003yqw.2	+	11	1413	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	403	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)													OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125057997	125057997	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125057997C>A	uc003yqw.2	+							NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125094706	125094706	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125094706T>C	uc003yqw.2	+						uc003yqy.1_Intron	NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
RNF139	11236	broad.mit.edu	37	8	125498225	125498225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125498225C>T	uc003yrc.2	+	2	678	c.335C>T	c.(334-336)TCA>TTA	p.S112L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	112					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)											Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125565432	125565432	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125565432A>T	uc003yrk.2	-	14	2603	c.2069T>A	c.(2068-2070)ATT>AAT	p.I690N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.I339N|MTSS1_uc011lin.1_Missense_Mutation_p.I464N|MTSS1_uc011lio.1_Missense_Mutation_p.I580N|MTSS1_uc003yri.2_Missense_Mutation_p.I408N|MTSS1_uc003yrj.2_Missense_Mutation_p.I665N|MTSS1_uc003yrl.2_Missense_Mutation_p.I694N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	690	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126021568	126021568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126021568T>A	uc011liq.1	+	6	2017	c.1091T>A	c.(1090-1092)ATT>AAT	p.I364N		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	364					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)													---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126088714	126088714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126088714C>T	uc003yrt.2	-	7	1069	c.740G>A	c.(739-741)CGC>CAC	p.R247H	KIAA0196_uc011lir.1_Missense_Mutation_p.R99H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	247					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)															---	---	---	---
FAM84B	157638	broad.mit.edu	37	8	127569528	127569528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:127569528T>C	uc003yrz.1	-	2	391	c.107A>G	c.(106-108)TAC>TGC	p.Y36C		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	36						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)															---	---	---	---
GSDMC	56169	broad.mit.edu	37	8	130789814	130789814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130789814C>T	uc003ysr.2	-	2	902	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	7						mitochondrion				ovary(2)|skin(1)	3																		---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130866573	130866573	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130866573A>G	uc003yss.2	-	10	1004	c.455T>C	c.(454-456)ATA>ACA	p.I152T	FAM49B_uc003yst.2_Missense_Mutation_p.I152T|FAM49B_uc003ysu.2_Missense_Mutation_p.I152T|FAM49B_uc003ysv.2_Missense_Mutation_p.I6T|FAM49B_uc003ysw.2_Missense_Mutation_p.I152T|FAM49B_uc003ysx.2_Missense_Mutation_p.I152T|FAM49B_uc003ysy.1_Missense_Mutation_p.I152T	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	152											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131172154	131172154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131172154T>C	uc003yta.1	-	11	994	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ASAP1_uc003ysz.1_Silent_p.E133E|ASAP1_uc011liw.1_Silent_p.E315E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	322					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4																		---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131896899	131896899	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131896899T>A	uc003ytd.3	-	8	2276	c.2020A>T	c.(2020-2022)ACC>TCC	p.T674S	ADCY8_uc010mds.2_Missense_Mutation_p.T674S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	674	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131916273	131916273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131916273G>A	uc003ytd.3	-	7	1912	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	ADCY8_uc010mds.2_Silent_p.S552S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	552	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036882	133036882	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133036882T>C	uc003ytg.2	-	13	1280	c.1280A>G	c.(1279-1281)GAC>GGC	p.D427G	OC90_uc011lix.1_Missense_Mutation_p.D427G	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	443					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
OC90	729330	broad.mit.edu	37	8	133041316	133041316	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133041316T>C	uc003ytg.2	-						OC90_uc011lix.1_Intron	NM_001080399	NP_001073868			otoconin 90						lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133196541	133196541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133196541T>C	uc003ytj.2	-	3	776	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	KCNQ3_uc010mdt.2_Missense_Mutation_p.Y184C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	184					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133492463	133492463	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133492463C>T	uc003ytj.2	-	1	542	c.317G>A	c.(316-318)CGC>CAC	p.R106H	KCNQ3_uc010mdt.2_Missense_Mutation_p.R106H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	106					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133645002	133645002	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133645002C>T	uc003ytk.2	-	5	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	213						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133816054	133816054	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133816054T>C	uc003ytt.2	+						PHF20L1_uc003ytr.2_Intron|PHF20L1_uc010mdv.2_Intron|PHF20L1_uc003yts.2_Intron|PHF20L1_uc011lja.1_Intron|PHF20L1_uc003ytu.1_Intron|PHF20L1_uc003ytv.2_Silent_p.F5F	NM_016018	NP_057102			PHD finger protein 20-like 1 isoform 1								nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133837511	133837511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133837511A>G	uc003ytt.2	+	14	1964	c.1639A>G	c.(1639-1641)AAG>GAG	p.K547E	PHF20L1_uc003yts.2_3'UTR|PHF20L1_uc011lja.1_Missense_Mutation_p.K521E|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	547	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
TG	7038	broad.mit.edu	37	8	133895214	133895214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133895214A>G	uc003ytw.2	+	8	1086	c.1045A>G	c.(1045-1047)ACC>GCC	p.T349A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	349	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133975325	133975325	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133975325G>A	uc003ytw.2	+						TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_5'Flank|TG_uc010mdx.1_Intron	NM_003235	NP_003226			thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133984908	133984908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133984908G>T	uc003ytw.2	+	34	6162	c.6121G>T	c.(6121-6123)GGA>TGA	p.G2041*	TG_uc010mdw.2_Nonsense_Mutation_p.G800*|TG_uc011ljb.1_Nonsense_Mutation_p.G410*|TG_uc011ljc.1_Nonsense_Mutation_p.G195*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2041	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
SLA	6503	broad.mit.edu	37	8	134062229	134062229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134062229C>T	uc003ytz.2	-	5	998	c.166G>A	c.(166-168)GGG>AGG	p.G56R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G73R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G73R|SLA_uc010mdy.1_Missense_Mutation_p.G56R|SLA_uc010mdz.1_Missense_Mutation_p.G56R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.G96R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	56	SH3.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)															---	---	---	---
TG	7038	broad.mit.edu	37	8	134108554	134108554	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134108554G>T	uc003ytw.2	+	43	7550	c.7509G>T	c.(7507-7509)GAG>GAT	p.E2503D	TG_uc010mdw.2_Missense_Mutation_p.E1262D|TG_uc011ljb.1_Missense_Mutation_p.E872D|TG_uc011ljc.1_Missense_Mutation_p.E636D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2503					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	134145772	134145772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134145772C>T	uc003ytw.2	+	47	8097	c.8056C>T	c.(8056-8058)CCT>TCT	p.P2686S	TG_uc010mdw.2_Missense_Mutation_p.P1445S|TG_uc011ljb.1_Missense_Mutation_p.P1055S|TG_uc011ljc.1_Missense_Mutation_p.P819S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2686					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134276877	134276877	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134276877A>C	uc003yuh.2	-	4	704	c.118T>G	c.(118-120)TTA>GTA	p.L40V	NDRG1_uc003yug.2_Missense_Mutation_p.L40V|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	40					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164378	139164378	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139164378C>A	uc003yuy.2	-	13	2511	c.2340G>T	c.(2338-2340)GAG>GAT	p.E780D	FAM135B_uc003yux.2_Missense_Mutation_p.E681D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E342D|FAM135B_uc003yvb.2_Missense_Mutation_p.E342D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	780										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180136	139180136	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139180136A>C	uc003yuy.2	-	12	1429	c.1258_splice	c.e12+1	p.G420_splice	FAM135B_uc003yux.2_Splice_Site_p.G321_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996			hypothetical protein LOC51059											ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139278000	139278000	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139278000T>C	uc003yuy.2	-	4	414	c.243A>G	c.(241-243)GTA>GTG	p.V81V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	81										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139629147	139629147	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139629147G>A	uc003yvd.2	-						COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848			collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)												HNSCC(7;0.00092)			---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140715061	140715061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:140715061A>G	uc003yvf.1	-	1	239	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	KCNK9_uc003yvg.1_Missense_Mutation_p.Y59H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	59	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)															---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141297761	141297761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141297761A>G	uc003yvj.2	-	13	2061	c.1927T>C	c.(1927-1929)TAC>CAC	p.Y643H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y741H|TRAPPC9_uc010mel.1_Missense_Mutation_p.Y64H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y634H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	643					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141301164	141301164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141301164A>G	uc003yvj.2	-	12	1916	c.1782T>C	c.(1780-1782)GTT>GTC	p.V594V	TRAPPC9_uc003yvh.2_Silent_p.V692V|TRAPPC9_uc010mel.1_Silent_p.V15V|TRAPPC9_uc003yvi.1_Silent_p.V585V	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	594					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141449272	141449272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141449272G>A	uc003yvj.2	-	3	743	c.609C>T	c.(607-609)GGC>GGT	p.G203G	TRAPPC9_uc003yvh.2_Silent_p.G301G|TRAPPC9_uc003yvi.1_Silent_p.G203G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	203					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141542676	141542676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141542676G>A	uc003yvn.2	-	18	2350	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D	EIF2C2_uc010men.2_Silent_p.D693D|EIF2C2_uc010meo.2_Silent_p.D736D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	770	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141551423	141551423	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141551423T>C	uc003yvn.2	-	15	1914	c.1874A>G	c.(1873-1875)TAC>TGC	p.Y625C	EIF2C2_uc010men.2_Missense_Mutation_p.Y548C|EIF2C2_uc010meo.2_Missense_Mutation_p.Y625C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	625	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141559224	141559224	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141559224G>A	uc003yvn.2	-	12	1617	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M	EIF2C2_uc010men.2_Missense_Mutation_p.T449M|EIF2C2_uc010meo.2_Missense_Mutation_p.T526M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	526	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141745491	141745491	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141745491T>C	uc003yvu.2	-	22	2119	c.1889A>G	c.(1888-1890)GAT>GGT	p.D630G	PTK2_uc003yvo.2_Missense_Mutation_p.D258G|PTK2_uc011ljq.1_Missense_Mutation_p.D325G|PTK2_uc003yvp.2_Missense_Mutation_p.D298G|PTK2_uc003yvq.2_Missense_Mutation_p.D156G|PTK2_uc003yvr.2_Missense_Mutation_p.D570G|PTK2_uc003yvs.2_Missense_Mutation_p.D630G|PTK2_uc003yvt.2_Missense_Mutation_p.D652G|PTK2_uc003yvv.2_Missense_Mutation_p.D530G|PTK2_uc011ljr.1_Missense_Mutation_p.D630G|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	630	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141754863	141754863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141754863T>C	uc003yvu.2	-	19	1752	c.1522A>G	c.(1522-1524)AGG>GGG	p.R508G	PTK2_uc003yvo.2_Missense_Mutation_p.R136G|PTK2_uc011ljq.1_Missense_Mutation_p.R203G|PTK2_uc003yvp.2_Missense_Mutation_p.R176G|PTK2_uc003yvq.2_Missense_Mutation_p.R34G|PTK2_uc003yvr.2_Missense_Mutation_p.R448G|PTK2_uc003yvs.2_Missense_Mutation_p.R508G|PTK2_uc003yvt.2_Missense_Mutation_p.R530G|PTK2_uc003yvv.2_Missense_Mutation_p.R408G|PTK2_uc011ljr.1_Missense_Mutation_p.R508G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	508	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141889685	141889685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141889685A>G	uc003yvu.2	-	4	477	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.Y83H|PTK2_uc003yvt.2_Missense_Mutation_p.Y105H|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.Y83H	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	83	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178176	142178176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142178176C>T	uc003yvy.2	+	13	1865	c.1587C>T	c.(1585-1587)TGC>TGT	p.C529C	DENND3_uc010mep.2_Silent_p.C490C|DENND3_uc003yvz.1_Silent_p.C213C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	529										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142231844	142231844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142231844T>C	uc003ywd.1	-	2	417	c.109A>G	c.(109-111)AGC>GGC	p.S37G	SLC45A4_uc003ywc.1_Missense_Mutation_p.S37G|SLC45A4_uc010meq.1_Missense_Mutation_p.S35G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	88	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---
BAI1	575	broad.mit.edu	37	8	143623370	143623370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143623370C>T	uc003ywm.2	+	27	3958	c.3775C>T	c.(3775-3777)CCC>TCC	p.P1259S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1259	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ARC	23237	broad.mit.edu	37	8	143694743	143694743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143694743G>A	uc003ywn.1	-	1	1091	c.890C>T	c.(889-891)CCG>CTG	p.P297L		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	297					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)																---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961155	143961155	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143961155G>A	uc003yxi.2	-	1	82	c.75C>T	c.(73-75)GGC>GGT	p.G25G	CYP11B1_uc003yxj.2_Silent_p.G25G|CYP11B1_uc010mey.2_Silent_p.G25G	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									Familial_Hyperaldosteronism_type_I				---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143994781G>A	uc003yxk.1	-	6	1044	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									Familial_Hyperaldosteronism_type_I				---	---	---	---
ZFP41	286128	broad.mit.edu	37	8	144332621	144332621	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144332621T>C	uc003yxw.2	+	2					ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193			zinc finger protein 41 homolog						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378517	144378517	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378517C>T	uc003yxy.3	+	3	1081	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	224	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144413431	144413431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144413431G>A	uc003yxz.2	-	2	220	c.201C>T	c.(199-201)TAC>TAT	p.Y67Y	TOP1MT_uc011lkd.1_Translation_Start_Site|TOP1MT_uc011lke.1_Translation_Start_Site|TOP1MT_uc010mfb.2_Translation_Start_Site|TOP1MT_uc010mfd.1_Translation_Start_Site	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	67					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)													---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620360	144620360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144620360G>A	uc003yyd.2	-	2	1206	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	393					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)															---	---	---	---
TSTA3	7264	broad.mit.edu	37	8	144696501	144696501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144696501T>C	uc003yza.2	-	6	623	c.587A>G	c.(586-588)CAC>CGC	p.H196R	TSTA3_uc003yzb.2_Missense_Mutation_p.H196R	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	196					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)													---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874878	144874878	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144874878C>T	uc003yzp.1	-	30	4184	c.4177G>A	c.(4177-4179)GCC>ACC	p.A1393T	SCRIB_uc003yzn.1_Missense_Mutation_p.G102S|SCRIB_uc003yzo.1_Missense_Mutation_p.A1393T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1393	Potential.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144877663	144877663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144877663C>T	uc003yzp.1	-	25	3648	c.3641G>A	c.(3640-3642)GGC>GAC	p.G1214D	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.G1214D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1214	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144898884	144898884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144898884C>T	uc003yzs.2	-	12	1550	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.V436I|PUF60_uc003yzt.2_Missense_Mutation_p.V479I|PUF60_uc003yzq.2_Missense_Mutation_p.V453I	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	496	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144899832	144899832	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144899832G>A	uc003yzs.2	-	9	1002	c.938C>T	c.(937-939)GCC>GTC	p.A313V	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A253V|PUF60_uc003yzt.2_Missense_Mutation_p.A296V|PUF60_uc003yzq.2_Missense_Mutation_p.A270V|PUF60_uc003yzu.1_Missense_Mutation_p.A302V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	313	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144900179	144900179	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144900179C>T	uc003yzs.2	-	8	734	c.670G>A	c.(670-672)GCC>ACC	p.A224T	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A164T|PUF60_uc003yzt.2_Missense_Mutation_p.A207T|PUF60_uc003yzq.2_Missense_Mutation_p.A181T|PUF60_uc003yzu.1_Missense_Mutation_p.A213T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	224	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144902883	144902883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144902883C>T	uc003yzs.2	-	5	365	c.301G>A	c.(301-303)GCA>ACA	p.A101T	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.A58T|PUF60_uc003yzu.1_Missense_Mutation_p.A90T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
NRBP2	340371	broad.mit.edu	37	8	144920921	144920921	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144920921A>G	uc011lkt.1	-	10	911	c.771T>C	c.(769-771)AAT>AAC	p.N257N	NRBP2_uc003yzv.2_Silent_p.N14N|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.N14N|NRBP2_uc011lks.1_Silent_p.N14N|NRBP2_uc003yzy.2_Silent_p.N14N	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	257	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940304	144940304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144940304T>C	uc003zaa.1	-	2	15141	c.15128A>G	c.(15127-15129)AAC>AGC	p.N5043S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5043	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144942445	144942445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144942445C>T	uc003zaa.1	-	1	4990	c.4977G>A	c.(4975-4977)CAG>CAA	p.Q1659Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1659	Plectin 28.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991141	144991141	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991141A>G	uc003zaf.1	-	32	13429	c.13259T>C	c.(13258-13260)ATC>ACC	p.I4420T	PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4420	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991345	144991345	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991345T>C	uc003zaf.1	-	32	13225	c.13055A>G	c.(13054-13056)GAC>GGC	p.D4352G	PLEC_uc003zab.1_Missense_Mutation_p.D4215G|PLEC_uc003zac.1_Missense_Mutation_p.D4219G|PLEC_uc003zad.2_Missense_Mutation_p.D4215G|PLEC_uc003zae.1_Missense_Mutation_p.D4183G|PLEC_uc003zag.1_Missense_Mutation_p.D4193G|PLEC_uc003zah.2_Missense_Mutation_p.D4201G|PLEC_uc003zaj.2_Missense_Mutation_p.D4242G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4352	Globular 2.|Plectin 28.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993077	144993077	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993077C>T	uc003zaf.1	-	32	11493	c.11323G>A	c.(11323-11325)GCC>ACC	p.A3775T	PLEC_uc003zab.1_Missense_Mutation_p.A3638T|PLEC_uc003zac.1_Missense_Mutation_p.A3642T|PLEC_uc003zad.2_Missense_Mutation_p.A3638T|PLEC_uc003zae.1_Missense_Mutation_p.A3606T|PLEC_uc003zag.1_Missense_Mutation_p.A3616T|PLEC_uc003zah.2_Missense_Mutation_p.A3624T|PLEC_uc003zaj.2_Missense_Mutation_p.A3665T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3775	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993131	144993131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993131T>C	uc003zaf.1	-	32	11439	c.11269A>G	c.(11269-11271)ATC>GTC	p.I3757V	PLEC_uc003zab.1_Missense_Mutation_p.I3620V|PLEC_uc003zac.1_Missense_Mutation_p.I3624V|PLEC_uc003zad.2_Missense_Mutation_p.I3620V|PLEC_uc003zae.1_Missense_Mutation_p.I3588V|PLEC_uc003zag.1_Missense_Mutation_p.I3598V|PLEC_uc003zah.2_Missense_Mutation_p.I3606V|PLEC_uc003zaj.2_Missense_Mutation_p.I3647V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3757	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996247	144996247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144996247C>T	uc003zaf.1	-	32	8323	c.8153G>A	c.(8152-8154)CGG>CAG	p.R2718Q	PLEC_uc003zab.1_Missense_Mutation_p.R2581Q|PLEC_uc003zac.1_Missense_Mutation_p.R2585Q|PLEC_uc003zad.2_Missense_Mutation_p.R2581Q|PLEC_uc003zae.1_Missense_Mutation_p.R2549Q|PLEC_uc003zag.1_Missense_Mutation_p.R2559Q|PLEC_uc003zah.2_Missense_Mutation_p.R2567Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2608Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2718	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000981	145000981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145000981C>A	uc003zaf.1	-	30	4596	c.4426G>T	c.(4426-4428)GAG>TAG	p.E1476*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1339*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1343*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1339*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1307*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1317*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1325*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1366*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1476	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006562	145006562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145006562G>A	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145059959	145059959	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145059959A>C	uc003zal.3	-	3	474	c.366T>G	c.(364-366)CCT>CCG	p.P122P	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.P134P|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.P122P|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Missense_Mutation_p.L15R	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	122						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145140934	145140934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145140934A>G	uc003zax.2	+	12	1882	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	591	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SHARPIN	81858	broad.mit.edu	37	8	145154002	145154002	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145154002G>A	uc003zba.2	-	7	1513	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	343					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537516	145537516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145537516G>A	uc003zbt.3	+	11	1426	c.1256G>A	c.(1255-1257)AGC>AAC	p.S419N	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	419	Transactivation domain.|9aaTAD.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)															---	---	---	---
DGAT1	8694	broad.mit.edu	37	8	145542209	145542209	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145542209C>T	uc003zbv.3	-	6	757	c.489G>A	c.(487-489)GCG>GCA	p.A163A	DGAT1_uc010mfv.2_Silent_p.A163A	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	163	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
SCRT1	83482	broad.mit.edu	37	8	145557088	145557088	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145557088G>A	uc003zbw.1	-	2	918	c.806C>T	c.(805-807)TCG>TTG	p.S269L		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	269	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
GPR172A	79581	broad.mit.edu	37	8	145582977	145582977	+	Silent	SNP	T	C	C	rs146942171		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145582977T>C	uc003zcc.1	+	2	181	c.24T>C	c.(22-24)CGT>CGC	p.R8R	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_Intron|GPR172A_uc003zcd.1_Silent_p.R8R|GPR172A_uc003zce.1_Silent_p.R8R|GPR172A_uc010mfy.1_Silent_p.R8R|GPR172A_uc003zcf.1_Silent_p.R8R|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	8						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145620666	145620666	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145620666T>C	uc003zcj.2	-	27	3155	c.3080A>G	c.(3079-3081)TAC>TGC	p.Y1027C	MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1027					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145641443	145641443	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145641443G>A	uc003zcq.2	-	2	325	c.225C>T	c.(223-225)GGC>GGT	p.G75G	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.G50G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145661146	145661146	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145661146T>C	uc011llg.1	-	17	2685	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	890					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145664103	145664103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145664103C>T	uc011llg.1	-	12	1511	c.1496G>A	c.(1495-1497)GGC>GAC	p.G499D	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	499	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145665767	145665767	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145665767G>A	uc011llg.1	-	10	1272	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	419					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145735993	145735993	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145735993T>C	uc003zdi.1	+	3	1008	c.843T>C	c.(841-843)CCT>CCC	p.P281P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	281	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145745995	145745995	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145745995C>T	uc003zdk.1	+	3	849	c.703C>T	c.(703-705)CGC>TGC	p.R235C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R235C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	235											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
MGC70857	414919	broad.mit.edu	37	8	145753403	145753403	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145753403A>G	uc003zdp.1	-						LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_Intron	NM_001001795	NP_001001795			hypothetical protein LOC414919												0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947422	145947422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145947422C>T	uc003zdv.3	-	5	1879	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)														---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	146003824	146003824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146003824C>A	uc003zdy.3	-	3	198	c.96G>T	c.(94-96)CAG>CAT	p.Q32H	ZNF34_uc010mgb.2_Translation_Start_Site|ZNF34_uc003zdx.3_Missense_Mutation_p.Q11H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146016676	146016676	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146016676T>C	uc003zeb.2	-	4	596	c.485A>G	c.(484-486)AAC>AGC	p.N162S	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N126S|RPL8_uc003zec.2_Missense_Mutation_p.N162S|RPL8_uc010mgc.2_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146017173	146017173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146017173A>G	uc003zeb.2	-	3	376	c.265T>C	c.(265-267)TAT>CAT	p.Y89H	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.Y53H|RPL8_uc003zec.2_Missense_Mutation_p.Y89H|RPL8_uc010mgc.2_Missense_Mutation_p.Y89H	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117366	117366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117366C>T	uc003zfz.2	-	1	1052	c.754G>A	c.(754-756)GGG>AGG	p.G252R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:164038C>G	uc003zga.3	-	5	537	c.431_splice	c.e5-1	p.G144_splice	CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	NM_018491	NP_060961			COBW domain containing 1 isoform 1								ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
KANK1	23189	broad.mit.edu	37	9	710960	710960	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:710960A>C	uc003zgl.1	+	7	843	c.194A>C	c.(193-195)AAG>ACG	p.K65T	KANK1_uc003zgm.2_Missense_Mutation_p.K65T|KANK1_uc003zgn.1_Missense_Mutation_p.K65T|KANK1_uc003zgo.1_Missense_Mutation_p.K65T|KANK1_uc003zgp.1_Missense_Mutation_p.K65T|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	65					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	977247	977247	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:977247C>T	uc003zgw.1	+	1	284	c.246C>T	c.(244-246)AGC>AGT	p.S82S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990339	990339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:990339G>A	uc003zgw.1	+	2	791	c.753G>A	c.(751-753)CCG>CCA	p.P251P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	251					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1057243	1057243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:1057243T>C	uc003zha.2	+	4	1856	c.1656T>C	c.(1654-1656)CCT>CCC	p.P552P	DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039604	2039604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039604G>A	uc003zhc.2	+	4	593	c.494G>A	c.(493-495)AGC>AAC	p.S165N	SMARCA2_uc003zhd.2_Missense_Mutation_p.S165N|SMARCA2_uc010mha.2_Missense_Mutation_p.S156N	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	165					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039854	2039854	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039854G>A	uc003zhc.2	+	4	843	c.744G>A	c.(742-744)ACG>ACA	p.T248T	SMARCA2_uc003zhd.2_Silent_p.T248T|SMARCA2_uc010mha.2_Silent_p.T239T	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	248	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2170423	2170423	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2170423A>G	uc003zhc.2	+	29	4303	c.4204A>G	c.(4204-4206)AAC>GAC	p.N1402D	SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron|SMARCA2_uc011llw.1_Intron|SMARCA2_uc003zhf.2_Missense_Mutation_p.N66D|SMARCA2_uc011llx.1_Intron|SMARCA2_uc003zhe.2_Intron|SMARCA2_uc003zhg.2_Intron|SMARCA2_uc010mhb.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1402					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2635505	2635505	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2635505T>C	uc003zhk.1	+	2	532	c.135T>C	c.(133-135)TGT>TGC	p.C45C	VLDLR_uc003zhl.1_Silent_p.C45C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C45C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	45	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2648781	2648781	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2648781T>C	uc003zhk.1	+	14	2472	c.2075T>C	c.(2074-2076)ATT>ACT	p.I692T	VLDLR_uc003zhl.1_Missense_Mutation_p.I692T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.I651T	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	692	Extracellular (Potential).|LDL-receptor class B 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718173	2718173	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718173A>T	uc003zho.1	+	1	648	c.434A>T	c.(433-435)CAG>CTG	p.Q145L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	145	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718962	2718962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718962A>G	uc003zho.1	+	1	1437	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	408	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2729454	2729454	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2729454C>A	uc003zho.1	+	2	1579	c.1365C>A	c.(1363-1365)ATC>ATA	p.I455I		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3898791	3898791	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3898791G>A	uc003zhw.1	-	6	1757	c.1563C>T	c.(1561-1563)TGC>TGT	p.C521C	GLIS3_uc003zhx.1_Silent_p.C676C|GLIS3_uc010mhf.1_Silent_p.C70C|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.C454C|GLIS3_uc003zhz.1_Silent_p.C454C|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	521					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	4117945	4117945	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4117945G>A	uc003zhw.1	-	3	1262	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	GLIS3_uc003zhx.1_Silent_p.Y511Y|GLIS3_uc003zic.1_Silent_p.Y511Y|GLIS3_uc003zie.1_Silent_p.Y511Y|GLIS3_uc010mhh.1_Silent_p.Y386Y|GLIS3_uc003zid.1_Silent_p.Y289Y|GLIS3_uc010mhi.1_Silent_p.Y318Y|GLIS3_uc003zif.1_Silent_p.Y289Y|GLIS3_uc003zig.1_Silent_p.Y355Y|GLIS3_uc003zih.1_Silent_p.Y289Y|GLIS3_uc003zhy.1_Silent_p.Y289Y|GLIS3_uc003zhz.1_Silent_p.Y289Y|GLIS3_uc003zib.1_Silent_p.Y355Y|GLIS3_uc010mhg.1_Silent_p.Y289Y	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	356	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5044429	5044429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5044429G>A	uc010mhm.2	+	4	490	c.377G>A	c.(376-378)AGT>AAT	p.S126N	JAK2_uc003ziw.2_Missense_Mutation_p.S126N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	126	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5070030	5070030	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5070030T>A	uc010mhm.2	+	11	1732	c.1619T>A	c.(1618-1620)ATC>AAC	p.I540N	JAK2_uc003ziw.2_Missense_Mutation_p.I540N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	540					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.I540_E543>MK(7)|p.I540_D544>MK(1)|p.I540I(1)|p.I540_E543>KK(1)|p.I540_N542>S(1)|p.H538_I540>DLS(1)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
PDCD1LG2	80380	broad.mit.edu	37	9	5557640	5557640	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5557640T>A	uc003zjg.3	+	5	927	c.654T>A	c.(652-654)CAT>CAA	p.H218Q	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.H218Q|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.S217T|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.S127T|PDCD1LG2_uc010mho.1_Missense_Mutation_p.H128Q	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	218	Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7013971	7013971	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7013971T>C	uc003zkh.2	+	14	2732	c.2152T>C	c.(2152-2154)TGT>CGT	p.C718R	KDM4C_uc010mhu.2_Missense_Mutation_p.C740R|KDM4C_uc011lmi.1_Missense_Mutation_p.C718R|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.C718R|KDM4C_uc011lmk.1_Missense_Mutation_p.C463R|KDM4C_uc011lml.1_Missense_Mutation_p.C405R	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	718	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8633320G>A	uc003zkk.2	-	13	1060	c.349C>T	c.(349-351)CGG>TGG	p.R117W	PTPRD_uc003zkp.2_Missense_Mutation_p.R117W|PTPRD_uc003zkq.2_Missense_Mutation_p.R117W|PTPRD_uc003zkr.2_Missense_Mutation_p.R117W|PTPRD_uc003zks.2_Missense_Mutation_p.R117W|PTPRD_uc003zkl.2_Missense_Mutation_p.R117W|PTPRD_uc003zkm.2_Missense_Mutation_p.R117W|PTPRD_uc003zkn.2_Missense_Mutation_p.R117W|PTPRD_uc003zko.2_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13107034	13107034	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13107034A>G	uc010mhy.2	-	45	6107	c.6056T>C	c.(6055-6057)GTC>GCC	p.V2019A	MPDZ_uc003zkx.3_Missense_Mutation_p.V243A|MPDZ_uc003zky.3_Missense_Mutation_p.V582A|MPDZ_uc010mib.2_Missense_Mutation_p.V753A|MPDZ_uc010mhx.2_Missense_Mutation_p.V870A|MPDZ_uc011lmm.1_Missense_Mutation_p.V907A|MPDZ_uc003zkz.3_Missense_Mutation_p.V741A|MPDZ_uc010mhz.2_Missense_Mutation_p.V2015A|MPDZ_uc011lmn.1_Missense_Mutation_p.V1986A|MPDZ_uc003zlb.3_Missense_Mutation_p.V2019A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2048	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168518	13168518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13168518C>T	uc010mia.1	-	21	3158	c.3101G>A	c.(3100-3102)CGA>CAA	p.R1034Q	MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1034Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1034Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1034Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1034Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1034	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13247792	13247792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13247792G>A	uc010mia.1	-	2	82	c.25C>T	c.(25-27)CGG>TGG	p.R9W	MPDZ_uc010mhy.2_Missense_Mutation_p.R9W|MPDZ_uc010mhz.2_Missense_Mutation_p.R9W|MPDZ_uc011lmn.1_Missense_Mutation_p.R9W|MPDZ_uc003zlb.3_Missense_Mutation_p.R9W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	9	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14120524	14120524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14120524A>T	uc003zle.2	-	8	1595	c.1160T>A	c.(1159-1161)ATC>AAC	p.I387N	NFIB_uc003zld.2_Missense_Mutation_p.I135N|NFIB_uc003zlf.2_Missense_Mutation_p.I387N|NFIB_uc011lmo.1_Missense_Mutation_p.I387N	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	387					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)				T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14801642	14801642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14801642T>C	uc003zlm.2	-						FREM1_uc010mic.2_Intron	NM_144966	NP_659403			FRAS1 related extracellular matrix 1 precursor						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842570	14842570	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14842570G>A	uc003zlm.2	-	9	2072	c.1482C>T	c.(1480-1482)TTC>TTT	p.F494F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	494	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15267953	15267953	+	Intron	SNP	G	A	A	rs35213800		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15267953G>A	uc003zlr.1	-						TTC39B_uc010mie.1_Intron|TTC39B_uc011lmq.1_Intron|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Intron|TTC39B_uc010mig.1_Intron|TTC39B_uc011lms.1_Intron	NM_152574	NP_689787			tetratricopeptide repeat domain 39B								binding			ovary(1)	1																		---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16583063	16583063	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16583063T>C	uc003zml.2	-	4	491	c.351A>G	c.(349-351)GTA>GTG	p.V117V	BNC2_uc011lmw.1_Silent_p.V22V|BNC2_uc003zmm.2_Silent_p.V75V|BNC2_uc003zmq.1_Silent_p.V131V|BNC2_uc003zmr.1_Silent_p.V154V|BNC2_uc003zmp.1_Silent_p.V145V|BNC2_uc010mij.1_Silent_p.V39V|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Silent_p.V39V|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17394904	17394904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)														---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17789413	17789413	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17789413T>G	uc003zna.2	+	6	777	c.489T>G	c.(487-489)GGT>GGG	p.G163G	SH3GL2_uc011lmx.1_Silent_p.G128G|SH3GL2_uc011lmy.1_Silent_p.G116G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	163	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18504839G>A	uc003zne.3	+	2	203	c.76G>A	c.(76-78)GCA>ACA	p.A26T	ADAMTSL1_uc003znb.2_Missense_Mutation_p.A26T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.A26T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	26						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18684731	18684731	+	Missense_Mutation	SNP	G	A	A	rs149221350	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18684731G>A	uc003zne.3	+	13	1634	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	ADAMTSL1_uc003znc.3_Missense_Mutation_p.A503T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	503						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826377	18826377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18826377T>C	uc003zne.3	+	22	4157	c.4030T>C	c.(4030-4032)TCC>CCC	p.S1344P	ADAMTSL1_uc003znf.3_Missense_Mutation_p.S45P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1344	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928404	18928404	+	Silent	SNP	G	A	A	rs141278609		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18928404G>A	uc003zni.1	-	4	1349	c.1071C>T	c.(1069-1071)CCC>CCT	p.P357P	FAM154A_uc010mip.1_Silent_p.P165P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	357										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18941824	18941824	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18941824G>A	uc003zni.1	-	3	510	c.232C>T	c.(232-234)CCT>TCT	p.P78S	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	78										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19446249	19446249	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19446249C>T	uc003zny.1	+						ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Intron	NM_001010887	NP_001010887			alkaline ceramidase 2						ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2																		---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20881935	20881935	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20881935C>T	uc003zog.1	+	22	2746	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	KIAA1797_uc003zoh.1_Missense_Mutation_p.H231Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	795						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)														---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333123	21333123	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21333123T>A	uc003zoy.2	-	1	2307	c.1736A>T	c.(1735-1737)GAT>GTT	p.D579V	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	579	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)														---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409397	21409397	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21409397T>A	uc003zpc.1	+	1	252	c.222T>A	c.(220-222)GCT>GCA	p.A74A		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)														---	---	---	---
IFNE	338376	broad.mit.edu	37	9	21481336	21481336	+	Missense_Mutation	SNP	G	T	T	rs143925423		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21481336G>T	uc003zpg.2	-	1	977	c.358C>A	c.(358-360)CTA>ATA	p.L120I	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	120					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0																		---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22447088	22447088	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:22447088C>G	uc003zpp.1	+	1	249	c.24C>G	c.(22-24)AGC>AGG	p.S8R		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	8					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26842414	26842414	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26842414G>T	uc003zqc.2	-	6	983	c.971C>A	c.(970-972)CCT>CAT	p.P324H	C9orf82_uc003zqb.2_Missense_Mutation_p.P179H	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	324											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26887301	26887301	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26887301A>G	uc003zqc.2	-						C9orf82_uc003zqb.2_Intron	NM_024828	NP_079104			hypothetical protein LOC79886												0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26917168	26917168	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26917168G>A	uc003zqd.2	-						PLAA_uc003zqe.2_Intron	NM_001031689	NP_001026859			phospholipase A2-activating protein						phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26919405	26919405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26919405A>T	uc003zqd.2	-	9	1745	c.1320T>A	c.(1318-1320)AAT>AAA	p.N440K	PLAA_uc003zqe.2_Missense_Mutation_p.N440K	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	440	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26935065	26935065	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26935065A>G	uc003zqd.2	-	2	714	c.289T>C	c.(289-291)TTC>CTC	p.F97L	PLAA_uc003zqe.2_Missense_Mutation_p.F97L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	97	WD 2.			F -> L (in Ref. 5; AAD42075).	phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
LRRC19	64922	broad.mit.edu	37	9	26997993	26997993	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26997993A>G	uc003zqh.2	-	3	439	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	110	LRR 3.|Extracellular (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)														---	---	---	---
MOBKL2B	79817	broad.mit.edu	37	9	27455355	27455355	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27455355A>G	uc003zqn.2	-	2	690	c.194T>C	c.(193-195)GTG>GCG	p.V65A		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	65							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32418352	32418352	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32418352G>A	uc003zqw.3	+	6	656	c.501G>A	c.(499-501)ATG>ATA	p.M167I	ACO1_uc010mjh.1_Missense_Mutation_p.M1I|ACO1_uc003zqx.3_Missense_Mutation_p.M167I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	167					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630784	32630784	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630784A>G	uc003zrg.1	-	1	4884	c.4794T>C	c.(4792-4794)AGT>AGC	p.S1598S	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1598	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633593	32633593	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32633593A>T	uc003zrg.1	-	1	2075	c.1985T>A	c.(1984-1986)ATC>AAC	p.I662N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	662					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634929	32634929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32634929C>T	uc003zrg.1	-	1	739	c.649G>A	c.(649-651)GCA>ACA	p.A217T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	217					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33271164	33271164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33271164A>G	uc003zsl.3	+	6	685	c.330A>G	c.(328-330)AAA>AAG	p.K110K	SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Silent_p.K110K|CHMP5_uc011lnv.1_Silent_p.K110K|CHMP5_uc003zsn.2_RNA	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5	110	Potential.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)															---	---	---	---
AQP7	364	broad.mit.edu	37	9	33386120	33386120	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33386120G>A	uc003zst.2	-	6	652	c.480C>T	c.(478-480)ACC>ACT	p.T160T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T103T|AQP7_uc010mjs.2_Silent_p.T68T|AQP7_uc010mjt.2_Silent_p.T68T|AQP7_uc011lnx.1_Silent_p.T160T|AQP7_uc011lny.1_Silent_p.T159T|AQP7_uc003zss.3_Silent_p.T68T|AQP7_uc011lnz.1_Silent_p.T68T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	160	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33463366	33463366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33463366C>T	uc003zsz.2	-	24	3169	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R77H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R1020H|NOL6_uc011lob.1_Missense_Mutation_p.R971H|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1023					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33468037	33468037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33468037T>C	uc003zsz.2	-	11	1516	c.1415A>G	c.(1414-1416)CAT>CGT	p.H472R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H472R|NOL6_uc010mjv.2_Missense_Mutation_p.H469R|NOL6_uc011lob.1_Missense_Mutation_p.H420R|NOL6_uc003ztb.1_Missense_Mutation_p.H472R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	472					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33973225	33973225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33973225A>G	uc003ztq.1	-	7	644	c.531T>C	c.(529-531)CGT>CGC	p.R177R	UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Silent_p.R102R|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	177										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)														---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34256008	34256008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34256008T>C	uc003zua.3	-	11	3717	c.3597A>G	c.(3595-3597)GTA>GTG	p.V1199V	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1199					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)															---	---	---	---
NUDT2	318	broad.mit.edu	37	9	34343290	34343290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34343290A>G	uc003zub.2	+	5	654	c.296A>G	c.(295-297)AAG>AGG	p.K99R	NUDT2_uc003zuc.2_Missense_Mutation_p.K99R|NUDT2_uc003zud.2_Missense_Mutation_p.K99R	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	99	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34372048	34372048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34372048A>G	uc003zue.3	-	3	1061	c.894T>C	c.(892-894)CGT>CGC	p.R298R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
GALT	2592	broad.mit.edu	37	9	34646774	34646774	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34646774C>A	uc003zve.2	+	1	140	c.73C>A	c.(73-75)CGG>AGG	p.R25R	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_5'UTR|GALT_uc011lop.1_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	25					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GALT	2592	broad.mit.edu	37	9	34647969	34647969	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34647969T>A	uc003zve.2	+						GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_Intron|GALT_uc003zvh.2_Intron|GALT_uc011lop.1_Intron|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146			galactose-1-phosphate uridylyltransferase						galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
GALT	2592	broad.mit.edu	37	9	34648762	34648762	+	Missense_Mutation	SNP	C	T	T	rs111033749		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34648762C>T	uc003zve.2	+	8	758	c.691C>T	c.(691-693)CGT>TGT	p.R231C	GALT_uc003zvf.2_Missense_Mutation_p.R122C|GALT_uc003zvg.2_Missense_Mutation_p.R103C|GALT_uc003zvh.2_Missense_Mutation_p.R183C|GALT_uc011lop.1_Missense_Mutation_p.R183C|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	231			R -> H (in GALCT; 15% of normal activity).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971621	34971621	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34971621G>A	uc003zvq.2	+	2	504	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	KIAA1045_uc003zvr.2_Missense_Mutation_p.R109Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	109							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34978047	34978047	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34978047T>A	uc003zvq.2	+	8	1320	c.1142T>A	c.(1141-1143)GTC>GAC	p.V381D	KIAA1045_uc003zvr.2_Missense_Mutation_p.V381D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	381							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043238	35043238	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35043238C>T	uc003zvw.2	+	2	641	c.612C>T	c.(610-612)AGC>AGT	p.S204S	C9orf131_uc003zvu.2_Silent_p.S156S|C9orf131_uc003zvv.2_Silent_p.S131S|C9orf131_uc003zvx.2_Silent_p.S169S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	204											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35078616	35078616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35078616C>T	uc003zwb.1	-	3	785	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R98Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	98					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)					Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091255	35091255	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35091255T>A	uc003zwd.2	-	7	3025	c.2629A>T	c.(2629-2631)ATA>TTA	p.I877L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.I460L|PIGO_uc003zwf.2_Missense_Mutation_p.I460L|PIGO_uc003zwg.1_Missense_Mutation_p.I440L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	877	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
KIAA1539	80256	broad.mit.edu	37	9	35107420	35107420	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35107420G>T	uc003zwl.2	-	3	1177	c.852C>A	c.(850-852)CCC>CCA	p.P284P	KIAA1539_uc003zwm.2_Silent_p.P284P|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.P284P|KIAA1539_uc003zwp.1_Silent_p.P284P|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	284						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35259056	35259056	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35259056G>A	uc003zwq.2	+						UNC13B_uc010mkl.1_Intron|UNC13B_uc003zwr.2_Intron	NM_006377	NP_006368			UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)													OREG0019168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35380473	35380473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35380473C>T	uc003zwq.2	+	17	2257	c.1965C>T	c.(1963-1965)TGC>TGT	p.C655C	UNC13B_uc003zwr.2_Silent_p.C655C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	655	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35382434	35382434	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35382434C>T	uc003zwq.2	+	20	2781	c.2489C>T	c.(2488-2490)GCC>GTC	p.A830V	UNC13B_uc003zwr.2_Missense_Mutation_p.A830V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	830					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547295	35547295	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547295C>T	uc003zww.2	+	2	1032	c.777C>T	c.(775-777)TCC>TCT	p.S259S	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.S259S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	259						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547634	35547634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547634G>A	uc003zww.2	+	2	1371	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P372P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	372						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35561189	35561189	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35561189C>T	uc003zww.2	+	12	4616	c.4361C>T	c.(4360-4362)GCA>GTA	p.A1454V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1454V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1454	SH3.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609008	35609008	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35609008C>T	uc003zxa.2	+	10	1486	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Missense_Mutation_p.R224W	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	384					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
SIT1	27240	broad.mit.edu	37	9	35650822	35650822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35650822G>A	uc003zxe.1	-	1	126	c.29C>T	c.(28-30)GCA>GTA	p.A10V	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	10					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TPM2	7169	broad.mit.edu	37	9	35685136	35685136	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35685136G>A	uc003zxq.2	-	6	803	c.564C>T	c.(562-564)AGC>AGT	p.S188S	TPM2_uc003zxr.2_Intron|TPM2_uc003zxs.2_Intron|TPM2_uc010mkz.2_Silent_p.S188S|TPM2_uc011lpa.1_3'UTR	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	188	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720857	35720857	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35720857C>T	uc003zxt.2	-	11	1512	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	386	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
HINT2	84681	broad.mit.edu	37	9	35813042	35813042	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35813042T>C	uc003zyh.2	-	5					SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_3'UTR	NM_032593	NP_115982			PKCI-1-related HIT protein precursor						apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity				0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37304177	37304177	+	Intron	SNP	T	C	C	rs138557652		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37304177T>C	uc003zzq.2	+						ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Intron|ZCCHC7_uc010mlt.2_Intron	NM_032226	NP_115602			zinc finger, CCHC domain containing 7								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)														---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440560	37440560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37440560G>A	uc003zzx.2	-	2	2189	c.1989C>T	c.(1987-1989)ACC>ACT	p.T663T		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	663	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)														---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37521836	37521836	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37521836C>T	uc004aab.2	-	8	1980	c.1931_splice	c.e8-1	p.A644_splice	FBXO10_uc004aac.2_Splice_Site_p.A660_splice|FBXO10_uc004aad.2_Splice_Site_p.A194_splice	NM_012166	NP_036298			F-box protein 10							ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)														---	---	---	---
MCART1	92014	broad.mit.edu	37	9	37888102	37888102	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37888102T>G	uc004aau.2	-	3	1190	c.446A>C	c.(445-447)AAG>ACG	p.K149T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K149T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	149	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)														---	---	---	---
ANKRD20A3	441425	broad.mit.edu	37	9	42368597	42368597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:42368597C>T	uc004acd.2	+	1	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D	ANKRD20A3_uc010mmv.2_Silent_p.D61D	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	61											0																		---	---	---	---
FOXD4L3	286380	broad.mit.edu	37	9	70918913	70918913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70918913G>A	uc004agm.1	+	1	1131	c.1046G>A	c.(1045-1047)CGT>CAT	p.R349H		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)														---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70999325	70999325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70999325G>A	uc004agr.2	+	3	665	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	146					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836211	71836211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836211C>T	uc004ahe.2	+	5	951	c.751C>T	c.(751-753)CGA>TGA	p.R251*	TJP2_uc011lrs.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahb.1_Nonsense_Mutation_p.R228*|TJP2_uc011lrt.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahd.2_Nonsense_Mutation_p.R251*|TJP2_uc004ahf.2_Nonsense_Mutation_p.R251*|TJP2_uc011lru.1_Nonsense_Mutation_p.R255*|TJP2_uc011lrv.1_Nonsense_Mutation_p.R273*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	251					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
APBA1	320	broad.mit.edu	37	9	72046302	72046302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72046302T>C	uc004ahh.2	-	13	2731	c.2455A>G	c.(2455-2457)ACA>GCA	p.T819A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	819	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1																		---	---	---	---
PTAR1	375743	broad.mit.edu	37	9	72338404	72338404	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72338404G>T	uc004ahj.3	-	6	807	c.785C>A	c.(784-786)CCT>CAT	p.P262H	PTAR1_uc004ahi.2_Missense_Mutation_p.P183H	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	262					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
C9orf135	138255	broad.mit.edu	37	9	72521056	72521056	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72521056T>A	uc004ahl.2	+	6					C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_3'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	NM_001010940	NP_001010940			hypothetical protein LOC138255							integral to membrane				ovary(1)	1																		---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72892398	72892398	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72892398A>G	uc004ahr.2	+							NM_015110	NP_055925			SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KLF9	687	broad.mit.edu	37	9	73002756	73002756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73002756C>T	uc004aht.2	-	2	1965	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	224	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73240126	73240126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73240126T>C	uc004aid.2	-	13	1998	c.1754A>G	c.(1753-1755)AAC>AGC	p.N585S	TRPM3_uc004ahu.2_Missense_Mutation_p.N415S|TRPM3_uc004ahv.2_Missense_Mutation_p.N397S|TRPM3_uc004ahw.2_Missense_Mutation_p.N457S|TRPM3_uc004ahx.2_Missense_Mutation_p.N444S|TRPM3_uc004ahy.2_Missense_Mutation_p.N457S|TRPM3_uc004ahz.2_Missense_Mutation_p.N444S|TRPM3_uc004aia.2_Missense_Mutation_p.N432S|TRPM3_uc004aib.2_Missense_Mutation_p.N432S|TRPM3_uc004aic.2_Missense_Mutation_p.N585S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	610	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74313130	74313130	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74313130A>T	uc011lsa.1	-						TMEM2_uc011lrz.1_Intron|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74315635	74315635	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74315635T>A	uc011lsa.1	-	19	3840	c.3300A>T	c.(3298-3300)GAA>GAT	p.E1100D	TMEM2_uc011lrz.1_Missense_Mutation_p.E93D|TMEM2_uc010mos.2_Missense_Mutation_p.E1037D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1100						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74319730	74319730	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74319730T>C	uc011lsa.1	-						TMEM2_uc011lrz.1_5'UTR|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74360123	74360123	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74360123C>T	uc011lsa.1	-	4	1385	c.845G>A	c.(844-846)AGT>AAT	p.S282N	TMEM2_uc010mos.2_Missense_Mutation_p.S282N|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	282						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
GDA	9615	broad.mit.edu	37	9	74817550	74817550	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74817550A>G	uc004aiq.2	+	3	459	c.276A>G	c.(274-276)GGA>GGG	p.G92G	GDA_uc011lse.1_Silent_p.G18G|GDA_uc011lsf.1_Silent_p.G18G|GDA_uc004air.2_Silent_p.G92G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G50G|GDA_uc004ait.1_Silent_p.G18G	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)														---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75355124	75355124	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75355124A>C	uc004aiz.1	+	9	992	c.452A>C	c.(451-453)AAG>ACG	p.K151T	TMC1_uc010moz.1_Missense_Mutation_p.K109T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.K5T|TMC1_uc010mpa.1_Missense_Mutation_p.K5T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	151	Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				ovary(1)	1																		---	---	---	---
RORB	6096	broad.mit.edu	37	9	77280434	77280434	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77280434G>A	uc004aji.2	+	7	1005	c.956G>A	c.(955-957)TGC>TAC	p.C319Y	RORB_uc004ajh.2_Missense_Mutation_p.C308Y	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	319	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77397726	77397726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77397726A>G	uc004ajl.1	-	22	3201	c.2963T>C	c.(2962-2964)CTG>CCG	p.L988P	TRPM6_uc004ajk.1_Missense_Mutation_p.L983P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.L274P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	988	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
OSTF1	26578	broad.mit.edu	37	9	77755767	77755767	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77755767A>G	uc004ajv.3	+	9	716	c.505A>G	c.(505-507)AGA>GGA	p.R169G	OSTF1_uc004ajw.3_Missense_Mutation_p.R126G|OSTF1_uc004ajx.3_Missense_Mutation_p.R172G	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	169					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	78907144	78907144	+	IGR	SNP	T	C	C	rs148732504		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78907144T>C								PCSK5 (98806 upstream) : RFK (93289 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	78953147	78953147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78953147T>C	uc004akc.1	+	7	1145	c.925T>C	c.(925-927)TAT>CAT	p.Y309H						Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.																														---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79323928	79323928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79323928A>G	uc010mpk.2	-	8	3386	c.3262T>C	c.(3262-3264)TAC>CAC	p.Y1088H		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1088					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465382	79465382	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465382G>A	uc010mpk.2	-	3	465	c.341C>T	c.(340-342)GCG>GTG	p.A114V	PRUNE2_uc004akn.2_Missense_Mutation_p.A114V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	114					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465470	79465470	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465470A>G	uc010mpk.2	-	3	377	c.253T>C	c.(253-255)TTC>CTC	p.F85L	PRUNE2_uc004akn.2_Missense_Mutation_p.F85L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	85					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79896801	79896801	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79896801G>A	uc004akr.2	+	28	3183	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	VPS13A_uc004akp.3_Missense_Mutation_p.D975N|VPS13A_uc004akq.3_Missense_Mutation_p.D975N|VPS13A_uc004aks.2_Missense_Mutation_p.D975N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	975					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79946953	79946953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79946953T>C	uc004akr.2	+	46	6279	c.6019T>C	c.(6019-6021)TCT>CCT	p.S2007P	VPS13A_uc004akp.3_Missense_Mutation_p.S2007P|VPS13A_uc004akq.3_Missense_Mutation_p.S2007P|VPS13A_uc004aks.2_Missense_Mutation_p.S1968P|VPS13A_uc004akt.2_Missense_Mutation_p.S347P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2007					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80144131	80144131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80144131T>C	uc004aku.2	-	2	686	c.163A>G	c.(163-165)ATG>GTG	p.M55V		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	55					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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			ovary(2)	2																		---	---	---	---
GNAQ	2776	broad.mit.edu	37	9	80343493	80343493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80343493T>C	uc004akw.2	-	6	867	c.826A>G	c.(826-828)AAA>GAA	p.K276E	GNAQ_uc011lso.1_Missense_Mutation_p.K74E	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	276	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193								Mis		uveal melanoma								---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80915531	80915531	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80915531T>C	uc004ala.2	+	2	142	c.74T>C	c.(73-75)ATA>ACA	p.I25T	PSAT1_uc004alb.2_Missense_Mutation_p.I25T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	25					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80943013	80943013	+	Missense_Mutation	SNP	C	T	T	rs113824905		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80943013C>T	uc004ala.2	+	8	984	c.916C>T	c.(916-918)CGC>TGC	p.R306C	PSAT1_uc004alb.2_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	306					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006496	82006496	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006496C>T								None (None upstream) : TLE4 (180382 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006606	82006606	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006606G>A								None (None upstream) : TLE4 (180272 downstream)																																			---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82242307	82242307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82242307C>T	uc004ald.2	+	6	1162	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	TLE4_uc004alc.2_Nonsense_Mutation_p.Q112*|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Nonsense_Mutation_p.Q105*|TLE4_uc004alf.2_Nonsense_Mutation_p.Q50*	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82319820	82319820	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82319820A>T	uc004ald.2	+						TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936			transducin-like enhancer protein 4											lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84199195	84199195	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84199195C>T	uc004aly.2	-	20	2672	c.2231G>A	c.(2230-2232)AGC>AAC	p.S744N	TLE1_uc004alz.2_Missense_Mutation_p.S754N|TLE1_uc011lsr.1_Missense_Mutation_p.S729N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	744	WD 6.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84248267	84248267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84248267C>T	uc004aly.2	-	8	1031	c.590G>A	c.(589-591)GGC>GAC	p.G197D	TLE1_uc004alz.2_Missense_Mutation_p.G207D|TLE1_uc011lsr.1_Missense_Mutation_p.G197D|TLE1_uc004ama.1_Missense_Mutation_p.G197D|TLE1_uc011lss.1_Intron	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	197	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606307	84606307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606307G>A	uc004amn.2	+	4	969	c.922G>A	c.(922-924)GAT>AAT	p.D308N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	308						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606581	84606581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606581T>C	uc004amn.2	+	4	1243	c.1196T>C	c.(1195-1197)ATA>ACA	p.I399T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	399						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84607051	84607051	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84607051C>T	uc004amn.2	+	4	1713	c.1666C>T	c.(1666-1668)CCT>TCT	p.P556S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	556						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608052	84608052	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608052C>A	uc004amn.2	+	4	2714	c.2667C>A	c.(2665-2667)TCC>TCA	p.S889S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	889						integral to membrane					0																		---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85612040	85612040	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85612040A>T	uc004amo.1	-	14	2068	c.1807T>A	c.(1807-1809)TTC>ATC	p.F603I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	603					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3																		---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85913663	85913663	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85913663C>A	uc004ams.1	-	12	1272	c.1070G>T	c.(1069-1071)AGA>ATA	p.R357I	FRMD3_uc004amr.1_Missense_Mutation_p.R343I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	357						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86276735	86276735	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86276735A>C	uc004amv.2	-	11	2311	c.1737T>G	c.(1735-1737)GCT>GCG	p.A579A	UBQLN1_uc004amw.2_Silent_p.A551A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	579	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86294735	86294735	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86294735A>T	uc004amv.2	-	4	1240	c.666T>A	c.(664-666)AAT>AAA	p.N222K	UBQLN1_uc004amw.2_Missense_Mutation_p.N222K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	222					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
C9orf64	84267	broad.mit.edu	37	9	86570365	86570365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86570365A>G	uc004anb.2	-	2	776	c.528T>C	c.(526-528)AAT>AAC	p.N176N	C9orf64_uc004anc.2_Silent_p.N35N	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	176											0																		---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87285819	87285819	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87285819C>T	uc004aoa.1	+	4	1094	c.156C>T	c.(154-156)ATC>ATT	p.I52I	NTRK2_uc004anv.1_Silent_p.I52I|NTRK2_uc004any.1_Silent_p.I52I|NTRK2_uc004anz.1_Silent_p.I52I|NTRK2_uc011lsz.1_Silent_p.I52I|NTRK2_uc011lta.1_Silent_p.I52I|NTRK2_uc004aob.1_Silent_p.I52I|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	52	Extracellular (Potential).|LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87356849	87356849	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87356849A>G	uc004aoa.1	+						NTRK2_uc004anv.1_Intron|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Intron|NTRK2_uc011ltb.1_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87425480	87425480	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87425480C>A	uc004aoa.1	+						NTRK2_uc004anv.1_Missense_Mutation_p.P461T|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Missense_Mutation_p.P474T|NTRK2_uc011ltb.1_Missense_Mutation_p.P318T|NTRK2_uc004aoc.2_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87635214	87635214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87635214G>A	uc004aoa.1	+	19	3156	c.2218G>A	c.(2218-2220)GGG>AGG	p.G740R	NTRK2_uc004anz.1_Missense_Mutation_p.G756R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	740	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88234216	88234216	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88234216A>C	uc011ltd.1	-	15	2133	c.2100T>G	c.(2098-2100)AAT>AAG	p.N700K	AGTPBP1_uc004aod.3_Missense_Mutation_p.N326K|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N598K|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N660K|AGTPBP1_uc011lte.1_Missense_Mutation_p.N712K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	700					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7																		---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88943388	88943388	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88943388C>T	uc004aoq.2	-	11	1690	c.1475G>A	c.(1474-1476)AGC>AAC	p.S492N	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S369N|ZCCHC6_uc004aou.2_Missense_Mutation_p.S492N	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	492					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90254619	90254619	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90254619G>C	uc004apc.2	+						DAPK1_uc004ape.2_Intron|DAPK1_uc004apd.2_Intron|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Intron	NM_004938	NP_004929			death-associated protein kinase 1						apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2														Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				---	---	---	---
C9orf79	286234	broad.mit.edu	37	9	90503684	90503684	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90503684G>A	uc004app.3	+	4	4317	c.4282G>A	c.(4282-4284)GGC>AGC	p.G1428S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1428						integral to membrane				ovary(3)	3																		---	---	---	---
S1PR3	1903	broad.mit.edu	37	9	91617218	91617218	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91617218A>G	uc004aqe.2	+	2	1499	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	368	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91972374	91972374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91972374A>G	uc004aqj.1	+	15	2242	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	SECISBP2_uc011ltk.1_Missense_Mutation_p.Q720R|SECISBP2_uc004aqk.1_Missense_Mutation_p.Q648R|SECISBP2_uc010mqo.1_Missense_Mutation_p.Q426R|SECISBP2_uc011ltl.1_Missense_Mutation_p.Q653R	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	721					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92003858	92003858	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92003858C>T	uc004aqo.1	-	12	1451	c.879G>A	c.(877-879)CTG>CTA	p.L293L	SEMA4D_uc011ltm.1_Silent_p.L293L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L291L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	293	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92008521	92008521	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92008521C>T	uc004aqo.1	-	9	1036	c.464G>A	c.(463-465)AGA>AAA	p.R155K	SEMA4D_uc011ltm.1_Missense_Mutation_p.R155K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R153K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	155	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606454	93606454	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93606454C>T	uc004aqz.2	+	2	479	c.274C>T	c.(274-276)CAC>TAC	p.H92Y	SYK_uc004aqy.2_Missense_Mutation_p.H92Y|SYK_uc004ara.2_Missense_Mutation_p.H92Y|SYK_uc004arb.2_Missense_Mutation_p.H92Y|SYK_uc004arc.2_Missense_Mutation_p.H92Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	92	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
SYK	6850	broad.mit.edu	37	9	93636501	93636501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93636501G>A	uc004aqz.2	+	8	1136	c.931G>A	c.(931-933)GGG>AGG	p.G311R	SYK_uc004ara.2_Missense_Mutation_p.G288R|SYK_uc004arb.2_Missense_Mutation_p.G288R|SYK_uc004arc.2_Missense_Mutation_p.G311R|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	311	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
AUH	549	broad.mit.edu	37	9	93979588	93979588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93979588C>T	uc004arf.3	-	8	900	c.865G>A	c.(865-867)GCA>ACA	p.A289T	AUH_uc004arg.3_Missense_Mutation_p.A260T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	289					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172249	94172249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172249T>C	uc004arh.2	-	2	1163	c.768A>G	c.(766-768)TCA>TCG	p.S256S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94486078C>T	uc004arj.1	-	9	2897	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94487031	94487031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94487031G>A	uc004arj.1	-	9	1944	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	ROR2_uc004ari.1_Missense_Mutation_p.T442M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	582	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95040154	95040154	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95040154A>T	uc004art.1	-	9	1142	c.885T>A	c.(883-885)TAT>TAA	p.Y295*	IARS_uc004ars.1_Nonsense_Mutation_p.Y140*|IARS_uc004aru.3_Nonsense_Mutation_p.Y295*|IARS_uc010mqr.2_Nonsense_Mutation_p.Y185*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	295					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95077604	95077604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95077604C>T	uc004arv.2	-	7	1640	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E367K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	435					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95258669	95258669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95258669T>A	uc004ash.2	-	10	2093	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Missense_Mutation_p.E676D|ECM2_uc004asg.2_Missense_Mutation_p.E654D|ECM2_uc010mqz.1_Missense_Mutation_p.E98D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	676	LRR 13.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2																		---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95418797	95418797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95418797C>T	uc004asl.1	-	3	443	c.166G>A	c.(166-168)GTG>ATG	p.V56M		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	56					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95482980	95482980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95482980G>A	uc004aso.1	-	4	721	c.664C>T	c.(664-666)CTC>TTC	p.L222F	BICD2_uc004asp.1_Missense_Mutation_p.L222F	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	222	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95485026	95485026	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95485026C>T	uc004aso.1	-	3	575	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	BICD2_uc004asp.1_Missense_Mutation_p.R173Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	173	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95491462	95491462	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95491462C>T	uc004aso.1	-	2	354	c.297G>A	c.(295-297)CGG>CGA	p.R99R	BICD2_uc004asp.1_Silent_p.R99R	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	99	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95780478	95780478	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95780478T>A	uc004asw.2	+	11	1964	c.1336T>A	c.(1336-1338)TCC>ACC	p.S446T	FGD3_uc004asx.2_Missense_Mutation_p.S446T|FGD3_uc004asz.2_Missense_Mutation_p.S446T|FGD3_uc004ata.2_Missense_Mutation_p.S249T|FGD3_uc011luc.1_Missense_Mutation_p.S49T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	446	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95795136	95795136	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95795136T>C	uc004asw.2	+	16	2394	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A	FGD3_uc004asx.2_Missense_Mutation_p.V589A|FGD3_uc004asz.2_Missense_Mutation_p.V589A|FGD3_uc011luc.1_Missense_Mutation_p.V192A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	589					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96294524	96294524	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96294524T>C	uc004atw.2	+	10	1847	c.1822T>C	c.(1822-1824)TAT>CAT	p.Y608H	FAM120A_uc004atx.2_Missense_Mutation_p.Y390H|FAM120A_uc004aty.2_Missense_Mutation_p.Y389H|FAM120A_uc004atz.2_Missense_Mutation_p.Y257H|FAM120A_uc010mrg.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	608						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96312895	96312895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96312895G>A	uc004atw.2	+	12	2221	c.2196G>A	c.(2194-2196)CGG>CGA	p.R732R	FAM120A_uc004aty.2_Silent_p.R513R|FAM120A_uc004atz.2_Silent_p.R381R|FAM120A_uc010mrg.2_Silent_p.R45R	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	732						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98209422	98209422	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98209422C>A	uc004avk.3	-	23	4304	c.4116G>T	c.(4114-4116)ACG>ACT	p.T1372T	PTCH1_uc010mrn.2_Silent_p.T164T|PTCH1_uc010mro.2_Silent_p.T1221T|PTCH1_uc010mrp.2_Silent_p.T1221T|PTCH1_uc010mrq.2_Silent_p.T1221T|PTCH1_uc004avl.3_Silent_p.T1221T|PTCH1_uc010mrr.2_Silent_p.T1306T|PTCH1_uc004avm.3_Silent_p.T1371T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1372	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98222017	98222017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98222017C>T	uc004avk.3	-	17	2940	c.2752G>A	c.(2752-2754)GCT>ACT	p.A918T	PTCH1_uc010mro.2_Missense_Mutation_p.A767T|PTCH1_uc010mrp.2_Missense_Mutation_p.A767T|PTCH1_uc010mrq.2_Missense_Mutation_p.A767T|PTCH1_uc004avl.3_Missense_Mutation_p.A767T|PTCH1_uc010mrr.2_Missense_Mutation_p.A852T|PTCH1_uc004avm.3_Missense_Mutation_p.A917T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	918	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98231206	98231206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98231206T>C	uc004avk.3	-	14	2265	c.2077A>G	c.(2077-2079)ACA>GCA	p.T693A	PTCH1_uc010mro.2_Missense_Mutation_p.T542A|PTCH1_uc010mrp.2_Missense_Mutation_p.T542A|PTCH1_uc010mrq.2_Missense_Mutation_p.T542A|PTCH1_uc004avl.3_Missense_Mutation_p.T542A|PTCH1_uc010mrr.2_Missense_Mutation_p.T627A|PTCH1_uc004avm.3_Missense_Mutation_p.T692A|PTCH1_uc010mrs.1_Missense_Mutation_p.T361A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	693	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98232174	98232174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98232174G>A	uc004avk.3	-	13	1956	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F	PTCH1_uc010mro.2_Missense_Mutation_p.L439F|PTCH1_uc010mrp.2_Missense_Mutation_p.L439F|PTCH1_uc010mrq.2_Missense_Mutation_p.L439F|PTCH1_uc004avl.3_Missense_Mutation_p.L439F|PTCH1_uc010mrr.2_Missense_Mutation_p.L524F|PTCH1_uc004avm.3_Missense_Mutation_p.L589F|PTCH1_uc010mrs.1_Missense_Mutation_p.L258F	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	590	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98242681	98242681	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98242681A>T	uc004avk.3	-	6	1124	c.936T>A	c.(934-936)AAT>AAA	p.N312K	PTCH1_uc010mro.2_Missense_Mutation_p.N161K|PTCH1_uc010mrp.2_Missense_Mutation_p.N161K|PTCH1_uc010mrq.2_Missense_Mutation_p.N161K|PTCH1_uc004avl.3_Missense_Mutation_p.N161K|PTCH1_uc010mrr.2_Missense_Mutation_p.N246K|PTCH1_uc004avm.3_Missense_Mutation_p.N311K|PTCH1_uc010mrs.1_Missense_Mutation_p.N32K|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	312	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98678046	98678046	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98678046C>G	uc004avt.3	+	5	1306	c.918C>G	c.(916-918)GTC>GTG	p.V306V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V8V|C9orf102_uc010mry.1_Silent_p.V8V|C9orf102_uc010mrz.2_Silent_p.V117V	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	306	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98683463	98683463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98683463T>C	uc004avt.3	+	7	1586	c.1198T>C	c.(1198-1200)TAT>CAT	p.Y400H	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y102H|C9orf102_uc010mry.1_Missense_Mutation_p.Y102H|C9orf102_uc010mrz.2_Missense_Mutation_p.Y211H|C9orf102_uc004avu.2_5'Flank	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	400					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
SLC35D2	11046	broad.mit.edu	37	9	99113464	99113464	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99113464T>A	uc004awc.2	-						SLC35D2_uc010msd.2_Intron|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_3'UTR	NM_007001	NP_008932			solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99521344	99521344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99521344G>A	uc004awn.1	-	6	1957	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ZNF510_uc004awo.1_Missense_Mutation_p.H590Y	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	590	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99522242	99522242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99522242A>T	uc004awn.1	-	6	1059	c.870T>A	c.(868-870)AAT>AAA	p.N290K	ZNF510_uc004awo.1_Missense_Mutation_p.N290K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100074423	100074423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100074423G>A	uc011lut.1	+	16	1611	c.838G>A	c.(838-840)GCC>ACC	p.A280T	KIAA1529_uc004axe.1_Missense_Mutation_p.A280T|KIAA1529_uc004axg.1_Missense_Mutation_p.A141T|KIAA1529_uc011lus.1_Missense_Mutation_p.A141T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A141T|KIAA1529_uc011luv.1_Missense_Mutation_p.A141T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100093058	100093058	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100093058G>T	uc011lut.1	+						KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Intron|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron|KIAA1529_uc004axf.2_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100204028	100204028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100204028G>A	uc004axj.2	+	6	951	c.726G>A	c.(724-726)AAG>AAA	p.K242K	TDRD7_uc011lux.1_Silent_p.K168K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	242	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100222954	100222954	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100222954G>T	uc004axj.2	+	7	1575	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	TDRD7_uc011lux.1_Missense_Mutation_p.E376D	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	450					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100403911	100403911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100403911A>G	uc004axq.2	+	3	650	c.191A>G	c.(190-192)TAC>TGC	p.Y64C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	64	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100425241	100425241	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100425241A>G	uc004axq.2	+	18	2168	c.1709A>G	c.(1708-1710)CAT>CGT	p.H570R		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	570					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101533295	101533295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101533295G>A	uc004ayu.2	-	10	1876	c.1855C>T	c.(1855-1857)CCC>TCC	p.P619S	ANKS6_uc004ayt.2_Missense_Mutation_p.P318S|ANKS6_uc004ayv.1_Missense_Mutation_p.P81S|ANKS6_uc004ayw.1_Missense_Mutation_p.P201S|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	619	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101602296	101602296	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101602296G>A	uc004ayz.2	+	7	1225	c.1225G>A	c.(1225-1227)GAT>AAT	p.D409N		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	409	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101807006	101807006	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101807006T>C	uc004azb.1	+							NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101824277	101824277	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101824277G>A	uc004azb.1	+	37	3633	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1143	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103002483	103002483	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103002483A>G	uc004bap.1	+	6	969	c.757A>G	c.(757-759)AAC>GAC	p.N253D	INVS_uc010mta.1_Missense_Mutation_p.N157D|INVS_uc011lve.1_Missense_Mutation_p.N157D|INVS_uc004bao.1_Missense_Mutation_p.N253D|INVS_uc004baq.1_Missense_Mutation_p.N157D|INVS_uc004bar.1_Missense_Mutation_p.N157D|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	253					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054911	103054911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054911A>G	uc004bap.1	+	14	2584	c.2372A>G	c.(2371-2373)CAG>CGG	p.Q791R	INVS_uc011lve.1_Missense_Mutation_p.Q695R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.Q695R|INVS_uc010mtb.1_Missense_Mutation_p.Q465R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	791					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054982	103054982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054982C>T	uc004bap.1	+	14	2655	c.2443C>T	c.(2443-2445)CGG>TGG	p.R815W	INVS_uc011lve.1_Missense_Mutation_p.R719W|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.R719W|INVS_uc010mtb.1_Missense_Mutation_p.R489W	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103055045	103055045	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103055045A>G	uc004bap.1	+	14	2718	c.2506A>G	c.(2506-2508)ACA>GCA	p.T836A	INVS_uc011lve.1_Missense_Mutation_p.T740A|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.T740A|INVS_uc010mtb.1_Missense_Mutation_p.T510A	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	836					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103109393	103109393	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103109393T>A	uc004bas.2	-	3	691	c.476A>T	c.(475-477)GAC>GTC	p.D159V	TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162V|TEX10_uc011lvh.1_Missense_Mutation_p.D94V|TEX10_uc004bat.2_Missense_Mutation_p.D159V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)														---	---	---	---
LPPR1	54886	broad.mit.edu	37	9	104048518	104048518	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104048518G>T	uc004bbb.2	+	4	784	c.385G>T	c.(385-387)GGG>TGG	p.G129W	LPPR1_uc011lvi.1_Missense_Mutation_p.G105W|LPPR1_uc004bbc.2_Missense_Mutation_p.G129W|LPPR1_uc010mtc.2_Missense_Mutation_p.G113W	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	129	Helical; (Potential).					integral to membrane	catalytic activity				0																		---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104312974	104312974	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104312974T>C	uc004bbn.2	+	10	1269	c.1179T>C	c.(1177-1179)AAT>AAC	p.N393N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	393					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385604	104385604	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385604T>C	uc004bbp.1	-	5	3211	c.2610A>G	c.(2608-2610)ATA>ATG	p.I870M	GRIN3A_uc004bbq.1_Missense_Mutation_p.I870M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	870	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385638	104385638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385638C>T	uc004bbp.1	-	5	3177	c.2576G>A	c.(2575-2577)TGC>TAC	p.C859Y	GRIN3A_uc004bbq.1_Missense_Mutation_p.C859Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	859	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767460	105767460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767460G>A	uc004bbs.2	+	5	617	c.547G>A	c.(547-549)GGA>AGA	p.G183R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	183	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106900323	106900323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:106900323A>G	uc004bbv.2	+	24	3582	c.3294A>G	c.(3292-3294)ATA>ATG	p.I1098M	SMC2_uc004bbw.2_Missense_Mutation_p.I1098M|SMC2_uc011lvl.1_Missense_Mutation_p.I1098M|SMC2_uc004bbx.2_Missense_Mutation_p.I1098M|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1098	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9																		---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266759	107266759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107266759G>A	uc011lvm.1	+	1	216	c.216G>A	c.(214-216)TGG>TGA	p.W72*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289076	107289076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289076C>T	uc011lvn.1	-	1	415	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289113	107289113	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289113G>C	uc011lvn.1	-	1	378	c.378C>G	c.(376-378)ATC>ATG	p.I126M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107361037	107361037	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107361037A>T	uc011lvp.1	-	1	658	c.658T>A	c.(658-660)TTA>ATA	p.L220I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107457074	107457074	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107457074C>A	uc011lvs.1	+	1	372	c.372C>A	c.(370-372)ATC>ATA	p.I124I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	124	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107535336	107535336	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107535336A>G	uc004bci.2	+	6	797	c.726A>G	c.(724-726)TCA>TCG	p.S242S	NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	242										pancreas(1)|skin(1)	2																		---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108382347	108382347	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108382347G>A	uc004bcr.2	+						FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Intron|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Intron	NM_001079802	NP_001073270			fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109687976	109687976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109687976G>A	uc004bcz.2	+	3	2072	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	ZNF462_uc010mto.2_Missense_Mutation_p.A443T|ZNF462_uc004bda.2_Missense_Mutation_p.A443T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	595					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109688970	109688970	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109688970G>T	uc004bcz.2	+	3	3066	c.2777G>T	c.(2776-2778)CGG>CTG	p.R926L	ZNF462_uc010mto.2_Missense_Mutation_p.R774L|ZNF462_uc004bda.2_Missense_Mutation_p.R774L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	926	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617647	111617647	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617647G>A	uc004bdi.2	-	1	629	c.564C>T	c.(562-564)TCC>TCT	p.S188S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617817	111617817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617817A>G	uc004bdi.2	-	1	459	c.394T>C	c.(394-396)TAC>CAC	p.Y132H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	132						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625473	111625473	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625473A>G	uc004bdj.1	+	1	871	c.871A>G	c.(871-873)AAA>GAA	p.K291E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	291						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625641	111625641	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625641G>A	uc004bdj.1	+	1	1039	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	347						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
C9orf6	54942	broad.mit.edu	37	9	111697919	111697919	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111697919T>C	uc004bdn.2	+	2	175	c.81T>C	c.(79-81)GAT>GAC	p.D27D	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_RNA	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	27					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)														---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111962507	111962507	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111962507A>G	uc004bdz.1	-							NM_019114	NP_061987			erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112029765	112029765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112029765T>C	uc004bdz.1	-	4	816	c.521A>G	c.(520-522)GAG>GGG	p.E174G	EPB41L4B_uc004bea.2_Missense_Mutation_p.E174G	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112225670	112225670	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112225670T>C	uc004bed.2	-	2	157	c.45A>G	c.(43-45)ATA>ATG	p.I15M	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.I15M|PTPN3_uc011lwh.1_Translation_Start_Site|PTPN3_uc004bee.3_Missense_Mutation_p.I15M	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	15					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898690	112898690	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112898690A>T	uc004bei.2	+	9	1754	c.1562A>T	c.(1561-1563)GAG>GTG	p.E521V	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E99V|AKAP2_uc011lwi.1_Missense_Mutation_p.E147V|AKAP2_uc004bem.2_Missense_Mutation_p.E147V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E107V|AKAP2_uc011lwj.1_Missense_Mutation_p.E58V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E58V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	58							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113169574	113169574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113169574C>T	uc010mtz.2	-	38	8643	c.8306G>A	c.(8305-8307)CGC>CAC	p.R2769H	SVEP1_uc010mty.2_Missense_Mutation_p.R695H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2769	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
LPAR1	1902	broad.mit.edu	37	9	113637717	113637717	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113637717T>A	uc004bfa.2	-	5	1334	c.1079A>T	c.(1078-1080)GAC>GTC	p.D360V	LPAR1_uc011lwm.1_Missense_Mutation_p.D361V|LPAR1_uc004bfb.2_Missense_Mutation_p.D360V|LPAR1_uc004bfc.2_Missense_Mutation_p.D360V|LPAR1_uc011lwn.1_Missense_Mutation_p.D342V|LPAR1_uc011lwo.1_Missense_Mutation_p.D361V|LPAR1_uc010mub.2_Missense_Mutation_p.D360V	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	360	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2																		---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114134086	114134086	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114134086A>T	uc004bfe.1	-	44	5086	c.5086T>A	c.(5086-5088)TAC>AAC	p.Y1696N		NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114305075	114305075	+	Silent	SNP	G	A	A	rs142830150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114305075G>A	uc004bff.2	+	6	2084	c.1860G>A	c.(1858-1860)ACG>ACA	p.T620T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	620	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1																		---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114337052	114337052	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114337052G>A	uc004bfh.2	-	8	825	c.722C>T	c.(721-723)GCC>GTC	p.A241V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.A241V|PTGR1_uc004bfi.3_Missense_Mutation_p.A241V|PTGR1_uc004bfj.3_Missense_Mutation_p.A118V|PTGR1_uc010mue.2_Missense_Mutation_p.A241V	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	241	NADP.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114454706	114454706	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114454706C>A	uc004bfr.2	-	25	3494	c.3359G>T	c.(3358-3360)AGG>ATG	p.R1120M	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.R1081M|C9orf84_uc010mug.2_Missense_Mutation_p.R1031M	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1120										ovary(2)	2																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114456540	114456540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114456540T>C	uc004bfr.2	-	23	3229	c.3094A>G	c.(3094-3096)AAA>GAA	p.K1032E	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K993E|C9orf84_uc010mug.2_Missense_Mutation_p.K943E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1032										ovary(2)	2																		---	---	---	---
HSDL2	84263	broad.mit.edu	37	9	115166290	115166290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115166290T>C	uc004bga.1	+	2	126	c.33T>C	c.(31-33)TGT>TGC	p.C11C	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Silent_p.C11C|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	11						peroxisome	oxidoreductase activity|sterol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115600867	115600867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115600867T>A	uc004bgj.3	+	6	1052	c.904T>A	c.(904-906)TCA>ACA	p.S302T	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	302					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115626531	115626531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115626531C>A	uc004bgj.3	+	8	1254	c.1106C>A	c.(1105-1107)CCG>CAG	p.P369Q	SNX30_uc004bgi.3_Missense_Mutation_p.P51Q	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	369					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115931875	115931875	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115931875T>C	uc004bgs.2	-	26	3232	c.3114A>G	c.(3112-3114)CTA>CTG	p.L1038L	FKBP15_uc004bgr.2_Silent_p.L475L|FKBP15_uc011lxc.1_Silent_p.L619L|FKBP15_uc011lxd.1_Silent_p.L970L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1038					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115936846	115936846	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115936846T>C	uc004bgs.2	-	22	2359	c.2241A>G	c.(2239-2241)AAA>AAG	p.K747K	FKBP15_uc004bgr.2_Silent_p.K184K|FKBP15_uc011lxc.1_Silent_p.K328K|FKBP15_uc011lxd.1_Silent_p.K679K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	747	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115950662	115950662	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115950662T>A	uc004bgs.2	-						FKBP15_uc010muu.1_Intron|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Intron|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Intron	NM_015258	NP_056073			FK506 binding protein 15, 133kDa						endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116049018	116049018	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116049018A>G	uc004bgx.2	+	9	895	c.845A>G	c.(844-846)CAT>CGT	p.H282R	PRPF4_uc004bgy.2_Missense_Mutation_p.H281R	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	282	WD 2.			NVGAIVFH -> KKEQLHSI (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ALAD	210	broad.mit.edu	37	9	116151752	116151752	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116151752G>T	uc011lxf.1	-	10	969	c.767C>A	c.(766-768)CCC>CAC	p.P256H	ALAD_uc011lxe.1_Missense_Mutation_p.P239H|ALAD_uc004bhl.3_Missense_Mutation_p.P285H	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	256					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)													---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116263906	116263906	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116263906G>A	uc004bhq.2	+						RGS3_uc004bhr.2_Intron|RGS3_uc004bhs.2_Intron|RGS3_uc004bht.2_Missense_Mutation_p.R17H|RGS3_uc010muy.2_Missense_Mutation_p.R17H	NM_144488	NP_652759			regulator of G-protein signalling 3 isoform 6						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116359109	116359109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116359109G>A	uc004bhq.2	+	26	3682	c.3473G>A	c.(3472-3474)GGC>GAC	p.G1158D	RGS3_uc004bhs.2_Missense_Mutation_p.G1048D|RGS3_uc004bht.2_Missense_Mutation_p.G877D|RGS3_uc010muy.2_Missense_Mutation_p.G551D|RGS3_uc004bhv.2_Missense_Mutation_p.G479D|RGS3_uc004bhw.2_Missense_Mutation_p.G128D|RGS3_uc011lxh.1_Missense_Mutation_p.G468D|RGS3_uc004bhx.2_Missense_Mutation_p.G479D|RGS3_uc004bhz.2_Missense_Mutation_p.G500D|RGS3_uc004bia.2_Missense_Mutation_p.G271D	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1158	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119414057	119414057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119414057C>T	uc004bjs.1	-	17	2923	c.2822G>A	c.(2821-2823)GGC>GAC	p.G941D	ASTN2_uc004bjr.1_Missense_Mutation_p.G937D|ASTN2_uc004bjt.1_Missense_Mutation_p.G890D|ASTN2_uc004bjp.1_Missense_Mutation_p.G34D|ASTN2_uc004bjq.1_5'UTR|ASTN2_uc011lxr.1_5'UTR|ASTN2_uc011lxs.1_5'UTR|ASTN2_uc011lxt.1_5'UTR|ASTN2_uc004bjv.1_5'UTR	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	941	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119460783	119460783	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119460783G>A	uc004bjx.2	+	2	920	c.762G>A	c.(760-762)CTG>CTA	p.L254L	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L254L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	254					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3														Bardet-Biedl_syndrome				---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119488179	119488179	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119488179G>T	uc004bjs.1	-	16	2778	c.2677C>A	c.(2677-2679)CTG>ATG	p.L893M	ASTN2_uc004bjr.1_Missense_Mutation_p.L889M|ASTN2_uc004bjt.1_Missense_Mutation_p.L842M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	893	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119582989	119582989	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119582989T>C	uc004bjs.1	-	12	2215	c.2114A>G	c.(2113-2115)GAT>GGT	p.D705G	ASTN2_uc004bjr.1_Missense_Mutation_p.D701G|ASTN2_uc004bjt.1_Missense_Mutation_p.D654G	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	705	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476261	120476261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120476261C>T	uc004bjz.2	+	3	2146	c.1855C>T	c.(1855-1857)CCT>TCT	p.P619S	TLR4_uc004bka.2_Missense_Mutation_p.P579S|TLR4_uc004bkb.2_Missense_Mutation_p.P419S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	619	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---
DBC1	1620	broad.mit.edu	37	9	121971132	121971132	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:121971132T>C	uc004bkc.2	-	7	1466	c.1010A>G	c.(1009-1011)GAC>GGC	p.D337G		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	337					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123210340	123210340	+	Missense_Mutation	SNP	C	T	T	rs149193447	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123210340C>T	uc004bkf.2	-	22	3039	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R3H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R238H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R953H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R218H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R723H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R720H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	953	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123253685	123253685	+	Missense_Mutation	SNP	T	C	C	rs140513883		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123253685T>C	uc004bkf.2	-	13	1563	c.1382A>G	c.(1381-1383)TAC>TGC	p.Y461C	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y461C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y461C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y260C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	461					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
C5	727	broad.mit.edu	37	9	123776296	123776296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123776296G>A	uc004bkv.2	-	17	2142	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	C5_uc010mvm.1_Silent_p.C704C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	704	Anaphylatoxin-like.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
C5	727	broad.mit.edu	37	9	123782388	123782388	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123782388A>T	uc004bkv.2	-	12	1402	c.1372T>A	c.(1372-1374)TCA>ACA	p.S458T	C5_uc010mvm.1_Missense_Mutation_p.S458T|C5_uc010mvn.1_Missense_Mutation_p.S458T	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	458					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
CEP110	11064	broad.mit.edu	37	9	123920323	123920323	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123920323T>A	uc004bkx.1	+	28	4731	c.4700T>A	c.(4699-4701)GTC>GAC	p.V1567D	CEP110_uc010mvo.1_Missense_Mutation_p.V236D|CEP110_uc004blb.1_Missense_Mutation_p.V236D|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1567	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0																		---	---	---	---
GSN	2934	broad.mit.edu	37	9	124081025	124081025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124081025G>A	uc004blf.1	+	9	1272	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	GSN_uc004bld.1_Missense_Mutation_p.G353D|GSN_uc010mvq.1_Missense_Mutation_p.G364D|GSN_uc010mvr.1_Missense_Mutation_p.G364D|GSN_uc010mvu.1_Missense_Mutation_p.G353D|GSN_uc010mvt.1_Missense_Mutation_p.G353D|GSN_uc010mvs.1_Missense_Mutation_p.G353D|GSN_uc004ble.1_Missense_Mutation_p.G353D|GSN_uc010mvv.1_Missense_Mutation_p.G353D|GSN_uc011lyh.1_Missense_Mutation_p.G370D|GSN_uc011lyi.1_Missense_Mutation_p.G353D|GSN_uc011lyj.1_Missense_Mutation_p.G377D|GSN_uc004blg.1_Missense_Mutation_p.G135D	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	404					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3																		---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124535066	124535066	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124535066C>T	uc004bln.2	+	12	2244	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DAB2IP_uc004blo.2_Silent_p.D629D|DAB2IP_uc004blp.2_Silent_p.D158D	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	753					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TTLL11	158135	broad.mit.edu	37	9	124751392	124751392	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124751392T>G	uc004blt.1	-	4					TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228			tubulin tyrosine ligase-like family, member 11						protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0																		---	---	---	---
NDUFA8	4702	broad.mit.edu	37	9	124906577	124906577	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124906577G>A	uc004blv.2	-	4	604	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	154					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)													---	---	---	---
RBM18	92400	broad.mit.edu	37	9	125009820	125009820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125009820G>A	uc004bma.2	-	4	470	c.304C>T	c.(304-306)CGA>TGA	p.R102*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	102	RRM.						nucleotide binding|RNA binding				0																		---	---	---	---
OR1L8	138881	broad.mit.edu	37	9	125330036	125330036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125330036T>C	uc004bmp.1	-	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551853	125551853	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551853G>A	uc011lzd.1	+	1	642	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551886	125551886	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551886C>T	uc011lzd.1	+	1	675	c.675C>T	c.(673-675)ATC>ATT	p.I225I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125562695	125562695	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125562695C>G	uc011lze.1	+	1	294	c.294C>G	c.(292-294)TGC>TGG	p.C98W		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125617543	125617543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125617543G>A	uc010mwc.1	-	15	2976	c.2735C>T	c.(2734-2736)TCC>TTC	p.S912F	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S912F|RC3H2_uc004bne.3_Missense_Mutation_p.S912F	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	912						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4																		---	---	---	---
ZBTB6	10773	broad.mit.edu	37	9	125673310	125673310	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125673310G>T	uc004bnh.2	-	2	1131	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	348	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125759568	125759568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125759568T>C	uc011lzh.1	+	9	1266	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	378					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125836696	125836696	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125836696C>T	uc011lzh.1	+	17	2376	c.2242C>T	c.(2242-2244)CTT>TTT	p.L748F	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.L87F	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	748	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144873	126144873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126144873C>T	uc004bnz.1	-	22	2101	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	DENND1A_uc011lzl.1_Missense_Mutation_p.R441H|DENND1A_uc004bny.1_Missense_Mutation_p.R405H|DENND1A_uc011lzm.1_Missense_Mutation_p.R634H|DENND1A_uc010mwh.1_Missense_Mutation_p.R44H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126214597	126214597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126214597T>C	uc004bnz.1	-	17	1490	c.1257A>G	c.(1255-1257)GTA>GTG	p.V419V	DENND1A_uc011lzl.1_Silent_p.V194V|DENND1A_uc004bny.1_Silent_p.V158V|DENND1A_uc011lzm.1_Silent_p.V387V|DENND1A_uc004boa.1_Silent_p.V419V|DENND1A_uc004bob.1_Silent_p.V389V|DENND1A_uc004boc.2_Silent_p.V387V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	419						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
NEK6	10783	broad.mit.edu	37	9	127110081	127110081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127110081G>A	uc004bog.2	+	9	960	c.811G>A	c.(811-813)GGG>AGG	p.G271R	NEK6_uc004bof.2_Missense_Mutation_p.G289R|NEK6_uc004boh.2_Missense_Mutation_p.G305R|NEK6_uc010mwj.2_Missense_Mutation_p.G224R|NEK6_uc010mwk.2_Missense_Mutation_p.G271R|NEK6_uc004boi.2_Missense_Mutation_p.G271R	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	271	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3																		---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127298343	127298343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127298343T>C	uc004bor.1	-	7	1071	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	NR6A1_uc004boq.1_Missense_Mutation_p.Q293R|NR6A1_uc010mwq.1_Missense_Mutation_p.Q294R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	298					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127996243	127996243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127996243T>G	uc004bpi.2	+	9	1276	c.1103T>G	c.(1102-1104)GTG>GGG	p.V368G	RABEPK_uc004bpj.2_Missense_Mutation_p.V317G|RABEPK_uc004bpk.2_Missense_Mutation_p.V368G|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.V368G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	368					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128067331	128067331	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128067331T>C	uc010mwx.2	+						GAPVD1_uc004bpo.2_Intron|GAPVD1_uc011lzs.1_Intron|GAPVD1_uc004bpp.2_Intron|GAPVD1_uc004bpq.2_Intron|GAPVD1_uc004bpr.2_Intron|GAPVD1_uc004bps.2_Intron|GAPVD1_uc010mwy.1_Intron	NM_015635	NP_056450			GTPase activating protein and VPS9 domains 1						endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128099736	128099736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128099736G>A	uc010mwx.2	+	17	3069	c.2743G>A	c.(2743-2745)GAC>AAC	p.D915N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D915N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D942N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D915N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D894N|GAPVD1_uc004bps.2_Missense_Mutation_p.D915N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D748N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	915					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128111746	128111746	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128111746C>A	uc010mwx.2	+	21	3627	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	GAPVD1_uc004bpp.2_Missense_Mutation_p.P1110T|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1083T|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1062T|GAPVD1_uc004bps.2_Missense_Mutation_p.P1056T|GAPVD1_uc004bpt.2_Missense_Mutation_p.P116T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1101					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128347881	128347881	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128347881C>T	uc004bpv.2	-	5	957	c.624G>A	c.(622-624)GGG>GGA	p.G208G	MAPKAP1_uc011lzt.1_Silent_p.G11G|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.G11G|MAPKAP1_uc011lzv.1_Silent_p.G11G|MAPKAP1_uc004bpw.2_Silent_p.G16G|MAPKAP1_uc004bpx.2_Silent_p.G16G|MAPKAP1_uc004bpy.2_Silent_p.G208G|MAPKAP1_uc004bpz.2_Silent_p.G208G|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.G11G|MAPKAP1_uc004bqa.2_Silent_p.G208G|MAPKAP1_uc010mxc.1_Silent_p.G80G	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	208					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4																		---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129458638C>A	uc004bqj.2	+	8	1098	c.1048C>A	c.(1048-1050)CTC>ATC	p.L350I	LMX1B_uc004bqi.2_Missense_Mutation_p.L343I|LMX1B_uc011maa.1_Missense_Mutation_p.L354I	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														Nail-Patella_Syndrome				---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129740006	129740006	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129740006T>C	uc004bqo.1	+	4	465	c.198T>C	c.(196-198)TTT>TTC	p.F66F	RALGPS1_uc011mab.1_Silent_p.F66F|RALGPS1_uc011mac.1_Silent_p.F66F|RALGPS1_uc004bqq.3_Silent_p.F66F	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	66	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130073930	130073930	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130073930C>T	uc011mae.1	+	3	636	c.235C>T	c.(235-237)CCT>TCT	p.P79S	GARNL3_uc011mad.1_Missense_Mutation_p.P57S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	79					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130083001	130083001	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130083001A>G	uc011mae.1	+	6	912	c.511A>G	c.(511-513)AAT>GAT	p.N171D	GARNL3_uc011mad.1_Missense_Mutation_p.N149D	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	171					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
RPL12	6136	broad.mit.edu	37	9	130210270	130210270	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130210270T>C	uc004bqy.1	-	6	468	c.380_splice	c.e6-1	p.G127_splice	RPL12_uc004bqx.1_Splice_Site|RPL12_uc004bqz.1_Splice_Site_p.G94_splice	NM_000976	NP_000967			ribosomal protein L12						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130219605	130219605	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130219605T>A	uc004brb.1	+	6	530	c.185T>A	c.(184-186)GTC>GAC	p.V62D	LRSAM1_uc010mxk.1_Missense_Mutation_p.V62D|LRSAM1_uc004brc.1_Missense_Mutation_p.V62D|LRSAM1_uc004brd.1_Missense_Mutation_p.V62D	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	62	LRR 2.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
PTRH1	138428	broad.mit.edu	37	9	130476504	130476504	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130476504C>A	uc004bro.2	-	5	538	c.520G>T	c.(520-522)GCC>TCC	p.A174S	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Missense_Mutation_p.R171S|PTRH1_uc011mah.1_Missense_Mutation_p.A187S|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	174					translation		aminoacyl-tRNA hydrolase activity|protein binding				0																		---	---	---	---
CDK9	1025	broad.mit.edu	37	9	130550553	130550553	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130550553C>A	uc004bse.2	+	5	616	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	165	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1																		---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131107478	131107478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131107478G>A	uc004but.2	+	3	490	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	69					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0																		---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131262534	131262534	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131262534A>T	uc011mbd.1	+	21	2801	c.2490A>T	c.(2488-2490)TGA>TGT	p.*830C	ODF2_uc004bvb.2_Nonstop_Mutation_p.*806C|ODF2_uc011mbe.1_Nonstop_Mutation_p.*825C|ODF2_uc004bvc.2_Nonstop_Mutation_p.*806C|ODF2_uc004bvd.3_Nonstop_Mutation_p.*830C|ODF2_uc004bvh.2_Nonstop_Mutation_p.*236C	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	830					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131337514	131337514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131337514C>A	uc004bvl.3	+	5	654	c.541C>A	c.(541-543)CTG>ATG	p.L181M	SPTAN1_uc011mbg.1_Missense_Mutation_p.L181M|SPTAN1_uc011mbh.1_Missense_Mutation_p.L193M|SPTAN1_uc004bvm.3_Missense_Mutation_p.L181M|SPTAN1_uc004bvn.3_Missense_Mutation_p.L181M	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	181	Spectrin 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131387430	131387430	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131387430C>A	uc004bvl.3	+	46	6139	c.6026C>A	c.(6025-6027)TCT>TAT	p.S2009Y	SPTAN1_uc004bvm.3_Missense_Mutation_p.S2014Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1989Y|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2009	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131399212	131399212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131399212G>A	uc004bvq.1	-	3	654	c.530C>T	c.(529-531)GCC>GTC	p.A177V	WDR34_uc004bvs.1_Missense_Mutation_p.A168V|WDR34_uc004bvr.1_Missense_Mutation_p.A177V|WDR34_uc011mbi.1_Missense_Mutation_p.A60V	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	177						cytoplasm				central_nervous_system(2)|skin(1)	3																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131559484	131559484	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131559484G>T	uc010myj.2	+	7	657	c.534G>T	c.(532-534)GGG>GGT	p.G178G	TBC1D13_uc010myk.2_Silent_p.G178G|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	178	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0																		---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131591016	131591016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131591016C>T	uc004bwd.2	-	3	232	c.206G>A	c.(205-207)CGC>CAC	p.R69H	C9orf114_uc004bwe.2_Missense_Mutation_p.R69H|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	69											0																		---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670363	131670363	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131670363C>T	uc004bwl.3	+	3	1174	c.920C>T	c.(919-921)ACC>ATC	p.T307I	LRRC8A_uc010myp.2_Missense_Mutation_p.T307I|LRRC8A_uc010myq.2_Missense_Mutation_p.T307I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	307					pre-B cell differentiation	integral to membrane					0																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131741566	131741566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131741566T>C	uc004bws.1	+	13	1251	c.1229T>C	c.(1228-1230)GTA>GCA	p.V410A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131755596	131755596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131755596T>C	uc004bws.1	+	26	2783	c.2761T>C	c.(2761-2763)TTC>CTC	p.F921L	NUP188_uc004bwu.2_Missense_Mutation_p.F264L	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	921					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131862874	131862874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131862874G>A	uc004bxh.2	-	7	1182	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	CRAT_uc004bxg.2_Silent_p.Y279Y|CRAT_uc004bxk.3_Silent_p.Y279Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	300					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)													---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131890312	131890312	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131890312C>G	uc004bxm.1	+	4	553	c.286C>G	c.(286-288)CCA>GCA	p.P96A	PPP2R4_uc004bxl.1_Intron|PPP2R4_uc011mbo.1_Missense_Mutation_p.P96A|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	96					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131897123	131897123	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131897123G>T	uc004bxm.1	+	7	882	c.615G>T	c.(613-615)GGG>GGT	p.G205G	PPP2R4_uc004bxl.1_Silent_p.G170G|PPP2R4_uc011mbo.1_Silent_p.G205G|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.G170G|PPP2R4_uc004bxo.1_Silent_p.G128G|PPP2R4_uc011mbp.1_Silent_p.G141G|PPP2R4_uc011mbq.1_Silent_p.G128G|PPP2R4_uc010mys.1_Silent_p.G135G	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	205					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
C9orf106	414318	broad.mit.edu	37	9	132084570	132084570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132084570G>A	uc004bxs.2	+	2	531	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	hypothetical protein LOC414318	160											0		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)																---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132400113	132400113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132400113A>G	uc004byf.1	-	6	1388	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	ASB6_uc004bye.1_Missense_Mutation_p.Y333H|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.Y329H|ASB6_uc010myx.1_Missense_Mutation_p.Y379H	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	408	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)																---	---	---	---
PRRX2	51450	broad.mit.edu	37	9	132482979	132482979	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132482979C>T	uc004byh.2	+	3	779	c.552C>T	c.(550-552)ATC>ATT	p.I184I		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	184						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)																---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132569491	132569491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132569491G>A	uc004byk.1	+	3	550	c.490G>A	c.(490-492)GGT>AGT	p.G164S		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	164					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)																---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133511486	133511486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133511486G>A	uc004bzr.1	+	18	1791	c.1683G>A	c.(1681-1683)ACG>ACA	p.T561T	FUBP3_uc004bzs.1_Silent_p.T450T	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)														---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901837	133901837	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133901837G>A	uc004caa.1	+	2	637	c.539G>A	c.(538-540)CGC>CAC	p.R180H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	180	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)														---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134305536	134305536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134305536C>T	uc004can.3	+	1	60	c.5C>T	c.(4-6)TCC>TTC	p.S2F	BAT2L1_uc004cam.1_Missense_Mutation_p.S2F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	2							protein binding				0																		---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134351905	134351905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134351905G>A	uc004can.3	+	15	4444	c.4389G>A	c.(4387-4389)ACG>ACA	p.T1463T	BAT2L1_uc010mzj.1_Silent_p.T1046T|BAT2L1_uc004cao.3_Silent_p.T821T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1463							protein binding				0																		---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134465325	134465325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134465325G>A	uc004cbc.2	-	16	2387	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R771C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	753	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---
MED27	9442	broad.mit.edu	37	9	134814871	134814871	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134814871A>G	uc004cbe.1	-						MED27_uc004cbf.1_Intron|MED27_uc011mco.1_Intron|MED27_uc004cbg.3_Intron	NM_004269	NP_004260			mediator complex subunit 27						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)														---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135116397	135116397	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135116397C>T	uc004cbh.2	+	7	2099	c.1323C>T	c.(1321-1323)TGC>TGT	p.C441C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	441	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
SETX	23064	broad.mit.edu	37	9	135204906	135204906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135204906A>G	uc004cbk.2	-	10	2262	c.2079T>C	c.(2077-2079)AGT>AGC	p.S693S	SETX_uc004cbj.2_Silent_p.S312S|SETX_uc010mzt.2_Silent_p.S312S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	693					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135462883	135462883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135462883G>A	uc004cbp.1	+	2	826	c.634G>A	c.(634-636)GCC>ACC	p.A212T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)														---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554007	135554007	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135554007G>T	uc010mzv.2	+	2	1259	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	334					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)														---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135772974	135772974	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135772974G>T	uc004cca.2	-	21	2883	c.2649C>A	c.(2647-2649)GCC>GCA	p.A883A	TSC1_uc004ccb.3_Silent_p.A882A|TSC1_uc011mcq.1_Silent_p.A832A|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	883	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135786003	135786003	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135786003G>A	uc004cca.2	-	12	1452	c.1218C>T	c.(1216-1218)TAC>TAT	p.Y406Y	TSC1_uc004ccb.3_Silent_p.Y405Y|TSC1_uc011mcq.1_Silent_p.Y355Y|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.Y285Y|TSC1_uc004ccc.1_Silent_p.Y406Y	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	406					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135865239	135865239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135865239C>T	uc004ccg.2	+	6	910	c.759C>T	c.(757-759)TGC>TGT	p.C253C	GFI1B_uc010mzy.2_Silent_p.C207C	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	253	Mediates interaction with GATA1.|C2H2-type 4.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)														---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135932181	135932181	+	Missense_Mutation	SNP	G	A	A	rs144801827	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135932181G>A	uc004cci.3	+	10	1616	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	GTF3C5_uc004ccj.3_Missense_Mutation_p.G434R	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	427						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)														---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941940	135941940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135941940C>T	uc010naa.1	+	5	587	c.571C>T	c.(571-573)CAC>TAC	p.H191Y		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	188					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)														---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136198743	136198743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136198743T>C	uc004cdb.3	-	5	1126	c.1048A>G	c.(1048-1050)ATC>GTC	p.I350V		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	350						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136402566	136402566	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136402566G>A	uc011mdl.1	+	3	687	c.130G>A	c.(130-132)GAC>AAC	p.D44N	ADAMTSL2_uc004cei.2_Missense_Mutation_p.D44N	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	44					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136412226	136412226	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136412226T>C	uc011mdl.1	+	9	1387	c.830T>C	c.(829-831)TTC>TCC	p.F277S	ADAMTSL2_uc004cei.2_Missense_Mutation_p.F277S	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	277					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136529132	136529132	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136529132G>A	uc004cep.3	-	21	2770	c.2636C>T	c.(2635-2637)TCG>TTG	p.S879L	SARDH_uc004ceo.2_Missense_Mutation_p.S879L|SARDH_uc011mdn.1_Missense_Mutation_p.S879L|SARDH_uc011mdo.1_Missense_Mutation_p.S711L|SARDH_uc004cen.2_Missense_Mutation_p.S329L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	879					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136555518	136555518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136555518T>C	uc004cep.3	-	16	2187	c.2053A>G	c.(2053-2055)ATC>GTC	p.I685V	SARDH_uc004ceo.2_Missense_Mutation_p.I685V|SARDH_uc011mdn.1_Missense_Mutation_p.I685V|SARDH_uc011mdo.1_Missense_Mutation_p.I517V|SARDH_uc004cen.2_Missense_Mutation_p.I113V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	685					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136650998	136650998	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136650998C>T	uc004ces.2	-	17	1478	c.1432G>A	c.(1432-1434)GGC>AGC	p.G478S	VAV2_uc004cer.2_Missense_Mutation_p.G468S|VAV2_uc004cet.1_Missense_Mutation_p.G17S	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	478	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136656961	136656961	+	Missense_Mutation	SNP	G	A	A	rs142018797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136656961G>A	uc004ces.2	-	13	1178	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	VAV2_uc004cer.2_Missense_Mutation_p.R373W|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662845	136662845	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136662845C>T	uc004ces.2	-	10	969	c.923G>A	c.(922-924)AGG>AAG	p.R308K	VAV2_uc004cer.2_Missense_Mutation_p.R303K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	308	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136901428	136901428	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136901428G>A	uc004cew.2	-	10	1850	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	554	Lys-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136918499	136918499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136918499C>T	uc004cew.2	-	2	289	c.101G>A	c.(100-102)CGC>CAC	p.R34H	BRD3_uc004cex.2_Missense_Mutation_p.R34H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	34						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137591897	137591897	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137658311	137658311	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137658311T>C	uc004cfe.2	+	22	2482	c.2100T>C	c.(2098-2100)GGT>GGC	p.G700G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	700	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137702161	137702161	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137702161A>G	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
KIAA0649	9858	broad.mit.edu	37	9	138377887	138377887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138377887C>T	uc004cfr.1	+	4	2080	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	511						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)														---	---	---	---
LCN1	3933	broad.mit.edu	37	9	138413364	138413364	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138413364C>T	uc004cfz.1	+	1	79	c.21C>T	c.(19-21)GCC>GCT	p.A7A	LCN1_uc004cga.1_Silent_p.A7A	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	7					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)														---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138588662	138588662	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138588662C>T	uc004cgl.2	-						SOHLH1_uc010nbe.2_Intron	NM_001012415	NP_001012415			spermatogenesis and oogenesis specific basic						cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)														---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138594154	138594154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138594154C>T	uc011mdq.1	+	1	124	c.50C>T	c.(49-51)GCG>GTG	p.A17V	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.A17V|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	17						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713275	138713275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713275G>A	uc004cgr.3	-	11	3232	c.3232C>T	c.(3232-3234)CCA>TCA	p.P1078S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P968S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P800S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1078						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713714	138713714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713714C>T	uc004cgr.3	-	11	2793	c.2793G>A	c.(2791-2793)AGG>AGA	p.R931R	CAMSAP1_uc004cgq.3_Silent_p.R821R|CAMSAP1_uc010nbg.2_Silent_p.R653R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	931						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139306576	139306576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139306576A>G	uc004chl.2	+	2	204	c.199A>G	c.(199-201)ACC>GCC	p.T67A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.T67A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	67					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)														---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139326422	139326422	+	Missense_Mutation	SNP	C	T	T	rs112089228		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139326422C>T	uc004cho.2	-	7	1788	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	INPP5E_uc010nbm.2_Missense_Mutation_p.R467H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	468						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)														---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401094	139401094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139401094A>G	uc004chz.2	-						NOTCH1_uc004cia.1_Intron	NM_017617	NP_060087			notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413179	139413179	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139413179G>A	uc004chz.2	-	6	963	c.963C>T	c.(961-963)TGC>TGT	p.C321C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	321	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
LCN10	414332	broad.mit.edu	37	9	139635324	139635324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139635324G>A	uc010nbq.2	-	3	459	c.400C>T	c.(400-402)CGT>TGT	p.R134C	LCN10_uc004civ.2_Missense_Mutation_p.R147C|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	134					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)														---	---	---	---
EDF1	8721	broad.mit.edu	37	9	139757745	139757745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139757745C>T	uc004cjt.1	-	3	314	c.286G>A	c.(286-288)GCC>ACC	p.A96T	EDF1_uc004cju.1_Missense_Mutation_p.A96T	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	96	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|H-T-H motif (Potential).				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847450	139847450	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139847450G>A	uc004ckb.2	+	2	233	c.221G>A	c.(220-222)GGC>GAC	p.G74D	LCN12_uc004ckc.2_Missense_Mutation_p.G74D	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	lipocalcin 12 precursor	74					lipid metabolic process	extracellular region	binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)														---	---	---	---
FUT7	2529	broad.mit.edu	37	9	139925299	139925299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139925299A>G	uc004ckq.2	-	2	1741	c.892T>C	c.(892-894)TTC>CTC	p.F298L	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	298	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)														---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140055611	140055611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140055611T>C	uc004clk.2	+	9	1631	c.1301T>C	c.(1300-1302)GTG>GCG	p.V434A	GRIN1_uc004cli.1_Missense_Mutation_p.V109A|GRIN1_uc004clj.1_Missense_Mutation_p.V431A|GRIN1_uc004cll.2_Missense_Mutation_p.V434A|GRIN1_uc004clm.2_Missense_Mutation_p.V434A|GRIN1_uc004cln.2_Missense_Mutation_p.V452A|GRIN1_uc004clo.2_Missense_Mutation_p.V452A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	434	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)													---	---	---	---
ANAPC2	29882	broad.mit.edu	37	9	140082263	140082263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140082263C>T	uc004clr.1	-	2	483	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.R137H|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140127157	140127157	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140127157T>C	uc004cmf.1	+	4	490	c.304_splice	c.e4+2	p.S102_splice	SLC34A3_uc004cmc.1_Splice_Site|SLC34A3_uc004cmd.1_Splice_Site_p.S102_splice|SLC34A3_uc011met.1_Splice_Site_p.S102_splice	NM_080877	NP_543153			solute carrier family 34 (sodium phosphate),						cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)														---	---	---	---
NELF	26012	broad.mit.edu	37	9	140347525	140347525	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140347525C>T	uc004cna.2	-	9	1262	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.V141M|NELF_uc010nci.2_Missense_Mutation_p.V88M|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.V321M|NELF_uc004cmz.2_Missense_Mutation_p.V342M|NELF_uc004cnc.2_Missense_Mutation_p.V319M|NELF_uc004cnb.2_Missense_Mutation_p.V314M	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	344						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140476996C>T	uc004cno.1	-	6	905	c.683G>A	c.(682-684)TGA>TAA	p.*228*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	228						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140477035	140477035	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140477035C>T	uc004cno.1	-	6	866	c.644G>A	c.(643-645)AGG>AAG	p.R215K		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	215						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140507931	140507931	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140507931G>A	uc004cns.2	+	3	323	c.249G>A	c.(247-249)GAG>GAA	p.E83E	ARRDC1_uc004cnt.2_5'UTR|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.E46E|ARRDC1_uc004cnw.2_5'UTR|ARRDC1_uc004cnp.1_Silent_p.E83E|ARRDC1_uc004cnq.1_Silent_p.E83E|ARRDC1_uc011mfb.1_5'UTR|ARRDC1_uc004cnx.1_5'UTR|ARRDC1_uc004cny.2_5'Flank	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	83											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509383	140509383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140509383G>A	uc004cns.2	+	7	1242	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	ARRDC1_uc004cnt.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.G370R|ARRDC1_uc004cnw.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnp.1_Missense_Mutation_p.G390R|ARRDC1_uc004cnq.1_Missense_Mutation_p.G372R|ARRDC1_uc011mfb.1_Missense_Mutation_p.G265R|ARRDC1_uc004cnx.1_Missense_Mutation_p.G265R|ARRDC1_uc004cny.2_Intron	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	390	Pro-rich.										0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140671153	140671153	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140671153C>T	uc011mfc.1	+	12	1912	c.1875C>T	c.(1873-1875)AGC>AGT	p.S625S	EHMT1_uc004coa.2_Silent_p.S625S|EHMT1_uc004cob.1_Silent_p.S594S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	625					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)														---	---	---	---
MIR602	693187	broad.mit.edu	37	9	140732894	140732894	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140732894C>T	hsa-mir-602|MI0003615	+			c.24C>T																				0																		---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140948380	140948380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140948380C>T	uc004cog.2	+	26	4035	c.3890C>T	c.(3889-3891)GCC>GTC	p.A1297V	CACNA1B_uc011mfd.1_Missense_Mutation_p.A827V|CACNA1B_uc004coi.2_Missense_Mutation_p.A511V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1297	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140995577	140995577	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140995577T>C	uc004cog.2	+						CACNA1B_uc004coi.2_Intron|CACNA1B_uc004cok.1_Intron|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709			calcium channel, voltage-dependent, N type,						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	94047	94047	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94047A>G	uc001ifi.2	-	4	285	c.285T>C	c.(283-285)TGT>TGC	p.C95C	TUBB8_uc009xhe.2_Silent_p.C58C|TUBB8_uc010pzs.1_Silent_p.C23C	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	95					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)														---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	294540	294540	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:294540C>A	uc010pzt.1	+	13	1920	c.1492C>A	c.(1492-1494)CTG>ATG	p.L498M	ZMYND11_uc001ifk.2_Missense_Mutation_p.L497M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L498M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L443M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L413M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L444M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L498M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L444M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L481M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L372M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L350M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	458	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	410959	410959	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:410959A>T	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron|DIP2C_uc010pzz.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	445117	445117	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:445117C>A	uc001ifp.2	-	10	1282	c.1192G>T	c.(1192-1194)GCG>TCG	p.A398S	DIP2C_uc009xhj.1_Missense_Mutation_p.A94S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	398						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	468784	468784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:468784A>G	uc001ifp.2	-	5	674	c.584T>C	c.(583-585)GTC>GCC	p.V195A	DIP2C_uc009xhk.1_Missense_Mutation_p.S197P	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	195						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1779250	1779250	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1779250C>T	uc009xhq.2	-	1	469	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	32					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)														---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3151612	3151612	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)														---	---	---	---
KLF6	1316	broad.mit.edu	37	10	3822350	3822350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3822350G>A	uc001iha.2	-	3	1015	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.H208Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	250	C2H2-type 2.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)														---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435860	5435860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5435860C>T	uc001ihy.2	-	4	1001	c.961G>A	c.(961-963)GCC>ACC	p.A321T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A281T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1																		---	---	---	---
CALML5	51806	broad.mit.edu	37	10	5541029	5541029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5541029C>T	uc001iic.2	-	1	505	c.373G>A	c.(373-375)GAG>AAG	p.E125K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	125	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding				0																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5773004	5773004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5773004C>T	uc001iij.2	+	11	1667	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	348										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5798695	5798695	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5798695G>A	uc001iij.2	+	16	7351	c.6726G>A	c.(6724-6726)TTG>TTA	p.L2242L	C10orf18_uc001iik.2_Silent_p.L1086L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2242										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5828020	5828020	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5828020A>T	uc001iil.3	-						GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Intron	NM_001494	NP_001485			GDP dissociation inhibitor 2 isoform 1						protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409612	7409612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7409612G>A	uc009xio.1	-	4	526	c.435C>T	c.(433-435)GAC>GAT	p.D145D	SFMBT2_uc001ijn.1_Silent_p.D145D|SFMBT2_uc010qay.1_Silent_p.D145D|SFMBT2_uc001ijo.1_Silent_p.D145D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	145					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7608186	7608186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7608186A>G	uc001ijq.2	-	13	2413	c.2334T>C	c.(2332-2334)AGT>AGC	p.S778S	ITIH5_uc001ijp.2_Silent_p.S564S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	778					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618800	7618800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7618800C>T	uc001ijq.2	-	10	1673	c.1594G>A	c.(1594-1596)GCC>ACC	p.A532T	ITIH5_uc001ijp.2_Missense_Mutation_p.A318T|ITIH5_uc001ijr.1_Missense_Mutation_p.A532T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	532					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A532P(1)		ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7657973	7657973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7657973G>A	uc001ijq.2	-	7	990	c.911C>T	c.(910-912)GCT>GTT	p.A304V	ITIH5_uc001ijp.2_Missense_Mutation_p.A90V|ITIH5_uc001ijr.1_Missense_Mutation_p.A304V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	304	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7679259	7679259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7679259G>A	uc001ijq.2	-	5	663	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ITIH5_uc001ijr.1_Missense_Mutation_p.A195V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
KIN	22944	broad.mit.edu	37	10	7820934	7820934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7820934A>G	uc001ijt.2	-	5	473	c.425T>C	c.(424-426)ATA>ACA	p.I142T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.I142T|KIN_uc010qba.1_Missense_Mutation_p.I36T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	142					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100631	8100631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8100631G>A	uc001ika.2	+	3	1162	c.605G>A	c.(604-606)CGT>CAT	p.R202H	GATA3_uc001ijz.2_Missense_Mutation_p.R202H	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	202					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22								F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13224949	13224949	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13224949T>G	uc001ima.2	+	8	1051	c.950T>G	c.(949-951)ATA>AGA	p.I317R	MCM10_uc001imb.2_Missense_Mutation_p.I316R|MCM10_uc001imc.2_Missense_Mutation_p.I316R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	317					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13481460	13481460	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13481460C>T	uc001imm.2	-	9	1416	c.1119G>A	c.(1117-1119)GGG>GGA	p.G373G	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	424							protein binding			ovary(1)|breast(1)	2																		---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13804685	13804685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13804685A>T	uc001ims.2	-						FRMD4A_uc009xjf.1_Intron|FRMD4A_uc001imt.1_Intron|FRMD4A_uc001imu.1_Intron	NM_018027	NP_060497			FERM domain containing 4A							cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3																		---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14572484	14572484	+	5'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14572484T>A	uc001imx.1	-	2					FAM107B_uc001ina.1_Missense_Mutation_p.D167V|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_5'UTR|FAM107B_uc001imy.1_5'UTR|FAM107B_uc001imz.1_5'UTR	NM_031453	NP_113641			hypothetical protein LOC83641											breast(4)	4																		---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15210574	15210574	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15210574C>A	uc001inz.1	-	1	122	c.38G>T	c.(37-39)AGC>ATC	p.S13I	NMT2_uc001ioa.1_5'UTR|NMT2_uc009xjo.1_Missense_Mutation_p.S13I	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	13					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15256309	15256309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15256309G>A	uc001iob.2	-	8	1285	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	426	Cytoplasmic (Potential).					integral to membrane		p.S426R(1)		ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15883459	15883459	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15883459A>G	uc001iod.1	-	4	596	c.375T>C	c.(373-375)AGT>AGC	p.S125S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S125S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	125					apoptosis	nucleus	calcium ion binding			ovary(1)	1																		---	---	---	---
PTER	9317	broad.mit.edu	37	10	16528542	16528542	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16528542A>T	uc001iog.1	+	4	831	c.624A>T	c.(622-624)GCA>GCT	p.A208A	PTER_uc001ioh.1_Silent_p.A208A|PTER_uc001ioi.1_Silent_p.A208A|PTER_uc009xjp.1_Silent_p.A208A	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	208					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2																		---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16882941	16882941	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16882941T>C	uc001ioo.2	-	61	9821	c.9769A>G	c.(9769-9771)ATC>GTC	p.I3257V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3257	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
TRDMT1	1787	broad.mit.edu	37	10	17195517	17195517	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17195517G>A	uc001iop.2	-	10	1112	c.1064C>T	c.(1063-1065)CCT>CTT	p.P355L	TRDMT1_uc001ioq.2_Missense_Mutation_p.P331L|TRDMT1_uc001ior.2_Missense_Mutation_p.P309L|TRDMT1_uc001ios.2_Missense_Mutation_p.P284L|TRDMT1_uc009xjt.2_Missense_Mutation_p.P274L|TRDMT1_uc010qcc.1_Missense_Mutation_p.P284L|TRDMT1_uc010qcd.1_Missense_Mutation_p.P232L	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	355					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1																		---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17645651	17645651	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17645651A>T	uc001ipg.2	-						PTPLA_uc001iph.1_3'UTR	NM_014241	NP_055056			protein tyrosine phosphatase-like, member A						fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17865224	17865224	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17865224T>G	uc001ipk.2	+	2	316	c.213T>G	c.(211-213)TTT>TTG	p.F71L		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	71	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17891615	17891615	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17891615T>A	uc001ipk.2	+	7	1199	c.1096T>A	c.(1096-1098)TGG>AGG	p.W366R		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	366	Extracellular (Potential).				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18789845	18789845	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18789845A>G	uc001ipr.2	+	5	621	c.561A>G	c.(559-561)GAA>GAG	p.E187E	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.E187E|CACNB2_uc001ipt.2_Silent_p.E187E|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.E159E|CACNB2_uc001ipv.2_Silent_p.E159E|CACNB2_uc009xka.1_Silent_p.E159E|CACNB2_uc001ipw.2_Silent_p.E132E|CACNB2_uc001ipx.2_Silent_p.E132E|CACNB2_uc009xkb.1_Silent_p.E133E|CACNB2_uc010qcm.1_Silent_p.E133E|CACNB2_uc001ipz.2_Silent_p.E133E|CACNB2_uc001ipy.2_Silent_p.E133E|CACNB2_uc010qcn.1_Silent_p.E139E|CACNB2_uc010qco.1_Silent_p.E139E|CACNB2_uc001iqa.2_Silent_p.E139E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	187					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18825082	18825082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18825082A>G	uc001ipr.2	+	12	1319	c.1259A>G	c.(1258-1260)AAC>AGC	p.N420S	CACNB2_uc009xjz.1_Missense_Mutation_p.N170S|CACNB2_uc001ips.2_Missense_Mutation_p.N396S|CACNB2_uc001ipt.2_Missense_Mutation_p.N382S|CACNB2_uc001ipu.2_Missense_Mutation_p.N392S|CACNB2_uc001ipv.2_Missense_Mutation_p.N368S|CACNB2_uc009xka.1_Missense_Mutation_p.N354S|CACNB2_uc001ipw.2_Missense_Mutation_p.N327S|CACNB2_uc001ipx.2_Missense_Mutation_p.N365S|CACNB2_uc001ipz.2_Missense_Mutation_p.N342S|CACNB2_uc001ipy.2_Missense_Mutation_p.N366S|CACNB2_uc010qco.1_Missense_Mutation_p.N334S|CACNB2_uc001iqa.2_Missense_Mutation_p.N372S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	420					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18827115	18827115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18827115T>C	uc001ipr.2	+	13	1369	c.1309T>C	c.(1309-1311)TTC>CTC	p.F437L	CACNB2_uc009xjz.1_Missense_Mutation_p.F187L|CACNB2_uc001ips.2_Missense_Mutation_p.F413L|CACNB2_uc001ipt.2_Missense_Mutation_p.F399L|CACNB2_uc001ipu.2_Missense_Mutation_p.F409L|CACNB2_uc001ipv.2_Missense_Mutation_p.F385L|CACNB2_uc009xka.1_Missense_Mutation_p.F371L|CACNB2_uc001ipw.2_Missense_Mutation_p.F344L|CACNB2_uc001ipx.2_Missense_Mutation_p.F382L|CACNB2_uc001ipz.2_Missense_Mutation_p.F359L|CACNB2_uc001ipy.2_Missense_Mutation_p.F383L|CACNB2_uc010qco.1_Missense_Mutation_p.F351L|CACNB2_uc001iqa.2_Missense_Mutation_p.F389L|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	437					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834947	18834947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18834947G>A	uc010qcp.1	-	11	1743	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	442							methyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21134226	21134226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21134226T>A	uc001iqi.2	-	12	1585	c.1188A>T	c.(1186-1188)GAA>GAT	p.E396D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	396	Nebulin 11.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21309122	21309122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21309122G>A	uc001iqk.2	-	3	527	c.173C>T	c.(172-174)CCG>CTG	p.P58L		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22208825	22208825	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22208825T>C	uc001irc.2	-	5	858	c.571A>G	c.(571-573)AAA>GAA	p.K191E	DNAJC1_uc001ird.2_Missense_Mutation_p.K77E	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	191	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)																---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22657522	22657522	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22657522G>C	uc001iri.2	+	4	529	c.387G>C	c.(385-387)ACG>ACC	p.T129T	SPAG6_uc001irj.2_Silent_p.T129T|SPAG6_uc010qct.1_Silent_p.T99T|SPAG6_uc009xkh.2_Silent_p.T107T	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	129	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22676751	22676751	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22676751G>A	uc001iri.2	+	6	821	c.679_splice	c.e6-1	p.H227_splice	SPAG6_uc001irj.2_Splice_Site_p.H227_splice|SPAG6_uc010qct.1_Splice_Site_p.H197_splice|SPAG6_uc009xkh.2_Splice_Site_p.H205_splice	NM_012443	NP_036575			sperm associated antigen 6 isoform 1						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24813641	24813641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24813641T>A	uc001iru.3	+	13	3249	c.2846T>A	c.(2845-2847)TTC>TAC	p.F949Y	KIAA1217_uc001irs.2_Missense_Mutation_p.F869Y|KIAA1217_uc001irt.3_Missense_Mutation_p.F914Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.F914Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.F914Y|KIAA1217_uc001irv.1_Missense_Mutation_p.F764Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irz.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irx.2_Missense_Mutation_p.F632Y|KIAA1217_uc001iry.2_Missense_Mutation_p.F632Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	949					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24908746	24908746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24908746G>A	uc001isb.2	-	9	2565	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.A693V|ARHGAP21_uc010qdc.1_Missense_Mutation_p.A528V|ARHGAP21_uc001isc.1_Missense_Mutation_p.A683V	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	692					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24909193	24909193	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24909193G>T	uc001isb.2	-	9	2118	c.1631C>A	c.(1630-1632)CCT>CAT	p.P544H	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P544H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P379H|ARHGAP21_uc001isc.1_Missense_Mutation_p.P534H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	543					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25226286	25226286	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25226286G>A	uc001ise.1	-	3	195	c.166C>T	c.(166-168)CTG>TTG	p.L56L	PRTFDC1_uc010qdd.1_Silent_p.L56L|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	56					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324093	27324093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27324093G>A	uc001ith.2	-	24	3455	c.3283C>T	c.(3283-3285)CGG>TGG	p.R1095W	ANKRD26_uc001itg.2_Missense_Mutation_p.R782W|ANKRD26_uc009xku.1_Missense_Mutation_p.R1096W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1095	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27409429	27409429	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27409429C>A	uc001iti.2	-	14	1699	c.1517G>T	c.(1516-1518)AGG>ATG	p.R506M	YME1L1_uc001itj.2_Missense_Mutation_p.R449M|YME1L1_uc010qdl.1_Missense_Mutation_p.R416M|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	506					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27475474	27475474	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27475474T>A	uc001itm.2	+	12					MASTL_uc001itl.2_3'UTR|MASTL_uc009xkw.1_3'UTR|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27512277	27512277	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27512277A>T	uc010qdp.1	-	5	671	c.480T>A	c.(478-480)GAT>GAA	p.D160E	ACBD5_uc010qdm.1_Missense_Mutation_p.D158E|ACBD5_uc010qdn.1_Missense_Mutation_p.D51E|ACBD5_uc010qdo.1_Missense_Mutation_p.D51E|ACBD5_uc001ito.2_Missense_Mutation_p.D125E|ACBD5_uc001itp.2_Missense_Mutation_p.D51E|ACBD5_uc001itq.2_Missense_Mutation_p.D51E|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	158					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0																		---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27688067	27688067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27688067G>A	uc001itu.2	-	4	1578	c.1460C>T	c.(1459-1461)GCA>GTA	p.A487V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	487	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28414032	28414032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28414032A>G	uc001iua.1	-						MPP7_uc009xkz.1_Intron|MPP7_uc001iub.1_Intron|MPP7_uc009xla.2_Intron|MPP7_uc010qdv.1_Intron	NM_173496	NP_775767			palmitoylated membrane protein 7						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28878772	28878772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28878772G>A	uc001iuf.2	+	5	574	c.489G>A	c.(487-489)TGG>TGA	p.W163*	WAC_uc001iud.2_Nonsense_Mutation_p.W118*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.W118*|WAC_uc001iug.2_Nonsense_Mutation_p.W163*|WAC_uc001iuh.2_Nonsense_Mutation_p.W118*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	163					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28903500	28903500	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28903500G>C	uc001iuf.2	+	11	1527	c.1442G>C	c.(1441-1443)AGT>ACT	p.S481T	WAC_uc001iud.2_Missense_Mutation_p.S436T|WAC_uc001iue.2_Missense_Mutation_p.S171T|WAC_uc001iug.2_Missense_Mutation_p.S378T|WAC_uc001iuh.2_Missense_Mutation_p.S433T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	481					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
BAMBI	25805	broad.mit.edu	37	10	28970330	28970330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28970330G>A	uc001iuj.1	+	2	623	c.220G>A	c.(220-222)GCA>ACA	p.A74T	BAMBI_uc001iui.2_Missense_Mutation_p.A74T	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	74	Extracellular (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4																		---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759284	29759284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29759284T>C	uc001iut.1	-	32	6517	c.5764A>G	c.(5764-5766)ATC>GTC	p.I1922V	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.I836V|SVIL_uc001iuu.1_Missense_Mutation_p.I1496V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1922	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29788121	29788121	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29788121C>A	uc001iut.1	-	18	4341	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	SVIL_uc010qdw.1_Missense_Mutation_p.E110D|SVIL_uc001iuu.1_Missense_Mutation_p.E770D|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1196					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29811383	29811383	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29811383C>A	uc001iut.1	-	16	4098	c.3345G>T	c.(3343-3345)GAG>GAT	p.E1115D	SVIL_uc010qdw.1_Missense_Mutation_p.E13D|SVIL_uc001iuu.1_Missense_Mutation_p.E689D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1115					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316580	30316580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30316580T>C	uc001iux.2	-	2	2556	c.2497A>G	c.(2497-2499)AGT>GGT	p.S833G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S695G|KIAA1462_uc009xle.1_Missense_Mutation_p.S833G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	833										ovary(4)	4																		---	---	---	---
MAP3K8	1326	broad.mit.edu	37	10	30749657	30749657	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30749657C>T	uc001ivi.1	+	9	1992	c.1296C>T	c.(1294-1296)ACC>ACT	p.T432T	MAP3K8_uc009xlf.1_Silent_p.T432T|MAP3K8_uc001ivj.1_Silent_p.T432T	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	432			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)																---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31134156	31134156	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31134156T>C	uc010qdz.1	-	8	2656	c.2221A>G	c.(2221-2223)ATG>GTG	p.M741V	ZNF438_uc001ivn.2_Missense_Mutation_p.M692V|ZNF438_uc010qdy.1_Missense_Mutation_p.M731V|ZNF438_uc001ivo.3_Missense_Mutation_p.M305V|ZNF438_uc009xlg.2_Missense_Mutation_p.M741V|ZNF438_uc001ivp.3_Missense_Mutation_p.M731V|ZNF438_uc010qea.1_Missense_Mutation_p.M741V|ZNF438_uc010qeb.1_Missense_Mutation_p.M741V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)																---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809776	31809776	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809776A>G	uc001ivs.3	+	7	1576	c.1513A>G	c.(1513-1515)AGT>GGT	p.S505G	ZEB1_uc001ivr.3_Missense_Mutation_p.S287G|ZEB1_uc010qee.1_Missense_Mutation_p.S287G|ZEB1_uc010qef.1_Missense_Mutation_p.S287G|ZEB1_uc009xlj.1_Missense_Mutation_p.S431G|ZEB1_uc010qeg.1_Missense_Mutation_p.S364G|ZEB1_uc009xlk.1_Missense_Mutation_p.S287G|ZEB1_uc001ivt.3_Missense_Mutation_p.S287G|ZEB1_uc001ivu.3_Missense_Mutation_p.S506G|ZEB1_uc001ivv.3_Missense_Mutation_p.S485G|ZEB1_uc010qeh.1_Missense_Mutation_p.S438G|ZEB1_uc009xlo.1_Missense_Mutation_p.S488G|ZEB1_uc009xlp.2_Missense_Mutation_p.S489G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	505					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32560682	32560682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32560682T>C	uc001iwg.1	-	14	2508	c.2238A>G	c.(2236-2238)ACA>ACG	p.T746T	EPC1_uc001iwi.3_Silent_p.T673T|EPC1_uc001iwh.1_Silent_p.T723T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	746					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)																---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33491884	33491884	+	Missense_Mutation	SNP	A	G	G	rs143549013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33491884A>G	uc001iwx.3	-	11	2322	c.1799T>C	c.(1798-1800)GTG>GCG	p.V600A	NRP1_uc001iwv.3_Missense_Mutation_p.V600A|NRP1_uc009xlz.2_Missense_Mutation_p.V600A|NRP1_uc001iww.3_Missense_Mutation_p.V419A|NRP1_uc001iwy.3_Missense_Mutation_p.V600A|NRP1_uc001iwz.2_Missense_Mutation_p.V600A|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Missense_Mutation_p.V600A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	600	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35360229	35360229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35360229C>T	uc001ixv.2	-	2	227	c.17G>A	c.(16-18)AGA>AAA	p.R6K	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.R25K|CUL2_uc001ixw.2_Missense_Mutation_p.R6K|CUL2_uc010qes.1_Missense_Mutation_p.R6K	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	6					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3																		---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35896548	35896548	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35896548T>C	uc001iyy.1	+	2	265	c.107T>C	c.(106-108)GTG>GCG	p.V36A		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	36	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35929473	35929473	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35929473G>A	uc001iyz.1	-	1	890	c.885C>T	c.(883-885)ACC>ACT	p.T295T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	295	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0																		---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345455	38345455	+	Silent	SNP	A	T	T	rs12242343	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38345455A>T	uc001izh.2	+	5	2578	c.2400A>T	c.(2398-2400)GGA>GGT	p.G800G	ZNF33A_uc001izg.2_Silent_p.G801G|ZNF33A_uc010qev.1_Silent_p.G807G|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	800						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089023	43089023	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089023G>T	uc001jaf.1	-	5	1490	c.1375C>A	c.(1375-1377)CAC>AAC	p.H459N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H347N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	459	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089341	43089341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089341C>T	uc001jaf.1	-	5	1172	c.1057G>A	c.(1057-1059)GGA>AGA	p.G353R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.G241R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43325851	43325851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43325851G>A	uc001jaj.2	+	22	3957	c.3599G>A	c.(3598-3600)CGC>CAC	p.R1200H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R1200G(1)		ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139744	44139744	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139744A>T	uc001jbb.2	-	3	765	c.576T>A	c.(574-576)GAT>GAA	p.D192E	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.D192E	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	192	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139814	44139814	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139814C>G	uc001jbb.2	-	3	695	c.506G>C	c.(505-507)AGC>ACC	p.S169T	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.S169T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	169	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480371	45480371	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480371A>G	uc001jbo.2	+	6	618	c.484A>G	c.(484-486)ATC>GTC	p.I162V	RASSF4_uc001jbp.2_Missense_Mutation_p.I193V|RASSF4_uc009xmn.2_Missense_Mutation_p.I92V|RASSF4_uc001jbq.2_Missense_Mutation_p.I59V|RASSF4_uc001jbt.2_Missense_Mutation_p.I119V	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	162					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480399	45480399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480399G>A	uc001jbo.2	+	6	646	c.512G>A	c.(511-513)GGC>GAC	p.G171D	RASSF4_uc001jbp.2_Missense_Mutation_p.G202D|RASSF4_uc009xmn.2_Missense_Mutation_p.G101D|RASSF4_uc001jbq.2_Missense_Mutation_p.G68D|RASSF4_uc001jbt.2_Missense_Mutation_p.G128D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	171					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121968	46121968	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121968A>T	uc001jcp.3	-	7	1545	c.1303T>A	c.(1303-1305)TTG>ATG	p.L435M	ANUBL1_uc001jcl.3_Translation_Start_Site|ANUBL1_uc001jcm.3_Missense_Mutation_p.L435M|ANUBL1_uc009xmu.2_Missense_Mutation_p.L361M|ANUBL1_uc001jcn.3_Missense_Mutation_p.L361M|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	435							zinc ion binding				0																		---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389189	48389189	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48389189T>C	uc001jez.2	-	1	1803	c.1689A>G	c.(1687-1689)ACA>ACG	p.T563T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	563	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)													---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48413794G>A	uc001jfa.1	-	2	1237	c.1074C>T	c.(1072-1074)GGC>GGT	p.G358G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49420096	49420096	+	Silent	SNP	G	A	A	rs116034209	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49420096G>A	uc001jgi.2	-	13	1619	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	FRMPD2_uc001jgh.2_Silent_p.I472I|FRMPD2_uc001jgj.2_Silent_p.I482I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49448436	49448436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49448436C>T	uc001jgi.2	-	6	774	c.667G>A	c.(667-669)GCA>ACA	p.A223T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A192T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A201T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	223					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49654565	49654565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49654565G>A	uc001jgt.2	-	10	2263	c.1966C>T	c.(1966-1968)CTG>TTG	p.L656L	ARHGAP22_uc001jgs.2_Silent_p.L566L|ARHGAP22_uc001jgu.2_Silent_p.L672L|ARHGAP22_uc010qgl.1_Silent_p.L613L|ARHGAP22_uc010qgm.1_Silent_p.L662L|ARHGAP22_uc001jgv.2_Silent_p.L354L|ARHGAP22_uc001jgr.2_Silent_p.L373L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	656	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1																		---	---	---	---
C10orf72	196740	broad.mit.edu	37	10	50227737	50227737	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50227737G>A	uc001jhf.2	-	8	950	c.921C>T	c.(919-921)AGC>AGT	p.S307S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50736484	50736484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50736484C>T	uc001jhs.3	-	4	785	c.631G>A	c.(631-633)GCC>ACC	p.A211T	PGBD3_uc009xoe.2_Missense_Mutation_p.A211T|PGBD3_uc001jhu.2_Missense_Mutation_p.A211T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	211					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16													Direct_reversal_of_damage|NER					---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819081	50819081	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50819081G>C	uc001jhw.2	+	1	735	c.295G>C	c.(295-297)GCG>CCG	p.A99P	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2																		---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50833609	50833609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50833609G>A	uc001jhz.2	+	6	996	c.843G>A	c.(841-843)CGG>CGA	p.R281R	CHAT_uc001jhv.1_Silent_p.R163R|CHAT_uc001jhx.1_Silent_p.R163R|CHAT_uc001jhy.1_Silent_p.R163R|CHAT_uc001jia.2_Silent_p.R163R|CHAT_uc010qgs.1_Silent_p.R163R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	281					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835644	50835644	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50835644T>C	uc001jhz.2	+						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_Intron|CHAT_uc001jhy.1_Intron|CHAT_uc001jia.2_Intron|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574			choline acetyltransferase isoform 2						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
AGAP7	653268	broad.mit.edu	37	10	51465221	51465221	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51465221A>G	uc001jio.2	-	7	1361	c.1235T>C	c.(1234-1236)GTC>GCC	p.V412A	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	412	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52071042	52071042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52071042G>A	uc001jje.2	-	9	1829	c.875C>T	c.(874-876)ACC>ATC	p.T292I	SGMS1_uc010qhk.1_Missense_Mutation_p.T123I|SGMS1_uc009xot.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	298	Helical; (Potential).				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2																		---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52610496	52610496	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52610496T>C	uc001jjj.2	-						A1CF_uc010qhn.1_Missense_Mutation_p.T18A|A1CF_uc001jji.2_Intron|A1CF_uc001jjh.2_Missense_Mutation_p.T18A|A1CF_uc010qho.1_Missense_Mutation_p.T18A|A1CF_uc009xov.2_Intron|A1CF_uc001jjk.1_Intron	NM_138932	NP_620310			apobec-1 complementation factor isoform 2						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1																		---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	52834553	52834553	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52834553T>C	uc001jjm.2	+						PRKG1_uc001jjn.2_Missense_Mutation_p.L68S|PRKG1_uc001jjo.2_Missense_Mutation_p.L68S|PRKG1_uc010qhp.1_Intron	NM_001098512	NP_001091982			protein kinase, cGMP-dependent, type I isoform						actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53457790	53457790	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53457790C>G	uc001jjp.2	-	1	1566	c.1520G>C	c.(1519-1521)GGT>GCT	p.G507A	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	507	2-1.|9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)														---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54530479	54530479	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54530479A>G	uc001jjt.2	-	2	320	c.255T>C	c.(253-255)TCT>TCC	p.S85S		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	85	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566537	55566537	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55566537A>G	uc010qhq.1	-	36	5246	c.4851T>C	c.(4849-4851)CCT>CCC	p.P1617P	PCDH15_uc010qhr.1_Silent_p.P1612P	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58117901	58117901	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58117901C>T	uc001jjx.1	-	9					ZWINT_uc001jjy.1_3'UTR|ZWINT_uc001jka.1_3'UTR	NM_007057	NP_008988			ZW10 interactor isoform a						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58119836	58119836	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58119836G>T	uc001jjx.1	-	3	236	c.199C>A	c.(199-201)CTG>ATG	p.L67M	ZWINT_uc001jjy.1_Missense_Mutation_p.L67M|ZWINT_uc001jka.1_Missense_Mutation_p.L67M|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	67					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60273031	60273031	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60273031G>T	uc001jki.1	+	1	128	c.128G>T	c.(127-129)AGC>ATC	p.S43I		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	43					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60562892	60562892	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60562892G>A	uc001jki.1	+	15	2071	c.2071G>A	c.(2071-2073)GCT>ACT	p.A691T	BICC1_uc001jkj.1_Missense_Mutation_p.A332T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	691					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61014096	61014096	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61014096A>G	uc001jkn.2	-						FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Intron|FAM13C_uc010qie.1_Intron|FAM13C_uc010qif.1_Intron|FAM13C_uc001jkp.2_Silent_p.D365D	NM_198215	NP_937858			hypothetical protein LOC220965 isoform 1											ovary(2)	2																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61083850	61083850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61083850A>G	uc001jkn.2	-	5	475	c.341T>C	c.(340-342)GTA>GCA	p.V114A	FAM13C_uc001jko.2_Missense_Mutation_p.V114A|FAM13C_uc010qid.1_Missense_Mutation_p.V31A|FAM13C_uc010qie.1_Missense_Mutation_p.V31A|FAM13C_uc010qif.1_Missense_Mutation_p.V136A|FAM13C_uc001jkp.2_Missense_Mutation_p.V31A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	114										ovary(2)	2																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828702	61828702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61828702G>A	uc001jky.2	-	37	12129	c.11937C>T	c.(11935-11937)AGC>AGT	p.S3979S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3979	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834285	61834285	+	Silent	SNP	G	A	A	rs116585069	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61834285G>A	uc001jky.2	-	37	6546	c.6354C>T	c.(6352-6354)CAC>CAT	p.H2118H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2118					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62652726	62652726	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62652726C>A	uc001jli.2	-	6	762	c.324G>T	c.(322-324)TCG>TCT	p.S108S	RHOBTB1_uc001jlh.2_Silent_p.S108S|RHOBTB1_uc001jlj.2_Silent_p.S108S|RHOBTB1_uc001jlk.2_Silent_p.S108S|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	108	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)																	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63188896	63188896	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63188896A>G	uc001jlo.2	-	4	762	c.393T>C	c.(391-393)GTT>GTC	p.V131V	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	131						integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64415333	64415333	+	Silent	SNP	G	A	A	rs141141483		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573486	64573486	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64573486G>T	uc010qim.1	-	3	1066	c.912C>A	c.(910-912)GCC>GCA	p.A304A	EGR2_uc010qin.1_Silent_p.A254A|EGR2_uc001jmi.2_Silent_p.A304A|EGR2_uc010qio.1_Silent_p.A317A|EGR2_uc009xph.2_Silent_p.A304A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	304	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64937580	64937580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64937580T>C	uc001jmn.2	-	23	7421	c.7121A>G	c.(7120-7122)GAC>GGC	p.D2374G	JMJD1C_uc001jml.2_Missense_Mutation_p.D2137G|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2086G|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2192G|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2192G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D281G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2374	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64944401	64944401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64944401G>A	uc001jmn.2	-	21	7228	c.6928C>T	c.(6928-6930)CCT>TCT	p.P2310S	JMJD1C_uc001jml.2_Missense_Mutation_p.P2073S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P2022S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P2128S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P2128S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.P217S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2310	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686693	68686693	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686693A>G	uc001jmz.1	+	2	569	c.19A>G	c.(19-21)AGG>GGG	p.R7G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R7G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	7						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686785	68686785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686785C>T	uc001jmz.1	+	2	661	c.111C>T	c.(109-111)GGC>GGT	p.G37G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.G37G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	37	Extracellular (Potential).|LRRNT.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979622	68979622	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68979622T>C	uc009xpn.1	-	6	709	c.586A>G	c.(586-588)AAA>GAA	p.K196E	CTNNA3_uc001jmw.2_Missense_Mutation_p.K196E|CTNNA3_uc001jmx.3_Missense_Mutation_p.K196E|CTNNA3_uc009xpo.1_Missense_Mutation_p.K56E|CTNNA3_uc001jna.2_Missense_Mutation_p.K208E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	196					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	69407206	69407206	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69407206G>A	uc009xpn.1	-	2	189	c.66C>T	c.(64-66)ACC>ACT	p.T22T	CTNNA3_uc001jmw.2_Silent_p.T22T|CTNNA3_uc001jmx.3_Silent_p.T22T|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.T34T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	22					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
DNAJC12	56521	broad.mit.edu	37	10	69583091	69583091	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69583091A>G	uc001jnb.2	-	2	306	c.138T>C	c.(136-138)CAT>CAC	p.H46H	DNAJC12_uc001jnc.2_Silent_p.H46H	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	46	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1																		---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69948775G>A	uc001jnm.3	+	14	3002	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T	MYPN_uc001jnn.3_Silent_p.T664T|MYPN_uc001jno.3_Silent_p.T939T|MYPN_uc009xpt.2_Silent_p.T939T|MYPN_uc010qit.1_Silent_p.T645T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5																		---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70056653	70056653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70056653G>A	uc001jns.1	-	3	377	c.174C>T	c.(172-174)AAC>AAT	p.N58N	PBLD_uc001jnr.1_Silent_p.N25N|PBLD_uc001jnt.1_Silent_p.N58N|PBLD_uc001jnu.1_Silent_p.N58N|PBLD_uc001jnv.1_Silent_p.N58N	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	58					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3																		---	---	---	---
HNRNPH3	3189	broad.mit.edu	37	10	70098890	70098890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70098890T>C	uc001jnw.3	+						HNRNPH3_uc001jnx.3_Intron|HNRNPH3_uc009xpu.2_Intron|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Intron	NM_012207	NP_036339			heterogeneous nuclear ribonucleoprotein H3						nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70138421	70138421	+	Intron	SNP	G	A	A	rs142776124	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70138421G>A	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Silent_p.N370N|RUFY2_uc010qiw.1_Silent_p.N346N	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70204764	70204764	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70204764T>C	uc001jof.2	-	8	1392	c.1392A>G	c.(1390-1392)ACA>ACG	p.T464T	DNA2_uc001jog.1_Silent_p.T378T|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	378					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0																		---	---	---	---
TET1	80312	broad.mit.edu	37	10	70404504	70404504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70404504A>T	uc001jok.3	+	4	2523	c.2018A>T	c.(2017-2019)GAC>GTC	p.D673V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	673	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70496769	70496769	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70496769G>T	uc001joo.2	+	3	329	c.210G>T	c.(208-210)CAG>CAT	p.Q70H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Missense_Mutation_p.Q70H|CCAR1_uc001jon.1_Missense_Mutation_p.A60S|CCAR1_uc010qiz.1_Missense_Mutation_p.Q70H|CCAR1_uc010qja.1_Missense_Mutation_p.Q70H|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	70					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70500386	70500386	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70500386T>C	uc001joo.2	+	5	411	c.292T>C	c.(292-294)TTA>CTA	p.L98L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Intron|CCAR1_uc001jon.1_Intron|CCAR1_uc010qiz.1_Silent_p.L83L|CCAR1_uc010qja.1_Silent_p.L83L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	98					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70645238	70645238	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70645238A>G	uc001jos.2	+	3	1773	c.1686A>G	c.(1684-1686)GAA>GAG	p.E562E	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.E452E	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	562						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71912223	71912223	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71912223G>A	uc010qjh.1	-	8					SAR1A_uc010qji.1_3'UTR|SAR1A_uc010qjj.1_3'UTR	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179739	72179739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179739C>T	uc001jrb.2	+	2	512	c.215C>T	c.(214-216)CCC>CTC	p.P72L		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	72					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72291167	72291167	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72291167C>A	uc001jrd.3	+	5	871	c.590C>A	c.(589-591)CCC>CAC	p.P197H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	197										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72297649	72297649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72297649A>G	uc001jrd.3	+	11	1591	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	437										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73377101	73377101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73377101A>G	uc001jrx.3	+	11	1462	c.1085A>G	c.(1084-1086)CAG>CGG	p.Q362R	CDH23_uc001jrw.3_Missense_Mutation_p.Q362R|CDH23_uc009xql.2_Missense_Mutation_p.Q407R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73468938	73468938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73468938G>A	uc001jrx.3	+	26	3567	c.3190G>A	c.(3190-3192)GCC>ACC	p.A1064T	CDH23_uc001jrz.2_Missense_Mutation_p.A680T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1064	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73537513	73537513	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73537513T>C	uc001jrx.3	+	37	5299	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1641	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74692183	74692183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74692183C>T	uc001jte.1	+	9	1757	c.1539C>T	c.(1537-1539)TGC>TGT	p.C513C	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	513	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)																	---	---	---	---
ZMYND17	118490	broad.mit.edu	37	10	75185715	75185715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75185715C>T	uc001jud.2	-	5	989	c.923G>A	c.(922-924)GGC>GAC	p.G308D	ZMYND17_uc001juc.2_Missense_Mutation_p.G308D|ZMYND17_uc009xrh.2_Missense_Mutation_p.G331D|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	308							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)																	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75231343	75231343	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75231343A>G	uc001jue.2	-	5	687	c.552T>C	c.(550-552)TAT>TAC	p.Y184Y	PPP3CB_uc001juf.2_Silent_p.Y184Y|PPP3CB_uc001jug.2_Silent_p.Y184Y|PPP3CB_uc001jui.2_Silent_p.Y202Y|PPP3CB_uc001juh.2_Silent_p.Y98Y	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	184	Catalytic.									skin(1)	1	Prostate(51;0.0119)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75260443	75260443	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75260443T>C	uc001juo.2	-	21	4482	c.4465A>G	c.(4465-4467)ACC>GCC	p.T1489A	USP54_uc010qkk.1_Missense_Mutation_p.T624A|USP54_uc001juk.2_Missense_Mutation_p.T577A|USP54_uc001jul.2_Missense_Mutation_p.T530A|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1489					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75331241	75331241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75331241T>C	uc001juo.2	-	2	195	c.178A>G	c.(178-180)AGC>GGC	p.S60G	USP54_uc001jup.2_Missense_Mutation_p.S60G|USP54_uc010qkl.1_Missense_Mutation_p.S60G	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	60					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406539	75406539	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75406539T>A	uc001jut.3	-	4	3023	c.2871A>T	c.(2869-2871)CGA>CGT	p.R957R	SYNPO2L_uc001jus.3_Silent_p.R733R	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	957						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75530709	75530709	+	Intron	SNP	G	A	A	rs143818883	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75530709G>A	uc001juw.2	+						SEC24C_uc001jux.2_Intron|SEC24C_uc010qko.1_Intron|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913			SEC24-related protein C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75555382	75555382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75555382A>G	uc009xrl.2	+	15	3011	c.2979A>G	c.(2977-2979)CTA>CTG	p.L993L	KIAA0913_uc001jve.2_Silent_p.L998L|KIAA0913_uc001jvf.2_Silent_p.L993L|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.L421L|KIAA0913_uc010qkr.1_Silent_p.L416L|KIAA0913_uc001jvj.2_Silent_p.L416L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	993							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75576871	75576871	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75576871T>C	uc001jvv.1	-	19	1448	c.1324A>G	c.(1324-1326)ATT>GTT	p.I442V	CAMK2G_uc001jvm.1_Missense_Mutation_p.I450V|CAMK2G_uc001jvo.1_Missense_Mutation_p.I421V|CAMK2G_uc001jvq.1_Missense_Mutation_p.I398V|CAMK2G_uc001jvr.1_Missense_Mutation_p.I389V|CAMK2G_uc001jvp.1_Missense_Mutation_p.I412V|CAMK2G_uc001jvs.1_Missense_Mutation_p.I433V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I390V|CAMK2G_uc009xrp.1_Missense_Mutation_p.I39V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	452					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75868743	75868743	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75868743T>C	uc001jwd.2	+	18	2668	c.2574T>C	c.(2572-2574)CTT>CTC	p.L858L	VCL_uc009xrr.2_Silent_p.L607L|VCL_uc010qky.1_Silent_p.L765L|VCL_uc001jwe.2_Silent_p.L858L|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	858	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78647281	78647281	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78647281G>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron|uc001jxp.2_5'Flank	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729727	78729727	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78729727C>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79556266	79556266	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79556266C>T	uc001jzk.2	-	28	5321	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M	DLG5_uc001jzi.2_Missense_Mutation_p.V506M|DLG5_uc001jzj.2_Missense_Mutation_p.V1166M|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1751	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79569349	79569349	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79569349C>T	uc001jzk.2	-	24	4673	c.4603G>A	c.(4603-4605)GCC>ACC	p.A1535T	DLG5_uc001jzi.2_Missense_Mutation_p.A290T|DLG5_uc001jzj.2_Missense_Mutation_p.A950T|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1535	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79761991	79761991	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79761991T>C	uc001jzn.2	-	17	2417	c.2323A>G	c.(2323-2325)AAC>GAC	p.N775D		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	775					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79773500	79773500	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79773500T>C	uc001jzn.2	-	11	1574	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	494					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	80968104	80968104	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:80968104T>A	uc001kaf.2	+	6	644	c.72T>A	c.(70-72)AAT>AAA	p.N24K	ZMIZ1_uc001kae.2_Missense_Mutation_p.N24K	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	24					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)															---	---	---	---
DYDC2	84332	broad.mit.edu	37	10	82126469	82126469	+	Missense_Mutation	SNP	C	T	T	rs142842576		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82126469C>T	uc001kca.1	+	5	676	c.296C>T	c.(295-297)ACG>ATG	p.T99M	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.T99M	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	99							protein binding				0			Colorectal(32;0.229)															---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82280515	82280515	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82280515A>G	uc001kcj.3	+	9					TSPAN14_uc009xss.2_3'UTR|TSPAN14_uc001kci.3_3'UTR	NM_030927	NP_112189			tetraspanin 14 isoform 1							integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)															---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85970802	85970802	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85970802G>T	uc001kcv.2	+	13	1366	c.1366G>T	c.(1366-1368)GCG>TCG	p.A456S	CDHR1_uc001kcw.2_Missense_Mutation_p.A456S|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	456	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973041	85973041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85973041G>T	uc001kcv.2	+	16	1977	c.1977G>T	c.(1975-1977)AAG>AAT	p.K659N	CDHR1_uc001kcw.2_Missense_Mutation_p.K659N|CDHR1_uc009xst.2_Missense_Mutation_p.K363N|CDHR1_uc001kcx.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	659	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373349	87373349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:87373349G>A	uc001kdl.1	-	15	2517	c.2416C>T	c.(2416-2418)CCG>TCG	p.P806S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P377S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	806	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)										Multiple Myeloma(13;0.14)			---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703005	88703005	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703005C>T	uc001kea.2	-	6	1663	c.1536G>A	c.(1534-1536)ACG>ACA	p.T512T	MMRN2_uc010qmn.1_Silent_p.T155T|MMRN2_uc009xtb.2_Silent_p.T469T	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	512						extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703232	88703232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703232G>A	uc001kea.2	-	6	1436	c.1309C>T	c.(1309-1311)CAG>TAG	p.Q437*	MMRN2_uc010qmn.1_Nonsense_Mutation_p.Q80*|MMRN2_uc009xtb.2_Nonsense_Mutation_p.Q394*	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	437	Potential.					extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88705404	88705404	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88705404T>C	uc001kea.2	-	2	334	c.207A>G	c.(205-207)CTA>CTG	p.L69L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	69	EMI.					extracellular space				large_intestine(1)	1																		---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88817455	88817455	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88817455C>A	uc001keh.2	-	11	1584	c.1487G>T	c.(1486-1488)AGG>ATG	p.R496M	GLUD1_uc001keg.2_Missense_Mutation_p.R329M|GLUD1_uc010qmp.1_Missense_Mutation_p.R363M	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	496					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
MINPP1	9562	broad.mit.edu	37	10	89312069	89312069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89312069G>A	uc001keu.2	+	5	1748	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_3'UTR	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	433					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)														---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89469058	89469058	+	Missense_Mutation	SNP	G	A	A	rs142362349		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89469058G>A	uc001kex.2	+	2	396	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PAPSS2_uc001kew.2_Missense_Mutation_p.V45M|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	45	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)														---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89685303	89685303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89685303G>A	uc001kfb.2	+	4	1229	c.198G>A	c.(196-198)AAG>AAA	p.K66K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	66	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R55fs*1(4)|p.K66N(3)|p.K66E(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K66fs*38(1)|p.K66Q(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692811	89692811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692811G>A	uc001kfb.2	+	6	1326	c.295G>A	c.(295-297)GAA>AAA	p.E99K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	99	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.E99*(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.E99fs*15(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692895	89692895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692895G>A	uc001kfb.2	+	6	1410	c.379G>A	c.(379-381)GGA>AGA	p.G127R		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	127	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.G127E(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.G127V(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
CH25H	9023	broad.mit.edu	37	10	90966740	90966740	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90966740G>A	uc001kfz.2	-	1	332	c.310C>T	c.(310-312)CTG>TTG	p.L104L		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	104	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)														---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066414	91066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91066414A>G	uc009xts.2	+	2	876	c.701A>G	c.(700-702)AAG>AGG	p.K234R	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	234					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)																---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92502258T>C	uc001kha.2	-	4	1664	c.1421A>G	c.(1420-1422)AAG>AGG	p.K474R	HTR7_uc001kgz.2_Silent_p.K441K|HTR7_uc001khb.2_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	474	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)													---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93242786	93242786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93242786T>C	uc001khl.2	+	8	874	c.774T>C	c.(772-774)GCT>GCC	p.A258A	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Silent_p.A258A|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1																		---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390605	93390605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93390605A>T	uc001kho.2	-	2	165	c.33T>A	c.(31-33)GAT>GAA	p.D11E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	11							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)																---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93602099	93602099	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93602099A>G	uc001khp.2	+	16	2307	c.2010A>G	c.(2008-2010)GTA>GTG	p.V670V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	670					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93711220	93711220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93711220G>A	uc001khr.2	+	5	559	c.461G>A	c.(460-462)GGC>GAC	p.G154D	BTAF1_uc009xua.1_RNA	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93740222	93740222	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93740222T>G	uc001khr.2	+	15	1760	c.1662T>G	c.(1660-1662)TCT>TCG	p.S554S	BTAF1_uc001khs.1_Silent_p.S224S|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	554	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94373156	94373156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94373156A>G	uc001kic.2	+	8	1120	c.812A>G	c.(811-813)AAC>AGC	p.N271S	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	271	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1																		---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Silent	SNP	C	T	T	rs75784691	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94688101C>T	uc001kig.2	+	9	960	c.894C>T	c.(892-894)GAC>GAT	p.D298D	EXOC6_uc010qnr.1_Silent_p.D314D|EXOC6_uc001kie.2_Silent_p.D293D|EXOC6_uc009xub.2_Silent_p.D298D|EXOC6_uc009xuc.2_Silent_p.D275D|EXOC6_uc001kih.2_RNA	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	298					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)																---	---	---	---
CYP26C1	340665	broad.mit.edu	37	10	94822706	94822706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94822706A>G	uc010qns.1	+	3	659	c.659A>G	c.(658-660)AAC>AGC	p.N220S	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	220					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)																---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95079778	95079778	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95079778G>A	uc001kin.2	-						MYOF_uc001kio.2_Intron|MYOF_uc009xue.2_Intron	NM_013451	NP_038479			myoferlin isoform a						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95110997	95110997	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95110997A>G	uc001kin.2	-	35	4001	c.3878T>C	c.(3877-3879)GTC>GCC	p.V1293A	MYOF_uc001kio.2_Missense_Mutation_p.V1280A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1293	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95119640	95119640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95119640C>A	uc001kin.2	-	29	3193	c.3070G>T	c.(3070-3072)GTC>TTC	p.V1024F	MYOF_uc001kio.2_Missense_Mutation_p.V1011F|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1024	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
TMEM20	159371	broad.mit.edu	37	10	95660549	95660549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95660549A>G	uc001kjg.1	+	3	461	c.400A>G	c.(400-402)ATT>GTT	p.I134V	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.I133V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.I117V|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	134	DUF6 1.|Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)														---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95931262	95931262	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95931262C>T	uc001kjk.2	+						PLCE1_uc010qnx.1_Intron|PLCE1_uc001kjm.2_Intron	NM_016341	NP_057425			phospholipase C, epsilon 1 isoform 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96033402	96033402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96033402A>G	uc001kjk.2	+	19	5224	c.4590A>G	c.(4588-4590)CAA>CAG	p.Q1530Q	PLCE1_uc010qnx.1_Silent_p.Q1514Q|PLCE1_uc001kjm.2_Silent_p.Q1222Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1530	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96084175G>A	uc001kjk.2	+	31	7205	c.6571G>A	c.(6571-6573)GAA>AAA	p.E2191K	PLCE1_uc010qnx.1_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.2_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2191	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96109949	96109949	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96109949A>G	uc001kjq.1	-	9	1137	c.1049T>C	c.(1048-1050)TTG>TCG	p.L350S	NOC3L_uc009xuk.1_Missense_Mutation_p.L135S	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	350						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96313922	96313922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96313922T>C	uc001kjt.2	+	3	298	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	HELLS_uc001kjs.2_Missense_Mutation_p.Y49H|HELLS_uc009xul.2_Missense_Mutation_p.Y65H|HELLS_uc009xum.2_Missense_Mutation_p.Y65H|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.Y65H|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	65	Potential.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)														---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96535189	96535189	+	Missense_Mutation	SNP	G	A	A	rs141774245	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96535189G>A	uc010qnz.1	+	3	374	c.374G>A	c.(373-375)CGT>CAT	p.R125H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R103H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	125					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)													---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817790	97817790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817790T>C	uc001klm.2	+	6	1270	c.911T>C	c.(910-912)GTA>GCA	p.V304A	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.V315A|CCNJ_uc001kln.2_Missense_Mutation_p.V303A	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	304						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817887	97817887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817887G>A	uc001klm.2	+	6	1367	c.1008G>A	c.(1006-1008)GGG>GGA	p.G336G	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.G347G|CCNJ_uc001kln.2_Silent_p.G335G	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	336						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98087280	98087280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98087280C>T	uc001kmf.2	+	7	1100	c.930C>T	c.(928-930)GCC>GCT	p.A310A	DNTT_uc001kmg.2_Silent_p.A310A	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	310	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)														---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98192700	98192700	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98192700T>C	uc001kml.1	-	4	610	c.384A>G	c.(382-384)ACA>ACG	p.T128T	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	128					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98303917	98303917	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98303917T>G	uc001kmm.3	-	9	1318	c.1101A>C	c.(1099-1101)CCA>CCC	p.P367P	TM9SF3_uc010qot.1_Silent_p.P367P|TM9SF3_uc001kmn.1_Silent_p.P136P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	367	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98307727	98307727	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98307727T>C	uc001kmm.3	-	8	1196	c.979A>G	c.(979-981)ACA>GCA	p.T327A	TM9SF3_uc010qot.1_Missense_Mutation_p.T327A|TM9SF3_uc001kmn.1_Missense_Mutation_p.T96A	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	327						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98355389	98355389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98355389G>T	uc001kmq.2	-	17	2491	c.2363C>A	c.(2362-2364)CCT>CAT	p.P788H	PIK3AP1_uc001kmo.2_Missense_Mutation_p.P387H|PIK3AP1_uc001kmp.2_Missense_Mutation_p.P610H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	788	Pro-rich.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---
LCOR	84458	broad.mit.edu	37	10	98714929	98714929	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98714929A>T	uc001kms.1	+	8	1073	c.552A>T	c.(550-552)GGA>GGT	p.G184G	LCOR_uc001kmr.2_Silent_p.G184G|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.G184G|LCOR_uc001kmu.1_Silent_p.G184G	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	184						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)														---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98741550	98741550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98741550A>G	uc001kmv.2	+	1	510	c.403A>G	c.(403-405)ATA>GTA	p.I135V	C10orf12_uc009xvg.1_Missense_Mutation_p.I445V	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	135										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)														---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99016073	99016073	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99016073A>G	uc001knb.2	-	6	956	c.927_splice	c.e6+1	p.K309_splice	ARHGAP19_uc001kmy.2_Splice_Site|ARHGAP19_uc001kna.2_Splice_Site_p.K300_splice|ARHGAP19_uc009xvi.2_Splice_Site|ARHGAP19_uc009xvj.2_Intron|ARHGAP19_uc009xvk.2_Splice_Site_p.K103_splice	NM_032900	NP_116289			Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)														---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99200918	99200918	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99200918T>C	uc001kni.2	-						EXOSC1_uc009xvp.1_Intron	NM_016046	NP_057130			exosomal core protein CSL4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)														---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99212269	99212269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99212269T>C	uc001knj.2	+						ZDHHC16_uc001knp.2_Intron|ZDHHC16_uc001knk.2_Intron|ZDHHC16_uc001knl.2_Intron|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Intron|ZDHHC16_uc010qow.1_Intron|ZDHHC16_uc009xvq.2_Intron|ZDHHC16_uc001kno.2_Intron|ZDHHC16_uc009xvr.2_Intron	NM_198046	NP_932163			Abl-philin 2 isoform 1						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)														---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99236709	99236709	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99236709G>T	uc001kns.3	-	7	730	c.505C>A	c.(505-507)CTA>ATA	p.L169I	MMS19_uc009xvt.2_Missense_Mutation_p.L11I|MMS19_uc001knr.2_Missense_Mutation_p.L11I|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Missense_Mutation_p.L169I|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	169					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99327773	99327773	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99327773C>T	uc001knv.1	+	2	366	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	58											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99344676	99344676	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99344676G>A	uc010qoy.1	+						DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron	NM_018425	NP_060895			phosphatidylinositol 4-kinase type 2 alpha						phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)														---	---	---	---
C10orf62	414157	broad.mit.edu	37	10	99349971	99349971	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99349971T>A	uc001koa.2	+	1	488	c.317T>A	c.(316-318)ATC>AAC	p.I106N	DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	hypothetical protein LOC414157	106							protein binding				0		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968748	99968748	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968748G>A	uc001kow.3	+	4	1172	c.877G>A	c.(877-879)GCC>ACC	p.A293T	C10orf28_uc001kox.3_Missense_Mutation_p.A293T|C10orf28_uc001koy.3_Missense_Mutation_p.A293T|C10orf28_uc009xvx.2_Missense_Mutation_p.A293T|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	293							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968819	99968819	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968819T>C	uc001kow.3	+	4	1243	c.948T>C	c.(946-948)TCT>TCC	p.S316S	C10orf28_uc001kox.3_Silent_p.S316S|C10orf28_uc001koy.3_Silent_p.S316S|C10orf28_uc009xvx.2_Silent_p.S316S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	316							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100157113	100157113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100157113A>G	uc001kpc.2	-	6	700	c.614T>C	c.(613-615)CTG>CCG	p.L205P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.L205P|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	205							oxidoreductase activity			central_nervous_system(1)	1																		---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101122008	101122008	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101122008A>G	uc001kpp.3	+	4	2172	c.1883A>G	c.(1882-1884)TAC>TGC	p.Y628C	CNNM1_uc009xwe.2_Missense_Mutation_p.Y628C|CNNM1_uc010qpi.1_Missense_Mutation_p.Y628C|CNNM1_uc009xwf.2_Missense_Mutation_p.Y628C|CNNM1_uc009xwg.2_Missense_Mutation_p.Y28C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	628					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)														---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101370714	101370714	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101370714C>A	uc001kpx.2	-	4	1116	c.987G>T	c.(985-987)CAG>CAT	p.Q329H	SLC25A28_uc001kpy.2_Missense_Mutation_p.Q142H	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	329	Helical; Name=6; (Potential).|Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101445607	101445607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101445607C>A	uc001kqa.3	+	6	785	c.607C>A	c.(607-609)CTC>ATC	p.L203I	ENTPD7_uc009xwl.2_Missense_Mutation_p.L205I	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	203	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101462387	101462387	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101462387A>G	uc001kqa.3	+	12	1718	c.1540A>G	c.(1540-1542)ACG>GCG	p.T514A	ENTPD7_uc009xwl.2_Missense_Mutation_p.T516A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	514	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101728939	101728939	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101728939T>C	uc001kqj.2	-	3	293	c.201A>G	c.(199-201)GGA>GGG	p.G67G		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	67	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)														---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101835695	101835695	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101835695G>T	uc001kql.2	-	2	653	c.393C>A	c.(391-393)CCC>CCA	p.P131P		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	131	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)														---	---	---	---
POLL	27343	broad.mit.edu	37	10	103344632	103344632	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103344632A>G	uc001ktg.1	-	4	1384	c.618T>C	c.(616-618)GTT>GTC	p.V206V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.V206V|POLL_uc001ktj.1_Silent_p.V206V|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.V206V|POLL_uc001ktl.2_Silent_p.V118V|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.L64S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	206					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103553732	103553732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103553732G>A	uc001ktv.2	-	11	2451	c.2008C>T	c.(2008-2010)CAA>TAA	p.Q670*	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Q617*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Q617*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	670	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103559054	103559054	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103559054T>C	uc001ktv.2	-	9	1797	c.1354A>G	c.(1354-1356)ACC>GCC	p.T452A	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T399A|MGEA5_uc009xws.2_Missense_Mutation_p.T399A|MGEA5_uc001ktw.2_Missense_Mutation_p.T452A|MGEA5_uc009xwt.2_Missense_Mutation_p.T215A	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	452					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103825824	103825824	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103825824G>T	uc001kuj.2	+	1	678	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	198						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										Hermansky-Pudlak_syndrome				---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103900766	103900766	+	Missense_Mutation	SNP	C	T	T	rs17855877	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103900766C>T	uc001kum.2	+	5	2540	c.2501C>T	c.(2500-2502)CCT>CTT	p.P834L	PPRC1_uc001kun.2_Missense_Mutation_p.P714L|PPRC1_uc010qqj.1_Missense_Mutation_p.P834L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	834	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908403	103908403	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908403A>G	uc001kum.2	+	11	4608	c.4569A>G	c.(4567-4569)TCA>TCG	p.S1523S	PPRC1_uc001kun.2_Silent_p.S1401S|PPRC1_uc010qqj.1_Silent_p.S1259S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1523	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908641	103908641	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908641G>T	uc001kum.2	+	12	4724	c.4685G>T	c.(4684-4686)AGG>ATG	p.R1562M	PPRC1_uc001kun.2_Missense_Mutation_p.R1440M|PPRC1_uc010qqj.1_Missense_Mutation_p.R1298M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1562	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103918966	103918966	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103918966A>G	uc001kuo.2	+	6	859	c.624A>G	c.(622-624)AAA>AAG	p.K208K	NOLC1_uc001kup.2_Silent_p.K208K|NOLC1_uc001kuq.2_Silent_p.K209K|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	208	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920746	103920746	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103920746C>T	uc001kuo.2	+	10	1872	c.1637C>T	c.(1636-1638)GCC>GTC	p.A546V	NOLC1_uc001kup.2_Missense_Mutation_p.A556V|NOLC1_uc001kuq.2_Missense_Mutation_p.A547V|NOLC1_uc009xxb.1_Missense_Mutation_p.A265V|NOLC1_uc001kur.2_Missense_Mutation_p.A265V	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	546	Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104118448	104118448	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104118448A>G	uc001kux.1	+	10	1213	c.973A>G	c.(973-975)AGC>GGC	p.S325G	GBF1_uc001kuw.2_Missense_Mutation_p.S325G|GBF1_uc001kuy.1_Missense_Mutation_p.S325G|GBF1_uc001kuz.1_Missense_Mutation_p.S325G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	325					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
CUEDC2	79004	broad.mit.edu	37	10	104184863	104184863	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104184863C>A	uc001kvn.2	-						CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945			CUE domain containing 2							cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
ACTR1A	10121	broad.mit.edu	37	10	104247992	104247992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104247992T>C	uc001kvv.2	-	4	338	c.230A>G	c.(229-231)CAT>CGT	p.H77R	ACTR1A_uc010qqn.1_Missense_Mutation_p.H3R|ACTR1A_uc010qqo.1_Missense_Mutation_p.H30R	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	77					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)														---	---	---	---
ARL3	403	broad.mit.edu	37	10	104445597	104445597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104445597T>C	uc001kwa.2	-	5	635	c.477A>G	c.(475-477)TCA>TCG	p.S159S		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	159	GTP (By similarity).				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104536182	104536182	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104536182T>C	uc001kwe.3	+						C10orf26_uc001kwf.3_Intron|C10orf26_uc009xxg.1_Intron	NM_017787	NP_060257			hypothetical protein LOC54838 isoform 2							integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104557771	104557771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104557771A>G	uc001kwe.3	+	2	309	c.49A>G	c.(49-51)ACC>GCC	p.T17A	C10orf26_uc001kwf.3_Missense_Mutation_p.T38A|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	17						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104622686	104622686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104622686A>G	uc001kwj.2	+	5	403	c.4A>G	c.(4-6)ACA>GCA	p.T2A	C10orf32_uc001kwh.2_3'UTR|C10orf32_uc001kwi.2_3'UTR	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	Error:Variant_position_missing_in_Q9HBK9_after_alignment					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679501	104679501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679501G>A	uc001kwm.2	+	1	1388	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	CNNM2_uc001kwn.2_Missense_Mutation_p.D422N|CNNM2_uc001kwl.2_Missense_Mutation_p.D422N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	422	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104836918	104836918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104836918A>G	uc001kwm.2	+	8	2733	c.2609A>G	c.(2608-2610)CAC>CGC	p.H870R	CNNM2_uc001kwn.2_Missense_Mutation_p.H848R	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	870					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
INA	9118	broad.mit.edu	37	10	105037837	105037837	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105037837A>C	uc001kws.2	+	1	918	c.869A>C	c.(868-870)AAG>ACG	p.K290T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.K290T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105143129	105143129	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105143129A>G	uc001kwv.2	+						TAF5_uc010qqq.1_Intron	NM_006951	NP_008882			TBP-associated factor 5						histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105185263	105185263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105185263C>T	uc001kwy.1	+	20	3373	c.3286C>T	c.(3286-3288)CGA>TGA	p.R1096*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1096	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105203692	105203692	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105203692C>T	uc001kwy.1	+	34	5232	c.5145C>T	c.(5143-5145)AAC>AAT	p.N1715N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1715	HAT 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105677279	105677279	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105677279G>A	uc001kxl.2	-	1	149	c.74C>T	c.(73-75)GCC>GTC	p.A25V	OBFC1_uc001kxm.2_Missense_Mutation_p.A25V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	25					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)														---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761204	105761204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105761204T>C	uc001kxo.1	+	8	901	c.867T>C	c.(865-867)CAT>CAC	p.H289H	SLK_uc001kxp.1_Silent_p.H289H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	289	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105799267	105799267	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105799267A>C	uc001kxr.2	-	43	3001	c.2832T>G	c.(2830-2832)TCT>TCG	p.S944S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	944	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815736	105815736	+	Silent	SNP	C	T	T	rs143263539		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105815736C>T	uc001kxr.2	-	18	1660	c.1491G>A	c.(1489-1491)GCG>GCA	p.A497A	COL17A1_uc010qqv.1_Silent_p.A481A	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	497	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105817937	105817937	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105817937T>A	uc001kxr.2	-	16	1403	c.1234A>T	c.(1234-1236)ACT>TCT	p.T412S	COL17A1_uc010qqv.1_Missense_Mutation_p.T396S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	412	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105903402	105903402	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105903402T>C	uc001kxw.2	-						C10orf79_uc009xxq.2_Intron	NM_025145	NP_079421			hypothetical protein LOC80217												0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105920858	105920858	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105920858T>C	uc001kxw.2	-	27	3593	c.3477A>G	c.(3475-3477)AAA>AAG	p.K1159K	C10orf79_uc009xxq.2_Silent_p.K467K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1159	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106602578	106602578	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106602578A>G	uc001kyi.1	+	2	883	c.656A>G	c.(655-657)GAC>GGC	p.D219G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	219	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)														---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108339123	108339123	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108339123G>A	uc001kym.2	-						SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_Intron|SORCS1_uc001kyo.2_Silent_p.C1125C	NM_052918	NP_443150			SORCS receptor 1 isoform a							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111642211	111642211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111642211A>G	uc001kyp.1	-	10	1031	c.891T>C	c.(889-891)GCT>GCC	p.A297A	XPNPEP1_uc009xxt.1_Silent_p.A340A|XPNPEP1_uc001kyq.1_Silent_p.A226A|XPNPEP1_uc010qrb.1_Silent_p.A340A|XPNPEP1_uc010qra.1_Silent_p.A64A	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111876060	111876060	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111876060T>A	uc001kyt.3	+	5	692	c.378T>A	c.(376-378)GAT>GAA	p.D126E	ADD3_uc001kys.3_Missense_Mutation_p.D126E|ADD3_uc001kyu.2_Missense_Mutation_p.D126E|ADD3_uc001kyv.2_Missense_Mutation_p.D126E|ADD3_uc001kyw.2_Missense_Mutation_p.D126E	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	126						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111879279	111879279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111879279C>T	uc001kyt.3	+	9	1231	c.917C>T	c.(916-918)GCT>GTT	p.A306V	ADD3_uc001kys.3_Missense_Mutation_p.A306V|ADD3_uc001kyu.2_Missense_Mutation_p.A306V|ADD3_uc001kyv.2_Missense_Mutation_p.A306V|ADD3_uc001kyw.2_Missense_Mutation_p.A306V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	306						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
SMNDC1	10285	broad.mit.edu	37	10	112053968	112053968	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112053968T>G	uc001kzc.3	-	6	859	c.657A>C	c.(655-657)AAA>AAC	p.K219N	SMNDC1_uc001kzb.2_Missense_Mutation_p.K140N	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	219					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)														---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112266745	112266745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112266745C>T	uc001kzd.2	+	3	836	c.581C>T	c.(580-582)GCA>GTA	p.A194V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	194	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112349459	112349459	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112349459G>T	uc001kze.2	+	14	1528	c.1402G>T	c.(1402-1404)GAA>TAA	p.E468*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	468	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112352988	112352988	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112352988A>G	uc001kze.2	+							NM_005445	NP_005436			structural maintenance of chromosomes 3						cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112357915	112357915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112357915A>G	uc001kze.2	+	20	2261	c.2135A>G	c.(2134-2136)GAT>GGT	p.D712G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	712	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SHOC2	8036	broad.mit.edu	37	10	112769025	112769025	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112769025A>T	uc001kzl.3	+	7	1653	c.1304A>T	c.(1303-1305)AAT>ATT	p.N435I	SHOC2_uc009xxx.2_Missense_Mutation_p.N435I|SHOC2_uc010qrg.1_Missense_Mutation_p.N74I|SHOC2_uc001kzn.2_Missense_Mutation_p.N389I	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	435	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115375543	115375543	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115375543C>A	uc001laj.2	-	27	3170	c.3006G>T	c.(3004-3006)AAG>AAT	p.K1002N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.K967N|NRAP_uc001lal.3_Missense_Mutation_p.K1002N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1002	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115411615	115411615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115411615C>T	uc001laj.2	-	7	786	c.622G>A	c.(622-624)GTG>ATG	p.V208M	NRAP_uc001lak.2_Missense_Mutation_p.V208M|NRAP_uc001lal.3_Missense_Mutation_p.V208M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	208	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115639443	115639443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115639443C>A	uc001lax.1	+	4	1110	c.898C>A	c.(898-900)CTT>ATT	p.L300I		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	300	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)														---	---	---	---
ADRB1	153	broad.mit.edu	37	10	115804281	115804281	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115804281C>A	uc001lba.2	+	1	476	c.390C>A	c.(388-390)TTC>TTA	p.F130L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	130	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)													---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116038533	116038533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116038533G>A	uc001lbl.1	+	8	1077	c.756G>A	c.(754-756)GAG>GAA	p.E252E	VWA2_uc001lbk.1_Silent_p.E252E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	252						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116046101	116046101	+	Silent	SNP	C	T	T	rs145894848		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116046101C>T	uc001lbl.1	+	11	1722	c.1401C>T	c.(1399-1401)CAC>CAT	p.H467H	VWA2_uc001lbk.1_Silent_p.H467H|VWA2_uc009xyf.1_Silent_p.H163H	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	467	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116245123	116245123	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116245123C>T	uc010qsg.1	-						ABLIM1_uc010qsh.1_Missense_Mutation_p.R293H|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Missense_Mutation_p.R287H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R37H|ABLIM1_uc009xyn.2_Intron|ABLIM1_uc010qsj.1_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116595304	116595304	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116595304G>A	uc001lcb.2	+	4	638	c.303G>A	c.(301-303)CCG>CCA	p.P101P	FAM160B1_uc001lcc.2_Silent_p.P101P	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	101										lung(1)	1																		---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116608429	116608429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116608429A>G	uc001lcb.2	+	13	2071	c.1736A>G	c.(1735-1737)GAC>GGC	p.D579G	FAM160B1_uc001lcc.2_Missense_Mutation_p.D579G	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	579										lung(1)	1																		---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117154195	117154195	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117154195A>T	uc001lcg.2	+	20	3588	c.3202A>T	c.(3202-3204)ATC>TTC	p.I1068F	ATRNL1_uc010qsm.1_Missense_Mutation_p.I197F|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1068	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118368620	118368620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118368620C>T	uc001lco.1	+	13	1414	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P466S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	466	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118380487	118380487	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118380487C>T	uc001lcq.2	+	1					PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387			pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118394418	118394418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118394418A>G	uc001lcq.2	+	11	910	c.887A>G	c.(886-888)AAC>AGC	p.N296S	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	295					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118439134	118439134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118439134C>T	uc001lct.2	-	10	1271	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R306H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	389							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118464750	118464750	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118464750G>A	uc001lct.2	-	3	271	c.166C>T	c.(166-168)CTC>TTC	p.L56F	HSPA12A_uc001lcu.2_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	56							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
KIAA1598	57698	broad.mit.edu	37	10	118719729	118719729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118719729A>G	uc009xyw.2	-	4	683	c.185T>C	c.(184-186)GTC>GCC	p.V62A	KIAA1598_uc001lcz.3_Missense_Mutation_p.V62A|KIAA1598_uc010qso.1_Missense_Mutation_p.V2A|KIAA1598_uc010qsp.1_Missense_Mutation_p.V62A|KIAA1598_uc010qsq.1_Missense_Mutation_p.V2A|KIAA1598_uc001lcy.3_Missense_Mutation_p.V32A	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	62	Potential.				axon guidance	axon					0				all cancers(201;0.00494)														---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969029	118969029	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118969029T>G	uc010qsr.1	+	3	374	c.374T>G	c.(373-375)GTC>GGC	p.V125G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)														---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119799972	119799972	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119799972T>C	uc001ldj.1	-	2	898	c.458A>G	c.(457-459)GAC>GGC	p.D153G	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.D153G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	153					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120810101	120810101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120810101C>T	uc001ldu.2	-	16	2551	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	EIF3A_uc010qsu.1_Missense_Mutation_p.R768H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	802	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120818859	120818859	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120818859A>G	uc001ldu.2	-	11	1640	c.1494T>C	c.(1492-1494)AAT>AAC	p.N498N	EIF3A_uc010qsu.1_Silent_p.N464N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	498					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121582627	121582627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121582627C>T	uc001leo.2	+	18	2243	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	INPP5F_uc001lep.2_Nonsense_Mutation_p.R83*	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	693							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)														---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123247527	123247527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123247527T>C	uc010qtk.1	-	15	2611	c.1964A>G	c.(1963-1965)GAC>GGC	p.D655G	FGFR2_uc010qtg.1_Missense_Mutation_p.D543G|FGFR2_uc010qth.1_Missense_Mutation_p.D540G|FGFR2_uc010qti.1_Missense_Mutation_p.D566G|FGFR2_uc010qtj.1_Missense_Mutation_p.D656G|FGFR2_uc010qtl.1_Missense_Mutation_p.D539G|FGFR2_uc010qtm.1_Missense_Mutation_p.D538G|FGFR2_uc001lfl.3_Missense_Mutation_p.D656G|FGFR2_uc001lfm.2_Missense_Mutation_p.D567G|FGFR2_uc001lfg.3_Missense_Mutation_p.D263G	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	655	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123810012	123810012	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123810012A>G	uc001lfv.2	+	3	453	c.93A>G	c.(91-93)ATA>ATG	p.I31M	TACC2_uc001lfw.2_Missense_Mutation_p.I31M|TACC2_uc009xzx.2_Missense_Mutation_p.I31M|TACC2_uc010qtv.1_Missense_Mutation_p.I31M	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	31						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124248520	124248520	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124248520A>G	uc001lgj.2	+							NM_002775	NP_002766			HtrA serine peptidase 1 precursor						proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124249068	124249068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124249068G>A	uc001lgj.2	+	3	831	c.703G>A	c.(703-705)GGT>AGT	p.G235S		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	235	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124345846	124345846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358514	124358514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124358514C>T	uc001lgk.1	+	26	3287	c.3181C>T	c.(3181-3183)CGC>TGC	p.R1061C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1051C|DMBT1_uc001lgm.1_Missense_Mutation_p.R562C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061C|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1061	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124377530	124377530	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124377530T>C	uc001lgk.1	+						DMBT1_uc001lgl.1_Intron|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Intron|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568			deleted in malignant brain tumors 1 isoform b						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124396722	124396722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124396722A>G	uc001lgk.1	+	51	6555	c.6449A>G	c.(6448-6450)GAC>GGC	p.D2150G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2140G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1522G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2149G|DMBT1_uc010qtx.1_Missense_Mutation_p.D870G|DMBT1_uc009yab.1_Missense_Mutation_p.D853G|DMBT1_uc009yac.1_Missense_Mutation_p.D444G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2150	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124712522	124712522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124712522T>C	uc001lgw.2	-	2	416	c.191A>G	c.(190-192)AAC>AGC	p.N64S	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	64											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)														---	---	---	---
PSTK	118672	broad.mit.edu	37	10	124742347	124742347	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124742347C>T	uc001lgy.1	+	2	755	c.315C>T	c.(313-315)AAC>AAT	p.N105N		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	105							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124753312	124753312	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124753312T>C	uc001lha.2	-	5	1543	c.1244A>G	c.(1243-1245)CAA>CGA	p.Q415R	IKZF5_uc001lgz.2_Missense_Mutation_p.Q253R	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124758027	124758027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124758027C>T	uc001lha.2	-	3	414	c.115G>A	c.(115-117)GCA>ACA	p.A39T		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124897045	124897045	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124897045A>T	uc010quc.1	+	2	872	c.872A>T	c.(871-873)GAG>GTG	p.E291V		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	291					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---
OAT	4942	broad.mit.edu	37	10	126097538	126097538	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126097538A>G	uc001lhp.2	-						OAT_uc001lhq.2_Intron|OAT_uc001lhr.2_Intron	NM_000274	NP_000265			ornithine aminotransferase precursor						cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)													---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126662901	126662901	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126662901G>A	uc001lic.2	+	5	1732	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	ZRANB1_uc010qug.1_Missense_Mutation_p.G480D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	454	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126683094	126683094	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126683094G>A	uc009yak.2	-	7	1011	c.724C>T	c.(724-726)CAC>TAC	p.H242Y	CTBP2_uc009yal.2_Missense_Mutation_p.H242Y|CTBP2_uc001lif.3_Missense_Mutation_p.H242Y|CTBP2_uc001lih.3_Missense_Mutation_p.H242Y|CTBP2_uc001lid.3_Missense_Mutation_p.H310Y|CTBP2_uc001lie.3_Missense_Mutation_p.H782Y	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	242					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126716040	126716040	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126716040C>A	uc009yak.2	-						CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron|CTBP2_uc001lie.3_Missense_Mutation_p.A97S	NM_001329	NP_001320			C-terminal binding protein 2 isoform 1						negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
C10orf137	26098	broad.mit.edu	37	10	127422661	127422661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127422661T>A	uc001liq.1	+	12	1699	c.1406T>A	c.(1405-1407)ATG>AAG	p.M469K	C10orf137_uc001lin.2_Missense_Mutation_p.M435K|C10orf137_uc001lio.1_Missense_Mutation_p.M435K|C10orf137_uc001lip.1_Missense_Mutation_p.M173K|C10orf137_uc001lir.2_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127460903	127460903	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127460903A>C	uc001liu.2	-	4	863	c.863T>G	c.(862-864)GTC>GGC	p.V288G		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	288					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127685152	127685152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127685152C>T	uc001ljh.3	+	5	536	c.432C>T	c.(430-432)GGC>GGT	p.G144G	FANK1_uc009yan.2_Silent_p.G170G|FANK1_uc001lji.2_Silent_p.G138G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	144	ANK 2.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)																---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127789653G>A	uc001ljk.2	-	9	1321	c.908C>T	c.(907-909)GCG>GTG	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.2_Missense_Mutation_p.A303V|ADAM12_uc001ljn.2_Missense_Mutation_p.A300V|ADAM12_uc001ljl.3_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	303	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128797654	128797654	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128797654A>T	uc001ljt.2	+	9	868	c.804A>T	c.(802-804)TTA>TTT	p.L268F	DOCK1_uc010qun.1_Missense_Mutation_p.L268F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	268					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128908583	128908583	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128908583T>C	uc001ljt.2	+	25	2589	c.2525T>C	c.(2524-2526)ATC>ACC	p.I842T	DOCK1_uc010qun.1_Missense_Mutation_p.I863T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	842					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128974382	128974382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2																		---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901497	129901497	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901497C>T	uc001lke.2	-	13	8802	c.8607G>A	c.(8605-8607)ACG>ACA	p.T2869T	MKI67_uc001lkf.2_Silent_p.T2509T|MKI67_uc009yav.1_Silent_p.T2444T|MKI67_uc009yaw.1_Silent_p.T2019T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2869	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901518	129901518	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901518T>C	uc001lke.2	-	13	8781	c.8586A>G	c.(8584-8586)ACA>ACG	p.T2862T	MKI67_uc001lkf.2_Silent_p.T2502T|MKI67_uc009yav.1_Silent_p.T2437T|MKI67_uc009yaw.1_Silent_p.T2012T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2862	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905845	129905845	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129905845G>C	uc001lke.2	-	13	4454	c.4259C>G	c.(4258-4260)ACA>AGA	p.T1420R	MKI67_uc001lkf.2_Missense_Mutation_p.T1060R|MKI67_uc009yav.1_Missense_Mutation_p.T995R|MKI67_uc009yaw.1_Missense_Mutation_p.T570R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1420	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129907158	129907158	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907158G>A	uc001lke.2	-	13	3141	c.2946C>T	c.(2944-2946)GGC>GGT	p.G982G	MKI67_uc001lkf.2_Silent_p.G622G|MKI67_uc009yav.1_Silent_p.G557G|MKI67_uc009yaw.1_Silent_p.G132G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	982					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131761907	131761907	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131761907G>T	uc001lki.1	-	1	185	c.126C>A	c.(124-126)GCC>GCA	p.A42A	EBF3_uc010qur.1_Silent_p.A28A	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)														---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133955535	133955535	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133955535G>A	uc001lkx.3	+	10	1585	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134017367	134017367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134017367C>T	uc009ybb.2	+	13	1717	c.1563C>T	c.(1561-1563)TCC>TCT	p.S521S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	521					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)														---	---	---	---
C10orf93	255352	broad.mit.edu	37	10	134755109	134755109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134755109A>G	uc001llt.1	-	3	368	c.292T>C	c.(292-294)TCG>CCG	p.S98P	C10orf93_uc001llu.2_Missense_Mutation_p.S98P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	98	TPR 1.						binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)														---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134898389	134898389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134898389G>A	uc001llw.2	+	8	1451	c.1451G>A	c.(1450-1452)GGG>GAG	p.G484E				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)														---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135086342	135086342	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135086342A>G	uc010qva.1	-	7	599	c.548T>C	c.(547-549)GTG>GCG	p.V183A	ADAM8_uc010quz.1_Missense_Mutation_p.V222A|ADAM8_uc009ybi.2_Missense_Mutation_p.V222A|ADAM8_uc010qvb.1_Missense_Mutation_p.V197A|ADAM8_uc009ybj.1_RNA			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	183					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135195135	135195135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135195135G>A	uc001lmv.2	+	3	920	c.840G>A	c.(838-840)GCG>GCA	p.A280A	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.A280A|PAOX_uc001lmy.2_Silent_p.A280A|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	418					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)														---	---	---	---
RIC8A	60626	broad.mit.edu	37	11	209303	209303	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:209303A>G	uc001log.2	+	2	442	c.117A>G	c.(115-117)CAA>CAG	p.Q39Q	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.Q39Q|RIC8A_uc001loh.2_Missense_Mutation_p.N3S	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	39						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293247	293247	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293247G>T	uc010qvu.1	+						ATHL1_uc001lor.3_Intron|ATHL1_uc001los.1_Intron|ATHL1_uc001lou.3_Intron|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368			ATH1, acid trehalase-like 1						carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293611	293611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293611G>A	uc010qvu.1	+	10	1613	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	ATHL1_uc001lor.3_Intron|ATHL1_uc001lou.3_Missense_Mutation_p.A75T|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	500				EFDGYEPGEVVKQA -> KFQLRVPWEDFFRC (in Ref. 3; BAB15431).	carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
IFITM1	8519	broad.mit.edu	37	11	314932	314932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:314932G>A	uc001loy.3	+	2	377	c.197G>A	c.(196-198)AGG>AAG	p.R66K		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	66	Cytoplasmic (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	582040	582040	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:582040A>G	uc001lqe.2	+	3	304	c.173A>G	c.(172-174)GAC>GGC	p.D58G	PHRF1_uc010qwc.1_Missense_Mutation_p.D58G|PHRF1_uc010qwd.1_Missense_Mutation_p.D57G|PHRF1_uc010qwe.1_Missense_Mutation_p.D54G	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	58							RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592628	592628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:592628A>G	uc001lqe.2	+	6	705	c.574A>G	c.(574-576)AGC>GGC	p.S192G	PHRF1_uc010qwc.1_Missense_Mutation_p.S192G|PHRF1_uc010qwd.1_Missense_Mutation_p.S191G|PHRF1_uc010qwe.1_Missense_Mutation_p.S188G|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	192	PHD-type.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	598394	598394	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:598394T>A	uc001lqe.2	+	9	1047	c.916T>A	c.(916-918)TCT>ACT	p.S306T	PHRF1_uc010qwc.1_Missense_Mutation_p.S306T|PHRF1_uc010qwd.1_Missense_Mutation_p.S305T|PHRF1_uc010qwe.1_Missense_Mutation_p.S302T|PHRF1_uc009ybz.1_Missense_Mutation_p.S97T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	306	Arg-rich.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	617593	617593	+	Missense_Mutation	SNP	G	C	C	rs137998609	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:617593G>C	uc001lqj.2	-	15	2401	c.2296C>G	c.(2296-2298)CGA>GGA	p.R766G	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.R572G|CDHR5_uc009ycc.2_Missense_Mutation_p.R600G|CDHR5_uc009ycd.2_Missense_Mutation_p.R760G|CDHR5_uc001lql.2_Missense_Mutation_p.R766G	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	766	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	687961	687961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:687961A>G	uc001lqq.1	-	4	1307	c.614T>C	c.(613-615)GTA>GCA	p.V205A	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	205	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)														---	---	---	---
EPS8L2	64787	broad.mit.edu	37	11	722548	722548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:722548C>T	uc001lqt.2	+	13	1454	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	EPS8L2_uc001lqu.2_Missense_Mutation_p.R403C|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419C|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358C|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	403						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	755935	755935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:755935G>A	uc001lqz.2	+	2	204	c.154G>A	c.(154-156)GCA>ACA	p.A52T	TALDO1_uc010qwl.1_Missense_Mutation_p.A52T|TALDO1_uc001lra.2_Missense_Mutation_p.A52T	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	52					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)														---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	866596	866596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:866596G>A	uc001lsd.1	+	9	892	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	TSPAN4_uc001lse.1_Missense_Mutation_p.C164Y|TSPAN4_uc001lsf.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsg.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsh.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsi.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsj.1_Missense_Mutation_p.C228Y	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	228	Cytoplasmic (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
AP2A2	161	broad.mit.edu	37	11	988613	988613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:988613G>A	uc001lss.2	+	10	1374	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	AP2A2_uc001lst.1_Missense_Mutation_p.R399H|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	398					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1027755	1027755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1027755G>A	uc001lsw.2	-	16	1962	c.1911C>T	c.(1909-1911)GGC>GGT	p.G637G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	637					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1086052	1086052	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1086052G>A	uc001lsx.1	+	22	2919	c.2892G>A	c.(2890-2892)ACG>ACA	p.T964T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093612	1093612	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1093612C>A	uc001lsx.1	+	31	12544	c.12517C>A	c.(12517-12519)CCA>ACA	p.P4173T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4173						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1155730	1155730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1155730G>A	uc009ycr.1	+	5	544	c.418G>A	c.(418-420)GTG>ATG	p.V140M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1214834	1214834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1214834G>A	uc009ycr.1	+						uc001lsz.2_RNA	NM_017511	NP_059981			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264269	1264269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1264269T>C	uc009ycr.1	+	47	8364	c.8238T>C	c.(8236-8238)ACT>ACC	p.T2746T	MUC5B_uc001ltb.2_Silent_p.T2056T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2053	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265019	1265019	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1265019G>A	uc009ycr.1	+	48	8949	c.8823G>A	c.(8821-8823)TCG>TCA	p.S2941S	MUC5B_uc001ltb.2_Silent_p.S2306S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2303	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1270634	1270634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1270634G>A	uc009ycr.1	+	51	14069	c.13943G>A	c.(13942-13944)CGT>CAT	p.R4648H	MUC5B_uc001ltb.2_Missense_Mutation_p.R4178H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4175	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 7.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273599	1273599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1273599C>T	uc009ycr.1	+	53	15982	c.15856C>T	c.(15856-15858)CGA>TGA	p.R5286*	MUC5B_uc001ltb.2_Nonsense_Mutation_p.R4967*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4964					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2154747	2154747	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2154747C>T	uc009yde.2	-	3	409	c.306G>A	c.(304-306)CCG>CCA	p.P102P	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.P102P|IGF2_uc009ydf.2_Silent_p.P158P|IGF2_uc001lvh.2_Silent_p.P102P|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)														---	---	---	---
TH	7054	broad.mit.edu	37	11	2186545	2186545	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2186545C>A	uc001lvq.2	-	13	1363	c.1344G>T	c.(1342-1344)GCG>GCT	p.A448A	TH_uc001lvp.2_Silent_p.A444A|TH_uc001lvr.2_Silent_p.A417A|TH_uc010qxj.1_Silent_p.A421A|TH_uc001lvs.2_Silent_p.A323A|TH_uc001lvt.2_Silent_p.A327A	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	448					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
TH	7054	broad.mit.edu	37	11	2189370	2189370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2189370C>T	uc001lvq.2	-	5	639	c.620G>A	c.(619-621)TGT>TAT	p.C207Y	TH_uc001lvp.2_Missense_Mutation_p.C203Y|TH_uc001lvr.2_Missense_Mutation_p.C176Y|TH_uc010qxj.1_Missense_Mutation_p.C180Y|TH_uc001lvs.2_Missense_Mutation_p.C176Y|TH_uc001lvt.2_Missense_Mutation_p.C180Y|TH_uc009ydh.1_RNA	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	207					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
CARS	833	broad.mit.edu	37	11	3048007	3048007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3048007A>G	uc001lxh.2	-	9	877	c.803T>C	c.(802-804)GTC>GCC	p.V268A	CARS_uc001lxe.2_Missense_Mutation_p.V258A|CARS_uc001lxf.2_Missense_Mutation_p.V351A|CARS_uc001lxg.2_Missense_Mutation_p.V268A|CARS_uc010qxo.1_Missense_Mutation_p.V351A|CARS_uc010qxp.1_Missense_Mutation_p.V281A|uc001lxi.1_5'Flank	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	268					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	p.V268L(1)	CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)			T	ALK	ALCL								---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3141815	3141815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3141815C>T	uc001lxk.2	-	6	600	c.442G>A	c.(442-444)GTG>ATG	p.V148M	OSBPL5_uc010qxq.1_Missense_Mutation_p.V100M|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.V172M	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	148	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)														---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249355	3249355	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3249355G>A	uc001lxq.3	-	2	982	c.672C>T	c.(670-672)CTC>CTT	p.L224L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	224	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3700923	3700923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3700923T>C	uc001lyh.2	-	31	5225	c.4934A>G	c.(4933-4935)GAG>GGG	p.E1645G	NUP98_uc001lyi.2_Missense_Mutation_p.E1571G|NUP98_uc001lyg.2_Missense_Mutation_p.E610G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1662					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3838588G>A	uc001lys.2	+	3	297	c.171G>A	c.(169-171)ACG>ACA	p.T57T	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Silent_p.T114T|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	57					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																		---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3845574	3845574	+	Missense_Mutation	SNP	C	T	T	rs144767060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3845574C>T	uc001lys.2	+	5	802	c.676C>T	c.(676-678)CGG>TGG	p.R226W	PGAP2_uc001lyl.2_Missense_Mutation_p.R183W|PGAP2_uc010qxw.1_Missense_Mutation_p.R283W|PGAP2_uc010qxx.1_Missense_Mutation_p.A206V|PGAP2_uc001lyp.3_Missense_Mutation_p.A92V|PGAP2_uc010qxy.1_Missense_Mutation_p.R222W|PGAP2_uc010qxz.1_Missense_Mutation_p.R222W|PGAP2_uc001lyn.3_Missense_Mutation_p.A118V|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R165W|PGAP2_uc010qyb.1_Missense_Mutation_p.A168V|PGAP2_uc001lyt.2_Missense_Mutation_p.R9W	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	226					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4112932	4112932	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4112932T>A	uc001lyv.2	+	12	2530	c.1962T>A	c.(1960-1962)GCT>GCA	p.A654A	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.A481A|RRM1_uc009yeh.1_5'Flank|RRM1_uc001lyw.3_5'Flank|RRM1_uc009yei.2_5'Flank|RRM1_uc010qyc.1_5'Flank	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	654	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)														---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4139675	4139675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4139675G>A	uc001lyw.3	+	8	1095	c.776G>A	c.(775-777)GGC>GAC	p.G259D	RRM1_uc009yej.2_RNA|RRM1_uc009yeh.1_Missense_Mutation_p.G162D|RRM1_uc009yei.2_Missense_Mutation_p.G219D|RRM1_uc010qyc.1_Missense_Mutation_p.G162D|RRM1_uc010qyd.1_5'UTR	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	259					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)													---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4409705T>C	uc001lyy.1	-	4	673	c.560A>G	c.(559-561)AAC>AGC	p.N187S		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	187	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4410964	4410964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4410964C>T	uc001lyy.1	-	3	537	c.424G>A	c.(424-426)GCA>ACA	p.A142T		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	142	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4511027	4511027	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4511027G>A	uc001lza.1	+	1	897	c.897G>A	c.(895-897)AAG>AAA	p.K299K		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615383	4615383	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4615383T>C	uc010qyi.1	+	1	115	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4621846	4621846	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4621846C>A	uc001lzf.1	-	7	1356	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	TRIM68_uc001lzg.1_Missense_Mutation_p.G150V|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	373	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825366	4825366	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825366G>T	uc010qym.1	-	1	482	c.482C>A	c.(481-483)CCT>CAT	p.P161H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4870066	4870066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4870066C>T	uc010qyo.1	-	1	373	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903898	4903898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4903898C>A	uc010qyp.1	+	1	850	c.850C>A	c.(850-852)CTG>ATG	p.L284M		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945098	4945098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4945098T>C	uc010qyr.1	-	1	472	c.472A>G	c.(472-474)ATC>GTC	p.I158V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967485	4967485	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4967485T>C	uc010qys.1	-	1	846	c.846A>G	c.(844-846)CTA>CTG	p.L282L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A2	401667	broad.mit.edu	37	11	4976522	4976522	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4976522A>T	uc010qyt.1	-	1	422	c.422T>A	c.(421-423)GTC>GAC	p.V141D		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5009533	5009533	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5009533T>C	uc001lzv.2	+	1	110	c.92T>C	c.(91-93)TTT>TCT	p.F31S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	31					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5013200	5013200	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5013200A>T	uc001lzv.2	+	5	620	c.602A>T	c.(601-603)AAT>ATT	p.N201I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	201					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020602	5020602	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5020602T>C	uc010qyu.1	+	1	390	c.390T>C	c.(388-390)CAT>CAC	p.H130H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142602	5142602	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5142602C>T	uc001lzz.1	-	1	207	c.207G>A	c.(205-207)ACG>ACA	p.T69T	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221892	5221892	+	Silent	SNP	A	G	G	rs145244038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5221892A>G	uc010qyz.1	-	1	39	c.39T>C	c.(37-39)CCT>CCC	p.P13P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5444364	5444364	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5444364A>G	uc010qzd.1	+	1	934	c.934A>G	c.(934-936)AAA>GAA	p.K312E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510093	5510093	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5510093G>T	uc010qzg.1	+	1	157	c.157G>T	c.(157-159)GCC>TCC	p.A53S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530154	5530154	+	Missense_Mutation	SNP	T	C	C	rs141351264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5530154T>C	uc001may.1	-	2	721	c.635A>G	c.(634-636)AAC>AGC	p.N212S	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	212										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602252	5602252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602252T>A	uc010qzi.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602389	5602389	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602389A>G	uc010qzi.1	+	1	283	c.283A>G	c.(283-285)ACC>GCC	p.T95A	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602413	5602413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602413G>A	uc010qzi.1	+	1	307	c.307G>A	c.(307-309)GCC>ACC	p.A103T	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5626558	5626558	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5626558T>C	uc001mbc.1	+						HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'UTR|TRIM6_uc009yep.1_5'Flank	NM_058166	NP_477514			tripartite motif-containing 6 isoform 2						protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)												OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5700312	5700312	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5700312A>G	uc001mbm.1	-	3	762	c.505T>C	c.(505-507)TCC>CCC	p.S169P	TRIM5_uc001mbq.1_Missense_Mutation_p.S169P|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S169P|TRIM5_uc001mbo.2_Missense_Mutation_p.S169P|TRIM5_uc001mbp.2_Missense_Mutation_p.S169P	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	169	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)														---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905954	5905954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905954T>C	uc010qzs.1	+	1	432	c.432T>C	c.(430-432)AGT>AGC	p.S144S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007329	6007329	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007329G>T	uc001mcd.2	-	1	887	c.832C>A	c.(832-834)CTC>ATC	p.L278I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	278	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048082	6048082	+	Missense_Mutation	SNP	C	T	T	rs139101039	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6048082C>T	uc010qzw.1	-	1	853	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6239971	6239971	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6239971C>T	uc001mcl.3	-	8	1653	c.1294G>A	c.(1294-1296)GTT>ATT	p.V432I	FAM160A2_uc001mck.3_Missense_Mutation_p.V432I|FAM160A2_uc001mcm.2_Missense_Mutation_p.V432I	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	432					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6292256	6292256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6292256A>G	uc001mcp.2	+	5	1020	c.827A>G	c.(826-828)AAC>AGC	p.N276S	CCKBR_uc001mcq.2_Missense_Mutation_p.N204S|CCKBR_uc001mcr.2_Missense_Mutation_p.N276S|CCKBR_uc001mcs.2_Missense_Mutation_p.N345S|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	276	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)													---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6486843	6486843	+	Missense_Mutation	SNP	C	T	T	rs146379181		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6486843C>T	uc001mdh.2	-	3	470	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	TRIM3_uc001mdi.2_Missense_Mutation_p.R28Q|TRIM3_uc010raj.1_Intron|TRIM3_uc009yfd.2_Missense_Mutation_p.R28Q|TRIM3_uc010rak.1_Missense_Mutation_p.R28Q|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	28	RING-type.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TPP1	1200	broad.mit.edu	37	11	6638383	6638383	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6638383C>T	uc001mel.1	-	6	571	c.510G>A	c.(508-510)GTG>GTA	p.V170V	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	170					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)														---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661560	6661560	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6661560G>A	uc001mem.1	-	2	1695	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	429	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6806618	6806618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6806618T>C	uc001mer.1	+	1	350	c.350T>C	c.(349-351)TTC>TCC	p.F117S		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891104	6891104	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6891104C>A	uc001meu.1	+	1	119	c.119C>A	c.(118-120)CCC>CAC	p.P40H		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	40	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021635	7021635	+	Missense_Mutation	SNP	A	T	T	rs113759066		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7021635A>T	uc001mfa.2	-	3	1582	c.1279T>A	c.(1279-1281)TCA>ACA	p.S427T	ZNF214_uc010ray.1_Missense_Mutation_p.S427T|ZNF214_uc009yfh.1_Missense_Mutation_p.S427T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	427	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)														---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7081168	7081168	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7081168T>A	uc001mfb.1	+	9	3000	c.2677T>A	c.(2677-2679)TCA>ACA	p.S893T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	893	LRR 6.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7439228	7439228	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7439228A>T	uc001mfe.2	+	5	1443	c.1206A>T	c.(1204-1206)CGA>CGT	p.R402R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	402	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7631603	7631603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7631603G>A	uc001mfj.3	+	6	956	c.568G>A	c.(568-570)GGC>AGC	p.G190S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.G113S|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.G113S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.G32S|PPFIBP2_uc010rbe.1_Missense_Mutation_p.G78S|PPFIBP2_uc001mfl.3_Missense_Mutation_p.G47S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	190	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7672093	7672093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7672093T>C	uc001mfj.3	+	22	2532	c.2144T>C	c.(2143-2145)GTT>GCT	p.V715A	PPFIBP2_uc010rbb.1_Missense_Mutation_p.V638A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.V649A|PPFIBP2_uc010rbe.1_Missense_Mutation_p.V603A|PPFIBP2_uc001mfl.3_Missense_Mutation_p.V572A|PPFIBP2_uc009yfj.1_Missense_Mutation_p.V359A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	715					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7686758	7686758	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7686758G>T	uc001mfm.2	-	9	916	c.678C>A	c.(676-678)GGC>GGA	p.G226G	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.G226G	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	226					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)												OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7693999	7693999	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7693999G>A	uc001mfm.2	-	2	296	c.58C>T	c.(58-60)CTG>TTG	p.L20L	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.L20L|CYB5R2_uc009yfl.1_Silent_p.L20L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	20	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817752	7817752	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7817752C>T	uc001mfp.1	-	1	738	c.738G>A	c.(736-738)CTG>CTA	p.L246L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P3	120066	broad.mit.edu	37	11	7846735	7846735	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7846735G>T	uc010rbg.1	-	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161632	8161632	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8161632T>C	uc001mgd.2	-	2	287	c.233A>G	c.(232-234)AAG>AGG	p.K78R	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78R|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28R|RIC3_uc010rbm.1_Missense_Mutation_p.K78R|RIC3_uc009yfm.2_Missense_Mutation_p.K78R|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78R	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
LMO1	4004	broad.mit.edu	37	11	8251944	8251944	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8251944G>A	uc001mgg.1	-	2	630	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.H44Y	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	45	LIM zinc-binding 1.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)				T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							---	---	---	---
RPL27A	6157	broad.mit.edu	37	11	8706989	8706989	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8706989G>A	uc001mgs.3	+						SNORA45_uc001mgr.1_RNA	NM_000990	NP_000981			ribosomal protein L27a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
C11orf17	56672	broad.mit.edu	37	11	8940962	8940962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8940962A>G	uc001mgx.2	+	6	644	c.568A>G	c.(568-570)ACC>GCC	p.T190A	C11orf17_uc001mgz.2_Missense_Mutation_p.T163A|C11orf17_uc001mgy.2_Missense_Mutation_p.T163A|C11orf17_uc001mha.2_Missense_Mutation_p.T190A	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	chromosome 11 open reading frame 17	190						nucleus	protein binding				0				Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9077338	9077338	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9077338A>G	uc001mhh.1	-	10	1287	c.1207_splice	c.e10+1	p.D403_splice	SCUBE2_uc001mhi.1_Splice_Site_p.D403_splice|SCUBE2_uc001mhj.1_Splice_Site_p.D403_splice	NM_020974	NP_066025			CEGP1 protein precursor							extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9879811	9879811	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9879811C>A	uc001mib.2	-	18	2200	c.2062G>T	c.(2062-2064)GCC>TCC	p.A688S	SBF2_uc001mif.3_Missense_Mutation_p.A444S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	688					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9989942	9989942	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9989942G>C	uc001mib.2	-	14	1684	c.1546C>G	c.(1546-1548)CCT>GCT	p.P516A	SBF2_uc001mif.3_Missense_Mutation_p.P272A|SBF2_uc001mih.3_Missense_Mutation_p.P45A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	516					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
LYVE1	10894	broad.mit.edu	37	11	10585563	10585563	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10585563C>T	uc001miv.2	-	3	607	c.321G>A	c.(319-321)GGG>GGA	p.G107G	uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	107	Link.|Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)														---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10823150	10823150	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10823150G>A	uc001mjc.2	-						EIF4G2_uc001mjb.2_Intron|EIF4G2_uc009ygf.2_Intron|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.2_RNA	NM_001418	NP_001409			eukaryotic translation initiation factor 4						cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
USP47	55031	broad.mit.edu	37	11	11944340	11944340	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:11944340A>T	uc001mjq.1	+	12	2111	c.1348A>T	c.(1348-1350)ATG>TTG	p.M450L	USP47_uc001mjr.2_Missense_Mutation_p.M362L|USP47_uc001mjs.2_Missense_Mutation_p.M430L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	450					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12315220	12315220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12315220A>G	uc001mkg.1	+	3	533	c.242A>G	c.(241-243)TAT>TGT	p.Y81C		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316135	12316135	+	Missense_Mutation	SNP	C	T	T	rs112851920		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12316135C>T	uc001mkg.1	+	3	1448	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	386					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13388247	13388247	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13388247G>A	uc001mkr.2	+	11	996	c.588G>A	c.(586-588)CTG>CTA	p.L196L	ARNTL_uc001mko.2_Silent_p.L153L|ARNTL_uc001mkp.2_Silent_p.L196L|ARNTL_uc001mkq.2_Silent_p.L196L|ARNTL_uc001mks.2_Silent_p.L153L|ARNTL_uc001mkt.2_Silent_p.L196L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.L153L|ARNTL_uc001mkv.1_Silent_p.L153L|ARNTL_uc001mkw.2_Silent_p.L153L|ARNTL_uc001mkx.2_Silent_p.L194L	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	196	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)														---	---	---	---
FAR1	84188	broad.mit.edu	37	11	13729544	13729544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13729544T>C	uc001mld.2	+	4	618	c.463T>C	c.(463-465)TAT>CAT	p.Y155H	FAR1_uc009ygp.2_Missense_Mutation_p.Y155H	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	155					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14502603	14502603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14502603T>C	uc001mli.2	-	9	1305	c.998A>G	c.(997-999)GAC>GGC	p.D333G	COPB1_uc001mlg.2_Missense_Mutation_p.D333G|COPB1_uc001mlh.2_Missense_Mutation_p.D333G	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	333	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14508019	14508019	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14508019C>T	uc001mli.2	-	7	1038	c.731G>A	c.(730-732)CGT>CAT	p.R244H	COPB1_uc001mlg.2_Missense_Mutation_p.R244H|COPB1_uc001mlh.2_Missense_Mutation_p.R244H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	244	HEAT 3.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808106	14808106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14808106A>G	uc001mln.2	+	3	1506	c.1153A>G	c.(1153-1155)AGC>GGC	p.S385G	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	385					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14856574	14856574	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14856574T>A	uc001mln.2	+	11	2606	c.2253T>A	c.(2251-2253)TAT>TAA	p.Y751*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.Y700*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	751	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	15994527	15994527	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:15994527C>A	uc001mme.2	-	16	2387	c.2354G>T	c.(2353-2355)AGC>ATC	p.S785I	SOX6_uc001mmd.2_Missense_Mutation_p.S748I|SOX6_uc001mmf.2_Missense_Mutation_p.S745I|SOX6_uc001mmg.2_Missense_Mutation_p.S752I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	772					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16068172	16068172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16068172C>T	uc001mme.2	-	12	1583	c.1550G>A	c.(1549-1551)CGG>CAG	p.R517Q	SOX6_uc001mmd.2_Missense_Mutation_p.R480Q|SOX6_uc001mmf.2_Missense_Mutation_p.R477Q|SOX6_uc001mmg.2_Missense_Mutation_p.R504Q	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	504					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17141478	17141478	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17141478A>G	uc001mmq.3	-	15	2767	c.2701T>C	c.(2701-2703)TAT>CAT	p.Y901H	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Y521H|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	901					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17156512	17156512	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17156512A>C	uc001mmq.3	-	10	2028	c.1962T>G	c.(1960-1962)GAT>GAG	p.D654E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D274E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D654E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	654					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17452414	17452414	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17452414T>C	uc001mnc.2	-	12	1890	c.1764A>G	c.(1762-1764)ACA>ACG	p.T588T	ABCC8_uc010rcy.1_Silent_p.T587T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	588	Helical; Name=11; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17483378	17483378	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17483378G>T	uc001mnc.2	-						ABCC8_uc010rcy.1_Intron	NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17548843	17548843	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17548843G>T	uc001mnf.2	-	5	532	c.423C>A	c.(421-423)TCC>TCA	p.S141S	USH1C_uc001mne.2_Silent_p.S141S|USH1C_uc009yhb.2_Silent_p.S141S|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.S105S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	141	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741356	17741356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17741356C>T	uc001mni.2	+	1	247	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17757940	17757940	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17757940G>A	uc001mnk.3	+	1	446	c.391G>A	c.(391-393)GCC>ACC	p.A131T	KCNC1_uc009yhc.1_Missense_Mutation_p.A131T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	131	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793578	17793578	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17793578G>A	uc001mnk.3	+	2	992	c.937G>A	c.(937-939)GTC>ATC	p.V313I	KCNC1_uc009yhc.1_Missense_Mutation_p.V313I	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	313	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18633968	18633968	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18633968A>G	uc001moy.2	-	4	1995	c.1779T>C	c.(1777-1779)GAT>GAC	p.D593D	SPTY2D1_uc010rdi.1_Silent_p.D593D	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	593	Poly-Asp.									breast(1)	1																		---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18743101	18743101	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18743101T>C	uc009yht.2	-	4	549	c.359A>G	c.(358-360)AAC>AGC	p.N120S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	120	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7																OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19259413	19259413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19259413T>G	uc001mpm.2	-	3	804	c.282A>C	c.(280-282)AAA>AAC	p.K94N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.K94N|E2F8_uc001mpo.1_Missense_Mutation_p.K94N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	94					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19261660	19261660	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19261660G>A	uc001mpm.2	-	2	531	c.9C>T	c.(7-9)AAC>AAT	p.N3N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N3N|E2F8_uc001mpo.1_Silent_p.N3N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	3					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20065572	20065572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20065572T>C	uc010rdm.1	+	14	3383	c.3022T>C	c.(3022-3024)TCT>CCT	p.S1008P	NAV2_uc001mpp.2_Missense_Mutation_p.S921P|NAV2_uc001mpr.3_Missense_Mutation_p.S985P|NAV2_uc001mpt.2_Missense_Mutation_p.S71P|NAV2_uc009yhx.2_Missense_Mutation_p.S71P|NAV2_uc009yhy.1_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1008						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070671	20070671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20070671G>A	uc010rdm.1	+	16	4730	c.4369G>A	c.(4369-4371)GCC>ACC	p.A1457T	NAV2_uc001mpp.2_Missense_Mutation_p.A1370T|NAV2_uc001mpr.3_Missense_Mutation_p.A1434T|NAV2_uc001mpt.2_Missense_Mutation_p.A520T|NAV2_uc009yhx.2_Missense_Mutation_p.A520T|NAV2_uc009yhy.1_Missense_Mutation_p.A433T|NAV2_uc009yhz.2_Missense_Mutation_p.A116T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1457	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20122624	20122624	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20122624C>G	uc001mpr.3	+	32	6693	c.6332C>G	c.(6331-6333)GCC>GGC	p.A2111G	NAV2_uc001mpp.2_Missense_Mutation_p.A2044G|NAV2_uc009yhx.2_Missense_Mutation_p.A1172G|NAV2_uc009yhz.2_Missense_Mutation_p.A753G|NAV2_uc001mpu.2_Missense_Mutation_p.A546G	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2167						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668428	20668428	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20668428C>A	uc001mqd.2	+	14	2291	c.2018C>A	c.(2017-2019)CCT>CAT	p.P673H	SLC6A5_uc009yic.2_Missense_Mutation_p.P438H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	673					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)													---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22225353	22225353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22225353A>G	uc001mqi.2	+	2	361	c.44A>G	c.(43-45)GAA>GGA	p.E15G	ANO5_uc001mqj.2_Missense_Mutation_p.E15G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	15	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22363222	22363222	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22363222C>A	uc001mqk.2	+	2	648	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	79	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4																		---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844655	22844655	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844655A>G	uc001mqp.3	-	4						NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26714070	26714070	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26714070G>A	uc001mra.2	-	9	1432	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.S373S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	373	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2																		---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27148839	27148839	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27148839G>T	uc001mre.1	+	9	1372	c.1004_splice	c.e9-1	p.G335_splice	BBOX1_uc009yih.1_Splice_Site_p.G335_splice|BBOX1_uc001mrg.1_Splice_Site_p.G335_splice	NM_003986	NP_003977			gamma-butyrobetaine dioxygenase						carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27395180	27395180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27395180G>T	uc001mrj.3	-	15	1782	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	LGR4_uc001mrk.3_Missense_Mutation_p.L409M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	433	LRR 15.|Extracellular (Potential).			L -> P (in Ref. 1; AAF68989).		integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1																		---	---	---	---
C11orf46	120534	broad.mit.edu	37	11	30358350	30358350	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30358350T>C	uc001mso.1	+	4					C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529			hypothetical protein LOC120534												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	30937073	30937073	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30937073T>A	uc001mss.1	-	5		c.741A>T			uc009yjk.1_Missense_Mutation_p.H661L					Homo sapiens mRNA for KIAA1493 protein, partial cds.																														---	---	---	---
WIT1	51352	broad.mit.edu	37	11	32460534	32460534	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32460534C>A	uc010rec.1	+	2		c.1252C>A			WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron	NR_023920				full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).												0	Breast(20;0.247)																	---	---	---	---
EIF3M	10480	broad.mit.edu	37	11	32610169	32610169	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32610169T>A	uc001mtu.2	+	3	248	c.205T>A	c.(205-207)TCC>ACC	p.S69T	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	69						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)																	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32954606	32954606	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32954606C>A	uc001mty.2	+	4	1682	c.1415C>A	c.(1414-1416)TCT>TAT	p.S472Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	472	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33370372	33370372	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33370372C>T	uc001mul.1	+						HIPK3_uc001mum.1_Intron|HIPK3_uc009yjv.1_Intron	NM_005734	NP_005725			homeodomain interacting protein kinase 3 isoform						anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33566723	33566723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33566723A>G	uc001mup.3	+	2	2435	c.2311A>G	c.(2311-2313)AGA>GGA	p.R771G	C11orf41_uc001mun.1_Missense_Mutation_p.R771G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	765						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33581342	33581342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33581342C>T	uc001mup.3	+	6	3154	c.3030C>T	c.(3028-3030)GTC>GTT	p.V1010V	C11orf41_uc001mun.1_Silent_p.V1010V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1004						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33628237	33628237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33628237A>G	uc001mup.3	+	13	4181	c.4057A>G	c.(4057-4059)AAG>GAG	p.K1353E		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1347						integral to membrane				ovary(2)	2																		---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34144031	34144031	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34144031A>T	uc001mvk.2	+	9	1050	c.806A>T	c.(805-807)GAG>GTG	p.E269V	NAT10_uc010ren.1_Missense_Mutation_p.E197V	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	269						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)																---	---	---	---
CAT	847	broad.mit.edu	37	11	34472556	34472556	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34472556T>A	uc001mvm.2	+	3	343	c.260T>A	c.(259-261)GTC>GAC	p.V87D	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	87					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
APIP	51074	broad.mit.edu	37	11	34905014	34905014	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34905014T>C	uc001mvs.2	-	6	607	c.499A>G	c.(499-501)ACA>GCA	p.T167A	APIP_uc010reo.1_Missense_Mutation_p.T184A	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	167					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity				0	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)															---	---	---	---
CD44	960	broad.mit.edu	37	11	35198138	35198138	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35198138C>T	uc001mvu.2	+	2	518	c.84C>T	c.(82-84)TGC>TGT	p.C28C	CD44_uc001mvv.2_Silent_p.C28C|CD44_uc001mvw.2_Silent_p.C28C|CD44_uc001mvx.2_Silent_p.C28C|CD44_uc001mvy.2_Silent_p.C28C|CD44_uc001mwc.3_Silent_p.C28C|CD44_uc010rer.1_Silent_p.C28C|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	28	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35456166	35456166	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35456166G>A	uc001mwg.2	-	10	1563	c.1520C>T	c.(1519-1521)ACT>ATT	p.T507I	PAMR1_uc001mwf.2_Missense_Mutation_p.T524I|PAMR1_uc010rew.1_Missense_Mutation_p.T396I|PAMR1_uc010rex.1_Missense_Mutation_p.T467I	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	507	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513631	35513631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35513631G>A	uc001mwg.2	-	3	384	c.341C>T	c.(340-342)GCA>GTA	p.A114V	PAMR1_uc001mwf.2_Missense_Mutation_p.A114V|PAMR1_uc010rew.1_Missense_Mutation_p.A114V|PAMR1_uc010rex.1_Missense_Mutation_p.A74V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	114					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TRIM44	54765	broad.mit.edu	37	11	35747662	35747662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35747662C>T	uc001mwi.2	+	3	1245	c.938C>T	c.(937-939)GCC>GTC	p.A313V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	313	Potential.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)																---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36516539	36516539	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36516539A>G	uc001mwr.1	-	6	1005	c.665T>C	c.(664-666)CTC>CCC	p.L222P	TRAF6_uc001mws.1_Missense_Mutation_p.L222P	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	222	Interaction with TAX1BP1.|TRAF-type 2.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)																---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597940	36597940	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36597940T>C	uc001mwu.3	+	2	3210	c.3086T>C	c.(3085-3087)TTA>TCA	p.L1029S	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1029					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43413401	43413401	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43413401C>T	uc001mxi.2	+	5	576	c.562C>T	c.(562-564)CCT>TCT	p.P188S	TTC17_uc001mxh.2_Missense_Mutation_p.P188S|TTC17_uc010rfj.1_Missense_Mutation_p.P131S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	188							binding			ovary(5)	5																		---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43918844	43918844	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43918844T>A	uc001mxs.2	+						ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Intron|LOC729799_uc010rfk.1_5'Flank	NM_139178	NP_631917			AlkB homolog 3						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)								Direct_reversal_of_damage					---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44097068	44097068	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44097068G>A	uc009yks.1	+						EXT2_uc010rfo.1_5'Flank|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Intron|ACCS_uc001mxx.2_Intron	NM_001127219	NP_001120691			1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44104792	44104792	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44104792G>T	uc009yks.1	+	13	1329	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.E395D	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	395							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44129625	44129625	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44129625T>C	uc001mxz.2	+	2	697	c.363T>C	c.(361-363)TCT>TCC	p.S121S	EXT2_uc010rfo.1_Silent_p.S149S|EXT2_uc001mxy.2_Silent_p.S134S|EXT2_uc009ykt.2_Silent_p.S121S|EXT2_uc001mya.2_Silent_p.S154S	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	121	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5								Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45246062C>T	uc001myo.2	+	8	1388	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										upper_aerodigestive_tract(1)	1																		---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265608	45265608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45265608G>T	uc001myq.2	-	6	1402	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M	SYT13_uc009yku.1_Missense_Mutation_p.L282M	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	426	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671505	45671505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671505C>T	uc001mys.1	-	4	1640	c.969G>A	c.(967-969)CCG>CCA	p.P323P		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	323	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)														---	---	---	---
PEX16	9409	broad.mit.edu	37	11	45935936	45935936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45935936T>C	uc001nbu.2	-	7	937	c.625A>G	c.(625-627)ACC>GCC	p.T209A	PEX16_uc001nbt.2_Missense_Mutation_p.T209A	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	209	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)														---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45948298	45948298	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45948298C>A	uc001nbv.1	+	10	1312	c.1201C>A	c.(1201-1203)CCC>ACC	p.P401T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P370T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P401T|GYLTL1B_uc001nby.1_Missense_Mutation_p.P84T|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	401	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46105778	46105778	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46105778C>T	uc001ncc.3	-	3					PHF21A_uc001ncb.3_5'UTR|PHF21A_uc009ykx.2_5'UTR|PHF21A_uc001nce.2_5'UTR	NM_001101802	NP_001095272			BRAF35/HDAC2 complex isoform a						blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46801732	46801732	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46801732T>C	uc001ndi.1	-						CKAP5_uc009ylg.1_Intron|CKAP5_uc001ndj.1_Intron	NM_001008938	NP_001008938			colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296132	47296132	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47296132C>T	uc001ner.1	+	3	272	c.81C>T	c.(79-81)AGC>AGT	p.S27S	MADD_uc001neq.2_Silent_p.S27S|MADD_uc001nev.1_Silent_p.S27S|MADD_uc001nes.1_Silent_p.S27S|MADD_uc001net.1_Silent_p.S27S|MADD_uc009yln.1_Silent_p.S27S|MADD_uc001neu.1_Silent_p.S27S|MADD_uc001nex.2_Silent_p.S27S|MADD_uc001nez.2_Silent_p.S27S|MADD_uc001new.2_Silent_p.S27S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	27	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47371349	47371349	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47371349G>A	uc001nfa.3	-	5	685	c.630C>T	c.(628-630)CAC>CAT	p.H210H		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	210	Ig-like C2-type 1.	Zinc.			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)														---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47444219	47444219	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47444219C>A	uc001nfh.2	-	8	984	c.790G>T	c.(790-792)GGT>TGT	p.G264C	PSMC3_uc009ylr.1_Missense_Mutation_p.G222C	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47464237	47464237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47464237G>A	uc001nfi.1	-	3	875	c.661C>T	c.(661-663)CGC>TGC	p.R221C	RAPSN_uc001nfj.1_Missense_Mutation_p.R221C|RAPSN_uc009yls.1_Missense_Mutation_p.R221C	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	221	TPR 5.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47504275	47504275	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47504275A>C	uc001nfl.2	-	6	669	c.659T>G	c.(658-660)CTA>CGA	p.L220R	CELF1_uc001nfm.2_Missense_Mutation_p.L220R|CELF1_uc001nfn.2_Missense_Mutation_p.L220R|CELF1_uc001nfo.1_Missense_Mutation_p.L246R|CELF1_uc010rhm.1_Missense_Mutation_p.L219R|CELF1_uc001nfp.2_Missense_Mutation_p.L247R|CELF1_uc001nfq.1_Missense_Mutation_p.L220R|CELF1_uc001nfr.1_Missense_Mutation_p.L220R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	220					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47648651	47648651	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47648651T>C	uc010rho.1	-	10	851	c.662A>G	c.(661-663)TAT>TGT	p.Y221C	MTCH2_uc001nge.2_Missense_Mutation_p.Y94C|MTCH2_uc010rhp.1_Missense_Mutation_p.Y73C	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	221					transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47650523	47650523	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47650523G>T	uc010rho.1	-	9	804	c.615C>A	c.(613-615)ACC>ACA	p.T205T	MTCH2_uc001nge.2_Silent_p.T78T|MTCH2_uc010rhp.1_Silent_p.T57T	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	205	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47736193	47736193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47736193C>A	uc001ngg.2	-	1	110	c.10G>T	c.(10-12)GCT>TCT	p.A4S	AGBL2_uc010rhq.1_Missense_Mutation_p.A4S|AGBL2_uc001ngh.1_Missense_Mutation_p.A4S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	4					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744588	47744588	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47744588T>A	uc009ylv.2	-	15	2898	c.2745A>T	c.(2743-2745)CCA>CCT	p.P915P	FNBP4_uc001ngi.2_Silent_p.P229P|FNBP4_uc001ngj.2_Silent_p.P822P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	915	Pro-rich.									ovary(1)	1																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754182	47754182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754182T>C	uc009ylv.2	-	11	1880	c.1727A>G	c.(1726-1728)AAC>AGC	p.N576S	FNBP4_uc001ngj.2_Missense_Mutation_p.N483S|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	576										ovary(1)	1																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754208	47754208	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754208G>A	uc009ylv.2	-	11	1854	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	FNBP4_uc001ngj.2_Silent_p.D474D|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	567										ovary(1)	1																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48131619	48131619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48131619G>A	uc001ngp.3	+	2	461	c.106G>A	c.(106-108)GCA>ACA	p.A36T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A36T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	36	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																OREG0020960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48166633	48166633	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48166633C>T	uc001ngp.3	+	14	3223	c.2868C>T	c.(2866-2868)TCC>TCT	p.S956S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	956	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48185166	48185166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48185166T>C	uc001ngp.3	+	23	4070	c.3715T>C	c.(3715-3717)TGC>CGC	p.C1239R		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1239	Tyrosine-protein phosphatase.|Substrate binding (By similarity).|Cytoplasmic (Potential).	Phosphocysteine intermediate (By similarity).		C->S: Catalytically inactive and substrate trapping with higher affinity for substrate.	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328111	48328111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48328111C>T	uc010rhu.1	+	1	337	c.337C>T	c.(337-339)CTT>TTT	p.L113F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346544	48346544	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346544G>A	uc010rhv.1	+	1	52	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168405	49168405	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49168405A>G	uc001ngy.2	-	19	2417	c.2156T>C	c.(2155-2157)GTG>GCG	p.V719A	FOLH1_uc001ngx.2_Missense_Mutation_p.W119R|FOLH1_uc001ngz.2_Missense_Mutation_p.V688A|FOLH1_uc009yly.2_Missense_Mutation_p.V704A|FOLH1_uc009ylz.2_Missense_Mutation_p.V673A|FOLH1_uc009yma.2_Missense_Mutation_p.V411A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	719	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)													---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974337	49974337	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49974337T>C	uc010rhz.1	+	1	363	c.363T>C	c.(361-363)TAT>TAC	p.Y121Y		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412149	51412149	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412149A>C	uc001nhi.1	-	1	247	c.247T>G	c.(247-249)TTA>GTA	p.L83V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412388	51412388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412388T>C	uc001nhi.1	-	1	8	c.8A>G	c.(7-9)CAG>CGG	p.Q3R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035855	55035855	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035855A>G	uc010rid.1	+							NM_024114	NP_077019			tripartite motif-containing 48							intracellular	zinc ion binding				0																		---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339641	55339641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55339641T>A	uc010rih.1	+	1	38	c.38T>A	c.(37-39)CTT>CAT	p.L13H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432731	55432731	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55432731T>G	uc001nht.3	+	3	354	c.89T>G	c.(88-90)CTT>CGT	p.L30R	OR4C6_uc010rik.1_Missense_Mutation_p.L30R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541190	55541190	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541190A>G	uc010ril.1	+	1	277	c.277A>G	c.(277-279)ACC>GCC	p.T93A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563075	55563075	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563075C>T	uc010rim.1	+	1	44	c.44C>T	c.(43-45)GCC>GTC	p.A15V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563329	55563329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563329A>G	uc010rim.1	+	1	298	c.298A>G	c.(298-300)ATG>GTG	p.M100V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579700	55579700	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579700G>T	uc001nhw.1	+	1	758	c.758G>T	c.(757-759)GGA>GTA	p.G253V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579727	55579727	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579727C>A	uc001nhw.1	+	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579836	55579836	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579836A>T	uc001nhw.1	+	1	894	c.894A>T	c.(892-894)AAA>AAT	p.K298N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587251	55587251	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587251T>A	uc010rin.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55682066	55682066	+	5'Flank	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55682066T>G	uc010rir.1	-							NM_001001960	NP_001001960			olfactory receptor, family 5, subfamily W,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703185C>T	uc010ris.1	-	1	692	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703617	55703617	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703617A>G	uc010ris.1	-	1	260	c.260T>C	c.(259-261)TTC>TCC	p.F87S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761391	55761391	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761391A>C	uc010riv.1	-	1	711	c.711T>G	c.(709-711)GCT>GCG	p.A237A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798599	55798599	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798599C>G	uc010riw.1	+	1	705	c.705C>G	c.(703-705)AGC>AGG	p.S235R		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890557	55890557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890557G>A	uc001nii.1	+	1	709	c.709G>A	c.(709-711)GCT>ACT	p.A237T		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057653	56057653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56057653C>T	uc010rje.1	-	1	886	c.886G>A	c.(886-888)GTT>ATT	p.V296I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56085879	56085879	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56085879A>G	uc010rjf.1	+	1	97	c.97A>G	c.(97-99)ATG>GTG	p.M33V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409175	56409175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409175A>G	uc001njb.1	-	1	741	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
OR9G9	504191	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56467959C>T	uc010rjn.1	+	1	96	c.96C>T	c.(94-96)GGC>GGT	p.G32G		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510828	56510828	+	Missense_Mutation	SNP	C	T	T	rs139616824		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56510828C>T	uc010rjo.1	-	1	460	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949930	56949930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949930G>A	uc001njl.1	+	1	710	c.563G>A	c.(562-564)AGC>AAC	p.S188N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	158	LRR 4.					integral to membrane					0																		---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003818	57003818	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57003818A>G	uc001njo.2	-	1	1110	c.661T>C	c.(661-663)TAC>CAC	p.Y221H	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	221	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6																		---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57068388	57068388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57068388G>A	uc001njr.2	-	9	5411	c.5099C>T	c.(5098-5100)ACG>ATG	p.T1700M	TNKS1BP1_uc001njp.2_Missense_Mutation_p.T272M|TNKS1BP1_uc001njq.2_Missense_Mutation_p.T273M|TNKS1BP1_uc001njs.2_Missense_Mutation_p.T1700M	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1700	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57076651	57076651	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57076651A>G	uc001njr.2	-	5	3846	c.3534T>C	c.(3532-3534)TCT>TCC	p.S1178S	TNKS1BP1_uc001njs.2_Silent_p.S1178S|TNKS1BP1_uc009ymd.1_Silent_p.S629S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1178	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57440666	57440666	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57440666C>T	uc001nkx.1	+	2	1360	c.104C>T	c.(103-105)ACG>ATG	p.T35M	ZDHHC5_uc001nky.1_Intron	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	35						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57575947	57575947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57575947T>C	uc001nmc.3	+	14	2748	c.2177T>C	c.(2176-2178)GTG>GCG	p.V726A	CTNND1_uc001nlh.1_Missense_Mutation_p.V726A|CTNND1_uc001nlu.3_Missense_Mutation_p.V619A|CTNND1_uc001nlt.3_Missense_Mutation_p.V619A|CTNND1_uc001nls.3_Missense_Mutation_p.V619A|CTNND1_uc001nlw.3_Missense_Mutation_p.V619A|CTNND1_uc001nmf.3_Missense_Mutation_p.V726A|CTNND1_uc001nmd.3_Missense_Mutation_p.V672A|CTNND1_uc001nlk.3_Missense_Mutation_p.V672A|CTNND1_uc001nme.3_Missense_Mutation_p.V720A|CTNND1_uc001nll.3_Missense_Mutation_p.V666A|CTNND1_uc001nmg.3_Missense_Mutation_p.V666A|CTNND1_uc001nlj.3_Missense_Mutation_p.V666A|CTNND1_uc001nlr.3_Missense_Mutation_p.V666A|CTNND1_uc001nlp.3_Missense_Mutation_p.V666A|CTNND1_uc001nlx.3_Missense_Mutation_p.V403A|CTNND1_uc001nlz.3_Missense_Mutation_p.V403A|CTNND1_uc009ymn.2_Missense_Mutation_p.V397A|CTNND1_uc001nlm.3_Missense_Mutation_p.V720A|CTNND1_uc001nly.3_Missense_Mutation_p.V397A|CTNND1_uc001nmb.3_Missense_Mutation_p.V397A|CTNND1_uc001nma.3_Missense_Mutation_p.V397A|CTNND1_uc001nmi.3_Missense_Mutation_p.V625A|CTNND1_uc001nmh.3_Missense_Mutation_p.V720A|CTNND1_uc001nlq.3_Missense_Mutation_p.V625A|CTNND1_uc001nln.3_Missense_Mutation_p.V720A|CTNND1_uc001nli.3_Missense_Mutation_p.V720A|CTNND1_uc001nlo.3_Missense_Mutation_p.V619A|CTNND1_uc001nlv.3_Missense_Mutation_p.V619A	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	726	ARM 8.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971193	57971193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57971193C>T	uc010rkb.1	-	1	461	c.461G>A	c.(460-462)GGC>GAC	p.G154D		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)																---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982629	57982629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57982629C>T	uc010rkc.1	+	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)																---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57996067	57996067	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57996067T>C	uc010rkd.1	-	1	281	c.281A>G	c.(280-282)AAG>AGG	p.K94R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)																---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190409	58190409	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58190409T>C	uc010rkg.1	-	1	326	c.326A>G	c.(325-327)GAA>GGA	p.E109G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207236	58207236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58207236T>C	uc010rkh.1	-	1	389	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275329	58275329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58275329G>A	uc010rki.1	-	1	250	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
GLYAT	10249	broad.mit.edu	37	11	58478068	58478068	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58478068C>A	uc001nnb.2	-	5	638	c.483G>T	c.(481-483)AAG>AAT	p.K161N	GLYAT_uc001nnc.2_Missense_Mutation_p.K161N	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	161					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)													---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58949402	58949402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58949402A>G	uc001nns.2	+	2	659	c.402A>G	c.(400-402)GTA>GTG	p.V134V	DTX4_uc001nnr.2_Silent_p.V28V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58978613A>G	uc001nnu.3	-	1	1882	c.1726T>C	c.(1726-1728)TAT>CAT	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	576	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979219	58979219	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58979219T>C	uc001nnu.3	-	1	1276	c.1120A>G	c.(1120-1122)ACC>GCC	p.T374A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	374	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271510	59271510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59271510C>T	uc001noa.1	+	1	462	c.462C>T	c.(460-462)GTC>GTT	p.V154V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
PLAC1L	219990	broad.mit.edu	37	11	59814517	59814517	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59814517T>C	uc001nol.2	+	4	633	c.448T>C	c.(448-450)TTA>CTA	p.L150L		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	150						extracellular region				ovary(2)|skin(1)	3																		---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828798	59828798	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59828798G>A	uc001nom.2	+						MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129			membrane-spanning 4-domains, subfamily A, member							endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)																---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183917	60183917	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60183917C>A	uc001npj.2	+	5	2041	c.1476C>A	c.(1474-1476)ACC>ACA	p.T492T	MS4A14_uc001npi.2_Silent_p.T380T|MS4A14_uc001npn.2_Silent_p.T230T|MS4A14_uc001npk.2_Silent_p.T475T|MS4A14_uc001npl.2_Silent_p.T230T|MS4A14_uc001npm.2_Silent_p.T230T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	492	Gln-rich.					integral to membrane	receptor activity			breast(1)	1																		---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60264792	60264792	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60264792A>C	uc001npr.2	+	2	58	c.1A>C	c.(1-3)ATG>CTG	p.M1L	MS4A12_uc009ynb.2_Missense_Mutation_p.M1L	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60285576	60285576	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60285576T>C	uc001nps.2	+	3	343	c.20T>C	c.(19-21)ATT>ACT	p.I7T	MS4A13_uc009ync.2_Missense_Mutation_p.I7T|MS4A13_uc009ynd.2_Missense_Mutation_p.I7T	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	7	Helical; (Potential).					integral to membrane					0																		---	---	---	---
MS4A10	341116	broad.mit.edu	37	11	60559804	60559804	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60559804C>T	uc001npz.1	+							NM_206893	NP_996776			membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60609969	60609969	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60609969A>G	uc001nqa.2	+	1	541	c.372A>G	c.(370-372)GCA>GCG	p.A124A	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	124	Pro-rich.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615443	60615443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615443C>T	uc001nqa.2	+	2	974	c.805C>T	c.(805-807)CGG>TGG	p.R269W	CCDC86_uc001nqb.2_Missense_Mutation_p.R13W	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	269					interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615518	60615518	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615518C>A	uc001nqa.2	+	2	1049	c.880C>A	c.(880-882)CGC>AGC	p.R294S	CCDC86_uc001nqb.2_Missense_Mutation_p.R38S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	294	Potential.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60617771	60617771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60617771G>A	uc001nqa.2	+	4	1225	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	CCDC86_uc001nqb.2_Silent_p.P96P	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	352					interspecies interaction between organisms	nucleus					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637016	60637016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637016C>T	uc001nqd.2	+	3	345	c.325C>T	c.(325-327)CGT>TGT	p.R109C	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	109	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637914	60637914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637914C>T	uc001nqd.2	+	4	812	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	264	Extracellular (Potential).|P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60642608	60642608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60642608G>A	uc001nqd.2	+	11	1681	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ZP1_uc001nqe.2_Missense_Mutation_p.R261Q	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	554	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60689443	60689443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60689443C>T	uc001nqg.2	+	4	916	c.538C>T	c.(538-540)CCT>TCT	p.P180S	TMEM109_uc001nqh.2_Missense_Mutation_p.P180S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	180						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60703735	60703735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60703735A>G	uc001nqj.2	+	11	2621	c.2428A>G	c.(2428-2430)AAG>GAG	p.K810E	TMEM132A_uc001nqi.2_Missense_Mutation_p.K811E|TMEM132A_uc001nqm.2_Missense_Mutation_p.K20E	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	810	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60704348	60704348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60704348A>G	uc001nqj.2	+	11	3234	c.3041A>G	c.(3040-3042)AAC>AGC	p.N1014S	TMEM132A_uc001nqi.2_Missense_Mutation_p.N1015S|TMEM132A_uc001nqm.2_Missense_Mutation_p.N224S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1014	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
CD6	923	broad.mit.edu	37	11	60783197	60783197	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60783197C>A	uc001nqq.2	+	9	1623	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	CD6_uc001nqp.2_Missense_Mutation_p.P467H|CD6_uc001nqr.2_Missense_Mutation_p.P435H|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	467	Cytoplasmic (Potential).			VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1																		---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61044057	61044057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61044057T>C	uc001nra.2	-						VWCE_uc001nrb.2_Intron	NM_152718	NP_689931			von Willebrand factor C and EGF domains							extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61079550	61079550	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61079550C>T	uc001nrc.3	-	17	2302	c.2076G>A	c.(2074-2076)GCG>GCA	p.A692A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A692A	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	692	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61081422	61081422	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61081422G>A	uc001nrc.3	-	15	1999	c.1773C>T	c.(1771-1773)ATC>ATT	p.I591I	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I591I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	591	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DAK	26007	broad.mit.edu	37	11	61113377	61113377	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61113377C>A	uc001nre.2	+	17	1791	c.1534C>A	c.(1534-1536)CCA>ACA	p.P512T	DAK_uc009ynm.1_Missense_Mutation_p.P442T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	512	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0																		---	---	---	---
C11orf66	220004	broad.mit.edu	37	11	61257286	61257286	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61257286A>T	uc001nru.1	+	12	1201	c.1076A>T	c.(1075-1077)CAG>CTG	p.Q359L	C11orf66_uc009ynq.1_Missense_Mutation_p.Q339L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	359										ovary(1)	1																		---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61300478	61300478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61300478T>C	uc001nrv.2	-	4	340	c.334A>G	c.(334-336)ACC>GCC	p.T112A	SYT7_uc009ynr.2_Missense_Mutation_p.T187A	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	112	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61615659	61615659	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61615659G>A	uc001nsl.1	+	5	797	c.647G>A	c.(646-648)CGC>CAC	p.R216H	FADS2_uc001nsj.2_Missense_Mutation_p.R194H|FADS2_uc010rlo.1_Missense_Mutation_p.R185H|FADS2_uc001nsk.2_Missense_Mutation_p.R216H	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	216	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)													---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732893	61732893	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61732893A>G	uc001nsu.2	-	2	444	c.209T>C	c.(208-210)CTG>CCG	p.L70P		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	70	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)													---	---	---	---
SCGB1D1	10648	broad.mit.edu	37	11	61959627	61959627	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61959627C>T	uc001nsz.1	+	2	202	c.155C>T	c.(154-156)CCT>CTT	p.P52L		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	52						extracellular space	binding			skin(1)	1																		---	---	---	---
SCGB2A1	4246	broad.mit.edu	37	11	61981186	61981186	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61981186T>C	uc001nta.2	+							NM_002407	NP_002398			secretoglobin, family 2A, member 1 precursor							extracellular region	androgen binding				0																		---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298283	62298283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62298283T>C	uc001ntl.2	-	5	3906	c.3606A>G	c.(3604-3606)TTA>TTG	p.L1202L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1202					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301413	62301413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62301413G>A	uc001ntl.2	-	5	776	c.476C>T	c.(475-477)GCC>GTC	p.A159V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	159					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62338549	62338549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62338549C>T	uc001ntm.1	-	5	556	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	EEF1G_uc010rlw.1_Missense_Mutation_p.R187Q|EEF1G_uc001ntn.1_Missense_Mutation_p.R17Q	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	137	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0																		---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62394111	62394111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62394111G>A	uc001nub.2	-	21	2476	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GANAB_uc001ntz.2_Nonsense_Mutation_p.R2*|GANAB_uc001nua.2_Nonsense_Mutation_p.R837*|GANAB_uc001nuc.2_Nonsense_Mutation_p.R718*|GANAB_uc010rma.1_Nonsense_Mutation_p.R723*|GANAB_uc010rmb.1_Nonsense_Mutation_p.R701*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	815					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416356	62416356	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62416356G>T	uc001nud.2	-	2	1249	c.1196C>A	c.(1195-1197)TCT>TAT	p.S399Y	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	399					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2																		---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62520498	62520498	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62520498T>A	uc001nuz.2	-	2	911	c.789A>T	c.(787-789)CCA>CCT	p.P263P		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	263	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3																		---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62569076	62569076	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62569076A>G	uc001nvf.1	-	7	803	c.667T>C	c.(667-669)TCC>CCC	p.S223P	NXF1_uc001nvg.1_Missense_Mutation_p.S223P|NXF1_uc009yog.1_Missense_Mutation_p.S266P|NXF1_uc010rmh.1_Missense_Mutation_p.S86P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	223	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3																		---	---	---	---
WDR74	54663	broad.mit.edu	37	11	62600597	62600597	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62600597G>T	uc001nvm.1	-	12	1153	c.985C>A	c.(985-987)CCC>ACC	p.P329T	STX5_uc001nvh.2_5'Flank|STX5_uc010rmi.1_5'Flank|STX5_uc009yoh.2_5'Flank|STX5_uc001nvi.2_5'Flank|STX5_uc010rmj.1_5'Flank|STX5_uc001nvj.2_5'Flank|WDR74_uc001nvk.1_Missense_Mutation_p.P272T|WDR74_uc001nvl.1_Missense_Mutation_p.P310T|WDR74_uc001nvn.1_Missense_Mutation_p.P381T|WDR74_uc009yoi.1_Missense_Mutation_p.P329T	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	WD repeat domain 74	329						nucleolus				ovary(1)	1																		---	---	---	---
CHRM1	1128	broad.mit.edu	37	11	62677758	62677758	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62677758T>G	uc001nwi.2	-	2	1216	c.815A>C	c.(814-816)TAC>TCC	p.Y272S		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	272	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)													---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63472327	63472327	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63472327C>A	uc001nxq.2	+	2	334	c.147C>A	c.(145-147)TCC>TCA	p.S49S	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Silent_p.S49S|RTN3_uc001nxn.2_Intron|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Intron|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	49					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63488173	63488173	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63488173A>G	uc001nxq.2	+	3	2386	c.2199A>G	c.(2197-2199)GTA>GTG	p.V733V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.V714V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.V621V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	733					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63681532	63681532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63681532C>T	uc001nyc.2	-	8	1173	c.785G>A	c.(784-786)GGC>GAC	p.G262D		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2																		---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63970965	63970965	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63970965A>G	uc001nyk.1	+	13	1577	c.1430A>G	c.(1429-1431)AAC>AGC	p.N477S	STIP1_uc010rnb.1_Missense_Mutation_p.N453S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	477					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64023979	64023979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64023979A>G	uc001nzb.2	+	9	830	c.830A>G	c.(829-831)GAA>GGA	p.E277G	PLCB3_uc009ypg.1_Missense_Mutation_p.E277G|PLCB3_uc009yph.1_Missense_Mutation_p.E210G|PLCB3_uc009ypi.2_Missense_Mutation_p.E277G	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	277					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64026012	64026012	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64026012C>T	uc001nzb.2	+	11	1080	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	PLCB3_uc009ypg.1_Silent_p.C360C|PLCB3_uc009yph.1_Silent_p.C293C|PLCB3_uc009ypi.2_Silent_p.C360C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	360	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64031258	64031258	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64031258G>A	uc001nzb.2	+	21	2551	c.2551G>A	c.(2551-2553)GAC>AAC	p.D851N	PLCB3_uc009ypg.1_Missense_Mutation_p.D851N|PLCB3_uc009yph.1_Missense_Mutation_p.D784N|PLCB3_uc009ypi.2_Missense_Mutation_p.D851N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	851					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64032685	64032685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64032685C>T	uc001nzb.2	+	24	2828	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V	PLCB3_uc009ypg.1_Missense_Mutation_p.A943V|PLCB3_uc009yph.1_Missense_Mutation_p.A876V|PLCB3_uc009ypi.2_Missense_Mutation_p.A943V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	943					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
BAD	572	broad.mit.edu	37	11	64037796	64037796	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64037796C>T	uc001nzd.2	-	4	474	c.392G>A	c.(391-393)CGC>CAC	p.R131H	BAD_uc001nzc.2_Missense_Mutation_p.R131H|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	131					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1																		---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64367342	64367342	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64367342C>T	uc001oam.1	+	7	2012	c.1265C>T	c.(1264-1266)GCC>GTC	p.A422V	SLC22A12_uc001oal.1_Missense_Mutation_p.A201V|SLC22A12_uc009yps.1_Missense_Mutation_p.A388V|SLC22A12_uc001oan.1_Missense_Mutation_p.A314V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A240V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	422	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453147	64453147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453147C>T	uc001oar.2	-	7	1562	c.1123G>A	c.(1123-1125)GAC>AAC	p.D375N	NRXN2_uc001oas.2_Missense_Mutation_p.D351N|NRXN2_uc001oaq.2_Missense_Mutation_p.D49N	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10																		---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64508434	64508434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64508434G>A	uc009ypu.2	-	5	584	c.357C>T	c.(355-357)ATC>ATT	p.I119I	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.I119I|RASGRP2_uc009ypw.2_Silent_p.I119I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	119	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0																OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64540944	64540944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64540944A>G	uc001obb.1	-	3	571	c.194T>C	c.(193-195)CTG>CCG	p.L65P	SF1_uc010rnn.1_Missense_Mutation_p.L39P|SF1_uc001oaz.1_Missense_Mutation_p.L190P|SF1_uc001oba.1_Missense_Mutation_p.L65P|SF1_uc001obc.1_Missense_Mutation_p.L65P|SF1_uc001obd.1_Missense_Mutation_p.L65P|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	65					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64559444	64559444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64559444G>A	uc001obh.2	-	27	2121	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R669C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	677	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566297	64566297	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566297A>G	uc001obh.2	-	15	1158	c.1066T>C	c.(1066-1068)TGG>CGG	p.W356R	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.W356R	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	356					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566894	64566894	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566894G>T	uc001obh.2	-	14	1144	c.1052C>A	c.(1051-1053)CCG>CAG	p.P351Q	MAP4K2_uc001obi.2_Missense_Mutation_p.P351Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNHIT2	741	broad.mit.edu	37	11	64884013	64884013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64884013T>C	uc001ocw.2	-	1	1158	c.1113A>G	c.(1111-1113)GTA>GTG	p.V371V	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	371							metal ion binding			breast(1)	1																		---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64939752	64939752	+	Silent	SNP	C	T	T	rs138896599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64939752C>T	uc010rnz.1	+	4	294	c.294C>T	c.(292-294)CGC>CGT	p.R98R		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	98	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0																		---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65049201	65049201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65049201G>A	uc001odj.2	+	9	1303	c.961G>A	c.(961-963)GAG>AAG	p.E321K	POLA2_uc010rod.1_Missense_Mutation_p.E113K|POLA2_uc001odk.2_Missense_Mutation_p.E18K	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	321					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65178714	65178714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65178714C>T	uc001odu.3	+	11	1470	c.1278C>T	c.(1276-1278)GGC>GGT	p.G426G	FRMD8_uc009yqj.2_Silent_p.G370G|FRMD8_uc010rof.1_Silent_p.G392G	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	426						cytoskeleton	binding			lung(1)|pancreas(1)	2																		---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65393441	65393441	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65393441C>T	uc001oey.2	+	20	3295	c.3295C>T	c.(3295-3297)CCA>TCA	p.P1099S	PCNXL3_uc009yqn.2_Missense_Mutation_p.P59S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1099						integral to membrane					0																OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65403965	65403965	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65403965C>T	uc001oey.2	+	34	5697	c.5697C>T	c.(5695-5697)CCC>CCT	p.P1899P	PCNXL3_uc001oez.2_Silent_p.P786P	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1899	Gly-rich.					integral to membrane					0																		---	---	---	---
OVOL1	5017	broad.mit.edu	37	11	65562210	65562210	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65562210C>T	uc001ofp.2	+						OVOL1_uc001ofq.2_Intron	NM_004561	NP_004552			OVO-like 1 binding protein						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)														---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65650817	65650817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65650817G>A	uc001ogc.1	+	9	984	c.942G>A	c.(940-942)TCG>TCA	p.S314S	CTSW_uc001ogb.1_Silent_p.S314S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	314					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)														---	---	---	---
DRAP1	10589	broad.mit.edu	37	11	65688892	65688892	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65688892G>T	uc001ogj.1	+	7	849	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	202					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)														---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767122	65767122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65767122A>G	uc001ogm.1	-	4	506	c.221T>C	c.(220-222)ATT>ACT	p.I74T	EIF1AD_uc001ogn.1_Missense_Mutation_p.I74T|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	74	S1-like.					nucleus	translation initiation factor activity				0																		---	---	---	---
BANF1	8815	broad.mit.edu	37	11	65771097	65771097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65771097G>A	uc001ogo.2	+	3	632	c.124G>A	c.(124-126)GCC>ACC	p.A42T	EIF1AD_uc001ogm.1_5'Flank|EIF1AD_uc001ogn.1_5'Flank|BANF1_uc001ogp.2_Missense_Mutation_p.A42T	NM_003860	NP_003851	O75531	BAF_HUMAN	barrier to autointegration factor 1	42					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding				0																		---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66052412	66052412	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66052412G>A	uc001ohk.3	-	7	849	c.667C>T	c.(667-669)CTG>TTG	p.L223L	YIF1A_uc001ohj.2_Silent_p.L80L	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	223	Helical; (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0																		---	---	---	---
BRMS1	25855	broad.mit.edu	37	11	66106244	66106244	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66106244A>C	uc001ohp.1	-	8	788	c.641T>G	c.(640-642)GTG>GGG	p.V214G	RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001oho.1_Missense_Mutation_p.V214G|BRMS1_uc009yre.2_Missense_Mutation_p.V46G	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	214					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0																		---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66190621	66190621	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66190621C>T	uc001ohx.1	+	5	902	c.726C>T	c.(724-726)CGC>CGT	p.R242R	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0																		---	---	---	---
BBS1	582	broad.mit.edu	37	11	66288771	66288771	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66288771G>T	uc001oij.1	+	9	766	c.754G>T	c.(754-756)GAG>TAG	p.E252*	BBS1_uc001oii.1_Nonsense_Mutation_p.E289*|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Nonsense_Mutation_p.E155*|BBS1_uc001oik.1_Nonsense_Mutation_p.E176*|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	252					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66357969	66357969	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66357969T>A	uc001oiq.3	-	1	2586	c.2518A>T	c.(2518-2520)ACC>TCC	p.T840S	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	840										ovary(1)|skin(1)	2																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411054C>A	uc009yrj.2	+	3	1034	c.546C>A	c.(544-546)CGC>CGA	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)														---	---	---	---
RBM4B	83759	broad.mit.edu	37	11	66444271	66444271	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66444271G>T	uc001oja.2	-	1	949	c.280C>A	c.(280-282)CTT>ATT	p.L94I	RBM4B_uc001ojb.2_Missense_Mutation_p.L94I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	94	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66453564	66453564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66453564G>A	uc001ojd.2	-	37	7023	c.6951C>T	c.(6949-6951)AGC>AGT	p.S2317S	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2317	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66476409	66476409	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66476409C>T	uc001ojd.2	-	10	1227	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	385	Spectrin 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66555668	66555668	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66555668G>A	uc001ojf.2	+	5	568	c.561G>A	c.(559-561)CTG>CTA	p.L187L	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Silent_p.L21L	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	32											0																		---	---	---	---
RCE1	9986	broad.mit.edu	37	11	66613379	66613379	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66613379G>T	uc001ojk.1	+	8	847	c.803G>T	c.(802-804)GGT>GTT	p.G268V	RCE1_uc001ojl.1_Missense_Mutation_p.G164V	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	268	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2																		---	---	---	---
PC	5091	broad.mit.edu	37	11	66617874	66617874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66617874G>A	uc001ojn.1	-	17	2584	c.2535C>T	c.(2533-2535)TAC>TAT	p.Y845Y	PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
PC	5091	broad.mit.edu	37	11	66631240	66631240	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66631240C>A	uc001ojn.1	-						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron	NM_022172	NP_071504			pyruvate carboxylase precursor						gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67017889	67017889	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67017889A>T	uc001ojw.2	+	17	3252	c.2388A>T	c.(2386-2388)GGA>GGT	p.G796G	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.G490G|KDM2A_uc010rpn.1_Silent_p.G357G|KDM2A_uc001ojz.1_Silent_p.G254G|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	796					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			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201901	67201901	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67201901G>A	uc001old.2	+	13	1183	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	RPS6KB2_uc001olf.2_Silent_p.P167P|RPS6KB2_uc001olg.2_Silent_p.P367P|RPS6KB2_uc009yrq.2_Silent_p.P167P|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P198P	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	367	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)															---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67270088	67270088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67270088G>A	uc001olx.2	-	2	369	c.180C>T	c.(178-180)CAC>CAT	p.H60H	PITPNM1_uc001oly.2_Silent_p.H60H|PITPNM1_uc001olz.2_Silent_p.H60H	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	60					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3																		---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67432984	67432984	+	Missense_Mutation	SNP	C	T	T	rs149584817	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67432984C>T	uc001omr.2	-	7	917	c.478G>A	c.(478-480)GGC>AGC	p.G160S	ALDH3B2_uc001oms.2_Missense_Mutation_p.G160S|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G160S	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	160					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67799623	67799623	+	Missense_Mutation	SNP	G	A	A	rs139334907	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67799623G>A	uc001onc.2	+	2	112	c.5G>A	c.(4-6)CGC>CAC	p.R2H	NDUFS8_uc010rpz.1_Missense_Mutation_p.R2H|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R2H	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	2					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67804031	67804031	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67804031A>G	uc001onc.2	+	7	711	c.604A>G	c.(604-606)AAC>GAC	p.N202D	NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_3'UTR|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	202					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68031218	68031218	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68031218C>T	uc001onr.3	-	3	460	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C11orf24_uc001ons.2_Silent_p.V6V	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	6						integral to membrane					0																		---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007370	70007370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70007370G>A	uc001opj.2	+	17	1987	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	ANO1_uc001opk.1_Missense_Mutation_p.R503Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507698	70507698	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507698T>C	uc001oqc.2	-						SHANK2_uc010rqn.1_Intron|SHANK2_uc001opz.2_Intron|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Intron	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507799	70507799	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507799C>A	uc001oqc.2	-						SHANK2_uc010rqn.1_Missense_Mutation_p.R25L|SHANK2_uc001opz.2_Missense_Mutation_p.R25L|uc009ysn.1_Silent_p.S79S|SHANK2_uc010rqp.1_Missense_Mutation_p.R25L	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71209571	71209571	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71209571T>A	uc001oqn.2	+	20	2193	c.2067T>A	c.(2065-2067)AAT>AAA	p.N689K	NADSYN1_uc001oqo.2_Missense_Mutation_p.N429K|NADSYN1_uc001oqp.2_Missense_Mutation_p.N318K	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	689	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276712	71276712	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71276712G>A	uc001oqt.1	+	1	104	c.79G>A	c.(79-81)GGC>AGC	p.G27S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	27						keratin filament				skin(1)	1																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71720311	71720311	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71720311T>C	uc001orl.1	-						NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Intron|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Intron|NUMA1_uc001orn.2_Intron	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
FOLR2	2350	broad.mit.edu	37	11	71932594	71932594	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71932594C>A	uc009ytd.2	+	5	725	c.556C>A	c.(556-558)CTC>ATC	p.L186I	FOLR2_uc009yte.2_Missense_Mutation_p.L186I|FOLR2_uc001ose.3_Missense_Mutation_p.L186I|FOLR2_uc009ytf.2_Missense_Mutation_p.L186I	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	186					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)													---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942175	71942175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942175A>G	uc001osf.2	+	12	1586	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	INPPL1_uc001osg.2_Missense_Mutation_p.E238G	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942618	71942618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942618T>C	uc001osf.2	+	13	1721	c.1574T>C	c.(1573-1575)GTC>GCC	p.V525A	INPPL1_uc001osg.2_Missense_Mutation_p.V283A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71946494	71946494	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71946494C>T	uc001osf.2	+	23	2805	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	INPPL1_uc001osg.2_Silent_p.Y644Y	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	886					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948754	71948754	+	Missense_Mutation	SNP	C	T	T	rs141174136	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71948754C>T	uc001osf.2	+	26	3613	c.3466C>T	c.(3466-3468)CGG>TGG	p.R1156W	INPPL1_uc001osg.2_Missense_Mutation_p.R914W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72295608	72295608	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72295608C>T	uc010rrc.1	-	18	1767	c.1524G>A	c.(1522-1524)AAG>AAA	p.K508K	PDE2A_uc001oso.2_Silent_p.K487K|PDE2A_uc010rra.1_Silent_p.K501K|PDE2A_uc001osn.2_Silent_p.K252K|PDE2A_uc010rrb.1_Silent_p.K499K|PDE2A_uc010rrd.1_Silent_p.K393K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	508	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)													---	---	---	---
RELT	84957	broad.mit.edu	37	11	73104972	73104972	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73104972A>G	uc001otv.2	+						RELT_uc001otw.2_Intron|RELT_uc001otx.2_Intron	NM_152222	NP_689408			RELT tumor necrosis factor receptor precursor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1																OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74009355	74009355	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74009355C>T	uc001ouz.2	-	4	662	c.619G>A	c.(619-621)GCT>ACT	p.A207T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.A207T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	207						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)																	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74315765	74315765	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74315765C>T	uc001ovf.1	+	3	220	c.145C>T	c.(145-147)CGA>TGA	p.R49*	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	49					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)																	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74421942	74421942	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74421942C>T	uc001ovi.2	-	4	637	c.384G>A	c.(382-384)GAG>GAA	p.E128E	CHRDL2_uc001ovg.2_Silent_p.E12E|CHRDL2_uc001ovh.2_Silent_p.E128E|CHRDL2_uc001ovk.1_Silent_p.E128E			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	128	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)																	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74570275	74570275	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74570275T>C	uc009yub.2	-	12	1406	c.1074A>G	c.(1072-1074)TCA>TCG	p.S358S	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Missense_Mutation_p.T112A|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	358					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74993028	74993028	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74993028G>A	uc001owe.1	-	6	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ARRB1_uc001owf.1_Missense_Mutation_p.P131L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	131	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115222	75115222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115222C>T	uc001owh.2	+	5	539	c.509C>T	c.(508-510)ACT>ATT	p.T170I	RPS3_uc001owi.2_Missense_Mutation_p.T170I|RPS3_uc001owk.1_Missense_Mutation_p.T44I|SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	170					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115466	75115466	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115466T>A	uc001owh.2	+						RPS3_uc001owi.2_Intron|RPS3_uc001owk.1_Intron|SNORD15B_uc001owl.1_RNA	NM_001005	NP_000996			ribosomal protein S3						activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694518	75694518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75694518G>A	uc001oxc.2	+	8	1028	c.787G>A	c.(787-789)GCA>ACA	p.A263T	UVRAG_uc010rrw.1_Missense_Mutation_p.A162T|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	263	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6																		---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76507436	76507436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76507436T>A	uc001oxt.2	+	2	948	c.776T>A	c.(775-777)CTG>CAG	p.L259Q		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	259	LRR 9.					extracellular region					0	Ovarian(111;0.112)																	---	---	---	---
OMP	4975	broad.mit.edu	37	11	76814187	76814187	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76814187A>G	uc010rsk.1	+	1	302	c.302A>G	c.(301-303)GAC>GGC	p.D101G	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	101					sensory perception of smell|synaptic transmission						0																		---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77091002	77091002	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77091002A>C	uc001oyh.3	-	3	761	c.228T>G	c.(226-228)TCT>TCG	p.S76S	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Silent_p.S76S|PAK1_uc001oyi.1_Silent_p.S76S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	76	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)																	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77409545	77409545	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77409545T>G	uc001oyn.2	-	7	2822	c.2702A>C	c.(2701-2703)AAC>ACC	p.N901T	RSF1_uc001oym.2_Missense_Mutation_p.N649T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	901	PHD-type.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77639459	77639459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77639459T>C	uc001oys.2	-	11	1328	c.1300A>G	c.(1300-1302)ACC>GCC	p.T434A	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.T434A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	434	HEAT 7.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)															---	---	---	---
ALG8	79053	broad.mit.edu	37	11	77817965	77817965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77817965G>A	uc001oza.1	-	10	1131	c.1066C>T	c.(1066-1068)CCC>TCC	p.P356S	ALG8_uc001oyz.1_Missense_Mutation_p.P356S|ALG8_uc009yux.1_Missense_Mutation_p.P254S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	356					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885115	77885115	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885115C>A	uc001ozb.2	-	2	561	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	162						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885584	77885584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77907407	77907407	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77907407T>C	uc009yva.1	+	2	362	c.116T>C	c.(115-117)CTG>CCG	p.L39P	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	39					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77921303C>A	uc009yva.1	+	10	2648	c.2402C>A	c.(2401-2403)CCG>CAG	p.P801Q	USP35_uc001oze.2_Missense_Mutation_p.P557Q|USP35_uc001ozc.2_Missense_Mutation_p.P369Q|USP35_uc010rsp.1_Missense_Mutation_p.P233Q|USP35_uc001ozd.2_Missense_Mutation_p.P412Q|USP35_uc001ozf.2_Missense_Mutation_p.P532Q	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
ODZ4	26011	broad.mit.edu	37	11	78369545	78369545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78369545C>T	uc001ozl.3	-	34	8331	c.7868G>A	c.(7867-7869)GGA>GAA	p.G2623E	ODZ4_uc001ozk.3_Missense_Mutation_p.G848E|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2623	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877480	82877480	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82877480C>T	uc001ozx.3	+	5	1886	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	PCF11_uc010rsu.1_Missense_Mutation_p.S514L	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82878291	82878291	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82878291G>A	uc001ozx.3	+	6	2287	c.1942G>A	c.(1942-1944)GCC>ACC	p.A648T	PCF11_uc010rsu.1_Missense_Mutation_p.A648T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	648					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880832	82880832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82880832T>C	uc001ozx.3	+	8	3800	c.3455T>C	c.(3454-3456)TTC>TCC	p.F1152S	PCF11_uc010rsu.1_Missense_Mutation_p.F1283S	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1152					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375106	85375106	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85375106C>T	uc001pas.2	-	1	1077	c.814G>A	c.(814-816)GCC>ACC	p.A272T	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	272					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)														OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445705	85445705	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85445705G>T	uc010rth.1	-	6	940	c.664C>A	c.(664-666)CCA>ACA	p.P222T	SYTL2_uc010rtg.1_Missense_Mutation_p.P223T|SYTL2_uc010rti.1_Missense_Mutation_p.P222T|SYTL2_uc010rtj.1_Missense_Mutation_p.P174T|SYTL2_uc001pbf.3_Missense_Mutation_p.P222T|SYTL2_uc010rtf.1_Missense_Mutation_p.P80T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	222					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)														---	---	---	---
C11orf73	51501	broad.mit.edu	37	11	86017344	86017344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86017344T>C	uc001pbu.2	+	2	326	c.88T>C	c.(88-90)TAT>CAT	p.Y30H	C11orf73_uc001pbt.2_Missense_Mutation_p.Y30H|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	30						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)																---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86106389	86106389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86106389T>C	uc001pbx.1	+	5	997	c.569T>C	c.(568-570)GTG>GCG	p.V190A	CCDC81_uc001pbw.1_Missense_Mutation_p.V100A|CCDC81_uc010rtq.1_5'UTR|CCDC81_uc001pby.1_5'UTR	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	190										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)																---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86665896	86665896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86665896G>A	uc001pce.2	-	1	538	c.232C>T	c.(232-234)CAG>TAG	p.Q78*	uc001pcf.2_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	78	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87029283	87029283	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:87029283T>C	uc001pch.2	+						TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Intron	NM_022918	NP_075069			transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88242507	88242507	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88242507G>A	uc001pcq.2	-	9	3092	c.2892C>T	c.(2890-2892)GGC>GGT	p.G964G	GRM5_uc009yvm.2_Silent_p.G932G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	964	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780887	88780887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780887C>T	uc001pcq.2	-	1	354	c.154G>A	c.(154-156)GTT>ATT	p.V52I	GRM5_uc009yvm.2_Missense_Mutation_p.V52I|GRM5_uc009yvn.1_Missense_Mutation_p.V52I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	52	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087436	92087436	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087436A>G	uc001pdj.3	+	1	2175	c.2158A>G	c.(2158-2160)AGA>GGA	p.R720G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	720	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087574	92087574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087574T>A	uc001pdj.3	+	1	2313	c.2296T>A	c.(2296-2298)TCA>ACA	p.S766T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92531257	92531257	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92531257T>A	uc001pdj.3	+	9	5095	c.5078T>A	c.(5077-5079)ATC>AAC	p.I1693N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1693	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534472	92534472	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92534472A>T	uc001pdj.3	+	9	8310	c.8293A>T	c.(8293-8295)ATT>TTT	p.I2765F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2765	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568120	92568120	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92568120C>A	uc001pdj.3	+	14	9973	c.9956C>A	c.(9955-9957)CCA>CAA	p.P3319Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3319	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616316	92616316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92616316G>A	uc001pdj.3	+	23	12711	c.12694G>A	c.(12694-12696)GTG>ATG	p.V4232M	FAT3_uc001pdi.3_Missense_Mutation_p.V672M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4232	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
MED17	9440	broad.mit.edu	37	11	93545200	93545200	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93545200T>C	uc001pem.3	+	12	2201	c.1926T>C	c.(1924-1926)CTT>CTC	p.L642L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	642					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
FOLR4	390243	broad.mit.edu	37	11	94038882	94038882	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94038882G>C	uc010rud.1	+	1	80	c.80G>C	c.(79-81)TGC>TCC	p.C27S		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	27						extracellular region	folic acid binding|receptor activity			ovary(1)	1																		---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134373	94134373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94134373A>G	uc001pet.2	-	1	213	c.41T>C	c.(40-42)GTG>GCG	p.V14A		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	14						integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94200987	94200987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94200987G>A	uc001peu.2	-	10	1279	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	MRE11A_uc001pev.2_Nonsense_Mutation_p.R364*|MRE11A_uc009ywj.2_Nonsense_Mutation_p.R367*|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)											Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578206	95578206	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578206G>A	uc001pfu.2	-	11	1550	c.1297C>T	c.(1297-1299)CTC>TTC	p.L433F	MTMR2_uc001pfv.2_Missense_Mutation_p.L361F|MTMR2_uc001pfs.2_Missense_Mutation_p.L361F|MTMR2_uc001pft.2_Missense_Mutation_p.L361F|MTMR2_uc010ruj.1_Missense_Mutation_p.L416F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	433	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578262	95578262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578262A>G	uc001pfu.2	-	11	1494	c.1241T>C	c.(1240-1242)GTA>GCA	p.V414A	MTMR2_uc001pfv.2_Missense_Mutation_p.V342A|MTMR2_uc001pfs.2_Missense_Mutation_p.V342A|MTMR2_uc001pft.2_Missense_Mutation_p.V342A|MTMR2_uc010ruj.1_Missense_Mutation_p.V397A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95724805	95724805	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95724805T>C	uc001pfw.1	-	3	3507	c.2222A>G	c.(2221-2223)TAC>TGC	p.Y741C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	741					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)						T	MECT1|CRTC3	salivary gland mucoepidermoid								---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99931951	99931951	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99931951C>T	uc001pga.2	+	10	1327	c.988C>T	c.(988-990)CCA>TCA	p.P330S	CNTN5_uc009ywv.1_Missense_Mutation_p.P330S|CNTN5_uc001pfz.2_Missense_Mutation_p.P330S|CNTN5_uc001pgb.2_Missense_Mutation_p.P256S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	330	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101374854	101374854	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101374854A>G	uc001pgk.3	-	2	1271	c.846T>C	c.(844-846)AGT>AGC	p.S282S	TRPC6_uc009ywy.2_Silent_p.S282S|TRPC6_uc009ywz.1_Silent_p.S282S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	282	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375465	101375465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101375465A>G	uc001pgk.3	-	2	660	c.235T>C	c.(235-237)TTA>CTA	p.L79L	TRPC6_uc009ywy.2_Silent_p.L79L|TRPC6_uc009ywz.1_Silent_p.L79L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	79	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101818760	101818760	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101818760A>G	uc001pgm.2	+	4	665	c.395_splice	c.e4-2	p.V132_splice	KIAA1377_uc001pgn.2_Splice_Site_p.V88_splice|KIAA1377_uc009yxa.1_Splice_Site	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834620	101834620	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101834620A>G	uc001pgm.2	+						KIAA1377_uc001pgn.2_Intron|KIAA1377_uc010run.1_Intron	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
BIRC2	329	broad.mit.edu	37	11	102248433	102248433	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102248433A>G	uc001pgy.2	+	7	2972	c.1573A>G	c.(1573-1575)AAA>GAA	p.K525E	BIRC2_uc010ruq.1_Missense_Mutation_p.K476E|BIRC2_uc010rur.1_Missense_Mutation_p.K525E	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	525	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102482514	102482514	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102482514C>T	uc001phc.2	-	3	508	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	165					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102487565	102487565	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102487565T>C	uc001phc.2	-	2	365	c.352A>G	c.(352-354)AAA>GAA	p.K118E		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	118					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP27	64066	broad.mit.edu	37	11	102567160	102567160	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102567160C>T	uc001phd.1	-	6	867	c.844G>A	c.(844-846)GAC>AAC	p.D282N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	282					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)														---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102713491	102713491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102713491G>A	uc001phj.1	-	2	327	c.262C>T	c.(262-264)CGC>TGC	p.R88C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	88					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)													---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102980475	102980475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102980475G>A	uc001pho.2	+	1	316	c.172G>A	c.(172-174)GCA>ACA	p.A58T	DYNC2H1_uc001phn.1_Missense_Mutation_p.A58T|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A58T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	58	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102988470	102988470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102988470C>T	uc001pho.2	+	6	1021	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q293*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.Q293*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	293	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103004387	103004387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103004387C>T	uc001pho.2	+	14	2201	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	DYNC2H1_uc001phn.1_Missense_Mutation_p.A686V|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A686V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	686	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103070066	103070066	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103070066C>A	uc001pho.2	+	49	8093	c.7949C>A	c.(7948-7950)TCA>TAA	p.S2650*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S2650*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2650	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103102032	103102032	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103102032C>G	uc001pho.2	+	60	9541	c.9397C>G	c.(9397-9399)CTT>GTT	p.L3133V	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3133V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3133	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103907793	103907793	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103907793A>T	uc001phr.2	+	1	486	c.243A>T	c.(241-243)GGA>GGT	p.G81G	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908242	103908242	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908242T>C	uc001phr.2	+	1	935	c.692T>C	c.(691-693)ATA>ACA	p.I231T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	231					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
CASP4	837	broad.mit.edu	37	11	104821692	104821692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104821692A>G	uc001pid.1	-	4	579	c.506T>C	c.(505-507)CTG>CCG	p.L169P	CASP4_uc001pib.1_Missense_Mutation_p.L113P|CASP4_uc009yxg.1_Missense_Mutation_p.L78P|CASP4_uc010rux.1_Missense_Mutation_p.L169P	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	169					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869751	104869751	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869751T>G	uc010rva.1	-	7	989	c.957A>C	c.(955-957)AAA>AAC	p.K319N	CASP5_uc010ruz.1_Missense_Mutation_p.K332N|CASP5_uc010rvb.1_Missense_Mutation_p.K261N|CASP5_uc010rvc.1_Missense_Mutation_p.K177N|CASP5_uc009yxh.2_Missense_Mutation_p.K101N|CASP5_uc010rvd.1_Missense_Mutation_p.K101N	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	319					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105845262	105845262	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105845262A>G	uc001pix.2	+						GRIA4_uc001piw.2_Missense_Mutation_p.T879A|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820			glutamate receptor, ionotrophic, AMPA 4 isoform						glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)													---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105924271	105924271	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105924271T>A	uc001pja.2	-	4	1785	c.1145A>T	c.(1144-1146)GAT>GTT	p.D382V	KBTBD3_uc001pjb.2_Missense_Mutation_p.D382V|KBTBD3_uc009yxm.2_Missense_Mutation_p.D303V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	378	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
SLC35F2	54733	broad.mit.edu	37	11	107682454	107682454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107682454T>A	uc001pjq.2	-	3	774	c.353A>T	c.(352-354)GAT>GTT	p.D118V	SLC35F2_uc010rvu.1_5'UTR|SLC35F2_uc001pjs.2_Missense_Mutation_p.D118V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	118	Helical; (Potential).				transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)														---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107917050	107917050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107917050A>G	uc001pjv.2	+	3	855	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	63					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)														---	---	---	---
ATM	472	broad.mit.edu	37	11	108155161	108155161	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108155161C>A	uc001pkb.1	+	26	4339	c.3954C>A	c.(3952-3954)GTC>GTA	p.V1318V	ATM_uc009yxr.1_Silent_p.V1318V|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1318					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
ATM	472	broad.mit.edu	37	11	108199851	108199851	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108199851A>G	uc001pkb.1	+	49	7578	c.7193A>G	c.(7192-7194)TAC>TGC	p.Y2398C	ATM_uc009yxr.1_Missense_Mutation_p.Y2398C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Y1050C|ATM_uc001pkg.1_Missense_Mutation_p.Y755C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2398	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108547842	108547842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108547842A>G	uc001pkm.2	+	4	474	c.409A>G	c.(409-411)ACT>GCT	p.T137A	DDX10_uc001pkl.1_Missense_Mutation_p.T137A	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	137	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)				T	NUP98	AML*								---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110035934	110035934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110035934G>A	uc009yxw.2	+	6	2175	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	ZC3H12C_uc010rwc.1_Silent_p.L709L|ZC3H12C_uc010rwd.1_Silent_p.L709L|ZC3H12C_uc001pkr.3_Silent_p.L677L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	708							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)														---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111593434	111593434	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111593434T>C	uc001plt.2	+	14	2219	c.2101T>C	c.(2101-2103)TGC>CGC	p.C701R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	701					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3																		---	---	---	---
FDXACB1	91893	broad.mit.edu	37	11	111745746	111745746	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111745746T>C	uc001pmc.3	-	5	2072	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Y443C	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	592	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0																		---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111888543	111888543	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111888543T>C	uc001pml.2	+	20	2202	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DIXDC1_uc001pmm.2_Silent_p.D424D|DIXDC1_uc001pmn.2_Silent_p.D341D|DIXDC1_uc010rwq.1_Silent_p.D300D	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	635	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)														---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112071468	112071468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112071468T>C	uc001pnf.2	+	7	1115	c.998T>C	c.(997-999)TTT>TCT	p.F333S	BCO2_uc001pne.1_Missense_Mutation_p.F160S|BCO2_uc001png.2_Missense_Mutation_p.F260S|BCO2_uc001pnh.2_Missense_Mutation_p.F299S|BCO2_uc010rwt.1_Missense_Mutation_p.F228S|BCO2_uc009yyn.2_Missense_Mutation_p.F299S|BCO2_uc001pni.2_Missense_Mutation_p.F299S	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	333					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112072775	112072775	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112072775T>G	uc001pnf.2	+	8	1173	c.1056T>G	c.(1054-1056)CCT>CCG	p.P352P	BCO2_uc001pne.1_Silent_p.P179P|BCO2_uc001png.2_Silent_p.P279P|BCO2_uc001pnh.2_Silent_p.P318P|BCO2_uc010rwt.1_Silent_p.P247P|BCO2_uc009yyn.2_Silent_p.P318P|BCO2_uc001pni.2_Silent_p.P318P	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	352					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
PTS	5805	broad.mit.edu	37	11	112099313	112099313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112099313T>C	uc001pnj.3	+						PTS_uc009yyo.2_Intron	NM_000317	NP_000308			6-pyruvoyltetrahydropterin synthase						cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding				0		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113085138	113085138	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113085138G>A	uc009yyq.1	+	8	1304	c.610G>A	c.(610-612)GAG>AAG	p.E204K	NCAM1_uc001pno.2_Missense_Mutation_p.E204K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	322	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113103011	113103011	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113103011C>T	uc009yyq.1	+	12	1778	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	454	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113105824C>T	uc009yyq.1	+	15	2181	c.1487C>T	c.(1486-1488)GCG>GTG	p.A496V		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	588	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113210045	113210045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113210045C>T	uc001pnu.2	+	10	780	c.675C>T	c.(673-675)GAC>GAT	p.D225D	TTC12_uc001pnv.2_Silent_p.D231D|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.D75D	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	225							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283413	113283413	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113283413G>T	uc001pnz.2	-	6	1324	c.1003C>A	c.(1003-1005)CCC>ACC	p.P335T	DRD2_uc010rwv.1_Missense_Mutation_p.P334T|DRD2_uc001poa.3_Missense_Mutation_p.P335T|DRD2_uc001pob.3_Missense_Mutation_p.P306T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	335	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113295153	113295153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113295153A>T	uc001pnz.2	-	1	542	c.221T>A	c.(220-222)GTC>GAC	p.V74D	DRD2_uc010rwv.1_Missense_Mutation_p.V74D|DRD2_uc001poa.3_Missense_Mutation_p.V74D|DRD2_uc001pob.3_Missense_Mutation_p.V74D|DRD2_uc009yyr.1_Missense_Mutation_p.V74D	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	74	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113644272	113644272	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113644272C>T	uc001poe.2	-						ZW10_uc009yyv.2_Intron	NM_004724	NP_004715			centromere/kinetochore protein zw10						cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700038	113700038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700038C>T	uc001poh.2	-	10	973	c.940G>A	c.(940-942)GGC>AGC	p.G314S	USP28_uc001pog.2_Missense_Mutation_p.G22S|USP28_uc010rwy.1_Missense_Mutation_p.G189S|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.G314S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	314					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700069	113700069	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700069T>C	uc001poh.2	-	10	944	c.911_splice	c.e10-1	p.G304_splice	USP28_uc001pog.2_Silent_p.L11L|USP28_uc010rwy.1_Splice_Site_p.G179_splice|USP28_uc001poi.2_Splice_Site|USP28_uc001poj.3_Splice_Site_p.G304_splice	NM_020886	NP_065937			ubiquitin specific protease 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857522	113857522	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857522C>A	uc010rxb.1	+	7	1239	c.1006C>A	c.(1006-1008)CTT>ATT	p.L336I	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)													---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114112918	114112918	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114112918T>G	uc001pop.2	+	5	1747	c.1483T>G	c.(1483-1485)TGT>GGT	p.C495G	ZBTB16_uc001poq.2_Missense_Mutation_p.C495G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	495	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121116	114121116	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114121116C>A	uc001pop.2	+	7	2125	c.1861C>A	c.(1861-1863)CTG>ATG	p.L621M	ZBTB16_uc001poq.2_Missense_Mutation_p.L621M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	621	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
NNMT	4837	broad.mit.edu	37	11	114182929	114182929	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114182929C>A	uc001por.1	+	5	789	c.525C>A	c.(523-525)ACC>ACA	p.T175T	NNMT_uc001pos.1_Silent_p.T175T	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	175					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)													---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114392823	114392823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114392823T>A	uc001ppa.2	-	6	1502	c.1085A>T	c.(1084-1086)GAT>GTT	p.D362V	FAM55A_uc010rxd.1_Missense_Mutation_p.D211V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	504						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114401086	114401086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661462	116661462	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661462C>A	uc001ppr.2	-	3	491	c.483G>T	c.(481-483)CAG>CAT	p.Q161H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Q161H|APOA5_uc009yzf.2_Missense_Mutation_p.Q161H|APOA5_uc009yzg.2_Missense_Mutation_p.Q187H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	161					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661593	116661593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661593C>T	uc001ppr.2	-	3	360	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.V118M|APOA5_uc009yzf.2_Missense_Mutation_p.V118M|APOA5_uc009yzg.2_Missense_Mutation_p.V144M	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	118	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116767020	116767020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116767020G>A	uc001ppy.2	-	6	676	c.640C>T	c.(640-642)CGG>TGG	p.R214W	SIK3_uc001ppz.2_Missense_Mutation_p.R113W|SIK3_uc001pqa.2_Missense_Mutation_p.R214W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	214	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12																		---	---	---	---
PAFAH1B2	5049	broad.mit.edu	37	11	117038342	117038342	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117038342G>A	uc001pqe.1	+	6	719	c.617G>A	c.(616-618)TGC>TAC	p.C206Y	PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	206					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)				T	IGH@	MLCLS								---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117066583C>T	uc001pqh.1	+	25	2429	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIDT2_uc010rxe.1_Silent_p.H796H|SIDT2_uc001pqg.2_Silent_p.H817H|SIDT2_uc001pqi.1_Silent_p.H793H|SIDT2_uc001pqj.1_Silent_p.H108H|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	796	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)														---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117089225	117089225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117089225C>A	uc001pqr.2	-	12	1692	c.1491G>T	c.(1489-1491)AAG>AAT	p.K497N		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	497	Homo B/P.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)				T	IGH@	MLCLS								---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117152804	117152804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117152804T>C	uc001pqt.2	+	11	1575	c.1530T>C	c.(1528-1530)AAT>AAC	p.N510N	RNF214_uc001pqu.2_Silent_p.N510N|RNF214_uc010rxf.1_Silent_p.N355N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	510	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155864	117155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155864A>T	uc001pqt.2	+	15	2154	c.2109A>T	c.(2107-2109)AAA>AAT	p.K703N	RNF214_uc001pqu.2_Missense_Mutation_p.K703N|RNF214_uc010rxf.1_Missense_Mutation_p.K548N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	703							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310647	117310647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117310647C>T	uc001prh.1	-	22	4050	c.4048G>A	c.(4048-4050)GCA>ACA	p.A1350T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1290	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117351946	117351946	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117351946A>G	uc001prh.1	-	13	2781	c.2779T>C	c.(2779-2781)TGC>CGC	p.C927R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	867	Extracellular (Potential).|Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117376239	117376239	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117376239G>A	uc001prh.1	-	9	2174	c.2172C>T	c.(2170-2172)AAC>AAT	p.N724N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	664	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
SCN2B	6327	broad.mit.edu	37	11	118039292	118039292	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118039292G>T	uc001psf.2	-							NM_004588	NP_004579			sodium channel, voltage-gated, type II, beta						synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)														---	---	---	---
MPZL3	196264	broad.mit.edu	37	11	118106262	118106262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118106262A>G	uc001psm.2	-	4	496	c.494T>C	c.(493-495)CTT>CCT	p.L165P	MPZL3_uc010rxy.1_Missense_Mutation_p.L153P|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	165	Helical; (Potential).				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)														---	---	---	---
CD3D	915	broad.mit.edu	37	11	118211157	118211157	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118211157T>A	uc001pss.1	-	2	344	c.207A>T	c.(205-207)GGA>GGT	p.G69G	CD3D_uc001pst.1_Silent_p.G69G	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	69	Extracellular (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118359369	118359369	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118359369T>C	uc001pta.2	+	11	4396	c.4373T>C	c.(4372-4374)TTT>TCT	p.F1458S	MLL_uc001ptb.2_Missense_Mutation_p.F1458S|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1458	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
MLL	4297	broad.mit.edu	37	11	118376836	118376836	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118376836C>T	uc001pta.2	+	27	10243	c.10220C>T	c.(10219-10221)CCA>CTA	p.P3407L	MLL_uc001ptb.2_Missense_Mutation_p.P3410L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3407					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
TMEM25	84866	broad.mit.edu	37	11	118403848	118403848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118403848G>A	uc010rye.1	+	4	773	c.599G>A	c.(598-600)CGC>CAC	p.R200H	TMEM25_uc010ryd.1_Missense_Mutation_p.R200H|TMEM25_uc001ptk.3_Missense_Mutation_p.R200H|TMEM25_uc001pth.2_Missense_Mutation_p.R200H|TMEM25_uc009zad.2_Missense_Mutation_p.R200H|TMEM25_uc001pti.2_Missense_Mutation_p.R96H|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.R200H|TMEM25_uc001ptm.2_Missense_Mutation_p.R200H|TMEM25_uc001ptn.2_Missense_Mutation_p.R200H	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	200	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118416578	118416578	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118416578G>A	uc001ptp.1	-						TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Intron|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538			IFT46						flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0																		---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498402	118498402	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498402G>A	uc001ptr.1	+	7	1216	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PHLDB1_uc010ryh.1_Missense_Mutation_p.R287H|PHLDB1_uc001pts.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptt.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R88H|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	288											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498590	118498590	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498590C>T	uc001ptr.1	+	7	1404	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	PHLDB1_uc010ryh.1_Missense_Mutation_p.R350W|PHLDB1_uc001pts.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptt.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R151W|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	351											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919507	118919507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118919507A>G	uc001puu.2	-	18	2277	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	HYOU1_uc001put.2_Missense_Mutation_p.M660T|HYOU1_uc010ryu.1_Missense_Mutation_p.M653T|HYOU1_uc010ryv.1_Missense_Mutation_p.M584T|HYOU1_uc001pux.3_Missense_Mutation_p.M695T|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	695						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118922291	118922291	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118922291A>G	uc001puu.2	-	13	1578	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HYOU1_uc001put.2_Missense_Mutation_p.L427P|HYOU1_uc010ryu.1_Missense_Mutation_p.L482P|HYOU1_uc010ryv.1_Missense_Mutation_p.L351P|HYOU1_uc001pux.3_Missense_Mutation_p.L462P|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.L462P	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	462						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119059156	119059156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119059156G>A	uc001pwb.2	+	6	1677	c.1153G>A	c.(1153-1155)GTG>ATG	p.V385M	PDZD3_uc001pvy.2_Missense_Mutation_p.V305M|PDZD3_uc001pvz.2_Missense_Mutation_p.V319M|PDZD3_uc010rzd.1_Missense_Mutation_p.V306M|PDZD3_uc001pwa.2_Missense_Mutation_p.V15M			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	385	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)														---	---	---	---
MCAM	4162	broad.mit.edu	37	11	119185585	119185585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119185585G>A	uc001pwf.2	-	3	387	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	120	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)														---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119205959	119205959	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119205959G>A	uc001pwh.2	+	1	723	c.127G>A	c.(127-129)GTC>ATC	p.V43I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	43	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)														---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119217211	119217211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119217211A>G	uc001pwj.2	-	1	173	c.13T>C	c.(13-15)TCA>CCA	p.S5P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S5P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
USP2	9099	broad.mit.edu	37	11	119243939	119243939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119243939G>A	uc001pwm.3	-	2	547	c.252C>T	c.(250-252)GAC>GAT	p.D84D	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)														---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120169101	120169101	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120169101T>C	uc001pxc.2	+	4	360	c.258_splice	c.e4+2	p.Q86_splice	POU2F3_uc010rzk.1_Splice_Site_p.G25_splice|POU2F3_uc010rzl.1_Splice_Site_p.Q16_splice	NM_014352	NP_055167			POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)														---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120319906	120319906	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120319906G>A	uc001pxl.1	+	21	1833	c.1826G>A	c.(1825-1827)CGT>CAT	p.R609H	ARHGEF12_uc009zat.2_Missense_Mutation_p.R590H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R506H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R506H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	609					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996433	120996433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120996433C>T	uc010rzo.1	+	7	1626	c.1626C>T	c.(1624-1626)GAC>GAT	p.D542D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	542					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120998788	120998788	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120998788G>A	uc010rzo.1	+	8	2102	c.2102G>A	c.(2101-2103)GGC>GAC	p.G701D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	701					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121429410	121429410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121429410G>A	uc001pxx.2	+	20	2854	c.2774G>A	c.(2773-2775)GGC>GAC	p.G925D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	925	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121454212	121454212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121454212G>A	uc001pxx.2	+	26	3706	c.3626G>A	c.(3625-3627)GGG>GAG	p.G1209E	SORL1_uc010rzp.1_Missense_Mutation_p.G55E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1209	Extracellular (Potential).|LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122756903	122756903	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122756903T>C	uc001pym.2	+	2	641	c.344_splice	c.e2+2	p.R115_splice	C11orf63_uc001pyl.1_Splice_Site_p.R115_splice	NM_024806	NP_079082			hypothetical protein LOC79864 isoform 1											ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774952	122774952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774952T>A	uc001pym.2	+	3	961	c.664T>A	c.(664-666)TCG>ACG	p.S222T	C11orf63_uc001pyl.1_Missense_Mutation_p.S222T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	222										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774956	122774956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774956G>A	uc001pym.2	+	3	965	c.668G>A	c.(667-669)AGC>AAC	p.S223N	C11orf63_uc001pyl.1_Missense_Mutation_p.S223N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	223										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122805178	122805178	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122805178A>G	uc001pym.2	+	5	1326	c.1029A>G	c.(1027-1029)GTA>GTG	p.V343V		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	343										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929501	122929501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122929501T>C	uc001pyo.2	-	7	1439	c.1361A>G	c.(1360-1362)AAC>AGC	p.N454S	HSPA8_uc009zbc.2_Missense_Mutation_p.N218S|HSPA8_uc001pyp.2_Missense_Mutation_p.N454S|HSPA8_uc010rzu.1_Missense_Mutation_p.N377S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	454					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---
ASAM	79827	broad.mit.edu	37	11	122955429	122955429	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122955429A>G	uc001pyt.2	-							NM_024769	NP_079045			adipocyte-specific adhesion molecule precursor							integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777391	123777391	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123777391T>G	uc010saa.1	+	1	253	c.253T>G	c.(253-255)TTT>GTT	p.F85V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900356	123900356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900356G>A	uc001pzp.1	+	1	27	c.27G>A	c.(25-27)GCG>GCA	p.A9A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124016061	124016061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124016061G>A	uc001pzu.2	+	18	2481	c.2272G>A	c.(2272-2274)GCC>ACC	p.A758T	VWA5A_uc001pzt.2_Missense_Mutation_p.A758T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	758										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
OR8G2	26492	broad.mit.edu	37	11	124095831	124095831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124095831A>G	uc010saf.1	+	1	434	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	145						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	124135712	124135712	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124135712A>G								OR8G2 (39402 upstream) : OR8D1 (44025 downstream)																																			---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253182	124253182	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124253182G>A	uc010sai.1	-	1	58	c.58C>T	c.(58-60)CAT>TAT	p.H20Y	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124266612	124266612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124266612A>G	uc010saj.1	-	1	636	c.636T>C	c.(634-636)TGT>TGC	p.C212C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310559	124310559	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310559A>G	uc010sal.1	-	1	423	c.423T>C	c.(421-423)TGT>TGC	p.C141C		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310909	124310909	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310909T>A	uc010sal.1	-	1	73	c.73A>T	c.(73-75)ATC>TTC	p.I25F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413100	124413100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413100C>T	uc010sam.1	-	1	451	c.451G>A	c.(451-453)GGG>AGG	p.G151R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413431C>T	uc010sam.1	-	1	120	c.120G>A	c.(118-120)GGG>GGA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124618372	124618372	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124618372C>T	uc001qas.2	-	6	841	c.765G>A	c.(763-765)TTG>TTA	p.L255L	VSIG2_uc001qat.2_Silent_p.L255L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	255	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)														---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124628331	124628331	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124628331T>C	uc001qav.3	-	2	336	c.163A>G	c.(163-165)ACC>GCC	p.T55A	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_5'Flank|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.T55A	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	55	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)												OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C11orf61	79684	broad.mit.edu	37	11	124637844	124637844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124637844T>C	uc001qba.1	-	4	931	c.908A>G	c.(907-909)GAC>GGC	p.D303G	C11orf61_uc001qaz.1_Missense_Mutation_p.D251G|C11orf61_uc010sap.1_Missense_Mutation_p.D23G|C11orf61_uc001qay.1_Missense_Mutation_p.D73G	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	303											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)														---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766208	124766208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124766208C>A	uc001qbg.2	-	4	705	c.565G>T	c.(565-567)GGG>TGG	p.G189W	ROBO4_uc010sas.1_Missense_Mutation_p.G44W|ROBO4_uc001qbh.2_Missense_Mutation_p.G79W|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	189	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124794859	124794859	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124794859C>T	uc001qbk.2	-	2	598	c.192G>A	c.(190-192)AGG>AGA	p.R64R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.R64R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	64	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)														---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857077	124857077	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124857077C>A	uc001qbm.3	+	8	1214	c.955C>A	c.(955-957)CAG>AAG	p.Q319K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	319						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)														---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124954765	124954765	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124954765C>T	uc001qbn.2	+	13	1421	c.1170C>T	c.(1168-1170)TCC>TCT	p.S390S	SLC37A2_uc010sau.1_Silent_p.S390S|SLC37A2_uc010sav.1_Silent_p.S15S|SLC37A2_uc001qbp.2_Silent_p.S15S	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	390					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)														---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125547886	125547886	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125547886G>A	uc001qcs.2	-	2	626	c.359C>T	c.(358-360)TCA>TTA	p.S120L	ACRV1_uc001qck.2_Missense_Mutation_p.S50L|ACRV1_uc001qcl.2_Missense_Mutation_p.S50L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S65L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S50L|ACRV1_uc001qcr.2_Missense_Mutation_p.S120L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	120	4 X 4 AA repeats of S-G-E-H.|2-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)														---	---	---	---
PUS3	83480	broad.mit.edu	37	11	125765945	125765945	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125765945A>C	uc001qcy.2	-	2	333	c.235T>G	c.(235-237)TTT>GTT	p.F79V	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	79						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)														---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125769525	125769525	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125769525A>C	uc009zbv.2	+	4	796	c.262A>C	c.(262-264)AGA>CGA	p.R88R	HYLS1_uc001qcx.3_Silent_p.R88R|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	88						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146977	126146977	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126146977G>A	uc001qdi.2	+	10	1160	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	FOXRED1_uc010sbn.1_Silent_p.P201P|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.P184P|FOXRED1_uc010sbq.1_Silent_p.P238P|FOXRED1_uc001qdj.2_Silent_p.P160P|FOXRED1_uc010sbr.1_Silent_p.P357P|FOXRED1_uc001qdk.2_Silent_p.P160P	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	371						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)														---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128786318	128786318	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128786318G>T	uc001qet.2	+	3	1266	c.952G>T	c.(952-954)GCC>TCC	p.A318S	KCNJ5_uc009zck.2_Missense_Mutation_p.A318S|KCNJ5_uc001qew.2_Missense_Mutation_p.A318S	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	318	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)													---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840677	128840677	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128840677T>C	uc009zcp.2	-	22	4389	c.4389A>G	c.(4387-4389)CAA>CAG	p.Q1463Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q422Q|ARHGAP32_uc001qez.2_Silent_p.Q1114Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1463	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129739947	129739947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129739947G>A	uc001qfi.2	-	24	3174	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	NFRKB_uc001qfg.2_Silent_p.T1016T|NFRKB_uc001qfh.2_Silent_p.T1014T|NFRKB_uc010sbw.1_Silent_p.T1001T|NFRKB_uc009zcr.2_Silent_p.T277T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	991					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)														---	---	---	---
ST14	6768	broad.mit.edu	37	11	130068525	130068525	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130068525C>T	uc001qfw.2	+							NM_021978	NP_068813			matriptase						proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)													---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275557	130275557	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130275557T>A	uc001qgg.3	-	9	2924	c.2566A>T	c.(2566-2568)ACT>TCT	p.T856S	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T337S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	856	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319172	130319172	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130319172T>C	uc010scd.1	+	1	304	c.304T>C	c.(304-306)TTC>CTC	p.F102L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)														---	---	---	---
SNX19	399979	broad.mit.edu	37	11	130775969	130775969	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130775969T>C	uc001qgk.3	-	7	2870	c.2322A>G	c.(2320-2322)TTA>TTG	p.L774L	SNX19_uc009zcw.2_Silent_p.L11L|SNX19_uc010sce.1_Silent_p.L154L|SNX19_uc010scf.1_Silent_p.L217L|SNX19_uc010scg.1_Silent_p.L11L|SNX19_uc001qgl.3_Silent_p.L757L|SNX19_uc009zcx.1_RNA	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	774					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)														---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132812874	132812874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132812874G>A	uc001qgs.2	-	1	164	c.114C>T	c.(112-114)TTC>TTT	p.F38F	OPCML_uc001qgu.2_Silent_p.F31F|OPCML_uc010sck.1_Silent_p.F38F|OPCML_uc001qgt.2_Silent_p.F38F|OPCML_uc010scl.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	38					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790109	133790109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181068	134181068	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134181068C>T	uc009zdf.2	+						GLB1L3_uc001qho.3_Intron	NM_001080407	NP_001073876			galactosidase, beta 1 like 3						carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)														---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247988	247988	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:247988G>A	uc001qhw.1	+	1	556	c.550G>A	c.(550-552)GAC>AAC	p.D184N	IQSEC3_uc001qhu.1_Missense_Mutation_p.D184N|IQSEC3_uc001qht.1_Missense_Mutation_p.D269N|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)														---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442787	442787	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:442787G>T	uc001qif.1	-	12	1882	c.1519C>A	c.(1519-1521)CCA>ACA	p.P507T	KDM5A_uc001qie.1_Missense_Mutation_p.P507T|KDM5A_uc010sdn.1_Missense_Mutation_p.P466T|KDM5A_uc010sdo.1_Missense_Mutation_p.P126T	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	507	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
WNK1	65125	broad.mit.edu	37	12	968488	968488	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:968488A>G	uc001qio.3	+	6	1985	c.1478A>G	c.(1477-1479)GAT>GGT	p.D493G	WNK1_uc001qip.3_Missense_Mutation_p.D493G|WNK1_uc001qir.3_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	493					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
HSN2	378465	broad.mit.edu	37	12	977470	977470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:977470C>T	uc001qiq.2	+	1	601	c.475C>T	c.(475-477)CGG>TGG	p.R159W	WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_213655	NP_998820			hereditary sensory neuropathy, type II												0	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994674	994674	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:994674T>A	uc001qio.3	+	19	5211	c.4704T>A	c.(4702-4704)CAT>CAA	p.H1568Q	WNK1_uc001qip.3_Missense_Mutation_p.H1321Q|WNK1_uc001qir.3_Missense_Mutation_p.H741Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1568					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1003798	1003798	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1003798T>C	uc001qio.3	+	23	6087	c.5580T>C	c.(5578-5580)TTT>TTC	p.F1860F	WNK1_uc001qip.3_Silent_p.F1612F|WNK1_uc001qir.3_Silent_p.F1033F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1860					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1006677	1006677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1006677G>A	uc001qio.3	+	25	6785	c.6278G>A	c.(6277-6279)CGC>CAC	p.R2093H	WNK1_uc001qip.3_Missense_Mutation_p.R1845H|WNK1_uc001qir.3_Missense_Mutation_p.R1266H|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2093					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1038990	1038990	+	Silent	SNP	G	A	A	rs144619978	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1038990G>A	uc001qis.1	-	5	457	c.343C>T	c.(343-345)CTG>TTG	p.L115L	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.L38L|RAD52_uc001qiu.1_Silent_p.L115L|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.L115L|RAD52_uc001qix.1_Silent_p.L115L	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	115					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1882031	1882031	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1882031T>C	uc001qjm.2	+	3	392	c.195T>C	c.(193-195)AGT>AGC	p.S65S	ADIPOR2_uc001qjn.2_Silent_p.S65S	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	65	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)															---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1983839	1983839	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1983839C>T	uc001qjp.2	-	18	2040	c.1809G>A	c.(1807-1809)CTG>CTA	p.L603L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	603	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2055377	2055377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2055377T>C	uc001qjx.1	-	9	1929	c.1849A>G	c.(1849-1851)ATG>GTG	p.M617V	DCP1B_uc010sdy.1_Missense_Mutation_p.M515V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	617					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2102471	2102471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2102471A>T	uc001qjx.1	-	3	358	c.278T>A	c.(277-279)TTC>TAC	p.F93Y	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F93Y	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	93					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2719827	2719827	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2719827G>A	uc009zdu.1	+	29	4052	c.3739G>A	c.(3739-3741)GTC>ATC	p.V1247I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1224I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1227I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1227I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qka.1_Missense_Mutation_p.V762I|CACNA1C_uc001qki.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V963I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1247	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2774756	2774756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2774756C>T	uc009zdu.1	+	38	4865	c.4552C>T	c.(4552-4554)CTC>TTC	p.L1518F	CACNA1C_uc009zdv.1_Missense_Mutation_p.L1467F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1457F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1492F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1518F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1490F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1487F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1498F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qki.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L1195F|CACNA1C_uc010sea.1_Missense_Mutation_p.L161F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1518	Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3388233	3388233	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3388233G>A	uc001qlp.2	+	5	477	c.330_splice	c.e5+1	p.K110_splice		NM_006675	NP_006666			tetraspanin 9							integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)															---	---	---	---
EFCAB4B	84766	broad.mit.edu	37	12	3768745	3768745	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3768745C>T	uc001qmj.2	-	8	1319	c.747G>A	c.(745-747)GAG>GAA	p.E249E	EFCAB4B_uc010sen.1_Silent_p.E249E|EFCAB4B_uc010seo.1_Silent_p.E249E|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	249	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---
C12orf4	57102	broad.mit.edu	37	12	4599042	4599042	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4599042A>T	uc001qms.2	-	14	1678	c.1590T>A	c.(1588-1590)TAT>TAA	p.Y530*	C12orf4_uc001qmt.2_Nonsense_Mutation_p.Y530*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	530											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)														---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4654960	4654960	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4654960T>A	uc001qmw.2	+	4	378	c.222T>A	c.(220-222)GGT>GGA	p.G74G	RAD51AP1_uc001qmu.2_Intron|RAD51AP1_uc001qmv.2_Silent_p.G20G|RAD51AP1_uc010sep.1_Intron|RAD51AP1_uc010seq.1_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	74					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4657887	4657887	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4657887T>C	uc001qmw.2	+	7	648	c.492T>C	c.(490-492)GGT>GGC	p.G164G	RAD51AP1_uc001qmu.2_Silent_p.G147G|RAD51AP1_uc001qmv.2_Silent_p.G110G|RAD51AP1_uc010sep.1_Silent_p.G29G|RAD51AP1_uc010seq.1_Silent_p.G29G|RAD51AP1_uc009zeg.2_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	164					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4735822	4735822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4735822G>A	uc001qnb.3	-	4	2475	c.2246C>T	c.(2245-2247)CCT>CTT	p.P749L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	749					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6																		---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4919490	4919490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4919490G>A	uc001qng.2	+	1	1149	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	95						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3															HNSCC(72;0.22)			---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020846	5020846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5020846G>A	uc001qnh.2	+	2	1407	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	101					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021176	5021176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021176T>C	uc001qnh.2	+	2	1737	c.632T>C	c.(631-633)ATC>ACC	p.I211T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	211					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021662	5021662	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021662T>C	uc001qnh.2	+	2	2223	c.1118T>C	c.(1117-1119)GTA>GCA	p.V373A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	373	Selectivity filter (By similarity).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153531	5153531	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5153531C>T	uc001qni.2	+	1	447	c.218C>T	c.(217-219)CCG>CTG	p.P73L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	73	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.|2.					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154130	5154130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154984	5154984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154984C>T	uc001qni.2	+	1	1900	c.1671C>T	c.(1669-1671)AGC>AGT	p.S557S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	557						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5744509	5744509	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5744509G>A	uc001qnm.2	-	17	1697	c.1625C>T	c.(1624-1626)GCC>GTC	p.A542V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	547	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6438737	6438737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6438737C>T	uc001qnu.2	-	10	1390	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.R262H|TNFRSF1A_uc010sey.1_Missense_Mutation_p.R138H|TNFRSF1A_uc010sez.1_Missense_Mutation_p.R262H|TNFRSF1A_uc009zek.2_Missense_Mutation_p.R327H	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	370	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3																		---	---	---	---
VAMP1	6843	broad.mit.edu	37	12	6574081	6574081	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6574081A>G	uc001qok.2	-	4	461	c.315T>C	c.(313-315)TGT>TGC	p.C105C	TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Silent_p.C105C|VAMP1_uc001qol.2_Silent_p.C105C	NM_014231	NP_055046	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 isoform 1	105	Helical; Anchor for type IV membrane protein; (Potential).				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding				0					Botulinum Toxin Type B(DB00042)													---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6639009	6639009	+	Missense_Mutation	SNP	G	A	A	rs145700246	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6639009G>A	uc001qoo.2	+	29	3768	c.3722G>A	c.(3721-3723)CGT>CAT	p.R1241H	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1196H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6664471	6664471	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6664471T>C	uc001qpd.1	-	1	759	c.725A>G	c.(724-726)TAC>TGC	p.Y242C	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpf.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpc.1_Missense_Mutation_p.Y242C	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	242	Potential.					intermediate filament					0																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6692213	6692213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6692213T>C	uc001qpo.2	-	27	4291	c.4127A>G	c.(4126-4128)GAC>GGC	p.D1376G	CHD4_uc001qpn.2_Missense_Mutation_p.D1369G|CHD4_uc001qpp.2_Missense_Mutation_p.D1401G|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1376					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6696652	6696652	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6696652G>A	uc001qpo.2	-	25	3941	c.3777C>T	c.(3775-3777)GAC>GAT	p.D1259D	CHD4_uc001qpn.2_Silent_p.D1252D|CHD4_uc001qpp.2_Silent_p.D1256D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1259					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CD4	920	broad.mit.edu	37	12	6926284	6926284	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6926284G>A	uc001qqv.1	+						CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron|CD4_uc010sfm.1_Intron	NM_000616	NP_000607			CD4 antigen precursor						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
CD4	920	broad.mit.edu	37	12	6928489	6928489	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6928489C>A	uc001qqv.1	+	10	1616	c.1371C>A	c.(1369-1371)CCC>CCA	p.P457P	CD4_uc010sfj.1_Silent_p.P184P|CD4_uc009zfc.1_Silent_p.P278P|CD4_uc010sfk.1_Silent_p.P184P|CD4_uc010sfl.1_Silent_p.P184P|CD4_uc010sfm.1_Silent_p.P184P|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	457	Cytoplasmic (Potential).			Missing: Abolished interaction with SPG21 and induced T-cell activation.	cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
SPSB2	84727	broad.mit.edu	37	12	6981914	6981914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6981914T>C	uc001qrl.2	-	2	308	c.152A>G	c.(151-153)AAA>AGA	p.K51R	SPSB2_uc001qrm.2_Missense_Mutation_p.K51R|SPSB2_uc010sfp.1_Missense_Mutation_p.K51R|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	51	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1																OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	7015022	7015022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7015022C>T	uc001qrt.3	+	3	532	c.140C>T	c.(139-141)CCC>CTC	p.P47L	LRRC23_uc001qrn.1_Missense_Mutation_p.P47L|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.P47L|LRRC23_uc001qrq.2_Missense_Mutation_p.P47L|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Missense_Mutation_p.P47L	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	47										ovary(1)	1																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7043403	7043403	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7043403G>A	uc001qrw.1	+	3	329	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ATN1_uc001qrx.1_Missense_Mutation_p.G31D|ATN1_uc001qry.1_Missense_Mutation_p.G31D	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	31	Nuclear localization signal.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7046281	7046281	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7046281C>T	uc001qrw.1	+	5	2088	c.1851C>T	c.(1849-1851)GTC>GTT	p.V617V	ATN1_uc001qrx.1_Silent_p.V617V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	617					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7047957	7047957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7047957A>G	uc001qrw.1	+	7	3068	c.2831A>G	c.(2830-2832)GAC>GGC	p.D944G	ATN1_uc001qrx.1_Missense_Mutation_p.D944G	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	944					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
PHB2	11331	broad.mit.edu	37	12	7079581	7079581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7079581G>A	uc001qsd.2	-	1	336	c.126C>T	c.(124-126)ACC>ACT	p.T42T	PHB2_uc010sft.1_Silent_p.T42T|PHB2_uc010sfu.1_Silent_p.T42T|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	42	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7087608	7087608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7087608T>G	uc001qsi.2	-	9	1049	c.935A>C	c.(934-936)AAG>ACG	p.K312T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.K206T|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.K170T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	312					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7289485	7289485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7289485C>T	uc001qsr.2	+	7	1267	c.989C>T	c.(988-990)GCA>GTA	p.A330V	CLSTN3_uc001qss.2_Missense_Mutation_p.A342V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	330	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7290632	7290632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7290632G>A	uc001qsr.2	+	8	1570	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CLSTN3_uc001qss.2_Missense_Mutation_p.R443H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	431	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295461	7295461	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295461C>A	uc001qsr.2	+						CLSTN3_uc001qss.2_Intron	NM_014718	NP_055533			calsyntenin 3 precursor						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295559	7295559	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295559C>T	uc001qsr.2	+	11	1913	c.1635C>T	c.(1633-1635)TGC>TGT	p.C545C	CLSTN3_uc001qss.2_Silent_p.C557C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	545	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361760	7361760	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7361760T>C	uc009zfu.1	+	15	2134	c.1554T>C	c.(1552-1554)CGT>CGC	p.R518R	PEX5_uc001qsw.2_Silent_p.R518R|PEX5_uc010sgc.1_Silent_p.R533R|PEX5_uc001qsu.2_Silent_p.R481R|PEX5_uc010sgd.1_Silent_p.R539R|PEX5_uc001qsv.2_Silent_p.R510R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	518	TPR 5.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CD163	9332	broad.mit.edu	37	12	7653746	7653746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7653746A>G	uc001qsz.3	-	3	574	c.446T>C	c.(445-447)GTG>GCG	p.V149A	CD163_uc001qta.3_Missense_Mutation_p.V149A|CD163_uc009zfw.2_Missense_Mutation_p.V149A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	149	SRCR 1.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805322	7805322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7805322G>A	uc001qtb.2	-	3	188	c.154C>T	c.(154-156)CGA>TGA	p.R52*	APOBEC1_uc001qtc.2_Nonsense_Mutation_p.R7*|APOBEC1_uc010sgf.1_Nonsense_Mutation_p.R52*	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	52					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0																		---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8203211	8203211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8203211G>A	uc001qtu.2	+	10	2716	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)														---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212130	8212130	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8212130T>C	uc001qtv.1	-	2	744	c.652A>G	c.(652-654)ACA>GCA	p.T218A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	218	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)														---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8803195	8803195	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8803195C>T	uc001qut.1	-						MFAP5_uc001qus.2_Intron|MFAP5_uc009zge.1_Intron	NM_003480	NP_003471			microfibrillar associated protein 5 precursor							microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)																	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8990998	8990998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8990998T>C	uc001quz.3	+	9	1020	c.922T>C	c.(922-924)TAC>CAC	p.Y308H		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	152						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9004515	9004515	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9004515C>T	uc001quz.3	+	19	2468	c.2370C>T	c.(2368-2370)TTC>TTT	p.F790F	A2ML1_uc001qva.1_Silent_p.F370F|A2ML1_uc010sgm.1_Silent_p.F290F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	634						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9007372	9007372	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9007372G>A	uc001quz.3	+						A2ML1_uc001qva.1_Intron|A2ML1_uc010sgm.1_Intron	NM_144670	NP_653271			alpha-2-macroglobulin-like 1 precursor							extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9089499	9089499	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9089499T>A	uc001qvd.2	+	12	2572	c.2416T>A	c.(2416-2418)TAC>AAC	p.Y806N	PHC1_uc001qve.2_Missense_Mutation_p.Y806N	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	806	FCS-type.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
A2M	2	broad.mit.edu	37	12	9221379	9221379	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9221379A>T	uc001qvk.1	-	34	4436	c.4323T>A	c.(4321-4323)GAT>GAA	p.D1441E	A2M_uc001qvj.1_Missense_Mutation_p.D483E|A2M_uc009zgk.1_Missense_Mutation_p.D1291E	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1441					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
A2M	2	broad.mit.edu	37	12	9262545	9262545	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9262545C>A	uc001qvk.1	-	6	704	c.591G>T	c.(589-591)GAG>GAT	p.E197D	A2M_uc009zgk.1_Missense_Mutation_p.E47D	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
PZP	5858	broad.mit.edu	37	12	9316284	9316284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9316284T>C	uc001qvl.2	-	21	2745	c.2716A>G	c.(2716-2718)ATC>GTC	p.I906V	PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---
CLEC12B	387837	broad.mit.edu	37	12	10163385	10163385	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10163385A>G	uc001qwz.2	+	1	155	c.27A>G	c.(25-27)ACA>ACG	p.T9T	CLEC12B_uc001qww.1_Silent_p.T9T|CLEC12B_uc001qwx.1_Silent_p.T9T|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	9	Cytoplasmic (Potential).|ITIM motif.					integral to membrane|plasma membrane	receptor activity|sugar binding				0																		---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10213735	10213735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10213735T>C	uc001qxa.2	+	6	795	c.182T>C	c.(181-183)GTG>GCG	p.V61A		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	61	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1																		---	---	---	---
CLEC7A	64581	broad.mit.edu	37	12	10278009	10278009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10278009A>G	uc001qxg.2	-	4	566	c.379T>C	c.(379-381)TAT>CAT	p.Y127H	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxh.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxi.2_Missense_Mutation_p.Y127H|CLEC7A_uc001qxj.2_Missense_Mutation_p.Y48H|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.Y127H|CLEC7A_uc010sgy.1_Missense_Mutation_p.Y81H|CLEC7A_uc001qxm.1_Missense_Mutation_p.Y81H	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	127	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1																		---	---	---	---
KLRC4	8302	broad.mit.edu	37	12	10561587	10561587	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10561587C>T	uc001qye.2	-	2	392	c.210G>A	c.(208-210)AAG>AAA	p.K70K	KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	70	Cytoplasmic (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10777265	10777265	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10777265C>T	uc001qys.2	-	8	1432	c.911G>A	c.(910-912)AGC>AAC	p.S304N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	304	Protein kinase.			S -> R (in Ref. 1; AAK34949 and 2; AAT01226).		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
TAS2R13	50838	broad.mit.edu	37	12	11061110	11061110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11061110T>C	uc001qzg.1	-	1	1052	c.788A>G	c.(787-789)TAC>TGC	p.Y263C	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	263	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2																		---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12022490	12022490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12022490G>A	uc001qzz.2	+	5	870	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	199						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)						T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								---	---	---	---
GPRC5D	55507	broad.mit.edu	37	12	13095228	13095228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13095228T>C	uc010shp.1	-	2	930	c.930A>G	c.(928-930)GCA>GCG	p.A310A		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)														---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716607	13716607	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13716607C>T	uc001rbt.2	-	13	3744	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1189	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768096	13768096	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13768096C>T	uc001rbt.2	-	7	1785	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	536	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13828667	13828667	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13828667G>T	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14577340	14577340	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14577340C>T	uc001rbw.2	+	2	649	c.491C>T	c.(490-492)CCC>CTC	p.P164L	ATF7IP_uc010shs.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbu.2_Missense_Mutation_p.P164L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P164L|ATF7IP_uc010sht.1_Missense_Mutation_p.P164L|ATF7IP_uc001rby.3_Missense_Mutation_p.P164L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P164L|ATF7IP_uc001rca.2_Missense_Mutation_p.P164L|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	164					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14649274	14649274	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14649274T>C	uc001rbw.2	+	14	3548	c.3390T>C	c.(3388-3390)CAT>CAC	p.H1130H	ATF7IP_uc001rbx.2_Silent_p.H1129H|ATF7IP_uc001rby.3_Silent_p.H1130H|ATF7IP_uc001rca.2_Silent_p.H1130H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1130					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14804958	14804958	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14804958T>A	uc001rcd.2	-	14	1677	c.1540A>T	c.(1540-1542)ATT>TTT	p.I514F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	514	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14813967	14813967	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14813967T>C	uc001rcd.2	-	11	1449	c.1312A>G	c.(1312-1314)ACC>GCC	p.T438A		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	438	Helical; (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14822720	14822720	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14822720A>G	uc001rcd.2	-	10	1355	c.1218T>C	c.(1216-1218)CCT>CCC	p.P406P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	406	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14849242	14849242	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14849242A>G	uc001rcd.2	-	1	278	c.141T>C	c.(139-141)TTT>TTC	p.F47F	GUCY2C_uc009zhz.2_Silent_p.F47F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	47	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14954271	14954271	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14954271T>C	uc001rci.2	-	2	208	c.47A>G	c.(46-48)AAC>AGC	p.N16S	C12orf60_uc001rcj.3_5'Flank	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	16	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15652375	15652375	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15652375G>T	uc001rcv.1	+	4	683	c.509_splice	c.e4-1	p.D170_splice	PTPRO_uc001rcw.1_Splice_Site_p.D170_splice|PTPRO_uc001rcu.1_Splice_Site_p.D170_splice	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15679131	15679131	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15679131A>C	uc001rcv.1	+	12	2273	c.2099A>C	c.(2098-2100)AAC>ACC	p.N700T	PTPRO_uc001rcw.1_Missense_Mutation_p.N700T	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	700	Fibronectin type-III 7.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15803899	15803899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15803899G>A	uc009zif.2	-	14	1386	c.1292C>T	c.(1291-1293)CCA>CTA	p.P431L	EPS8_uc001rdb.2_Missense_Mutation_p.P431L|EPS8_uc009zig.2_Missense_Mutation_p.P171L|EPS8_uc010shv.1_Missense_Mutation_p.P171L	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	431	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15811494	15811494	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15811494T>C	uc009zif.2	-	11	1057	c.963A>G	c.(961-963)AAA>AAG	p.K321K	EPS8_uc001rdb.2_Silent_p.K321K|EPS8_uc009zig.2_Silent_p.K61K|EPS8_uc010shv.1_Silent_p.K61K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	321					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16035702	16035702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16035702G>A	uc001rdc.3	+	1	415	c.61G>A	c.(61-63)GCC>ACC	p.A21T	STRAP_uc010shw.1_Missense_Mutation_p.A21T|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	21	WD 1.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)																---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19593269	19593269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19593269T>C	uc001ref.2	+	1	662	c.636T>C	c.(634-636)GAT>GAC	p.D212D	AEBP2_uc001ree.2_Silent_p.D212D|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	212	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19615467	19615467	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19615467T>C	uc001ref.2	+	2	721	c.695T>C	c.(694-696)GTA>GCA	p.V232A	AEBP2_uc001ree.2_Missense_Mutation_p.V232A|AEBP2_uc001reg.1_Missense_Mutation_p.V3A	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	232	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19671029	19671029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19671029C>T	uc001ref.2	+	8	1516	c.1490C>T	c.(1489-1491)CCG>CTG	p.P497L	AEBP2_uc001ree.2_Missense_Mutation_p.P497L|AEBP2_uc001reg.1_Missense_Mutation_p.P268L	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	497	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20803459	20803459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20803459T>C	uc001reh.1	+	14	2872	c.2850T>C	c.(2848-2850)GAT>GAC	p.D950D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	950	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)													---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21033815	21033815	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21033815A>T	uc001rek.2	+	11	1484	c.1358A>T	c.(1357-1359)GAT>GTT	p.D453V	SLCO1B3_uc001rel.2_Missense_Mutation_p.D453V|SLCO1B3_uc010sil.1_Missense_Mutation_p.D453V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D278V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	453	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---
LST-3TM12	338821	broad.mit.edu	37	12	21201738	21201738	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21201738T>A	uc010sin.1	+	8	1087	c.1087T>A	c.(1087-1089)TTG>ATG	p.L363M	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L410M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	363						membrane	transporter activity				0																		---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21327601	21327601	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21327601T>A	uc001req.3	+	4	421	c.317T>A	c.(316-318)ATT>AAT	p.I106N		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	106	Helical; Name=3; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377697	21377697	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377697A>G	uc001req.3	+	14	1893	c.1789A>G	c.(1789-1791)ACA>GCA	p.T597A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	597	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21636379	21636379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21636379T>C	uc001rex.2	-	7	979	c.631A>G	c.(631-633)AGG>GGG	p.R211G	RECQL_uc001rey.2_Missense_Mutation_p.R211G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21981972	21981972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21981972G>A	uc001rfi.1	-	29	3609	c.3589C>T	c.(3589-3591)CGT>TGT	p.R1197C	ABCC9_uc001rfh.2_Missense_Mutation_p.R1197C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1161C	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1197	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22069897	22069897	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22069897C>T	uc001rfi.1	-	4	567	c.547G>A	c.(547-549)GTG>ATG	p.V183M	ABCC9_uc001rfh.2_Missense_Mutation_p.V183M|ABCC9_uc001rfj.1_Missense_Mutation_p.V183M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	183	Helical; Name=5; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22078945	22078945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22078945C>T	uc001rfi.1	-	3	357	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ABCC9_uc001rfh.2_Missense_Mutation_p.V113I|ABCC9_uc001rfj.1_Missense_Mutation_p.V113I|ABCC9_uc001rfk.2_Missense_Mutation_p.V113I|ABCC9_uc001rfl.1_Missense_Mutation_p.V113I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	113	Helical; Name=3; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23893932	23893932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23893932C>A	uc001rfw.2	-	5	712	c.610G>T	c.(610-612)GGT>TGT	p.G204C	SOX5_uc001rfx.2_Missense_Mutation_p.G191C|SOX5_uc001rfy.2_Missense_Mutation_p.G191C|SOX5_uc010siv.1_Missense_Mutation_p.G191C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G156C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	204	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23999138	23999138	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23999138A>G	uc001rfw.2	-						SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron|SOX5_uc010siv.1_Intron|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_008871			SRY (sex determining region Y)-box 5 isoform a						transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
MIR920	100126320	broad.mit.edu	37	12	24365362	24365362	+	RNA	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24365362T>G	hsa-mir-920|MI0005712	+			c.8T>G			SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	24736709	24736709	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24736709G>T	uc001rgb.1	-	1		c.394C>A								Homo sapiens cDNA FLJ32894 fis, clone TESTI2004994.																														---	---	---	---
IFLTD1	160492	broad.mit.edu	37	12	25702341	25702341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25702341T>C	uc001rgs.2	-	2	316	c.166A>G	c.(166-168)AGT>GGT	p.S56G	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S77G|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S77G	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	56						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26571996	26571996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26571996A>G	uc001rhg.2	-	50	7513	c.7096T>C	c.(7096-7098)TTC>CTC	p.F2366L	ITPR2_uc009zjg.1_Missense_Mutation_p.F517L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2366	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26709200	26709200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26709200C>T	uc001rhg.2	-	36	5347	c.4930G>A	c.(4930-4932)GAT>AAT	p.D1644N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1644	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26774071	26774071	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26774071A>G	uc001rhg.2	-	26	3864	c.3447T>C	c.(3445-3447)GGT>GGC	p.G1149G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1149	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26864129	26864129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26864129T>A	uc001rhg.2	-	9	1345	c.928A>T	c.(928-930)ACT>TCT	p.T310S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	310	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
C12orf11	55726	broad.mit.edu	37	12	27087529	27087529	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27087529A>G	uc001rhk.3	-	3	797	c.260T>C	c.(259-261)GTT>GCT	p.V87A	C12orf11_uc010sjk.1_Intron	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	87					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)																	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143484	27143484	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27143484A>G	uc010sjl.1	-	6	1005	c.767T>C	c.(766-768)GTC>GCC	p.V256A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	256						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)																	---	---	---	---
MED21	9412	broad.mit.edu	37	12	27179427	27179427	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27179427G>T	uc001rhp.1	+	2	147	c.117G>T	c.(115-117)CAG>CAT	p.Q39H	MED21_uc009zjh.1_Intron	NM_004264	NP_004255	Q13503	MED21_HUMAN	mediator complex subunit 21	39					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity				0	Colorectal(261;0.0847)																	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29485537	29485537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29485537T>C	uc001ris.3	+	11	1409	c.1262T>C	c.(1261-1263)TTC>TCC	p.F421S	FAR2_uc001rit.2_Missense_Mutation_p.F421S|FAR2_uc009zjm.2_Missense_Mutation_p.F324S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	421					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29592296	29592296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29592296T>C	uc001rix.1	-	26	3229	c.3229A>G	c.(3229-3231)AAC>GAC	p.N1077D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1077					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29596436	29596436	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29596436A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29626041	29626041	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29626041A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29630380	29630380	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29630380T>C	uc001rix.1	-	11	1140	c.1140A>G	c.(1138-1140)CCA>CCG	p.P380P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	380	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29665046	29665046	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29665046C>G	uc001rjb.2	-	17	2588	c.2114G>C	c.(2113-2115)AGA>ACA	p.R705T	TMTC1_uc001riz.2_Missense_Mutation_p.R462T|TMTC1_uc001rja.2_Missense_Mutation_p.R549T|TMTC1_uc001riy.2_Missense_Mutation_p.R158T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	813	TPR 9.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)																	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30805933	30805933	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30805933A>G	uc001rjd.2	-	18	2212	c.2042T>C	c.(2041-2043)GTG>GCG	p.V681A	IPO8_uc001rje.1_Missense_Mutation_p.V170A|IPO8_uc010sjt.1_Missense_Mutation_p.V476A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	681					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30869619	30869619	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30869619A>T	uc001rji.1	-						CAPRIN2_uc001rjf.1_Intron|CAPRIN2_uc001rjg.1_Intron|CAPRIN2_uc001rjh.1_Intron|CAPRIN2_uc001rjj.1_Intron|CAPRIN2_uc001rjk.3_Intron|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259			C1q domain containing 1 isoform 1						negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30882246	30882246	+	Missense_Mutation	SNP	C	T	T	rs146283389	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30882246C>T	uc001rji.1	-	8	1869	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R170H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R373H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R40H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	373					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30887988	30887988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30887988A>G	uc001rji.1	-	4	1474	c.723T>C	c.(721-723)AAT>AAC	p.N241N	CAPRIN2_uc001rjf.1_Silent_p.N38N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.N241N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.N241N|CAPRIN2_uc001rjl.3_Silent_p.N241N	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	241					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	31301814	31301814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31301814C>T	uc010sjy.1	-	10	1138	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K						RecName: Full=Ovostatin homolog 1; Flags: Precursor;																														---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31605416	31605416	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31605416A>C	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Intron|DENND5B_uc001rkk.1_Intron	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C12orf35	55196	broad.mit.edu	37	12	32135177	32135177	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32135177A>T	uc001rks.2	+	4	1702	c.1288A>T	c.(1288-1290)ACT>TCT	p.T430S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	430										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32860353	32860353	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32860353C>T	uc001rld.2	+						DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Intron|DNM1L_uc001rlg.2_Intron|DNM1L_uc001rlh.2_Intron|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192			dynamin 1-like isoform 1						cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32993959	32993959	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32993959T>C	uc001rlj.3	-						PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	NM_004572	NP_004563			plakophilin 2 isoform 2b						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33592387	33592387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33592387C>T	uc001rll.1	-	1	368	c.71G>A	c.(70-72)TGC>TAC	p.C24Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	24	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)																	---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34179794	34179794	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:34179794C>A	uc001rlm.2	+	3	1685	c.1366C>A	c.(1366-1368)CTG>ATG	p.L456M		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	456	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)																---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39751199	39751199	+	Missense_Mutation	SNP	T	A	A	rs145427361		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39751199T>A	uc001rly.2	-	9	1402	c.1256A>T	c.(1255-1257)AAT>ATT	p.N419I	KIF21A_uc001rlx.2_Missense_Mutation_p.N419I|KIF21A_uc001rlz.2_Missense_Mutation_p.N419I|KIF21A_uc010skl.1_Missense_Mutation_p.N419I|KIF21A_uc001rma.1_Missense_Mutation_p.N427I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	419	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40677882	40677882	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40677882C>A	uc001rmg.3	+	19	2568	c.2447C>A	c.(2446-2448)TCT>TAT	p.S816Y	LRRK2_uc001rmh.1_Missense_Mutation_p.S438Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327636	41327636	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41327636A>G	uc001rmm.1	+	9	1054	c.941A>G	c.(940-942)AAC>AGC	p.N314S	CNTN1_uc009zjy.1_Missense_Mutation_p.N314S|CNTN1_uc001rmn.1_Missense_Mutation_p.N303S|CNTN1_uc001rmo.2_Missense_Mutation_p.N314S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	314	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41374737	41374737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41374737A>G	uc001rmm.1	+	16	1944	c.1831A>G	c.(1831-1833)AGA>GGA	p.R611G	CNTN1_uc001rmn.1_Missense_Mutation_p.R600G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	611	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41961604	41961604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41961604A>G	uc010skn.1	+	9	958	c.890A>G	c.(889-891)GAA>GGA	p.E297G	PDZRN4_uc001rmq.3_Missense_Mutation_p.E238G|PDZRN4_uc009zjz.2_Missense_Mutation_p.E236G|PDZRN4_uc001rmr.2_Missense_Mutation_p.E123G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	496							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)																---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42512919	42512919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42512919A>G	uc001rms.3	-	3	594	c.369T>C	c.(367-369)TGT>TGC	p.C123C	GXYLT1_uc001rmt.3_Silent_p.C92C	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	123	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42745851	42745851	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42745851A>G	uc001rng.1	+	3	342	c.237A>G	c.(235-237)GGA>GGG	p.G79G	PPHLN1_uc001rmy.2_Silent_p.G97G|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Silent_p.G86G|PPHLN1_uc001rnb.2_Silent_p.G86G|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Silent_p.G79G|PPHLN1_uc001rnf.2_Silent_p.G79G|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	79					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)														---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43846182	43846182	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43846182A>G	uc010skx.1	-	14	1974	c.1974T>C	c.(1972-1974)TGT>TGC	p.C658C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44338087	44338087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44338087T>C	uc001rod.2	+	3	418	c.352T>C	c.(352-354)TTT>CTT	p.F118L	TMEM117_uc001roe.2_Missense_Mutation_p.L47P|TMEM117_uc009zkc.2_Missense_Mutation_p.F118L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	118	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44782428	44782428	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782428G>T	uc001rod.2	+	8	1584	c.1518G>T	c.(1516-1518)ACG>ACT	p.T506T	TMEM117_uc001roe.2_Silent_p.T402T|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46231180	46231180	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46231180A>T	uc001ros.1	+	9	1100	c.1100A>T	c.(1099-1101)GAT>GTT	p.D367V	ARID2_uc001ror.2_Missense_Mutation_p.D367V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.D13V|ARID2_uc001rot.1_Missense_Mutation_p.D13V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	367					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245033	46245033	+	Nonsense_Mutation	SNP	C	T	T	rs139789595		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245033C>T	uc001ros.1	+	15	3127	c.3127C>T	c.(3127-3129)CAA>TAA	p.Q1043*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1043*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q499*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q670*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q377*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1043	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1043*(1)		ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245055	46245055	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245055G>C	uc001ros.1	+	15	3149	c.3149G>C	c.(3148-3150)GGT>GCT	p.G1050A	ARID2_uc001ror.2_Missense_Mutation_p.G1050A|ARID2_uc009zkg.1_Missense_Mutation_p.G506A|ARID2_uc009zkh.1_Missense_Mutation_p.G677A|ARID2_uc001rou.1_Missense_Mutation_p.G384A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1050	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246402	46246402	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46246402T>C	uc001ros.1	+	15	4496	c.4496T>C	c.(4495-4497)CTA>CCA	p.L1499P	ARID2_uc001ror.2_Missense_Mutation_p.L1499P|ARID2_uc009zkg.1_Missense_Mutation_p.L955P|ARID2_uc009zkh.1_Missense_Mutation_p.L1126P|ARID2_uc001rou.1_Missense_Mutation_p.L833P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1499					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46316789	46316789	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46316789G>A	uc001rox.2	-	13	4342	c.4055C>T	c.(4054-4056)GCT>GTT	p.A1352V	SFRS2IP_uc001row.2_Missense_Mutation_p.A1037V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1352					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46320326	46320326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46320326T>C	uc001rox.2	-	11	3445	c.3158A>G	c.(3157-3159)GAA>GGA	p.E1053G	SFRS2IP_uc001row.2_Missense_Mutation_p.E738G|SFRS2IP_uc001roy.1_Missense_Mutation_p.E1127G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1053					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46321589	46321589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46321589A>G	uc001rox.2	-	11	2182	c.1895T>C	c.(1894-1896)GTT>GCT	p.V632A	SFRS2IP_uc001row.2_Missense_Mutation_p.V317A|SFRS2IP_uc001roy.1_Missense_Mutation_p.V706A	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	632					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46756850	46756850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46756850G>A	uc001rpg.2	-	13	1573	c.1133C>T	c.(1132-1134)GCT>GTT	p.A378V	SLC38A2_uc010sli.1_Missense_Mutation_p.A216V|SLC38A2_uc001rph.2_Missense_Mutation_p.A278V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	378	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46764393	46764393	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46764393G>T	uc001rpg.2	-	4	656	c.216C>A	c.(214-216)TCC>TCA	p.S72S	SLC38A2_uc001rph.2_Intron	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	72	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172470	47172470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47172470C>T	uc001rpi.2	-	11	1206	c.807G>A	c.(805-807)ATG>ATA	p.M269I	SLC38A4_uc001rpj.2_Missense_Mutation_p.M269I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	269	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48367266	48367266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48367266A>G	uc001rqu.2	-	54	4569	c.4388T>C	c.(4387-4389)ATT>ACT	p.I1463T	COL2A1_uc001rqt.2_Missense_Mutation_p.I244T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1394T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1463	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48369119	48369119	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48369119G>A	uc001rqu.2	-	51	4048	c.3867C>T	c.(3865-3867)TGC>TGT	p.C1289C	COL2A1_uc001rqt.2_Silent_p.C70C|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.C1220C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1289	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48442746	48442746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48442746A>G	uc001rqx.2	-	14	2023	c.1577T>C	c.(1576-1578)GTG>GCG	p.V526A	SENP1_uc001rqw.2_Missense_Mutation_p.V526A|SENP1_uc001rqy.2_Missense_Mutation_p.V327A|SENP1_uc001rqz.2_Missense_Mutation_p.V327A|SENP1_uc009zkx.2_Missense_Mutation_p.V526A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	526	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)																---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48535570	48535570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48535570A>C	uc001rrc.2	+	16	1630	c.1460A>C	c.(1459-1461)AAG>ACG	p.K487T	PFKM_uc001rra.1_Missense_Mutation_p.K172T|PFKM_uc001rrb.1_Missense_Mutation_p.K558T|PFKM_uc001rrd.2_Missense_Mutation_p.K172T|PFKM_uc001rre.1_Missense_Mutation_p.K487T|PFKM_uc001rrg.1_Missense_Mutation_p.K456T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	487					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49162816	49162816	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49162816A>G	uc001rsh.3	-	20	3945	c.3285T>C	c.(3283-3285)GGT>GGC	p.G1095G	ADCY6_uc001rsj.3_Silent_p.G1095G|ADCY6_uc001rsi.3_Silent_p.G1042G	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	1095	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0																		---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49224275	49224275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49224275G>A	uc001rsm.2	-	17	2531	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	814						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6																		---	---	---	---
FKBP11	51303	broad.mit.edu	37	12	49315835	49315835	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49315835C>T	uc001rsp.2	-	6	657	c.538G>A	c.(538-540)GCC>ACC	p.A180T	FKBP11_uc010sma.1_Missense_Mutation_p.A78T|FKBP11_uc001rsq.3_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	180					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420243	49420243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420243A>G	uc001rta.3	-	48	15506	c.15506T>C	c.(15505-15507)ATT>ACT	p.I5169T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5169					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420661	49420661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420661G>A	uc001rta.3	-	48	15088	c.15088C>T	c.(15088-15090)CGT>TGT	p.R5030C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5030					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
DHH	50846	broad.mit.edu	37	12	49488108	49488108	+	Missense_Mutation	SNP	G	A	A	rs142269288	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49488108G>A	uc001rtf.2	-	1	495	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	63					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
TUBA1B	10376	broad.mit.edu	37	12	49523058	49523058	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49523058G>T	uc001rtm.2	-	3	563	c.342C>A	c.(340-342)ATC>ATA	p.I114I	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.I79I|TUBA1B_uc001rtl.2_Silent_p.I79I|TUBA1B_uc001rtn.2_Intron	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	114					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0																		---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49579012	49579012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49579012G>A	uc009zlf.2	-	4	1409	c.1137C>T	c.(1135-1137)AGC>AGT	p.S379S	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Silent_p.S379S|TUBA1A_uc001rtq.2_Silent_p.S226S|TUBA1A_uc001rtr.2_Silent_p.S226S|TUBA1A_uc009zlg.2_Silent_p.S226S	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	379					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0																		---	---	---	---
C1QL4	338761	broad.mit.edu	37	12	49726989	49726989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49726989C>T	uc001rtz.1	-	2	1276	c.565G>A	c.(565-567)GCG>ACG	p.A189T		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	189	C1q.					collagen					0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937785	49937785	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49937785C>T	uc001ruh.1	+	6	1171	c.911C>T	c.(910-912)ACC>ATC	p.T304I	KCNH3_uc010smj.1_Missense_Mutation_p.T244I	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	304	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49944111	49944111	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49944111A>G	uc001ruh.1	+	10	2177	c.1917A>G	c.(1915-1917)CTA>CTG	p.L639L	KCNH3_uc010smj.1_Silent_p.L579L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	639	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49953259	49953259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49953259G>A	uc001ruk.1	-	12	1254	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	MCRS1_uc001rui.1_Missense_Mutation_p.R368W|MCRS1_uc001ruj.1_Missense_Mutation_p.R342W|MCRS1_uc001rul.1_Missense_Mutation_p.R355W|MCRS1_uc009zlj.1_Missense_Mutation_p.R164W|MCRS1_uc001rum.1_Missense_Mutation_p.R342W	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	355					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49958615	49958615	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49958615G>A	uc001ruk.1	-	5	543	c.352C>T	c.(352-354)CGT>TGT	p.R118C	MCRS1_uc001rui.1_Missense_Mutation_p.R131C|MCRS1_uc001ruj.1_Missense_Mutation_p.R105C|MCRS1_uc001rul.1_Missense_Mutation_p.R118C|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Missense_Mutation_p.R105C|MCRS1_uc001run.1_Missense_Mutation_p.R118C	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	118	Nuclear localization signal (Potential).				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50040738	50040738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50040738G>A	uc001ruv.1	-	25	3160	c.2926C>T	c.(2926-2928)CGG>TGG	p.R976W	FMNL3_uc001ruw.1_Missense_Mutation_p.R925W|FMNL3_uc001rut.1_Missense_Mutation_p.R542W|FMNL3_uc001ruu.1_Missense_Mutation_p.R826W	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	976					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50044495	50044495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50044495C>T	uc001ruv.1	-	17	2198	c.1964G>A	c.(1963-1965)GGC>GAC	p.G655D	FMNL3_uc001ruw.1_Missense_Mutation_p.G604D|FMNL3_uc001rut.1_Missense_Mutation_p.G221D|FMNL3_uc001ruu.1_Missense_Mutation_p.G505D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	655	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50190678	50190678	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50190678G>C	uc009zlk.2	-	8	1167	c.965C>G	c.(964-966)GCC>GGC	p.A322G	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	318	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
FAIM2	23017	broad.mit.edu	37	12	50291301	50291301	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50291301C>T	uc001rvj.1	-	4	525	c.380_splice	c.e4+1	p.C127_splice	FAIM2_uc001rvi.1_Splice_Site_p.C81_splice|FAIM2_uc001rvk.1_Splice_Site	NM_012306	NP_036438			Fas apoptotic inhibitory molecule 2						anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50399142	50399142	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50399142T>C	uc001rvt.2	-	6	632	c.322A>G	c.(322-324)ATG>GTG	p.M108V	RACGAP1_uc009zlm.1_Missense_Mutation_p.M108V|RACGAP1_uc001rvs.2_Missense_Mutation_p.M108V|RACGAP1_uc001rvu.2_Missense_Mutation_p.M108V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	108	Potential.|Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1																		---	---	---	---
ACCN2	41	broad.mit.edu	37	12	50475044	50475044	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50475044T>C	uc001rvw.2	+	11	1608	c.1379T>C	c.(1378-1380)GTC>GCC	p.V460A	ACCN2_uc001rvv.2_Missense_Mutation_p.V506A|ACCN2_uc009zln.2_Missense_Mutation_p.V251A|ACCN2_uc009zlo.2_Missense_Mutation_p.V460A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	460	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)													---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51086792	51086792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51086792T>C	uc001rwv.2	+	14	1871	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	DIP2B_uc009zlt.2_Missense_Mutation_p.F2S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	572						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6																		---	---	---	---
METTL7A	25840	broad.mit.edu	37	12	51319022	51319022	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51319022C>T	uc001rxb.2	+	1	489	c.201C>T	c.(199-201)GGC>GGT	p.G67G	METTL7A_uc010smv.1_Silent_p.G67G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	67						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0																		---	---	---	---
LETMD1	25875	broad.mit.edu	37	12	51451915	51451915	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51451915A>G	uc001rxm.2	+						LETMD1_uc001rxl.2_Intron|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Intron|LETMD1_uc001rxn.2_Intron|LETMD1_uc001rxo.2_Intron|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231			LETM1 domain containing 1 isoform 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2																		---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52078069	52078069	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52078069A>T	uc001ryw.2	+	3	566	c.388A>T	c.(388-390)ATA>TTA	p.I130L	SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	130	Helical; Name=S1 of repeat I; (Potential).|I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)													---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52308233	52308233	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52308233C>T	uc001rzj.2	+	6	919	c.636C>T	c.(634-636)CGC>CGT	p.R212R	ACVRL1_uc001rzk.2_Silent_p.R212R|ACVRL1_uc010snm.1_Silent_p.R38R	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	212	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)									Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
GRASP	160622	broad.mit.edu	37	12	52407946	52407946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52407946T>C	uc001rzo.1	+	7	699	c.643T>C	c.(643-645)TAC>CAC	p.Y215H	GRASP_uc001rzp.1_Missense_Mutation_p.Y72H	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	215	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52449951	52449951	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52449951G>A	uc001rzs.2	+						NR4A1_uc010sno.1_Intron|NR4A1_uc001rzt.2_Intron|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126			nuclear receptor subfamily 4, group A, member 1						nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841348	52841348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52841348G>A	uc001sak.2	-	8	1482	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	478	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865209	52865209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865209T>C	uc001sal.3	-	4	956	c.908A>G	c.(907-909)GAT>GGT	p.D303G		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	303	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865984	52865984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865984C>T	uc001sal.3	-	2	669	c.621G>A	c.(619-621)AGG>AGA	p.R207R		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	207	Rod.|Linker 1.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52884922	52884922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52884922C>T	uc001sam.2	-	3	999	c.790G>A	c.(790-792)GAG>AAG	p.E264K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	264	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911395	52911395	+	Silent	SNP	G	A	A	rs149467228	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52911395G>A	uc001san.2	-	5	1234	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	KRT5_uc009zmh.2_Silent_p.A357A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	357	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53040608	53040608	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53040608T>C	uc001sat.2	-	7	1418	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	462	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)														---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53086570	53086570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53086570A>C	uc001saw.2	-	6	1204	c.1175T>G	c.(1174-1176)CTG>CGG	p.L392R	KRT77_uc009zmi.2_Missense_Mutation_p.L150R	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	392	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1																		---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53165877	53165877	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53165877C>T	uc001sax.2	-	5	1191	c.1137_splice	c.e5+1	p.K379_splice		NM_015848	NP_056932			keratin 76						cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2																		---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227765	53227765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53227765C>T	uc001sbb.2	-	1	313	c.280G>A	c.(280-282)GCA>ACA	p.A94T		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	94	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647656	53647656	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53647656C>T	uc001sci.1	+	2	1228	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	MFSD5_uc001sch.1_Missense_Mutation_p.A453V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	346	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53703514	53703514	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53703514G>T	uc001scr.3	-						AAAS_uc001scs.3_Intron	NM_015665	NP_056480			achalasia, adrenocortical insufficiency,						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1																		---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879982	53879982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53879982C>T	uc001sdm.1	-	5	678	c.580G>A	c.(580-582)GCC>ACC	p.A194T	MAP3K12_uc001sdn.1_Missense_Mutation_p.A227T	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	194	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899798	53899798	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899798T>C	uc001sdo.2	+	9	1455	c.967T>C	c.(967-969)TGC>CGC	p.C323R	TARBP2_uc001sdp.2_Missense_Mutation_p.C302R|TARBP2_uc001sdq.2_Missense_Mutation_p.C179R|TARBP2_uc001sdr.2_Missense_Mutation_p.C179R|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Missense_Mutation_p.C302R|TARBP2_uc001sdu.2_Missense_Mutation_p.C179R|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	323	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899914	53899914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899914C>T	uc001sdo.2	+	9	1571	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	TARBP2_uc001sdp.2_Silent_p.I340I|TARBP2_uc001sdq.2_Silent_p.I217I|TARBP2_uc001sdr.2_Silent_p.I217I|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.I340I|TARBP2_uc001sdu.2_Silent_p.I217I|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	361	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53901178	53901178	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53901178C>A	uc001sdw.1	-	1	245	c.81G>T	c.(79-81)CAG>CAT	p.Q27H		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	27					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0																		---	---	---	---
ATP5G2	517	broad.mit.edu	37	12	54063713	54063713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54063713A>G	uc009znc.2	-	4	760	c.59T>C	c.(58-60)CTG>CCG	p.L20P	ATP5G2_uc001sec.2_Missense_Mutation_p.L77P|ATP5G2_uc001sed.2_Missense_Mutation_p.L36P	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	20					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1																		---	---	---	---
HOXC12	3228	broad.mit.edu	37	12	54348796	54348796	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54348796A>G	uc010soq.1	+	1	83	c.83A>G	c.(82-84)AAC>AGC	p.N28S		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	28					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54797044	54797044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54797044G>A	uc001sga.2	-	18	1909	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	614	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																		---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54922129	54922129	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54922129A>T	uc001sgc.3	+	22	2553	c.2474A>T	c.(2473-2475)AAC>ATC	p.N825I	NCKAP1L_uc010sox.1_Missense_Mutation_p.N367I|NCKAP1L_uc010soy.1_Missense_Mutation_p.N775I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	825					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54968964	54968964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54968964C>T	uc001sgd.1	+	11	1313	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	PDE1B_uc010soz.1_Missense_Mutation_p.R246C|PDE1B_uc010spa.1_Missense_Mutation_p.R342C|PDE1B_uc001sgf.2_Missense_Mutation_p.R246C|PDE1B_uc001sge.2_Missense_Mutation_p.R363C|PDE1B_uc009znq.2_Missense_Mutation_p.R179C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	383	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
PPP1R1A	5502	broad.mit.edu	37	12	54974788	54974788	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54974788T>C	uc001sgg.2	-	6	621	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	150	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641092	55641092	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641092A>G	uc010spg.1	+	1	21	c.21A>G	c.(19-21)GTA>GTG	p.V7V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641717	55641717	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641717T>C	uc010spg.1	+	1	646	c.646T>C	c.(646-648)TAC>CAC	p.Y216H		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55714599	55714599	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55714599A>C	uc010spi.1	+	1	216	c.216A>C	c.(214-216)ACA>ACC	p.T72T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715169	55715169	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715169A>G	uc010spi.1	+	1	786	c.786A>G	c.(784-786)GCA>GCG	p.A262A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715233	55715233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715233A>G	uc010spi.1	+	1	850	c.850A>G	c.(850-852)AAC>GAC	p.N284D		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56091226	56091226	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56091226C>T	uc001shh.2	-						ITGA7_uc001shg.2_Intron|ITGA7_uc010sps.1_Intron|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Intron	NM_001144996	NP_001138468			integrin alpha 7 isoform 1 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
BLOC1S1	2647	broad.mit.edu	37	12	56112932	56112932	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56112932G>T	uc009zny.1	+	3	292	c.276G>T	c.(274-276)CAG>CAT	p.Q92H	BLOC1S1_uc001shi.2_Missense_Mutation_p.Q64H|BLOC1S1_uc001shj.3_Missense_Mutation_p.Q92H|RDH5_uc010spt.1_5'Flank|RDH5_uc010spu.1_5'Flank|RDH5_uc001shk.2_5'Flank|RDH5_uc001shl.2_5'Flank			P78537	BL1S1_HUMAN	RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;	92					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding				0																		---	---	---	---
RDH5	5959	broad.mit.edu	37	12	56115638	56115638	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56115638T>A	uc001shk.2	+	3	659	c.476T>A	c.(475-477)ATC>AAC	p.I159N	BLOC1S1_uc001shj.3_3'UTR|RDH5_uc010spt.1_Missense_Mutation_p.I159N|RDH5_uc010spu.1_Missense_Mutation_p.I62N|RDH5_uc001shl.2_Missense_Mutation_p.I159N	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	159					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384499	56384499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56384499G>A	uc001siv.2	+	4	466	c.349G>A	c.(349-351)GAA>AAA	p.E117K	RAB5B_uc001siw.2_Missense_Mutation_p.E117K|RAB5B_uc009zog.2_Missense_Mutation_p.E57K|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56478899	56478899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56478899G>A	uc001sjh.2	+	3	548	c.355G>A	c.(355-357)GTC>ATC	p.V119I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V60I|ERBB3_uc001sjg.2_Missense_Mutation_p.V119I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	119	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56493660	56493660	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56493660C>A	uc001sjh.2	+	25	3169	c.2976C>A	c.(2974-2976)CCC>CCA	p.P992P	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Silent_p.P349P|ERBB3_uc010sqc.1_Silent_p.P933P|ERBB3_uc009zok.2_Silent_p.P257P|ERBB3_uc001sjk.2_Silent_p.P233P|ERBB3_uc001sjl.2_Silent_p.P112P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	992	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56526307	56526307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56526307C>T	uc001sjq.2	+	9	1137	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	ESYT1_uc001sjr.2_Missense_Mutation_p.R363C	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	363	C2 1.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56530569	56530569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56530569G>A	uc001sjq.2	+	16	1724	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T	ESYT1_uc001sjr.2_Silent_p.T568T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	558	C2 2.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531271	56531271	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56531271T>C	uc001sjq.2	+						ESYT1_uc001sjr.2_Intron	NM_015292	NP_056107			extended synaptotagmin-like protein 1							integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56625260	56625260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56625260G>T	uc010sqj.1	+	4	459	c.202G>T	c.(202-204)GGC>TGC	p.G68C	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.G68C	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	68	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56630717	56630717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56630717G>A	uc010sqj.1	+	11	1467	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	SLC39A5_uc010sqk.1_Missense_Mutation_p.A404T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	404	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56719213	56719213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56719213T>C	uc001skx.2	-	9	1758	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D462G|PAN2_uc001sky.2_Missense_Mutation_p.D462G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	462					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811707	56811707	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56811707A>G	uc001slf.2	-	28	3708	c.3540T>C	c.(3538-3540)GAT>GAC	p.D1180D		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1180					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56822332	56822332	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56822332C>T	uc001slf.2	-	12	1576	c.1408_splice	c.e12+1	p.N470_splice	TIMELESS_uc001slg.2_Splice_Site_p.N469_splice	NM_003920	NP_003911			timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396732	57396732	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57396732C>A	uc001sml.1	-	2	2056	c.1970G>T	c.(1969-1971)GGG>GTG	p.G657V	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1																		---	---	---	---
TMEM194A	23306	broad.mit.edu	37	12	57466637	57466637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57466637G>A	uc001smy.2	-	2	232	c.186C>T	c.(184-186)GCC>GCT	p.A62A	TMEM194A_uc001smx.2_Silent_p.A62A|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	62						integral to membrane					0																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57550055	57550055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57550055G>A	uc001snd.2	+	9	1872	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	469	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57553773	57553773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57553773T>C	uc001snd.2	+	12	2430	c.1964T>C	c.(1963-1965)GTG>GCG	p.V655A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	655	LDL-receptor class B 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57561277	57561277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57561277T>C	uc001snd.2	+	19	3431	c.2965T>C	c.(2965-2967)TGT>CGT	p.C989R	LRP1_uc009zph.1_RNA|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	989	Extracellular (Potential).|LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573210	57573210	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57573210G>A	uc001snd.2	+	29	5303	c.4837G>A	c.(4837-4839)GAC>AAC	p.D1613N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1613	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638744	57638744	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638744G>A	uc001snp.2	-	8	870	c.675C>T	c.(673-675)AAC>AAT	p.N225N	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.N186N|STAC3_uc010srm.1_Silent_p.N39N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	225					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638988	57638988	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638988C>A	uc001snp.2	-	7	805	c.610G>T	c.(610-612)GCA>TCA	p.A204S	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.A165S|STAC3_uc010srm.1_Missense_Mutation_p.A18S	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	204					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57865375	57865375	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57865375G>A	uc001snx.2	+	12	2930	c.2852G>A	c.(2851-2853)GGC>GAC	p.G951D	GLI1_uc009zpq.2_Missense_Mutation_p.G823D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	951					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---
MARS	4141	broad.mit.edu	37	12	57908808	57908808	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57908808C>T	uc001sog.2	+	17	2194	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.P490L|MARS_uc001soh.1_Missense_Mutation_p.P119L	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	724					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)													---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57963431	57963431	+	Missense_Mutation	SNP	C	T	T	rs121434444		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994595	57994595	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57994595T>C	uc001sou.2	+	8	946	c.815T>C	c.(814-816)TTT>TCT	p.F272S	PIP4K2C_uc001sot.2_Missense_Mutation_p.F272S|PIP4K2C_uc010srs.1_Missense_Mutation_p.F254S|PIP4K2C_uc010srt.1_Missense_Mutation_p.F224S	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)																	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58109590	58109590	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58109590C>T	uc001spj.2	+	6	686	c.627C>T	c.(625-627)CGC>CGT	p.R209R	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.R209R|OS9_uc001spl.2_Silent_p.R209R|OS9_uc001spm.2_Silent_p.R209R|OS9_uc001spn.2_Silent_p.R209R|OS9_uc010sry.1_Silent_p.R176R|OS9_uc010srz.1_Silent_p.R150R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	209					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
FAM119B	25895	broad.mit.edu	37	12	58174222	58174222	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58174222C>A	uc001sqg.2	+	3	599	c.474C>A	c.(472-474)ACC>ACA	p.T158T	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	158	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XRCC6BP1	91419	broad.mit.edu	37	12	58335598	58335598	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58335598G>A	uc001sqp.2	+	1	154	c.114G>A	c.(112-114)CAG>CAA	p.Q38Q		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	38					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1																		---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59282123	59282123	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59282123T>G	uc001sqr.2	-	7	1181	c.935A>C	c.(934-936)AAG>ACG	p.K312T	LRIG3_uc009zqh.2_Missense_Mutation_p.K252T|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	312	LRR 11.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)															---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62148809	62148809	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62148809C>T	uc001sqw.2	-						FAM19A2_uc001sqv.2_Intron|FAM19A2_uc001sqx.2_Intron|FAM19A2_uc001sqy.2_Intron	NM_178539	NP_848634			family with sequence similarity 19 (chemokine							cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)														---	---	---	---
MON2	23041	broad.mit.edu	37	12	62949898	62949898	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62949898C>T	uc001sre.2	+	25	3726	c.3335C>T	c.(3334-3336)GCT>GTT	p.A1112V	MON2_uc009zqj.2_Missense_Mutation_p.A1112V|MON2_uc010ssl.1_Missense_Mutation_p.A1040V|MON2_uc010ssm.1_Missense_Mutation_p.A1089V|MON2_uc010ssn.1_Missense_Mutation_p.A1112V|MON2_uc001srf.2_Missense_Mutation_p.A875V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1113					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64536071	64536071	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64536071A>T	uc010ssp.1	+						SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813			SLIT-ROBO Rho GTPase activating protein 1						axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)														---	---	---	---
C12orf56	115749	broad.mit.edu	37	12	64746772	64746772	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64746772A>G	uc001ssa.3	-	2	317	c.317T>C	c.(316-318)ATC>ACC	p.I106T	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	106											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)														---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64878159	64878159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)														---	---	---	---
GNS	2799	broad.mit.edu	37	12	65110533	65110533	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65110533T>G	uc001ssg.3	-	14	1817	c.1647A>C	c.(1645-1647)AAA>AAC	p.K549N	GNS_uc001ssf.2_Missense_Mutation_p.K493N|GNS_uc010ssq.1_Missense_Mutation_p.K581N|GNS_uc010ssr.1_Missense_Mutation_p.K529N	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	549						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)														---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69202995	69202995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69202995T>C	uc001sui.2	+	2	309	c.22T>C	c.(22-24)TGC>CGC	p.C8R	MDM2_uc009zri.2_Missense_Mutation_p.C8R|MDM2_uc009zqx.2_Missense_Mutation_p.C8R|MDM2_uc009zqw.2_Missense_Mutation_p.C8R|MDM2_uc001suk.2_Missense_Mutation_p.C8R|MDM2_uc009zqy.1_5'UTR|MDM2_uc001sun.3_5'UTR|MDM2_uc009zqz.2_Missense_Mutation_p.C2R|MDM2_uc009zra.2_Missense_Mutation_p.C2R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_5'UTR|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_5'UTR|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_5'UTR|MDM2_uc009zrg.2_5'UTR|MDM2_uc009zrh.2_5'UTR	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	2	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)					A		sarcoma|glioma|colorectal|other								---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69652831	69652831	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69652831C>T	uc001sut.3	+	6	1266	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	CPSF6_uc001suu.3_Nonsense_Mutation_p.R423*|CPSF6_uc010stk.1_Nonsense_Mutation_p.R17*	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	386	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)															---	---	---	---
LYZ	4069	broad.mit.edu	37	12	69742245	69742245	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69742245G>T	uc001suw.2	+	1	112	c.57G>T	c.(55-57)AAG>AAT	p.K19N		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	19					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)															---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968696	69968696	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69968696T>C	uc001suy.2	+	10	1998	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	FRS2_uc001suz.2_Silent_p.S496S|FRS2_uc009zrj.2_Silent_p.S496S|FRS2_uc009zrk.2_Silent_p.S496S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70149411	70149411	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70149411T>C	uc001svp.2	+	2	718	c.271T>C	c.(271-273)TTA>CTA	p.L91L	RAB3IP_uc001svl.1_Silent_p.L75L|RAB3IP_uc001svm.2_Silent_p.L75L|RAB3IP_uc001svn.2_Silent_p.L75L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L91L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	91					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71050594	71050594	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71050594T>A	uc001swi.1	-	13	2186	c.1770A>T	c.(1768-1770)GCA>GCT	p.A590A	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Silent_p.A345A|PTPRR_uc009zrs.2_Silent_p.A439A|PTPRR_uc010stq.1_Silent_p.A478A	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	590	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).|Substrate binding (By similarity).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)														---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72024378	72024378	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72024378A>C	uc001swo.2	-	18	4083	c.3724_splice	c.e18+1	p.E1242_splice		NM_144982	NP_659419			proline/serine-rich coiled-coil 2						RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72265950	72265950	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72265950T>C	uc001swu.2	+	2	204	c.195_splice	c.e2+2	p.K65_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc010stt.1_Splice_Site_p.K51_splice|TBC1D15_uc001swv.2_Splice_Site_p.K65_splice|TBC1D15_uc001sww.2_Splice_Site	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72316783	72316783	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72316783T>C	uc001swu.2	+	18	1950	c.1941T>C	c.(1939-1941)TGT>TGC	p.C647C	TBC1D15_uc010stt.1_Silent_p.C616C|TBC1D15_uc001swv.2_Silent_p.C630C|TBC1D15_uc001sww.2_Silent_p.C379C	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	625							protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667178	72667178	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72667178G>T	uc001sxa.2	+	1	650	c.620G>T	c.(619-621)GGT>GTT	p.G207V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	207	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76772266	76772266	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76772266A>T	uc001sye.1	-	16	2175	c.1695T>A	c.(1693-1695)GAT>GAA	p.D565E	OSBPL8_uc001syf.1_Missense_Mutation_p.D523E|OSBPL8_uc001syg.1_Missense_Mutation_p.D523E|OSBPL8_uc001syh.1_Missense_Mutation_p.D540E	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	565					lipid transport		lipid binding			ovary(1)	1																		---	---	---	---
CSRP2	1466	broad.mit.edu	37	12	77259935	77259935	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77259935G>C	uc001syl.1	-	2	189	c.106C>G	c.(106-108)CTC>GTC	p.L36V		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449736	77449736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449736G>T	uc001sym.3	-	3	504	c.268C>A	c.(268-270)CTC>ATC	p.L90I	E2F7_uc001syn.2_Missense_Mutation_p.L90I	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	90					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449893	77449893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449893A>T	uc001sym.3	-	3	347	c.111T>A	c.(109-111)GAT>GAA	p.D37E	E2F7_uc001syn.2_Missense_Mutation_p.D37E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	37					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400965	78400965	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400965A>G	uc001syp.2	+	8	1820	c.1647A>G	c.(1645-1647)AAA>AAG	p.K549K	NAV3_uc001syo.2_Silent_p.K549K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78516145G>A	uc001syp.2	+	16	4348	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78570943	78570943	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78570943C>T	uc001syp.2	+	27	5320	c.5147C>T	c.(5146-5148)GCC>GTC	p.A1716V	NAV3_uc001syo.2_Missense_Mutation_p.A1716V|NAV3_uc010sub.1_Missense_Mutation_p.A1195V|NAV3_uc009zsf.2_Missense_Mutation_p.A547V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1716						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
MIR1252	100302136	broad.mit.edu	37	12	79813047	79813047	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:79813047A>G	hsa-mir-1252|MI0006434	+			c.11A>G			SYT1_uc001sys.2_Intron|SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80750253	80750253	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80750253T>C	uc009zsg.1	+						uc001szd.2_5'Flank					RecName: Full=Uncharacterized protein C12orf64;																														---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81537029	81537029	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81537029A>G	uc001szl.1	+						ACSS3_uc001szm.1_Intron	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81833805	81833805	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81833805A>G	uc001szo.1	-	7	752	c.591T>C	c.(589-591)GTT>GTC	p.V197V	PPFIA2_uc010sue.1_Silent_p.V97V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	123										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83251004	83251004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83251004G>A	uc001szt.2	+	2	731	c.299G>A	c.(298-300)GGT>GAT	p.G100D	TMTC2_uc001szr.1_Missense_Mutation_p.G100D|TMTC2_uc001szs.1_Missense_Mutation_p.G100D|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	100	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83379836	83379836	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83379836G>A	uc001szt.2	+						TMTC2_uc001szs.1_Missense_Mutation_p.R694H|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801			transmembrane and tetratricopeptide repeat							endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83526060	83526060	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83526060C>T	uc001szt.2	+	12	2835	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	TMTC2_uc010suk.1_Silent_p.N556N	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	801	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85449486	85449486	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85449486A>G	uc001tac.2	+	8	1026	c.915A>G	c.(913-915)CCA>CCG	p.P305P	LRRIQ1_uc001tab.1_Silent_p.P305P|LRRIQ1_uc001taa.1_Silent_p.P280P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	305	IQ 1.|Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85517836	85517836	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85517836T>C	uc001tac.2	+						LRRIQ1_uc001tab.1_Intron	NM_001079910	NP_001073379			leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88454773	88454773	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88454773T>C	uc001tar.2	-	47	6702	c.6358_splice	c.e47-1	p.S2120_splice	CEP290_uc001taq.2_Splice_Site_p.S1180_splice	NM_025114	NP_079390			centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88584371	88584371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88584371C>T	uc001tau.2	+	12	1898	c.1678C>T	c.(1678-1680)CCC>TCC	p.P560S		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	560	TPR 4.					integral to membrane	binding			skin(1)	1																		---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917932	89917932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89917932C>A	uc001tbd.2	-	1	604	c.395G>T	c.(394-396)AGG>ATG	p.R132M	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.R129M|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	132	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0																OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	89997947	89997947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89997947G>A	uc001tbh.2	-	15	2800	c.2619C>T	c.(2617-2619)GGC>GGT	p.G873G	ATP2B1_uc001tbg.2_Silent_p.G873G|ATP2B1_uc001tbf.2_Silent_p.G543G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	873	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCN	1634	broad.mit.edu	37	12	91539849	91539849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91539849C>T	uc001tbs.2	-	7	1160	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	DCN_uc001tbo.2_Missense_Mutation_p.G247R|DCN_uc001tbp.2_Missense_Mutation_p.G209R|DCN_uc001tbq.2_Missense_Mutation_p.G169R|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.G356R|DCN_uc001tbu.2_Missense_Mutation_p.G356R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	356	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4																		---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975728	94975728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94975728T>C	uc001tdj.2	-	2	783	c.665A>G	c.(664-666)CAC>CGC	p.H222R	TMCC3_uc001tdi.2_Missense_Mutation_p.H191R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	222						integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95656842	95656842	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95656842C>T	uc001tdz.2	+	4	524	c.419C>T	c.(418-420)GCA>GTA	p.A140V	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.A92V|VEZT_uc001tdt.2_Missense_Mutation_p.A92V|VEZT_uc009zsz.1_Missense_Mutation_p.A140V|VEZT_uc001tdv.2_Missense_Mutation_p.A109V|VEZT_uc001tdw.1_Missense_Mutation_p.A92V|VEZT_uc009zta.1_Missense_Mutation_p.A92V	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	140	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95668625	95668625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95668625C>T	uc001tdz.2	+	7	1061	c.956C>T	c.(955-957)GCA>GTA	p.A319V	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	319						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96288811	96288811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96288811G>A	uc001tek.1	-	8	962	c.728C>T	c.(727-729)GCA>GTA	p.A243V		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	243										skin(1)	1																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98927983	98927983	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98927983C>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Missense_Mutation_p.R650C	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98928112	98928112	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98928112A>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Nonsense_Mutation_p.K693*	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
GOLGA2B	55592	broad.mit.edu	37	12	100551023	100551023	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100551023C>T	uc001tgs.2	-	5	746	c.302G>A	c.(301-303)CGC>CAC	p.R101H	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101H|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100729611	100729611	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100729611A>G	uc001thn.2	+	16	2002	c.1952A>G	c.(1951-1953)AAC>AGC	p.N651S	SCYL2_uc001thm.1_Missense_Mutation_p.N651S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	651					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100813785	100813785	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100813785G>A	uc010svi.1	+	12	1931	c.1618G>A	c.(1618-1620)GCG>ACG	p.A540T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A490T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	540	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	100995406	100995406	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100995406A>T	uc001thu.2	+						GAS2L3_uc009zty.2_Intron|GAS2L3_uc001thv.2_Intron	NM_174942	NP_777602			growth arrest-specific 2 like 3						cell cycle arrest					skin(1)	1																		---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101336299	101336299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101336299C>A	uc010svm.1	+	5	1014	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q113K|ANO4_uc001thx.2_Missense_Mutation_p.Q148K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	148	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603516	101603516	+	Silent	SNP	G	A	A	rs141426258	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101603516G>A	uc001thz.3	-	1	501	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	37	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101693535	101693535	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101693535T>A	uc001tia.1	+	13	1662	c.1506T>A	c.(1504-1506)TCT>TCA	p.S502S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	502					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101713323	101713323	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101713323G>T	uc001tia.1	+	23	2895	c.2739G>T	c.(2737-2739)AAG>AAT	p.K913N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	913					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101773254	101773254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101773254A>G	uc001tia.1	+	57	7658	c.7502A>G	c.(7501-7503)CAA>CGA	p.Q2501R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2501					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108316	102108316	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108316C>A	uc001tin.2	+	3	679	c.456C>A	c.(454-456)CGC>CGA	p.R152R	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.R152R	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	152					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108321	102108321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108321G>A	uc001tin.2	+	3	684	c.461G>A	c.(460-462)GGA>GAA	p.G154E	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G154E	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	154	Helical; (Potential).				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102151087	102151087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102151087A>C	uc001tit.2	-	18	3516	c.3337T>G	c.(3337-3339)TTT>GTT	p.F1113V		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1113					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC53	51019	broad.mit.edu	37	12	102439888	102439888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102439888C>T	uc010svw.1	-	3	319	c.160G>A	c.(160-162)GAC>AAC	p.D54N	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.D54N	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	54	Potential.					WASH complex	protein binding				0																		---	---	---	---
C12orf48	55010	broad.mit.edu	37	12	102558392	102558392	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102558392G>A	uc001tjf.2	+						C12orf48_uc001tje.2_Nonsense_Mutation_p.W143*|C12orf48_uc001tjg.2_Intron|C12orf48_uc010swa.1_Intron|C12orf48_uc001tjh.2_Intron|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Intron|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385			hypothetical protein LOC55010						response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104179252	104179252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104179252T>A	uc010swe.1	-	12	1231	c.1190A>T	c.(1189-1191)GAT>GTT	p.D397V		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	397							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TDG	6996	broad.mit.edu	37	12	104373771	104373771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104373771G>A	uc001tkg.2	+	3	552	c.329G>A	c.(328-330)CGT>CAT	p.R110H	TDG_uc010swh.1_Missense_Mutation_p.R110H|TDG_uc009zuk.2_Missense_Mutation_p.R106H|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	110					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)									BER_DNA_glycosylases					---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104682799	104682799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104682799G>A	uc010swk.1	+	4	417	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.G34D|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_5'UTR|TXNRD1_uc010swq.1_Missense_Mutation_p.G32D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_5'Flank	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	132	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0																		---	---	---	---
EID3	493861	broad.mit.edu	37	12	104697736	104697736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104697736G>T	uc001tkw.2	+	1	188	c.24G>T	c.(22-24)AGG>AGT	p.R8S	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0																		---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105151226	105151226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105151226T>A	uc001tkx.1	+	4	995	c.704T>A	c.(703-705)GTC>GAC	p.V235D	CHST11_uc001tky.2_Missense_Mutation_p.V230D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	235	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0																		---	---	---	---
SLC41A2	84102	broad.mit.edu	37	12	105199107	105199107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105199107G>A	uc001tla.2	-	10	1712	c.1545C>T	c.(1543-1545)ACC>ACT	p.T515T		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	515	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632882	106632882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632882C>T	uc001tlk.2	-	2	1813	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	577	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632988	106632988	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632988G>T	uc001tlk.2	-	2	1707	c.1623C>A	c.(1621-1623)GCC>GCA	p.A541A		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	541	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106633214	106633214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106633214T>A	uc001tlk.2	-	2	1481	c.1397A>T	c.(1396-1398)GAT>GTT	p.D466V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	466						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
TCP11L2	255394	broad.mit.edu	37	12	106729566	106729566	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106729566C>G	uc001tln.2	+	7	1096	c.922C>G	c.(922-924)CTG>GTG	p.L308V		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	308										ovary(3)	3																		---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106821127	106821127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106821127T>C	uc001tlp.2	+	13	1476	c.1254T>C	c.(1252-1254)GCT>GCC	p.A418A	POLR3B_uc001tlq.2_Silent_p.A360A	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	418					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107103144	107103144	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107103144G>T	uc001tlr.2	+	9	936	c.870G>T	c.(868-870)CTG>CTT	p.L290L	RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.L299L|RFX4_uc001tlt.2_Silent_p.L299L|RFX4_uc001tlv.2_Silent_p.L196L	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	290					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107155091	107155091	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107155091C>T	uc001tlr.2	+	18	2118	c.2052C>T	c.(2050-2052)TGC>TGT	p.C684C	RFX4_uc001tlt.2_Silent_p.C693C|RFX4_uc001tlv.2_Silent_p.C590C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	684					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107415864	107415864	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107415864T>C	uc001tmi.3	-	2	1124	c.265A>G	c.(265-267)AAG>GAG	p.K89E		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	89	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3																		---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	108011113	108011113	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108011113G>A	uc001tmk.1	+	9	2652	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.G711S|BTBD11_uc001tml.1_Missense_Mutation_p.G248S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	711	ANK 3.					integral to membrane	DNA binding			skin(2)|ovary(1)	3																		---	---	---	---
PRDM4	11108	broad.mit.edu	37	12	108136132	108136132	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108136132T>C	uc001tmp.2	-						PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_Intron	NM_012406	NP_036538			PR domain containing 4						cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
FICD	11153	broad.mit.edu	37	12	108912565	108912565	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108912565A>G	uc001tmx.1	+	3	836	c.690A>G	c.(688-690)ACA>ACG	p.T230T		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	230					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0																		---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109046095	109046095	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109046095A>G	uc001tnj.2	-	8	1050	c.954T>C	c.(952-954)GGT>GGC	p.G318G	CORO1C_uc009zva.2_Silent_p.G371G|CORO1C_uc010sxf.1_Silent_p.G281G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	318					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3																		---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109182581	109182581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109182581G>A	uc001tnm.2	-	15	2420	c.2333C>T	c.(2332-2334)TCA>TTA	p.S778L	SSH1_uc001tnl.2_Missense_Mutation_p.S466L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	778					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
USP30	84749	broad.mit.edu	37	12	109519161	109519161	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109519161T>C	uc010sxi.1	+	8	847	c.743T>C	c.(742-744)TTT>TCT	p.F248S	USP30_uc001tnu.3_Missense_Mutation_p.F217S|USP30_uc001tnw.3_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	248	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1																		---	---	---	---
ACACB	32	broad.mit.edu	37	12	109625968	109625968	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109625968G>A	uc001tob.2	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_uc001toc.2_Splice_Site_p.S715_splice	NM_001093	NP_001084			acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109845668	109845668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109845668C>T	uc010sxn.1	+	9	1057	c.1057C>T	c.(1057-1059)CGA>TGA	p.R353*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0																		---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109945425	109945425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109945425G>A	uc001top.2	+	15	2110	c.1507G>A	c.(1507-1509)GGG>AGG	p.G503R	UBE3B_uc001toq.2_Missense_Mutation_p.G503R|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G503R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110427530	110427530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110456152	110456152	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110456152C>T	uc001tpx.2	+	5	662	c.403C>T	c.(403-405)CCC>TCC	p.P135S	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.P135S|ANKRD13A_uc010sxw.1_Missense_Mutation_p.P135S	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	135											0																		---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110566827	110566827	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110566827G>A	uc001tqi.2	+	4	451	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q	IFT81_uc001tqh.2_Silent_p.Q107Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.Q107Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	107					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111089064	111089064	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111089064G>A	uc001trs.1	-	6	766	c.601C>T	c.(601-603)CTG>TTG	p.L201L	HVCN1_uc001trq.1_Silent_p.L201L|HVCN1_uc001trt.1_Silent_p.L201L|HVCN1_uc010syd.1_Silent_p.L181L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	201	Helical; Name=Segment S4; (By similarity).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1																		---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111317857	111317857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111317857G>A	uc001trv.1	+	6	832	c.637G>A	c.(637-639)GCC>ACC	p.A213T	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.A173T|CCDC63_uc001trw.1_Missense_Mutation_p.A128T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	213										skin(6)|ovary(1)|pancreas(1)	8																		---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112572809	112572809	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112572809T>G	uc001ttp.2	+						TRAFD1_uc001tto.2_Intron|TRAFD1_uc009zwb.2_Intron|TRAFD1_uc010syj.1_Intron	NM_006700	NP_006691			TRAF-type zinc finger domain containing 1						negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112707608	112707608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112707608C>T	uc009zwc.2	-	6	943	c.925G>A	c.(925-927)GAC>AAC	p.D309N	C12orf51_uc010syk.1_Missense_Mutation_p.D132N|C12orf51_uc001tts.2_Missense_Mutation_p.D132N|C12orf51_uc001ttt.3_Missense_Mutation_p.D132N	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112708191	112708191	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112708191A>T	uc009zwc.2	-	5	737	c.719T>A	c.(718-720)CTC>CAC	p.L240H	C12orf51_uc010syk.1_Missense_Mutation_p.L63H|C12orf51_uc001tts.2_Missense_Mutation_p.L63H|C12orf51_uc001ttt.3_Missense_Mutation_p.L63H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112891074	112891074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112891074T>C	uc001ttx.2	+	4	788	c.408T>C	c.(406-408)CTT>CTC	p.L136L	PTPN11_uc001ttw.1_Silent_p.L136L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	136	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392								Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307841	113307841	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113307841G>T	uc010syl.1	+	10	1155	c.793G>T	c.(793-795)GCA>TCA	p.A265S	RPH3A_uc001ttz.2_Missense_Mutation_p.A265S|RPH3A_uc001tty.2_Missense_Mutation_p.A261S|RPH3A_uc009zwe.1_Missense_Mutation_p.A261S|RPH3A_uc010sym.1_Missense_Mutation_p.A216S|RPH3A_uc001tua.2_Missense_Mutation_p.A25S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	265	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)														---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113379524	113379524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113379524G>A	uc001tug.2	+	2	414	c.327G>A	c.(325-327)TGG>TGA	p.W109*	OAS3_uc001tue.2_Nonsense_Mutation_p.W109*|OAS3_uc001tuf.2_Nonsense_Mutation_p.W109*	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	109	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113496081	113496081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113496081G>A	uc001tuk.1	+	1	420	c.84G>A	c.(82-84)TGG>TGA	p.W28*		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	28	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113603808	113603808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113603808G>A	uc001tup.2	-	13	1472	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	DDX54_uc001tuq.3_Missense_Mutation_p.R482W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	482					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
C12orf52	84934	broad.mit.edu	37	12	113629143	113629143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113629143G>A	uc001tur.1	+	4	799	c.331G>A	c.(331-333)GAT>AAT	p.D111N	C12orf52_uc009zwg.1_Missense_Mutation_p.D108N|C12orf52_uc001tus.1_Missense_Mutation_p.D111N|C12orf52_uc001tut.1_Missense_Mutation_p.D135N	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	111					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113633490	113633490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113633490A>G	uc001tuu.2	-	3	1106	c.934T>C	c.(934-936)TAT>CAT	p.Y312H		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1																		---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113906051	113906051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113906051T>C	uc001tvj.1	-	3	1130	c.556A>G	c.(556-558)ACC>GCC	p.T186A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	186	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114364873	114364873	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114364873C>A	uc009zwi.2	-	17	2374	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	RBM19_uc001tvn.3_Nonsense_Mutation_p.E744*|RBM19_uc001tvm.2_Nonsense_Mutation_p.E744*	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	744	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114397977	114397977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114397977A>G	uc009zwi.2	-	3	370	c.226T>C	c.(226-228)TTC>CTC	p.F76L	RBM19_uc001tvn.3_Missense_Mutation_p.F76L|RBM19_uc001tvm.2_Missense_Mutation_p.F76L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	76	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114837433	114837433	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114837433T>A	uc001tvo.2	-	4	742	c.247A>T	c.(247-249)ATG>TTG	p.M83L	TBX5_uc001tvp.2_Missense_Mutation_p.M83L|TBX5_uc001tvq.2_Missense_Mutation_p.M33L|TBX5_uc010syv.1_Missense_Mutation_p.M83L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	83	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116445236	116445236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116445236C>A	uc001tvw.2	-	11	2273	c.2218G>T	c.(2218-2220)GAT>TAT	p.D740Y		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116446399	116446399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116446399G>T	uc001tvw.2	-	10	1874	c.1819C>A	c.(1819-1821)CCT>ACT	p.P607T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	607					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
C12orf49	79794	broad.mit.edu	37	12	117160913	117160913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117160913C>T	uc001tvz.1	-	2	365	c.227G>A	c.(226-228)CGC>CAC	p.R76H	C12orf49_uc009zwm.1_Intron	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	76						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)														---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117365830	117365830	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117365830T>C	uc001twg.1	+	2	403	c.321T>C	c.(319-321)AAT>AAC	p.N107N	FBXW8_uc001twf.1_Silent_p.N41N|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	107							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117615411	117615411	+	Missense_Mutation	SNP	A	T	T	rs34443379		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117615411A>T	uc001twk.2	-	4	545	c.506T>A	c.(505-507)ATT>AAT	p.I169N	FBXO21_uc001twj.2_Missense_Mutation_p.I169N|FBXO21_uc009zwq.2_Missense_Mutation_p.I169N	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117962760	117962760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117962760C>T	uc001two.2	-	14	2084	c.2029G>A	c.(2029-2031)GCC>ACC	p.A677T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	706	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RFC5	5985	broad.mit.edu	37	12	118463644	118463644	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118463644A>G	uc001twq.2	+						RFC5_uc010syx.1_Intron|RFC5_uc010syy.1_Intron|RFC5_uc010syz.1_Intron|RFC5_uc009zwr.2_Intron	NM_007370	NP_031396			replication factor C 5 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118473035	118473035	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118473035T>C	uc001twr.2	-	7	1026	c.928A>G	c.(928-930)ACG>GCG	p.T310A	WSB2_uc010sza.1_Missense_Mutation_p.T85A|WSB2_uc010szb.1_Missense_Mutation_p.T100A|WSB2_uc009zws.1_Missense_Mutation_p.T310A	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	310	WD 5.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)															OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118599655	118599655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118599655G>A	uc001twx.2	-	18	2372	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	TAOK3_uc001twv.2_Nonsense_Mutation_p.R233*|TAOK3_uc001tww.2_Nonsense_Mutation_p.R523*|TAOK3_uc001twy.3_Nonsense_Mutation_p.R693*	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	693					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419782	119419782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119419782T>A	uc001txa.1	+	1	387	c.95T>A	c.(94-96)ATT>AAT	p.I32N		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	32					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119568536	119568536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119568536G>A	uc001txa.1	+	8	960	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	223	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119631646	119631646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119631646G>A	uc001txb.2	+	3	1097	c.574G>A	c.(574-576)GAA>AAA	p.E192K	HSPB8_uc001txc.2_3'UTR	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	192					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119909923	119909923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119909923C>T	uc001txe.2	+	3	760	c.295C>T	c.(295-297)CCA>TCA	p.P99S	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	99										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)														---	---	---	---
CIT	11113	broad.mit.edu	37	12	120295414	120295414	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120295414A>G	uc001txi.1	-	4	380	c.327T>C	c.(325-327)GCT>GCC	p.A109A	CIT_uc001txj.1_Silent_p.A109A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	109	ATP (By similarity).|Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120591161	120591161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120591161C>T	uc001txo.2	-	33	3931	c.3918G>A	c.(3916-3918)GCG>GCA	p.A1306A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120637168	120637168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120637168T>C	uc001txp.2	-	3	412	c.175A>G	c.(175-177)ACC>GCC	p.T59A	RPLP0_uc001txq.2_Missense_Mutation_p.T59A|RPLP0_uc001txr.2_Missense_Mutation_p.T59A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	59					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120783402	120783402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120783402A>G	uc001tye.1	-	14	1145	c.1081T>C	c.(1081-1083)TAC>CAC	p.Y361H		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
GATC	283459	broad.mit.edu	37	12	120884368	120884368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120884368A>G	uc010szi.1	+						TRIAP1_uc001tyg.2_5'Flank	NM_176818	NP_789788			glutamyl-tRNA(Gln) amidotransferase, subunit C						regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SFRS9	8683	broad.mit.edu	37	12	120907233	120907233	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120907233C>A	uc001tyi.2	-	1	326	c.180G>T	c.(178-180)GAG>GAT	p.E60D	SFRS9_uc009zwy.2_Missense_Mutation_p.E60D|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	60	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SPPL3	121665	broad.mit.edu	37	12	121206174	121206174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121660770	121660770	+	Missense_Mutation	SNP	G	A	A	rs145814749	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121660770G>A	uc001tzr.2	+	5	752	c.448G>A	c.(448-450)GTA>ATA	p.V150I	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.V166I|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.V49I	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	150	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	122016814	122016814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122016814T>C	uc001uat.2	-	2	268	c.164A>G	c.(163-165)GAC>GGC	p.D55G	KDM2B_uc001uas.2_Missense_Mutation_p.D24G|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D55G	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	55					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
TMEM120B	144404	broad.mit.edu	37	12	122213555	122213555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122213555G>A	uc001ubc.3	+	12	1091	c.947G>A	c.(946-948)GGC>GAC	p.G316D	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	316	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)												OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHOF	54509	broad.mit.edu	37	12	122217484	122217484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122217484G>A	uc001ubb.2	-	5	611	c.556C>T	c.(556-558)CGG>TGG	p.R186W	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	186					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122625562	122625562	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122625562T>C	uc001ubq.2	+	16	2570	c.2570T>C	c.(2569-2571)CTG>CCG	p.L857P	MLXIP_uc001ubt.2_Missense_Mutation_p.L464P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	857	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)														---	---	---	---
IL31	386653	broad.mit.edu	37	12	122657248	122657248	+	Missense_Mutation	SNP	G	A	A	rs138591343	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122657248G>A	uc001ubv.2	-	3	233	c.206C>T	c.(205-207)ACG>ATG	p.T69M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	69						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720408	122720408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122720408C>T	uc001ucd.2	-	11	1478	c.1365G>A	c.(1363-1365)CCG>CCA	p.P455P	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)														---	---	---	---
GPR81	27198	broad.mit.edu	37	12	123214131	123214131	+	Silent	SNP	G	A	A	rs146760413		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123214131G>A	uc001ucz.2	-	1	999	c.756C>T	c.(754-756)TGC>TGT	p.C252C	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	252	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123265820	123265820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123265820G>T	uc001udc.2	+	3	484	c.339G>T	c.(337-339)CAG>CAT	p.Q113H	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.Q113H|CCDC62_uc001ude.2_Missense_Mutation_p.A12S	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	113	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123285971	123285971	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123285971A>G	uc001udc.2	+	9	1423	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T426T|CCDC62_uc001ude.2_Silent_p.T187T	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	426						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123344632	123344632	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123344632G>A	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)												OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687931	123687931	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123687931T>G	uc001uel.2	-						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619			M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---
RILPL2	196383	broad.mit.edu	37	12	123915133	123915133	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123915133A>G	uc001uey.1	-	2	710	c.413T>C	c.(412-414)CTA>CCA	p.L138P		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	138	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124069277	124069277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124069277T>C	uc001ufg.2	+	1	202	c.94T>C	c.(94-96)TGC>CGC	p.C32R		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	32	Lumenal (Potential).|GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124071286	124071286	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124071286G>A	uc001ufg.2	+							NM_006815	NP_006806			coated vesicle membrane protein precursor						protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124137116	124137116	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124137116C>T	uc001ufo.1	+						GTF2H3_uc010tau.1_Intron	NM_001516	NP_001507			general transcription factor IIH, polypeptide 3,						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)									NER					---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124228803	124228803	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124228803C>T	uc001ufr.2	+	11	1493	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	415	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124235651	124235651	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124235651T>G	uc001ufr.2	+							NM_012463	NP_036595			ATPase, H+ transporting, lysosomal V0 subunit						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124268706	124268706	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124268706C>T	uc001uft.3	+	8	1054	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	343	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124330561	124330561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124330561T>C	uc001uft.3	+	31	5345	c.5320T>C	c.(5320-5322)TTT>CTT	p.F1774L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124393820	124393820	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124393820G>A	uc001uft.3	+	57	9499	c.9474G>A	c.(9472-9474)AAG>AAA	p.K3158K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3158	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124832728	124832728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124832728C>T	uc010tba.1	-	29	4118	c.4001G>A	c.(4000-4002)AGC>AAC	p.S1334N	NCOR2_uc010tay.1_Missense_Mutation_p.S1333N|NCOR2_uc010taz.1_Missense_Mutation_p.S1317N|NCOR2_uc010tbb.1_Missense_Mutation_p.S1326N|NCOR2_uc010tbc.1_Missense_Mutation_p.S1316N|NCOR2_uc001ugj.1_Missense_Mutation_p.S1334N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1334					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)												OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124835152	124835152	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124835152G>T	uc010tba.1	-	28	3966	c.3849C>A	c.(3847-3849)GGC>GGA	p.G1283G	NCOR2_uc010tay.1_Silent_p.G1282G|NCOR2_uc010taz.1_Silent_p.G1266G|NCOR2_uc010tbb.1_Silent_p.G1275G|NCOR2_uc010tbc.1_Silent_p.G1265G|NCOR2_uc001ugj.1_Silent_p.G1283G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1283					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124882718	124882718	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124882718T>G	uc010tba.1	-	16	1940	c.1823A>C	c.(1822-1824)GAG>GCG	p.E608A	NCOR2_uc010tay.1_Missense_Mutation_p.E608A|NCOR2_uc010taz.1_Missense_Mutation_p.E608A|NCOR2_uc010tbb.1_Missense_Mutation_p.E608A|NCOR2_uc010tbc.1_Missense_Mutation_p.E607A|NCOR2_uc001ugj.1_Missense_Mutation_p.E608A	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	608					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124885063	124885063	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124885063C>A	uc010tba.1	-	15	1914	c.1797G>T	c.(1795-1797)CAG>CAT	p.Q599H	NCOR2_uc010tay.1_Missense_Mutation_p.Q599H|NCOR2_uc010taz.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbb.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbc.1_Missense_Mutation_p.Q598H|NCOR2_uc001ugj.1_Missense_Mutation_p.Q599H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125294824	125294824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125294824C>A	uc001ugo.3	-	6	991	c.738G>T	c.(736-738)TGG>TGT	p.W246C	SCARB1_uc001ugn.3_Missense_Mutation_p.W246C|SCARB1_uc001ugm.3_Missense_Mutation_p.W246C|SCARB1_uc010tbd.1_Missense_Mutation_p.W246C|SCARB1_uc010tbe.1_Missense_Mutation_p.W205C|SCARB1_uc001ugp.3_Missense_Mutation_p.W246C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	246	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)													---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125444895	125444895	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125444895T>C	uc001ugy.2	-	16	2219	c.2120A>G	c.(2119-2121)GAC>GGC	p.D707G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
AACS	65985	broad.mit.edu	37	12	125591759	125591759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125591759T>C	uc001uhc.2	+	8	1066	c.860T>C	c.(859-861)ATC>ACC	p.I287T	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I287T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	287					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)														---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126004077	126004077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:126004077T>C	uc001uhe.1	+	4	1192	c.1184T>C	c.(1183-1185)GTG>GCG	p.V395A		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	395	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)														---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130185180	130185180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130185180G>A	uc009zyl.1	-	2	471	c.143C>T	c.(142-144)CCC>CTC	p.P48L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	48	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648123	130648123	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130648123G>A	uc001uii.2	+	1	1092	c.636G>A	c.(634-636)ACG>ACA	p.T212T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	212	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130897259	130897259	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130897259T>A	uc001uil.2	-	15	2890	c.2726A>T	c.(2725-2727)AAC>ATC	p.N909I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	909	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130898739	130898739	+	Silent	SNP	C	T	T	rs143479429	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130898739C>T	uc001uil.2	-	14	2747	c.2583G>A	c.(2581-2583)CCG>CCA	p.P861P		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	861	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131569156	131569156	+	Missense_Mutation	SNP	G	A	A	rs145630930	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:131569156G>A	uc001uit.3	+	15	2178	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	GPR133_uc010tbm.1_Missense_Mutation_p.R572H|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R59H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	540	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132241057	132241057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132241057C>T	uc001uja.1	+	11	1728	c.1588C>T	c.(1588-1590)CCC>TCC	p.P530S	SFRS8_uc010tbn.1_Missense_Mutation_p.P530S|SFRS8_uc001ujb.1_Missense_Mutation_p.P323S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	530					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132249139	132249139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132249139C>T	uc001uja.1	+	12	1999	c.1859C>T	c.(1858-1860)GCT>GTT	p.A620V	SFRS8_uc010tbn.1_Missense_Mutation_p.A620V|SFRS8_uc001ujb.1_Missense_Mutation_p.A413V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	620					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132281751	132281751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132281751C>T	uc001uja.1	+	16	2703	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	SFRS8_uc010tbn.1_Missense_Mutation_p.R907W	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	855	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132334582	132334582	+	Silent	SNP	C	T	T	rs149055160		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132334582C>T	uc001ujc.1	+	9	1539	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	MMP17_uc001ujd.1_Silent_p.D396D	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	480	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132508396	132508396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132508396C>T	uc001ujn.2	+	23	4800	c.4765C>T	c.(4765-4767)CCG>TCG	p.P1589S	EP400_uc001ujl.2_Missense_Mutation_p.P1588S|EP400_uc001ujm.2_Missense_Mutation_p.P1508S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132534928	132534928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132534928C>T	uc001ujn.2	+	39	7296	c.7261C>T	c.(7261-7263)CAC>TAC	p.H2421Y	EP400_uc001ujl.2_Missense_Mutation_p.H2420Y|EP400_uc001ujm.2_Missense_Mutation_p.H2340Y	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2457					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133197925	133197925	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133197925T>C	uc001ukj.1	+	9	990	c.990T>C	c.(988-990)CAT>CAC	p.H330H	P2RX2_uc001uki.1_Silent_p.H330H|P2RX2_uc001ukk.1_Silent_p.H330H|P2RX2_uc001ukl.1_Silent_p.H306H|P2RX2_uc001ukm.1_Silent_p.H258H|P2RX2_uc001ukn.1_Silent_p.H238H|P2RX2_uc009zyt.1_Silent_p.H330H|P2RX2_uc001uko.1_Silent_p.H296H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	330	Pore-forming motif (Potential).|Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)														---	---	---	---
POLE	5426	broad.mit.edu	37	12	133214612	133214612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133214612T>C	uc001uks.1	-	41	5710	c.5666A>G	c.(5665-5667)TAC>TGC	p.Y1889C	POLE_uc001ukq.1_Missense_Mutation_p.Y99C|POLE_uc001ukr.1_Missense_Mutation_p.Y693C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1889					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133234500	133234500	+	Missense_Mutation	SNP	C	T	T	rs114315196	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133234500C>T	uc001uks.1	-	27	3376	c.3332G>A	c.(3331-3333)CGG>CAG	p.R1111Q	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1111					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245074	133245074	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133245074T>G	uc001uks.1	-	19	2085	c.2041A>C	c.(2041-2043)AGC>CGC	p.S681R	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.S654R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	681					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133249803	133249803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133249803C>T	uc001uks.1	-	14	1464	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V447I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	474					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133291482	133291482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133291482A>G	uc009zyv.2	+	2	257	c.230A>G	c.(229-231)AAC>AGC	p.N77S	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.N77S	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	77	Interaction with KEAP1.					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133306795	133306795	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133306795T>C	uc001ukx.2	-	11	2020	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	ANKLE2_uc009zyw.1_Missense_Mutation_p.I6M	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133324563	133324563	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133324563T>C	uc001ukx.2	-	5	1152	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	ANKLE2_uc001uky.3_Missense_Mutation_p.N300S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	362						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133350896	133350896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133350896G>A	uc001ukz.1	-	23	4713	c.4154C>T	c.(4153-4155)CCG>CTG	p.P1385L		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1385	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363022	133363022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133363022C>T	uc001ukz.1	-	15	3585	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	GOLGA3_uc001ula.1_Missense_Mutation_p.R1009H|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1009H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1009	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433166	133433166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433166T>C	uc001ulf.2	-	10	1237	c.1153A>G	c.(1153-1155)ATC>GTC	p.I385V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.I373V|CHFR_uc010tbs.1_Missense_Mutation_p.I385V|CHFR_uc001uld.2_Missense_Mutation_p.I344V|CHFR_uc010tbt.1_Missense_Mutation_p.I293V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	385					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433184	133433184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433184T>C	uc001ulf.2	-	10	1219	c.1135A>G	c.(1135-1137)ATG>GTG	p.M379V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.M367V|CHFR_uc010tbs.1_Missense_Mutation_p.M379V|CHFR_uc001uld.2_Missense_Mutation_p.M338V|CHFR_uc010tbt.1_Missense_Mutation_p.M287V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	379					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20039713	20039713	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20039713A>G	uc001umd.2	-						TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_Intron	NM_199254	NP_954863			TPTE and PTEN homologous inositol lipid							endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20412952	20412952	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20412952C>T	uc010tcn.1	-	5	1025	c.760G>A	c.(760-762)GGA>AGA	p.G254R	ZMYM5_uc001umm.1_Missense_Mutation_p.G78R|ZMYM5_uc001umn.2_Missense_Mutation_p.G254R|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	254						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)														---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20579332	20579332	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20579332G>T	uc001umr.2	+	6	1550	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	ZMYM2_uc001umq.2_Nonsense_Mutation_p.G331*|ZMYM2_uc001ums.2_Nonsense_Mutation_p.G418*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.G418*|ZMYM2_uc010tco.1_RNA	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	418	MYM-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373315	21373315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373315A>G	uc001unq.3	-	16	2347	c.2311T>C	c.(2311-2313)TAT>CAT	p.Y771H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	771					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373449	21373449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373449C>T	uc001unq.3	-	16	2213	c.2177G>A	c.(2176-2178)TGG>TAG	p.W726*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	726					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562755	21562755	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562755C>T	uc009zzs.2	-	4	1529	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	LATS2_uc001unr.3_Silent_p.A388A	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	388					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562993	21562993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562993G>A	uc009zzs.2	-	4	1291	c.926C>T	c.(925-927)GCC>GTC	p.A309V	LATS2_uc001unr.3_Missense_Mutation_p.A309V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	309					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21736007	21736007	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21736007C>T	uc001unt.2	-	5	845	c.751G>A	c.(751-753)GCC>ACC	p.A251T	SKA3_uc001unv.2_Missense_Mutation_p.A169T|SKA3_uc001unu.2_Missense_Mutation_p.A251T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	251					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0																		---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22275428	22275428	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22275428C>A	uc001uog.2	+	3	1318	c.481C>A	c.(481-483)CGA>AGA	p.R161R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23904580	23904580	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23904580G>T	uc001uon.2	-	10	14024	c.13435C>A	c.(13435-13437)CTT>ATT	p.L4479I	SACS_uc001uoo.2_Missense_Mutation_p.L4332I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4479	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24233272	24233272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24233272G>A	uc001uov.1	+	6	593	c.529G>A	c.(529-531)GCT>ACT	p.A177T	TNFRSF19_uc001uot.2_Missense_Mutation_p.A177T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A45T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A177T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	177	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)														---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24453405	24453405	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24453405A>G	uc001uox.3	-	4	639	c.539_splice	c.e4+1	p.R180_splice		NM_005932	NP_005923			mitochondrial intermediate peptidase precursor						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)														---	---	---	---
C1QTNF9	338872	broad.mit.edu	37	13	24890300	24890300	+	Silent	SNP	C	T	T	rs140529849		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24890300C>T	uc001upj.2	+	2	220	c.159C>T	c.(157-159)GGC>GGT	p.G53G	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	53	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25072362	25072362	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25072362T>C	uc001upl.2	-	6	589	c.483A>G	c.(481-483)GGA>GGG	p.G161G	PARP4_uc010tdc.1_Silent_p.G161G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	161					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25276190	25276190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25276190G>A	uc001upp.2	+	14	2186	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP12A_uc010aaa.2_Missense_Mutation_p.V673M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	667	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)													---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25451230	25451230	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25451230A>G	uc001upr.2	+	34	4720	c.4679A>G	c.(4678-4680)GAG>GGG	p.E1560G	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1556G|RNF17_uc001ups.2_Missense_Mutation_p.E1499G|RNF17_uc010aac.2_Missense_Mutation_p.E752G|RNF17_uc010aad.2_Missense_Mutation_p.E570G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1560					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)														---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25457393	25457393	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25457393A>T	uc001upt.3	-	17	4192	c.3939T>A	c.(3937-3939)CAT>CAA	p.H1313Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1313					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)														---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672238	25672238	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25672238A>T	uc001upy.2	+	1						NM_030979	NP_112241			poly(A) binding protein, cytoplasmic 3						mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
FAM123A	219287	broad.mit.edu	37	13	25745239	25745239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25745239C>T	uc001uqb.2	-	1	619	c.519G>A	c.(517-519)TCG>TCA	p.S173S	FAM123A_uc001uqa.2_Silent_p.S173S|FAM123A_uc001uqc.2_Silent_p.S173S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	173										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25841985	25841985	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25841985T>C	uc001uqf.3	-	3	555	c.236A>G	c.(235-237)CAT>CGT	p.H79R	MTMR6_uc001uqe.1_Missense_Mutation_p.H79R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	79						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)														---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26163837	26163837	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26163837T>C	uc001uqk.2	+	24	2353	c.2211T>C	c.(2209-2211)GAT>GAC	p.D737D	ATP8A2_uc010tdi.1_Silent_p.D697D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D247D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	697	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)														---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26975768	26975768	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26975768C>A	uc001uqr.1	+						CDK8_uc001uqs.1_Intron|CDK8_uc001uqt.1_Intron	NM_001260	NP_001251			cyclin-dependent kinase 8						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)														---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333537	27333537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27333537T>A	uc010aal.2	-	2	650	c.428A>T	c.(427-429)TAC>TTC	p.Y143F	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	143	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)														---	---	---	---
USP12	219333	broad.mit.edu	37	13	27649324	27649324	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27649324T>A	uc001uqy.2	-							NM_182488	NP_872294			ubiquitin thiolesterase 12						protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)														---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28537373	28537373	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28537373G>T	uc001urv.2	-	3	995	c.821C>A	c.(820-822)CCT>CAT	p.P274H		NM_001265	NP_001256	Q99626	CDX2_HUMAN	caudal type homeobox 2	274					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)				T	ETV6	AML								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608021	28608021	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28608021T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28624226	28624226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28624226T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28866538	28866538	+	Missense_Mutation	SNP	A	G	G	rs77051153		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28866538A>G	uc001urz.2	+	18	2113	c.2105A>G	c.(2104-2106)GAA>GGA	p.E702G	PAN3_uc001ury.2_Missense_Mutation_p.E536G|PAN3_uc001urx.2_Missense_Mutation_p.E648G	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	848	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28931709	28931709	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28931709C>T	uc001usb.3	-	15	2515	c.2230G>A	c.(2230-2232)GCA>ACA	p.A744T		NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	744	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28959109	28959109	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28959109A>C	uc001usb.3	-	14	2314	c.2029T>G	c.(2029-2031)TCC>GCC	p.S677A	FLT1_uc010aar.1_Missense_Mutation_p.S677A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	677	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29855913	29855913	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29855913C>G	uc001usl.3	+	4	2805	c.2747C>G	c.(2746-2748)GCC>GGC	p.A916G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---
ALOX5AP	241	broad.mit.edu	37	13	31338107	31338107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31338107G>A	uc001utf.1	+	5	424	c.350G>A	c.(349-351)CGC>CAC	p.R117H	ALOX5AP_uc010tdr.1_Missense_Mutation_p.R174H	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	117	Inhibitor binding.|Helical.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding				0		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)														---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31821211	31821211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31821211T>C	uc010aaz.2	+	5	432	c.322T>C	c.(322-324)TGG>CGG	p.W108R		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	108	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)														---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32332460	32332460	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32332460A>G	uc001utt.2	+	2	231	c.160A>G	c.(160-162)AAT>GAT	p.N54D	RXFP2_uc010aba.2_Missense_Mutation_p.N37D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	54	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32808832	32808832	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32808832A>G	uc001utx.2	+	42	6145	c.5649A>G	c.(5647-5649)GCA>GCG	p.A1883A	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32839709	32839709	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32839709G>T	uc001utx.2	+	54	8398	c.7902G>T	c.(7900-7902)GGG>GGT	p.G2634G	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.G189G|FRY_uc001utz.2_Silent_p.G159G|FRY_uc010tdx.1_Silent_p.G4G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32841346	32841346	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32841346G>A	uc001utx.2	+	55	8482	c.7986G>A	c.(7984-7986)TCG>TCA	p.S2662S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.S217S|FRY_uc001utz.2_Silent_p.S187S|FRY_uc010tdx.1_Silent_p.S32S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32868689	32868689	+	Missense_Mutation	SNP	G	T	T	rs147607259	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32868689G>T	uc001utx.2	+	60	9261	c.8765G>T	c.(8764-8766)CGG>CTG	p.R2922L	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.R453L|FRY_uc010tdx.1_Missense_Mutation_p.R292L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906609	32906609	+	Missense_Mutation	SNP	A	T	T	rs80359778		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32906609A>T	uc001uub.1	+	10	1221	c.994A>T	c.(994-996)ATT>TTT	p.I332F	BRCA2_uc001uua.1_Missense_Mutation_p.I209F	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	332					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32945087	32945087	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32945087T>A	uc001uub.1	+							NM_000059	NP_000050			breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
KL	9365	broad.mit.edu	37	13	33635256	33635256	+	Silent	SNP	C	T	T	rs138723796	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33635256C>T	uc001uus.2	+	4	2048	c.2040C>T	c.(2038-2040)CAC>CAT	p.H680H	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	680	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33692261	33692261	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33692261T>A	uc001uuw.2	-	8	2348	c.2222A>T	c.(2221-2223)GAC>GTC	p.D741V	STARD13_uc001uuu.2_Missense_Mutation_p.D733V|STARD13_uc001uuv.2_Missense_Mutation_p.D623V|STARD13_uc001uux.2_Missense_Mutation_p.D706V|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	741	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33703177	33703177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33703177G>A	uc001uuw.2	-	5	1763	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	STARD13_uc001uuu.2_Missense_Mutation_p.T538M|STARD13_uc001uuv.2_Missense_Mutation_p.T428M|STARD13_uc001uux.2_Missense_Mutation_p.T511M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T531M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36242655	36242655	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36242655A>C	uc001uvb.2	+	57	8955	c.8749A>C	c.(8749-8751)AGG>CGG	p.R2917R	NBEA_uc010abi.2_Silent_p.R1575R|NBEA_uc010tef.1_Silent_p.R710R|NBEA_uc001uvd.2_Silent_p.R495R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2917	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36348794	36348794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36348794G>A	uc001uvf.2	-	18	2408	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DCLK1_uc001uve.3_Silent_p.D418D|DCLK1_uc010teh.1_Missense_Mutation_p.R394C|DCLK1_uc010abk.2_Silent_p.D245D	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	Error:Variant_position_missing_in_O15075_after_alignment					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36699987	36699987	+	Silent	SNP	C	T	T	rs141898843		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36699987C>T	uc001uvf.2	-	2	521	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	96	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909169	36909169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36909169C>T	uc001uvn.2	-	3	1069	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SPG20_uc010ten.1_Missense_Mutation_p.G267R|SPG20_uc001uvm.2_Missense_Mutation_p.G267R|SPG20_uc001uvo.2_Missense_Mutation_p.G267R|SPG20_uc001uvq.2_Missense_Mutation_p.G267R|SPG20_uc001uvp.2_Missense_Mutation_p.G267R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	267					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---
FAM48A	55578	broad.mit.edu	37	13	37614783	37614783	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37614783T>C	uc001uwg.2	-	8	691	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	FAM48A_uc010abt.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y148C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y148C|FAM48A_uc010tes.1_Missense_Mutation_p.Y136C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y148C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	148					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)														---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38153250	38153250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38153250A>G	uc001uwo.3	-	14	1918	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D	POSTN_uc010tet.1_Silent_p.D128D|POSTN_uc001uwp.3_Silent_p.D600D|POSTN_uc001uwr.2_Silent_p.D600D|POSTN_uc001uwq.2_Silent_p.D600D|POSTN_uc010teu.1_Silent_p.D600D|POSTN_uc010tev.1_Silent_p.D600D|POSTN_uc010tew.1_Silent_p.D600D	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	600	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39263259	39263259	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39263259A>T	uc001uwv.2	+	1	2087	c.1778A>T	c.(1777-1779)GAT>GTT	p.D593V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	593	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39425256	39425256	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39425256T>G	uc001uwv.2	+						FREM2_uc001uww.2_Intron	NM_207361	NP_997244			FRAS1-related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39432107	39432107	+	Silent	SNP	C	T	T	rs142939064		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39432107C>T	uc001uwv.2	+	13	7461	c.7152C>T	c.(7150-7152)GAC>GAT	p.D2384D	FREM2_uc001uww.2_Silent_p.D470D	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2384	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39450201	39450201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39450201G>A	uc001uwv.2	+	19	8633	c.8324G>A	c.(8323-8325)GGC>GAC	p.G2775D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2775	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587269	39587269	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587269A>T	uc001uwy.2	-	11	2993	c.2120T>A	c.(2119-2121)TTT>TAT	p.F707Y	C13orf23_uc001uwz.2_Missense_Mutation_p.F685Y	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	707	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587655	39587655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587655T>C	uc001uwy.2	-	11	2607	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	C13orf23_uc001uwz.2_Silent_p.S556S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	578	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40251660	40251660	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40251660C>T	uc001uxh.2	+	5	584	c.484C>T	c.(484-486)CTG>TTG	p.L162L	COG6_uc001uxi.2_Silent_p.L110L|COG6_uc010acb.2_Silent_p.L162L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	162					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40261756	40261756	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40261756A>G	uc001uxh.2	+	9	1005	c.905A>G	c.(904-906)CAT>CGT	p.H302R	COG6_uc001uxi.2_Missense_Mutation_p.H250R|COG6_uc010acb.2_Missense_Mutation_p.H302R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	302					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41706252	41706252	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41706252A>T	uc001uxu.1	-	1	685	c.396T>A	c.(394-396)GGT>GGA	p.G132G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.G66G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	132	BTB.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)														---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41902913	41902913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41902913A>G	uc001uyf.2	+	7	1069	c.745A>G	c.(745-747)AAC>GAC	p.N249D	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.N249D|NAA16_uc001uyd.3_Missense_Mutation_p.N249D	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	249	TPR 4.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1																		---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42295544	42295544	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42295544A>G	uc001uyj.2	-	25	2996	c.2926T>C	c.(2926-2928)TCT>CCT	p.S976P	KIAA0564_uc001uyk.2_Missense_Mutation_p.S976P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	976						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42303761	42303761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42303761G>T	uc001uyj.2	-	23	2625	c.2555C>A	c.(2554-2556)GCT>GAT	p.A852D	KIAA0564_uc001uyk.2_Missense_Mutation_p.A852D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	852						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42385394A>G	uc001uyj.2	-	17	2100	c.2030T>C	c.(2029-2031)CTT>CCT	p.L677P	KIAA0564_uc001uyk.2_Missense_Mutation_p.L677P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	677						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42407516	42407516	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42407516A>C	uc001uyj.2	-	13	1647	c.1577T>G	c.(1576-1578)GTA>GGA	p.V526G	KIAA0564_uc001uyk.2_Missense_Mutation_p.V526G	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	526						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42457538	42457538	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42457538C>T	uc001uyj.2	-	9	1135	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	KIAA0564_uc001uyk.2_Silent_p.V355V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	355						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42729868	42729868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42729868A>G	uc001uyl.1	+	5	576	c.555A>G	c.(553-555)CGA>CGG	p.R185R	DGKH_uc010tfh.1_Silent_p.R185R|DGKH_uc001uym.1_Silent_p.R185R|DGKH_uc010tfi.1_Missense_Mutation_p.D18G|DGKH_uc010tfj.1_Silent_p.R40R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.R40R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	185	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42795459	42795459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42795459T>C	uc001uyl.1	+	29	3523	c.3502T>C	c.(3502-3504)TAC>CAC	p.Y1168H	DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyp.2_Intron	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1168	SAM.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42872729	42872729	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42872729A>T	uc001uys.1	+	7	587	c.412A>T	c.(412-414)ATT>TTT	p.I138F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	138					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42893313	42893313	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42893313C>A	uc001uys.1	+	13	5830	c.5655C>A	c.(5653-5655)TCC>TCA	p.S1885S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1885					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
C13orf31	144811	broad.mit.edu	37	13	44458051	44458051	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:44458051G>T	uc010acg.2	+	4	1371	c.886G>T	c.(886-888)GCA>TCA	p.A296S	C13orf31_uc001uzf.3_Missense_Mutation_p.A296S	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	296											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)														---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45553376	45553376	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45553376A>G	uc001uzp.2	-	5	725	c.683T>C	c.(682-684)ATC>ACC	p.I228T		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	228					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)														---	---	---	---
KCTD4	386618	broad.mit.edu	37	13	45768438	45768438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45768438C>T	uc001uzx.3	-	2	669	c.265G>A	c.(265-267)GTC>ATC	p.V89I	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	89	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)														---	---	---	---
GTF2F2	2963	broad.mit.edu	37	13	45841416	45841416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45841416G>A	uc001uzw.2	+	7	695	c.535G>A	c.(535-537)GAT>AAT	p.D179N	GTF2F2_uc001uzv.2_Missense_Mutation_p.D179N	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	179					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)														---	---	---	---
COG3	83548	broad.mit.edu	37	13	46093104	46093104	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46093104G>A	uc001vak.2	+	19	2130	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	COG3_uc010tfv.1_Missense_Mutation_p.E514K|COG3_uc010aci.2_Missense_Mutation_p.E453K	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	677					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287717	46287717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287717A>G	uc001van.1	+	3	637	c.557A>G	c.(556-558)AAC>AGC	p.N186S	SPERT_uc001vao.2_Missense_Mutation_p.N150S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	186	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287807	46287807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287807C>T	uc001van.1	+	3	727	c.647C>T	c.(646-648)TCG>TTG	p.S216L	SPERT_uc001vao.2_Missense_Mutation_p.S180L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	216						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357728	46357728	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46357728G>T	uc001vap.2	-	2	682	c.600C>A	c.(598-600)ACC>ACA	p.T200T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	200					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549903	46549903	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46549903C>A	uc010tfw.1	-	11	1989	c.1983G>T	c.(1981-1983)GAG>GAT	p.E661D	ZC3H13_uc001vas.1_Missense_Mutation_p.E661D|ZC3H13_uc001vat.1_Missense_Mutation_p.E661D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	661	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559477	46559477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46559477G>A	uc010tfw.1	-	9	1681	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R559*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R559*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	559	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46638817	46638817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46638817G>A	uc001vaw.2	-	8	829	c.762C>T	c.(760-762)GAC>GAT	p.D254D	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.D217D	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	254					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46661956	46661956	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46661956C>T	uc001vaw.2	-	2	142	c.75_splice	c.e2-1	p.S25_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.S25_splice	NM_001872	NP_001863			plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46942256	46942256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46942256C>T	uc010acl.2	-	5	1352	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	C13orf18_uc001vbf.3_Silent_p.Q182Q|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Silent_p.Q92Q|C13orf18_uc010acm.2_Silent_p.Q114Q|C13orf18_uc010acn.2_Silent_p.Q34Q|C13orf18_uc001vbe.3_Silent_p.Q249Q|C13orf18_uc001vbh.3_Silent_p.Q249Q|C13orf18_uc001vbi.3_Silent_p.Q92Q|C13orf18_uc010aco.1_Silent_p.Q249Q	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	249											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
ESD	2098	broad.mit.edu	37	13	47351597	47351597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47351597C>T	uc001vbn.2	-	9	945	c.762G>A	c.(760-762)TTG>TTA	p.L254L	ESD_uc001vbo.2_Silent_p.L254L|ESD_uc001vbp.1_Silent_p.L112L	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	254						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47355755	47355755	+	Intron	SNP	A	G	G	rs35178907		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47355755A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron|ESD_uc001vbp.1_5'Flank	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47361145	47361145	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47361145A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409003	47409003	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47409003T>G	uc001vbq.2	-	3	1519	c.1385A>C	c.(1384-1386)GAC>GCC	p.D462A	HTR2A_uc001vbr.2_Missense_Mutation_p.D362A|HTR2A_uc010acr.2_Missense_Mutation_p.D462A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	462	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
RB1	5925	broad.mit.edu	37	13	48921969	48921969	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48921969A>G	uc001vcb.2	+	5	675	c.509A>G	c.(508-510)GAA>GGA	p.E170G	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	170					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
LPAR6	10161	broad.mit.edu	37	13	48986487	48986487	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48986487T>C	uc010acu.2	-	1	1167	c.73A>G	c.(73-75)AGC>GGC	p.S25G	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.S25G|LPAR6_uc001vcf.2_Missense_Mutation_p.S25G	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	25	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4																		---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49781431	49781431	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49781431G>A	uc001vcm.2	+	26	3802	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.R1166Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.R1110Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1166						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)														---	---	---	---
CDADC1	81602	broad.mit.edu	37	13	49833617	49833617	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49833617T>C	uc001vcu.2	+	4	464	c.388T>C	c.(388-390)TCC>CCC	p.S130P	CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	130							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)														---	---	---	---
CAB39L	81617	broad.mit.edu	37	13	49885125	49885125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49885125A>G	uc001vcw.2	-	9	1337	c.839T>C	c.(838-840)TTT>TCT	p.F280S	CAB39L_uc001vcx.2_Missense_Mutation_p.F280S|CAB39L_uc010adf.2_Missense_Mutation_p.F277S	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	280					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50050783	50050783	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50050783T>A	uc001vcz.2	+	7	1419	c.513T>A	c.(511-513)TGT>TGA	p.C171*	SETDB2_uc010adg.2_Nonsense_Mutation_p.C147*|SETDB2_uc001vcy.3_Nonsense_Mutation_p.C159*|SETDB2_uc010adh.2_Nonsense_Mutation_p.C159*|SETDB2_uc001vda.2_Nonsense_Mutation_p.C159*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	171	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50055082	50055082	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50055082G>A	uc001vcz.2	+	9	1929	c.1023_splice	c.e9-1	p.G341_splice	SETDB2_uc010adg.2_Splice_Site_p.G317_splice|SETDB2_uc001vcy.3_Splice_Site_p.G329_splice|SETDB2_uc010adh.2_Splice_Site_p.G329_splice|SETDB2_uc001vda.2_Splice_Site_p.G329_splice	NM_031915	NP_114121			SET domain, bifurcated 2 isoform a						cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50279883	50279883	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50279883A>G	uc001vdj.2	-	15	1661	c.1246T>C	c.(1246-1248)TTC>CTC	p.F416L		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	416	ARM 9.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)														---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52515217	52515217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52515217C>T	uc001vfw.2	-	16	3713	c.3556G>A	c.(3556-3558)GGT>AGT	p.G1186S	ATP7B_uc010adv.2_Missense_Mutation_p.G756S|ATP7B_uc001vfx.2_Missense_Mutation_p.G979S|ATP7B_uc001vfy.2_Missense_Mutation_p.G1075S|ATP7B_uc010tgt.1_Missense_Mutation_p.G1121S|ATP7B_uc010tgu.1_Missense_Mutation_p.G1138S|ATP7B_uc010tgv.1_Missense_Mutation_p.G1108S|ATP7B_uc001vfv.2_Missense_Mutation_p.G458S|ATP7B_uc010tgs.1_Missense_Mutation_p.G397S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1186	Cytoplasmic (Potential).		G -> S (in WD; possibly not disease- causing).|G -> C (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52523920	52523920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52523920G>A	uc001vfw.2	-	12	2900	c.2743C>T	c.(2743-2745)CAG>TAG	p.Q915*	ATP7B_uc010adv.2_Nonsense_Mutation_p.Q485*|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Nonsense_Mutation_p.Q804*|ATP7B_uc010tgt.1_Nonsense_Mutation_p.Q915*|ATP7B_uc010tgu.1_Nonsense_Mutation_p.Q867*|ATP7B_uc010tgv.1_Nonsense_Mutation_p.Q837*|ATP7B_uc001vfv.2_Nonsense_Mutation_p.Q187*|ATP7B_uc010tgs.1_Nonsense_Mutation_p.Q187*	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	915	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52539088	52539088	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52539088C>T	uc001vfw.2	-	5	1946	c.1789G>A	c.(1789-1791)GTT>ATT	p.V597I	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597I|ATP7B_uc001vfy.2_Missense_Mutation_p.V486I|ATP7B_uc010tgt.1_Missense_Mutation_p.V597I|ATP7B_uc010tgu.1_Missense_Mutation_p.V597I|ATP7B_uc010tgv.1_Missense_Mutation_p.V597I|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52663438	52663438	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52663438T>C	uc001vge.2	-	14	1360	c.1220A>G	c.(1219-1221)TAC>TGC	p.Y407C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	407							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	A	A	rs144799411	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952229G>A	uc001vgo.2	-	5	2421	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	THSD1_uc001vgp.2_Missense_Mutation_p.R573C|THSD1_uc010tgz.1_Missense_Mutation_p.R247C|THSD1_uc010aea.2_Missense_Mutation_p.R87C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	626	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952905	52952905	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952905T>C	uc001vgo.2	-	5	1745	c.1200A>G	c.(1198-1200)CCA>CCG	p.P400P	THSD1_uc001vgp.2_Silent_p.P347P|THSD1_uc010tgz.1_Silent_p.P21P|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	400	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53420245	53420245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53420245C>T	uc001vhi.2	-	1	2530	c.2327G>A	c.(2326-2328)CGC>CAC	p.R776H	PCDH8_uc001vhj.2_Missense_Mutation_p.R776H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208481	58208481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208481G>A	uc001vhq.1	+	1	2693	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	PCDH17_uc010aec.1_Missense_Mutation_p.A601T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	601	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208684	58208684	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208684C>T	uc001vhq.1	+	1	2896	c.2004C>T	c.(2002-2004)CAC>CAT	p.H668H	PCDH17_uc010aec.1_Silent_p.H668H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	668	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208869	58208869	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208869G>A	uc001vhq.1	+	1	3081	c.2189G>A	c.(2188-2190)TGC>TAC	p.C730Y	PCDH17_uc010aec.1_Missense_Mutation_p.C730Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60240957	60240957	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60240957C>A	uc001vht.2	-	28	3562	c.3343G>T	c.(3343-3345)GAA>TAA	p.E1115*	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1115					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60545158	60545158	+	Missense_Mutation	SNP	G	T	T	rs150023947	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60545158G>T	uc001vht.2	-	16	2006	c.1787C>A	c.(1786-1788)CCT>CAT	p.P596H	DIAPH3_uc001vhu.2_Missense_Mutation_p.P333H|DIAPH3_uc001vhv.2_Missense_Mutation_p.P174H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	596	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616864	60616864	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616864G>T	uc001vht.2	-	5	805	c.586C>A	c.(586-588)CTG>ATG	p.L196M	DIAPH3_uc001vhw.1_Missense_Mutation_p.L185M|DIAPH3_uc010aed.1_Missense_Mutation_p.L150M|DIAPH3_uc010aee.1_Missense_Mutation_p.L126M|uc001vhx.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	196	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986186	61986186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61986186A>G	uc001vid.3	-	2	2410	c.2046T>C	c.(2044-2046)AGT>AGC	p.S682S	PCDH20_uc010thj.1_Silent_p.S682S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	655	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72049923	72049923	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72049923T>C	uc010thn.1	-	10	2352	c.1929A>G	c.(1927-1929)GCA>GCG	p.A643A	DACH1_uc010tho.1_Silent_p.A495A|DACH1_uc010thp.1_Silent_p.A441A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	695	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72063126	72063126	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72063126T>C	uc010thn.1	-						DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937			dachshund homolog 1 isoform a						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72146996	72146996	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72146996G>T	uc010thn.1	-	5	1698	c.1275C>A	c.(1273-1275)TCC>TCA	p.S425S	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	477					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73349461	73349461	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73349461A>G	uc001vix.3	-	6	1249	c.875T>C	c.(874-876)GTG>GCG	p.V292A	DIS3_uc001viy.3_Missense_Mutation_p.V262A|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	292					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73350153	73350153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73350153A>G	uc001vix.3	-	5	1106	c.732T>C	c.(730-732)GGT>GGC	p.G244G	DIS3_uc001viy.3_Silent_p.G214G|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	244					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75861153	75861153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75861153A>G	uc001vjl.1	-	21	4019	c.3672T>C	c.(3670-3672)CAT>CAC	p.H1224H	TBC1D4_uc010tht.1_Silent_p.H434H|TBC1D4_uc010thu.1_Silent_p.H381H|TBC1D4_uc010aer.2_Silent_p.H1216H|TBC1D4_uc010aes.2_Silent_p.H1161H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1224						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76408473	76408473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76408473C>T	uc001vjv.2	+	14	3237	c.2477C>T	c.(2476-2478)GCT>GTT	p.A826V	LMO7_uc010thv.1_Missense_Mutation_p.A777V|LMO7_uc001vjt.1_Missense_Mutation_p.A725V|LMO7_uc010thw.1_Missense_Mutation_p.A676V|LMO7_uc001vjw.1_Missense_Mutation_p.A732V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1111	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)														---	---	---	---
KCTD12	115207	broad.mit.edu	37	13	77459345	77459345	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77459345G>C	uc010aeu.1	-	1	1196	c.939C>G	c.(937-939)ATC>ATG	p.I313M	KCTD12_uc001vka.1_Missense_Mutation_p.I313M	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	313						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)												OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77671955	77671955	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77671955T>A	uc001vkf.2	-	57	9311	c.9220A>T	c.(9220-9222)ATG>TTG	p.M3074L	MYCBP2_uc010aev.2_Missense_Mutation_p.M2478L|MYCBP2_uc001vkg.1_Missense_Mutation_p.M597L|MYCBP2_uc010aew.2_Missense_Mutation_p.M460L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77847693	77847693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77847693C>T	uc001vkf.2	-	6	836	c.745G>A	c.(745-747)GCT>ACT	p.A249T	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492418	78492418	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492418C>A	uc001vko.2	-	1	549	c.291G>T	c.(289-291)AAG>AAT	p.K97N	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K97N|EDNRB_uc010aez.1_Missense_Mutation_p.K97N|EDNRB_uc001vkp.1_Missense_Mutation_p.K180N|EDNRB_uc010afa.1_Missense_Mutation_p.K97N	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	97	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219069	79219069	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219069A>G	uc001vkw.1	-	2	195	c.136T>C	c.(136-138)TTG>CTG	p.L46L	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L46L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	46	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219087	79219087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219087T>A	uc001vkw.1	-	2	177	c.118A>T	c.(118-120)ATT>TTT	p.I40F	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.I40F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	40	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79939848	79939848	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79939848A>G	uc001vkz.2	-	9	1311	c.1297T>C	c.(1297-1299)TAT>CAT	p.Y433H	RBM26_uc001vky.2_Missense_Mutation_p.Y428H|RBM26_uc001vla.2_Missense_Mutation_p.Y428H|RBM26_uc001vkx.2_Missense_Mutation_p.Y140H	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	428					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)														---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328670	88328670	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88328670C>T	uc001vln.2	+	2	1246	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	SLITRK5_uc010tic.1_Missense_Mutation_p.R102C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	343	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92101185	92101185	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92101185A>G	uc010tif.1	+							NM_004466	NP_004457			glypican 5 precursor							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---
GPC6	10082	broad.mit.edu	37	13	93879729	93879729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:93879729C>T	uc001vlt.2	+	1	652	c.20C>T	c.(19-21)GCT>GTT	p.A7V	GPC6_uc010tig.1_Missense_Mutation_p.A7V	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	7						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)														OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95092303	95092303	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95092303G>A	uc001vlv.3	-	8	1836	c.1409C>T	c.(1408-1410)CCC>CTC	p.P470L	DCT_uc010afh.2_Missense_Mutation_p.P503L	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	470	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)														---	---	---	---
SOX21	11166	broad.mit.edu	37	13	95364135	95364135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95364135A>G	uc001vma.2	-	1	255	c.169T>C	c.(169-171)TTC>CTC	p.F57L	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	57	HMG box.				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)																	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293540	96293540	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96293540G>A	uc001vmk.2	-						DZIP1_uc001vml.2_Intron|DZIP1_uc001vmn.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97484962	97484962	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:97484962G>T	uc001vmw.2	+	2	950	c.926G>T	c.(925-927)CGC>CTC	p.R309L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	309	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)																	---	---	---	---
RAP2A	5911	broad.mit.edu	37	13	98116606	98116606	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98116606C>T	uc001vnd.2	+	2	712	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	154					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98660323	98660323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98660323A>G	uc001vnf.1	+	15	1792	c.1727A>G	c.(1726-1728)GAT>GGT	p.D576G	IPO5_uc001vne.2_Missense_Mutation_p.D594G|IPO5_uc010tik.1_Missense_Mutation_p.D451G|IPO5_uc010til.1_Missense_Mutation_p.D516G|IPO5_uc001vng.1_Missense_Mutation_p.D197G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	576					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98662198	98662198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98662198T>A	uc001vnf.1	+	16	1929	c.1864T>A	c.(1864-1866)TAC>AAC	p.Y622N	IPO5_uc001vne.2_Missense_Mutation_p.Y640N|IPO5_uc010tik.1_Missense_Mutation_p.Y497N|IPO5_uc010til.1_Missense_Mutation_p.Y562N|IPO5_uc001vng.1_Missense_Mutation_p.Y243N	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	622					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98666423	98666423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98666423A>T	uc001vne.2	+	22	2514	c.2334A>T	c.(2332-2334)GAA>GAT	p.E778D		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	760					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98671963	98671963	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98671963G>A	uc001vne.2	+	27	3199	c.3019G>A	c.(3019-3021)GTT>ATT	p.V1007I		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	989					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673356	98673356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673356A>G	uc001vne.2	+	28	3410	c.3230A>G	c.(3229-3231)AAA>AGA	p.K1077R		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1059					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RNF113B	140432	broad.mit.edu	37	13	98829068	98829068	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98829068C>A	uc001vnk.2	-	1	454	c.423G>T	c.(421-423)CGG>CGT	p.R141R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	141							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)															---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99045891	99045891	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99045891T>C	uc001vnj.2	+						FARP1_uc001vnh.2_Intron	NM_005766	NP_005757			FERM, RhoGEF, and pleckstrin domain protein 1						regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99461670	99461670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99461670G>A	uc001vnt.2	-	48	5361	c.5306C>T	c.(5305-5307)ACC>ATC	p.T1769I	DOCK9_uc001vnw.2_Missense_Mutation_p.T1768I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1746I|DOCK9_uc001vnq.2_Missense_Mutation_p.T318I|DOCK9_uc001vnr.2_Missense_Mutation_p.T412I|DOCK9_uc010tin.1_Missense_Mutation_p.T389I|DOCK9_uc001vns.2_Missense_Mutation_p.T318I|DOCK9_uc010tio.1_Missense_Mutation_p.T438I|DOCK9_uc010tip.1_Missense_Mutation_p.T479I|DOCK9_uc001vnu.1_Missense_Mutation_p.T318I|DOCK9_uc010tiq.1_Missense_Mutation_p.T724I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1769	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99476757	99476757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99476757G>A	uc001vnt.2	-	46	5083	c.5028C>T	c.(5026-5028)GGC>GGT	p.G1676G	DOCK9_uc001vnw.2_Silent_p.G1675G|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.G1653G|DOCK9_uc001vnq.2_Silent_p.G225G|DOCK9_uc001vnr.2_Silent_p.G319G|DOCK9_uc010tin.1_Silent_p.G296G|DOCK9_uc001vns.2_Silent_p.G225G|DOCK9_uc010tio.1_Silent_p.G345G|DOCK9_uc010tip.1_Silent_p.G386G|DOCK9_uc001vnu.1_Silent_p.G225G|DOCK9_uc010tiq.1_Silent_p.G631G	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1676	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99520175	99520175	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99520175G>A	uc001vnt.2	-						DOCK9_uc001vnw.2_Intron|DOCK9_uc001vnv.1_Intron|DOCK9_uc010tir.1_Intron|DOCK9_uc010tis.1_Intron|DOCK9_uc010tit.1_Intron|DOCK9_uc010tiq.1_Intron|DOCK9_uc010afu.1_Intron	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99538086	99538086	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99538086C>T	uc001vnt.2	-	20	2195	c.2140_splice	c.e20-1	p.I714_splice	DOCK9_uc001vnw.2_Splice_Site_p.I713_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.I714_splice|DOCK9_uc010tis.1_Splice_Site_p.I713_splice|DOCK9_uc010tit.1_Splice_Site_p.I714_splice|DOCK9_uc010afu.1_Splice_Site_p.I529_splice	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100617835	100617835	+	Silent	SNP	G	A	A	rs148340592	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100617835G>A	uc001vom.1	-	2	2037	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	596					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100959498	100959498	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100959498A>T	uc001voo.2	+	15	1375	c.1337A>T	c.(1336-1338)GAT>GTT	p.D446V	PCCA_uc010aga.2_Missense_Mutation_p.D420V|PCCA_uc010tiz.1_Missense_Mutation_p.D446V|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	446	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)													---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287129	101287129	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101287129C>A	uc001vou.2	-	11	1539	c.1379G>T	c.(1378-1380)CGC>CTC	p.R460L	TMTC4_uc001vot.2_Missense_Mutation_p.R479L|TMTC4_uc010tja.1_Missense_Mutation_p.R349L|TMTC4_uc001vov.1_Missense_Mutation_p.R205L|TMTC4_uc001vow.1_Missense_Mutation_p.R243L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	460	TPR 1.|Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101290265	101290265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101290265C>T	uc001vou.2	-	7	856	c.696G>A	c.(694-696)GCG>GCA	p.A232A	TMTC4_uc001vot.2_Silent_p.A251A|TMTC4_uc010tja.1_Silent_p.A121A|TMTC4_uc001vov.1_5'UTR|TMTC4_uc001vow.1_Silent_p.A15A	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	232	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101707766	101707766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101707766C>T	uc001vox.1	-	44	5287	c.5098G>A	c.(5098-5100)GTG>ATG	p.V1700M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1700	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101733920	101733920	+	Silent	SNP	C	T	T	rs151200877	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101733920C>T	uc001vox.1	-	34	4032	c.3843G>A	c.(3841-3843)ACG>ACA	p.T1281T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1281	Helical; Name=S3 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101757279	101757279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101757279C>A	uc001vox.1	-	23	2791	c.2602G>T	c.(2602-2604)GGA>TGA	p.G868*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	868	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101910797	101910797	+	Silent	SNP	C	T	T	rs140469887		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101910797C>T	uc001vox.1	-	11	1452	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	NALCN_uc001voy.2_Silent_p.A136A|NALCN_uc001voz.2_Silent_p.A421A|NALCN_uc001vpa.2_Silent_p.A421A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	421	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
C13orf27	93081	broad.mit.edu	37	13	103420632	103420632	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103420632T>C	uc001vpo.2	-	4	454	c.276A>G	c.(274-276)AAA>AAG	p.K92K	C13orf27_uc001vpn.2_Silent_p.K51K|C13orf27_uc001vpp.2_Silent_p.K51K	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	92											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107145577	107145577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107145577T>C	uc001vqi.2	-	5	838	c.813A>G	c.(811-813)ACA>ACG	p.T271T		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	271	Cytoplasmic (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107148116	107148116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107148116A>T	uc001vqi.2	-	3	504	c.479T>A	c.(478-480)ATC>AAC	p.I160N		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	160	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518877	108518877	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518877C>T	uc001vql.2	-	1	584	c.68G>A	c.(67-69)CGA>CAA	p.R23Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral to membrane	binding			skin(1)	1																		---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861796	108861796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861796A>G	uc001vqn.2	-	2	2094	c.1821T>C	c.(1819-1821)TCT>TCC	p.S607S	LIG4_uc001vqo.2_Silent_p.S607S|LIG4_uc010agg.1_Silent_p.S540S|LIG4_uc010agf.2_Silent_p.S607S|LIG4_uc001vqp.2_Silent_p.S607S	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	607					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861807	108861807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861807C>T	uc001vqn.2	-	2	2083	c.1810G>A	c.(1810-1812)GGG>AGG	p.G604R	LIG4_uc001vqo.2_Missense_Mutation_p.G604R|LIG4_uc010agg.1_Missense_Mutation_p.G537R|LIG4_uc010agf.2_Missense_Mutation_p.G604R|LIG4_uc001vqp.2_Missense_Mutation_p.G604R	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	604					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861847	108861847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861847C>T	uc001vqn.2	-	2	2043	c.1770G>A	c.(1768-1770)TGG>TGA	p.W590*	LIG4_uc001vqo.2_Nonsense_Mutation_p.W590*|LIG4_uc010agg.1_Nonsense_Mutation_p.W523*|LIG4_uc010agf.2_Nonsense_Mutation_p.W590*|LIG4_uc001vqp.2_Nonsense_Mutation_p.W590*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	590					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109438032	109438032	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109438032A>T	uc001vqt.1	+	5	617	c.491A>T	c.(490-492)GAT>GTT	p.D164V	MYO16_uc010agk.1_Missense_Mutation_p.D186V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	164	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109831918	109831918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109831918G>A	uc001vqt.1	+	34	5412	c.5286G>A	c.(5284-5286)CGG>CGA	p.R1762R	MYO16_uc010agk.1_Silent_p.R1784R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1762					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110822921	110822921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110822921C>T	uc001vqw.3	-	42	3837	c.3715G>A	c.(3715-3717)GGA>AGA	p.G1239R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1239	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110853999	110853999	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110853999A>G	uc001vqw.3	-						COL4A1_uc010agl.2_Intron	NM_001845	NP_001836			alpha 1 type IV collagen preproprotein						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111147818	111147818	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111147818A>C	uc001vqx.2	+							NM_001846	NP_001837			alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111862257	111862257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111862257T>C	uc001vrs.2	+	5	689	c.439T>C	c.(439-441)TCG>CCG	p.S147P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S126P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S97P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S44P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	147					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111927973	111927973	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111927973T>C	uc001vrs.2	+	13	1680	c.1430T>C	c.(1429-1431)CTG>CCG	p.L477P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.L456P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.L427P|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.L299P|ARHGEF7_uc001vrv.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrw.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrx.3_Missense_Mutation_p.L299P|ARHGEF7_uc010tjo.1_Missense_Mutation_p.L374P|ARHGEF7_uc010tjp.1_Missense_Mutation_p.L221P|ARHGEF7_uc010agn.1_Missense_Mutation_p.L221P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	477	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
C13orf28	122258	broad.mit.edu	37	13	113053461	113053461	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113053461G>T	uc001vsd.1	+	4	354	c.323G>T	c.(322-324)GGC>GTC	p.G108V		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	108						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)																	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113513704	113513704	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113513704C>T	uc001vsi.3	+						ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron|ATP11A_uc010ago.2_Intron	NM_015205	NP_056020			ATPase, class VI, type 11A isoform a						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113532535	113532535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113532535A>G	uc001vsi.3	+	29	3420	c.3332A>G	c.(3331-3333)AAG>AGG	p.K1111R	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1111	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113669143	113669143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113669143G>A	uc001vsu.2	+	2	339	c.317G>A	c.(316-318)CGC>CAC	p.R106H	MCF2L_uc001vsq.2_Missense_Mutation_p.R106H|MCF2L_uc010tjr.1_Missense_Mutation_p.R49H|MCF2L_uc001vsr.2_Missense_Mutation_p.R53H|MCF2L_uc001vss.3_Missense_Mutation_p.R47H|MCF2L_uc010tjs.1_Missense_Mutation_p.R47H	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	79	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)																---	---	---	---
F7	2155	broad.mit.edu	37	13	113773089	113773089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113773089G>A	uc001vsv.2	+	9	1219	c.1168G>A	c.(1168-1170)GCC>ACC	p.A390T	F7_uc001vsw.2_Missense_Mutation_p.A368T|F7_uc010tjt.1_Missense_Mutation_p.A321T	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	390	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)													---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113975975	113975975	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113975975G>A	uc001vtm.1	+	8	1328	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	LAMP1_uc010tka.1_Silent_p.A296A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	349	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)															---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114324068	114324068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114324068G>A	uc010tkf.1	+	2	874	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	256	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)															---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114531690	114531690	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114531690G>T	uc001vud.2	-						GAS6_uc001vug.2_Intron|GAS6_uc001vuf.2_Intron	NM_000820	NP_000811			growth arrest-specific 6 isoform 1 precursor						cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114537624	114537624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114537624C>T	uc001vud.2	-	8	887	c.734G>A	c.(733-735)GGC>GAC	p.G245D	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	245	EGF-like 4; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114780792	114780792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114780792T>C	uc001vui.2	-	14	1429	c.1298A>G	c.(1297-1299)TAT>TGT	p.Y433C	RASA3_uc010tkk.1_Missense_Mutation_p.Y401C|RASA3_uc001vuj.2_Missense_Mutation_p.Y50C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	433	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115009468	115009468	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115009468A>G	uc001vuk.1	+						CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249085	20249085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20249085A>G	uc010tku.1	+	1	604	c.604A>G	c.(604-606)AGT>GGT	p.S202G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296017	20296017	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296017A>T	uc010tkv.1	+	1	410	c.410A>T	c.(409-411)AAC>ATC	p.N137I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389618	20389618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389618A>G	uc010tkw.1	+	1	853	c.853A>G	c.(853-855)ATT>GTT	p.I285V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612317	20612317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20612317C>T	uc010tla.1	+	1	423	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)														---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20666363	20666363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20666363A>G	uc010tlb.1	+	1	869	c.869A>G	c.(868-870)TAC>TGC	p.Y290C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	290	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20845495	20845495	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20845495A>G	uc001vxe.2	-	41	6072	c.6032T>C	c.(6031-6033)TTC>TCC	p.F2011S	TEP1_uc010ahk.2_Missense_Mutation_p.F1354S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903S|TEP1_uc010tlh.1_Missense_Mutation_p.F349S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2011	WD 10.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846301	20846301	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846301A>C	uc001vxe.2	-	39	5643	c.5603T>G	c.(5602-5604)CTG>CGG	p.L1868R	TEP1_uc010ahk.2_Missense_Mutation_p.L1211R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L1760R|TEP1_uc010tlh.1_Missense_Mutation_p.L206R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1868	WD 6.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846985	20846985	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846985G>A	uc001vxe.2	-	37	5320	c.5280C>T	c.(5278-5280)TAC>TAT	p.Y1760Y	TEP1_uc010ahk.2_Silent_p.Y1103Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.Y1652Y|TEP1_uc010tlh.1_Silent_p.Y98Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1760	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20850794	20850794	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20850794C>T	uc001vxe.2	-	28	4168	c.4128G>A	c.(4126-4128)ACG>ACA	p.T1376T	TEP1_uc010ahk.2_Silent_p.T719T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1268T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1376	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20859807	20859807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20859807A>G	uc001vxe.2	-	13	2088	c.2048T>C	c.(2047-2049)CTG>CCG	p.L683P	TEP1_uc010ahk.2_Missense_Mutation_p.L33P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L575P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	683					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
APEX1	328	broad.mit.edu	37	14	20924885	20924885	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20924885A>T	uc001vxg.2	+	4	637	c.305A>T	c.(304-306)AAC>ATC	p.N102I	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Missense_Mutation_p.N102I|APEX1_uc001vxi.2_Missense_Mutation_p.N102I|APEX1_uc001vxj.2_Missense_Mutation_p.N102I	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	102					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)								Direct_reversal_of_damage|Other_BER_factors					---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360111	21360111	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21360111G>A	uc001vyj.2	+	2	320	c.266G>A	c.(265-267)TGC>TAC	p.C89Y		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	89					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)													---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679995	21679995	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21679995A>T	uc001vzy.2	-	7	894	c.650T>A	c.(649-651)ATT>AAT	p.I217N	HNRNPC_uc001vzw.2_Missense_Mutation_p.I204N|HNRNPC_uc001wad.2_Missense_Mutation_p.I137N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.I204N|HNRNPC_uc001waa.2_Missense_Mutation_p.I217N|HNRNPC_uc010ail.2_Missense_Mutation_p.I217N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.I204N|HNRNPC_uc001wac.2_Missense_Mutation_p.I161N|HNRNPC_uc010tlr.1_Missense_Mutation_p.I82N|HNRNPC_uc001waf.2_Missense_Mutation_p.I204N|HNRNPC_uc001wae.2_Missense_Mutation_p.I204N	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	217	Asp/Glu-rich (acidic).			I -> M (in Ref. 1 and 2).		catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860770	21860770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21860770A>G	uc001was.1	-	34	5924	c.5830T>C	c.(5830-5832)TCC>CCC	p.S1944P	CHD8_uc001war.1_Missense_Mutation_p.S1840P|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2223					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21961062T>A	uc001waz.2	+	7	1390	c.1287T>A	c.(1285-1287)GCT>GCA	p.A429A	TOX4_uc001way.2_Silent_p.A299A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.A406A|TOX4_uc010tlv.1_Silent_p.A299A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	429	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)														---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971372	21971372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21971372G>A	uc001wbc.2	-	3	759	c.667C>T	c.(667-669)CTG>TTG	p.L223L	METTL3_uc001wbb.2_Silent_p.L68L|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Silent_p.L223L|METTL3_uc001wbd.1_Silent_p.L223L	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	223					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22111776	22111776	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22111776A>T	uc001wbk.3	+	2	380	c.347A>T	c.(346-348)GAC>GTC	p.D116V						SubName: Full=Putative uncharacterized protein ENSP00000374930;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22192552	22192552	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22192552C>A	uc001wbn.2	+	2		c.455C>A								Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22204524	22204524	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22204524C>T	uc010aio.1	+	1		c.73C>T			uc001wbp.2_Silent_p.I8I|uc010aip.1_Silent_p.I8I					Homo sapiens mRNA for T cell receptor alpha variable 4, partial cds, clone: SEB 72.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22279669	22279669	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22279669T>A	uc010tmf.1	+						uc001wbv.2_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000374943;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315173	22315173	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315173G>A	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Silent_p.P18P|uc001wbz.1_Silent_p.P37P					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315190	22315190	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315190A>G	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Missense_Mutation_p.N24S|uc001wbz.1_Missense_Mutation_p.N43S					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22434047	22434047	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22434047A>C	uc001wbw.2	+						uc010tmg.1_Missense_Mutation_p.S34R|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Missense_Mutation_p.S34R					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22446920	22446920	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22446920T>G	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_5'Flank|uc010tml.1_RNA|uc010tmm.1_Missense_Mutation_p.M1R|uc010tmn.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																												OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22466369	22466369	+	Intron	SNP	G	A	A	rs138258262	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22466369G>A	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Missense_Mutation_p.R100Q|uc001wcp.2_Missense_Mutation_p.R100Q|uc001wcr.1_Missense_Mutation_p.R60Q|uc001wcs.1_Missense_Mutation_p.R60Q|uc010ajf.1_Missense_Mutation_p.R60Q|uc001wcq.2_Missense_Mutation_p.R100Q|uc010ajd.1_Missense_Mutation_p.R100Q					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22564661	22564661	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22564661G>A	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc010tmp.1_RNA|uc001wda.1_RNA					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22600556	22600556	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22600556A>G	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc010tmq.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22670518	22670518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22670518T>C	uc001wbw.2	+						uc010aiv.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Splice_Site_p.G14_splice|uc010ajm.1_Splice_Site					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22783351	22783351	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22783351A>G	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	23002485	23002485	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23002485G>A	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wde.1_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfp.2_Intron|uc001wfq.1_Intron|uc001wfr.1_Intron|uc010ajz.1_Intron|uc001wfs.1_Intron|uc001wft.1_Intron|uc001wfu.2_Intron|uc001wfv.1_Intron|uc001wfw.1_Intron|uc001wfx.2_Intron|uc001wfy.1_Intron|uc001wfz.1_Intron|uc001wgb.2_RNA|uc001wgc.2_Intron|uc001wgd.2_Intron|uc001wge.3_5'UTR|uc001wgf.2_5'Flank|uc010tmw.1_5'Flank|uc010tmx.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23239726	23239726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23239726G>A	uc001wgn.2	+	6	906	c.906G>A	c.(904-906)GTG>GTA	p.V302V	OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.V302V|OXA1L_uc001wgp.2_Silent_p.V226V|OXA1L_uc001wgq.2_Silent_p.V6V	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	242	Mitochondrial matrix (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)														---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23467914	23467914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23467914T>C	uc001wib.1	-	2	629	c.319A>G	c.(319-321)ATC>GTC	p.I107V	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.I107V|C14orf93_uc001wig.2_Missense_Mutation_p.I107V|C14orf93_uc001wih.2_Missense_Mutation_p.I107V|C14orf93_uc001wie.2_Missense_Mutation_p.I107V|C14orf93_uc001wia.3_Missense_Mutation_p.I107V|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	107						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)														---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23530297	23530297	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23530297C>A	uc001wit.3	-	18	4023	c.3695G>T	c.(3694-3696)AGC>ATC	p.S1232I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.S474I|ACIN1_uc001wiq.3_Missense_Mutation_p.S474I|ACIN1_uc001wir.3_Missense_Mutation_p.S505I|ACIN1_uc001wis.3_Missense_Mutation_p.S913I|ACIN1_uc010akg.2_Missense_Mutation_p.S1219I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1232	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745847	23745847	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23745847C>G	uc001wja.2	-	2	738	c.590G>C	c.(589-591)AGT>ACT	p.S197T	HOMEZ_uc001wjb.2_Missense_Mutation_p.S199T	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746167	23746167	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23746167T>C	uc001wja.2	-	2	418	c.270A>G	c.(268-270)CTA>CTG	p.L90L	HOMEZ_uc001wjb.2_Silent_p.L92L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	90	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855309	23855309	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23855309C>T	uc001wjv.2	-	34	5058	c.4991G>A	c.(4990-4992)CGT>CAT	p.R1664H		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1664	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23858074	23858074	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23858074T>C	uc001wjv.2	-	29	4236	c.4169A>G	c.(4168-4170)GAG>GGG	p.E1390G	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1390	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868101	23868101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23868101G>A	uc001wjv.2	-	15	1794	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	576	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874991	23874991	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874991G>A	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884255	23884255	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23884255C>T	uc001wjx.2	-	37	5614	c.5508G>A	c.(5506-5508)TCG>TCA	p.S1836S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1836	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24569212	24569212	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24569212C>T	uc001wlt.2	+	7	1156	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R354W|PCK2_uc001wls.2_Missense_Mutation_p.R342W|PCK2_uc010tnw.1_Missense_Mutation_p.R208W|PCK2_uc010ald.2_Missense_Mutation_p.P285L|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R208W|PCK2_uc001wlu.3_Missense_Mutation_p.R208W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	342					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
FITM1	161247	broad.mit.edu	37	14	24600921	24600921	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24600921C>A	uc001wmf.2	+	1	247	c.149C>A	c.(148-150)CCC>CAC	p.P50H		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	50	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24632717	24632717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24632717T>C	uc001wmq.2	+	4	622	c.495T>C	c.(493-495)AAT>AAC	p.N165N	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Silent_p.N63N	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	165					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)														---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24705334	24705334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24705334G>A	uc001wnr.2	+	5	835	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Silent_p.Q151Q|GMPR2_uc001wnt.2_Intron|GMPR2_uc001wnu.2_Silent_p.Q115Q|GMPR2_uc001wnw.2_Silent_p.Q151Q|GMPR2_uc010all.2_Silent_p.Q123Q|GMPR2_uc001wnx.2_Silent_p.Q169Q|GMPR2_uc010tod.1_Intron|GMPR2_uc010alk.1_Silent_p.Q151Q|GMPR2_uc010toe.1_Silent_p.Q151Q	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	151					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24808444	24808444	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24808444T>A	uc001wpb.2	-	3	458	c.248A>T	c.(247-249)AAC>ATC	p.N83I	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N83I	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	83	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24839280	24839280	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24839280A>T	uc001wpc.2	+	2	997	c.676A>T	c.(676-678)ACC>TCC	p.T226S	NFATC4_uc010tok.1_Missense_Mutation_p.T289S|NFATC4_uc010tol.1_Missense_Mutation_p.T289S|NFATC4_uc010alr.2_Missense_Mutation_p.T289S|NFATC4_uc010als.2_Missense_Mutation_p.T239S|NFATC4_uc010tom.1_Missense_Mutation_p.T239S|NFATC4_uc010ton.1_Missense_Mutation_p.T239S|NFATC4_uc010too.1_Missense_Mutation_p.T239S|NFATC4_uc010alt.2_Missense_Mutation_p.T258S|NFATC4_uc010top.1_Missense_Mutation_p.T258S|NFATC4_uc010toq.1_Missense_Mutation_p.T258S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.T226S|NFATC4_uc010tos.1_Missense_Mutation_p.T156S|NFATC4_uc010tot.1_Missense_Mutation_p.T214S|NFATC4_uc010tou.1_Missense_Mutation_p.T156S|NFATC4_uc010tov.1_Missense_Mutation_p.T214S|NFATC4_uc010tow.1_Missense_Mutation_p.T156S|NFATC4_uc010alv.2_Missense_Mutation_p.T214S|NFATC4_uc010tox.1_Missense_Mutation_p.T156S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	226	SP 1.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043577	25043577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25043577T>C	uc001wpq.2	-	4	505	c.468A>G	c.(466-468)ACA>ACG	p.T156T		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	156	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25044505	25044505	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25044505C>T	uc001wpq.2	-	2	206	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	57	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26918159	26918159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:26918159A>G	uc001wpy.2	-	5	848	c.530T>C	c.(529-531)ATA>ACA	p.I177T	NOVA1_uc001wpz.2_Missense_Mutation_p.I153T|NOVA1_uc001wqa.2_Missense_Mutation_p.I55T	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	180	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)														---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30068262	30068262	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30068262A>G	uc001wqh.2	-	15	2318	c.2137T>C	c.(2137-2139)TTG>CTG	p.L713L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	713	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31050312	31050312	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31050312A>G	uc001wqk.2	+	2	181	c.27A>G	c.(25-27)TCA>TCG	p.S9S	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Intron	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	9					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31071242	31071242	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31071242T>A	uc001wqk.2	+	10	1069	c.915T>A	c.(913-915)AAT>AAA	p.N305K	G2E3_uc010tpe.1_Missense_Mutation_p.N220K|G2E3_uc010tpf.1_Missense_Mutation_p.N259K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	305					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31191743	31191743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31191743A>G	uc001wqm.1	+	23	1838	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	SCFD1_uc001wqn.1_Missense_Mutation_p.Q538R|SCFD1_uc010tpg.1_Missense_Mutation_p.Q546R|SCFD1_uc010tph.1_Missense_Mutation_p.Q420R|SCFD1_uc010amf.1_Missense_Mutation_p.Q420R|SCFD1_uc010tpi.1_Missense_Mutation_p.Q513R|SCFD1_uc010ame.1_Missense_Mutation_p.R527G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	605					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31554098	31554098	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31554098G>T	uc001wqy.3	+						AP4S1_uc001wqw.3_3'UTR|AP4S1_uc001wqx.3_3'UTR|AP4S1_uc010amh.2_3'UTR|AP4S1_uc001wqz.3_Intron	NM_001128126	NP_001121598			adaptor-related protein complex 4, sigma 1							coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31856444	31856444	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31856444A>T	uc001wrf.3	-	2	269	c.192T>A	c.(190-192)TGT>TGA	p.C64*	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Nonsense_Mutation_p.C357*	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	351							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32561822	32561822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32561822G>A	uc001wrl.2	+	2	2186	c.1947G>A	c.(1945-1947)TGG>TGA	p.W649*	ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	649					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562224	32562224	+	Silent	SNP	C	T	T	rs61737878	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562224C>T	uc001wrl.2	+	2	2588	c.2349C>T	c.(2347-2349)TGC>TGT	p.C783C	ARHGAP5_uc001wrm.2_Silent_p.C783C|ARHGAP5_uc001wrn.2_Silent_p.C783C|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	783					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562668	32562668	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562668T>C	uc001wrl.2	+	2	3032	c.2793T>C	c.(2791-2793)TTT>TTC	p.F931F	ARHGAP5_uc001wrm.2_Silent_p.F931F|ARHGAP5_uc001wrn.2_Silent_p.F931F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	931					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33290606	33290606	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33290606A>G	uc001wrq.2	+	13	3759	c.3589_splice	c.e13-2	p.E1197_splice		NM_004274	NP_004265			A-kinase anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35264961	35264961	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35264961T>C	uc001wsk.2	-	10	1707	c.1139A>G	c.(1138-1140)AAG>AGG	p.K380R	BAZ1A_uc001wsl.2_Missense_Mutation_p.K380R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	380	Potential.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)														---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35487907	35487907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35487907C>T	uc001wso.2	+	12	1334	c.983C>T	c.(982-984)ACG>ATG	p.T328M	SRP54_uc010tpp.1_Missense_Mutation_p.T279M|SRP54_uc010tpq.1_Missense_Mutation_p.T264M	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	328	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780027	35780027	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780027A>G	uc001wtd.2	+	4	444	c.335A>G	c.(334-336)GAC>GGC	p.D112G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D33G|PSMA6_uc010tpu.1_Missense_Mutation_p.D33G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780041	35780041	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780041A>G	uc001wtd.2	+	4	458	c.349A>G	c.(349-351)AGA>GGA	p.R117G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.R38G|PSMA6_uc010tpu.1_Missense_Mutation_p.R38G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36143454	36143454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36143454T>C	uc001wti.2	-	23	3722	c.3331A>G	c.(3331-3333)AAC>GAC	p.N1111D	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1111D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1124D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1158D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1111					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36221254	36221254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36221254T>C	uc001wti.2	-	8	1169	c.778A>G	c.(778-780)AAC>GAC	p.N260D	RALGAPA1_uc001wtj.2_Missense_Mutation_p.N260D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N260D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N260D|RALGAPA1_uc001wtk.1_Missense_Mutation_p.N111D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	260					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36784000	36784000	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36784000A>G	uc001wtm.2	-	3	459	c.371T>C	c.(370-372)CTA>CCA	p.L124P	MBIP_uc001wto.2_Missense_Mutation_p.L124P|MBIP_uc010tpy.1_Missense_Mutation_p.Y9H|MBIP_uc001wtn.2_Missense_Mutation_p.L124P	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	124					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132275	37132275	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132275T>C	uc001wty.3	+	3	895	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	60	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132666	37132666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132666G>A	uc001wty.3	+	3	1286	c.569G>A	c.(568-570)CGC>CAC	p.R190H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	190					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37180557	37180557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37180557T>C	uc001wtz.1	-	7	879	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	190	Solcar 2.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37194876	37194876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37194876C>T	uc001wtz.1	-	6	647	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	113	Solcar 2.|Helical; Name=3; (Potential).				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37892127	37892127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37892127A>G	uc001wuc.2	+	12	1507	c.1004A>G	c.(1003-1005)GAA>GGA	p.E335G	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E304G|MIPOL1_uc001wud.2_Missense_Mutation_p.E335G|MIPOL1_uc010ams.2_Missense_Mutation_p.E335G|MIPOL1_uc001wue.2_Missense_Mutation_p.E304G|MIPOL1_uc010amt.2_Missense_Mutation_p.E154G	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	335	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969207	37969207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37969207A>G	uc001wuc.2	+	13	1629	c.1126A>G	c.(1126-1128)ATT>GTT	p.I376V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.I345V|MIPOL1_uc001wud.2_Missense_Mutation_p.I376V|MIPOL1_uc010ams.2_Missense_Mutation_p.I376V|MIPOL1_uc001wue.2_Missense_Mutation_p.I345V|MIPOL1_uc010amt.2_Missense_Mutation_p.I195V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	376	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38265994	38265994	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38265994C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.L21F|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.L21F					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38295401	38295401	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38295401C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.A292V|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.A389V					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38296418	38296418	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38296418A>G	uc001wug.2	+						uc001wuh.2_Silent_p.E348E|uc001wui.2_RNA|uc001wuj.2_Silent_p.E445E					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724773	38724773	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38724773A>T	uc001wum.1	-	1	802	c.455T>A	c.(454-456)GTC>GAC	p.V152D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	152	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39562382	39562382	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39562382T>C	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_5'Flank	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39771359	39771359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39771359G>A	uc001wvg.3	+	10	1158	c.822G>A	c.(820-822)ATG>ATA	p.M274I	CTAGE5_uc010tqe.1_Missense_Mutation_p.M236I|CTAGE5_uc001wuz.3_Missense_Mutation_p.M262I|CTAGE5_uc001wuy.3_Missense_Mutation_p.M194I|CTAGE5_uc001wvb.3_Missense_Mutation_p.M245I|CTAGE5_uc001wvc.3_Missense_Mutation_p.M219I|CTAGE5_uc001wva.3_Missense_Mutation_p.M245I|CTAGE5_uc001wve.1_Missense_Mutation_p.M250I|CTAGE5_uc001wvh.3_Missense_Mutation_p.M274I|CTAGE5_uc001wvf.3_Missense_Mutation_p.M199I|CTAGE5_uc001wvi.3_Missense_Mutation_p.M279I|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.M245I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	274							enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)														---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39871660	39871660	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39871660T>G	uc001wvk.2	-	2	993	c.655A>C	c.(655-657)AGT>CGT	p.S219R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	219											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975832	44975832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975832T>C	uc001wvn.2	-	1	668	c.359A>G	c.(358-360)AAC>AGC	p.N120S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	120						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44976056	44976056	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44976056G>T	uc001wvn.2	-	1	444	c.135C>A	c.(133-135)GCC>GCA	p.A45A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	45						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45398323	45398323	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45398323T>C	uc001wvq.2	-	5	1870	c.1624A>G	c.(1624-1626)ACA>GCA	p.T542A	KLHL28_uc001wvr.2_Missense_Mutation_p.T542A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	542	Kelch 6.									ovary(1)	1																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45432481	45432481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45432481G>A	uc001wvv.2	+	1	1066	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R286Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R286Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R286Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	286							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45433203	45433203	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45433203C>T	uc001wvv.2	+	1	1788	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	FAM179B_uc001wvw.2_Missense_Mutation_p.R527C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R527C|FAM179B_uc001wvu.2_Missense_Mutation_p.R527C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	527	HEAT 4.						binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645393	45645393	+	Missense_Mutation	SNP	G	A	A	rs142077813		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645393G>A	uc001wwd.3	+	14	3535	c.3436G>A	c.(3436-3438)GAT>AAT	p.D1146N	FANCM_uc010anf.2_Missense_Mutation_p.D1120N|FANCM_uc001wwe.3_Missense_Mutation_p.D682N|FANCM_uc010ang.2_Missense_Mutation_p.D360N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1146					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45658140	45658140	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45658140A>G	uc001wwd.3	+	20	5014	c.4915A>G	c.(4915-4917)AAA>GAA	p.K1639E	FANCM_uc010anf.2_Missense_Mutation_p.K1613E|FANCM_uc001wwe.3_Missense_Mutation_p.K1175E|FANCM_uc010ang.2_Missense_Mutation_p.K853E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1639					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665602	45665602	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665602C>A	uc001wwd.3	+	21	5667	c.5568C>A	c.(5566-5568)ATC>ATA	p.I1856I	FANCM_uc010anf.2_Silent_p.I1830I|FANCM_uc001wwe.3_Silent_p.I1392I|FANCM_uc010ang.2_Silent_p.I1105I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1856	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665650	45665650	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665650A>G	uc001wwd.3	+	21	5715	c.5616A>G	c.(5614-5616)TTA>TTG	p.L1872L	FANCM_uc010anf.2_Silent_p.L1846L|FANCM_uc001wwe.3_Silent_p.L1408L|FANCM_uc010ang.2_Silent_p.L1121L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1872	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
C14orf106	55320	broad.mit.edu	37	14	45675336	45675336	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45675336A>T	uc001wwf.2	-	15	3649	c.3190T>A	c.(3190-3192)TAT>AAT	p.Y1064N		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1064					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---
C14orf104	55172	broad.mit.edu	37	14	50101028	50101028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50101028G>A	uc001wws.3	-	1	921	c.840C>T	c.(838-840)CCC>CCT	p.P280P	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.P280P	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	280					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)													Kartagener_syndrome				---	---	---	---
SDCCAG1	9147	broad.mit.edu	37	14	50255864	50255864	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50255864C>T	uc001wxc.2	-	28	2963	c.2895G>A	c.(2893-2895)AAG>AAA	p.K965K	SDCCAG1_uc010anj.1_Silent_p.K965K|SDCCAG1_uc001wwz.2_Silent_p.K165K|SDCCAG1_uc001wxa.2_Silent_p.K245K|SDCCAG1_uc010tqi.1_Silent_p.K944K|SDCCAG1_uc001wxe.2_Silent_p.K923K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	965						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)														---	---	---	---
C14orf183	196913	broad.mit.edu	37	14	50550523	50550523	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50550523G>A	uc010tqk.1	-	5	821	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	274											0																		---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50647365	50647365	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50647365C>A	uc001wxs.3	-	7	992	c.894G>T	c.(892-894)CAG>CAT	p.Q298H	SOS2_uc010tql.1_Missense_Mutation_p.Q298H|SOS2_uc001wxt.2_Translation_Start_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	298	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50904618	50904618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50904618A>G	uc001wya.2	-	24	2137	c.1817T>C	c.(1816-1818)CTA>CCA	p.L606P	MAP4K5_uc001wyb.2_Missense_Mutation_p.L606P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	606	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)																	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51208418	51208418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51208418T>G	uc001wym.2	-	25	5521	c.5330A>C	c.(5329-5331)AAT>ACT	p.N1777T	NIN_uc001wyi.2_Missense_Mutation_p.N1777T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N1064T|NIN_uc010tqp.1_Missense_Mutation_p.N1783T|NIN_uc001wyo.2_Missense_Mutation_p.N1777T|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1777	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51210974	51210974	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51210974C>A	uc001wym.2	-	23	5365	c.5174G>T	c.(5173-5175)AGC>ATC	p.S1725I	NIN_uc001wyi.2_Missense_Mutation_p.S1725I|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.S1012I|NIN_uc010tqp.1_Missense_Mutation_p.S1731I|NIN_uc001wyo.2_Missense_Mutation_p.S1725I	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1725	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51245521	51245521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51245521T>C	uc001wym.2	-	6	628	c.437A>G	c.(436-438)CAC>CGC	p.H146R	NIN_uc001wyi.2_Missense_Mutation_p.H146R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H146R|NIN_uc010tqp.1_Missense_Mutation_p.H152R|NIN_uc001wyo.2_Missense_Mutation_p.H146R|NIN_uc001wyp.1_Missense_Mutation_p.H108R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	146					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51352376	51352376	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51352376A>G	uc001wys.2	+	6	546	c.531A>G	c.(529-531)AGA>AGG	p.R177R	ABHD12B_uc001wyq.2_Silent_p.R70R|ABHD12B_uc001wyr.2_Silent_p.R100R|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	177							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)																	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52194524	52194524	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52194524G>A	uc001wzd.2	+	14	1931	c.1646G>A	c.(1645-1647)AGA>AAA	p.R549K	FRMD6_uc001wzb.2_Missense_Mutation_p.R541K|FRMD6_uc001wzc.2_Missense_Mutation_p.R541K|FRMD6_uc001wze.2_Missense_Mutation_p.R472K|FRMD6_uc001wzf.2_Missense_Mutation_p.R242K|FRMD6_uc001wzg.2_Missense_Mutation_p.R191K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	549						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52495506	52495506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52495506G>A	uc001wzo.2	-	11	2698	c.2464C>T	c.(2464-2466)CCT>TCT	p.P822S	NID2_uc010tqs.1_Missense_Mutation_p.P822S|NID2_uc010tqt.1_Missense_Mutation_p.P822S|NID2_uc001wzp.2_Missense_Mutation_p.P822S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	822	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534616	52534616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52534616G>A	uc001wzo.2	-	2	728	c.494C>T	c.(493-495)GCT>GTT	p.A165V	NID2_uc010tqs.1_Missense_Mutation_p.A165V|NID2_uc010tqt.1_Missense_Mutation_p.A165V|NID2_uc001wzp.2_Missense_Mutation_p.A165V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	165	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52535718	52535718	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52535718C>T	uc001wzo.2	-	1					NID2_uc010tqs.1_5'UTR|NID2_uc010tqt.1_5'UTR|NID2_uc001wzp.2_5'UTR	NM_007361	NP_031387			nidogen 2 precursor							basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52949652	52949652	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52949652A>G	uc001wzs.2	-	13	1589	c.1140T>C	c.(1138-1140)GTT>GTC	p.V380V	TXNDC16_uc010tqu.1_Silent_p.V375V|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	380					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52981596	52981596	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52981596A>G	uc001wzs.2	-	8	1054	c.605_splice	c.e8+1	p.G202_splice	TXNDC16_uc010tqu.1_Splice_Site_p.G197_splice|TXNDC16_uc010aoe.2_Splice_Site	NM_020784	NP_065835			thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53226484	53226484	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53226484T>C	uc010tqy.1	+						STYX_uc001xaa.2_Intron	NM_001130701	NP_001124173			serine/threonine/tyrosine interacting protein						protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)																	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53570477	53570477	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53570477A>T	uc001xai.2	-	2	1166	c.936T>A	c.(934-936)CAT>CAA	p.H312Q	DDHD1_uc001xaj.2_Missense_Mutation_p.H312Q|DDHD1_uc001xah.2_Missense_Mutation_p.H312Q	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	312					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)																	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54418876	54418876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54418876C>T	uc001xal.3	-	2	252	c.65G>A	c.(64-66)AGC>AAC	p.S22N	BMP4_uc010aoh.2_Missense_Mutation_p.S22N|BMP4_uc001xao.3_Missense_Mutation_p.S22N|BMP4_uc001xan.3_Missense_Mutation_p.S22N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	22					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510474	55510474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510474A>G	uc001xbo.2	+	3	1280	c.715A>G	c.(715-717)ACA>GCA	p.T239A	SOCS4_uc001xbp.2_Missense_Mutation_p.T239A	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	239					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510709	55510709	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510709A>G	uc001xbo.2	+	3	1515	c.950A>G	c.(949-951)GAC>GGC	p.D317G	SOCS4_uc001xbp.2_Missense_Mutation_p.D317G	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	317	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
LGALS3	3958	broad.mit.edu	37	14	55609411	55609411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55609411T>C	uc001xbr.2	+	5	692	c.541T>C	c.(541-543)TGG>CGG	p.W181R		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	181	Beta-galactoside binding (By similarity).|Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0																		---	---	---	---
TBPL2	387332	broad.mit.edu	37	14	55907245	55907245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55907245G>A	uc001xby.2	-	1	19	c.19C>T	c.(19-21)CCG>TCG	p.P7S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57070532	57070532	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57070532G>A	uc001xcm.2	+	4	467	c.345_splice	c.e4-1	p.R115_splice	C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xck.2_Splice_Site_p.R115_splice|C14orf101_uc010aot.1_Splice_Site_p.R115_splice|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269			hypothetical protein LOC54916							integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57088287	57088287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57088287T>C	uc001xcm.2	+	11	1387	c.1265T>C	c.(1264-1266)TTC>TCC	p.F422S	C14orf101_uc001xcj.2_Intron|C14orf101_uc001xcl.1_Intron|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron|C14orf101_uc001xco.2_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	422						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
OTX2	5015	broad.mit.edu	37	14	57271037	57271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57271037G>A	uc001xcp.2	-	2	289	c.118C>T	c.(118-120)CGG>TGG	p.R40W	OTX2_uc010aou.2_Missense_Mutation_p.R40W|OTX2_uc001xcq.2_Missense_Mutation_p.R48W	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	40	Homeobox.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)																	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57713439	57713439	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57713439T>C	uc001xct.2	-	3	511	c.260A>G	c.(259-261)AAA>AGA	p.K87R	EXOC5_uc010trg.1_Missense_Mutation_p.K32R|EXOC5_uc010trh.1_Missense_Mutation_p.K87R	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	87	Potential.				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57876098	57876098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57876098T>C	uc001xcx.3	+	5	1107	c.953T>C	c.(952-954)GTT>GCT	p.V318A	NAA30_uc010trk.1_Missense_Mutation_p.V60A|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	318	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1																		---	---	---	---
SLC35F4	341880	broad.mit.edu	37	14	58038710	58038710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58038710C>T	uc001xdb.1	-	5	943	c.943G>A	c.(943-945)GGC>AGC	p.G315S	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.G156S	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2																		---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58701258	58701258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58701258A>G	uc001xdf.2	+	13	1346	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.T217A|ACTR10_uc001xdh.2_Missense_Mutation_p.T217A|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.T205A	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	415						cytoplasm				central_nervous_system(1)	1																		---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58917322	58917322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58917322G>T	uc001xdv.3	+	8	1260	c.987G>T	c.(985-987)ACG>ACT	p.T329T	KIAA0586_uc010trr.1_Silent_p.T370T|KIAA0586_uc001xdt.3_Silent_p.T285T|KIAA0586_uc001xdu.3_Silent_p.T314T|KIAA0586_uc010trs.1_Silent_p.T244T|KIAA0586_uc010trt.1_Silent_p.T189T|KIAA0586_uc010tru.1_Silent_p.T189T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	329										ovary(1)	1																		---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112846	59112846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59112846T>C	uc001xdw.2	+	4	1669	c.1505T>C	c.(1504-1506)GTT>GCT	p.V502A	DACT1_uc010trv.1_Missense_Mutation_p.V221A|DACT1_uc001xdx.2_Missense_Mutation_p.V465A|DACT1_uc010trw.1_Missense_Mutation_p.V221A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	502					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5																		---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097159	60097159	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097159A>T	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60574744	60574744	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60574744C>A	uc001xer.3	+						C14orf135_uc001xeq.2_Intron	NM_022495	NP_071940			hepatitis C virus F protein-binding protein 2							integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60581930	60581930	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60581930A>G	uc001xer.3	+	3	928	c.406A>G	c.(406-408)ACT>GCT	p.T136A	C14orf135_uc001xeq.2_Missense_Mutation_p.T136A	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	370	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60585237	60585237	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60585237T>C	uc001xer.3	+	6	1589	c.1067T>C	c.(1066-1068)TTA>TCA	p.L356S	C14orf135_uc001xeq.2_Missense_Mutation_p.L356S|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	590						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60903672	60903672	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60903672T>G	uc001xez.3	-	18	1765	c.1655A>C	c.(1654-1656)GAT>GCT	p.D552A	C14orf39_uc010apo.2_Missense_Mutation_p.D263A	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	552										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)														---	---	---	---
SIX6	4990	broad.mit.edu	37	14	60976477	60976477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60976477C>T	uc001xfa.3	+	1	540	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	121					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)														---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115821	61115821	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61115821G>A	uc001xfb.3	-	1	335	c.87C>T	c.(85-87)CGC>CGT	p.R29R		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	29					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)														---	---	---	---
MNAT1	4331	broad.mit.edu	37	14	61346478	61346478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61346478T>C	uc001xfd.2	+	7	845	c.734T>C	c.(733-735)CTG>CCG	p.L245P	MNAT1_uc001xfe.2_Missense_Mutation_p.L203P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	245					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)									Direct_reversal_of_damage|NER					---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61442854	61442854	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61442854G>A	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61995940	61995940	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61995940A>G	uc001xfn.2	+						PRKCH_uc010tsa.1_Intron|PRKCH_uc010tsb.1_Intron	NM_006255	NP_006246			protein kinase C, eta						intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62261657	62261657	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62261657A>T	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63842769	63842769	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63842769C>T	uc001xgd.1	-	14	1952	c.1362G>A	c.(1360-1362)GAG>GAA	p.E454E	PPP2R5E_uc010tsf.1_Silent_p.E378E|PPP2R5E_uc010tsg.1_Silent_p.E378E|PPP2R5E_uc001xge.2_Silent_p.E454E|PPP2R5E_uc010tsh.1_Silent_p.E449E	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	454					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63881929	63881929	+	Nonsense_Mutation	SNP	G	A	A	rs10133826	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63881929G>A	uc001xgd.1	-	5	1068	c.478C>T	c.(478-480)CGA>TGA	p.R160*	PPP2R5E_uc010tsf.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc010tsg.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc001xge.2_Nonsense_Mutation_p.R160*|PPP2R5E_uc010tsh.1_Nonsense_Mutation_p.R160*|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	160					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64608200	64608200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64608200C>T	uc001xgm.2	+	81	15348	c.15118C>T	c.(15118-15120)CTC>TTC	p.L5040F	SYNE2_uc001xgl.2_Missense_Mutation_p.L5040F|SYNE2_uc010apy.2_Missense_Mutation_p.L1425F|SYNE2_uc001xgn.2_Missense_Mutation_p.L2F|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5040	Spectrin 1.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64676135	64676135	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64676135G>A	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'UTR	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64902392	64902392	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64902392A>G	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
AKAP5	9495	broad.mit.edu	37	14	64936006	64936006	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64936006G>A	uc001xhd.3	+	2	1272	c.894G>A	c.(892-894)GAG>GAA	p.E298E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	298					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)														---	---	---	---
GPX2	2877	broad.mit.edu	37	14	65406199	65406199	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65406199T>A	uc010tsn.1	-	3					CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074			glutathione peroxidase 2						response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)													---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65521297	65521297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65521297C>T	uc001xia.2	+	11	1237	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C	FNTB_uc010tsl.1_Missense_Mutation_p.R392C|FNTB_uc010tsm.1_Missense_Mutation_p.R312C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.R114C|FNTB_uc010tso.1_Missense_Mutation_p.R273C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	358	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67589003	67589003	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67589003G>T	uc001xiy.2	+	16	2679	c.1558G>T	c.(1558-1560)GGG>TGG	p.G520W	GPHN_uc001xix.2_Missense_Mutation_p.G553W|GPHN_uc010tss.1_Missense_Mutation_p.G566W|GPHN_uc010tst.1_Missense_Mutation_p.G489W|GPHN_uc010tsu.1_Missense_Mutation_p.G443W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	520	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67626205	67626205	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67626205G>T	uc001xiy.2	+	18	2932	c.1811G>T	c.(1810-1812)GGC>GTC	p.G604V	GPHN_uc001xix.2_Missense_Mutation_p.G637V|GPHN_uc010tss.1_Missense_Mutation_p.G650V|GPHN_uc010tst.1_Missense_Mutation_p.G573V|GPHN_uc010tsu.1_Missense_Mutation_p.G527V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	604	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787971	67787971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67787971A>G	uc001xjc.2	+	13	2201	c.1735A>G	c.(1735-1737)ACA>GCA	p.T579A	MPP5_uc001xjd.2_Missense_Mutation_p.T545A|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	579	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)														---	---	---	---
PLEK2	26499	broad.mit.edu	37	14	67859098	67859098	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67859098A>G	uc001xjh.1	-	6	768	c.716T>C	c.(715-717)CTG>CCG	p.L239P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	239					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)														---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68044777	68044777	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68044777C>T	uc001xjl.1	+	19	2754	c.2612C>T	c.(2611-2613)GCC>GTC	p.A871V	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A439V|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A386V|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	871	MyTH4.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GALNTL1	57452	broad.mit.edu	37	14	69795187	69795187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69795187C>T	uc010aqu.1	+	6	682	c.589C>T	c.(589-591)CGT>TGT	p.R197C	GALNTL1_uc001xla.1_Missense_Mutation_p.R197C|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)														---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70263858	70263858	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70263858G>A	uc001xlr.2	-	1	149	c.15C>T	c.(13-15)AAC>AAT	p.N5N		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	5					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)														---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70517823	70517823	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70517823G>A	uc001xly.2	-	6	2787	c.2033C>T	c.(2032-2034)ACT>ATT	p.T678I	SLC8A3_uc001xlu.2_Missense_Mutation_p.T35I|SLC8A3_uc001xlv.2_Missense_Mutation_p.T49I|SLC8A3_uc001xlw.2_Missense_Mutation_p.T675I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T676I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T672I|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.T35I	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	678	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)														---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70924308	70924308	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70924308C>A	uc001xmd.2	+	1	92	c.92C>A	c.(91-93)GCT>GAT	p.A31D		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	31					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)														---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70989594	70989594	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70989594A>G	uc001xme.2	-	2	2276	c.2031T>C	c.(2029-2031)AGT>AGC	p.S677S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	627	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71429014	71429014	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71429014G>T	uc001xmo.2	+	3	880	c.434G>T	c.(433-435)AGA>ATA	p.R145I	PCNX_uc001xmn.3_Missense_Mutation_p.R145I|PCNX_uc010are.1_Missense_Mutation_p.R145I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	145						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71435739	71435739	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71435739A>G	uc001xmo.2	+	5	962	c.516A>G	c.(514-516)GGA>GGG	p.G172G	PCNX_uc001xmn.3_Silent_p.G172G|PCNX_uc010are.1_Silent_p.G172G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	172						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444774	71444774	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71444774T>C	uc001xmo.2	+	6	2166	c.1720T>C	c.(1720-1722)TCA>CCA	p.S574P	PCNX_uc001xmn.3_Missense_Mutation_p.S574P|PCNX_uc010are.1_Missense_Mutation_p.S574P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	574						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71571997	71571997	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71571997T>C	uc001xmo.2	+	33	6587	c.6141T>C	c.(6139-6141)ATT>ATC	p.I2047I	PCNX_uc010are.1_Silent_p.I1936I|PCNX_uc010arf.1_Silent_p.I835I|PCNX_uc001xmp.2_Silent_p.I131I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2047						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72055054	72055054	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72055054G>T	uc001xms.2	+	2	813	c.465G>T	c.(463-465)ATG>ATT	p.M155I	SIPA1L1_uc001xmt.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.M155I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	155					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72152235	72152235	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72152235T>A	uc001xms.2	+	10	3609	c.3261T>A	c.(3259-3261)AGT>AGA	p.S1087R	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1087R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S562R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1087					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72936781	72936781	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72936781G>T	uc001xna.3	+	8	1049	c.526G>T	c.(526-528)GCA>TCA	p.A176S	RGS6_uc010ttn.1_Missense_Mutation_p.A176S|RGS6_uc001xmx.3_Missense_Mutation_p.A176S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.A176S|RGS6_uc010ttp.1_Missense_Mutation_p.A107S|RGS6_uc001xmz.1_Missense_Mutation_p.A37S|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	176					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)														---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73181139	73181139	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73181139A>G	uc001xnc.2	-	6	609	c.596T>C	c.(595-597)GTC>GCC	p.V199A	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V199A|DPF3_uc010ttq.1_Missense_Mutation_p.V209A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	199	C2H2-type.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73750839	73750839	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73750839T>C	uc001xny.1	-	10	1219	c.899A>G	c.(898-900)GAG>GGG	p.E300G	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.E300G|NUMB_uc001xnz.1_Missense_Mutation_p.E289G|NUMB_uc001xob.1_Missense_Mutation_p.E289G|NUMB_uc001xod.1_Missense_Mutation_p.E300G|NUMB_uc001xoc.1_Missense_Mutation_p.E300G|NUMB_uc010ars.1_Missense_Mutation_p.E289G|NUMB_uc001xof.1_Missense_Mutation_p.E264G|NUMB_uc010ttz.1_Missense_Mutation_p.E46G	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	300					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73945354	73945354	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73945354G>T	uc010tua.1	-	18	3307	c.2897C>A	c.(2896-2898)CCC>CAC	p.P966H	uc001xoi.1_RNA	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	74008409	74008409	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74008409T>A	uc010tua.1	-						ACOT1_uc001xol.1_Intron|ACOT1_uc010tuc.1_Intron	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74040291	74040291	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74040291C>T	uc001xon.3	+	2	1016	c.843C>T	c.(841-843)CCC>CCT	p.P281P	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Silent_p.P84P	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74128725	74128725	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74128725T>A	uc001xoq.3	+	4	353	c.188T>A	c.(187-189)ATT>AAT	p.I63N	DNAL1_uc010aru.2_Missense_Mutation_p.I24N|DNAL1_uc010arv.2_RNA	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	63	LRR 1.										0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74205679	74205679	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74205679G>A	uc001xot.2	-	2	1816	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	C14orf43_uc001xou.2_Missense_Mutation_p.R345C|C14orf43_uc010tud.1_Missense_Mutation_p.R345C|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206622	74206622	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206622A>G	uc001xot.2	-	2	873	c.90T>C	c.(88-90)CCT>CCC	p.P30P	C14orf43_uc001xou.2_Silent_p.P30P|C14orf43_uc010tud.1_Silent_p.P30P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206623	74206623	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206623G>A	uc001xot.2	-	2	872	c.89C>T	c.(88-90)CCT>CTT	p.P30L	C14orf43_uc001xou.2_Missense_Mutation_p.P30L|C14orf43_uc010tud.1_Missense_Mutation_p.P30L|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
COQ6	51004	broad.mit.edu	37	14	74416672	74416672	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74416672T>C	uc001xph.2	+						FAM161B_uc001xpd.1_Intron|COQ6_uc001xpe.2_5'UTR|COQ6_uc001xpf.2_5'UTR|COQ6_uc010tuk.1_5'UTR|COQ6_uc010tul.1_5'Flank|COQ6_uc010tum.1_5'Flank|COQ6_uc010tun.1_5'Flank|COQ6_uc001xpg.2_5'Flank	NM_182476	NP_872282			coenzyme Q6 homolog isoform a						ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)														---	---	---	---
ALDH6A1	4329	broad.mit.edu	37	14	74534085	74534085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74534085G>A	uc001xpo.2	-	8	1139	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.A192V|ALDH6A1_uc010tuq.1_Missense_Mutation_p.A334V	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	347						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)													---	---	---	---
ABCD4	5826	broad.mit.edu	37	14	74758990	74758990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74758990G>A	uc001xpr.2	-	11	1270	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	ABCD4_uc001xps.2_Missense_Mutation_p.T214I|ABCD4_uc001xpt.2_Missense_Mutation_p.T214I|ABCD4_uc010tur.1_Missense_Mutation_p.T269I|ABCD4_uc001xpu.2_Missense_Mutation_p.T110I|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	373						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)														---	---	---	---
C14orf115	55237	broad.mit.edu	37	14	74824569	74824569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74824569G>A	uc001xpw.3	+	2	1274	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	361					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)														---	---	---	---
TMEM90A	646658	broad.mit.edu	37	14	74874616	74874616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74874616G>A	uc001xpx.2	-	3	742	c.494C>T	c.(493-495)ACT>ATT	p.T165I		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	165	Helical; (Potential).				response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74975558	74975558	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74975558C>T	uc001xqa.2	-	23	3888	c.3501G>A	c.(3499-3501)CAG>CAA	p.Q1167Q		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1167	EGF-like 11; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75019682	75019682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75019682A>G	uc001xqa.2	-	5	1492	c.1105T>C	c.(1105-1107)TGT>CGT	p.C369R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	369					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75078162	75078162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75078162C>T	uc001xqa.2	-	1	873	c.486G>A	c.(484-486)CGG>CGA	p.R162R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	162					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75264547	75264547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75264547G>A	uc001xqj.3	+	5	2671	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---
PGF	5228	broad.mit.edu	37	14	75413078	75413078	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75413078T>C	uc001xqz.2	-						PGF_uc001xra.2_Intron|PGF_uc001xrb.2_Intron	NM_002632	NP_002623			placental growth factor, vascular endothelial						angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00668)												OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513923	75513923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75513923A>G	uc001xrd.1	-	2	2652	c.2436T>C	c.(2434-2436)AGT>AGC	p.S812S	MLH3_uc001xre.1_Silent_p.S812S|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	812					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76107378	76107378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76107378C>T	uc001xrs.2	+	7	1692	c.1316C>T	c.(1315-1317)TCC>TTC	p.S439F	FLVCR2_uc010tvd.1_Missense_Mutation_p.S234F	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	439	Helical; (Potential).			S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76429788	76429788	+	Missense_Mutation	SNP	C	T	T	rs142069844		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76429788C>T	uc001xsc.2	-	5	1653	c.797G>A	c.(796-798)CGC>CAC	p.R266H	TGFB3_uc001xsd.2_Missense_Mutation_p.R264H	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	266					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76437504	76437504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76437504A>T	uc001xsc.2	-	3	1467	c.611T>A	c.(610-612)GTC>GAC	p.V204D	TGFB3_uc001xsd.2_Missense_Mutation_p.V202D	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	204					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77273842	77273842	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77273842G>T	uc001xsv.2	-	4	993	c.880C>A	c.(880-882)CTG>ATG	p.L294M	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	294										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)														---	---	---	---
C14orf4	64207	broad.mit.edu	37	14	77492964	77492964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77492964C>T	uc001xsy.2	-	1	2071	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	391						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)														---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77715740	77715740	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77715740G>T	uc001xtf.2	+	21	2189	c.1977G>T	c.(1975-1977)CAG>CAT	p.Q659H	TMEM63C_uc010asq.1_Missense_Mutation_p.Q659H	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	659	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)														---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77794333	77794333	+	Missense_Mutation	SNP	G	A	A	rs140540096	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77794333G>A	uc001xtj.2	+	5	577	c.295G>A	c.(295-297)GTG>ATG	p.V99M	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.V44M|GSTZ1_uc001xtm.2_Missense_Mutation_p.V44M	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	99	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77797487	77797487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77797487G>T	uc001xtj.2	+	9	882	c.600G>T	c.(598-600)CAG>CAT	p.Q200H	GSTZ1_uc001xtk.2_Missense_Mutation_p.Q158H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q145H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q145H	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	200	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77942198	77942198	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77942198T>C	uc001xtz.2	-	7	1530	c.1456A>G	c.(1456-1458)ACA>GCA	p.T486A	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.T398A|ISM2_uc010tvl.1_Missense_Mutation_p.T405A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	486	AMOP.					extracellular region				skin(1)	1																		---	---	---	---
ADCK1	57143	broad.mit.edu	37	14	78285417	78285417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78285417T>C	uc001xui.2	+	2	195	c.96T>C	c.(94-96)AAT>AAC	p.N32N	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.N32N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	32						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)														---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80677662	80677662	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80677662G>A	uc010tvq.1	-	2	556	c.154C>T	c.(154-156)CGG>TGG	p.R52W	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52W|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52W|DIO2_uc010tvr.1_Missense_Mutation_p.R52W|DIO2_uc010asy.2_Missense_Mutation_p.R52W	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	52					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)														---	---	---	---
C14orf145	145508	broad.mit.edu	37	14	81259148	81259148	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81259148T>A	uc001xux.2	-	13	1687	c.1516A>T	c.(1516-1518)AAA>TAA	p.K506*	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	506	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81574744	81574744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81574744A>G	uc001xvd.1	+	8	796	c.640A>G	c.(640-642)ACA>GCA	p.T214A	TSHR_uc001xvb.1_Missense_Mutation_p.T214A|TSHR_uc001xvc.2_Missense_Mutation_p.T214A|TSHR_uc010tvs.1_Missense_Mutation_p.T214A	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	214	Extracellular (Potential).|LRR 5.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81662516	81662516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81662516A>G	uc001xvf.1	-	6	980	c.548T>C	c.(547-549)GTT>GCT	p.V183A	GTF2A1_uc010atb.1_Missense_Mutation_p.V133A|GTF2A1_uc001xvg.1_Missense_Mutation_p.V144A	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	183					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81943446	81943446	+	Missense_Mutation	SNP	G	A	A	rs141918133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81993276	81993276	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81993276G>A	uc010tvv.1	-	3	258	c.141C>T	c.(139-141)GAC>GAT	p.D47D	SEL1L_uc001xvo.3_Silent_p.D47D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	47	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088684	86088684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088684C>T	uc001xvr.2	+	2	1593	c.826C>T	c.(826-828)CGT>TGT	p.R276C	FLRT2_uc010atd.2_Missense_Mutation_p.R276C	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	276	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089822	86089822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86089822T>C	uc001xvr.2	+	2	2731	c.1964T>C	c.(1963-1965)CTG>CCG	p.L655P	FLRT2_uc010atd.2_Missense_Mutation_p.L655P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	655	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88946074	88946074	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88946074T>G	uc001xwv.3	-	13	2032	c.1701A>C	c.(1699-1701)CCA>CCC	p.P567P	PTPN21_uc010twc.1_Silent_p.P363P	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	567	Poly-Pro.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89123818	89123818	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89123818A>G	uc001xxg.2	-	28	4092	c.3906T>C	c.(3904-3906)AAT>AAC	p.N1302N	EML5_uc001xxf.2_Silent_p.N97N|EML5_uc001xxh.1_Silent_p.N441N	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1302						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89171305	89171305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89171305T>C	uc001xxg.2	-	14	2136	c.1950A>G	c.(1948-1950)CTA>CTG	p.L650L	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	650						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89206880	89206880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89206880G>A	uc001xxg.2	-	6	748	c.562C>T	c.(562-564)CGA>TGA	p.R188*		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	188						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89338740	89338740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89338740G>A	uc010ath.2	+	13	1473	c.1339G>A	c.(1339-1341)GCC>ACC	p.A447T	TTC8_uc001xxl.2_Missense_Mutation_p.A192T|TTC8_uc010ati.2_Missense_Mutation_p.A233T|TTC8_uc001xxm.2_Missense_Mutation_p.A391T|TTC8_uc010atj.2_Missense_Mutation_p.A166T|TTC8_uc001xxi.2_Missense_Mutation_p.A431T|TTC8_uc001xxj.2_Missense_Mutation_p.A421T|TTC8_uc001xxk.2_Missense_Mutation_p.A391T	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	457	TPR 8.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90442125	90442125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90442125G>A	uc001xxy.2	+	7	1056	c.757G>A	c.(757-759)GCA>ACA	p.A253T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A253T|TDP1_uc010atn.2_Missense_Mutation_p.A253T|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A253T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	253					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)									Repair_of_DNA-protein_crosslinks					---	---	---	---
PSMC1	5700	broad.mit.edu	37	14	90734649	90734649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90734649A>G	uc001xyf.2	+	8	821	c.773A>G	c.(772-774)AAG>AGG	p.K258R	PSMC1_uc001xyg.2_Missense_Mutation_p.K185R|PSMC1_uc001xyh.2_Missense_Mutation_p.K185R|PSMC1_uc010twh.1_Missense_Mutation_p.K185R	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	258					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
C14orf102	55051	broad.mit.edu	37	14	90754929	90754929	+	Silent	SNP	C	T	T	rs142936620	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90754929C>T	uc001xyi.1	-	11	2821	c.2790G>A	c.(2788-2790)GTG>GTA	p.V930V	C14orf102_uc010atp.1_Silent_p.V435V|C14orf102_uc001xyj.1_Silent_p.V699V|C14orf102_uc001xyk.1_Silent_p.V122V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	930							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91211165	91211165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91211165C>T	uc001xyp.2	-	4	669	c.547G>A	c.(547-549)GCA>ACA	p.A183T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	183							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91247091	91247091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91247091C>T	uc001xyp.2	-	3	558	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	146							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91639673	91639673	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91639673C>A	uc001xzb.2	+	8	1250	c.482C>A	c.(481-483)CCT>CAT	p.P161H	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.P166H|C14orf159_uc001xyx.2_Missense_Mutation_p.P161H|C14orf159_uc001xyw.2_Missense_Mutation_p.P166H|C14orf159_uc001xzc.2_Missense_Mutation_p.P161H|C14orf159_uc001xza.2_Missense_Mutation_p.P166H|C14orf159_uc001xyv.2_Missense_Mutation_p.P166H|C14orf159_uc001xyz.2_Missense_Mutation_p.P37H|C14orf159_uc001xze.2_Missense_Mutation_p.P161H	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	161						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)												OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91701388	91701388	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91701388T>A	uc001xzg.2	-	2	348	c.7A>T	c.(7-9)AAC>TAC	p.N3Y	GPR68_uc001xzh.2_Missense_Mutation_p.N13Y	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	3	Extracellular (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91804375	91804375	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91804375C>T	uc010aty.2	-	10	1123	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	342	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)																---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102891	92102891	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92102891G>T	uc001xzs.1	-	17	1760	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)																---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92258726	92258726	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92258726T>C	uc001xzu.3	-	9	1223	c.1032A>G	c.(1030-1032)CCA>CCG	p.P344P	TC2N_uc001xzt.3_Silent_p.P344P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.P344P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	344						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
FBLN5	10516	broad.mit.edu	37	14	92353637	92353637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92353637G>A	uc001xzx.3	-	7	1112	c.639C>T	c.(637-639)ACC>ACT	p.T213T	FBLN5_uc010aud.2_Silent_p.T218T|FBLN5_uc010aue.2_Silent_p.T254T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	213	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)																---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471782	92471782	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92471782C>T	uc001xzy.2	-	11	3326	c.2538G>A	c.(2536-2538)CAG>CAA	p.Q846Q	TRIP11_uc010auf.1_Silent_p.Q582Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	846	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
NDUFB1	4707	broad.mit.edu	37	14	92583937	92583937	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92583937A>C	uc001yaf.2	-	2	218	c.186T>G	c.(184-186)GTT>GTG	p.V62V		NM_004545	NP_004536	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	15	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)													---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93043784	93043784	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93043784C>T	uc001yap.2	+	3	481	c.329C>T	c.(328-330)GCC>GTC	p.A110V	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.A35V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154423	93154423	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154423C>T	uc001yap.2	+	10	2936	c.2784C>T	c.(2782-2784)GAC>GAT	p.D928D	RIN3_uc010auk.2_Silent_p.D590D|RIN3_uc001yaq.2_Silent_p.D853D	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	928	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154499	93154499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154499C>T	uc001yap.2	+	10	3012	c.2860C>T	c.(2860-2862)CGC>TGC	p.R954C	RIN3_uc010auk.2_Missense_Mutation_p.R616C|RIN3_uc001yaq.2_Missense_Mutation_p.R879C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	954	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93176081	93176081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93176081A>G	uc001yav.2	-	12	1282	c.956T>C	c.(955-957)CTG>CCG	p.L319P	LGMN_uc001yat.2_Missense_Mutation_p.L319P|LGMN_uc001yau.2_Missense_Mutation_p.L319P|LGMN_uc001yaw.2_Missense_Mutation_p.L319P|LGMN_uc010aul.2_Missense_Mutation_p.L200P|LGMN_uc001yax.2_Missense_Mutation_p.L319P|LGMN_uc001yay.2_Missense_Mutation_p.L319P	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	319					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93180773	93180773	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93180773A>C	uc001yav.2	-	7	754	c.428T>G	c.(427-429)ATT>AGT	p.I143S	LGMN_uc001yat.2_Missense_Mutation_p.I143S|LGMN_uc001yau.2_Missense_Mutation_p.I143S|LGMN_uc001yaw.2_Missense_Mutation_p.I143S|LGMN_uc010aul.2_Missense_Mutation_p.I24S|LGMN_uc001yax.2_Missense_Mutation_p.I143S|LGMN_uc001yay.2_Missense_Mutation_p.I143S	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	143					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)												OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650419	93650419	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93650419T>C	uc001ybj.2	-	3	539	c.169A>G	c.(169-171)AGG>GGG	p.R57G	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	57					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)														---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761249	93761249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93761249G>A	uc001ybo.2	-	3	443	c.117C>T	c.(115-117)TGC>TGT	p.C39C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Silent_p.C39C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	39										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94069685	94069685	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94069685T>C	uc001ybv.1	+	23	3227	c.3144T>C	c.(3142-3144)CGT>CGC	p.R1048R	KIAA1409_uc001ybs.1_Silent_p.R1048R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1225						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94079437	94079437	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94079437T>C	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94087327	94087327	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94087327A>G	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94420793	94420793	+	Silent	SNP	G	A	A	rs146382240	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94420793G>A	uc001ycc.1	-	2	693	c.204C>T	c.(202-204)GGC>GGT	p.G68G	ASB2_uc001ycd.2_Silent_p.G116G|ASB2_uc001yce.1_Silent_p.G14G	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	68	ANK 1.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)														---	---	---	---
IFI27L1	122509	broad.mit.edu	37	14	94568278	94568278	+	Silent	SNP	C	T	T	rs150611249	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94568278C>T	uc001ycl.2	+	4	388	c.180C>T	c.(178-180)GGC>GGT	p.G60G	IFI27L1_uc001yck.2_Silent_p.G60G	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	60	Helical; (Potential).					integral to membrane					0																		---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94780965	94780965	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94780965G>T	uc001ycv.2	-	2	125	c.21C>A	c.(19-21)ACC>ACA	p.T7T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	7					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)													---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95562437	95562437	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95562437C>T	uc001ydw.2	-	24	5002	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q	DICER1_uc010avh.1_Missense_Mutation_p.R505Q|DICER1_uc001ydv.2_Missense_Mutation_p.R1597Q|DICER1_uc001ydx.2_Missense_Mutation_p.R1607Q|DICER1_uc001ydy.1_Missense_Mutation_p.R459Q	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1607					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95690184	95690184	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95690184T>C	uc001yef.2	-	3	269	c.153A>G	c.(151-153)CCA>CCG	p.P51P		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	51	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)														---	---	---	---
C14orf49	161176	broad.mit.edu	37	14	95923565	95923565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95923565G>A	uc001yei.3	-	4	753	c.738C>T	c.(736-738)TGC>TGT	p.C246C	C14orf49_uc010avi.2_Silent_p.C246C|C14orf49_uc001yej.1_Silent_p.C246C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	246	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	96103091	96103091	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96103091A>T								GLRX5 (92036 upstream) : TCL6 (13744 downstream)																																			---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96157234	96157234	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96157234C>T	uc001yez.2	+	2	366	c.324C>T	c.(322-324)GAC>GAT	p.D108D	TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Silent_p.D108D	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	108										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)														---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96707571	96707571	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96707571C>A	uc010avm.1	+	3	1102	c.906C>A	c.(904-906)TCC>TCA	p.S302S	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.S275S|BDKRB2_uc001yfg.2_Silent_p.S302S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	302	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96761477	96761477	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96761477G>A	uc001yfi.2	-	36	5611	c.5246C>T	c.(5245-5247)ACC>ATC	p.T1749I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1749										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96798831	96798831	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96798831A>G	uc001yfi.2	-							NM_018036	NP_060506			ATG2 autophagy related 2 homolog B											ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	96998729	96998729	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96998729T>C	uc001yfq.2	+	8	879	c.669T>C	c.(667-669)ACT>ACC	p.T223T	PAPOLA_uc001yfp.2_Silent_p.T223T|PAPOLA_uc001yfr.2_Silent_p.T223T|PAPOLA_uc010twv.1_Silent_p.T223T|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	223				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99697807	99697807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99697807C>T	uc001yga.2	-	3	782	c.515G>A	c.(514-516)CGT>CAT	p.R172H	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	172						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)				T	TLX3	T-ALL								---	---	---	---
EML1	2009	broad.mit.edu	37	14	100317246	100317246	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100317246G>T	uc001ygs.2	+	2	193	c.124G>T	c.(124-126)GAG>TAG	p.E42*	EML1_uc010avt.1_Nonsense_Mutation_p.E29*|EML1_uc010tww.1_Nonsense_Mutation_p.E11*|EML1_uc001ygq.2_Nonsense_Mutation_p.E42*|EML1_uc001ygr.2_Nonsense_Mutation_p.E42*	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	42						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100363529	100363529	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100363529C>T	uc001ygs.2	+	7	794	c.725C>T	c.(724-726)CCG>CTG	p.P242L	EML1_uc010avt.1_Missense_Mutation_p.P229L|EML1_uc010tww.1_Missense_Mutation_p.P230L|EML1_uc001ygq.2_Missense_Mutation_p.P261L|EML1_uc001ygr.2_Missense_Mutation_p.P261L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	242						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100406438	100406438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100406438C>T	uc001ygs.2	+	22	2506	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	EML1_uc010tww.1_Missense_Mutation_p.R801C|EML1_uc001ygr.2_Missense_Mutation_p.R832C	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	813	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100950346	100950346	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100950346G>T	uc010avx.2	+	4	1079	c.986G>T	c.(985-987)AGT>ATT	p.S329I	WDR25_uc001yhm.2_Missense_Mutation_p.S321I|WDR25_uc001yhn.2_Missense_Mutation_p.S329I|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.S72I	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	329	WD 2.										0		Melanoma(154;0.212)																---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101198408	101198408	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101198408G>A	uc001yhs.3	+	4	445	c.292G>A	c.(292-294)GCC>ACC	p.A98T	DLK1_uc001yhu.3_Missense_Mutation_p.A98T	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	98	Extracellular (Potential).|EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)																---	---	---	---
MIR493	574450	broad.mit.edu	37	14	101335474	101335474	+	RNA	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101335474G>C	hsa-mir-493|MI0003132	+			c.78G>C																				0																		---	---	---	---
SNORD113-2	767562	broad.mit.edu	37	14	101393741	101393741	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101393741A>T	uc001yij.2	+	1		c.63A>T				NR_003230				Homo sapiens small nucleolar RNA, C/D box 113-2 (SNORD113-2), non-coding RNA.												0																		---	---	---	---
MIR487A	619555	broad.mit.edu	37	14	101518813	101518813	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101518813T>C	hsa-mir-487a|MI0002471	+			c.31T>C			uc010awe.2_5'Flank|MIR382_hsa-mir-382|MI0000790_5'Flank|uc010txo.1_5'Flank|MIR134_hsa-mir-134|MI0000474_5'Flank|MIR668_hsa-mir-668|MI0003761_5'Flank|MIR485_hsa-mir-485|MI0002469_5'Flank																	0																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102453856	102453856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102453856T>C	uc001yks.2	+	9	2769	c.2605T>C	c.(2605-2607)TAT>CAT	p.Y869H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	869	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102461592	102461592	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102461592G>A	uc001yks.2	+	15	3683	c.3519G>A	c.(3517-3519)GTG>GTA	p.V1173V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1173	Potential.|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474611	102474611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102474611T>C	uc001yks.2	+	29	6078	c.5914T>C	c.(5914-5916)TCC>CCC	p.S1972P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102483497	102483497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102483497T>C	uc001yks.2	+	39	8085	c.7921T>C	c.(7921-7923)TAC>CAC	p.Y2641H	DYNC1H1_uc001ykt.1_Missense_Mutation_p.Y132H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2641	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102901049	102901049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102901049C>T	uc001ylw.1	+	9	2043	c.1895C>T	c.(1894-1896)CCC>CTC	p.P632L	TECPR2_uc010awl.2_Missense_Mutation_p.P632L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	632							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102918744	102918744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102918744G>A	uc001ylw.1	+	16	3568	c.3420G>A	c.(3418-3420)TGG>TGA	p.W1140*	TECPR2_uc010awl.2_Nonsense_Mutation_p.W1140*|TECPR2_uc010txx.1_Nonsense_Mutation_p.W303*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1140							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103452834	103452834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103452834T>C	uc001ymi.1	-	6	912	c.680A>G	c.(679-681)GAT>GGT	p.D227G		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	227	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104220399	104220399	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104220399G>A	uc001yof.1	-						PPP1R13B_uc001yog.1_Intron	NM_015316	NP_056131			apoptosis-stimulating protein of p53, 1						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104472992	104472992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104472992T>C	uc001yom.3	+	17	1919	c.1889T>C	c.(1888-1890)CTT>CCT	p.L630P	TDRD9_uc001yon.3_Missense_Mutation_p.L368P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	630					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104492062	104492062	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104492062A>G	uc001yom.3	+	26	2910	c.2880A>G	c.(2878-2880)AAA>AAG	p.K960K	TDRD9_uc001yon.3_Silent_p.K698K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	960	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104639002	104639002	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104639002C>A	uc001yos.3	+	7	1417	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	473	ATP (Potential).|Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)														---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105204736	105204736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105204736C>T	uc001ypd.2	+	3	393	c.319C>T	c.(319-321)CCA>TCA	p.P107S	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P150S|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	107					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.P150S(1)		ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105207003	105207003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105207003G>A	uc001ypd.2	+	6	616	c.542G>A	c.(541-543)CGC>CAC	p.R181H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.R224H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	181					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
AKT1	207	broad.mit.edu	37	14	105238712	105238712	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105238712T>C	uc001ypk.2	-	12	1804	c.1250A>G	c.(1249-1251)TAC>TGC	p.Y417C	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.Y417C|AKT1_uc010axa.2_Missense_Mutation_p.Y417C|AKT1_uc001ypm.2_Missense_Mutation_p.Y417C|AKT1_uc001ypn.2_Missense_Mutation_p.Y417C|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.Y355C	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	417	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)		1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105397263	105397263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105397263C>T	uc001ypu.1	+	7	1043	c.902C>T	c.(901-903)ACC>ATC	p.T301I	PLD4_uc010tyl.1_Missense_Mutation_p.T308I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	301					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		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)													---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405613	105405613	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405613G>T	uc010axc.1	-	7	16295	c.16175C>A	c.(16174-16176)CCA>CAA	p.P5392Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5292Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5392						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408953	105408953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408953G>A	uc010axc.1	-	7	12955	c.12835C>T	c.(12835-12837)CGG>TGG	p.R4279W	AHNAK2_uc001ypx.2_Missense_Mutation_p.R4179W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4279						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410623	105410623	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105410623G>T	uc010axc.1	-	7	11285	c.11165C>A	c.(11164-11166)CCC>CAC	p.P3722H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3622H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411049	105411049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411049C>T	uc010axc.1	-	7	10859	c.10739G>A	c.(10738-10740)GGC>GAC	p.G3580D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3480D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3580						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411899	105411899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411899C>T	uc010axc.1	-	7	10009	c.9889G>A	c.(9889-9891)GCC>ACC	p.A3297T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3197T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3297						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412394	105412394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105412394C>T	uc010axc.1	-	7	9514	c.9394G>A	c.(9394-9396)GCC>ACC	p.A3132T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3032T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3132						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413160	105413160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413160C>T	uc010axc.1	-	7	8748	c.8628G>A	c.(8626-8628)CAG>CAA	p.Q2876Q	AHNAK2_uc001ypx.2_Silent_p.Q2776Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2876						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413926	105413926	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413926G>A	uc010axc.1	-	7	7982	c.7862C>T	c.(7861-7863)CCG>CTG	p.P2621L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2521L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2621						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416427	105416427	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105416427G>A	uc010axc.1	-	7	5481	c.5361C>T	c.(5359-5361)CCC>CCT	p.P1787P	AHNAK2_uc001ypx.2_Silent_p.P1687P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1787						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419623	105419623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105419623T>C	uc010axc.1	-	7	2285	c.2165A>G	c.(2164-2166)GAC>GGC	p.D722G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D622G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105517541	105517541	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105517541G>T	uc001yqd.2	-	4	1832	c.933C>A	c.(931-933)GCC>GCA	p.A311A	GPR132_uc001yqc.2_Silent_p.A123A|GPR132_uc001yqe.2_Silent_p.A302A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	311	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)														---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716945	105716945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105716945C>T	uc010tyq.1	+	5	1502	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	465						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106109871	106109871	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106109871A>T	uc010tyt.1	-						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106208024	106208024	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106208024A>T	uc010tyt.1	-	3628		c.59093T>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.I126N|uc001ysf.2_Missense_Mutation_p.I126N					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106320494	106320494	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106320494T>A	uc010tyt.1	-	3601		c.56480A>T			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106321133	106321133	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106321133C>T	uc010tyt.1	-	3600		c.56018G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106622014	106622014	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106622014C>T	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106845488	106845488	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106845488C>A	uc010tyt.1	-	305		c.12226G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106926613	106926613	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106926613A>G	uc010tyt.1	-	234		c.10045T>C			uc010tyu.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107078393	107078393	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107078393C>T	uc010tyt.1	-	117		c.5897G>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283037	107283037	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283037A>G	uc010tyt.1	-	1		c.51T>C			uc001ytb.1_Missense_Mutation_p.S36P					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283070	107283070	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283070G>A	uc010tyt.1	-	1		c.18C>T			uc001ytb.1_Nonsense_Mutation_p.Q25*					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22861939	22861939	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22861939A>G	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron|TUBGCP5_uc010axz.1_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22956546	22956546	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22956546T>A	uc001yus.2	+	16	1887	c.1783T>A	c.(1783-1785)TTT>ATT	p.F595I	CYFIP1_uc001yut.2_Missense_Mutation_p.F595I|CYFIP1_uc010aya.1_Missense_Mutation_p.F623I|CYFIP1_uc001yuu.2_Missense_Mutation_p.F164I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	595					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	23000163	23000163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23000163C>T	uc001yus.2	+	30	3621	c.3517C>T	c.(3517-3519)CGT>TGT	p.R1173C	CYFIP1_uc001yut.2_Missense_Mutation_p.R1173C|CYFIP1_uc001yuu.2_Missense_Mutation_p.R742C|CYFIP1_uc001yuv.2_Missense_Mutation_p.R367C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1173					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.R1173H(1)		ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006481	23006481	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006481G>T	uc001yux.2	-	8	1436	c.823C>A	c.(823-825)CCT>ACT	p.P275T	NIPA2_uc001yuy.2_Missense_Mutation_p.P275T|NIPA2_uc001yuz.2_Missense_Mutation_p.P275T|NIPA2_uc001yva.2_Missense_Mutation_p.P256T|NIPA2_uc001yvb.2_Missense_Mutation_p.P275T|NIPA2_uc010ayb.2_Missense_Mutation_p.P256T	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	275	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006661	23006661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006661G>A	uc001yux.2	-	8	1256	c.643C>T	c.(643-645)CAT>TAT	p.H215Y	NIPA2_uc001yuy.2_Missense_Mutation_p.H215Y|NIPA2_uc001yuz.2_Missense_Mutation_p.H215Y|NIPA2_uc001yva.2_Missense_Mutation_p.H196Y|NIPA2_uc001yvb.2_Missense_Mutation_p.H215Y|NIPA2_uc010ayb.2_Missense_Mutation_p.H196Y	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	215	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931990	23931990	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931990C>T	uc001ywk.2	-	1	461	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	125	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223574	25223574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25223574C>T	uc001ywp.1	+	13	1596	c.706C>T	c.(706-708)CGT>TGT	p.R236C	SNRPN_uc001ywq.1_Missense_Mutation_p.R236C|SNRPN_uc001ywr.1_Missense_Mutation_p.R236C|SNRPN_uc001yws.1_Missense_Mutation_p.R236C|SNRPN_uc001ywt.1_Missense_Mutation_p.R236C|SNRPN_uc001ywv.1_Missense_Mutation_p.R239C|SNRPN_uc001yww.1_Missense_Mutation_p.R236C|SNRPN_uc001ywx.1_Missense_Mutation_p.R236C|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236	Repeat-rich region.|				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25232146	25232146	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25232146C>T	uc001ywz.1	+						PAR-SN_uc001yxa.1_Intron|PAR-SN_uc001yxc.2_Intron|PAR5_uc001yxd.2_RNA					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25327959	25327959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25327959C>T	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|SNORD116-16_uc001yya.2_RNA|IPW_uc001yyb.3_5'Flank|SNORD116-19_uc001yyc.2_5'Flank|uc001yyd.2_5'Flank|SNORD116-18_uc010ayk.2_5'Flank					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	25425726	25425726	+	5'Flank	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25425726A>G	uc001yyy.1	+						uc001yza.1_5'Flank|uc001yys.1_Intron|SNORD115-7_uc001yyw.1_Intron|SNORD115-7_uc001yyz.2_5'Flank					Homo sapiens clone Rt-7 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25490636	25490636	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25490636G>T	uc001zae.2	+						SNORD115-41_uc001zaj.1_RNA|SNORD115-10_uc001zak.1_5'Flank					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25514961	25514961	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25514961A>G	uc001zae.2	+						uc001zan.1_Intron|SNORD115-48_uc001zao.1_RNA					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616489	25616489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616489G>A	uc001zaq.2	-	4	841	c.841C>T	c.(841-843)CCT>TCT	p.P281S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P258S|UBE3A_uc001zas.2_Missense_Mutation_p.P278S|UBE3A_uc001zat.2_Missense_Mutation_p.P258S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	281					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616842	25616842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616842A>G	uc001zaq.2	-	4	488	c.488T>C	c.(487-489)TTG>TCG	p.L163S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L140S|UBE3A_uc001zas.2_Missense_Mutation_p.L160S|UBE3A_uc001zat.2_Missense_Mutation_p.L140S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	163					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25926195	25926195	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25926195A>G	uc010ayu.2	-	18	3625	c.3519T>C	c.(3517-3519)TTT>TTC	p.F1173F		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1173	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25966960	25966960	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25966960T>C	uc010ayu.2	-	7	1313	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	403	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25981215	25981215	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25981215A>C	uc010ayu.2	-	3	834	c.728T>G	c.(727-729)TTT>TGT	p.F243C		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27182338	27182338	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27182338A>G	uc001zbd.1	+	9	926	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	196	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28380769	28380769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28380769T>C	uc001zbj.2	-	79	12191	c.12085A>G	c.(12085-12087)ACA>GCA	p.T4029A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4029	RCC1 14.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28386919	28386919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28386919A>G	uc001zbj.2	-	77	11880	c.11774T>C	c.(11773-11775)TTT>TCT	p.F3925S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3925					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28422651	28422651	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28422651G>A	uc001zbj.2	-	60	9274	c.9168C>T	c.(9166-9168)GGC>GGT	p.G3056G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3056	RCC1 7.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28441714	28441714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28441714A>G	uc001zbj.2	-	51	8119	c.8013T>C	c.(8011-8013)GCT>GCC	p.A2671A	HERC2_uc001zbk.1_Silent_p.A206A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28463797	28463797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28463797T>A	uc001zbj.2	-	38	5972	c.5866A>T	c.(5866-5868)AAC>TAC	p.N1956Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1956					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28525254	28525254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28525254T>C	uc001zbj.2	-	5	608	c.502A>G	c.(502-504)AAA>GAA	p.K168E	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	168					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
NDNL2	56160	broad.mit.edu	37	15	29561679	29561679	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29561679C>A	uc001zco.2	-	1	339	c.231G>T	c.(229-231)GTG>GTT	p.V77V	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	77					regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)												OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30012231	30012231	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30012231T>C	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31234015	31234015	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31234015C>G	uc001zfh.1	-	16	2090	c.1992G>C	c.(1990-1992)TGG>TGC	p.W664C	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.W78C|MTMR10_uc001zfg.1_Missense_Mutation_p.W245C|MTMR10_uc010azx.1_Missense_Mutation_p.W416C|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	664							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31318334	31318334	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31318334A>G	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31354888	31354888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31354888A>G	uc001zfm.2	-	8	1045	c.917T>C	c.(916-918)CTC>CCC	p.L306P	TRPM1_uc010azy.2_Missense_Mutation_p.L213P|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	306	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31358307	31358307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31358307C>T	uc001zfm.2	-	6	824	c.696G>A	c.(694-696)AAG>AAA	p.K232K	TRPM1_uc010azy.2_Silent_p.K145K|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	232	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
KLF13	51621	broad.mit.edu	37	15	31664305	31664305	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31664305G>A	uc001zfo.2	+	2	1003	c.670G>A	c.(670-672)GAG>AAG	p.E224K		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	224					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)														---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32936006	32936006	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32936006C>T	uc001zha.2	+	2	330	c.213C>T	c.(211-213)CCC>CCT	p.P71P	SCG5_uc001zgz.2_Silent_p.P71P	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	71					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33192193	33192193	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33192193T>A	uc001zhf.3	-	10	2972	c.2972A>T	c.(2971-2973)GAT>GTT	p.D991V		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1214	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33357235	33357235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33357235C>A	uc001zhf.3	-	2	1415	c.1415G>T	c.(1414-1416)GGC>GTC	p.G472V	FMN1_uc001zhg.2_Missense_Mutation_p.G472V	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	695	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33358942	33358942	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33358942C>A	uc001zhf.3	-	1	1144	c.1144G>T	c.(1144-1146)GGC>TGC	p.G382C	FMN1_uc001zhg.2_Missense_Mutation_p.G382C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	479	Microtubule-binding (By similarity).|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33359555	33359555	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33359555A>C	uc001zhf.3	-	1	531	c.531T>G	c.(529-531)TCT>TCG	p.S177S	FMN1_uc001zhg.2_Silent_p.S177S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33895365	33895365	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33895365C>T	uc001zhi.2	+	18	2034	c.1964C>T	c.(1963-1965)GCC>GTC	p.A655V	RYR3_uc010bar.2_Missense_Mutation_p.A655V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	655	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34016387	34016387	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34016387A>G	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34140608	34140608	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34140608G>A	uc001zhi.2	+	94	13684	c.13614G>A	c.(13612-13614)TTG>TTA	p.L4538L	RYR3_uc010bar.2_Silent_p.L4533L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4538					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355236	34355236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34355236G>A	uc001zhk.1	+	3	988	c.318G>A	c.(316-318)TGG>TGA	p.W106*	CHRM5_uc001zhl.1_Nonsense_Mutation_p.W106*	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	106	Helical; Name=3; (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)													---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34537953	34537953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34537953T>C	uc001zhw.2	-	13	1929	c.1765A>G	c.(1765-1767)ACA>GCA	p.T589A	SLC12A6_uc001zhv.2_Missense_Mutation_p.T538A|SLC12A6_uc001zhx.2_Missense_Mutation_p.T574A|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.T530A|SLC12A6_uc001zib.2_Missense_Mutation_p.T580A|SLC12A6_uc001zic.2_Missense_Mutation_p.T589A|SLC12A6_uc010bau.2_Missense_Mutation_p.T589A|SLC12A6_uc001zid.2_Missense_Mutation_p.T530A|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.T401A	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	589					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)													---	---	---	---
C15orf55	256646	broad.mit.edu	37	15	34648162	34648162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34648162T>C	uc001zif.2	+	7	2024	c.1869T>C	c.(1867-1869)TGT>TGC	p.C623C	C15orf55_uc010ucc.1_Silent_p.C651C|C15orf55_uc010ucd.1_Silent_p.C641C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	623						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)				T	BRD3|BRD4	lethal midline carcinoma								---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35045359	35045359	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35045359A>T	uc001zis.1	-	2	286	c.286T>A	c.(286-288)TAC>AAC	p.Y96N	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	96	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)														---	---	---	---
AQR	9716	broad.mit.edu	37	15	35185907	35185907	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35185907T>C	uc001ziv.2	-	23	2709	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	843						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)														---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35273848	35273848	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35273848A>G	uc001ziw.2	-	3	2099	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)														---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38591565	38591565	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38591565C>G	uc001zka.3	+							NM_152594	NP_689807			sprouty-related protein 1 with EVH-1 domain						inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										Legius_syndrome				---	---	---	---
C15orf54	400360	broad.mit.edu	37	15	39544627	39544627	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39544627A>G	uc001zkg.2	+	2	659	c.291A>G	c.(289-291)CAA>CAG	p.Q97Q		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	97											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)														---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39885877	39885877	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39885877G>T	uc001zkh.2	+						THBS1_uc010bbi.2_Intron	NM_003246	NP_003237			thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)													---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40005645	40005645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40005645C>T	uc001zki.2	-	10	1406	c.1188G>A	c.(1186-1188)GTG>GTA	p.V396V		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	396										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40068628	40068628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40068628A>G	uc001zki.2	-	2	316	c.98T>C	c.(97-99)GTG>GCG	p.V33A		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	33										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40094113	40094113	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40094113A>G	uc001zkj.1	-	3	1634	c.768T>C	c.(766-768)TAT>TAC	p.Y256Y	GPR176_uc010uck.1_Silent_p.Y196Y	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	256	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)												OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40099369	40099369	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40099369A>C	uc001zkj.1	-	2	1129	c.263T>G	c.(262-264)ATT>AGT	p.I88S	GPR176_uc010uck.1_Missense_Mutation_p.I28S	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	88	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)														---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40558052	40558052	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40558052C>T	uc010bbl.2	+	5	654	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAK6_uc010bbm.2_Missense_Mutation_p.R72W|PAK6_uc001zky.3_Missense_Mutation_p.R72W|PAK6_uc010bbn.2_Missense_Mutation_p.R72W|PAK6_uc001zlb.2_Missense_Mutation_p.R72W	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	72	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)														---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40594733	40594733	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40594733G>A	uc001zld.2	-	4	610	c.309C>T	c.(307-309)TCC>TCT	p.S103S	PLCB2_uc010bbo.2_Silent_p.S103S|PLCB2_uc010ucm.1_Silent_p.S103S|PLCB2_uc001zle.3_Silent_p.S103S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	103					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)														---	---	---	---
RPUSD2	27079	broad.mit.edu	37	15	40862035	40862035	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40862035A>G	uc001zmd.1	+	1	499	c.499A>G	c.(499-501)AGT>GGT	p.S167G		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	167					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)														---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915370	40915370	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40915370A>T	uc010bbs.1	+	11	3147	c.2986A>T	c.(2986-2988)ACA>TCA	p.T996S	CASC5_uc010ucq.1_Missense_Mutation_p.T820S|CASC5_uc001zme.2_Missense_Mutation_p.T970S|CASC5_uc010bbt.1_Missense_Mutation_p.T970S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	996	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41191463	41191463	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41191463G>T	uc001zne.2	+	4	786	c.447G>T	c.(445-447)AAG>AAT	p.K149N		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	149					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192724	41192724	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41192724G>A	uc001zne.2	+	4	2047	c.1708G>A	c.(1708-1710)GTG>ATG	p.V570M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	570					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
INO80	54617	broad.mit.edu	37	15	41352087	41352087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41352087A>C	uc001zni.2	-	15	2033	c.1820T>G	c.(1819-1821)GTC>GGC	p.V607G	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	607	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41482161	41482161	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41482161A>T	uc001znk.2	-	9	1047	c.856T>A	c.(856-858)TCT>ACT	p.S286T	EXD1_uc001znj.2_Missense_Mutation_p.S84T|EXD1_uc010ucv.1_Missense_Mutation_p.S344T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	286					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41509324	41509324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41509324G>A	uc001znk.2	-	2	248	c.57C>T	c.(55-57)GGC>GGT	p.G19G	EXD1_uc010ucv.1_Silent_p.G77G	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	19					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41663789	41663789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41663789T>A	uc001zns.3	+	8	1143	c.913T>A	c.(913-915)TCT>ACT	p.S305T	NUSAP1_uc001znq.3_Missense_Mutation_p.S110T|NUSAP1_uc001znr.3_Missense_Mutation_p.S304T|NUSAP1_uc010bce.2_Missense_Mutation_p.S305T|NUSAP1_uc001znt.3_Missense_Mutation_p.S290T|NUSAP1_uc001znv.3_Missense_Mutation_p.S303T|NUSAP1_uc001znu.3_Missense_Mutation_p.S304T|NUSAP1_uc010ucw.1_Missense_Mutation_p.S281T|NUSAP1_uc001znw.3_Missense_Mutation_p.S109T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	305	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)														---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41815492	41815492	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41815492G>A	uc001zod.2	-	18	2621	c.2497C>T	c.(2497-2499)CTG>TTG	p.L833L	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	833	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42028759	42028759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42028759C>T	uc010ucy.1	+	13	4478	c.4297C>T	c.(4297-4299)CAG>TAG	p.Q1433*	MGA_uc010ucz.1_Nonsense_Mutation_p.Q1433*|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1433						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42041713	42041713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42041713A>G	uc010ucy.1	+	17	6089	c.5908A>G	c.(5908-5910)AGA>GGA	p.R1970G	MGA_uc010ucz.1_Missense_Mutation_p.R1761G|MGA_uc010uda.1_Missense_Mutation_p.R586G|MGA_uc001zoi.2_Missense_Mutation_p.R184G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1931	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42147511	42147511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42147511G>A	uc001zos.2	-	55	9562	c.9229C>T	c.(9229-9231)CGA>TGA	p.R3077*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3112	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42156099	42156099	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42156099G>T	uc001zos.2	-							NM_016642	NP_057726			spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42298290	42298290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42298290T>C	uc001zow.1	-	3	336	c.336A>G	c.(334-336)GAA>GAG	p.E112E		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	123	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)														---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42437796	42437796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42437796T>C	uc001zoz.2	-	16	1820	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Missense_Mutation_p.Y218C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.Y337C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.Y337C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.Y373C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	586	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731697	42731697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731697C>T	uc001zpw.2	-	8	4344	c.4009G>A	c.(4009-4011)GCA>ACA	p.A1337T	ZFP106_uc001zpu.2_Missense_Mutation_p.A435T|ZFP106_uc001zpv.2_Missense_Mutation_p.A522T|ZFP106_uc001zpx.2_Missense_Mutation_p.A565T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1337						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731731	42731731	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731731T>C	uc001zpw.2	-	8	4310	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	ZFP106_uc001zpu.2_Silent_p.E423E|ZFP106_uc001zpv.2_Silent_p.E510E|ZFP106_uc001zpx.2_Silent_p.E553E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1325						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43021290	43021290	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43021290G>A	uc001zql.2	-	19	2693	c.2576C>T	c.(2575-2577)CCG>CTG	p.P859L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.P185L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	859						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43026186	43026186	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43026186A>T	uc001zql.2	-	8	1434	c.1317T>A	c.(1315-1317)AAT>AAA	p.N439K	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	439						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43367236	43367236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43367236A>G	uc001zqq.2	-	4	535	c.469T>C	c.(469-471)TGG>CGG	p.W157R	UBR1_uc010udk.1_Missense_Mutation_p.W157R	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	157	UBR-type.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43500968	43500968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43500968G>A	uc001zra.3	-	7	1138	c.838C>T	c.(838-840)CGA>TGA	p.R280*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.R125*|EPB42_uc001zrb.3_Nonsense_Mutation_p.R310*|EPB42_uc010udm.1_Nonsense_Mutation_p.R202*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43622496	43622496	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43622496C>T	uc001zrg.2	-	1	396	c.192G>A	c.(190-192)AGG>AGA	p.R64R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	64					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)													---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43701152	43701152	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43701152T>C	uc001zrs.2	-	26	5676	c.5528A>G	c.(5527-5529)TAC>TGC	p.Y1843C	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1841C|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1846C|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1848C|TP53BP1_uc001zrp.2_Missense_Mutation_p.Y260C	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1843	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714210	43714210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43714210A>G	uc001zrs.2	-	19	4076	c.3928T>C	c.(3928-3930)TCC>CCC	p.S1310P	TP53BP1_uc010udp.1_Missense_Mutation_p.S1310P|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1315P|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1315P|TP53BP1_uc010udq.1_Missense_Mutation_p.S1315P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1310					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43733752	43733752	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43733752A>T	uc001zrs.2	-	15	3203	c.3055T>A	c.(3055-3057)TCT>ACT	p.S1019T	TP53BP1_uc010udp.1_Missense_Mutation_p.S1019T|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1024T|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1024T|TP53BP1_uc010udq.1_Missense_Mutation_p.S1024T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1019					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817621	43817621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43817621T>C	uc001zrt.2	+	4	4417	c.3950T>C	c.(3949-3951)CTG>CCG	p.L1317P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1317						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)													---	---	---	---
STRC	161497	broad.mit.edu	37	15	43892737	43892737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43892737A>G	uc001zsf.2	-	26	5066	c.4988T>C	c.(4987-4989)ATA>ACA	p.I1663T	STRC_uc010bdl.2_Missense_Mutation_p.I890T|STRC_uc001zse.2_Missense_Mutation_p.I181T	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1663					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	T	T	rs140242525		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CKMT1A	548596	broad.mit.edu	37	15	43991208	43991208	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43991208A>G	uc001zsn.2	+	10	1567	c.1175A>G	c.(1174-1176)TAT>TGT	p.Y392C	CKMT1A_uc010uea.1_Missense_Mutation_p.Y423C|CKMT1A_uc001zso.3_Missense_Mutation_p.Y392C	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	392	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)													---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44877948	44877948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44877948A>G	uc001ztx.2	-	29	5038	c.5007T>C	c.(5005-5007)CTT>CTC	p.L1669L	SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Silent_p.L1669L|SPG11_uc010uei.1_Silent_p.L1669L|SPG11_uc001zty.1_Silent_p.L398L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1669	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45398417	45398417	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45398417A>G	uc010bea.2	-	17	2257	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	DUOX2_uc001zun.2_Missense_Mutation_p.V685A	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	685	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)														---	---	---	---
DUOXA1	90527	broad.mit.edu	37	15	45415136	45415136	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45415136C>A	uc001zuq.1	-	1	106	c.77G>T	c.(76-78)AGC>ATC	p.S26I	DUOXA1_uc010uem.1_Missense_Mutation_p.S26I|DUOXA1_uc001zup.2_Missense_Mutation_p.S26I|DUOXA1_uc010bec.2_Missense_Mutation_p.S26I|DUOXA1_uc001zur.1_Missense_Mutation_p.S26I|DUOXA1_uc010bed.1_Missense_Mutation_p.S26I	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	26	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)														---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45445594	45445594	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45445594C>T	uc001zus.1	+	27	3787	c.3441C>T	c.(3439-3441)GGC>GGT	p.G1147G	DUOX1_uc001zut.1_Silent_p.G1147G|DUOX1_uc010bee.1_Silent_p.G527G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1147	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---
SQRDL	58472	broad.mit.edu	37	15	45974673	45974673	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45974673T>C	uc001zvt.2	+						SQRDL_uc001zvu.2_Intron|SQRDL_uc001zvv.2_Intron	NM_021199	NP_067022			sulfide dehydrogenase like precursor								oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48060784	48060784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48060784A>G	uc010bek.2	+	18	2132	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.E591G|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Missense_Mutation_p.E572G|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	591	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063628	48063628	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063628T>G	uc010bek.2	+	19	3228	c.2868T>G	c.(2866-2868)ACT>ACG	p.T956T	SEMA6D_uc001zvw.2_Silent_p.T894T|SEMA6D_uc001zvy.2_Silent_p.T956T|SEMA6D_uc001zvz.2_Silent_p.T900T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.T894T|SEMA6D_uc001zwc.2_Silent_p.T881T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	956	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063661	48063661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063661T>A	uc010bek.2	+	19	3261	c.2901T>A	c.(2899-2901)AAT>AAA	p.N967K	SEMA6D_uc001zvw.2_Missense_Mutation_p.N905K|SEMA6D_uc001zvy.2_Missense_Mutation_p.N967K|SEMA6D_uc001zvz.2_Missense_Mutation_p.N911K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N905K|SEMA6D_uc001zwc.2_Missense_Mutation_p.N892K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	967	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063820	48063820	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063820T>C	uc010bek.2	+	19	3420	c.3060T>C	c.(3058-3060)CAT>CAC	p.H1020H	SEMA6D_uc001zvw.2_Silent_p.H958H|SEMA6D_uc001zvy.2_Silent_p.H1020H|SEMA6D_uc001zvz.2_Silent_p.H964H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.H958H|SEMA6D_uc001zwc.2_Silent_p.H945H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1020	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48435261	48435261	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48435261T>G	uc001zwi.3	-	17	1771	c.1647A>C	c.(1645-1647)GTA>GTC	p.V549V	MYEF2_uc001zwg.3_Silent_p.V87V|MYEF2_uc001zwh.3_Silent_p.V137V|MYEF2_uc001zwj.3_Silent_p.V525V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	549	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48451831	48451831	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48451831A>G	uc001zwi.3	-	6	820	c.696T>C	c.(694-696)GGT>GGC	p.G232G	MYEF2_uc001zwj.3_Silent_p.G232G|MYEF2_uc001zwl.2_Silent_p.G72G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	232					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
DUT	1854	broad.mit.edu	37	15	48626625	48626625	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48626625A>G	uc001zws.2	+	3	523	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	DUT_uc001zwt.2_Missense_Mutation_p.Y33C|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Missense_Mutation_p.Y56C|DUT_uc001zww.2_Missense_Mutation_p.Y56C|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	144					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)									Modulation_of_nucleotide_pools					---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717623	48717623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48717623A>G	uc001zwx.1	-	60	7724	c.7396T>C	c.(7396-7398)TAC>CAC	p.Y2466H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2466	EGF-like 42; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48796050	48796050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48796050A>G	uc001zwx.1	-	17	2375	c.2047T>C	c.(2047-2049)TGC>CGC	p.C683R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	683	TB 3.		C -> R (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48829959	48829959	+	Silent	SNP	G	A	A	rs1803584		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48829959G>A	uc001zwx.1	-	7	913	c.585C>T	c.(583-585)TGC>TGT	p.C195C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	195	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936859	48936859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936859T>C	uc001zwx.1	-	2	436	c.108A>G	c.(106-108)GAA>GAG	p.E36E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	36					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936889	48936889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936889G>A	uc001zwx.1	-	2	406	c.78C>T	c.(76-78)GAC>GAT	p.D26D		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	26					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49081124	49081124	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49081124A>G	uc001zwy.2	-	9	1081	c.1047T>C	c.(1045-1047)TCT>TCC	p.S349S	CEP152_uc001zwz.2_Silent_p.S349S|CEP152_uc001zxa.1_Silent_p.S256S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	349	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49089787	49089787	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49089787A>G	uc001zwy.2	-						CEP152_uc001zwz.2_Intron|CEP152_uc001zxa.1_Intron	NM_014985	NP_055800			centrosomal protein 152kDa						centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49135610	49135610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49135610G>A	uc001zxb.1	-	10	1908	c.1479C>T	c.(1477-1479)TGC>TGT	p.C493C	SHC4_uc010uey.1_Silent_p.C250C|SHC4_uc010uez.1_Silent_p.C207C	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	493	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49176493	49176493	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49176493C>T	uc001zxb.1	-	4	1221	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	264	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49292172	49292172	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49292172T>G	uc001zxe.1	-	16	2395	c.2261A>C	c.(2260-2262)GAG>GCG	p.E754A	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E709A|SECISBP2L_uc010bep.1_Missense_Mutation_p.E516A	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	754										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49325281	49325281	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49325281T>C	uc001zxe.1	-	4	679	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q182R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.Q182R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	182										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49327526	49327526	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49327526C>T	uc001zxe.1	-						SECISBP2L_uc001zxd.1_Intron|SECISBP2L_uc010bep.1_Intron|SECISBP2L_uc010beq.1_Intron	NM_014701	NP_055516			SECIS binding protein 2-like											breast(1)|skin(1)	2																		---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49509474	49509474	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49509474A>T	uc001zxj.1	+	3	328	c.230A>T	c.(229-231)TAC>TTC	p.Y77F	GALK2_uc001zxi.1_Missense_Mutation_p.Y66F|GALK2_uc010ufb.1_Missense_Mutation_p.Y53F|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.Y53F	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	77					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---
DTWD1	56986	broad.mit.edu	37	15	49926794	49926794	+	Missense_Mutation	SNP	A	G	G	rs35574741		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49926794A>G	uc001zxq.2	+	5	747	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	DTWD1_uc001zxs.2_Missense_Mutation_p.Q157R|DTWD1_uc001zxr.2_Missense_Mutation_p.Q70R|DTWD1_uc001zxo.2_Missense_Mutation_p.Q157R	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	157											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)														---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50264895	50264895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50264895G>A	uc001zxu.2	-	13	1269	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	ATP8B4_uc010ber.2_Missense_Mutation_p.T249M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T249M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	376	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---
HDC	3067	broad.mit.edu	37	15	50535355	50535355	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50535355C>T	uc001zxz.2	-	11	1333	c.1227G>A	c.(1225-1227)GTG>GTA	p.V409V	HDC_uc001zxy.2_Silent_p.V152V|HDC_uc010uff.1_Silent_p.V376V	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	409					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)													---	---	---	---
USP8	9101	broad.mit.edu	37	15	50769071	50769071	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50769071A>G	uc001zym.3	+	10	1375	c.875A>G	c.(874-876)AAT>AGT	p.N292S	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.N292S|USP8_uc001zyn.3_Missense_Mutation_p.N292S|USP8_uc010ufh.1_Missense_Mutation_p.N215S|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	292	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50886647	50886647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50886647C>T	uc001zyt.3	-	24	3718	c.3454G>A	c.(3454-3456)GAT>AAT	p.D1152N	TRPM7_uc010bew.1_Missense_Mutation_p.D1152N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1152	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)														---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51285692	51285692	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51285692A>T	uc001zyx.1	+	17	2246	c.2216A>T	c.(2215-2217)GAG>GTG	p.E739V		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	739					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)														---	---	---	---
TNFAIP8L3	388121	broad.mit.edu	37	15	51350349	51350349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51350349G>A	uc001zyy.2	-	3	708	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	203											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51634204	51634204	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51634204G>A	uc002aba.2	+	1	492	c.323G>A	c.(322-324)AGC>AAC	p.S108N	GLDN_uc010bez.1_Missense_Mutation_p.S108N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	108	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51689758	51689758	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51689758C>T	uc002aba.2	+	6	949	c.780C>T	c.(778-780)GGC>GGT	p.G260G	GLDN_uc002abb.2_Silent_p.G136G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	260	Extracellular (Potential).|Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51748351	51748351	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51748351T>A	uc002abf.2	-	38	8597	c.8372A>T	c.(8371-8373)GAA>GTA	p.E2791V	DMXL2_uc002abd.2_Missense_Mutation_p.E883V|DMXL2_uc010ufy.1_Missense_Mutation_p.E2792V|DMXL2_uc010bfa.2_Missense_Mutation_p.E2155V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2791	WD 11.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828742	51828742	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51828742T>A	uc002abf.2	-	12	2160	c.1935A>T	c.(1933-1935)AGA>AGT	p.R645S	DMXL2_uc010ufy.1_Missense_Mutation_p.R645S|DMXL2_uc010bfa.2_Missense_Mutation_p.R645S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	645						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51980445	51980445	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51980445C>T	uc002abh.2	+						SCG3_uc010ufz.1_Intron	NM_013243	NP_037375			secretogranin III isoform 1 precursor						platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)														---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52263944	52263944	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52263944A>G	uc002abo.2	-	1					LEO1_uc010bfd.2_5'UTR	NM_138792	NP_620147			Leo1, Paf1/RNA polymerase II complex component,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)														---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52339143	52339143	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52339143G>A	uc002abp.2	+	2	1280	c.486G>A	c.(484-486)ACG>ACA	p.T162T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	162	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52503982	52503982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52503982T>C	uc010bff.2	-	35	4378	c.4241A>G	c.(4240-4242)AAC>AGC	p.N1414S	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1414						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564895	52564895	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564895C>T	uc010bff.2	-	6	769	c.632G>A	c.(631-633)CGC>CAC	p.R211H	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Missense_Mutation_p.R174H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	211	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52680091	52680091	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52680091C>A	uc002aby.2	-	14	1931	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*	MYO5A_uc002abx.3_Nonsense_Mutation_p.G563*|MYO5A_uc010uge.1_Nonsense_Mutation_p.G432*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	563	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52689518	52689518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52689518C>T	uc002aby.2	-	10	1443	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	MYO5A_uc002abx.3_Missense_Mutation_p.R400H|MYO5A_uc010uge.1_Missense_Mutation_p.R269H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	400	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
ARPP19	10776	broad.mit.edu	37	15	52849361	52849361	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52849361C>T	uc002acd.1	-	2	228	c.104G>A	c.(103-105)AGA>AAA	p.R35K	ARPP19_uc002ace.1_Missense_Mutation_p.R35K	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	35					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0																		---	---	---	---
KIAA1370	56204	broad.mit.edu	37	15	52902186	52902186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52902186C>T	uc002acg.3	-	6	1078	c.925G>A	c.(925-927)GAC>AAC	p.D309N	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D221N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D316N	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	309											0				all cancers(107;0.0803)														---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081207	53081207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53081207A>G	uc002aci.1	-	1	1003	c.875T>C	c.(874-876)ATC>ACC	p.I292T		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307698	54307698	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307698T>C	uc002ack.2	+	1	2598	c.2598T>C	c.(2596-2598)GAT>GAC	p.D866D		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	866					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307737	54307737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307737T>C	uc002ack.2	+	1	2637	c.2637T>C	c.(2635-2637)GTT>GTC	p.V879V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	879					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55516108	55516108	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55516108A>G	uc002aco.2	-	6	679	c.446T>C	c.(445-447)ATA>ACA	p.I149T	RAB27A_uc002acr.2_Missense_Mutation_p.I149T|RAB27A_uc002acp.2_Missense_Mutation_p.I149T|RAB27A_uc002acq.2_Missense_Mutation_p.I149T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	149					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55522617	55522617	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55522617T>A	uc002aco.2	-	4	454	c.221A>T	c.(220-222)GAC>GTC	p.D74V	RAB27A_uc002acr.2_Missense_Mutation_p.D74V|RAB27A_uc002acp.2_Missense_Mutation_p.D74V|RAB27A_uc002acq.2_Missense_Mutation_p.D74V	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	74	GTP (By similarity).				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55652398	55652398	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55652398A>T	uc002acv.1	-	8	1738	c.1573T>A	c.(1573-1575)TTC>ATC	p.F525I	CCPG1_uc002acy.2_Missense_Mutation_p.F525I|CCPG1_uc002acu.1_Missense_Mutation_p.F381I|CCPG1_uc002acw.1_Missense_Mutation_p.F250I|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.F525I|CCPG1_uc002acz.1_Missense_Mutation_p.F525I	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	525	Lumenal (Potential).|Potential.				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)														---	---	---	---
MIR628	693213	broad.mit.edu	37	15	55665215	55665215	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55665215A>G	hsa-mir-628|MI0003642	-			c.18A>G			CCPG1_uc002acy.2_Intron|CCPG1_uc002acu.1_5'Flank|CCPG1_uc002acw.1_Intron|CCPG1_uc002acv.1_Intron|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Intron|CCPG1_uc002acz.1_Intron																	0																		---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838265	55838265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55838265T>C	uc010bfl.1	-	3	1272	c.1216A>G	c.(1216-1218)ACT>GCT	p.T406A	PYGO1_uc002adf.1_Missense_Mutation_p.T406A	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	406					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55971497	55971497	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55971497T>G	uc002adg.2	-	7	1168	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	374	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56140591	56140591	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56140591C>T	uc002adj.2	-	13	3078	c.2778G>A	c.(2776-2778)GAG>GAA	p.E926E	NEDD4_uc002adl.2_Silent_p.E507E|NEDD4_uc002adi.2_Silent_p.E854E|NEDD4_uc010ugj.1_Silent_p.E910E|NEDD4_uc010bfm.2_Silent_p.E909E|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	926	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)														---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56388470	56388470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56388470T>C	uc010bfn.2	-	9	1456	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.N300D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	389					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
TEX9	374618	broad.mit.edu	37	15	56719831	56719831	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56719831T>A	uc002adp.2	+	11	997	c.992T>A	c.(991-993)ATT>AAT	p.I331N	TEX9_uc010ugl.1_Missense_Mutation_p.I256N	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	331	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)														---	---	---	---
GCOM1	145781	broad.mit.edu	37	15	57925827	57925827	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57925827T>A	uc002aei.2	+	8	940	c.821T>A	c.(820-822)TTT>TAT	p.F274Y	GCOM1_uc002aej.2_Missense_Mutation_p.F274Y|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.F274Y|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.F274Y|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	274	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59139679	59139679	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59139679T>C	uc002afj.2	+						FAM63B_uc002afi.2_Intron|FAM63B_uc002afk.2_Intron|FAM63B_uc002afl.2_Intron	NM_001040450	NP_001035540			hypothetical protein LOC54629 isoform a											central_nervous_system(1)	1																		---	---	---	---
LDHAL6B	92483	broad.mit.edu	37	15	59499212	59499212	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59499212G>T	uc002agb.2	+	1	171	c.73G>T	c.(73-75)GGG>TGG	p.G25W	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	25					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)													---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59500995	59500995	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59500995G>A	uc002aga.2	-	14	1787	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	472	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)														---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59752285	59752285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59752285T>C	uc002agc.2	+	3	361	c.174T>C	c.(172-174)ATT>ATC	p.I58I	FAM81A_uc010uha.1_Silent_p.I58I	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	58										ovary(1)	1																		---	---	---	---
NARG2	79664	broad.mit.edu	37	15	60741267	60741267	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60741267T>G	uc002agp.2	-	10	2134	c.1899A>C	c.(1897-1899)AAA>AAC	p.K633N	NARG2_uc002ago.2_Missense_Mutation_p.K496N|NARG2_uc002agq.3_Missense_Mutation_p.K301N	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	633						nucleus				ovary(1)|lung(1)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62155653	62155653	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62155653A>G	uc002agz.2	-	82	11012	c.10938T>C	c.(10936-10938)CTT>CTC	p.L3646L	VPS13C_uc002aha.2_Silent_p.L3603L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3646					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62208153	62208153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62208153A>G	uc002agz.2	-	61	8198	c.8124T>C	c.(8122-8124)GGT>GGC	p.G2708G	VPS13C_uc002aha.2_Silent_p.G2665G|VPS13C_uc002ahb.1_Silent_p.G2708G|VPS13C_uc002ahc.1_Silent_p.G2665G|VPS13C_uc002ahd.1_Silent_p.G85G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2708					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62210431	62210431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62210431A>G	uc002agz.2	-	59	7738	c.7664T>C	c.(7663-7665)TTT>TCT	p.F2555S	VPS13C_uc002aha.2_Missense_Mutation_p.F2512S|VPS13C_uc002ahb.1_Missense_Mutation_p.F2555S|VPS13C_uc002ahc.1_Missense_Mutation_p.F2512S|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2555					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62251774	62251774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62251774A>G	uc002agz.2	-	36	4003	c.3929T>C	c.(3928-3930)ATC>ACC	p.I1310T	VPS13C_uc002aha.2_Missense_Mutation_p.I1267T|VPS13C_uc002ahb.1_Missense_Mutation_p.I1310T|VPS13C_uc002ahc.1_Missense_Mutation_p.I1267T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1310					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62253854	62253854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62253854T>C	uc002agz.2	-	35	3916	c.3842A>G	c.(3841-3843)GAA>GGA	p.E1281G	VPS13C_uc002aha.2_Missense_Mutation_p.E1238G|VPS13C_uc002ahb.1_Missense_Mutation_p.E1281G|VPS13C_uc002ahc.1_Missense_Mutation_p.E1238G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1281					protein localization					ovary(2)	2																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945511	62945511	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945511A>T	uc002alb.3	+	4	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	172	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63031735	63031735	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63031735C>T	uc002alb.3	+	28	3876	c.3876C>T	c.(3874-3876)GGC>GGT	p.G1292G	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1292					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
USP3	9960	broad.mit.edu	37	15	63862713	63862713	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63862713C>T	uc002amf.2	+	9	972	c.843C>T	c.(841-843)AAC>AAT	p.N281N	USP3_uc010uii.1_RNA|USP3_uc002amg.2_Silent_p.N196N|USP3_uc002amh.2_Silent_p.N259N|USP3_uc010uij.1_Silent_p.N237N|USP3_uc010uik.1_Silent_p.N32N|USP3_uc010bgs.2_Silent_p.N264N|USP3_uc002ami.2_Silent_p.N112N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	281					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63904619	63904619	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63904619T>C	uc002amp.2	-	77	14379	c.14231A>G	c.(14230-14232)TAC>TGC	p.Y4744C	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4744	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63937702	63937702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63937702C>T	uc002amp.2	-	56	11206	c.11058G>A	c.(11056-11058)AAG>AAA	p.K3686K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3686	WD 9.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63950833	63950833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63950833C>T	uc002amp.2	-	48	9657	c.9509G>A	c.(9508-9510)CGT>CAT	p.R3170H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3170					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64011049	64011049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64011049A>G	uc002amp.2	-	20	3938	c.3790T>C	c.(3790-3792)TCT>CCT	p.S1264P	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1264					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64915123	64915123	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64915123T>C	uc002ann.2	+	2	845	c.845T>C	c.(844-846)GTT>GCT	p.V282A		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	282						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973005	64973005	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64973005A>G	uc002ann.2	+	7	4106	c.4106A>G	c.(4105-4107)CAC>CGC	p.H1369R		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1369	Poly-His.					nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65041207	65041207	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65041207C>T	uc002anq.2	-	5	662	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	137							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65111388	65111388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65111388G>A	uc002ant.2	-	9	1434	c.1368C>T	c.(1366-1368)AAC>AAT	p.N456N	PIF1_uc002anr.2_Silent_p.N4N|PIF1_uc002ans.2_Silent_p.N147N|PIF1_uc010uiq.1_Silent_p.N456N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	456	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65112130	65112130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65112130G>A	uc002ant.2	-	8	1315	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Nonsense_Mutation_p.R108*|PIF1_uc010uiq.1_Nonsense_Mutation_p.R417*	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	417	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
MTFMT	123263	broad.mit.edu	37	15	65308852	65308852	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65308852A>G	uc002aof.3	-	6	761	c.735T>C	c.(733-735)TCT>TCC	p.S245S		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	245						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)													---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65746615	65746615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65746615A>G	uc002aov.2	-	17	3883	c.2305T>C	c.(2305-2307)TCA>CCA	p.S769P	DPP8_uc002aow.2_Missense_Mutation_p.S769P|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.S753P|DPP8_uc002aoy.2_Intron|DPP8_uc002aoz.2_Intron|DPP8_uc010bhj.2_Missense_Mutation_p.S769P|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.S72P|DPP8_uc010bhk.1_Missense_Mutation_p.S338P	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	769					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65956734	65956734	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65956734T>C	uc002aph.2	-	31	5769	c.5391_splice	c.e31-1	p.R1797_splice	DENND4A_uc002api.2_Splice_Site_p.R1840_splice	NM_005848	NP_005839			DENN/MADD domain containing 4A isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65983416	65983416	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65983416A>G	uc002aph.2	-	22	3762	c.3384T>C	c.(3382-3384)AGT>AGC	p.S1128S	DENND4A_uc002api.2_Silent_p.S1171S|DENND4A_uc002apj.3_Silent_p.S1128S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
RAB11A	8766	broad.mit.edu	37	15	66170134	66170134	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66170134T>C	uc002apk.2	+	3	399	c.271T>C	c.(271-273)TAT>CAT	p.Y91H	RAB11A_uc010ujk.1_Missense_Mutation_p.Y91H	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	91					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67004051	67004051	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67004051A>G	uc002aqf.2	+	2	1786	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.Y27C	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	288					BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67008838	67008838	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67008838T>C	uc002aqf.2	+	3	1875	c.952_splice	c.e3+2	p.D318_splice	SMAD6_uc010bhx.2_Splice_Site|SMAD6_uc002aqg.2_Splice_Site_p.D57_splice	NM_005585	NP_005576			SMAD family member 6 isoform 1						BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67482849	67482849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67482849G>A	uc002aqj.2	+	9	1551	c.1253G>A	c.(1252-1254)AGC>AAC	p.S418N	SMAD3_uc010ujr.1_Missense_Mutation_p.S313N|SMAD3_uc010ujs.1_Missense_Mutation_p.S374N|SMAD3_uc010ujt.1_Missense_Mutation_p.S223N	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	418	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)														---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67692609	67692609	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67692609A>G	uc002aqo.1	+	14	2110	c.2063A>G	c.(2062-2064)TAT>TGT	p.Y688C	IQCH_uc002aqq.1_Missense_Mutation_p.Y345C|IQCH_uc002aqp.1_Missense_Mutation_p.Y349C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	688										skin(3)|ovary(1)	4				Colorectal(3;0.0856)														---	---	---	---
MAP2K5	5607	broad.mit.edu	37	15	67995750	67995750	+	Intron	SNP	C	T	T	rs55855141	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67995750C>T	uc002aqu.2	+						MAP2K5_uc002aqv.2_Intron|MAP2K5_uc002aqw.2_Intron|MAP2K5_uc002aqx.2_Intron	NM_145160	NP_660143			mitogen-activated protein kinase kinase 5						nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2																		---	---	---	---
LBXCOR1	390598	broad.mit.edu	37	15	68118726	68118726	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68118726G>T	uc002aqy.1	+	2	533	c.533G>T	c.(532-534)TGC>TTC	p.C178F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	187					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0																		---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68438930	68438930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68438930C>T	uc002aqz.2	+	6	816	c.720C>T	c.(718-720)GGC>GGT	p.G240G	PIAS1_uc010ujx.1_Silent_p.G240G	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	240	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68608055	68608055	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68608055C>T	uc002ari.2	-	22	2813	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	ITGA11_uc010bib.2_Missense_Mutation_p.R909H	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	909	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)													---	---	---	---
GLCE	26035	broad.mit.edu	37	15	69548299	69548299	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69548299T>C	uc002ary.1	+	3	382	c.154T>C	c.(154-156)TTT>CTT	p.F52L		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	52	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2																		---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69737152	69737152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69737152C>T	uc002asb.2	+	19	2520	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	KIF23_uc002asc.2_Silent_p.N697N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Silent_p.N514N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	801					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---
RPLP1	6176	broad.mit.edu	37	15	69747800	69747800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69747800A>G	uc002asd.1	+	4	428	c.299A>G	c.(298-300)GAA>GGA	p.E100G	RPLP1_uc002ase.1_Missense_Mutation_p.E75G	NM_001003	NP_000994	P05386	RLA1_HUMAN	ribosomal protein P1 isoform 1	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71196973	71196973	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71196973A>T	uc002asw.2	+	5	626	c.379A>T	c.(379-381)ATA>TTA	p.I127L	LRRC49_uc002asu.2_Missense_Mutation_p.I117L|LRRC49_uc002asx.2_Missense_Mutation_p.I83L|LRRC49_uc010ukf.1_Missense_Mutation_p.I132L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.I99L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	127	LRR 1.					cytoplasm|microtubule				ovary(1)	1																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72050275	72050275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72050275G>A	uc002atb.1	+	14	2529	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	THSD4_uc002ate.2_Missense_Mutation_p.R457H|THSD4_uc002atg.1_Missense_Mutation_p.R20H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	817	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72286859C>T	uc002atl.3	-	10	2011	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	MYO9A_uc010biq.2_Missense_Mutation_p.R108Q|MYO9A_uc002ato.2_Missense_Mutation_p.R513Q|MYO9A_uc002atn.1_Missense_Mutation_p.R494Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GRAMD2	196996	broad.mit.edu	37	15	72455965	72455965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72455965G>A	uc002atq.2	-	9	758	c.734C>T	c.(733-735)CCT>CTT	p.P245L	GRAMD2_uc010bis.2_Missense_Mutation_p.P245L|GRAMD2_uc010ukh.1_Missense_Mutation_p.P39L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	245						integral to membrane					0																		---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72552962	72552962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72552962C>T	uc002auc.2	-	9	1072	c.613G>A	c.(613-615)GTT>ATT	p.V205I	PARP6_uc002aua.2_Missense_Mutation_p.V70I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V205I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	205							NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72579601	72579601	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72579601G>T	uc002auh.2	-	12					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_3'UTR|CELF6_uc010ukl.1_3'UTR|CELF6_uc010ukm.1_3'UTR|CELF6_uc002aui.2_3'UTR|CELF6_uc002auj.2_3'UTR	NM_052840	NP_443072			bruno-like 6, RNA binding protein						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72580706	72580706	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72580706C>A	uc002auh.2	-	11	1571	c.1261G>T	c.(1261-1263)GCC>TCC	p.A421S	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.A308S|CELF6_uc010ukl.1_Missense_Mutation_p.A284S|CELF6_uc010ukm.1_Missense_Mutation_p.A394S|CELF6_uc002aui.2_Missense_Mutation_p.A527S|CELF6_uc002auj.2_Missense_Mutation_p.A308S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	421	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73542047	73542047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73542047C>T	uc002avm.3	+	11	2021	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NEO1_uc010ukx.1_Nonsense_Mutation_p.R627*|NEO1_uc010uky.1_Nonsense_Mutation_p.R627*|NEO1_uc010ukz.1_Nonsense_Mutation_p.R51*|NEO1_uc002avn.3_Nonsense_Mutation_p.R292*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	627	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73547093	73547093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73547093G>A	uc002avm.3	+	13	2157	c.2015G>A	c.(2014-2016)CGC>CAC	p.R672H	NEO1_uc010ukx.1_Missense_Mutation_p.R672H|NEO1_uc010uky.1_Missense_Mutation_p.R672H|NEO1_uc010ukz.1_Missense_Mutation_p.R96H|NEO1_uc002avn.3_Missense_Mutation_p.R337H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	672	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73575319	73575319	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73575319C>T	uc002avm.3	+	23	3419	c.3277C>T	c.(3277-3279)CAT>TAT	p.H1093Y	NEO1_uc010ukx.1_Missense_Mutation_p.H1082Y|NEO1_uc010uky.1_Missense_Mutation_p.H1093Y|NEO1_uc010ukz.1_Missense_Mutation_p.H506Y|NEO1_uc002avn.3_Missense_Mutation_p.H731Y	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1093	Extracellular (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73635998	73635998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73635998T>C	uc002avp.2	-	2	1931	c.937A>G	c.(937-939)AAC>GAC	p.N313D		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	313	Helical; Name=Segment S2; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
CD276	80381	broad.mit.edu	37	15	73994658	73994658	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73994658C>A	uc002avv.1	+	3	376	c.142C>A	c.(142-144)CTG>ATG	p.L48M	CD276_uc010bjd.1_Translation_Start_Site|CD276_uc002avu.1_Missense_Mutation_p.L48M|CD276_uc002avw.1_Missense_Mutation_p.L48M|CD276_uc010ulb.1_Intron|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	48	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1																		---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74427037	74427037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74427037C>T	uc002axd.2	+	4	2711	c.1942C>T	c.(1942-1944)CGT>TGT	p.R648C	ISLR2_uc002axe.2_Missense_Mutation_p.R648C|ISLR2_uc010bjg.2_Missense_Mutation_p.R648C|ISLR2_uc010bjf.2_Missense_Mutation_p.R648C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	648	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0																OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74565210	74565210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74565210T>C	uc002axo.2	+	7	1131	c.737T>C	c.(736-738)GTC>GCC	p.V246A	CCDC33_uc002axp.2_Missense_Mutation_p.V68A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	449							protein binding			ovary(3)|skin(2)	5																		---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74741564	74741564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1																		---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888103	74888103	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74888103C>A	uc002aye.2	+	9	1875	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R	ARID3B_uc002ayd.2_Missense_Mutation_p.S557R|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	558	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75117871	75117871	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75117871G>A	uc002ayt.1	+	14	1508	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	LMAN1L_uc010bke.1_Silent_p.L490L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	502	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0																		---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75646609	75646609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75646609G>A	uc002bad.2	+	7	1371	c.865G>A	c.(865-867)GCA>ACA	p.A289T	NEIL1_uc002bae.2_Missense_Mutation_p.A375T|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	289					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1													BER_DNA_glycosylases					---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75648486	75648486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75648486C>T	uc002baf.2	-	25	2978	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Nonsense_Mutation_p.W964*|MAN2C1_uc002bah.2_Nonsense_Mutation_p.W1004*|MAN2C1_uc010bkk.2_Nonsense_Mutation_p.W888*	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	987					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75969124	75969124	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75969124G>A	uc002baw.2	-	10	5829	c.5736C>T	c.(5734-5736)AGC>AGT	p.S1912S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1912	CSPG 13.|Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TSPAN3	10099	broad.mit.edu	37	15	77348527	77348527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77348527A>G	uc002bcj.2	-	2	351	c.134T>C	c.(133-135)TTT>TCT	p.F45S	TSPAN3_uc002bck.2_Missense_Mutation_p.F45S|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	45	Extracellular (Potential).					integral to membrane					0				all cancers(203;1.14e-19)														---	---	---	---
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0																		---	---	---	---
IDH3A	3419	broad.mit.edu	37	15	78452424	78452424	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78452424T>C	uc002bdd.2	+						IDH3A_uc010umt.1_Intron|IDH3A_uc010umu.1_Intron|IDH3A_uc002bde.2_Intron|IDH3A_uc010umv.1_Intron|IDH3A_uc002bdf.2_Intron|IDH3A_uc002bdg.2_5'UTR	NM_005530	NP_005521			isocitrate dehydrogenase 3 (NAD+) alpha						carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---
WDR61	80349	broad.mit.edu	37	15	78582013	78582013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78582013T>C	uc002bdn.2	-	7	586	c.510A>G	c.(508-510)GGA>GGG	p.G170G	WDR61_uc002bdo.2_Silent_p.G170G	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	170	WD 4.						protein binding			ovary(1)|skin(1)	2																		---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78732142	78732142	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78732142G>A	uc002bdr.2	+	2	187	c.25G>A	c.(25-27)GCC>ACC	p.A9T	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A9T	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	9							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78834954	78834954	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78834954T>C	uc002bdu.3	+	4	334	c.176T>C	c.(175-177)GTC>GCC	p.V59A	PSMA4_uc010blf.2_Missense_Mutation_p.V59A|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Missense_Mutation_p.V35A|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78837210	78837210	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78837210G>T	uc002bdu.3	+	6	446	c.288_splice	c.e6-1	p.R96_splice	PSMA4_uc010blf.2_Splice_Site_p.R96_splice|PSMA4_uc002bdv.3_Splice_Site_p.R25_splice|PSMA4_uc002bdw.3_Splice_Site_p.R72_splice|PSMA4_uc002bdx.3_Splice_Site_p.R25_splice	NM_002789	NP_002780			proteasome alpha 4 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78841185	78841185	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78841185A>G	uc002bdu.3	+	9	843	c.685A>G	c.(685-687)AAA>GAA	p.K229E	PSMA4_uc010blf.2_Missense_Mutation_p.K229E|PSMA4_uc002bdv.3_Missense_Mutation_p.K158E|PSMA4_uc002bdw.3_Missense_Mutation_p.K205E|PSMA4_uc002bdx.3_Missense_Mutation_p.K158E	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	229					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78922159	78922159	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78922159T>C	uc002bed.1	-	5	600	c.488A>G	c.(487-489)GAC>GGC	p.D163G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	163	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0																		---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79288103	79288103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79288103C>T	uc002beq.2	-	21	3429	c.3054G>A	c.(3052-3054)ACG>ACA	p.T1018T	RASGRF1_uc002bep.2_Silent_p.T1002T|RASGRF1_uc010blm.1_Silent_p.T927T|RASGRF1_uc002ber.3_Silent_p.T1002T|RASGRF1_uc010unh.1_Silent_p.T413T|RASGRF1_uc002beo.2_Silent_p.T234T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1020					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79748674	79748674	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79748674C>T	uc002bew.1	+	2	260	c.185C>T	c.(184-186)GCC>GTC	p.A62V	KIAA1024_uc010unk.1_Missense_Mutation_p.A62V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	62						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749496	79749496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79749496C>T	uc002bew.1	+	2	1082	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	KIAA1024_uc010unk.1_Missense_Mutation_p.A336V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	336						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
MTHFS	10588	broad.mit.edu	37	15	80137564	80137564	+	Silent	SNP	C	T	T	rs150067777	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80137564C>T	uc002bex.3	-	3	640	c.600G>A	c.(598-600)TCG>TCA	p.S200S	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	200					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)														---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80263396	80263396	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80263396C>T	uc002bfc.3	-	1	248	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	BCL2A1_uc002bfd.3_Silent_p.Q22Q	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	BCL2-related protein A1 isoform 1	22					anti-apoptosis|apoptosis	cytoplasm	protein binding			pancreas(1)	1																		---	---	---	---
KIAA1199	57214	broad.mit.edu	37	15	81241186	81241186	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81241186T>C	uc002bfw.1	+	29	4267	c.4007T>C	c.(4006-4008)GTG>GCG	p.V1336A	KIAA1199_uc010unn.1_Missense_Mutation_p.V1336A|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1336										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
MESDC2	23184	broad.mit.edu	37	15	81274436	81274436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81274436G>A	uc002bfy.1	-	2	374	c.301C>T	c.(301-303)CCT>TCT	p.P101S	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	101	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0																		---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598350	81598350	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81598350G>A	uc002bgh.3	+	17	3898	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1216T|IL16_uc002bgg.2_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.2_Silent_p.T668T|IL16_uc002bgk.2_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1174	PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81650613	81650613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81650613A>G	uc002bgo.1	-	7	620	c.620T>C	c.(619-621)GTC>GCC	p.V207A	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.V207A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	207	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336468	82336468	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82336468A>G	uc002bgq.1	-	2	1058	c.743T>C	c.(742-744)GTG>GCG	p.V248A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	248					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575356	82575356	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82575356G>A	uc002bgv.2	+	3	1219	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	FAM154B_uc010unr.1_Missense_Mutation_p.G369S|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	384										skin(2)	2																		---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83240228	83240228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83240228G>A	uc002bit.2	-	3	562	c.425C>T	c.(424-426)GCG>GTG	p.A142V	CPEB1_uc002biq.2_Missense_Mutation_p.A7V|CPEB1_uc002bir.2_Missense_Mutation_p.A7V|CPEB1_uc002bis.2_Missense_Mutation_p.A7V|CPEB1_uc010uod.1_5'UTR|CPEB1_uc010uoe.1_Missense_Mutation_p.A85V|CPEB1_uc002biu.2_Missense_Mutation_p.A109V|CPEB1_uc010uof.1_Missense_Mutation_p.A7V|CPEB1_uc002biv.2_Missense_Mutation_p.A82V	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	82					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83456128	83456128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83456128C>T	uc002bjd.2	-	2	182	c.15G>A	c.(13-15)TCG>TCA	p.S5S	FSD2_uc010uol.1_Silent_p.S5S|FSD2_uc010uom.1_Silent_p.S5S	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	5										central_nervous_system(1)	1																		---	---	---	---
WHAMM	123720	broad.mit.edu	37	15	83481966	83481966	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83481966T>C	uc002bje.2	+	2	1227	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	241						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0																		---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83677350	83677350	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83677350A>T	uc010uoo.1	-	3	350	c.316T>A	c.(316-318)TAT>AAT	p.Y106N	C15orf40_uc010uon.1_Missense_Mutation_p.Y106N|C15orf40_uc002bjm.2_Missense_Mutation_p.Y106N|C15orf40_uc010uop.1_Missense_Mutation_p.Y106N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.Y106N	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207 isoform d	79										skin(1)	1																		---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83710472	83710472	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83710472A>G	uc002bjn.2	-						BTBD1_uc002bjo.2_Intron	NM_025238	NP_079514			BTB (POZ) domain containing 1 isoform 1							cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)														---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805252	83805252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83805252G>A	uc002bjp.2	+	10	1050	c.941G>A	c.(940-942)GGT>GAT	p.G314D	TM6SF1_uc010bmq.2_Missense_Mutation_p.G283D|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Missense_Mutation_p.G166D	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	314						integral to membrane				ovary(1)	1																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83931934	83931934	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83931934C>A	uc002bjt.1	-	4	2157	c.2069G>T	c.(2068-2070)AGG>ATG	p.R690M	BNC1_uc010uos.1_Missense_Mutation_p.R678M	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	690					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83932495	83932495	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83932495T>G	uc002bjt.1	-	4	1596	c.1508A>C	c.(1507-1509)AAC>ACC	p.N503T	BNC1_uc010uos.1_Missense_Mutation_p.N491T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	503					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164124	85164124	+	Missense_Mutation	SNP	G	A	A	rs147069559		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85164124G>A	uc002bkr.2	+	3	924	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	ZSCAN2_uc010bmz.1_Missense_Mutation_p.R231Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.R83Q|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	233	C2H2-type 1.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)														---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327807	85327807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85327807G>A	uc002bld.2	+	4	2237	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	634	C2H2-type 2; atypical.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383526	85383526	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383526G>A	uc002ble.2	+	5	1789	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	541					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383680	85383680	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383680C>A	uc002ble.2	+	5	1943	c.1776C>A	c.(1774-1776)GCC>GCA	p.A592A		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	592					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85399886	85399886	+	Silent	SNP	G	A	A	rs141003674		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85399886G>A	uc002ble.2	+	6	2690	c.2523G>A	c.(2521-2523)ACG>ACA	p.T841T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	841					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438167	85438167	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85438167C>A	uc002blg.2	+						SLC28A1_uc010upd.1_Intron|SLC28A1_uc010bnb.2_Intron|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron|SLC28A1_uc002blf.2_Intron	NM_004213	NP_004204			solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659309	85659309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85659309G>A	uc002blh.2	+	16	1683	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*	PDE8A_uc002bli.2_Nonsense_Mutation_p.W452*|PDE8A_uc010bnc.2_Nonsense_Mutation_p.W251*|PDE8A_uc010bnd.2_Nonsense_Mutation_p.W251*|PDE8A_uc002blj.2_Nonsense_Mutation_p.W118*|PDE8A_uc002blk.2_Nonsense_Mutation_p.W118*	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	498					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122596	86122596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86122596C>T	uc002blv.1	+	7	1467	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	AKAP13_uc002blt.1_Missense_Mutation_p.P433S|AKAP13_uc002blu.1_Missense_Mutation_p.P433S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697774	86697774	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86697774C>T	uc002blz.1	+	3	318	c.238C>T	c.(238-240)CGT>TGT	p.R80C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86790986	86790986	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86790986C>A	uc002blz.1	+	6	553	c.473C>A	c.(472-474)GCC>GAC	p.A158D		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	158					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678533	88678533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88678533A>G	uc002bme.1	-	9	1165	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	NTRK3_uc002bmh.2_Missense_Mutation_p.W335R|NTRK3_uc002bmf.1_Missense_Mutation_p.W335R|NTRK3_uc010upl.1_Missense_Mutation_p.W237R|NTRK3_uc010bnh.1_Missense_Mutation_p.W335R|NTRK3_uc002bmg.2_Missense_Mutation_p.W335R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	335	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88726694	88726694	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88726694C>G	uc002bme.1	-	4	512	c.350G>C	c.(349-351)AGC>ACC	p.S117T	NTRK3_uc002bmh.2_Missense_Mutation_p.S117T|NTRK3_uc002bmf.1_Missense_Mutation_p.S117T|NTRK3_uc010upl.1_Missense_Mutation_p.S19T|NTRK3_uc010bnh.1_Missense_Mutation_p.S117T|NTRK3_uc002bmg.2_Missense_Mutation_p.S117T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	117	LRR 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
AEN	64782	broad.mit.edu	37	15	89169940	89169940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89169940A>G	uc002bmt.2	+	2	651	c.500A>G	c.(499-501)CAC>CGC	p.H167R	AEN_uc010bnl.2_Missense_Mutation_p.H167R|AEN_uc010bnm.1_Missense_Mutation_p.H167R	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	167	Exonuclease.|Nuclear localization signal.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0																		---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89811723	89811723	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89811723T>C	uc010bnp.1	+	10	939	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	FANCI_uc002bnm.1_Silent_p.Y283Y|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Y104Y	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	283					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89844640	89844640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89844640T>C	uc010bnp.1	+	27	3063	c.2973T>C	c.(2971-2973)AGT>AGC	p.S991S	FANCI_uc002bnm.1_Silent_p.S931S|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.S752S|FANCI_uc002bnq.1_Silent_p.S404S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	991					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
POLG	5428	broad.mit.edu	37	15	89864450	89864450	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89864450G>A	uc002bns.3	-	17	2922	c.2640C>T	c.(2638-2640)GCC>GCT	p.A880A	POLG_uc002bnr.3_Silent_p.A880A	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	880					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLG	5428	broad.mit.edu	37	15	89871936	89871936	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89871936C>T	uc002bns.3	-	5	1432	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	POLG_uc002bnr.3_Missense_Mutation_p.D384N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	384					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90128935	90128935	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90128935G>A	uc002boe.2	+							NM_152259	NP_689472			leucine-rich repeat kinase 1						cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90276280	90276280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90276280C>T	uc002boj.2	+	13	1475	c.1374C>T	c.(1372-1374)TGC>TGT	p.C458C	WDR93_uc010bnr.2_Intron|WDR93_uc010upz.1_Silent_p.C175C	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	458					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90344794	90344794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90344794G>A	uc002bop.3	-	11	1906	c.1614C>T	c.(1612-1614)GAC>GAT	p.D538D		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	538	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90349552G>A	uc002bop.3	-	2	555	c.263C>T	c.(262-264)ACG>ATG	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	88	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90802126	90802126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90802126T>C	uc002bpd.1	+	10	1607	c.1319T>C	c.(1318-1320)CTT>CCT	p.L440P	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	440					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)															---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90902116	90902116	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90902116G>A	uc002bpk.3	+	3	324	c.138G>A	c.(136-138)GAG>GAA	p.E46E		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
BLM	641	broad.mit.edu	37	15	91292795	91292795	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91292795A>G	uc002bpr.2	+	3	394	c.297A>G	c.(295-297)ACA>ACG	p.T99T	BLM_uc010uqh.1_Silent_p.T99T|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.T99T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	99					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
BLM	641	broad.mit.edu	37	15	91293254	91293254	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91293254T>G	uc002bpr.2	+	3	853	c.756T>G	c.(754-756)GCT>GCG	p.A252A	BLM_uc010uqh.1_Silent_p.A252A|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.A252A	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	252					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
FES	2242	broad.mit.edu	37	15	91430451	91430451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91430451G>A	uc002bpv.2	+	5	615	c.519G>A	c.(517-519)GTG>GTA	p.V173V	FES_uc010uqj.1_Silent_p.V115V|FES_uc010uqk.1_Silent_p.V155V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V115V|FES_uc002bpx.2_Silent_p.V173V|FES_uc002bpy.2_Silent_p.V115V	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	173	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436381	91436381	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436381C>T	uc002bpv.2	+	15	1974	c.1878C>T	c.(1876-1878)TGC>TGT	p.C626C	FES_uc010uqj.1_Silent_p.C498C|FES_uc010uqk.1_Silent_p.C608C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Silent_p.C556C|FES_uc002bpy.2_Silent_p.C568C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	626	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436956	91436956	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436956A>T	uc002bpv.2	+	17	2214	c.2118A>T	c.(2116-2118)CGA>CGT	p.R706R	FES_uc010uqj.1_Silent_p.R578R|FES_uc010uqk.1_Silent_p.R688R|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.R565R|FES_uc002bpx.2_Silent_p.R636R|FES_uc002bpy.2_Silent_p.R648R	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	706	Protein kinase.			R->Q: Negligible effect on autophosphorylation and kinase activity.	axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91454609	91454609	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91454609G>A	uc010bnz.2	+						MAN2A2_uc010boa.2_3'UTR|MAN2A2_uc002bqc.2_Intron|MAN2A2_uc010uql.1_Intron|MAN2A2_uc010uqm.1_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113			mannosidase, alpha, class 2A, member 2						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91456571	91456571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91456571G>A	uc010bnz.2	+	18	2768	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	MAN2A2_uc002bqc.2_Missense_Mutation_p.A885T|MAN2A2_uc010uql.1_Missense_Mutation_p.A547T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A464T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	885					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91496278	91496278	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91496278T>C	uc002bqg.2	+	18	2761	c.2421_splice	c.e18+2	p.E807_splice	UNC45A_uc002bqd.2_Splice_Site_p.E792_splice|UNC45A_uc010uqr.1_Splice_Site_p.E199_splice|UNC45A_uc002bqi.2_Splice_Site_p.E85_splice|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141			smooth muscle cell associated protein-1 isoform						cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91504966	91504966	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91504966C>A	uc002bqj.2	+	9	1378	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	RCCD1_uc002bqk.2_Silent_p.T366T|RCCD1_uc002bql.2_Silent_p.T364T|RCCD1_uc010bob.2_Silent_p.T155T	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	366	RCC1 4.										0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91505010	91505010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91505010T>C	uc002bqj.2	+	9					RCCD1_uc002bqk.2_3'UTR|RCCD1_uc002bql.2_3'UTR|RCCD1_uc010bob.2_3'UTR	NM_033544	NP_291022			RCC1 domain containing 1												0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	T	T	rs148654261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91769874C>T	uc002bqv.2	+	1	772	c.381C>T	c.(379-381)TTC>TTT	p.F127F	SV2B_uc002bqt.2_Silent_p.F127F|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	127	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)															---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981597	92981597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92981597A>G	uc002bra.2	+	4	460	c.305A>G	c.(304-306)AAG>AGG	p.K102R	ST8SIA2_uc002brb.2_Missense_Mutation_p.K81R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	102	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015547	93015547	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015547A>T	uc002brc.1	+	1	641	c.169A>T	c.(169-171)ATG>TTG	p.M57L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	57										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015736	93015736	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015736A>G	uc002brc.1	+	1	830	c.358A>G	c.(358-360)AAC>GAC	p.N120D	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	120										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93482927	93482927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93482927G>A	uc002bsp.2	+	7	1246	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	CHD2_uc002bsm.1_Missense_Mutation_p.R224Q|CHD2_uc002bsn.2_Missense_Mutation_p.R224Q|CHD2_uc002bso.1_Missense_Mutation_p.R224Q|CHD2_uc010urb.1_Missense_Mutation_p.R237Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	224					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93489068	93489068	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93489068T>C	uc002bsp.2	+	11	1746	c.1171T>C	c.(1171-1173)TCT>CCT	p.S391P	CHD2_uc002bsn.2_Missense_Mutation_p.S391P|CHD2_uc002bso.1_Missense_Mutation_p.S391P|CHD2_uc010urb.1_Missense_Mutation_p.S404P|CHD2_uc010bof.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	391	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93528799	93528799	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93528799T>C	uc002bsp.2	+	26	3884	c.3309T>C	c.(3307-3309)AGT>AGC	p.S1103S	CHD2_uc002bso.1_Silent_p.S1103S	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1103					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251247	99251247	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99251247G>T	uc002bul.2	+	2	601	c.551G>T	c.(550-552)GGG>GTG	p.G184V	IGF1R_uc010urq.1_Missense_Mutation_p.G184V|IGF1R_uc010bon.2_Missense_Mutation_p.G184V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	184					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99669820	99669820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99669820G>A	uc002bup.2	+	6	1375	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	SYNM_uc002buo.2_Missense_Mutation_p.V419I|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	419	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100692807	100692807	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100692807G>A	uc002bvv.1	-						ADAMTS17_uc002bvx.1_Intron	NM_139057	NP_620688			ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)														---	---	---	---
LINS1	55180	broad.mit.edu	37	15	101109963	101109963	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101109963T>A	uc002bwe.2	-	8	2045	c.1754A>T	c.(1753-1755)GAT>GTT	p.D585V	LINS1_uc002bwd.2_Missense_Mutation_p.D172V|LINS1_uc002bwf.2_Missense_Mutation_p.D585V|LINS1_uc002bwg.2_Missense_Mutation_p.D585V|LINS1_uc002bwh.2_Missense_Mutation_p.D585V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	585											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)															---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101434180	101434180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101434180C>A	uc002bwn.3	+	6	663	c.559C>A	c.(559-561)CTG>ATG	p.L187M	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	187					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438337	101438337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101438337T>A	uc002bwn.3	+	8	934	c.830T>A	c.(829-831)GTG>GAG	p.V277E	ALDH1A3_uc010bpb.2_Missense_Mutation_p.V170E|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	277					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101719007	101719007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101719007A>G	uc002bwt.1	-	4	1478	c.995T>C	c.(994-996)ATA>ACA	p.I332T	CHSY1_uc010usd.1_Missense_Mutation_p.I60T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	332	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102211755	102211755	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102211755T>C	uc002bxm.2	-	15	1956	c.1901A>G	c.(1900-1902)TAC>TGC	p.Y634C	TARSL2_uc002bxl.2_Missense_Mutation_p.Y179C|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	634					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358739	102358739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102358739C>T	uc010uts.1	+	1	350	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---
NPRL3	8131	broad.mit.edu	37	16	142647	142647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:142647A>G	uc002cfr.2	-	11	1207	c.1108T>C	c.(1108-1110)TTG>CTG	p.L370L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L191L|NPRL3_uc010uub.1_Silent_p.L345L|NPRL3_uc010uuc.1_Silent_p.L292L|NPRL3_uc002cfs.1_Silent_p.L345L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	370							protein binding			ovary(1)	1																		---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	334558	334558	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:334558G>T	uc002cgn.1	+	7	1479	c.371G>T	c.(370-372)CGC>CTC	p.R124L	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.R124L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	124	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	336467	336467	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:336467A>G	uc002cgn.1	+	13	2342	c.1234A>G	c.(1234-1236)AAG>GAG	p.K412E	PDIA2_uc010bqt.1_Missense_Mutation_p.K257E|PDIA2_uc002cgo.1_Missense_Mutation_p.K412E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	412	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	425133	425133	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:425133T>A	uc002cgu.3	-	8	1568	c.1439A>T	c.(1438-1440)GAG>GTG	p.E480V	TMEM8A_uc002cgv.3_Missense_Mutation_p.E287V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	480	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3																		---	---	---	---
SOLH	6650	broad.mit.edu	37	16	597774	597774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:597774C>T	uc002chi.2	+	4	1299	c.936C>T	c.(934-936)GCC>GCT	p.A312A	SOLH_uc002chh.1_Silent_p.A312A	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	312					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)																---	---	---	---
C16orf11	146325	broad.mit.edu	37	16	614329	614329	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:614329G>A	uc002chk.2	+	2	1314	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	345	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PIGQ	9091	broad.mit.edu	37	16	624233	624233	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:624233G>A	uc002cho.2	+	2	261	c.159G>A	c.(157-159)CGG>CGA	p.R53R	PIGQ_uc010bqw.2_Silent_p.R53R|PIGQ_uc002chm.2_Silent_p.R53R|PIGQ_uc002chn.2_Silent_p.R53R|PIGQ_uc010uui.1_Silent_p.R67R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	53					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	675985	675985	+	Silent	SNP	G	A	A	rs149195145	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:675985G>A	uc002chr.2	+	5	545	c.429G>A	c.(427-429)GCG>GCA	p.A143A	RAB40C_uc002chq.2_Silent_p.A124A	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)																---	---	---	---
WDR90	197335	broad.mit.edu	37	16	701681	701681	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:701681G>T	uc002cii.1	+	8	828	c.774G>T	c.(772-774)CCG>CCT	p.P258P	WDR90_uc002cig.1_Silent_p.P258P|WDR90_uc002cih.1_Silent_p.P258P|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	258										ovary(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	822937	822937	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:822937C>T	uc002cjz.1	-	11	2248	c.2248G>A	c.(2248-2250)GTC>ATC	p.V750I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	399	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	823198	823198	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:823198G>A	uc002cjz.1	-	10	2070	c.2070C>T	c.(2068-2070)AAC>AAT	p.N690N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	339	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
SSTR5	6755	broad.mit.edu	37	16	1129571	1129571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1129571G>A	uc002ckq.2	+	1	791	c.703G>A	c.(703-705)GTG>ATG	p.V235M	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	235	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250495	1250495	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250495G>A	uc002cks.2	+	7	1291	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	CACNA1H_uc002ckt.2_Missense_Mutation_p.R348H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	348	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250577	1250577	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250577C>T	uc002cks.2	+						CACNA1H_uc002ckt.2_Intron	NM_021098	NP_066921			calcium channel, voltage-dependent, T type,						aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1260939	1260939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1260939G>A	uc002cks.2	+	21	4439	c.4191G>A	c.(4189-4191)GTG>GTA	p.V1397V	CACNA1H_uc002ckt.2_Silent_p.V1397V|CACNA1H_uc002cku.2_Silent_p.V103V|CACNA1H_uc010brj.2_Silent_p.V103V|CACNA1H_uc002ckv.2_Silent_p.V103V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1397	III.|Helical; Name=S4 of repeat III; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1412121	1412121	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1412121C>A	uc002clm.2	+	6	435	c.400C>A	c.(400-402)CGG>AGG	p.R134R		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	134						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)																---	---	---	---
TMEM204	79652	broad.mit.edu	37	16	1584270	1584270	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1584270G>A	uc002cmc.2	+	2					IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_5'UTR|TMEM204_uc010brr.1_5'UTR	NM_024600	NP_078876			transmembrane protein 204						response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)																---	---	---	---
IGFALS	3483	broad.mit.edu	37	16	1840991	1840991	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1840991G>A	uc002cmy.2	-	2	1509	c.1428C>T	c.(1426-1428)GAC>GAT	p.D476D	IGFALS_uc010uvn.1_Silent_p.D514D|IGFALS_uc010uvo.1_Silent_p.D110D	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	476	LRR 17.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2140480	2140480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2140480G>A	uc002cos.1	-	45	12459	c.12250C>T	c.(12250-12252)CCC>TCC	p.P4084S	PKD1_uc002cot.1_Missense_Mutation_p.P4083S|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4084	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2147934	2147934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2147934C>T	uc002cos.1	-	31	10311	c.10102G>A	c.(10102-10104)GAC>AAC	p.D3368N	PKD1_uc002cot.1_Missense_Mutation_p.D3368N|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3368	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2160411	2160411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2160411T>A	uc002cos.1	-	15	4966	c.4757A>T	c.(4756-4758)GAC>GTC	p.D1586V	PKD1_uc002cot.1_Missense_Mutation_p.D1586V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1586	PKD 11.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2164608	2164608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2164608C>T	uc002cos.1	-	11	2625	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	PKD1_uc002cot.1_Missense_Mutation_p.V806M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	806	PKD 2.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2333349	2333349	+	Nonsense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2333349G>C	uc002cpy.1	-	26	4585	c.3873C>G	c.(3871-3873)TAC>TAG	p.Y1291*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y1233*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1291					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)																---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546590	2546590	+	Silent	SNP	C	T	T	rs149371169	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2546590C>T	uc002cql.2	+	2	581	c.441C>T	c.(439-441)GAC>GAT	p.D147D	TBC1D24_uc002cqk.2_Silent_p.D147D|TBC1D24_uc002cqm.2_Silent_p.D147D|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	147	Rab-GAP TBC.		D -> H (in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons).		neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0																		---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2752389	2752389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2752389C>T	uc002crd.2	+	5	640	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	195					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2812491	2812491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2812491A>G	uc002crk.2	+	11	2511	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R	SRRM2_uc002crj.1_Silent_p.R558R|SRRM2_uc002crl.1_Silent_p.R654R|SRRM2_uc010bsu.1_Silent_p.R558R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	654	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813516	2813516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2813516A>G	uc002crk.2	+	11	3536	c.2987A>G	c.(2986-2988)TAC>TGC	p.Y996C	SRRM2_uc002crj.1_Missense_Mutation_p.Y900C|SRRM2_uc002crl.1_Missense_Mutation_p.Y996C|SRRM2_uc010bsu.1_Missense_Mutation_p.Y900C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	996	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2814127	2814127	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2814127C>T	uc002crk.2	+	11	4147	c.3598C>T	c.(3598-3600)CTG>TTG	p.L1200L	SRRM2_uc002crj.1_Silent_p.L1104L|SRRM2_uc002crl.1_Silent_p.L1200L|SRRM2_uc010bsu.1_Silent_p.L1104L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3107401	3107401	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3107401T>C	uc002cth.2	+						uc002ctj.1_Intron	NM_022468	NP_071913			matrix metalloproteinase 25 preproprotein						inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3169666	3169666	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3169666C>A	uc002cub.2	+	7	1140	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	ZNF205_uc002cua.2_Silent_p.P335P	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3170039	3170039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3170039C>T	uc002cub.2	+	7	1513	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ZNF205_uc002cua.2_Missense_Mutation_p.R460C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	460	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254364	3254364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3254364C>A	uc010uwu.1	+	1	118	c.118C>A	c.(118-120)CTG>ATG	p.L40M		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3293638	3293638	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3293638G>T	uc002cun.1	-	10	1889	c.1849C>A	c.(1849-1851)CTG>ATG	p.L617M		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	617	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)													---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3632367	3632367	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3632367G>A	uc002cvp.2	-	15	6108	c.5481C>T	c.(5479-5481)GGC>GGT	p.G1827G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1827	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3656564	3656564	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3656564A>G	uc002cvp.2	-	3	1298	c.671T>C	c.(670-672)TTG>TCG	p.L224S	BTBD12_uc002cvq.1_Missense_Mutation_p.L224S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	224	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3658827	3658827	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3658827A>G	uc002cvp.2	-	2	766	c.139T>C	c.(139-141)TCT>CCT	p.S47P	BTBD12_uc002cvq.1_Missense_Mutation_p.S47P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	47	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3740920	3740920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3740920C>A	uc002cvt.3	-	2	244	c.155G>T	c.(154-156)AGC>ATC	p.S52I	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	52					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)														OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778617	3778617	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3778617G>A	uc002cvv.2	-	31	6635	c.6431C>T	c.(6430-6432)GCC>GTC	p.A2144V	CREBBP_uc002cvw.2_Missense_Mutation_p.A2106V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2144					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843433	3843433	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3843433G>A	uc002cvv.2	-	4	1374	c.1170C>T	c.(1168-1170)AAC>AAT	p.N390N	CREBBP_uc002cvw.2_Silent_p.N390N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	390	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4029168	4029168	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164493	4164493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164493A>G	uc002cvx.2	-	2	1490	c.951T>C	c.(949-951)ATT>ATC	p.I317I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	317	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164997	4164997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164997C>T	uc002cvx.2	-	2	986	c.447G>A	c.(445-447)GCG>GCA	p.A149A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	149	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
SRL	6345	broad.mit.edu	37	16	4242609	4242609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4242609C>T	uc002cvz.3	-	6	980	c.967G>A	c.(967-969)GAG>AAG	p.E323K	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	782						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308190	4308190	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308190C>A	uc010uxg.1	-	7	1137	c.883G>T	c.(883-885)GCT>TCT	p.A295S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	295					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308199	4308199	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308199G>C	uc010uxg.1	-	7	1128	c.874C>G	c.(874-876)CAG>GAG	p.Q292E		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	292					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4409546	4409546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4409546C>T	uc002cwh.3	-	22	2305	c.2185G>A	c.(2185-2187)GTG>ATG	p.V729M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.V729M|CORO7_uc002cwg.3_Missense_Mutation_p.V509M|CORO7_uc010uxh.1_Missense_Mutation_p.V711M|CORO7_uc010uxi.1_Missense_Mutation_p.V644M|CORO7_uc002cwi.1_Missense_Mutation_p.V509M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	729	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4438557	4438557	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4438557C>T	uc002cwh.3	-	8	811	c.691G>A	c.(691-693)GGA>AGA	p.G231R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.G231R|CORO7_uc002cwg.3_Missense_Mutation_p.G11R|CORO7_uc010uxh.1_Missense_Mutation_p.G213R|CORO7_uc010uxi.1_Missense_Mutation_p.G146R|CORO7_uc002cwi.1_Missense_Mutation_p.G11R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.G11R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	231	WD 4.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																		---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4780145	4780145	+	Silent	SNP	G	A	A	rs145030609	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4780145G>A	uc002cxj.1	-	3	301	c.6C>T	c.(4-6)TCC>TCT	p.S2S	ANKS3_uc002cxi.1_5'Flank|ANKS3_uc002cxk.2_5'UTR|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Intron|ANKS3_uc002cxm.2_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	2											0																		---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4815990	4815990	+	5'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4815990G>T	uc002cxp.1	-	2					ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_5'UTR	NM_021646	NP_067678			zinc finger protein 500						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4847966	4847966	+	Missense_Mutation	SNP	G	A	A	rs147170560		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4847966G>A	uc002cxv.2	-	9	770	c.668C>T	c.(667-669)GCG>GTG	p.A223V	ROGDI_uc002cxu.2_Missense_Mutation_p.A133V|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A133V	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	223						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4851560	4851560	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4851560C>A	uc002cxv.2	-	3	246	c.144G>T	c.(142-144)CCG>CCT	p.P48P	ROGDI_uc002cxu.2_5'UTR|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_5'UTR|ROGDI_uc010bub.1_RNA	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	48						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4908571	4908571	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4908571T>C	uc002cyb.2	+	4	678	c.339T>C	c.(337-339)GGT>GGC	p.G113G	UBN1_uc010uxw.1_Silent_p.G113G|UBN1_uc002cyc.2_Silent_p.G113G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	113	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4920857	4920857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4920857G>A	uc002cyb.2	+	11	1782	c.1443G>A	c.(1441-1443)GAG>GAA	p.E481E	UBN1_uc010uxw.1_Silent_p.E481E|UBN1_uc002cyc.2_Silent_p.E481E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5056027	5056027	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5056027A>T	uc002cye.2	+	12	1595	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	472	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8722970	8722970	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8722970A>G	uc002cyz.2	+						C16orf68_uc002cza.2_Intron	NM_024109	NP_077014			hypothetical protein LOC79091								methyltransferase activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8735041	8735041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8735041G>T	uc002cyz.2	+	7	1102	c.826G>T	c.(826-828)GAT>TAT	p.D276Y	C16orf68_uc002cza.2_Missense_Mutation_p.D220Y	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	276							methyltransferase activity				0																		---	---	---	---
PMM2	5373	broad.mit.edu	37	16	8900242	8900242	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8900242A>G	uc002czf.3	+	4	395	c.325A>G	c.(325-327)AAA>GAA	p.K109E	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.K26E|PMM2_uc010uyh.1_Intron|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Intron|PMM2_uc010uye.1_Missense_Mutation_p.K109E	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	109					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1																		---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8952326	8952326	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8952326C>T	uc002czh.1	-	3	512	c.162G>A	c.(160-162)ACG>ACA	p.T54T	PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Silent_p.T54T	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN	calcium-regulated heat-stable protein 1	54					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding				0																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8988948C>T	uc002czl.2	-	28	3178	c.2979G>A	c.(2977-2979)GCG>GCA	p.A993A	USP7_uc010uyk.1_Silent_p.A894A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.A894A|USP7_uc002czk.2_Silent_p.A977A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3																		---	---	---	---
NUBP1	4682	broad.mit.edu	37	16	10846529	10846529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10846529A>G	uc002daa.1	+	4	344	c.321A>G	c.(319-321)GGA>GGG	p.G107G	NUBP1_uc010bum.1_Missense_Mutation_p.R14G|NUBP1_uc002dab.1_Silent_p.G107G	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	107					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11001075	11001075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11001075G>A	uc002dai.3	+	11	1859	c.1726G>A	c.(1726-1728)GCA>ACA	p.A576T	CIITA_uc002daj.3_Missense_Mutation_p.A577T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A576T|CIITA_uc002dah.2_Missense_Mutation_p.A528T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	576	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217761	11217761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11217761G>T	uc002dao.2	+	21	2661	c.2431G>T	c.(2431-2433)GGC>TGC	p.G811C	CLEC16A_uc002dan.3_Missense_Mutation_p.G793C|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	811										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11941581	11941581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11941581T>C	uc002dbp.1	-	3	401	c.328A>G	c.(328-330)ACA>GCA	p.T110A	RSL1D1_uc010buv.1_Missense_Mutation_p.T110A|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	110					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12450122	12450122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12450122G>A	uc002dby.3	+	9	786	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14020418	14020418	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14020418G>A	uc002dce.2	+	3	398	c.389G>A	c.(388-390)GGC>GAC	p.G130D	ERCC4_uc010bva.2_Missense_Mutation_p.G130D	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	130					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14041574	14041574	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14041574A>G	uc002dce.2	+	11	2130	c.2121A>G	c.(2119-2121)GAA>GAG	p.E707E	ERCC4_uc010uyz.1_Silent_p.E257E	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	707	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14951484	14951484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14951484C>T	uc002dcv.2	+	11	1258	c.1192C>T	c.(1192-1194)CCT>TCT	p.P398S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	398	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14988844	14988844	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14988844G>A	uc002dcv.2	+							NM_014287	NP_055102			nodal modulator 1 precursor							integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NTAN1	123803	broad.mit.edu	37	16	15131997	15131997	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15131997A>T	uc002ddd.2	-	10	829	c.824T>A	c.(823-825)TTA>TAA	p.L275*	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Nonsense_Mutation_p.L170*	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	275						cytoplasm					0																		---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15180276	15180276	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15180276A>G	uc002dde.2	-	4	356	c.288T>C	c.(286-288)CGT>CGC	p.R96R	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_5'UTR|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Silent_p.R96R	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15719361	15719361	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15719361T>C	uc002ddr.2	-	8	2014	c.1821A>G	c.(1819-1821)AAA>AAG	p.K607K	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Silent_p.K603K|KIAA0430_uc010uzw.1_Silent_p.K605K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	606						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15815483	15815483	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15815483G>T	uc002ddy.2	-	32	4481	c.4374C>A	c.(4372-4374)GCC>GCA	p.A1458A	MYH11_uc002ddv.2_Silent_p.A1465A|MYH11_uc002ddw.2_Silent_p.A1458A|MYH11_uc002ddx.2_Silent_p.A1465A|MYH11_uc010bvg.2_Silent_p.A1290A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A164A|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1458	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16139870	16139870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16139870G>A	uc010bvi.2	+	9	1393	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	ABCC1_uc010bvj.2_Silent_p.K406K|ABCC1_uc010bvk.2_Silent_p.K406K|ABCC1_uc010bvl.2_Silent_p.K406K|ABCC1_uc010bvm.2_Silent_p.K406K|ABCC1_uc002del.3_Silent_p.K290K|ABCC1_uc010bvn.2_Silent_p.K269K	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	406	Cytoplasmic.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16208879	16208879	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16208879G>A	uc010bvi.2	+	23	3511	c.3336G>A	c.(3334-3336)ACG>ACA	p.T1112T	ABCC1_uc010bvj.2_Silent_p.T1053T|ABCC1_uc010bvk.2_Silent_p.T1056T|ABCC1_uc010bvl.2_Silent_p.T1112T|ABCC1_uc010bvm.2_Silent_p.T997T|ABCC1_uc002del.3_Silent_p.T1006T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1112	Helical; Name=15.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16257015	16257015	+	Missense_Mutation	SNP	C	T	T	rs63750427		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16257015C>T	uc002den.3	-	24	3378	c.3341G>A	c.(3340-3342)CGC>CAC	p.R1114H	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1114	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		R -> P (in PXE; autosomal recessive).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16302603	16302603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16302603T>C	uc002den.3	-	7	813	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.N271S	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	259	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17228514	17228514	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17228514A>G	uc002dfa.2	-	9	1928	c.1843T>C	c.(1843-1845)TAC>CAC	p.Y615H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	615	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---
NOMO2	283820	broad.mit.edu	37	16	18542829	18542829	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18542829A>G	uc002dfe.2	-	13	1568	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	NOMO2_uc002dff.2_Missense_Mutation_p.V499A|NOMO2_uc010bvx.2_Missense_Mutation_p.V332A	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1																		---	---	---	---
ARL6IP1	23204	broad.mit.edu	37	16	18806808	18806808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18806808A>C	uc002dfl.1	-	4	455	c.386T>G	c.(385-387)CTA>CGA	p.L129R	ARL6IP1_uc010van.1_Missense_Mutation_p.L100R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	129						integral to membrane	protein binding				0																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847478	18847478	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18847478A>G	uc002dfm.2	-	48	8197	c.7834T>C	c.(7834-7836)TTG>CTG	p.L2612L	SMG1_uc010bwb.2_Silent_p.L2472L|SMG1_uc010bwa.2_Silent_p.L1343L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2612					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18896923	18896923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18896923A>G	uc002dfm.2	-	7	1251	c.888T>C	c.(886-888)TGT>TGC	p.C296C	SMG1_uc010bwb.2_Silent_p.C156C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	296	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126792	19126792	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126792C>A	uc002dfu.3	+	1	1539	c.1009C>A	c.(1009-1011)CTC>ATC	p.L337I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.L33I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	337	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126815	19126815	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126815G>T	uc002dfu.3	+	1	1562	c.1032G>T	c.(1030-1032)GAG>GAT	p.E344D	ITPRIPL2_uc002dft.2_Missense_Mutation_p.E40D	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	344	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19195180G>A	uc002dfw.2	+	5	993	c.662G>A	c.(661-663)CGC>CAC	p.R221H	SYT17_uc002dfx.2_Missense_Mutation_p.R160H|SYT17_uc002dfy.2_Missense_Mutation_p.R217H|SYT17_uc002dfv.1_Missense_Mutation_p.R160H	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	221	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1																		---	---	---	---
CP110	9738	broad.mit.edu	37	16	19548587	19548587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19548587G>A	uc002dgl.3	+	4	1843	c.1596G>A	c.(1594-1596)GAG>GAA	p.E532E	CP110_uc002dgk.3_Silent_p.E532E			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	532	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19627476	19627476	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19627476A>G	uc002dgn.1	+	13	1076	c.1064A>G	c.(1063-1065)AAT>AGT	p.N355S	C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Missense_Mutation_p.N104S|C16orf62_uc002dgm.1_Missense_Mutation_p.N355S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	355						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19639135	19639135	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19639135C>A	uc002dgn.1	+						C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Intron	NM_020314	NP_064710			hypothetical protein LOC57020							integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19680566	19680566	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19680566A>T	uc002dgn.1	+	27	2318	c.2306A>T	c.(2305-2307)GAA>GTA	p.E769V	C16orf62_uc002dgo.1_Missense_Mutation_p.E676V|C16orf62_uc002dgp.1_Missense_Mutation_p.E518V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	769						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19710844	19710844	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19710844G>A	uc002dgn.1	+	30	2679	c.2667G>A	c.(2665-2667)TCG>TCA	p.S889S	C16orf62_uc002dgo.1_Silent_p.S796S|C16orf62_uc002dgp.1_Silent_p.S638S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	889						integral to membrane				ovary(1)	1																		---	---	---	---
GP2	2813	broad.mit.edu	37	16	20330936	20330936	+	Intron	SNP	C	T	T	rs72776648	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20330936C>T	uc002dgv.2	-						GP2_uc002dgw.2_Intron|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241			zymogen granule membrane glycoprotein 2 isoform							anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20352615	20352615	+	Missense_Mutation	SNP	G	A	A	rs139607138	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20352615G>A	uc002dgz.2	-	7	1504	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	UMOD_uc002dha.2_Missense_Mutation_p.R459W|UMOD_uc002dhb.2_Missense_Mutation_p.R492W	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20386160	20386160	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20386160A>G	uc002dhc.1	-	5	888	c.665T>C	c.(664-666)GTC>GCC	p.V222A		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	222					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1																		---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20851156	20851156	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20851156T>A	uc002dhv.2	+	14	1726	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V488D|LOC81691_uc002dhw.2_Missense_Mutation_p.V231D|LOC81691_uc002dhy.3_Missense_Mutation_p.V488D	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	488						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975196	20975196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20975196G>A	uc010vbe.1	-	53	10010	c.10010C>T	c.(10009-10011)ACG>ATG	p.T3337M	DNAH3_uc010vbd.1_Missense_Mutation_p.T772M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21031117	21031117	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21031117G>A	uc010vbe.1	-	41	5851	c.5851C>T	c.(5851-5853)CTC>TTC	p.L1951F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1951					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21061243	21061243	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21061243G>T	uc010vbe.1	-	30	4335	c.4335C>A	c.(4333-4335)GCC>GCA	p.A1445A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1445	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21086796	21086796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21086796G>A	uc010vbe.1	-	21	3056	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1019	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21273385	21273385	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21273385C>A	uc002dik.2	-	6	853	c.768G>T	c.(766-768)AAG>AAT	p.K256N	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K214N|CRYM_uc002dim.2_Missense_Mutation_p.K256N	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	256					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)													---	---	---	---
METTL9	51108	broad.mit.edu	37	16	21624098	21624098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21624098T>C	uc002dje.2	+	2	497	c.298T>C	c.(298-300)TAT>CAT	p.Y100H	uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.Y100H	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	100										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)														---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22151568	22151568	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22151568A>G	uc010vbq.1	+						VWA3A_uc010bxd.2_Intron	NM_173615	NP_775886			von Willebrand factor A domain containing 3A							extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)														---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22335840	22335840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22335840T>C	uc002dkk.2	+	16	1301	c.1145T>C	c.(1144-1146)GTG>GCG	p.V382A	POLR3E_uc002dkj.1_Missense_Mutation_p.V382A|POLR3E_uc002dkm.2_Missense_Mutation_p.V346A|POLR3E_uc010vbr.1_Missense_Mutation_p.V382A|POLR3E_uc002dkl.2_Missense_Mutation_p.V382A|POLR3E_uc010vbs.1_Missense_Mutation_p.V346A|POLR3E_uc010vbt.1_Missense_Mutation_p.V326A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	382					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)														---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926539	22926539	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079803	23079803	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079803C>A	uc002dll.2	-	16	3623	c.3623G>T	c.(3622-3624)AGC>ATC	p.S1208I	USP31_uc002dlk.2_Missense_Mutation_p.S480I|USP31_uc010vca.1_Missense_Mutation_p.S511I|USP31_uc010bxm.2_Missense_Mutation_p.S496I	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1208	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079919	23079919	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079919G>A	uc002dll.2	-	16	3507	c.3507C>T	c.(3505-3507)AGC>AGT	p.S1169S	USP31_uc002dlk.2_Silent_p.S441S|USP31_uc010vca.1_Silent_p.S472S|USP31_uc010bxm.2_Silent_p.S457S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1169	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080308	23080308	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23080308G>A	uc002dll.2	-	16	3118	c.3118C>T	c.(3118-3120)CGG>TGG	p.R1040W	USP31_uc002dlk.2_Missense_Mutation_p.R312W|USP31_uc010vca.1_Missense_Mutation_p.R343W|USP31_uc010bxm.2_Missense_Mutation_p.R328W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1040	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23208672	23208672	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23208672A>G	uc002dlm.1	+	6	1140	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	334	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23223385	23223385	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23223385A>G	uc002dlm.1	+	8	1346	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	403	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23366710	23366710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23366710A>G	uc002dln.2	+	4	852	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	226	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23383173	23383173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23383173A>G	uc002dln.2	+	7	1297	c.1121A>G	c.(1120-1122)TAC>TGC	p.Y374C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	374	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
COG7	91949	broad.mit.edu	37	16	23453914	23453914	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23453914A>G	uc002dlo.2	-	4	676	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	163					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
NDUFAB1	4706	broad.mit.edu	37	16	23607444	23607444	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23607444C>A	uc002dlw.2	-	1	196	c.168G>T	c.(166-168)CAG>CAT	p.Q56H		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	56					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24046880	24046880	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24046880T>C	uc002dmd.2	+						PRKCB_uc002dme.2_Intron	NM_212535	NP_997700			protein kinase C, beta isoform 1						apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192144	24192144	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24192144T>C	uc002dmd.2	+	13	1625	c.1428T>C	c.(1426-1428)TCT>TCC	p.S476S	PRKCB_uc002dme.2_Silent_p.S476S	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	476	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24578545	24578545	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24578545A>T	uc002dmh.2	+	15	2711	c.1671A>T	c.(1669-1671)GTA>GTT	p.V557V	RBBP6_uc010vcb.1_Silent_p.V424V|RBBP6_uc002dmi.2_Silent_p.V557V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V424V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581095	24581095	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24581095G>A	uc002dmh.2	+	17	4124	c.3084G>A	c.(3082-3084)GTG>GTA	p.V1028V	RBBP6_uc010vcb.1_Silent_p.V895V|RBBP6_uc002dmi.2_Silent_p.V994V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V861V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1028	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802947	24802947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24802947T>C	uc002dmm.2	+	6	3098	c.2984T>C	c.(2983-2985)ATA>ACA	p.I995T	TNRC6A_uc010bxs.2_Missense_Mutation_p.I742T|TNRC6A_uc010vcc.1_Missense_Mutation_p.I742T|TNRC6A_uc002dmn.2_Missense_Mutation_p.I742T|TNRC6A_uc002dmo.2_Missense_Mutation_p.I742T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	995	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24919375	24919375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24919375T>G	uc002dmu.2	+	13	1589	c.1357T>G	c.(1357-1359)TCC>GCC	p.S453A	SLC5A11_uc002dms.2_Missense_Mutation_p.S389A|SLC5A11_uc010vcd.1_Missense_Mutation_p.S418A|SLC5A11_uc002dmt.2_Missense_Mutation_p.S297A|SLC5A11_uc010vce.1_Missense_Mutation_p.S383A|SLC5A11_uc010bxt.2_Missense_Mutation_p.S389A|SLC5A11_uc002dmv.2_Missense_Mutation_p.S76A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	453	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24922695	24922695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24922695G>A	uc002dmu.2	+	16	2101	c.1869G>A	c.(1867-1869)TGG>TGA	p.W623*	SLC5A11_uc002dms.2_Nonsense_Mutation_p.W559*|SLC5A11_uc010vcd.1_Nonsense_Mutation_p.W588*|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.W467*|SLC5A11_uc010vce.1_Nonsense_Mutation_p.W553*|SLC5A11_uc010bxt.2_Nonsense_Mutation_p.W559*|SLC5A11_uc002dmv.2_Nonsense_Mutation_p.W246*	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	623	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24950789	24950789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24950789T>C	uc002dnb.2	-	17	1713	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.P64P|ARHGAP17_uc002dna.2_Silent_p.P267P|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	540	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24955129	24955129	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24955129T>C	uc002dnb.2	-	15	1389	c.1296A>G	c.(1294-1296)GAA>GAG	p.E432E	ARHGAP17_uc002dna.2_Silent_p.E159E|ARHGAP17_uc002dnc.2_Silent_p.E432E|ARHGAP17_uc010vcf.1_Silent_p.E253E	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	432	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27374122	27374122	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27374122T>G	uc002don.2	+	11	1691	c.1449T>G	c.(1447-1449)ACT>ACG	p.T483T	IL4R_uc002dop.3_Silent_p.T468T|IL4R_uc010bxy.2_Silent_p.T483T|IL4R_uc002doo.2_Silent_p.T323T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	483	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2																		---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27454346	27454346	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27454346G>A	uc002doq.1	+	5	649	c.416G>A	c.(415-417)CGC>CAC	p.R139H	IL21R_uc002dor.1_Missense_Mutation_p.R139H|IL21R_uc002dos.1_Missense_Mutation_p.R139H	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	139	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4								T	BCL6	NHL								---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27499693	27499693	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27499693G>A	uc002dov.1	-	23	3595	c.3555C>T	c.(3553-3555)TCC>TCT	p.S1185S	GTF3C1_uc002dou.2_Silent_p.S1185S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1185						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27689178	27689178	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27689178G>A	uc002dow.2	+	7	693	c.669G>A	c.(667-669)GTG>GTA	p.V223V	KIAA0556_uc002dox.1_Silent_p.V131V	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	223										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27761012	27761012	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27761012C>T	uc002dow.2	+	16	2755	c.2731C>T	c.(2731-2733)CGG>TGG	p.R911W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	911										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28604874	28604874	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28604874G>A	uc002dqg.1	-	5	739	c.388C>T	c.(388-390)CGC>TGC	p.R130C	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.R130C	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	130	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844210	28844210	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844210T>C	uc002drc.2	+	13	1827	c.1659_splice	c.e13+2	p.K553_splice	uc010vct.1_Intron|ATXN2L_uc010byl.1_Splice_Site_p.K529_splice|ATXN2L_uc002drb.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqy.2_Splice_Site_p.K553_splice|ATXN2L_uc002dra.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqz.2_Splice_Site_p.K553_splice|ATXN2L_uc010vdb.1_Splice_Site_p.K559_splice|ATXN2L_uc002dre.2_Splice_Site_p.K553_splice|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844557	28844557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844557G>A	uc002drc.2	+	14	2005	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.A589T|ATXN2L_uc002drb.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A613T|ATXN2L_uc002dra.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A613T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A619T|ATXN2L_uc002dre.2_Missense_Mutation_p.A613T|ATXN2L_uc002drf.2_Missense_Mutation_p.A22T|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	613						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28845679	28845679	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28845679C>A	uc002drc.2	+	17	2356	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqy.2_Missense_Mutation_p.P730T|ATXN2L_uc002dra.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqz.2_Missense_Mutation_p.P730T|ATXN2L_uc010vdb.1_Missense_Mutation_p.P736T|ATXN2L_uc002dre.2_Missense_Mutation_p.P730T|ATXN2L_uc002drf.2_Missense_Mutation_p.P139T|ATXN2L_uc002drg.2_Missense_Mutation_p.P12T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	730						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847720	28847720	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28847720G>A	uc002drc.2	+	22					uc010vct.1_Intron|ATXN2L_uc002drb.2_Intron|ATXN2L_uc002dqy.2_Silent_p.P1071P|ATXN2L_uc002dra.2_Intron|ATXN2L_uc002dqz.2_Intron|ATXN2L_uc010vdb.1_Intron|ATXN2L_uc002dre.2_Intron|ATXN2L_uc002drf.2_3'UTR|ATXN2L_uc002drg.2_3'UTR	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28883270	28883270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28883270C>T	uc002dri.2	+	8	1918	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P183P|SH2B1_uc002drj.2_Silent_p.P493P|SH2B1_uc002drk.2_Silent_p.P493P|SH2B1_uc002drl.2_Silent_p.P493P|SH2B1_uc010vdd.1_Silent_p.P157P|SH2B1_uc010vde.1_Silent_p.P493P|SH2B1_uc002drm.2_Silent_p.P493P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	493	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28916347	28916347	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28916347G>A	uc002drq.2	-	13	1675	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.R472C|RABEP2_uc010byn.2_Missense_Mutation_p.R507C	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	543					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931258	28931258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28931258A>G	uc002drq.2	-	3	329	c.281T>C	c.(280-282)ATC>ACC	p.I94T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.I23T|RABEP2_uc010byn.2_Missense_Mutation_p.I94T|RABEP2_uc002drr.2_Missense_Mutation_p.I94T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	94	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28995608	28995608	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28995608T>C	uc010vdi.1	+	13	1715	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.S452S|SPNS1_uc002dsa.2_Silent_p.S525S|SPNS1_uc002drz.2_Silent_p.S473S|SPNS1_uc010byp.2_Silent_p.S451S|SPNS1_uc010byq.1_Missense_Mutation_p.V400A|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	525					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0																		---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825671	29825671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29825671G>A	uc002due.3	+	3	1198	c.897G>A	c.(895-897)CAG>CAA	p.Q299Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Silent_p.Q299Q|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	299	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0																		---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891331	29891331	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29891331G>T	uc002duq.3	-	9	1667	c.1427C>A	c.(1426-1428)ACC>AAC	p.T476N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dur.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dus.3_Missense_Mutation_p.T362N|SEZ6L2_uc010vec.1_Missense_Mutation_p.T476N|SEZ6L2_uc010ved.1_Missense_Mutation_p.T432N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	476	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29990778	29990778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29990778T>C	uc002dva.1	+	8	1387	c.604T>C	c.(604-606)TAC>CAC	p.Y202H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvc.1_Missense_Mutation_p.Y202H|TAOK2_uc010bzm.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	202	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29992970	29992970	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29992970C>T	uc002dva.1	+						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Intron|TAOK2_uc002dvd.1_Missense_Mutation_p.P42L	NM_016151	NP_057235			TAO kinase 2 isoform 2						actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
DOC2A	8448	broad.mit.edu	37	16	30017638	30017638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30017638C>T	uc002dvm.2	-	11	1172	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.G356R|DOC2A_uc002dvn.2_Missense_Mutation_p.G358R|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.G358R|DOC2A_uc002dvp.2_Missense_Mutation_p.G358R|DOC2A_uc002dvq.2_Missense_Mutation_p.G358R	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	358	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2																		---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364758	30364758	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30364758A>G	uc002dxr.2	-	4	992	c.739T>C	c.(739-741)TCC>CCC	p.S247P	CD2BP2_uc002dxs.2_Missense_Mutation_p.S247P	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	247					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30507514	30507514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30507514G>A	uc002dyi.3	+	14	1776	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	ITGAL_uc002dyj.3_Missense_Mutation_p.D451N|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	534	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536163	30536163	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30536163T>C	uc002dyk.3	-	2	1474	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G	ZNF768_uc010vex.1_Missense_Mutation_p.E402G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E402G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	433	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30620959	30620959	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30620959C>T	uc002dyx.2	-	2	526	c.206G>A	c.(205-207)GGG>GAG	p.G69E	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30734045	30734045	+	Missense_Mutation	SNP	A	C	C	rs150246733	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30734045A>C	uc002dze.1	+	23	4253	c.3868A>C	c.(3868-3870)AGC>CGC	p.S1290R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S860R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1290	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30750183	30750183	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30750183G>A	uc002dze.1	+	34	9207	c.8822G>A	c.(8821-8823)CGA>CAA	p.R2941Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2736Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2941	Pro-rich.|A.T hook 2.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990644	30990644	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30990644G>A	uc002ead.1	+	14	4223	c.3537G>A	c.(3535-3537)CCG>CCA	p.P1179P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---
HSD3B7	80270	broad.mit.edu	37	16	30997914	30997914	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30997914T>C	uc002eaf.2	+						HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Intron	NM_025193	NP_079469			hydroxy-delta-5-steroid dehydrogenase, 3 beta-						bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0																		---	---	---	---
STX4	6810	broad.mit.edu	37	16	31049979	31049979	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31049979C>T	uc002eal.2	+						STX4_uc002eak.2_Intron|STX4_uc002eam.2_Intron	NM_004604	NP_004595			syntaxin 4						intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072650C>T	uc010caf.2	-	3	1956	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	ZNF668_uc002eao.2_Silent_p.R533R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	533	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072971	31072971	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072971C>T	uc010caf.2	-	3	1635	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	ZNF668_uc002eao.2_Silent_p.Q426Q	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31092587	31092587	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31092587A>C	uc002eap.2	+	2	5231	c.4942A>C	c.(4942-4944)ACC>CCC	p.T1648P		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
PRSS53	339105	broad.mit.edu	37	16	31095491	31095491	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31095491C>T	uc002eaq.2	-	10	1591	c.1591G>A	c.(1591-1593)GCC>ACC	p.A531T	PRSS53_uc002ear.2_Missense_Mutation_p.A325T	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	531					proteolysis	extracellular region	serine-type endopeptidase activity				0																		---	---	---	---
MYST1	84148	broad.mit.edu	37	16	31142181	31142181	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31142181G>A	uc002eay.2	+	10	1290	c.1272G>A	c.(1270-1272)GAG>GAA	p.E424E	MYST1_uc002eax.2_Silent_p.E424E|MYST1_uc002eaz.2_Silent_p.E266E|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	424					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1																		---	---	---	---
PRSS8	5652	broad.mit.edu	37	16	31143846	31143846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31143846G>A	uc002ebc.3	-	5	941	c.609C>T	c.(607-609)TGC>TGT	p.C203C	PRSS8_uc010vfe.1_Silent_p.C149C	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	203	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31383731	31383731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31383731C>T	uc002ebu.1	+	18	2260	c.2193C>T	c.(2191-2193)ACC>ACT	p.T731T	ITGAX_uc002ebt.2_Silent_p.T731T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	731	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31384582	31384582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31384582G>A	uc002ebu.1	+	20	2446	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ITGAX_uc002ebt.2_Silent_p.L793L	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	793	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31424522	31424522	+	Missense_Mutation	SNP	G	A	A	rs143512956		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31424522G>A	uc002ebv.1	+	16	2000	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	ITGAD_uc010cap.1_Missense_Mutation_p.A652T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	651	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31485969	31485969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31485969G>A	uc002ecd.1	+	7	631	c.605G>A	c.(604-606)GGC>GAC	p.G202D	TGFB1I1_uc002ece.1_Missense_Mutation_p.G185D|TGFB1I1_uc010caq.1_Missense_Mutation_p.G41D	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	202	Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31487398	31487398	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31487398C>A	uc002ecd.1	+	8	806	c.780C>A	c.(778-780)GCC>GCA	p.A260A	TGFB1I1_uc002ece.1_Silent_p.A243A|TGFB1I1_uc010caq.1_Silent_p.A99A	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926568	31926568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31926568A>G	uc002ecs.3	+	4	1207	c.998A>G	c.(997-999)CAT>CGT	p.H333R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	333	C2H2-type 2; atypical.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927166	31927166	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927166C>T	uc002ecs.3	+	4	1805	c.1596C>T	c.(1594-1596)TTC>TTT	p.F532F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	532	C2H2-type 8.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927343	31927343	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927343T>C	uc002ecs.3	+	4	1982	c.1773T>C	c.(1771-1773)CTT>CTC	p.L591L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	591	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927722	31927722	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927722T>G	uc002ecs.3	+	4	2361	c.2152T>G	c.(2152-2154)TGT>GGT	p.C718G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	718	C2H2-type 15.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	33647513	33647513	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:33647513G>T	uc010vga.1	-	1		c.30C>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h.																														---	---	---	---
ORC6L	23594	broad.mit.edu	37	16	46731415	46731415	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46731415A>C	uc002eeh.2	+	7	737	c.677A>C	c.(676-678)GAA>GCA	p.E226A		NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	226					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46998641	46998641	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46998641A>T	uc002eeo.2	-	6	798	c.656T>A	c.(655-657)GTC>GAC	p.V219D	DNAJA2_uc002eep.2_Missense_Mutation_p.V136D	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	219					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)																---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47497890	47497890	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47497890C>T	uc002eev.3	+						ITFG1_uc002eet.2_5'Flank|ITFG1_uc010vgh.1_5'Flank|PHKB_uc010vgi.1_Missense_Mutation_p.A14V|PHKB_uc002eeu.3_Missense_Mutation_p.A14V	NM_000293	NP_000284			phosphorylase kinase, beta isoform a						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48381563	48381563	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48381563A>T	uc002efi.1	+	13	2173	c.2084A>T	c.(2083-2085)GAG>GTG	p.E695V	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E651V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	695					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0																		---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49313459	49313459	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49313459C>A	uc002efq.2	-	3	777	c.438G>T	c.(436-438)CAG>CAT	p.Q146H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	146	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49314824	49314824	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49314824G>A	uc002efq.2	-							NM_004352	NP_004343			cerebellin 1 precursor						nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49407988	49407988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49407988A>G	uc002efr.2	+	1	181	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	46										central_nervous_system(1)	1																		---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670423	49670423	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670423G>A	uc002efs.2	-	5	2938	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	ZNF423_uc010vgn.1_Silent_p.D763D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	880					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671085	49671085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49671085G>A	uc002efs.2	-	5	2276	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	ZNF423_uc010vgn.1_Missense_Mutation_p.R543W	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50118475	50118475	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50118475T>A	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50326626A>G	uc002egd.1	+	4	845	c.577A>G	c.(577-579)ACA>GCA	p.T193A	ADCY7_uc002egb.1_Missense_Mutation_p.T193A|ADCY7_uc002egc.1_Missense_Mutation_p.T193A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	193	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)													---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50583381	50583381	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50583381A>T	uc002egg.1	+	3	331	c.107A>T	c.(106-108)GAG>GTG	p.E36V		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	36					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667258	50667258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50667258A>G	uc002egg.1	+	10	1203	c.979A>G	c.(979-981)AAG>GAG	p.K327E		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	327					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707797	50707797	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707797A>G	uc002egk.2	-	4	644	c.471T>C	c.(469-471)CGT>CGC	p.R157R	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	157	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175895	51175895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51175895A>G	uc010vgs.1	-	2	269	c.238T>C	c.(238-240)TCC>CCC	p.S80P	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	80					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504299	53504299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53504299T>C	uc002ehi.3	+	16	2368	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	RBL2_uc002ehj.2_Silent_p.I460I|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	750	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53675335	53675335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53675335A>G	uc002ehp.2	-	18	2800	c.2736T>C	c.(2734-2736)GTT>GTC	p.V912V	RPGRIP1L_uc002eho.3_Silent_p.V912V|RPGRIP1L_uc010vgy.1_Silent_p.V912V|RPGRIP1L_uc010cbx.2_Silent_p.V912V|RPGRIP1L_uc010vgz.1_Silent_p.V912V	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	912					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
FTO	79068	broad.mit.edu	37	16	54145700	54145700	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:54145700T>A	uc002ehr.2	+	9	1613	c.1391T>A	c.(1390-1392)TTA>TAA	p.L464*	FTO_uc010vha.1_Nonsense_Mutation_p.L168*|FTO_uc010cbz.2_Nonsense_Mutation_p.L65*|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	464					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362679	55362679	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55362679G>T	uc002ehy.2	+	5	1322	c.789G>T	c.(787-789)GAG>GAT	p.E263D	IRX6_uc002ehx.2_Missense_Mutation_p.E263D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6																		---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55518028	55518028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55518028C>T	uc002ehz.3	+	3	792	c.481C>T	c.(481-483)CGA>TGA	p.R161*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R85*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R111*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55525713	55525713	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55525713G>A	uc002ehz.3	+	8	1492	c.1181G>A	c.(1180-1182)GGG>GAG	p.G394E	MMP2_uc010vhd.1_Missense_Mutation_p.G318E|MMP2_uc010ccc.2_Missense_Mutation_p.G344E|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	394	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55532275	55532275	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55532275C>T	uc002ehz.3	+	11	1995	c.1684C>T	c.(1684-1686)CCC>TCC	p.P562S	MMP2_uc010vhd.1_Missense_Mutation_p.P486S|MMP2_uc010ccc.2_Missense_Mutation_p.P512S|MMP2_uc002eia.3_Missense_Mutation_p.P59S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	562	Required for inhibitor TIMP2 binding.|Hemopexin-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55583280	55583280	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55583280C>A	uc002eie.3	+	10	1208	c.1027C>A	c.(1027-1029)CTG>ATG	p.L343M	LPCAT2_uc002eic.2_Missense_Mutation_p.L73M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	343	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0																		---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55719159	55719159	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55719159T>G	uc002eif.2	+	5	860	c.749T>G	c.(748-750)TTT>TGT	p.F250C	SLC6A2_uc010ccd.2_Missense_Mutation_p.F250C|SLC6A2_uc002eig.2_Missense_Mutation_p.F250C|SLC6A2_uc002eih.2_Missense_Mutation_p.F250C|SLC6A2_uc002eii.2_Missense_Mutation_p.F145C|SLC6A2_uc002eij.2_Missense_Mutation_p.F9C	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	250	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)													---	---	---	---
CES7	221223	broad.mit.edu	37	16	55899902	55899902	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55899902G>A	uc002eip.2	-	5	827	c.678C>T	c.(676-678)TCC>TCT	p.S226S	CES7_uc002eio.2_Silent_p.S226S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S120S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	226		Acyl-ester intermediate (By similarity).				extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
CES7	221223	broad.mit.edu	37	16	55903587	55903587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55903587C>T	uc002eip.2	-	4	636	c.487G>A	c.(487-489)GCT>ACT	p.A163T	CES7_uc002eio.2_Missense_Mutation_p.A163T|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.A57T	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56501107	56501107	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56501107C>T	uc002ejb.2	+	7	789	c.688C>T	c.(688-690)CGT>TGT	p.R230C	OGFOD1_uc002ejc.2_Missense_Mutation_p.R90C	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	230	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)													---	---	---	---
NUP93	9688	broad.mit.edu	37	16	56782236	56782236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56782236T>C	uc002eka.2	+	2	198	c.77T>C	c.(76-78)CTT>CCT	p.L26P		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	26					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2																		---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56974002	56974002	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56974002T>C	uc002eke.1	+	6	1159	c.750T>C	c.(748-750)GGT>GGC	p.G250G	HERPUD1_uc002ekf.1_Silent_p.G249G|HERPUD1_uc002ekg.1_Silent_p.G225G|HERPUD1_uc010cco.1_Splice_Site_p.G311_splice|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Silent_p.G68G	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	250	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0								T	ERG	prostate								---	---	---	---
CETP	1071	broad.mit.edu	37	16	56995923	56995923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56995923T>C	uc002eki.2	+	1	89	c.32T>C	c.(31-33)CTG>CCG	p.L11P	CETP_uc002ekj.2_Missense_Mutation_p.L11P	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	11					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57601918	57601918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57601918G>A	uc002elx.3	+	9	1057	c.972G>A	c.(970-972)GCG>GCA	p.A324A	GPR114_uc010vhr.1_Silent_p.A324A|GPR114_uc002ely.2_Silent_p.A324A	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	324	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1																		---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57722382	57722382	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57722382G>A	uc002emh.2	+	12					GPR97_uc010vhv.1_3'UTR|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_3'UTR	NM_170776	NP_740746			G protein-coupled receptor 97 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---
KATNB1	10300	broad.mit.edu	37	16	57790289	57790289	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57790289C>A	uc002eml.1	+	19	2114	c.1740C>A	c.(1738-1740)ACC>ACA	p.T580T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	580	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)																---	---	---	---
TEPP	374739	broad.mit.edu	37	16	58011825	58011825	+	Silent	SNP	G	A	A	rs34782585	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58011825G>A	uc002emw.3	+	2	307	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TEPP_uc002emv.3_Silent_p.A90A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	90						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031417	58031417	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58031417C>T	uc002emx.1	-	2	1376	c.753G>A	c.(751-753)ACG>ACA	p.T251T		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	251	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58200527	58200527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58200527T>C	uc002enc.2	-	9	930	c.788A>G	c.(787-789)CAC>CGC	p.H263R		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	263	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58218226	58218226	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58218226A>G	uc002enc.2	-							NM_001896	NP_001887			casein kinase 2, alpha prime polypeptide						axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58438412G>A	uc002enh.3	+	3	638	c.430G>A	c.(430-432)GGA>AGA	p.G144R	GINS3_uc010cdj.2_Missense_Mutation_p.G183R|GINS3_uc002enj.3_Missense_Mutation_p.G66R|GINS3_uc002eni.3_Missense_Mutation_p.R145Q	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	144					DNA replication	nucleus					0																		---	---	---	---
SETD6	79918	broad.mit.edu	37	16	58550154	58550154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58550154C>T	uc002ens.2	+	3	442	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SETD6_uc010cdl.2_Missense_Mutation_p.A128V|SETD6_uc002enr.2_Missense_Mutation_p.A104V|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.A52V	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	128	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58568040	58568040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58568040G>A	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589714	58589714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58589714G>A	uc002env.2	-	20	2871	c.2578C>T	c.(2578-2580)CCA>TCA	p.P860S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P855S|CNOT1_uc002enx.2_Missense_Mutation_p.P860S|CNOT1_uc002enz.1_Missense_Mutation_p.P289S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	860					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58712265	58712265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58712265T>C	uc002eod.1	-	5	976	c.583A>G	c.(583-585)AGG>GGG	p.R195G	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Missense_Mutation_p.R195G|SLC38A7_uc010vil.1_Missense_Mutation_p.R106G|SLC38A7_uc002eoe.1_Missense_Mutation_p.R195G	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	195	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65032464	65032464	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:65032464C>G	uc002eoi.2	-	4	957	c.523_splice	c.e4+1	p.G175_splice	CDH11_uc010cdn.2_Splice_Site|CDH11_uc002eoj.2_Splice_Site_p.G175_splice|CDH11_uc010vin.1_Splice_Site_p.G49_splice	NM_001797	NP_001788			cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)				T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66424419	66424419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)														---	---	---	---
TK2	7084	broad.mit.edu	37	16	66575795	66575795	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66575795G>A	uc002eos.2	-	3	569	c.344C>T	c.(343-345)GCG>GTG	p.A115V	TK2_uc010vip.1_5'UTR|TK2_uc002eor.2_Missense_Mutation_p.A42V|TK2_uc010cdq.2_Missense_Mutation_p.A42V|TK2_uc010cdr.2_Missense_Mutation_p.A24V|TK2_uc010viq.1_Missense_Mutation_p.A115V|TK2_uc010vir.1_Intron	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)														---	---	---	---
CMTM2	146225	broad.mit.edu	37	16	66613716	66613716	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66613716G>T	uc002ept.2	+	1	366	c.206G>T	c.(205-207)CGC>CTC	p.R69L	CMTM2_uc010cdu.2_Missense_Mutation_p.R69L	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	69					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)														---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66764088	66764088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66764088A>G	uc002eqb.1	-	8	999	c.968T>C	c.(967-969)TTA>TCA	p.L323S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L246S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	323					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)														---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180991	67180991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67180991C>T	uc002erc.2	+	17	1310	c.1226C>T	c.(1225-1227)CCC>CTC	p.P409L	C16orf70_uc002erd.2_Missense_Mutation_p.P409L|uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	409										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)														---	---	---	---
NOL3	8996	broad.mit.edu	37	16	67208597	67208597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67208597A>G	uc010vjd.1	+	3	552	c.545A>G	c.(544-546)CAT>CGT	p.H182R	NOL3_uc010vjc.1_Silent_p.T185T|NOL3_uc002erp.2_Silent_p.T123T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	120					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67381447	67381447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67381447T>C	uc002esv.2	+	4	460	c.441T>C	c.(439-441)TTT>TTC	p.F147F	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Silent_p.F26F|LRRC36_uc002esx.2_Silent_p.F26F|LRRC36_uc010vjk.1_Silent_p.F26F|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	147											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575559	67575559	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575559C>A	uc010vjp.1	+	12	1110	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM65A_uc010cei.1_Silent_p.P160P|FAM65A_uc002eth.2_Silent_p.P318P|FAM65A_uc010cej.2_Silent_p.P321P|FAM65A_uc002eti.1_Silent_p.P281P|FAM65A_uc010vjq.1_Silent_p.P332P|FAM65A_uc002etj.1_Silent_p.P317P|FAM65A_uc002etk.2_Silent_p.P317P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	322						cytoplasm	binding	p.T338S(1)		ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575891	67575891	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575891G>T	uc010vjp.1	+	13	1358	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	FAM65A_uc010cei.1_Missense_Mutation_p.R243M|FAM65A_uc002eth.2_Missense_Mutation_p.R401M|FAM65A_uc010cej.2_Missense_Mutation_p.R404M|FAM65A_uc002eti.1_Missense_Mutation_p.R364M|FAM65A_uc010vjq.1_Missense_Mutation_p.R415M|FAM65A_uc002etj.1_Missense_Mutation_p.R400M|FAM65A_uc002etk.2_Missense_Mutation_p.R400M	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	405						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693469	67693469	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67693469C>A	uc002etq.3	-	4	979	c.642G>T	c.(640-642)ACG>ACT	p.T214T	ACD_uc002etp.3_Silent_p.T211T|ACD_uc002etr.3_Silent_p.T211T|ACD_uc010vjt.1_Nonsense_Mutation_p.G234*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	214					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763897	67763897	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67763897G>A	uc002eud.2	-	8	1058	c.942C>T	c.(940-942)ACC>ACT	p.T314T	RANBP10_uc010ceo.2_Silent_p.T85T|RANBP10_uc010vju.1_Silent_p.T258T|RANBP10_uc010vjv.1_Silent_p.T197T|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	314	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67911221	67911221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67911221G>A	uc002eur.2	+	5	719	c.553G>A	c.(553-555)GCG>ACG	p.A185T	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.A117T|EDC4_uc010ces.1_Missense_Mutation_p.A28T|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	185	WD 1.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67915267	67915267	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67915267G>T	uc002eur.2	+	20	2902	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	EDC4_uc010cer.2_Missense_Mutation_p.K531N|EDC4_uc002eus.2_Missense_Mutation_p.K642N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	912					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
NRN1L	123904	broad.mit.edu	37	16	67919655	67919655	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67919655C>T	uc002euu.2	+	2	136	c.110C>T	c.(109-111)GCG>GTG	p.A37V	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	37						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)														---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67964403	67964403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67964403C>A	uc002euw.2	-	5	417	c.407G>T	c.(406-408)CGC>CTC	p.R136L		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)														---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67979673	67979673	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67979673C>T	uc002euz.2	-	21	2982	c.2841G>A	c.(2839-2841)GAG>GAA	p.E947E	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.E941E|SLC12A4_uc010vkh.1_Silent_p.E916E|SLC12A4_uc010vki.1_Silent_p.E941E|SLC12A4_uc010vkj.1_Silent_p.E949E|SLC12A4_uc002eva.2_Silent_p.E947E|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	947	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68014116	68014116	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68014116G>T	uc002evc.3	-	1	337	c.243C>A	c.(241-243)ACC>ACA	p.T81T	DPEP3_uc010cex.2_Silent_p.T81T	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	56					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)														---	---	---	---
ESRP2	80004	broad.mit.edu	37	16	68264194	68264194	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68264194G>C	uc010cfa.1	-	15	2307	c.2119C>G	c.(2119-2121)CTG>GTG	p.L707V	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.L697V	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	707					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1																OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338046	68338046	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68338046G>A	uc002evw.1	-	3	580	c.561C>T	c.(559-561)CGC>CGT	p.R187R		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	187					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373745	68373745	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68373745T>C	uc002evy.1	+	9	1077	c.801T>C	c.(799-801)TTT>TTC	p.F267F	PRMT7_uc002evx.1_Silent_p.F267F|PRMT7_uc010vlg.1_Silent_p.F217F|PRMT7_uc002evz.1_Silent_p.F113F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	267					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68397447	68397447	+	Missense_Mutation	SNP	G	A	A	rs75117374	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68397447G>A	uc002ewa.2	-	7	2083	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	SMPD3_uc010cfe.2_Missense_Mutation_p.T554M|SMPD3_uc010vlh.1_Missense_Mutation_p.T546M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	554	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)													---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68712677	68712677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68712677G>A	uc002ewf.2	+	6	1691	c.559G>A	c.(559-561)GCT>ACT	p.A187T	CDH3_uc010vli.1_Missense_Mutation_p.A132T	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	187	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68716321	68716321	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68716321T>C	uc002ewf.2	+	9	2245	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	CDH3_uc010vli.1_Silent_p.G316G	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH1	999	broad.mit.edu	37	16	68857436	68857436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68857436G>A	uc002ewg.1	+	13	2195	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A630T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	691	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69279604	69279604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69279604G>A	uc002ewu.2	+	2	700	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	227	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69334808	69334808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69334808G>A	uc002ewu.2	+	7	1624	c.1604G>A	c.(1603-1605)CGT>CAT	p.R535H	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	535	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
TERF2	7014	broad.mit.edu	37	16	69401102	69401102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69401102C>T	uc002exd.2	-	7	947	c.822G>A	c.(820-822)AGG>AGA	p.R274R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	274					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)																---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727557	69727557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69727557C>T	uc002exm.1	+	12	4983	c.3775C>T	c.(3775-3777)CAA>TAA	p.Q1259*	NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1277*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1276*|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1259	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70154527	70154527	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70154527G>T	uc002eyf.1	+	3	1089	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	44					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)														---	---	---	---
AARS	16	broad.mit.edu	37	16	70286780	70286780	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70286780G>A	uc002eyn.1	-	21	2861	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Silent_p.S763S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	917					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AARS	16	broad.mit.edu	37	16	70302259	70302259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70302259C>T	uc002eyn.1	-	8	1096	c.986G>A	c.(985-987)CGC>CAC	p.R329H	AARS_uc010vlu.1_Missense_Mutation_p.R159H	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	329			R -> H (in CMT2N).		alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
AARS	16	broad.mit.edu	37	16	70304204	70304204	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70304204G>A	uc002eyn.1	-	6	821	c.711C>T	c.(709-711)AGC>AGT	p.S237S	AARS_uc010vlu.1_Silent_p.S67S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	237					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
DDX19A	55308	broad.mit.edu	37	16	70350004	70350004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70350004G>A	uc002eys.2	+	4	422	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	DDX19B_uc010vly.1_Missense_Mutation_p.R98Q|DDX19B_uc010vlv.1_Missense_Mutation_p.R103Q|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyo.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyp.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR|uc002eyt.2_RNA	NM_007242	NP_009173	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	97	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)																---	---	---	---
ST3GAL2	6483	broad.mit.edu	37	16	70429011	70429011	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70429011G>T	uc002eyw.2	-	2	2515	c.407C>A	c.(406-408)CCT>CAT	p.P136H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P136H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	136	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
FUK	197258	broad.mit.edu	37	16	70503129	70503129	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70503129C>G	uc002eyy.2	+	10	916	c.858C>G	c.(856-858)CCC>CCG	p.P286P	FUK_uc010cft.2_Silent_p.P318P|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70588357	70588357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70588357G>A	uc002ezf.2	+	12	1622	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	471					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70590845	70590845	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70590845T>C	uc002ezf.2	+	15	2134	c.1923T>C	c.(1921-1923)TGT>TGC	p.C641C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	641					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70871608	70871608	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70871608C>A	uc002ezr.2	-	77	13352	c.13224G>T	c.(13222-13224)AAG>AAT	p.K4408N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4409										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70986455	70986455	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70986455T>A	uc002ezr.2	-	41	6525	c.6397A>T	c.(6397-6399)ACT>TCT	p.T2133S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2134										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71218785	71218785	+	Missense_Mutation	SNP	C	T	T	rs148583032		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71218785C>T	uc002ezr.2	-	3	372	c.244G>A	c.(244-246)GAA>AAA	p.E82K	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.E82K|HYDIN_uc010vmc.1_Missense_Mutation_p.E99K|HYDIN_uc010vmd.1_Missense_Mutation_p.E109K|HYDIN_uc002ezw.3_Missense_Mutation_p.E99K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	82								p.E82K(2)		ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
TAT	6898	broad.mit.edu	37	16	71605530	71605530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71605530A>G	uc002fap.2	-	7	837	c.738T>C	c.(736-738)GCT>GCC	p.A246A		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	246					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)													---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71663380	71663380	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71663380A>G	uc002fat.2	+	2	641	c.578A>G	c.(577-579)TAC>TGC	p.Y193C	MARVELD3_uc002fas.1_Missense_Mutation_p.Y193C|MARVELD3_uc002fau.2_Missense_Mutation_p.Y193C|MARVELD3_uc010cge.2_Missense_Mutation_p.T139A	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	193	MARVEL.|Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71683225	71683225	+	Silent	SNP	C	T	T	rs148712567	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71683225C>T	uc002fax.2	-	18	3546	c.3540G>A	c.(3538-3540)GAG>GAA	p.E1180E	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.E1113E	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1180						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HPR	3250	broad.mit.edu	37	16	72110871	72110871	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72110871C>T	uc002fby.2	+	5	968	c.938C>T	c.(937-939)GCG>GTG	p.A313V	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	313	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)																---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72131586	72131586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72131586T>C	uc002fcb.2	+	4	877	c.522T>C	c.(520-522)GAT>GAC	p.D174D	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	174					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72153953	72153953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72153953T>C	uc002fcc.3	-	20	2991	c.2819A>G	c.(2818-2820)GAA>GGA	p.E940G	PMFBP1_uc002fcd.2_Missense_Mutation_p.E935G|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E810G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	940	Potential.									ovary(2)	2		Ovarian(137;0.179)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821778	72821778	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72821778A>G	uc002fck.2	-	10	11070	c.10397T>C	c.(10396-10398)GTC>GCC	p.V3466A	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2552A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3466					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828653	72828653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72828653C>T	uc002fck.2	-	9	8601	c.7928G>A	c.(7927-7929)CGT>CAT	p.R2643H	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1729H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2643	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72830751	72830751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72830751C>T	uc002fck.2	-	9	6503	c.5830G>A	c.(5830-5832)GCC>ACC	p.A1944T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1030T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1944					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831787	72831787	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72831787A>G	uc002fck.2	-	9	5467	c.4794T>C	c.(4792-4794)TGT>TGC	p.C1598C	ZFHX3_uc002fcl.2_Silent_p.C684C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1598	C2H2-type 16.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72832395	72832395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72832395G>A	uc002fck.2	-	9	4859	c.4186C>T	c.(4186-4188)CGC>TGC	p.R1396C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R482C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72993166	72993166	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72993166G>T	uc002fck.2	-	2	1552	c.879C>A	c.(877-879)TAC>TAA	p.Y293*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	293	C2H2-type 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74334090	74334090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74334090C>T	uc002fcq.2	+	2	284	c.152C>T	c.(151-153)TCG>TTG	p.S51L	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	51	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0																		---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74503938	74503938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74503938A>G	uc002fcy.3	-	16	2313	c.2263T>C	c.(2263-2265)TTT>CTT	p.F755L	GLG1_uc002fcx.2_Missense_Mutation_p.F755L|GLG1_uc002fcw.3_Missense_Mutation_p.F744L|GLG1_uc002fcz.3_Missense_Mutation_p.F172L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	755	Cys-rich GLG1 11.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2																		---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74729205	74729205	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74729205G>A	uc002fdb.2	-	2	892	c.451C>T	c.(451-453)CTA>TTA	p.L151L	MLKL_uc002fdc.2_Silent_p.L151L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	151							ATP binding|protein binding|protein kinase activity			stomach(2)	2																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563326	75563326	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563326T>C	uc002fei.2	-	3	2352	c.957A>G	c.(955-957)CCA>CCG	p.P319P	CHST5_uc002fej.1_Silent_p.P325P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	319	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563832	75563832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563832G>A	uc002fei.2	-	3	1846	c.451C>T	c.(451-453)CTG>TTG	p.L151L	CHST5_uc002fej.1_Silent_p.L157L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	151	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
KARS	3735	broad.mit.edu	37	16	75675553	75675553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75675553C>T	uc002feq.2	-	2	179	c.131G>A	c.(130-132)AGT>AAT	p.S44N	KARS_uc002fer.2_Missense_Mutation_p.S72N|KARS_uc002fes.2_Translation_Start_Site|KARS_uc010cgz.2_5'Flank|KARS_uc010cha.1_Missense_Mutation_p.S81N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	44				Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)													---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76350303	76350303	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76350303C>A	uc002feu.1	+						CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002fex.1_Missense_Mutation_p.L30M|CNTNAP4_uc002few.2_Intron	NM_033401	NP_207837			cell recognition protein CASPR4 isoform 1						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77227572	77227572	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77227572C>T	uc002fez.2	+	3	703	c.373C>T	c.(373-375)CGG>TGG	p.R125W	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	125							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228320	77228320	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228320G>A	uc002fez.2	+	4	894	c.564G>A	c.(562-564)GGG>GGA	p.G188G	MON1B_uc010vnf.1_Silent_p.G79G|MON1B_uc010vng.1_Silent_p.G42G|MON1B_uc002ffa.2_Silent_p.G68G	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	188							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228534	77228534	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228534G>A	uc002fez.2	+	4	1108	c.778G>A	c.(778-780)GCA>ACA	p.A260T	MON1B_uc010vnf.1_Missense_Mutation_p.A151T|MON1B_uc010vng.1_Missense_Mutation_p.A114T|MON1B_uc002ffa.2_Missense_Mutation_p.A140T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	260							protein binding				0																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77369677	77369677	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77369677T>C	uc002ffc.3	-	12	2254	c.1835A>G	c.(1834-1836)CAG>CGG	p.Q612R	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q200R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q308R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	612	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77401590	77401590	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77401590A>T	uc002ffc.3	-	4	945	c.526T>A	c.(526-528)TTC>ATC	p.F176I	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	176					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466602	78466602	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:78466602G>A	uc002ffk.2	+	8	1134	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	WWOX_uc010vnk.1_Missense_Mutation_p.V224M|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	337	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)														---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80654839	80654839	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80654839G>A	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80667142	80667142	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80667142A>G	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80718775	80718775	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80718775T>C	uc002ffs.2	-	2	381	c.276A>G	c.(274-276)AGA>AGG	p.R92R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	92						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
C16orf61	56942	broad.mit.edu	37	16	81030908	81030908	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81030908T>C	uc002ffu.2	-						C16orf61_uc002ffv.2_Intron	NM_020188	NP_064573			hypothetical protein LOC56942												0																		---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81077197	81077197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81077197G>A	uc002ffz.1	+	4	1112	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATMIN_uc002fga.2_Missense_Mutation_p.S207N|ATMIN_uc010vnn.1_Missense_Mutation_p.S136N|ATMIN_uc002fgb.1_Missense_Mutation_p.S207N	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	365	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81097360	81097360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81097360C>T	uc002fgc.3	-	3	460	c.201G>A	c.(199-201)TGG>TGA	p.W67*	C16orf46_uc010chf.2_Nonsense_Mutation_p.W67*|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	67											0																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81211477	81211477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81211477A>G	uc002fgh.1	-	14	2372	c.2372T>C	c.(2371-2373)TTT>TCT	p.F791S	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.F106S|PKD1L2_uc002fgj.2_Missense_Mutation_p.F791S|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	791	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81733378	81733378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81733378C>T	uc002fgp.2	+	15	1799	c.1727C>T	c.(1726-1728)GCA>GTA	p.A576V	CMIP_uc002fgq.1_Missense_Mutation_p.A482V|CMIP_uc010vnq.1_Missense_Mutation_p.A389V|CMIP_uc002fgr.1_Missense_Mutation_p.A423V	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	542						cytoplasm|nucleus					0																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81891910	81891910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81891910A>G	uc002fgt.2	+	4	532	c.380A>G	c.(379-381)AAA>AGA	p.K127R	PLCG2_uc010chg.1_Missense_Mutation_p.K127R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	127	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83704437	83704437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83704437A>G	uc002fgx.2	+	9	1264	c.1144A>G	c.(1144-1146)AAT>GAT	p.N382D	CDH13_uc010vns.1_Missense_Mutation_p.N429D|CDH13_uc010vnt.1_Missense_Mutation_p.N128D|CDH13_uc010vnu.1_Missense_Mutation_p.N343D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	382	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83948723	83948723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83948723A>G	uc002fgz.2	+	5	1131	c.1111A>G	c.(1111-1113)ATT>GTT	p.I371V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	371					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0																		---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998695	83998695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83998695G>A	uc002fha.2	+	7	1149	c.766G>A	c.(766-768)GGG>AGG	p.G256R	OSGIN1_uc002fhb.2_Missense_Mutation_p.G173R|OSGIN1_uc002fhc.2_Missense_Mutation_p.G173R	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	256					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0																		---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050247	84050247	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84050247G>A	uc002fhg.1	-	8	1039	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	347					amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84101321	84101321	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84101321A>G	uc002fhi.2	-	16	2681	c.2179T>C	c.(2179-2181)TAC>CAC	p.Y727H	MBTPS1_uc002fhh.2_Missense_Mutation_p.Y231H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	727	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84103626	84103626	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84103626T>C	uc002fhi.2	-	14	2302	c.1800A>G	c.(1798-1800)GAA>GAG	p.E600E	MBTPS1_uc002fhh.2_Silent_p.E104E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	600	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84214743	84214743	+	Missense_Mutation	SNP	G	A	A	rs78476640	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84214743G>A	uc002fhn.2	-	11	1520	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	TAF1C_uc002fhm.2_Missense_Mutation_p.S338L|TAF1C_uc010vnx.1_Missense_Mutation_p.S405L|TAF1C_uc010vny.1_Missense_Mutation_p.S22L|TAF1C_uc010vnz.1_Missense_Mutation_p.S99L|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.S99L|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	431					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1																		---	---	---	---
WFDC1	58189	broad.mit.edu	37	16	84351925	84351925	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84351925G>T	uc002fhw.2	+	3	562	c.385G>T	c.(385-387)GGC>TGC	p.G129C	WFDC1_uc002fhv.2_Missense_Mutation_p.G129C	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	129					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1																		---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84474490	84474490	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84474490G>T	uc002fhx.2	+	14	1326	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	ATP2C2_uc010chj.2_Missense_Mutation_p.G413W|ATP2C2_uc002fhy.2_Missense_Mutation_p.G430W|ATP2C2_uc002fhz.2_Missense_Mutation_p.G262W	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	413	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
ZDHHC7	55625	broad.mit.edu	37	16	85024046	85024046	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85024046T>C	uc002fiq.2	-	3	532	c.179A>G	c.(178-180)TAT>TGT	p.Y60C	ZDHHC7_uc010voi.1_Missense_Mutation_p.Y60C|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	60	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86545019	86545019	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86546570	86546570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86546570A>C	uc002fjl.2	+	2	1062	c.1019A>C	c.(1018-1020)GAC>GCC	p.D340A		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	340					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86601011	86601011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86601011T>C	uc002fjq.2	+	1	155	c.70T>C	c.(70-72)TAC>CAC	p.Y24H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	24					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0														Late-onset_Hereditary_Lymphedema				---	---	---	---
FOXL1	2300	broad.mit.edu	37	16	86612547	86612547	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86612547A>G	uc002fjr.2	+	1	433	c.218A>G	c.(217-219)AAC>AGC	p.N73S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	73	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1																		---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87871474	87871474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87871474G>A	uc002fkm.2	-	7	1189	c.1117C>T	c.(1117-1119)CCC>TCC	p.P373S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	373					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)														---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88697554	88697554	+	Silent	SNP	G	A	A	rs142280171	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88697554G>A	uc002fky.2	+	18	2909	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ZC3H18_uc010voz.1_Silent_p.T927T|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Silent_p.T173T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	903						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88780044	88780044	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88780044G>A	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88902599	88902599	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88902599T>A	uc002fly.3	-						GALNS_uc010cid.2_Intron|GALNS_uc002flz.3_Intron	NM_000512	NP_000503			galactosamine (N-acetyl)-6-sulfate sulfatase							lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)													---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923569	88923569	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923569G>A	uc002fmc.2	+	1	64	c.11G>A	c.(10-12)TGC>TAC	p.C4Y	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fme.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	4					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923595	88923595	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923595C>A	uc002fmc.2	+						GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Intron|TRAPPC2L_uc002fme.3_Intron|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293			trafficking protein particle complex 2-like						ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294580	89294580	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89294580A>G	uc002fmv.2	+	6	2139	c.1800A>G	c.(1798-1800)ACA>ACG	p.T600T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T558T|ZNF778_uc010vpg.1_Silent_p.T363T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	600	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)														---	---	---	---
SPATA2L	124044	broad.mit.edu	37	16	89764596	89764596	+	Missense_Mutation	SNP	C	A	A	rs35826409	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89764596C>A	uc002foj.2	-	3	486	c.421G>T	c.(421-423)GCC>TCC	p.A141S	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	141											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89776229	89776229	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89776229T>C	uc002fom.1	-	11	1469	c.1344A>G	c.(1342-1344)GAA>GAG	p.E448E	C16orf7_uc002fol.1_Silent_p.E378E|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	448					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89783004	89783004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89783004A>G	uc002fom.1	-	4	422	c.297T>C	c.(295-297)CCT>CCC	p.P99P	C16orf7_uc002fol.1_Silent_p.P29P|uc002fon.1_RNA|uc002foo.1_5'UTR	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	99					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89836392	89836392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89836392G>A	uc002fou.1	-	26	2399	c.2357C>T	c.(2356-2358)GCC>GTC	p.A786V	FANCA_uc010vpn.1_Missense_Mutation_p.A786V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	786					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)				D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89977618	89977618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89977618A>G	uc002fpb.2	+	18	2085	c.2003A>G	c.(2002-2004)GAC>GGC	p.D668G	TCF25_uc002fpc.2_Silent_p.R472R|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	668					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)														---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90029779	90029779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90029779C>A	uc002fpn.1	+	10	1202	c.1113C>A	c.(1111-1113)CGC>CGA	p.R371R	DEF8_uc002fpo.1_Silent_p.R310R|DEF8_uc002fpp.1_Silent_p.R300R|DEF8_uc010vpq.1_Silent_p.R250R|DEF8_uc010vpr.1_Silent_p.R310R|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	371					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)														---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90099232	90099232	+	Missense_Mutation	SNP	G	A	A	rs145845004		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90099232G>A	uc002fqi.1	+	4	517	c.395G>A	c.(394-396)CGC>CAC	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)														---	---	---	---
RPH3AL	9501	broad.mit.edu	37	17	177323	177323	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:177323G>A	uc002frd.1	-	1	56	c.12C>T	c.(10-12)ACC>ACT	p.T4T	RPH3AL_uc010vpy.1_Silent_p.T4T|RPH3AL_uc002fre.1_Silent_p.T4T|RPH3AL_uc002frf.1_Silent_p.T4T|RPH3AL_uc010cjl.1_Silent_p.T4T	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	4					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)														---	---	---	---
VPS53	55275	broad.mit.edu	37	17	534801	534801	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:534801G>A	uc002frn.2	-	8	823	c.676C>T	c.(676-678)CAG>TAG	p.Q226*	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q226*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q197*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q28*|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	226					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	663486	663486	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:663486A>C	uc002frv.2	-						GLOD4_uc002frt.2_Intron|GLOD4_uc002fru.2_Intron|GLOD4_uc010vqc.1_Intron	NM_016080	NP_057164			glyoxalase domain containing 4							mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
NXN	64359	broad.mit.edu	37	17	704358	704358	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:704358T>A	uc002fsa.2	-	8	1231	c.1139A>T	c.(1138-1140)GAC>GTC	p.D380V	NXN_uc010vqd.1_Missense_Mutation_p.D71V|NXN_uc002frz.2_Missense_Mutation_p.D131V|NXN_uc010vqe.1_Missense_Mutation_p.D272V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	380					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)														---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	902817	902817	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:902817T>G	uc002fsc.2	+	3	527	c.501T>G	c.(499-501)GGT>GGG	p.G167G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	167				IG -> YW (in Ref. 1; AAD40106).	transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914003	914003	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914003C>T	uc002fsd.2	-	20	2312	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	ABR_uc002fse.2_Silent_p.T688T|ABR_uc010vqf.1_Silent_p.T185T|ABR_uc010vqg.1_Silent_p.T516T|ABR_uc002fsg.2_Silent_p.T697T|ABR_uc002fsh.1_Silent_p.T342T|ABR_uc002fsf.2_Silent_p.T271T	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	734	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914062	914062	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914062T>C	uc002fsd.2	-	20	2253	c.2143A>G	c.(2143-2145)AAC>GAC	p.N715D	ABR_uc002fse.2_Missense_Mutation_p.N669D|ABR_uc010vqf.1_Missense_Mutation_p.N166D|ABR_uc010vqg.1_Missense_Mutation_p.N497D|ABR_uc002fsg.2_Missense_Mutation_p.N678D|ABR_uc002fsh.1_Missense_Mutation_p.N323D|ABR_uc002fsf.2_Missense_Mutation_p.N252D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	953410	953410	+	Silent	SNP	G	A	A	rs141242979	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:953410G>A	uc002fsd.2	-	16	1781	c.1671C>T	c.(1669-1671)ATC>ATT	p.I557I	ABR_uc002fse.2_Silent_p.I511I|ABR_uc010vqg.1_Silent_p.I339I|ABR_uc002fsg.2_Silent_p.I520I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	557	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1576438	1576438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1576438C>T	uc002fte.2	-	24	3825	c.3711G>A	c.(3709-3711)ATG>ATA	p.M1237I		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1237						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1579343	1579343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1579343T>C	uc002fte.2	-	18	2672	c.2558A>G	c.(2557-2559)AAG>AGG	p.K853R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	853						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1634045	1634045	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1634045G>A	uc002fti.2	+						WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002ftj.2_Intron|WDR81_uc010vqq.1_Intron	NM_001163811	NP_001157283			WD repeat domain 81 isoform 4											skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1640894	1640894	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1640894G>A	uc002fti.2	+	10	2321	c.2060G>A	c.(2059-2061)GGC>GAC	p.G687D	WDR81_uc002fth.2_Missense_Mutation_p.G863D|WDR81_uc010vqp.1_Missense_Mutation_p.G711D|WDR81_uc002ftj.2_Missense_Mutation_p.G1914D|WDR81_uc010vqq.1_Missense_Mutation_p.G545D	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	687										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1686415	1686415	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1686415A>G	uc002ftm.3	-	10	2343	c.2175T>C	c.(2173-2175)AGT>AGC	p.S725S	SMYD4_uc002ftn.1_Silent_p.S580S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	725							zinc ion binding			skin(3)|kidney(2)	5																		---	---	---	---
METT10D	79066	broad.mit.edu	37	17	2323876	2323876	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2323876T>C	uc002fut.2	-	10	1225	c.1077A>G	c.(1075-1077)CGA>CGG	p.R359R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R141R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	359							methyltransferase activity				0																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604436	2604436	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604436T>C	uc002fuy.1	-	7	995	c.909A>G	c.(907-909)AAA>AAG	p.K303K	KIAA0664_uc002fux.1_Silent_p.K235K	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	303							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604780	2604780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604780C>T	uc002fuy.1	-	6	751	c.665G>A	c.(664-666)GGA>GAA	p.G222E	KIAA0664_uc002fux.1_Missense_Mutation_p.G154E	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	222							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2605316	2605316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2605316G>A	uc002fuy.1	-	4	483	c.397C>T	c.(397-399)CGC>TGC	p.R133C	KIAA0664_uc002fux.1_Missense_Mutation_p.R65C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	133							binding			breast(2)	2																		---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2867364	2867364	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2867364T>C	uc010ckd.2	+	7	582	c.492_splice	c.e7+2	p.K164_splice	RAP1GAP2_uc010cke.2_Splice_Site_p.K149_splice	NM_015085	NP_055900			RAP1 GTPase activating protein 2 isoform 1						regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1																		---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195465	3195465	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3195465G>A	uc002fvh.1	-	1	412	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3																		---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3417315	3417315	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3417315A>T	uc002fvt.1	-						SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_Intron|TRPV3_uc010vrh.1_Intron|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Intron|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Intron|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Intron	NM_145068	NP_659505			transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3483809	3483809	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3483809G>T	uc010vrr.1	-	9	2016	c.1489C>A	c.(1489-1491)CTG>ATG	p.L497M	TRPV1_uc010vro.1_Missense_Mutation_p.L508M|TRPV1_uc010vrp.1_Missense_Mutation_p.L437M|TRPV1_uc010vrq.1_Missense_Mutation_p.L495M|TRPV1_uc010vrs.1_Missense_Mutation_p.L497M|TRPV1_uc010vrt.1_Missense_Mutation_p.L497M|TRPV1_uc010vru.1_Missense_Mutation_p.L497M	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	497	Helical; (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3494585	3494585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3494585C>T	uc010vrr.1	-	2	874	c.347G>A	c.(346-348)AGG>AAG	p.R116K	TRPV1_uc010vro.1_Missense_Mutation_p.R116K|TRPV1_uc010vrp.1_Missense_Mutation_p.R116K|TRPV1_uc010vrq.1_Missense_Mutation_p.G91R|TRPV1_uc010vrs.1_Missense_Mutation_p.R116K|TRPV1_uc010vrt.1_Missense_Mutation_p.R116K|TRPV1_uc010vru.1_Missense_Mutation_p.R116K	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	116	Cytoplasmic (Potential).|ANK 1.				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
P2RX5	5026	broad.mit.edu	37	17	3599262	3599262	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3599262A>C	uc002fwi.2	-	1	322	c.38T>G	c.(37-39)CTG>CGG	p.L13R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.L13R|P2RX5_uc002fwj.2_Missense_Mutation_p.L13R|P2RX5_uc002fwk.2_Missense_Mutation_p.L13R|P2RX5_uc002fwl.2_Missense_Mutation_p.L13R|P2RX5_uc002fwm.1_Missense_Mutation_p.L13R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	13	Cytoplasmic (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0																		---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3660314	3660314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3660314G>A	uc002fwo.3	-	10	1234	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	379	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)														---	---	---	---
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3779601G>A	uc002fwt.2	-	10	1006	c.912C>T	c.(910-912)GAC>GAT	p.D304D	CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)														---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4020355	4020355	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4020355T>C	uc002fxe.2	-	3	669	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	ZZEF1_uc002fxk.1_Missense_Mutation_p.Y202C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	202							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
SPNS2	124976	broad.mit.edu	37	17	4436605	4436605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4436605C>T	uc002fxx.2	+	8	1370	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	386					lipid transport|transmembrane transport	integral to membrane					0																		---	---	---	---
GGT6	124975	broad.mit.edu	37	17	4463748	4463748	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4463748C>A	uc002fyd.3	-	1	129	c.69G>T	c.(67-69)GAG>GAT	p.E23D	GGT6_uc010vsb.1_5'Flank|GGT6_uc002fyc.3_Missense_Mutation_p.E23D|GGT6_uc010vsc.1_Missense_Mutation_p.E23D	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	23	Cytoplasmic (Potential).|Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1																		---	---	---	---
CXCL16	58191	broad.mit.edu	37	17	4641712	4641712	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4641712C>T	uc002fyr.3	-	3	881	c.349G>A	c.(349-351)GAT>AAT	p.D117N	CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Missense_Mutation_p.D117N|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	98	Extracellular (Potential).|Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0																		---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647966	4647966	+	Missense_Mutation	SNP	G	A	A	rs138988876		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4647966G>A	uc002fyt.2	+	10	1652	c.1613G>A	c.(1612-1614)CGG>CAG	p.R538Q	ZMYND15_uc002fyv.2_Missense_Mutation_p.R577Q|ZMYND15_uc002fyu.2_Missense_Mutation_p.R577Q	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	538							zinc ion binding				0																		---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4711687	4711687	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4711687T>C	uc002fzc.2	+	4	460	c.359T>C	c.(358-360)TTG>TCG	p.L120S	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.L120S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	120	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4721823	4721823	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4721823C>T	uc002fzc.2	+	20	2145	c.2044C>T	c.(2044-2046)CCC>TCC	p.P682S	PLD2_uc002fzd.2_Missense_Mutation_p.P682S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	682	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4722429	4722429	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4722429G>T	uc002fzc.2	+	22	2325	c.2224G>T	c.(2224-2226)GGA>TGA	p.G742*	PLD2_uc002fzd.2_Nonsense_Mutation_p.G742*	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	742	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
MINK1	50488	broad.mit.edu	37	17	4796870	4796870	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4796870A>C	uc010vsl.1	+	21	2738	c.2542A>C	c.(2542-2544)AGC>CGC	p.S848R	MINK1_uc010vsk.1_Missense_Mutation_p.S819R|MINK1_uc010vsm.1_Missense_Mutation_p.S828R|MINK1_uc010vsn.1_Missense_Mutation_p.S811R|MINK1_uc010vso.1_Missense_Mutation_p.S756R|MINK1_uc010vsp.1_Missense_Mutation_p.S309R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	848					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
C17orf107	100130311	broad.mit.edu	37	17	4804281	4804281	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4804281T>C	uc002fzl.3	+	3					CHRNE_uc002fzk.1_Intron	NM_001145536	NP_001139008			hypothetical protein LOC100130311												0																		---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4848061	4848061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4848061G>A	uc002fzq.2	+	11	1219	c.803G>A	c.(802-804)TGC>TAC	p.C268Y	RNF167_uc002fzr.2_Missense_Mutation_p.C268Y|RNF167_uc002fzs.2_Missense_Mutation_p.C268Y|RNF167_uc002fzt.2_Missense_Mutation_p.C268Y|RNF167_uc002fzu.2_Missense_Mutation_p.C267Y|RNF167_uc002fzv.2_Missense_Mutation_p.C233Y|RNF167_uc002fzx.2_Missense_Mutation_p.C232Y|RNF167_uc002fzy.2_Missense_Mutation_p.C67Y	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	268	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4905895	4905895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4905895A>G	uc002gan.1	+	7	892	c.566A>G	c.(565-567)TAC>TGC	p.Y189C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	189	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2																		---	---	---	---
GPR172B	55065	broad.mit.edu	37	17	4937093	4937093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4937093G>A	uc002gap.3	-	3	1404	c.691C>T	c.(691-693)CCT>TCT	p.P231S	GPR172B_uc002gao.3_Missense_Mutation_p.P231S|GPR172B_uc010ckw.2_Missense_Mutation_p.P109S|GPR172B_uc010ckx.2_Missense_Mutation_p.P231S	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	231						integral to plasma membrane	receptor activity|riboflavin transporter activity				0																		---	---	---	---
USP6	9098	broad.mit.edu	37	17	5039162	5039162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5039162T>C	uc002gau.1	+	17	2833	c.603T>C	c.(601-603)CCT>CCC	p.P201P	USP6_uc002gav.1_Silent_p.P201P|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	201	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5041418	5041418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5041418C>T	uc002gau.1	+	21	3158	c.928C>T	c.(928-930)CGC>TGC	p.R310C	USP6_uc002gav.1_Missense_Mutation_p.R310C|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	310					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5071427	5071427	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5071427C>T	uc002gau.1	+						USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron	NM_004505	NP_004496			ubiquitin specific protease 6						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085839	5085839	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5085839A>G	uc010cla.1	-	2	1869	c.1713T>C	c.(1711-1713)AAT>AAC	p.N571N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	571	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5276735	5276735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5276735C>A	uc002gbm.3	+	13	2235	c.2011C>A	c.(2011-2013)CCA>ACA	p.P671T	RABEP1_uc010clc.1_Missense_Mutation_p.P664T|RABEP1_uc010cld.1_Missense_Mutation_p.P628T|RABEP1_uc010vsw.1_Missense_Mutation_p.P628T|RABEP1_uc002gbl.3_Missense_Mutation_p.P671T|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	671	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
C1QBP	708	broad.mit.edu	37	17	5338255	5338255	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5338255T>C	uc002gby.1	-	3	493	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	139					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1																		---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5436169	5436169	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5436169A>G	uc002gci.2	-	11	3824	c.3269T>C	c.(3268-3270)GTA>GCA	p.V1090A	NLRP1_uc002gcg.1_Missense_Mutation_p.V1094A|NLRP1_uc002gck.2_Missense_Mutation_p.V1090A|NLRP1_uc002gcj.2_Missense_Mutation_p.V1060A|NLRP1_uc002gcl.2_Missense_Mutation_p.V1060A|NLRP1_uc002gch.3_Missense_Mutation_p.V1090A|NLRP1_uc010clh.2_Missense_Mutation_p.V1090A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1090					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)																---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5984004	5984004	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5984004A>G	uc010cli.2	+	2	405	c.26A>G	c.(25-27)CAG>CGG	p.Q9R	WSCD1_uc002gcn.2_Missense_Mutation_p.Q9R|WSCD1_uc002gco.2_Missense_Mutation_p.Q9R|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	9						integral to membrane	sulfotransferase activity				0																		---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021338	6021338	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6021338G>A	uc010cli.2	+	8	1584	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	WSCD1_uc002gcn.2_Missense_Mutation_p.S402N|WSCD1_uc002gco.2_Missense_Mutation_p.S402N|WSCD1_uc010clj.2_Missense_Mutation_p.S93N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity				0																		---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6329092	6329092	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6329092G>A	uc002gcp.2	-	6	938	c.843C>T	c.(841-843)GCC>GCT	p.A281A	AIPL1_uc002gcq.2_Silent_p.A221A|AIPL1_uc002gcr.2_Silent_p.A218A|AIPL1_uc010clk.2_Silent_p.A259A|AIPL1_uc010cll.2_Silent_p.A257A|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	281	TPR 3.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)														---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6377778	6377778	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6377778C>T	uc002gdd.3	-	10	1383	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	PITPNM3_uc010cln.2_Missense_Mutation_p.R375Q|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Missense_Mutation_p.R2Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	411	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)														---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6483063	6483063	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6483063G>A	uc002gde.3	-	19					KIAA0753_uc010vtd.1_3'UTR|KIAA0753_uc010clo.2_3'UTR|KIAA0753_uc010vte.1_3'UTR	NM_014804	NP_055619			hypothetical protein LOC9851							centrosome					0				COAD - Colon adenocarcinoma(228;0.157)														---	---	---	---
FBXO39	162517	broad.mit.edu	37	17	6683582	6683582	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6683582A>G	uc010vtg.1	+	2	515	c.395A>G	c.(394-396)CAA>CGA	p.Q132R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	132										ovary(1)|skin(1)	2																		---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6909216	6909216	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6909216C>A	uc002gdx.3	+	10	1341	c.1288C>A	c.(1288-1290)CGT>AGT	p.R430S	uc002gdy.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	430	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
RNASEK	440400	broad.mit.edu	37	17	6916011	6916011	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6916011G>T	uc002gea.2	+	1	214	c.9G>T	c.(7-9)TCG>TCT	p.S3S	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank	NM_001004333	NP_001004333	Q6P5S7	RNK_HUMAN	ribonuclease kappa	3					rRNA transcription	integral to membrane	endoribonuclease activity				0																		---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927709	6927709	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6927709A>G	uc002geg.2	+						BCL6B_uc010clt.1_Intron	NM_181844	NP_862827			B-cell CLL/lymphoma 6, member B (zinc finger							nucleus	zinc ion binding			skin(1)	1																		---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7229645	7229645	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7229645C>T	uc002gga.1	-	6	1229	c.1222G>A	c.(1222-1224)GGC>AGC	p.G408S	NEURL4_uc002ggb.1_Missense_Mutation_p.G408S|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	408	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7351977	7351977	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7351977A>T	uc002ghb.2	+	7	731	c.690A>T	c.(688-690)GGA>GGT	p.G230G	CHRNB1_uc010vty.1_Silent_p.G158G|CHRNB1_uc010vtz.1_Silent_p.G64G	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	230	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)																---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7468286	7468286	+	Translation_Start_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7468286C>T	uc002gho.1	+	1	11	c.-1314C>T	c.(-1316--1312)GACGA>GATGA		SENP3_uc002ghm.2_Silent_p.D322D|SENP3_uc002ghn.1_Silent_p.D157D	NM_001416	NP_001407			eukaryotic translation initiation factor 4A						nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7604986	7604986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7604986G>A	uc010vuh.1	+	7	989	c.834G>A	c.(832-834)ACG>ACA	p.T278T	WRAP53_uc010vui.1_Silent_p.T278T|WRAP53_uc002gip.2_Silent_p.T278T|WRAP53_uc002gir.2_Silent_p.T278T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T245T|WRAP53_uc010vuj.1_Silent_p.T59T	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	278	WD 3.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0																		---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7710589	7710589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7710589C>T	uc002giu.1	+	61	9578	c.9564C>T	c.(9562-9564)CGC>CGT	p.R3188R	DNAH2_uc010cnm.1_Silent_p.R126R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3188	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727218	7727218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727218G>A	uc002giu.1	+	74	11410	c.11396G>A	c.(11395-11397)CGC>CAC	p.R3799H	DNAH2_uc010cnm.1_Missense_Mutation_p.R737H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3799					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727556	7727556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727556G>A	uc002giu.1	+	75	11610	c.11596G>A	c.(11596-11598)GCC>ACC	p.A3866T	DNAH2_uc010cnm.1_Missense_Mutation_p.A804T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3866	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7734400	7734400	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7734400C>T	uc002giu.1	+						DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7736077	7736077	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7736077A>C	uc002giu.1	+							NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7814196	7814196	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7814196C>T	uc002gje.2	+	39	5936	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CHD3_uc002gjd.2_Missense_Mutation_p.P1988L|CHD3_uc002gjf.2_Missense_Mutation_p.P1895L|CHD3_uc002gjh.2_Missense_Mutation_p.P506L|CHD3_uc002gjj.2_Missense_Mutation_p.P92L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1929	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7842846	7842846	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7842846G>T	uc002gjq.2	+	9	1862	c.943G>T	c.(943-945)GCT>TCT	p.A315S	CNTROB_uc002gjp.2_Missense_Mutation_p.A315S|CNTROB_uc002gjr.2_Missense_Mutation_p.A217S|CNTROB_uc010vum.1_Missense_Mutation_p.A27S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	315	Potential.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7906918	7906918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7906918G>A	uc002gjt.2	+	2	627	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	185	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7907379	7907379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7907379C>T	uc002gjt.2	+	3	1005	c.931C>T	c.(931-933)CTC>TTC	p.L311F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	311	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
ALOX15B	247	broad.mit.edu	37	17	7951813	7951813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7951813G>A	uc002gju.2	+	14	2077	c.1961G>A	c.(1960-1962)CGG>CAG	p.R654Q	ALOX15B_uc002gjv.2_Missense_Mutation_p.R625Q|ALOX15B_uc002gjw.2_Missense_Mutation_p.R580Q|ALOX15B_uc010vun.1_Missense_Mutation_p.R642Q|ALOX15B_uc010cnp.2_Missense_Mutation_p.R460Q	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	654	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1																		---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8167098	8167098	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8167098G>A	uc002gkr.2	+	15	1776	c.1635G>A	c.(1633-1635)GGG>GGA	p.G545G	PFAS_uc010vuv.1_Silent_p.G121G|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	545					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8168393	8168393	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8168393G>A	uc002gkr.2	+	18	2371	c.2230G>A	c.(2230-2232)GTG>ATG	p.V744M	PFAS_uc010vuv.1_Missense_Mutation_p.V320M|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	744					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215626	8215626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8215626C>T	uc002glc.2	+	2	390	c.269C>T	c.(268-270)TCC>TTC	p.S90F	ARHGEF15_uc002glb.1_Missense_Mutation_p.S90F|ARHGEF15_uc002gld.2_Missense_Mutation_p.S90F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S90F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	90	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8422252	8422252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8422252G>A	uc002gll.2	-	18	2293	c.2197C>T	c.(2197-2199)CCA>TCA	p.P733S	MYH10_uc002glm.2_Missense_Mutation_p.P764S|MYH10_uc010cnx.2_Missense_Mutation_p.P742S	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	733	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
USP43	124739	broad.mit.edu	37	17	9586272	9586272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9586272G>A	uc010cod.2	+	7	1238	c.1238G>A	c.(1237-1239)AGC>AAC	p.S413N	USP43_uc002gma.3_Missense_Mutation_p.S102N|USP43_uc010vva.1_Missense_Mutation_p.S413N|USP43_uc010coe.2_Missense_Mutation_p.S210N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10219346	10219346	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10219346T>C	uc002gmk.1	-							NM_003802	NP_003793			myosin, heavy polypeptide 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10227392	10227392	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10227392G>T	uc002gmk.1	-	23	2971	c.2881C>A	c.(2881-2883)CTG>ATG	p.L961M	MYH13_uc010vve.1_Missense_Mutation_p.L59M	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	961	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10261071	10261071	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10261071T>C	uc002gmk.1	-	8	809	c.719A>G	c.(718-720)AAT>AGT	p.N240S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	240	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10322295	10322295	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10322295T>C	uc002gmm.2	-	4	358	c.263A>G	c.(262-264)GAC>GGC	p.D88G	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	88	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10323492	10323492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10323492T>C	uc002gmm.2	-	3	148	c.53A>G	c.(52-54)TAC>TGC	p.Y18C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	18	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10358102	10358102	+	Missense_Mutation	SNP	T	A	A	rs112990048		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10358102T>A	uc002gmn.2	-	22	2572	c.2461A>T	c.(2461-2463)AAC>TAC	p.N821Y	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	821					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10398373	10398373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10398373C>T	uc002gmo.2	-	37	5435	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1781	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10402051	10402051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10402051T>C	uc002gmo.2	-	30	4167	c.4073A>G	c.(4072-4074)AAG>AGG	p.K1358R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1358	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446487	10446487	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10446487A>G	uc010coi.2	-						uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582			myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10448771	10448771	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10448771G>T	uc010coi.2	-	5	525	c.397C>A	c.(397-399)CCT>ACT	p.P133T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P133T|MYH2_uc010coj.2_Missense_Mutation_p.P133T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	133	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10535851	10535851	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10535851G>T	uc002gmq.1	-	33	4975	c.4898C>A	c.(4897-4899)GCC>GAC	p.A1633D		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1633	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10539158	10539158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10539158C>T	uc002gmq.1	-	28	3946	c.3869G>A	c.(3868-3870)CGT>CAT	p.R1290H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1290	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
PIRT	644139	broad.mit.edu	37	17	10728777	10728777	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10728777G>A	uc010col.2	-	2	481	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of	62	Helical; (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11554567	11554567	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11554567T>C	uc002gne.2	+	13	2347	c.2279T>C	c.(2278-2280)TTA>TCA	p.L760S	DNAH9_uc010coo.2_Missense_Mutation_p.L54S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	760	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572398	11572398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11572398A>G	uc002gne.2	+	16	2817	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	DNAH9_uc010coo.2_Missense_Mutation_p.T211A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	917	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
HS3ST3B1	9953	broad.mit.edu	37	17	14204913	14204913	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14204913G>A	uc002goh.1	+	1	408	c.78G>A	c.(76-78)CCG>CCA	p.P26P	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	26	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	14683188	14683188	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14683188A>G								HS3ST3B1 (433696 upstream) : PMP22 (449909 downstream)																																			---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15539514	15539514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15539514C>T	uc002gox.2	-	6	1242	c.685G>A	c.(685-687)GCC>ACC	p.A229T	TRIM16_uc002gor.1_Missense_Mutation_p.A229T|TRIM16_uc002gow.2_Missense_Mutation_p.A13T|TRIM16_uc002goy.2_Missense_Mutation_p.A99T	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	229					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)														---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15906111	15906111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15906111C>T	uc002gph.1	+	4	809	c.791C>T	c.(790-792)GCC>GTC	p.A264V	TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	143	TPR 1.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16022749	16022749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16022749C>T	uc002gpo.2	-	17	2143	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	NCOR1_uc002gpn.2_Missense_Mutation_p.V635I|NCOR1_uc002gpp.1_Missense_Mutation_p.V526I|NCOR1_uc002gpr.2_Missense_Mutation_p.V526I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	635	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16024445	16024445	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16024445G>A	uc002gpo.2	-	16	2013	c.1773C>T	c.(1771-1773)AAC>AAT	p.N591N	NCOR1_uc002gpn.2_Silent_p.N591N|NCOR1_uc002gpp.1_Silent_p.N482N|NCOR1_uc002gpr.2_Silent_p.N482N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	591					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16075115	16075115	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16075115A>G	uc002gpo.2	-	4	675	c.435_splice	c.e4+1	p.K145_splice	NCOR1_uc002gpn.2_Splice_Site_p.K145_splice|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Splice_Site_p.K145_splice|NCOR1_uc010coz.1_Splice_Site|NCOR1_uc010cpb.1_Splice_Site_p.K145_splice|NCOR1_uc010cpa.1_Splice_Site_p.K145_splice|NCOR1_uc002gpu.2_Splice_Site_p.K145_splice	NM_006311	NP_006302			nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
CENPV	201161	broad.mit.edu	37	17	16246220	16246220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16246220G>A	uc002gpw.2	-	5	792	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_181716	NP_859067	Q7Z7K6	CENPV_HUMAN	proline rich 6	247					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity				0																		---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335120	16335120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16335120G>A	uc002gpy.2	+	11	1977	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	TRPV2_uc002gpz.2_Missense_Mutation_p.R107H	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	537	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16527781	16527781	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16527781T>G	uc010cpi.1	-	6	502	c.419A>C	c.(418-420)AAG>ACG	p.K140T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16612506	16612506	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16612506C>T	uc002gqk.1	+	5	1211	c.1135C>T	c.(1135-1137)CCA>TCA	p.P379S	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	379											0																		---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17057612	17057612	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17057612C>A	uc002gqu.1	+						MPRIP_uc002gqv.1_Intron|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431			myosin phosphatase-Rho interacting protein							cytoplasm|cytoskeleton	actin binding				0																		---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17179427	17179427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17179427G>A	uc002grd.2	-	2	198	c.107C>T	c.(106-108)GCG>GTG	p.A36V	COPS3_uc010vwv.1_Missense_Mutation_p.A16V|COPS3_uc010vww.1_5'UTR	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	36					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1																		---	---	---	---
PEMT	10400	broad.mit.edu	37	17	17412796	17412796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17412796T>C	uc002grj.2	-	5	486	c.419A>G	c.(418-420)AAC>AGC	p.N140S	PEMT_uc002grk.2_Missense_Mutation_p.N140S|PEMT_uc002grl.2_Missense_Mutation_p.N177S|PEMT_uc010vwx.1_Missense_Mutation_p.N177S	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	140					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)														---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17721053	17721053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17721053C>T	uc002gru.1	-	7	1555	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	SREBF1_uc002grp.1_Missense_Mutation_p.A24T|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.G200D|SREBF1_uc002grs.1_Missense_Mutation_p.G430D|SREBF1_uc002grt.1_Missense_Mutation_p.G484D|SREBF1_uc010cpp.1_Missense_Mutation_p.G430D|SREBF1_uc010cpq.1_Missense_Mutation_p.G454D	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	454	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1																		---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17887240	17887240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17887240G>A	uc010vxd.1	+	5	638	c.259G>A	c.(259-261)GCA>ACA	p.A87T	LRRC48_uc002gsa.2_Missense_Mutation_p.A87T|LRRC48_uc010vxc.1_Missense_Mutation_p.A87T|LRRC48_uc002gsb.2_Missense_Mutation_p.A87T	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	87	LRR 2.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)																	---	---	---	---
DRG2	1819	broad.mit.edu	37	17	17997252	17997252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17997252C>T	uc002gsh.1	+	2	245	c.190C>T	c.(190-192)CGT>TGT	p.R64C	DRG2_uc010vxg.1_Missense_Mutation_p.R64C|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R64C	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	64					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023508	18023508	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18023508A>G	uc010vxh.1	+	2	1732	c.1394A>G	c.(1393-1395)AAG>AGG	p.K465R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	465	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18039118	18039118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18039118G>A	uc010vxh.1	+	12	4914	c.4576G>A	c.(4576-4578)GCC>ACC	p.A1526T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18082167	18082167	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18082167G>A	uc010vxh.1	+	65	10914	c.10576G>A	c.(10576-10578)GAG>AAG	p.E3526K	uc002gsn.2_Intron|MYO15A_uc010vxi.1_3'UTR|MYO15A_uc002gsl.2_3'UTR|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3526	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18143909	18143909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18143909A>G	uc002gsp.2	+	17	2285	c.2224A>G	c.(2224-2226)ACC>GCC	p.T742A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	742	WD 11.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)																	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18188810	18188810	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18188810T>C	uc002gsx.1	-	14	1851	c.1622A>G	c.(1621-1623)CAC>CGC	p.H541R	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Missense_Mutation_p.H71R|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.H439R	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	541					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18205934	18205934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18205934G>A	uc002gsx.1	-	6	832	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	201					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18233876	18233876	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18233876G>A	uc002gta.2	-	10	1354	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	SHMT1_uc002gsz.2_Silent_p.T163T|SHMT1_uc002gtb.2_Silent_p.T349T|SHMT1_uc010cqb.2_Silent_p.T388T|SHMT1_uc010vxt.1_Silent_p.T250T	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638407	18638407	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18638407C>T	uc002gug.1	+	10	1368	c.681C>T	c.(679-681)GGC>GGT	p.G227G	TRIM16L_uc010vyf.1_Silent_p.G281G|TRIM16L_uc002guh.1_Silent_p.G227G|TRIM16L_uc010cqg.1_Silent_p.G329G|TRIM16L_uc002gui.1_Silent_p.G227G|TRIM16L_uc010vyg.1_Silent_p.G227G|TRIM16L_uc010vyh.1_Missense_Mutation_p.A140V	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	227	B30.2/SPRY.					cytoplasm					0																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874741	18874741	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874741G>A	uc002guw.2	-	6	2570	c.2403C>T	c.(2401-2403)GGC>GGT	p.G801G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874742	18874742	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874742C>T	uc002guw.2	-	6	2569	c.2402G>A	c.(2401-2403)GGC>GAC	p.G801D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18881506	18881506	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18881506G>A	uc002guw.2	-	5	1640	c.1473C>T	c.(1471-1473)AAC>AAT	p.N491N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	491	Pro-rich.									ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19237382	19237382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19237382C>T	uc002gvd.3	+	11	2189	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S	EPN2_uc002gve.3_Missense_Mutation_p.P524S|EPN2_uc002gvf.3_Missense_Mutation_p.P296S|EPN2_uc010vyo.1_Missense_Mutation_p.P289S|EPN2_uc010vyp.1_Missense_Mutation_p.P517S|EPN2_uc010vyq.1_Missense_Mutation_p.P518S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Intron	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	581	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284296	19284296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284296G>A	uc002gvn.2	+	4	1160	c.774G>A	c.(772-774)CGG>CGA	p.R258R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R119R|MAPK7_uc002gvq.2_Silent_p.R258R|MAPK7_uc002gvp.2_Silent_p.R258R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	258	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)																	---	---	---	---
RNF112	7732	broad.mit.edu	37	17	19319055	19319055	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19319055T>A	uc010vyw.1	+	14	1662	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	RNF112_uc010vyv.1_Missense_Mutation_p.V489D	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	488							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19470491	19470491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19470491G>A	uc002gvy.1	+	14	1345	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	SLC47A1_uc002gvx.2_Missense_Mutation_p.G420D|SLC47A1_uc010vyz.1_Missense_Mutation_p.G397D|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G225D|SLC47A1_uc010vza.1_Missense_Mutation_p.G132D|SLC47A1_uc010vzb.1_Missense_Mutation_p.G154D|SLC47A1_uc010vzc.1_Missense_Mutation_p.G92D	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	420	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19679710	19679710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19679710A>G	uc002gwm.3	-	27	3572	c.3063T>C	c.(3061-3063)AGT>AGC	p.S1021S	ULK2_uc002gwn.2_Silent_p.S1021S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	1021					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19705207	19705207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19705207T>C	uc002gwm.3	-	16	1833	c.1324A>G	c.(1324-1326)AGC>GGC	p.S442G	ULK2_uc002gwn.2_Missense_Mutation_p.S442G	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	442					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
AKAP10	11216	broad.mit.edu	37	17	19827780	19827780	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19827780C>G	uc002gwo.2	-	11	1829	c.1692G>C	c.(1690-1692)GCG>GCC	p.A564A	AKAP10_uc002gwp.1_Silent_p.A564A|AKAP10_uc010cqw.1_Silent_p.A506A	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	564					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)																	---	---	---	---
CYTSB	92521	broad.mit.edu	37	17	20135555	20135555	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20135555A>T	uc002gwq.2	+	7	2333	c.2188A>T	c.(2188-2190)ACC>TCC	p.T730S	CYTSB_uc010cqx.2_Missense_Mutation_p.T730S|CYTSB_uc002gwr.2_Missense_Mutation_p.T730S|CYTSB_uc002gws.2_Missense_Mutation_p.T730S|CYTSB_uc002gwv.2_Missense_Mutation_p.T649S|CYTSB_uc010vzf.1_Missense_Mutation_p.T70S|CYTSB_uc002gww.2_Missense_Mutation_p.T506S|CYTSB_uc002gwt.2_Missense_Mutation_p.T649S|CYTSB_uc002gwu.2_Missense_Mutation_p.T649S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	730	Potential.					nucleus					0																		---	---	---	---
CCDC144NL	339184	broad.mit.edu	37	17	20799218	20799218	+	Missense_Mutation	SNP	T	C	C	rs139153464	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20799218T>C	uc002gyf.2	-	1	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	39											0																		---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21204191	21204191	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21204191C>T	uc002gys.2	+	5	550	c.285C>T	c.(283-285)ATC>ATT	p.I95I	MAP2K3_uc002gyt.2_Silent_p.I66I|MAP2K3_uc002gyu.2_Silent_p.I66I	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	95	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)														---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449711	26449711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966990	26966990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26966990T>C	uc002hbu.2	-	9	1043	c.944A>G	c.(943-945)GAT>GGT	p.D315G	KIAA0100_uc002hbv.2_Missense_Mutation_p.D315G|KIAA0100_uc010crr.1_Missense_Mutation_p.D172G	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	315						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26970214	26970214	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26970214A>C	uc002hbu.2	-	4	463	c.364T>G	c.(364-366)TTC>GTC	p.F122V	KIAA0100_uc002hbv.2_Missense_Mutation_p.F122V|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	122						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27014479	27014479	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27014479A>G	uc002hby.2	+	23	3086	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	SUPT6H_uc010crt.2_Missense_Mutation_p.H999R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	999					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27061177	27061177	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27061177C>T	uc002hcp.2	+	2	224	c.224C>T	c.(223-225)GCC>GTC	p.A75V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	75	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)																	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27076177	27076177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27076177G>A	uc002hcs.2	+	7	1103	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	332	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)															---	---	---	---
TIAF1	9220	broad.mit.edu	37	17	27400906	27400906	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27400906G>A	uc002hdv.1	-	1	1722	c.312C>T	c.(310-312)GAC>GAT	p.D104D	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	104					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27437573	27437573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27437573C>T	uc002hdt.1	-	18	3126	c.2968G>A	c.(2968-2970)GGC>AGC	p.G990S	MYO18A_uc010wbc.1_Missense_Mutation_p.G532S|MYO18A_uc002hds.2_Missense_Mutation_p.G532S|MYO18A_uc010csa.1_Missense_Mutation_p.G990S|MYO18A_uc002hdu.1_Missense_Mutation_p.G990S|MYO18A_uc010wbd.1_Missense_Mutation_p.G659S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	990	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27442812	27442812	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27442812C>A	uc002hdt.1	-	12	2255	c.2097G>T	c.(2095-2097)GCG>GCT	p.A699A	MYO18A_uc010wbc.1_Silent_p.A241A|MYO18A_uc002hds.2_Silent_p.A241A|MYO18A_uc010csa.1_Silent_p.A699A|MYO18A_uc002hdu.1_Silent_p.A699A|MYO18A_uc010wbd.1_Silent_p.A368A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	699	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27794194	27794194	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27794194C>T	uc002hdz.1	+	3	358	c.164C>T	c.(163-165)GCC>GTC	p.A55V	TAOK1_uc010wbe.1_Missense_Mutation_p.A55V|TAOK1_uc010wbf.1_Missense_Mutation_p.A55V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	55	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818822	27818822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818822T>C	uc002hdz.1	+	10	964	c.770T>C	c.(769-771)TTT>TCT	p.F257S	TAOK1_uc010wbe.1_Missense_Mutation_p.F257S|TAOK1_uc010wbf.1_Missense_Mutation_p.F257S|TAOK1_uc002heb.1_Missense_Mutation_p.F83S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	257	Protein kinase.			F -> S (in Ref. 1; AAG38502).	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818871	27818871	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818871G>T	uc002hdz.1	+	10	1013	c.819G>T	c.(817-819)GAG>GAT	p.E273D	TAOK1_uc010wbe.1_Missense_Mutation_p.E273D|TAOK1_uc010wbf.1_Missense_Mutation_p.E273D|TAOK1_uc002heb.1_Missense_Mutation_p.E99D	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	273	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27901720	27901720	+	Nonstop_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27901720T>C	uc002hef.2	-	20	2500	c.2286A>G	c.(2284-2286)TGA>TGG	p.*762W	GIT1_uc002heg.2_Nonstop_Mutation_p.*771W|GIT1_uc010wbg.1_Nonstop_Mutation_p.*748W|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	762					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)														---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27939735	27939735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27939735G>A	uc002hei.2	+	13	1590	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	ANKRD13B_uc002heh.2_Missense_Mutation_p.G361S|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.G3S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	493											0																		---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27948258	27948258	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27948258A>T	uc002hel.2	-	1	184	c.182T>A	c.(181-183)GTC>GAC	p.V61D		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	61					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959499	27959499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27959499G>A	uc002heo.1	-	15	2632	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W	SSH2_uc010wbh.1_Missense_Mutation_p.R905W	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	878					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27977756	27977756	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27977756T>C	uc002heo.1	-	12	1061	c.1061A>G	c.(1060-1062)TAT>TGT	p.Y354C	SSH2_uc010wbh.1_Missense_Mutation_p.Y381C|SSH2_uc002hep.1_Missense_Mutation_p.Y354C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	354	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27999065	27999065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27999065C>T	uc002heo.1	-	8	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SSH2_uc010wbh.1_Missense_Mutation_p.V233M|SSH2_uc002hep.1_Missense_Mutation_p.V206M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	206					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28538348	28538348	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)													---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712243	28712243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712243A>G	uc002hfb.1	+	2	998	c.983A>G	c.(982-984)TAT>TGT	p.Y328C	CPD_uc010wbo.1_Missense_Mutation_p.Y81C|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	328	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712247	28712247	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712247T>C	uc002hfb.1	+	2	1002	c.987T>C	c.(985-987)GAT>GAC	p.D329D	CPD_uc010wbo.1_Silent_p.D82D|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	329	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28791791	28791791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28791791A>G	uc002hfb.1	+	21	4117	c.4102A>G	c.(4102-4104)ACA>GCA	p.T1368A	CPD_uc010wbo.1_Missense_Mutation_p.T1121A|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1368	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
GOSR1	9527	broad.mit.edu	37	17	28808272	28808272	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28808272A>G	uc002hfe.2	+	2	169	c.143A>G	c.(142-144)GAC>GGC	p.D48G	GOSR1_uc002hfd.2_Missense_Mutation_p.D48G|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.D48G	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	48	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0																		---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29161368	29161368	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29161368T>C	uc002hfs.1	+	2	615	c.269T>C	c.(268-270)GTA>GCA	p.V90A	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	90					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---
C17orf42	79736	broad.mit.edu	37	17	29231212	29231212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29231212A>G	uc002hfu.2	-	2	437	c.367T>C	c.(367-369)TAT>CAT	p.Y123H	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.Y123H|C17orf42_uc010wbs.1_Missense_Mutation_p.Y123H	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	123					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)																---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29283258	29283258	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29283258G>T	uc002hfx.2	+	10	1162	c.883_splice	c.e10-1	p.D295_splice	ADAP2_uc010csk.2_Splice_Site_p.D301_splice|ADAP2_uc002hfy.2_Splice_Site_p.D294_splice|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874			centaurin-alpha 2 protein						heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1																		---	---	---	---
NF1	4763	broad.mit.edu	37	17	29653192	29653192	+	Silent	SNP	C	A	A	rs143230984		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29653192C>A	uc002hgg.2	+	37	5523	c.5190C>A	c.(5188-5190)ACC>ACA	p.T1730T	NF1_uc002hgh.2_Silent_p.T1709T|NF1_uc002hgi.1_Silent_p.T742T|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1730	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30200688	30200688	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30200688A>G	uc002hgr.2	-						UTP6_uc002hgq.2_Intron|UTP6_uc010cst.2_Intron	NM_018428	NP_060898			hepatocellular carcinoma-associated antigen 66						rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348561	30348561	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348561A>G	uc002hgu.2	+	1	407	c.396A>G	c.(394-396)CCA>CCG	p.P132P	LRRC37B_uc010wbx.1_Silent_p.P50P|LRRC37B_uc010csu.2_Silent_p.P132P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	132	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348993	30348993	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348993G>A	uc002hgu.2	+	1	839	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	LRRC37B_uc010wbx.1_Silent_p.Q194Q|LRRC37B_uc010csu.2_Silent_p.Q276Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	276	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30349701	30349701	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30349701G>C	uc002hgu.2	+	1	1547	c.1536G>C	c.(1534-1536)CAG>CAC	p.Q512H	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q430H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q512H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	512	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
C17orf75	64149	broad.mit.edu	37	17	30662406	30662406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30662406A>G	uc002hhg.2	-	6	636	c.605T>C	c.(604-606)GTT>GCT	p.V202A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	202					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692341	30692341	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692341C>A	uc002hhh.3	+						ZNF207_uc002hhj.3_Intron|ZNF207_uc002hhi.3_Intron|ZNF207_uc010csz.2_Intron|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_Intron	NM_003457	NP_003448			zinc finger protein 207 isoform a							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692444	30692444	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692444A>T	uc002hhh.3	+	7	866	c.718A>T	c.(718-720)ACA>TCA	p.T240S	ZNF207_uc002hhj.3_Missense_Mutation_p.T256S|ZNF207_uc002hhi.3_Missense_Mutation_p.T256S|ZNF207_uc010csz.2_Missense_Mutation_p.T259S|ZNF207_uc002hhk.1_Missense_Mutation_p.T256S|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30986316	30986316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30986316G>A	uc002hho.1	-	17	2174	c.2162C>T	c.(2161-2163)ACC>ATC	p.T721I	MYO1D_uc002hhp.1_Missense_Mutation_p.T721I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	721	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)													OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCL8	6355	broad.mit.edu	37	17	32646550	32646550	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32646550G>A	uc002hib.2	+	1	485	c.30G>A	c.(28-30)CTG>CTA	p.L10L		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	10					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)																---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32959781	32959781	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32959781A>G	uc002hif.2	+	7	1599	c.1271A>G	c.(1270-1272)AAC>AGC	p.N424S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	424	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---
CCT6B	10693	broad.mit.edu	37	17	33266714	33266714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33266714A>G	uc002hig.2	-	9	1081	c.987T>C	c.(985-987)GGT>GGC	p.G329G	CCT6B_uc010ctg.2_Silent_p.G292G|CCT6B_uc010wcc.1_Silent_p.G284G	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	329					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)																---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33585998	33585998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33585998A>T	uc002hjf.3	+	2	406	c.289A>T	c.(289-291)ATT>TTT	p.I97F	SLFN5_uc002hje.2_Missense_Mutation_p.I97F|SLFN5_uc010wcg.1_Missense_Mutation_p.I97F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	97					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680045	33680045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680045T>C	uc010ctp.2	-	7	2478	c.2036A>G	c.(2035-2037)GAC>GGC	p.D679G	SLFN11_uc010ctq.2_Missense_Mutation_p.D679G|SLFN11_uc002hjh.3_Missense_Mutation_p.D679G|SLFN11_uc002hjg.3_Missense_Mutation_p.D679G|SLFN11_uc010ctr.2_Missense_Mutation_p.D679G	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	679						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680106	33680106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680106A>G	uc010ctp.2	-	7	2417	c.1975T>C	c.(1975-1977)TTT>CTT	p.F659L	SLFN11_uc010ctq.2_Missense_Mutation_p.F659L|SLFN11_uc002hjh.3_Missense_Mutation_p.F659L|SLFN11_uc002hjg.3_Missense_Mutation_p.F659L|SLFN11_uc010ctr.2_Missense_Mutation_p.F659L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	659						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN13	146857	broad.mit.edu	37	17	33772396	33772396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33772396C>T	uc002hjk.1	-	1	634	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SLFN13_uc010wch.1_Missense_Mutation_p.G102R|SLFN13_uc002hjl.2_Missense_Mutation_p.G102R|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_5'UTR	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	102						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34073121	34073121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34073121G>A	uc002hjv.1	-	6	1423	c.1395C>T	c.(1393-1395)GCC>GCT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
C17orf66	256957	broad.mit.edu	37	17	34183196	34183196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34183196T>C	uc002hke.1	-	13	1408	c.1259A>G	c.(1258-1260)CAG>CGG	p.Q420R	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q380R|C17orf66_uc010wcm.1_3'UTR	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	420							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)														---	---	---	---
ACACA	31	broad.mit.edu	37	17	35601597	35601597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35601597G>A	uc002hnm.2	-	21	2729	c.2538C>T	c.(2536-2538)GGC>GGT	p.G846G	ACACA_uc002hnk.2_Silent_p.G768G|ACACA_uc002hnl.2_Silent_p.G788G|ACACA_uc002hnn.2_Silent_p.G846G|ACACA_uc002hno.2_Silent_p.G883G|ACACA_uc010cuz.2_Silent_p.G846G	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	846					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
DUSP14	11072	broad.mit.edu	37	17	35872915	35872915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35872915G>A	uc002hnx.2	+	3	835	c.541G>A	c.(541-543)GTT>ATT	p.V181I	DUSP14_uc002hny.2_Missense_Mutation_p.V168I|DUSP14_uc002hnz.2_Missense_Mutation_p.V168I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	181							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35914085	35914085	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35914085T>C	uc002hoa.2	-	14	1823	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	SYNRG_uc010wde.1_Silent_p.S502S|SYNRG_uc010wdf.1_Silent_p.S502S|SYNRG_uc002hoc.2_Silent_p.S501S|SYNRG_uc002hoe.2_Silent_p.S502S|SYNRG_uc002hod.2_Silent_p.S502S|SYNRG_uc010wdg.1_Silent_p.S419S|SYNRG_uc002hob.2_Silent_p.S580S|SYNRG_uc002hof.2_Silent_p.S292S|SYNRG_uc010cvd.1_Silent_p.S380S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	580	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35931915	35931915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35931915A>G	uc002hoa.2	-	9	1156	c.1073T>C	c.(1072-1074)GTT>GCT	p.V358A	SYNRG_uc010wde.1_Missense_Mutation_p.V280A|SYNRG_uc010wdf.1_Missense_Mutation_p.V280A|SYNRG_uc002hoc.2_Missense_Mutation_p.V279A|SYNRG_uc002hoe.2_Missense_Mutation_p.V280A|SYNRG_uc002hod.2_Missense_Mutation_p.V280A|SYNRG_uc010wdg.1_Missense_Mutation_p.V280A|SYNRG_uc002hob.2_Missense_Mutation_p.V358A|SYNRG_uc002hof.2_Missense_Mutation_p.V70A|SYNRG_uc010cvd.1_Missense_Mutation_p.V158A|SYNRG_uc002hog.1_Missense_Mutation_p.V492A|SYNRG_uc010wdh.1_3'UTR	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	358	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35986896	35986896	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35986896C>T	uc002hoi.1	-	7	908	c.870G>A	c.(868-870)GTG>GTA	p.V290V	DDX52_uc002hoh.1_Silent_p.V182V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	290	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
DDX52	11056	broad.mit.edu	37	17	36003356	36003356	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36003356A>G	uc002hoi.1	-						DDX52_uc002hoh.1_Intron|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
TBC1D3	729873	broad.mit.edu	37	17	36288306	36288306	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36288306G>A	uc002hoo.2	+						TBC1D3_uc002hop.2_Intron|TBC1D3_uc010wdj.1_Intron|TBC1D3_uc010cvf.1_Intron|TBC1D3_uc002hoq.2_Intron|TBC1D3_uc010wdk.1_Intron|uc002hpl.2_5'Flank|uc002hor.2_5'Flank	NM_032258	NP_115634			TBC1 domain family, member 3F							intracellular	Rab GTPase activator activity				0	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36865786	36865786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36865786C>T	uc002hqi.3	+	6	523	c.510C>T	c.(508-510)AAC>AAT	p.N170N	MLLT6_uc010wdr.1_Silent_p.N170N|MLLT6_uc010cvm.1_Silent_p.N170N	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	170	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36895090	36895090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)																	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243861	37243861	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243861C>T	uc002hrg.2	-	8	1118	c.906G>A	c.(904-906)CCG>CCA	p.P302P	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.P10P|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	302	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
RPL19	6143	broad.mit.edu	37	17	37359273	37359273	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37359273G>T	uc002hrq.1	+	4	329	c.267G>T	c.(265-267)ATG>ATT	p.M89I	RPL19_uc002hrr.1_Missense_Mutation_p.M87I	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0																		---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37420566	37420566	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37420566C>T	uc010wed.1	-	14	1286	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	FBXL20_uc002hrt.2_Silent_p.Q355Q|FBXL20_uc010cvu.2_Silent_p.Q323Q	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	355	LRR 11.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37455285	37455285	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37455285A>T	uc010wed.1	-	5	508	c.287T>A	c.(286-288)TTA>TAA	p.L96*	FBXL20_uc002hrt.2_Nonsense_Mutation_p.L96*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.L96*	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	96	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565253	37565253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37565253A>G	uc002hrv.3	-	17	3433	c.3221T>C	c.(3220-3222)GTG>GCG	p.V1074A	MED1_uc010wee.1_Missense_Mutation_p.V902A|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1074					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566692	37566692	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37566692G>A	uc002hrv.3	-	17	1994	c.1782C>T	c.(1780-1782)GAC>GAT	p.D594D	MED1_uc010wee.1_Silent_p.D422D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	594	Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38142913A>G	uc002htn.1	+	3	661	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)																	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38643669	38643669	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38643669A>T	uc010cxb.2	-	4	1071	c.907T>A	c.(907-909)TCT>ACT	p.S303T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	303	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859802	38859802	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38859802G>A	uc002hvd.2	-	1	201	c.144C>T	c.(142-144)AGC>AGT	p.S48S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	48	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38907439	38907439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38907439G>A	uc002hve.2	-	4	870	c.809C>T	c.(808-810)GCG>GTG	p.A270V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)																---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38953225	38953225	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39036904	39036904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39036904T>C	uc002hvl.2	-	3	634	c.592A>G	c.(592-594)AAT>GAT	p.N198D		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	198	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39086189	39086189	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39086189T>C	uc002hvm.1	-						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Intron|KRT23_uc002hvn.1_Intron	NM_015515	NP_056330			keratin 23							intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39114896	39114896	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39114896T>A	uc002hvo.1	-	7	1469	c.1433A>T	c.(1432-1434)GAG>GTG	p.E478V	KRT39_uc010wfm.1_Missense_Mutation_p.E211V	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	478	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39122754	39122754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39122754G>A	uc002hvo.1	-	1	391	c.355C>T	c.(355-357)CGA>TGA	p.R119*	KRT39_uc010wfm.1_Translation_Start_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	119	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39137109	39137109	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39137109G>A	uc010cxh.1	-	7	1064	c.903C>T	c.(901-903)TGC>TGT	p.C301C	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	301	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39503440	39503440	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39503440C>T	uc002hwk.1	-	4	660	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	208	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
KRT34	3885	broad.mit.edu	37	17	39535677	39535677	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39535677G>A	uc002hwm.2	-	5	942	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	310	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)																---	---	---	---
KRT32	3882	broad.mit.edu	37	17	39623459	39623459	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39623459A>G	uc002hwr.2	-	1	180	c.119T>C	c.(118-120)GTC>GCC	p.V40A		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	40	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)																---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39740076	39740076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39740076C>T	uc002hxf.1	-	4	924	c.863G>A	c.(862-864)CGT>CAT	p.R288H	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288H	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39921283	39921283	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39921283C>T	uc002hxq.2	-	6	1223	c.946G>A	c.(946-948)GTG>ATG	p.V316M	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.V316M|JUP_uc002hxs.2_Missense_Mutation_p.V316M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	316					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39974715	39974715	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39974715G>A	uc002hxv.2	+	4	988	c.663G>A	c.(661-663)ATG>ATA	p.M221I	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	221	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39977960	39977960	+	Missense_Mutation	SNP	G	A	A	rs144314381	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39977960G>A	uc002hxv.2	+	9	1779	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R249Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	485	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	39998572	39998572	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39998572T>C	uc010cxr.2	+						KLHL10_uc010wfv.1_Intron|KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40001942	40001942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40001942G>A	uc010cxr.2	+	3	1391	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	KLHL10_uc010wfv.1_Missense_Mutation_p.A411T|KLHL10_uc010wfw.1_Missense_Mutation_p.A329T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	417	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40141535	40141535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40141535A>G	uc002hyo.2	-	7	877	c.640T>C	c.(640-642)TAT>CAT	p.Y214H	DNAJC7_uc010cxu.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxv.2_Missense_Mutation_p.Y158H|DNAJC7_uc010wgb.1_Missense_Mutation_p.Y158H|DNAJC7_uc010wgc.1_Missense_Mutation_p.Y72H|DNAJC7_uc002hyp.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	214	TPR 6.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)																---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40330388	40330388	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40330388C>A	uc002hzb.2	-	3	751	c.418G>T	c.(418-420)GGA>TGA	p.G140*		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	140	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)														---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40344600	40344600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40344600C>A	uc002hzd.2	-	4	1032	c.548G>T	c.(547-549)AGG>ATG	p.R183M	GHDC_uc002hzg.1_Missense_Mutation_p.R183M|GHDC_uc010wgg.1_Missense_Mutation_p.R144M|GHDC_uc002hze.3_Missense_Mutation_p.R183M|GHDC_uc002hzf.3_Missense_Mutation_p.R183M|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	183						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)														---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40458336	40458336	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40458336C>T	uc002hzj.1	+	14	2193	c.1551C>T	c.(1549-1551)GCC>GCT	p.A517A	STAT5A_uc010cya.1_Silent_p.A517A|STAT5A_uc010cyb.1_Silent_p.A486A|STAT5A_uc010cyc.1_Silent_p.A487A|STAT5A_uc010cyd.1_Silent_p.A5A|STAT5A_uc010cye.1_Silent_p.A5A	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	517					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40839038	40839038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40839038C>T	uc002iay.2	+	7	1234	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	340	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840476	40840476	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840476C>T	uc002iay.2	+						CNTNAP1_uc010wgs.1_Intron	NM_003632	NP_003623			contactin associated protein 1 precursor						axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840482	40840482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840482T>C	uc002iay.2	+	9	1525	c.1309T>C	c.(1309-1311)TAC>CAC	p.Y437H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	437	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40937321	40937321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40937321C>T	uc002ibj.2	+	6	1318	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C	WNK4_uc010wgx.1_Missense_Mutation_p.R97C|WNK4_uc002ibk.1_Missense_Mutation_p.R205C|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	433					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---
BECN1	8678	broad.mit.edu	37	17	40970232	40970232	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40970232C>T	uc002ibo.3	-						BECN1_uc010whb.1_Intron|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Intron	NM_003766	NP_003757			beclin 1						anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)														---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40990148	40990148	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40990148A>G	uc002ibr.2	+	6	557	c.331A>G	c.(331-333)AGC>GGC	p.S111G	PSME3_uc002ibp.2_Missense_Mutation_p.S50G|PSME3_uc002ibq.2_Missense_Mutation_p.S111G|PSME3_uc002ibs.2_Missense_Mutation_p.S122G|PSME3_uc010whd.1_Intron	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004027	41004027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41004027C>T	uc002ibv.2	+	1	827	c.667C>T	c.(667-669)CGG>TGG	p.R223W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	223	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)													---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41108275	41108275	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41108275G>A	uc002icc.2	-	6	612	c.609C>T	c.(607-609)GGC>GGT	p.G203G	AARSD1_uc002icd.2_Silent_p.G316G|AARSD1_uc002ice.2_Silent_p.G286G|AARSD1_uc002icf.2_Silent_p.G377G|AARSD1_uc010whg.1_Silent_p.G377G|AARSD1_uc010cyu.1_Silent_p.G203G	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	203					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41131289	41131289	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41131289C>T	uc002icf.2	-						AARSD1_uc002icd.2_Intron|AARSD1_uc002ice.2_Intron|AARSD1_uc010whg.1_Intron|AARSD1_uc002icg.2_Intron|AARSD1_uc002ich.2_Intron|AARSD1_uc010whh.1_Intron|RUNDC1_uc002ici.1_5'Flank|RUNDC1_uc010whi.1_5'Flank	NM_025267	NP_079543			alanyl-tRNA synthetase domain containing 1						alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41168068	41168068	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41168068G>T	uc002icm.1	-	6					VAT1_uc010cyw.1_3'UTR|VAT1_uc010whk.1_3'UTR	NM_006373	NP_006364			vesicle amine transport protein 1							cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41170164	41170164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41170164C>T	uc002icm.1	-	3	775	c.655G>A	c.(655-657)GGA>AGA	p.G219R	VAT1_uc010cyw.1_Missense_Mutation_p.G85R|VAT1_uc010whk.1_Missense_Mutation_p.G151R	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	219						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246804	41246804	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41246804G>T	uc002icq.2	-	10	976	c.744C>A	c.(742-744)ACC>ACA	p.T248T	BRCA1_uc010whp.1_Silent_p.T201T|BRCA1_uc010whl.1_Silent_p.T248T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T177T|BRCA1_uc002icu.2_Silent_p.T248T|BRCA1_uc010cyx.2_Silent_p.T201T|BRCA1_uc002ict.2_Silent_p.T248T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T80T|BRCA1_uc002idc.1_Silent_p.T247T|BRCA1_uc010whr.1_Silent_p.T201T|BRCA1_uc002idd.2_Silent_p.T248T|BRCA1_uc002ide.1_Silent_p.T79T|BRCA1_uc010cyy.1_Silent_p.T248T|BRCA1_uc010whs.1_Silent_p.T248T|BRCA1_uc010cyz.2_Silent_p.T201T|BRCA1_uc010cza.2_Silent_p.T222T|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	248					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---
TMEM106A	113277	broad.mit.edu	37	17	41368704	41368704	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41368704T>A	uc002idn.1	+						TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Intron|TMEM106A_uc010whz.1_Intron	NM_145041	NP_659478			transmembrane protein 106A							integral to membrane					0		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)														---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610241	41610241	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41610241G>T	uc002idw.2	-	8	740	c.612C>A	c.(610-612)CCC>CCA	p.P204P	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.P150P|ETV4_uc010czh.2_Silent_p.P203P|ETV4_uc010wii.1_Silent_p.P165P|ETV4_uc002idx.2_Silent_p.P204P|ETV4_uc010wij.1_Silent_p.P165P	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	204	Gln-rich.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)				T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41891392	41891392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41891392G>A	uc002iei.3	-	16	1408	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	MPP3_uc002ieh.2_Silent_p.G439G|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41903165	41903165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41903165C>T	uc002iei.3	-	9	734	c.568G>A	c.(568-570)GCA>ACA	p.A190T	MPP3_uc002ieh.2_Missense_Mutation_p.A215T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A190T|MPP3_uc010wik.1_Missense_Mutation_p.A215T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	190	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
PPY	5539	broad.mit.edu	37	17	42018862	42018862	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42018862C>T	uc002iep.2	-	2	206	c.161G>A	c.(160-162)CGT>CAT	p.R54H		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	54					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
NAGS	162417	broad.mit.edu	37	17	42082072	42082072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42082072C>A	uc002ies.2	+	1	41	c.41C>A	c.(40-42)GCT>GAT	p.A14D	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.A14D|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	14					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)													---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42089614	42089614	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42089614T>A	uc002ieu.2	-						TMEM101_uc010wis.1_Intron	NM_032376	NP_115752			transmembrane protein 101						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42162039	42162039	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42162039A>T	uc002ifd.1	-	16	2400	c.2189T>A	c.(2188-2190)ATC>AAC	p.I730N	HDAC5_uc002ife.1_Missense_Mutation_p.I730N|HDAC5_uc002iff.1_Missense_Mutation_p.I731N|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.I40N|HDAC5_uc002ifh.2_Missense_Mutation_p.I730N	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	730	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)												OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42225348	42225348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42225348G>A	uc002ifi.1	+	3	362	c.177G>A	c.(175-177)AGG>AGA	p.R59R	C17orf53_uc010czq.1_Silent_p.R59R|C17orf53_uc002ifj.1_Silent_p.R59R|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	59											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42230037	42230037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42230037G>T	uc002ifi.1	+	5	1526	c.1341G>T	c.(1339-1341)GAG>GAT	p.E447D	C17orf53_uc010czq.1_Missense_Mutation_p.E447D|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	447											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42286718	42286718	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42286718A>G	uc002igb.2	-	16	1972	c.1905_splice	c.e16+1	p.K635_splice	UBTF_uc002igc.2_Splice_Site_p.K598_splice|UBTF_uc010czs.2_Splice_Site_p.K635_splice|UBTF_uc002igd.2_Splice_Site_p.K598_splice|UBTF_uc010czt.2_Splice_Site_p.K635_splice	NM_014233	NP_055048			upstream binding transcription factor, RNA						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42463260	42463260	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42463260T>G	uc002igt.1	-	3	372	c.340A>C	c.(340-342)ACT>CCT	p.T114P		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	114	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)													---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478681	42478681	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42478681G>A	uc002igw.1	-	8	828	c.764C>T	c.(763-765)ACA>ATA	p.T255I	GPATCH8_uc002igv.1_Missense_Mutation_p.T177I|GPATCH8_uc010wiz.1_Missense_Mutation_p.T177I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	255						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42928638	42928638	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42928638G>A	uc002ihn.2	-	28					EFTUD2_uc010wje.1_3'UTR|EFTUD2_uc010wjf.1_3'UTR	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42937909	42937909	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42937909T>C	uc002ihn.2	-	17	1871	c.1610A>G	c.(1609-1611)TAC>TGC	p.Y537C	EFTUD2_uc010wje.1_Missense_Mutation_p.Y502C|EFTUD2_uc010wjf.1_Missense_Mutation_p.Y527C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	537						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
C1QL1	10882	broad.mit.edu	37	17	43044935	43044935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43044935G>A	uc002ihv.2	-	1	710	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)																---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43190323	43190323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43190323G>A	uc002iib.2	-	15	2303	c.2189C>T	c.(2188-2190)GCA>GTA	p.A730V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	730	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
C17orf46	124783	broad.mit.edu	37	17	43333338	43333338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43333338C>T	uc002iis.1	-	4	307	c.211G>A	c.(211-213)GCT>ACT	p.A71T	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.A50T	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	71										large_intestine(1)|ovary(1)	2																		---	---	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473343	43473343	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43473343G>A	uc002iix.2	-						ARHGAP27_uc010dak.2_Intron	NM_199282	NP_954976			Rho GTPase activating protein 27 isoform a						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)																	---	---	---	---
IMP5	162540	broad.mit.edu	37	17	43923692	43923692	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43923692G>A	uc010wka.1	+	1	1420	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	474	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44061147	44061147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44061147C>T	uc002ijr.3	+	6	1297	c.977C>T	c.(976-978)GCA>GTA	p.A326V	MAPT_uc010dau.2_Missense_Mutation_p.A326V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	326					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44116579	44116579	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44116579G>A	uc002ikb.2	-	8	2291	c.2206C>T	c.(2206-2208)CTG>TTG	p.L736L	KIAA1267_uc002ikc.2_Silent_p.L736L|KIAA1267_uc002ikd.2_Silent_p.L736L|KIAA1267_uc010dav.2_Silent_p.L736L|KIAA1267_uc010wkb.1_Silent_p.L67L|KIAA1267_uc010wkc.1_Intron	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	736						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44248979	44248979	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44248979A>G	uc002ikb.2	-	1	616	c.531T>C	c.(529-531)AAT>AAC	p.N177N	KIAA1267_uc002ikc.2_Silent_p.N177N|KIAA1267_uc002ikd.2_Silent_p.N177N|KIAA1267_uc010dav.2_Silent_p.N177N	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	177						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44626418	44626418	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44626418T>A	uc002ikn.1	+	9	3916	c.3913T>A	c.(3913-3915)TAC>AAC	p.Y1305N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.Y266N|LRRC37A2_uc010dax.1_Missense_Mutation_p.Y235N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1305	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)														---	---	---	---
NSF	4905	broad.mit.edu	37	17	44806237	44806237	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44806237C>T	uc002iku.2	+	17	1949	c.1845C>T	c.(1843-1845)GGC>GGT	p.G615G	NSF_uc010wke.1_Silent_p.G521G|NSF_uc010wkf.1_Silent_p.G521G|NSF_uc010wkg.1_Silent_p.G610G	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	615					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)														---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45904545	45904545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45904545C>T	uc002ilz.2	-	3	274	c.248G>A	c.(247-249)CGC>CAC	p.R83H	MRPL10_uc010wky.1_Missense_Mutation_p.R44H|MRPL10_uc002ily.2_Missense_Mutation_p.R93H	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	83					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1																		---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45909496	45909496	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45909496G>A	uc002ima.2	+	2	297	c.41G>A	c.(40-42)GGC>GAC	p.G14D	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	14										ovary(1)	1																		---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46057957	46057957	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46057957A>T	uc002imr.2	+	12	1162	c.1078_splice	c.e12-2	p.L360_splice	CDK5RAP3_uc010wlc.1_Splice_Site_p.L380_splice|CDK5RAP3_uc002imq.1_Splice_Site_p.L135_splice|CDK5RAP3_uc002imu.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002ims.2_Splice_Site_p.L273_splice|CDK5RAP3_uc002imv.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002imw.2_Splice_Site_p.L202_splice|CDK5RAP3_uc002imx.2_Splice_Site_p.L135_splice	NM_176096	NP_788276			CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0																		---	---	---	---
CBX1	10951	broad.mit.edu	37	17	46153532	46153532	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46153532T>C	uc002ind.3	-	3	630	c.149A>G	c.(148-150)AAC>AGC	p.N50S	CBX1_uc002ine.3_Missense_Mutation_p.N50S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	50	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0																		---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608232	46608232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46608232T>C	uc002ink.1	-	1	41	c.35A>G	c.(34-36)TAC>TGC	p.Y12C		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	12						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
HOXB5	3215	broad.mit.edu	37	17	46669628	46669628	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46669628C>A	uc002inr.2	-	2	812	c.753G>T	c.(751-753)AAG>AAT	p.K251N	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	251	Homeobox.					nucleus	sequence-specific DNA binding				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691747	46691747	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691747T>C	uc002inw.2	-	1	555	c.320A>G	c.(319-321)TAC>TGC	p.Y107C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691765	46691765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691765T>C	uc002inw.2	-	1	537	c.302A>G	c.(301-303)GAT>GGT	p.D101G		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46804235	46804235	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46804235G>A	uc002ioa.2	-	2	928	c.772C>T	c.(772-774)CGC>TGC	p.R258C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	258	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46847394	46847394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46847394C>T	uc010wlo.1	-	15	2141	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	TTLL6_uc002iob.2_Silent_p.P395P|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.P455P|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	654						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0																		---	---	---	---
GIP	2695	broad.mit.edu	37	17	47039154	47039154	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47039154C>T	uc002iol.1	-	4	383	c.285G>A	c.(283-285)GAG>GAA	p.E95E		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	95					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1																		---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121413	47121413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47121413A>G	uc002iom.2	+	11	1619	c.1285A>G	c.(1285-1287)AAA>GAA	p.K429E	IGF2BP1_uc010dbj.2_Missense_Mutation_p.K290E	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	429	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---
GNGT2	2793	broad.mit.edu	37	17	47284707	47284707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47284707T>C	uc002ioo.1	-	3	385	c.78A>G	c.(76-78)AGA>AGG	p.R26R	ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	26					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)															---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47583768	47583768	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47583768G>A	uc002ioz.3	+	3	441	c.316G>A	c.(316-318)GTG>ATG	p.V106M		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	106	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---
DLX3	1747	broad.mit.edu	37	17	48072105	48072105	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48072105A>G	uc002ipy.2	-	1	484	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48154746	48154746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48263363	48263363	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48263363C>A	uc002iqm.2	-	50	4150	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48267694	48267694	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48267694G>A	uc002iqm.2	-	35	2571	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	815	Triple-helical region.		G -> V (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458187	48458187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48458187C>T	uc002iqs.1	+	9	1673	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	EME1_uc010dbp.1_Missense_Mutation_p.R547C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	534					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)										Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48539648	48539648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48539648C>T	uc002iqu.2	+	5	715	c.611C>T	c.(610-612)GCC>GTC	p.A204V	ACSF2_uc010wml.1_Missense_Mutation_p.A161V|ACSF2_uc010wmm.1_Missense_Mutation_p.A229V|ACSF2_uc010wmn.1_Missense_Mutation_p.A191V|ACSF2_uc010wmo.1_Missense_Mutation_p.A44V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	204					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48542719	48542719	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48542719C>A	uc010dbr.2	-	3	1073	c.1020G>T	c.(1018-1020)ACG>ACT	p.T340T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.T340T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	340	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48545855	48545855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48545855G>A	uc010dbr.2	-	1	373	c.320C>T	c.(319-321)TCC>TTC	p.S107F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.S107F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	107	LRR 2.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48603399	48603399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48603399G>A	uc010wmr.1	+	14	2231	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	653					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)															---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48626681	48626681	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48626681G>T	uc002irf.2	+	6	788	c.647G>T	c.(646-648)AGC>ATC	p.S216I	SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.S172I|SPATA20_uc002ird.2_Missense_Mutation_p.S232I|SPATA20_uc010wmv.1_Missense_Mutation_p.S242I|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	216					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)															---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678434	48678434	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678434A>G	uc002irk.1	+	19	4186	c.3814A>G	c.(3814-3816)ATC>GTC	p.I1272V	CACNA1G_uc002iri.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irj.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irl.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irm.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irn.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iro.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irp.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irq.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irr.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irs.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irt.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irv.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irw.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iru.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irx.1_Missense_Mutation_p.I1185V|CACNA1G_uc002iry.1_Missense_Mutation_p.I1185V|CACNA1G_uc002irz.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isa.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isb.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isc.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isd.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ise.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isf.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isg.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ish.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isi.1_Missense_Mutation_p.I1162V|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1272	Cytoplasmic (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678461	48678461	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678461G>A	uc002irk.1	+	19	4213	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	CACNA1G_uc002iri.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irj.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irl.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irm.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irn.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iro.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irp.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irq.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irr.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irs.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irt.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irv.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irw.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iru.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irx.1_Missense_Mutation_p.V1194M|CACNA1G_uc002iry.1_Missense_Mutation_p.V1194M|CACNA1G_uc002irz.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isa.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isb.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isc.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isd.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ise.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isf.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isg.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ish.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isi.1_Missense_Mutation_p.V1171M|CACNA1G_uc002isj.2_Missense_Mutation_p.V5M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1281	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48680184	48680184	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48680184C>T	uc002irk.1	+	20	4291	c.3919C>T	c.(3919-3921)CGC>TGC	p.R1307C	CACNA1G_uc002iri.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irj.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irl.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irm.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irn.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iro.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irp.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irq.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irr.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irs.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irt.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irv.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irw.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iru.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irx.1_Missense_Mutation_p.R1220C|CACNA1G_uc002iry.1_Missense_Mutation_p.R1220C|CACNA1G_uc002irz.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isa.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isb.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isc.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isd.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ise.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isf.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isg.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ish.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isi.1_Missense_Mutation_p.R1197C|CACNA1G_uc002isj.2_Missense_Mutation_p.R31C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1307	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940379	48940379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48940379A>G	uc002isw.2	-	1	1035	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	TOB1_uc010wmy.1_Missense_Mutation_p.Y334H|TOB1_uc010wmz.1_Missense_Mutation_p.Y334H	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	334					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)															---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49048098	49048098	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49048098C>T	uc002itc.2	-	29	4029	c.3820G>A	c.(3820-3822)GGA>AGA	p.G1274R	SPAG9_uc002itb.2_Missense_Mutation_p.G1260R|SPAG9_uc002itd.2_Missense_Mutation_p.G1264R|SPAG9_uc002ita.2_Missense_Mutation_p.G1130R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1274					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)															---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52978291	52978291	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52978291A>G	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53108540	53108540	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53108540T>A	uc002iuf.1	+	9	885	c.678T>A	c.(676-678)TAT>TAA	p.Y226*	STXBP4_uc010dcc.1_Nonsense_Mutation_p.Y151*|STXBP4_uc010dcd.1_Nonsense_Mutation_p.Y226*	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	226						cytoplasm	calcium ion binding			ovary(1)	1																		---	---	---	---
HLF	3131	broad.mit.edu	37	17	53342842	53342842	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53342842C>T	uc002iug.1	+	1					HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117			hepatic leukemia factor						multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
HLF	3131	broad.mit.edu	37	17	53392616	53392616	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53392616A>G	uc002iug.1	+	3	1005	c.480A>G	c.(478-480)ACA>ACG	p.T160T	HLF_uc010dce.1_Silent_p.T75T|HLF_uc002iuh.2_Silent_p.T75T|HLF_uc010wni.1_Silent_p.T107T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	160	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
MMD	23531	broad.mit.edu	37	17	53478860	53478860	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53478860T>A	uc002iui.2	-	6	771	c.486A>T	c.(484-486)GGA>GGT	p.G162G		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	162	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54450156	54450156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54450156A>G	uc002iun.1	+	6	795	c.760A>G	c.(760-762)AGG>GGG	p.R254G		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	254										large_intestine(1)|ovary(1)	2																		---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54981649	54981649	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54981649G>T	uc002iut.2	-	3	954	c.894C>A	c.(892-894)AGC>AGA	p.S298R	TRIM25_uc010dcj.2_Missense_Mutation_p.S90R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	298	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)																	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56276948	56276948	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56276948G>A	uc002ivq.2	+	9	1416	c.1330G>A	c.(1330-1332)GCC>ACC	p.A444T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	444					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2																		---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56284448	56284448	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56284448T>C	uc002ivr.1	-	15	1480	c.1405A>G	c.(1405-1407)AAG>GAG	p.K469E	MKS1_uc010wnq.1_Missense_Mutation_p.K266E|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	469					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1																		---	---	---	---
LPO	4025	broad.mit.edu	37	17	56345358	56345358	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56345358G>A	uc002ivt.2	+	13					LPO_uc010wns.1_3'UTR|LPO_uc010dcp.2_3'UTR|LPO_uc010dcq.2_3'UTR|LPO_uc010dcr.2_3'UTR	NM_006151	NP_006142			lactoperoxidase isoform 1 preproprotein						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2																		---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56439908	56439908	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56439908C>T	uc002iwf.2	-	5	2640	c.684G>A	c.(682-684)AGG>AGA	p.R228R	RNF43_uc010wnv.1_Silent_p.R187R|RNF43_uc002iwh.3_Silent_p.R228R|RNF43_uc002iwg.3_Silent_p.R228R|RNF43_uc010dcw.2_Silent_p.R101R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56540625	56540625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56540625G>A	uc002iwi.1	-	4	1184	c.1060C>T	c.(1060-1062)CCT>TCT	p.P354S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	354						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565215	56565215	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565215C>T	uc002iwi.1	-	1	545	c.421G>A	c.(421-423)GGC>AGC	p.G141S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	141	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565535	56565535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565535C>T	uc002iwi.1	-	1	225	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	34	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56582887	56582887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56582887C>T	uc002iwj.2	-	11	1159	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	350	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56598409	56598409	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56598409T>C	uc002iwm.1	-	10	1355	c.1227A>G	c.(1225-1227)GCA>GCG	p.A409A	SEPT4_uc002iwk.1_Silent_p.A262A|SEPT4_uc010wnw.1_Silent_p.A262A|SEPT4_uc002iwl.1_Silent_p.A262A|SEPT4_uc002iwn.1_Silent_p.A310A|SEPT4_uc002iwo.1_Silent_p.A390A|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.A424A|SEPT4_uc010wny.1_Silent_p.A401A|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	409					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)															OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56604289G>A	uc002iwm.1	-	2	239	c.111C>T	c.(109-111)TTC>TTT	p.F37F	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Silent_p.F18F|SEPT4_uc002iwp.1_Silent_p.F18F|SEPT4_uc010wnx.1_Silent_p.F52F|SEPT4_uc010wny.1_Silent_p.F29F|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56679164	56679164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56679164T>C	uc010dcz.1	-						TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56692669	56692669	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56692669G>T	uc010dcz.1	-	8	941	c.823C>A	c.(823-825)CTG>ATG	p.L275M	TEX14_uc002iwr.1_Missense_Mutation_p.L269M|TEX14_uc002iws.1_Missense_Mutation_p.L269M|TEX14_uc010dda.1_Missense_Mutation_p.L49M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	275	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57125059	57125059	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57125059A>G	uc002iwy.3	-	16	2096	c.1652T>C	c.(1651-1653)ATT>ACT	p.I551T	TRIM37_uc002iwz.3_Missense_Mutation_p.I551T|TRIM37_uc002ixa.3_Missense_Mutation_p.I429T|TRIM37_uc010woc.1_Missense_Mutation_p.I517T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	551						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
SKA2	348235	broad.mit.edu	37	17	57196750	57196750	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57196750C>G	uc002ixd.2	-	3	503	c.227G>C	c.(226-228)AGC>ACC	p.S76T	SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Intron|SKA2_uc002ixe.2_Intron	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	76					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
C17orf71	55181	broad.mit.edu	37	17	57288871	57288871	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57288871G>T	uc002ixi.2	+	1	1501	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	487					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)																	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57762469	57762469	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57762469C>A	uc002ixq.1	+	29	4930	c.4487C>A	c.(4486-4488)GCT>GAT	p.A1496D	CLTC_uc002ixp.2_Missense_Mutation_p.A1496D|CLTC_uc002ixr.1_Missense_Mutation_p.A1500D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1496	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57955509	57955509	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57955509T>A	uc002ixw.1	-	5	1002	c.724A>T	c.(724-726)ACT>TCT	p.T242S	TUBD1_uc010ddf.1_Missense_Mutation_p.T242S|TUBD1_uc010ddg.1_Missense_Mutation_p.T207S|TUBD1_uc010ddh.1_Missense_Mutation_p.T123S|TUBD1_uc010wok.1_Missense_Mutation_p.T242S|TUBD1_uc002ixx.1_Missense_Mutation_p.T242S|TUBD1_uc010wol.1_Missense_Mutation_p.T26S|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	242					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)															---	---	---	---
CA4	762	broad.mit.edu	37	17	58233921	58233921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58233921T>C	uc002iym.3	+	3	207	c.113T>C	c.(112-114)GTG>GCG	p.V38A	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	38					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)													---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58952026	58952026	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58952026C>T	uc002iyv.3	+	9	697	c.588C>T	c.(586-588)ATC>ATT	p.I196I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.I196I|BCAS3_uc002iyw.3_Silent_p.I192I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	196						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58967097	58967097	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58967097C>A	uc002iyv.3	+	10	812	c.703C>A	c.(703-705)CTT>ATT	p.L235I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.L235I|BCAS3_uc002iyw.3_Missense_Mutation_p.L231I|BCAS3_uc002iyx.1_Missense_Mutation_p.L50I|BCAS3_uc002iyy.3_Missense_Mutation_p.L6I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	235						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59480452	59480452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59480452C>T	uc010wox.1	+	3	975	c.694C>T	c.(694-696)CCG>TCG	p.P232S	TBX2_uc002ize.2_Missense_Mutation_p.P222S|TBX2_uc002izg.2_Missense_Mutation_p.P78S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	232	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0																		---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59560379	59560379	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59560379C>T	uc002izi.2	+	8	1185	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	TBX4_uc010ddo.2_Silent_p.P381P|TBX4_uc010woy.1_Silent_p.P381P	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	380					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
TLK2	11011	broad.mit.edu	37	17	60678155	60678155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60678155C>T	uc010ddp.2	+	19	2028	c.1760C>T	c.(1759-1761)CCC>CTC	p.P587L	TLK2_uc002izx.3_Missense_Mutation_p.P413L|TLK2_uc002izz.3_Missense_Mutation_p.P565L|TLK2_uc002jaa.3_Missense_Mutation_p.P533L|TLK2_uc010wpd.1_Missense_Mutation_p.P533L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	587	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2																		---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60757577	60757577	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60757577T>A	uc002jad.2	+	15	2747	c.2345T>A	c.(2344-2346)ATC>AAC	p.I782N	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	782	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60802447	60802447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60802447G>A	uc010ddr.2	-	7	2194	c.1956C>T	c.(1954-1956)TCC>TCT	p.S652S	MARCH10_uc002jag.3_Silent_p.S652S|MARCH10_uc010dds.2_Silent_p.S690S|MARCH10_uc002jah.2_Silent_p.S651S|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	652	RING-CH-type.						ligase activity|zinc ion binding				0																		---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61473221	61473221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61473221G>A	uc002jal.3	+	16	2970	c.2947G>A	c.(2947-2949)GGA>AGA	p.G983R	TANC2_uc010wpe.1_Missense_Mutation_p.G893R|TANC2_uc002jan.1_Missense_Mutation_p.G134R|TANC2_uc002jao.3_Missense_Mutation_p.G84R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	983							binding			ovary(2)	2																		---	---	---	---
ACE	1636	broad.mit.edu	37	17	61561282	61561282	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61561282A>G	uc002jau.1	+	11	1681	c.1659A>G	c.(1657-1659)CCA>CCG	p.P553P	ACE_uc010ddu.1_Silent_p.P370P|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	553	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)													---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611428	61611428	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61611428A>G	uc002jay.2	+	5	937	c.857A>G	c.(856-858)GAC>GGC	p.D286G	KCNH6_uc002jax.1_Missense_Mutation_p.D286G|KCNH6_uc010wpl.1_Missense_Mutation_p.D163G|KCNH6_uc010wpm.1_Missense_Mutation_p.D286G|KCNH6_uc002jaz.1_Missense_Mutation_p.D286G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	286	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)													---	---	---	---
DCAF7	10238	broad.mit.edu	37	17	61628105	61628105	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61628105A>T	uc002jbc.2	+	1	284	c.67A>T	c.(67-69)AAC>TAC	p.N23Y	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.N23Y	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	23					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1																		---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61902762	61902762	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61902762A>G	uc002jbz.2	-	6	513	c.435T>C	c.(433-435)TGT>TGC	p.C145C	FTSJ3_uc002jca.2_Silent_p.C145C|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	145					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61909265	61909265	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61909265C>T	uc002jcb.2	+						PSMC5_uc010ddy.2_Intron|PSMC5_uc010ddz.2_Intron|PSMC5_uc002jcc.2_Intron|PSMC5_uc002jcd.2_Intron	NM_002805	NP_002796			proteasome 26S ATPase subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61914568	61914568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61914568A>G	uc010deb.1	-	3	748	c.431T>C	c.(430-432)GTT>GCT	p.V144A	SMARCD2_uc010wpt.1_Missense_Mutation_p.V96A|SMARCD2_uc010dea.1_Missense_Mutation_p.V69A|SMARCD2_uc010dec.1_Missense_Mutation_p.V123A	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	144					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62135346T>C	uc002jdz.2	-	12	1327	c.1214A>G	c.(1213-1215)AAC>AGC	p.N405S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	405	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62290313	62290313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62290313T>C	uc002jec.2	-	2	1438	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	TEX2_uc002jed.2_Missense_Mutation_p.Y422C|TEX2_uc002jee.2_Missense_Mutation_p.Y422C	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	422					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)														---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492909	62492909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62492909G>A	uc002jei.2	-	1	261	c.178C>T	c.(178-180)CCC>TCC	p.P60S	POLG2_uc010deg.1_Missense_Mutation_p.P60S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	60					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62496396	62496396	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62496396T>C	uc002jek.2	-	13	1737	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	DDX5_uc010deh.2_Missense_Mutation_p.Y497C|DDX5_uc002jej.2_Missense_Mutation_p.Y392C|DDX5_uc010wqa.1_Missense_Mutation_p.Y418C	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	497					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---
CCDC45	90799	broad.mit.edu	37	17	62523239	62523239	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62523239G>T	uc002jem.2	+	11	1221	c.1163G>T	c.(1162-1164)AGT>ATT	p.S388I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.S224I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	388						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)															---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62855980	62855980	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62855980A>G	uc002jey.2	-	11	4815	c.4284T>C	c.(4282-4284)GCT>GCC	p.A1428A	LRRC37A3_uc010wqg.1_Silent_p.A546A|LRRC37A3_uc002jex.1_Silent_p.A405A|LRRC37A3_uc010wqf.1_Silent_p.A466A|LRRC37A3_uc010dek.1_Silent_p.A434A	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1428	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856650	62856650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62856650C>T	uc002jey.2	-	11	4145	c.3614G>A	c.(3613-3615)AGG>AAG	p.R1205K	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R323K|LRRC37A3_uc002jex.1_Missense_Mutation_p.R182K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R243K|LRRC37A3_uc010dek.1_Missense_Mutation_p.R211K	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1205	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62893387	62893387	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62893387C>T	uc002jey.2	-	3					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372			leucine rich repeat containing 37, member A3							integral to membrane					0																		---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221501	63221501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63221501G>A	uc002jfe.2	+	18	1899	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RGS9_uc010dem.2_Missense_Mutation_p.A594T|RGS9_uc002jfd.2_Missense_Mutation_p.A594T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A368T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	597					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63533080	63533080	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63533080G>A	uc002jfi.2	-	7	2103	c.1814C>T	c.(1813-1815)GCC>GTC	p.A605V	AXIN2_uc002jfh.2_Intron	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	605				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2														Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				---	---	---	---
CACNG1	786	broad.mit.edu	37	17	65040890	65040890	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65040890C>T	uc002jfu.2	+	1	185	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	38					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)													---	---	---	---
NOL11	25926	broad.mit.edu	37	17	65722767	65722767	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65722767A>G	uc002jgd.1	+						NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_Intron	NM_015462	NP_056277			nucleolar protein 11							nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040035	66040035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040035G>A	uc002jgk.2	+	8	1144	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	KPNA2_uc002jgl.2_Missense_Mutation_p.A338T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	338	ARM 7.|NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66416413	66416413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66416413G>A	uc002jhc.2	+	12	2183	c.1387G>A	c.(1387-1389)GCA>ACA	p.A463T	ARSG_uc002jhb.1_Missense_Mutation_p.A299T|ARSG_uc010dex.1_RNA	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	463					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66551755	66551755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66551755G>A	uc002jho.2	-	2	822	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FAM20A_uc010wqp.1_Silent_p.S40S|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	178						extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67041327	67041327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67041327T>C	uc002jhu.2	-	4	598	c.455A>G	c.(454-456)CAC>CGC	p.H152R	ABCA9_uc010dez.2_Missense_Mutation_p.H152R|ABCA9_uc002jhv.2_Missense_Mutation_p.H152R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	152					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67047255	67047255	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67047255G>A	uc002jhu.2	-	2	156	c.13C>T	c.(13-15)CGC>TGC	p.R5C	ABCA9_uc010dez.2_Missense_Mutation_p.R5C|ABCA9_uc002jhv.2_Missense_Mutation_p.R5C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	5					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67250502	67250502	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67250502C>T	uc002jif.2	-	31	5416	c.4198G>A	c.(4198-4200)GCT>ACT	p.A1400T	ABCA5_uc002jib.2_Missense_Mutation_p.A366T|ABCA5_uc002jic.2_Missense_Mutation_p.A623T|ABCA5_uc002jid.2_Missense_Mutation_p.A317T|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1400T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1400	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67293435	67293435	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67293435T>G	uc002jif.2	-	9	2551	c.1333A>C	c.(1333-1335)AGA>CGA	p.R445R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.R445R|ABCA5_uc002jih.2_Silent_p.R445R|ABCA5_uc010dfe.2_Silent_p.R445R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	445					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71166456	71166456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71166456G>A	uc002jje.2	+	2	1358	c.998G>A	c.(997-999)AGC>AAC	p.S333N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	333	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
COG1	9382	broad.mit.edu	37	17	71199167	71199167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71199167T>C	uc002jjg.2	+	8	2138	c.2102T>C	c.(2101-2103)TTA>TCA	p.L701S	COG1_uc002jjh.2_Missense_Mutation_p.L701S|COG1_uc002jjf.1_Missense_Mutation_p.L701S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	701					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
C17orf80	55028	broad.mit.edu	37	17	71239049	71239049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71239049A>G	uc002jjm.3	+	5	1830	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	C17orf80_uc010wqu.1_Missense_Mutation_p.N510D|C17orf80_uc010dfj.2_Missense_Mutation_p.N510D|C17orf80_uc002jjk.1_Missense_Mutation_p.N546D|C17orf80_uc002jjl.3_Missense_Mutation_p.N510D	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	546	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
RPL38	6169	broad.mit.edu	37	17	72205978	72205978	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72205978A>G	uc002jjz.2	+	5					RPL38_uc002jka.2_3'UTR	NM_000999	NP_000990			ribosomal protein L38						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72227099	72227099	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72227099G>T	uc002jkc.2	+	3	406	c.375G>T	c.(373-375)TTG>TTT	p.L125F	TTYH2_uc010wqw.1_Missense_Mutation_p.L104F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	125	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72249893	72249893	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72249893G>A	uc002jkc.2	+	13	1477	c.1446_splice	c.e13-1	p.M482_splice	TTYH2_uc010wqw.1_Splice_Site_p.M461_splice|TTYH2_uc002jkd.2_Splice_Site_p.M161_splice	NM_032646	NP_116035			tweety 2 isoform 1							chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72340925	72340925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72340925A>G	uc002jkm.3	+	7	746	c.608A>G	c.(607-609)AAC>AGC	p.N203S	KIF19_uc002jkj.2_Missense_Mutation_p.N203S|KIF19_uc002jkk.2_Missense_Mutation_p.N161S|KIF19_uc002jkl.2_Missense_Mutation_p.N161S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	203	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72351389	72351389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72351389G>T	uc002jkm.3	+	20	3073	c.2935G>T	c.(2935-2937)GGG>TGG	p.G979W		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	979					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368331	72368331	+	Silent	SNP	C	T	T	rs146060702		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72368331C>T	uc010wqy.1	+	4	981	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GPR142_uc010wqx.1_Silent_p.G239G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	327	Helical; Name=5; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
NAT9	26151	broad.mit.edu	37	17	72768367	72768367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72768367C>T	uc002jlq.2	-	5	458	c.384G>A	c.(382-384)ATG>ATA	p.M128I	NAT9_uc002jlr.2_Missense_Mutation_p.M127I	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	128	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0																		---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72861880	72861880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72861880G>A	uc002jly.2	-	6	657	c.570C>T	c.(568-570)GAC>GAT	p.D190D	FDXR_uc010wri.1_Silent_p.D138D|FDXR_uc010wrj.1_Silent_p.D188D|FDXR_uc002jlw.2_Translation_Start_Site|FDXR_uc002jlx.2_Silent_p.D190D|FDXR_uc002jmc.2_Silent_p.D191D|FDXR_uc010wrk.1_Silent_p.D221D|FDXR_uc010wrl.1_Silent_p.D233D|FDXR_uc002jma.2_Silent_p.D191D|FDXR_uc010wrm.1_Silent_p.D150D|FDXR_uc002jlz.2_Silent_p.D182D|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	190					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72862566	72862566	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72862566A>G	uc002jly.2	-	4	480	c.393_splice	c.e4+1	p.L131_splice	FDXR_uc010wri.1_Splice_Site_p.L79_splice|FDXR_uc010wrj.1_Splice_Site_p.L129_splice|FDXR_uc002jlw.2_Splice_Site|FDXR_uc002jlx.2_Splice_Site_p.L131_splice|FDXR_uc002jmc.2_Splice_Site_p.L132_splice|FDXR_uc010wrk.1_Splice_Site_p.L162_splice|FDXR_uc010wrl.1_Splice_Site_p.L174_splice|FDXR_uc002jma.2_Splice_Site_p.L132_splice|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Splice_Site_p.L123_splice|FDXR_uc002jmb.2_Splice_Site	NM_024417	NP_077728			ferredoxin reductase isoform 1 precursor						cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
OTOP3	347741	broad.mit.edu	37	17	72943337	72943337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72943337G>A	uc010wrr.1	+	6	1387	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	OTOP3_uc010wrq.1_Missense_Mutation_p.A445T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	463	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)																	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73089824	73089824	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73089824C>T	uc002jmr.2	+	3	465	c.93C>T	c.(91-93)CCC>CCT	p.P31P	SLC16A5_uc002jms.1_Silent_p.P31P|SLC16A5_uc002jmt.2_Silent_p.P31P|SLC16A5_uc002jmu.2_Silent_p.P31P|SLC16A5_uc010wrt.1_Silent_p.P71P	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	31	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)													---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73237473	73237473	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73237473C>A	uc002jni.1	-						GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Intron|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Intron	NM_138619	NP_619525			ADP-ribosylation factor binding protein 3						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73240709	73240709	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73240709G>A	uc002jni.1	-	4	300	c.291C>T	c.(289-291)GTC>GTT	p.V97V	GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Silent_p.V25V|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Silent_p.V25V|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	97	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73664707	73664707	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73664707T>C	uc002jpe.2	+	2	270	c.216_splice	c.e2+2	p.S72_splice	RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Splice_Site_p.S72_splice|SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Splice_Site|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.S72_splice	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73700897	73700897	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73700897A>G	uc002jpe.2	+						SAP30BP_uc002jpc.1_Intron|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_Intron|SAP30BP_uc002jpf.2_Intron	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73720778	73720778	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73720778A>G	uc002jpg.2	+	2					ITGB4_uc002jph.2_5'UTR|ITGB4_uc010dgo.2_5'UTR|ITGB4_uc002jpi.3_5'UTR|ITGB4_uc010dgp.1_5'UTR|ITGB4_uc002jpj.2_5'UTR	NM_000213	NP_000204			integrin beta 4 isoform 1 precursor						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73831532	73831532	+	Silent	SNP	G	A	A	rs143190205		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73831532G>A	uc002jpp.2	-	20	2186	c.1806C>T	c.(1804-1806)AAC>AAT	p.N602N	UNC13D_uc010wsk.1_Silent_p.N602N|UNC13D_uc002jpq.1_Silent_p.N252N	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	602	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)											Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73956385	73956385	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73956385T>C	uc002jqf.2	-						ACOX1_uc010wsq.1_Missense_Mutation_p.Q76R|ACOX1_uc002jqe.2_Missense_Mutation_p.Q114R|ACOX1_uc010wsr.1_Missense_Mutation_p.Q46R	NM_007292	NP_009223			acyl-Coenzyme A oxidase 1 isoform b						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CDK3	1018	broad.mit.edu	37	17	73998612	73998612	+	Silent	SNP	C	T	T	rs61747000	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73998612C>T	uc010dgt.2	+	6	583	c.507C>T	c.(505-507)CGC>CGT	p.R169R	CDK3_uc002jqg.3_Silent_p.R197R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003870	74003870	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74003870G>A	uc002jqi.2	-	22	5644	c.5416C>T	c.(5416-5418)CCC>TCC	p.P1806S	EVPL_uc010wss.1_Missense_Mutation_p.P1828S|EVPL_uc010wst.1_Missense_Mutation_p.P1276S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1806	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74013872	74013872	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74013872A>T	uc002jqi.2	-	14	1886	c.1658T>A	c.(1657-1659)CTG>CAG	p.L553Q	EVPL_uc010wss.1_Missense_Mutation_p.L575Q|EVPL_uc010wst.1_Missense_Mutation_p.L23Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	553	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163130	74163130	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163130G>T	uc002jqz.2	-	5	590	c.521C>A	c.(520-522)CCC>CAC	p.P174H	RNF157_uc002jra.2_Missense_Mutation_p.P174H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	174							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163886	74163886	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163886A>G	uc002jqz.2	-						RNF157_uc002jra.2_Intron	NM_052916	NP_443148			ring finger protein 157								zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74307730	74307730	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74307730T>C	uc010wta.1	-	10	1497	c.1051A>G	c.(1051-1053)AAG>GAG	p.K351E	PRPSAP1_uc010wtb.1_Missense_Mutation_p.K248E	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	322					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1																		---	---	---	---
SPHK1	8877	broad.mit.edu	37	17	74383020	74383020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74383020G>A	uc002jrf.1	+	8	1317	c.508G>A	c.(508-510)GCC>ACC	p.A170T	SPHK1_uc002jrg.1_Missense_Mutation_p.A119T|SPHK1_uc002jrh.2_Missense_Mutation_p.A184T|SPHK1_uc002jrj.2_Missense_Mutation_p.A256T|SPHK1_uc002jri.2_Missense_Mutation_p.A170T|SPHK1_uc002jrk.3_Missense_Mutation_p.A170T|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	170					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74387043	74387043	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74387043T>C	uc002jrm.3	-	18	3925	c.3860A>G	c.(3859-3861)GAG>GGG	p.E1287G	UBE2O_uc002jrl.3_Missense_Mutation_p.E891G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1287							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394418	74394418	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74394418T>C	uc002jrm.3	-	12	2008	c.1943A>G	c.(1942-1944)CAC>CGC	p.H648R	UBE2O_uc002jrn.3_Missense_Mutation_p.H648R|UBE2O_uc002jrl.3_Missense_Mutation_p.H251R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74395720	74395720	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74395720C>T	uc002jrm.3	-	9	1503	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	UBE2O_uc002jrn.3_Missense_Mutation_p.A480T|UBE2O_uc002jrl.3_Missense_Mutation_p.A83T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	480							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75209491	75209491	+	Silent	SNP	C	T	T	rs143199360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75209491C>T	uc002jto.2	+	16	2226	c.1959C>T	c.(1957-1959)GAC>GAT	p.D653D	SEC14L1_uc010dhc.2_Silent_p.D653D|SEC14L1_uc010wth.1_Silent_p.D653D|SEC14L1_uc002jtm.2_Silent_p.D653D|SEC14L1_uc010wti.1_Silent_p.D619D|SEC14L1_uc010wtj.1_Nonsense_Mutation_p.R142*|SEC14L1_uc002jtr.2_Silent_p.D47D	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	653	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75210055	75210055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75210055G>A	uc002jto.2	+	17	2365	c.2098G>A	c.(2098-2100)GCC>ACC	p.A700T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A700T|SEC14L1_uc010wth.1_Missense_Mutation_p.A700T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A700T|SEC14L1_uc010wti.1_Missense_Mutation_p.A666T|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	700					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEPT9	10801	broad.mit.edu	37	17	75478396	75478396	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75478396G>A	uc002jts.3	+	4	1018	c.892G>A	c.(892-894)GAG>AAG	p.E298K	SEPT9_uc010wtk.1_Missense_Mutation_p.E279K|SEPT9_uc002jtt.3_Missense_Mutation_p.E134K|SEPT9_uc002jtu.3_Missense_Mutation_p.E280K|SEPT9_uc002jtv.2_Missense_Mutation_p.E291K|SEPT9_uc002jtw.2_Missense_Mutation_p.E134K|SEPT9_uc002jtx.1_Missense_Mutation_p.E134K|SEPT9_uc010wtl.1_Missense_Mutation_p.E74K|SEPT9_uc002jty.3_Missense_Mutation_p.E47K|SEPT9_uc010wtm.1_Missense_Mutation_p.E47K|SEPT9_uc010wtn.1_Missense_Mutation_p.E47K|SEPT9_uc010dhd.2_Missense_Mutation_p.E186K	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	298					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)															---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046762	76046762	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76046762C>T	uc002jud.2	+	4	2219	c.1619C>T	c.(1618-1620)TCG>TTG	p.S540L	TNRC6C_uc002juf.2_Missense_Mutation_p.S540L|TNRC6C_uc002jue.2_Missense_Mutation_p.S540L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	540	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---
TMC8	147138	broad.mit.edu	37	17	76128901	76128901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76128901C>T	uc002jup.2	+	5	863	c.481C>T	c.(481-483)CCT>TCT	p.P161S	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	161	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)											Epidermodysplasia_Verruciformis_Familial_Clustering_of				---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76471424	76471424	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76471424T>C	uc002jvs.2	-											Homo sapiens mRNA for DNAH17 variant protein, partial cds.											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76968044	76968044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76968044A>G	uc002jwh.2	-	6	1551	c.1372T>C	c.(1372-1374)TAC>CAC	p.Y458H	LGALS3BP_uc002jwi.2_Missense_Mutation_p.Y264H|LGALS3BP_uc010dhr.2_Missense_Mutation_p.Y264H	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	458					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)													OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77770303	77770303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77770303A>G	uc002jxd.1	-	2	199	c.106T>C	c.(106-108)TCG>CCG	p.S36P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	36	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77807929	77807929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77807929C>T	uc002jxe.2	-	5	1675	c.1512G>A	c.(1510-1512)GCG>GCA	p.A504A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78069165	78069165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78069165G>A	uc010dht.2	+	18	2963	c.2936G>A	c.(2935-2937)CGC>CAC	p.R979H	CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	979					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78195462	78195462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78195462C>T	uc002jyb.1	+	3	372	c.103C>T	c.(103-105)CCC>TCC	p.P35S	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.P35S|SLC26A11_uc002jyd.1_Missense_Mutation_p.P35S|SLC26A11_uc010dhv.1_Missense_Mutation_p.P35S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	35	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	78280153	78280153	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78280153T>C	uc002jyf.2	+	12	2455	c.2312T>C	c.(2311-2313)GTT>GCT	p.V771A	uc002jyg.1_Missense_Mutation_p.V502A	NM_020954	NP_066005			hypothetical protein LOC57714																														---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78314040	78314040	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78314040C>T	uc002jyh.1	+	1	315	c.92C>T	c.(91-93)GCC>GTC	p.A31V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78317653	78317653	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78317653T>A	uc002jyh.1	+							NM_020914	NP_065965			ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78318781	78318781	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318781C>T	uc002jyh.1	+	4	1088	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321547	78321547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321547G>A	uc002jyh.1	+	4	3854	c.3631G>A	c.(3631-3633)GTC>ATC	p.V1211I		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321938	78321938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321938T>C	uc002jyh.1	+	4	4245	c.4022T>C	c.(4021-4023)GTC>GCC	p.V1341A		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78343340	78343340	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78343340G>A	uc002jyh.1	+	20	6636	c.6413G>A	c.(6412-6414)TGC>TAC	p.C2138Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C520Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78360533	78360533	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78360533A>C	uc002jyh.1	+	38	9206	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
AZI1	22994	broad.mit.edu	37	17	79177336	79177336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79177336G>A	uc002jzp.1	-	6	787	c.587C>T	c.(586-588)GCG>GTG	p.A196V	AZI1_uc002jzn.1_Missense_Mutation_p.A196V|AZI1_uc002jzo.1_Missense_Mutation_p.A196V|AZI1_uc010wum.1_Missense_Mutation_p.A196V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	196					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79226324	79226324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79226324G>A	uc002jzz.1	-	13	1991	c.1616C>T	c.(1615-1617)GCG>GTG	p.A539V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A457V|SLC38A10_uc002kab.2_Missense_Mutation_p.A539V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	539					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79254484	79254484	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79254484C>A	uc002jzz.1	-	6	926	c.551G>T	c.(550-552)CGG>CTG	p.R184L	SLC38A10_uc002jzy.1_Missense_Mutation_p.R102L|SLC38A10_uc002kab.2_Missense_Mutation_p.R184L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	184					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79384943	79384943	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79384943G>A	uc002kaf.2	+							NM_001080519	NP_001073988			BAH domain and coiled-coil containing 1								DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)															---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79687071	79687071	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79687071G>T	uc002kbi.2	+	11	914	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	SLC25A10_uc010wut.1_Missense_Mutation_p.Q431H|SLC25A10_uc010dif.2_Missense_Mutation_p.Q285H|SLC25A10_uc010wuu.1_Missense_Mutation_p.Q230H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	276	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)													---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79803083	79803083	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79803083G>A	uc002kbn.1	-	10	1580	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	P4HB_uc002kbl.1_Silent_p.R138R|P4HB_uc002kbm.1_Silent_p.R138R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	461	Thioredoxin 2.	Lowers pKa of C-terminal Cys of second active site (By similarity).			cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79804462	79804462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79804462C>T	uc002kbn.1	-	7	1096	c.899G>A	c.(898-900)CGC>CAC	p.R300H	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	300					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
ARHGDIA	396	broad.mit.edu	37	17	79826767	79826767	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79826767C>A	uc002kbp.2	-	5	639	c.600G>T	c.(598-600)AAG>AAT	p.K200N	ARHGDIA_uc002kjk.1_Missense_Mutation_p.K75N|ARHGDIA_uc002kbq.2_Missense_Mutation_p.K200N|ARHGDIA_uc002kbr.2_Missense_Mutation_p.R173M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Intron	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	200					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79873553	79873553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79873553G>A	uc002kcj.1	-	4	374	c.341C>T	c.(340-342)GCG>GTG	p.A114V	SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_Missense_Mutation_p.A32V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	114	Deacetylase sirtuin-type.|NAD (By similarity).				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
RAC3	5881	broad.mit.edu	37	17	79990609	79990609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79990609G>A	uc002kdf.2	+	3	236	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	44					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80011878	80011878	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80011878C>T	uc002kdl.1	+	3	306	c.261C>T	c.(259-261)AAC>AAT	p.N87N	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Silent_p.N127N|GPS1_uc010dij.1_Silent_p.N127N|GPS1_uc002kdm.1_Silent_p.N71N|GPS1_uc002kdn.1_Silent_p.N87N|GPS1_uc002kdo.1_Silent_p.N87N|GPS1_uc010wvh.1_Silent_p.N79N	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	87					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80014394	80014394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80014394T>C	uc002kdl.1	+	10	1141	c.1096T>C	c.(1096-1098)TAC>CAC	p.Y366H	GPS1_uc002kdk.1_Missense_Mutation_p.Y402H|GPS1_uc010dij.1_Missense_Mutation_p.Y401H|GPS1_uc002kdm.1_Missense_Mutation_p.Y346H|GPS1_uc002kdn.1_Missense_Mutation_p.Y362H|GPS1_uc002kdo.1_Missense_Mutation_p.Y365H|GPS1_uc010wvh.1_Missense_Mutation_p.Y358H	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	366	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80136446	80136446	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80136446T>C	uc002kdz.1	-	11	1765	c.1410A>G	c.(1408-1410)CTA>CTG	p.L470L	CCDC57_uc002kdx.1_Silent_p.L470L|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	470	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80159603	80159603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80159603C>T	uc002kdz.1	-	3	573	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CCDC57_uc002kdx.1_Missense_Mutation_p.R73H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	73	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
C17orf62	79415	broad.mit.edu	37	17	80402405	80402405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80402405C>T	uc002kez.2	-	5	409	c.361G>A	c.(361-363)GGG>AGG	p.G121R	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G121R|C17orf62_uc010dir.2_Missense_Mutation_p.G121R|C17orf62_uc002kfb.3_Missense_Mutation_p.G121R|C17orf62_uc002kfc.3_Missense_Mutation_p.G107R|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	121						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
NARF	26502	broad.mit.edu	37	17	80441653	80441653	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80441653T>G	uc002kfg.3	+	8	971	c.831T>G	c.(829-831)ACT>ACG	p.T277T	NARF_uc002kff.3_Silent_p.T218T|NARF_uc010wvp.1_Silent_p.T149T|NARF_uc010dit.2_Silent_p.T323T|NARF_uc002kfj.3_Silent_p.T229T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.T323T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	277						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80861301	80861301	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
THOC1	9984	broad.mit.edu	37	18	214854	214854	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:214854A>C	uc002kkj.3	-	21	1786	c.1746T>G	c.(1744-1746)GGT>GGG	p.G582G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Silent_p.G206G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	582	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	480755	480755	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:480755C>T	uc002kkm.2	-	2	225	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	4	Cytoplasmic (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580531	580531	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:580531C>T	uc002kko.1	+	1	165	c.123C>T	c.(121-123)GAC>GAT	p.D41D		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	41	1 (Probable).|EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TYMS	7298	broad.mit.edu	37	18	659673	659673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:659673T>C	uc010dka.1	+	2	377	c.238T>C	c.(238-240)TTC>CTC	p.F80L	C18orf56_uc002kkr.2_5'Flank|TYMS_uc010dkb.1_Missense_Mutation_p.F80L|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	80					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)													---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2885039	2885039	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2885039G>T	uc002kln.2	+	3	494	c.335G>T	c.(334-336)GGC>GTC	p.G112V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	112	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2937687	2937687	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2937687T>C	uc002klo.2	-							NM_014646	NP_055461			lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)														---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3142042	3142042	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3142042G>A	uc002klp.2	-	14	2254	c.1920C>T	c.(1918-1920)CCC>CCT	p.P640P	MYOM1_uc002klq.2_Silent_p.P640P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	640	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879483	3879483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3879483T>C	uc002kmf.2	-	1	653	c.586A>G	c.(586-588)AGC>GGC	p.S196G	DLGAP1_uc010wyz.1_Missense_Mutation_p.S196G|DLGAP1_uc002kmk.2_Missense_Mutation_p.S196G|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	196					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
ZFP161	7541	broad.mit.edu	37	18	5291330	5291330	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5291330T>C	uc002kmq.2	-	4	1038	c.877A>G	c.(877-879)AGG>GGG	p.R293G	ZFP161_uc002kmr.2_Missense_Mutation_p.R293G|ZFP161_uc010dkp.2_Missense_Mutation_p.R293G	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	293	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395110	5395110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5395110T>C	uc002kmt.1	-	21	3195	c.3109A>G	c.(3109-3111)AAG>GAG	p.K1037E	EPB41L3_uc010wzh.1_Missense_Mutation_p.K868E|EPB41L3_uc002kmu.1_Missense_Mutation_p.K815E|EPB41L3_uc010dkq.1_Missense_Mutation_p.K706E|EPB41L3_uc002kms.1_Missense_Mutation_p.K272E|EPB41L3_uc010wze.1_Missense_Mutation_p.K342E|EPB41L3_uc010wzf.1_Missense_Mutation_p.K334E|EPB41L3_uc010wzg.1_Missense_Mutation_p.K309E|EPB41L3_uc010dkr.2_Missense_Mutation_p.K429E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1037	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5969507	5969507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5969507G>A	uc002kmz.3	-	18	1686	c.1526C>T	c.(1525-1527)ACG>ATG	p.T509M	L3MBTL4_uc010dkt.2_Missense_Mutation_p.T509M|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T338M	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	509					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6239717	6239717	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6239717C>A	uc002kmz.3	-	9	867	c.707G>T	c.(706-708)TGG>TTG	p.W236L	L3MBTL4_uc010dkt.2_Missense_Mutation_p.W236L|L3MBTL4_uc002kmy.3_Missense_Mutation_p.W74L	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	236	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943249	6943249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6943249G>A	uc002knm.2	-	62	9091	c.8997C>T	c.(8995-8997)GGC>GGT	p.G2999G	LAMA1_uc002knk.2_Silent_p.G329G|LAMA1_uc002knl.2_Silent_p.G452G|LAMA1_uc010wzj.1_Silent_p.G2475G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2999	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6949194	6949194	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949194A>G	uc002knm.2	-	59	8556	c.8462T>C	c.(8461-8463)GTG>GCG	p.V2821A	LAMA1_uc002knk.2_Missense_Mutation_p.V151A|LAMA1_uc002knl.2_Missense_Mutation_p.V274A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2297A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2821	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7049169	7049169	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049169G>A	uc002knm.2	-	5	770	c.676C>T	c.(676-678)CTT>TTT	p.L226F	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	226	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8069784	8069784	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8069784C>T	uc002knn.3	+	8	1736	c.1233C>T	c.(1231-1233)CAC>CAT	p.H411H	PTPRM_uc010dkv.2_Silent_p.H411H|PTPRM_uc010wzl.1_Silent_p.H198H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	411	Fibronectin type-III 2.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8370924	8370924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8370924A>T	uc002knn.3	+	22	3555	c.3052A>T	c.(3052-3054)ATA>TTA	p.I1018L	PTPRM_uc010dkv.2_Missense_Mutation_p.I1031L|PTPRM_uc010wzl.1_Missense_Mutation_p.I805L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1018	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8376167	8376167	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8376167C>T	uc002knn.3	+	23	3759	c.3256C>T	c.(3256-3258)CCC>TCC	p.P1086S	PTPRM_uc010dkv.2_Missense_Mutation_p.P1099S|PTPRM_uc010wzl.1_Missense_Mutation_p.P873S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1086	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9211676	9211676	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9211676T>C	uc002knv.2	+	6	803	c.546T>C	c.(544-546)AAT>AAC	p.N182N	ANKRD12_uc010wzn.1_Silent_p.N182N|ANKRD12_uc002knw.2_Silent_p.N159N|ANKRD12_uc002knx.2_Silent_p.N159N	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	182						nucleus				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9522203	9522203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9522203A>G	uc002kob.2	+	4	972	c.749A>G	c.(748-750)GAG>GGG	p.E250G	RALBP1_uc002koc.2_Missense_Mutation_p.E250G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	250	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9535901	9535901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9535901C>T	uc002kob.2	+	10	2157	c.1934C>T	c.(1933-1935)TCG>TTG	p.S645L	RALBP1_uc002koc.2_Missense_Mutation_p.S645L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	645					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10671647	10671647	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10671647T>G	uc002kor.3	-	14	2147	c.2007A>C	c.(2005-2007)ACA>ACC	p.T669T	FAM38B_uc002koq.2_Silent_p.T504T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2712						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10696277	10696277	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10696277C>T	uc002kor.3	-	5	657	c.517G>A	c.(517-519)GCA>ACA	p.A173T	FAM38B_uc002koq.2_Missense_Mutation_p.A71T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2216						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
CIDEA	1149	broad.mit.edu	37	18	12274124	12274124	+	Silent	SNP	G	A	A	rs148408713		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12274124G>A	uc002kqt.3	+	4	428	c.363G>A	c.(361-363)CCG>CCA	p.P121P	CIDEA_uc002kqu.3_Silent_p.P155P|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	121					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12367305	12367305	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12367305A>G	uc002kqz.1	-	4	482	c.369T>C	c.(367-369)GAT>GAC	p.D123D		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	123					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)													---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678171	12678171	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12678171G>A	uc002kri.2	-	10	1716	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.D342D|CEP76_uc010wzz.1_Silent_p.D445D	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	520					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12699092	12699092	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12699092A>T	uc002kri.2	-	4	562	c.406T>A	c.(406-408)TTT>ATT	p.F136I	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	136					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
PSMG2	56984	broad.mit.edu	37	18	12724555	12724555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12724555C>T	uc002krk.2	+	6	682	c.639C>T	c.(637-639)AAC>AAT	p.N213N	PSMG2_uc002krg.2_Silent_p.N182N|PSMG2_uc002krj.1_Silent_p.N213N	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	213					proteasome assembly	nucleus	protein binding				0																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13087145	13087145	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13087145C>T	uc010xac.1	+	31	5826	c.5746C>T	c.(5746-5748)CGC>TGC	p.R1916C	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1441C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R338C|CEP192_uc002krw.2_Missense_Mutation_p.R65C|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1916										ovary(4)|pancreas(1)	5																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13099478	13099478	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13099478T>C	uc010xac.1	+	37	6641	c.6561T>C	c.(6559-6561)AGT>AGC	p.S2187S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S1712S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.S609S|CEP192_uc002krw.2_Silent_p.S336S|CEP192_uc002krx.2_Silent_p.S191S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2187										ovary(4)|pancreas(1)	5																		---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13438344	13438344	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13438344C>G	uc002ksa.2	+	4	810	c.142C>G	c.(142-144)CTC>GTC	p.L48V	C18orf1_uc002ksb.2_Missense_Mutation_p.L48V	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	48	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13645246	13645246	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13645246A>G	uc002ksa.2	+	7	1179	c.511A>G	c.(511-513)ACC>GCC	p.T171A	C18orf1_uc002ksb.2_Missense_Mutation_p.T153A|C18orf1_uc002kse.2_Missense_Mutation_p.T134A|C18orf1_uc002ksf.2_Missense_Mutation_p.T116A|C18orf1_uc002ksg.1_Missense_Mutation_p.T94A|C18orf1_uc002ksh.1_Missense_Mutation_p.T113A|C18orf1_uc002ksi.1_Missense_Mutation_p.T95A	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	171	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf19	125228	broad.mit.edu	37	18	13681828	13681828	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13681828A>T	uc010dlh.2	-	3	681	c.249T>A	c.(247-249)CAT>CAA	p.H83Q	C18orf19_uc010dlg.2_Missense_Mutation_p.H83Q|C18orf19_uc010dli.2_Missense_Mutation_p.H83Q|C18orf19_uc002ksj.3_Missense_Mutation_p.H83Q|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	83						integral to membrane				breast(2)	2																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13734595	13734595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13734595A>G	uc002ksk.1	+	3	617	c.550A>G	c.(550-552)ATT>GTT	p.I184V	RNMT_uc002ksl.1_Missense_Mutation_p.I184V|RNMT_uc002ksm.1_Missense_Mutation_p.I184V|RNMT_uc010dlk.2_Missense_Mutation_p.I184V|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	184					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13742637	13742637	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13742637T>C	uc002ksk.1	+	7	1192	c.1125T>C	c.(1123-1125)TTT>TTC	p.F375F	RNMT_uc002ksl.1_Silent_p.F375F|RNMT_uc002ksm.1_Silent_p.F375F|RNMT_uc010dlk.2_Silent_p.F375F|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	375					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
SNRPD1	6632	broad.mit.edu	37	18	19203854	19203854	+	Silent	SNP	A	G	G	rs141663553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19203854A>G	uc002ktj.1	+	3	368	c.237A>G	c.(235-237)CTA>CTG	p.L79L		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0																		---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19762796	19762796	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19762796A>T	uc002ktt.1	+	5	1772	c.1507A>T	c.(1507-1509)ACT>TCT	p.T503S	GATA6_uc002ktu.1_Missense_Mutation_p.T503S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	503					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)															---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20814617	20814617	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:20814617T>C	uc002kuc.2	+	5	1134	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Silent_p.S113S	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	378	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
C18orf8	29919	broad.mit.edu	37	18	21109232	21109232	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21109232C>T	uc010xax.1	+	16	1507	c.1386C>T	c.(1384-1386)ACC>ACT	p.T462T	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Silent_p.T86T|NPC1_uc010dlu.1_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	462										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413846	21413846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413846G>A	uc002kuq.2	+	24	2964	c.2878G>A	c.(2878-2880)GTC>ATC	p.V960I	LAMA3_uc002kur.2_Missense_Mutation_p.V960I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	960	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413908	21413908	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413908G>A	uc002kuq.2	+	24	3026	c.2940G>A	c.(2938-2940)GGG>GGA	p.G980G	LAMA3_uc002kur.2_Silent_p.G980G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	980	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21496586	21496586	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21496586C>T	uc002kuq.2	+	60	7936	c.7850C>T	c.(7849-7851)GCT>GTT	p.A2617V	LAMA3_uc002kur.2_Missense_Mutation_p.A2561V|LAMA3_uc002kus.3_Missense_Mutation_p.A1008V|LAMA3_uc002kut.3_Missense_Mutation_p.A952V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2617	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21501490	21501490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21501490T>C	uc002kuq.2	+	62	8204	c.8118T>C	c.(8116-8118)GGT>GGC	p.G2706G	LAMA3_uc002kur.2_Silent_p.G2650G|LAMA3_uc002kus.3_Silent_p.G1097G|LAMA3_uc002kut.3_Silent_p.G1041G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2706	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21508129	21508129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21508129T>A	uc002kuq.2	+	63	8306	c.8220T>A	c.(8218-8220)AAT>AAA	p.N2740K	LAMA3_uc002kur.2_Missense_Mutation_p.N2684K|LAMA3_uc002kus.3_Missense_Mutation_p.N1131K|LAMA3_uc002kut.3_Missense_Mutation_p.N1075K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2740	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
CABYR	26256	broad.mit.edu	37	18	21739458	21739458	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21739458A>T	uc002kux.2	+	5					CABYR_uc010xbb.1_3'UTR|CABYR_uc002kuy.2_Silent_p.G188G|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_3'UTR|CABYR_uc002kvb.2_Silent_p.G90G|CABYR_uc002kvc.2_Silent_p.G188G|CABYR_uc010dlw.2_Intron	NM_012189	NP_036321			calcium-binding tyrosine						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)																	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21819305	21819305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21819305T>C	uc002kve.2	-	16	1497	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	OSBPL1A_uc002kvd.2_5'UTR|OSBPL1A_uc010xbc.1_Silent_p.K59K|OSBPL1A_uc002kvf.3_Silent_p.K221K	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	441	Potential.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057338	22057338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22057338T>C	uc002kvi.2	+	3	1085	c.985T>C	c.(985-987)TAT>CAT	p.Y329H	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.Y241H	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	329	Extracellular (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)													---	---	---	---
SS18	6760	broad.mit.edu	37	18	23632767	23632767	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23632767A>T	uc002kvm.2	-	5	506	c.428T>A	c.(427-429)CTC>CAC	p.L143H	SS18_uc002kvn.2_Missense_Mutation_p.L143H|SS18_uc010xbf.1_Missense_Mutation_p.L61H|SS18_uc010xbg.1_Missense_Mutation_p.L91H|SS18_uc010xbh.1_Missense_Mutation_p.L91H|SS18_uc010xbi.1_Missense_Mutation_p.L120H|SS18_uc010dlz.1_Missense_Mutation_p.L91H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	143	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23713918	23713918	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23713918T>C	uc002kvq.2	+	1					PSMA8_uc002kvo.2_5'UTR|PSMA8_uc002kvp.2_5'UTR|PSMA8_uc002kvr.2_5'UTR	NM_144662	NP_653263			proteasome alpha 8 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23738101	23738101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23738101A>G	uc002kvq.2	+	4	502	c.388A>G	c.(388-390)AAT>GAT	p.N130D	PSMA8_uc002kvo.2_Missense_Mutation_p.N86D|PSMA8_uc002kvp.2_Missense_Mutation_p.N124D|PSMA8_uc002kvr.2_Missense_Mutation_p.N98D	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23854890	23854890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23854890T>C	uc002kvu.3	+						TAF4B_uc002kvs.3_Intron|TAF4B_uc002kvt.3_Intron	NM_005640	NP_005631			TAF4b RNA polymerase II, TATA box binding						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)															---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24035751	24035751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24035751G>A	uc002kvw.2	-	5	1290	c.730C>T	c.(730-732)CGT>TGT	p.R244C	KCTD1_uc010xbj.1_Missense_Mutation_p.R852C|KCTD1_uc010xbk.1_Missense_Mutation_p.R244C|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	244					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)															---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25543415	25543415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25543415C>T	uc002kwg.2	-	15	2879	c.2420G>A	c.(2419-2421)CGA>CAA	p.R807Q	CDH2_uc010xbn.1_Missense_Mutation_p.R776Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	807	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4																		---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28986263	28986263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28986263A>G	uc002kwq.2	+	12	1995	c.1860A>G	c.(1858-1860)CAA>CAG	p.Q620Q	DSG4_uc002kwr.2_Silent_p.Q620Q	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	620	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)															---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29116236	29116236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29116236C>A	uc002kwu.3	+	11	1683	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	499	Extracellular (Potential).|Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)															---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29410886	29410886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29410886A>G	uc002kxc.3	-	29	4504	c.4140T>C	c.(4138-4140)CTT>CTC	p.L1380L	KIAA1012_uc002kxb.3_Silent_p.L1326L|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1380					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29432581	29432581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29432581G>A	uc002kxc.3	-	23	3843	c.3479C>T	c.(3478-3480)GCA>GTA	p.A1160V	KIAA1012_uc002kxb.3_Missense_Mutation_p.A1106V|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1160					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.A1160G(1)			0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29617122	29617122	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29617122T>C	uc002kxf.1	+	2	590	c.208T>C	c.(208-210)TGG>CGG	p.W70R		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	70	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29645945	29645945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29645945T>C	uc002kxf.1	+	5	967	c.585T>C	c.(583-585)AGT>AGC	p.S195S		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	195					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30349949	30349949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30349949C>A	uc002kxm.1	-	2	994	c.606G>T	c.(604-606)AAG>AAT	p.K202N		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	202						cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350377	30350377	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30350377A>T	uc002kxm.1	-	2	566	c.178T>A	c.(178-180)TCG>ACG	p.S60T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	60	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31314382	31314382	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31314382A>G	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31319679	31319679	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31319679T>A	uc010dmg.1	+	11	2366	c.2311T>A	c.(2311-2313)TCA>ACA	p.S771T	ASXL3_uc002kxq.2_Missense_Mutation_p.S478T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	771	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323514	31323514	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31323514T>A	uc010dmg.1	+	12	3757	c.3702T>A	c.(3700-3702)AAT>AAA	p.N1234K	ASXL3_uc002kxq.2_Missense_Mutation_p.N941K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31599387	31599387	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31599387C>T	uc010dmi.2	-	6	1180	c.951G>A	c.(949-951)TCG>TCA	p.S317S	NOL4_uc010xbs.1_Silent_p.S32S|NOL4_uc002kxr.3_Silent_p.S153S|NOL4_uc010xbt.1_Silent_p.S243S|NOL4_uc010dmh.2_Silent_p.S243S|NOL4_uc010xbu.1_Silent_p.S317S|NOL4_uc002kxt.3_Silent_p.S317S|NOL4_uc010xbv.1_Silent_p.S66S|NOL4_uc010xbw.1_Silent_p.S203S	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	317						nucleolus	RNA binding			ovary(3)	3																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32418700	32418700	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32418700C>A	uc010dmn.1	+						DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF396	252884	broad.mit.edu	37	18	32948335	32948335	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32948335A>T	uc010xcf.1	-	5	1114	c.982T>A	c.(982-984)TCA>ACA	p.S328T		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	Error:Variant_position_missing_in_Q96N95_after_alignment					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33266976	33266976	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33266976T>C	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
RPRD1A	55197	broad.mit.edu	37	18	33607161	33607161	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33607161A>G	uc002kzf.1	-	5	605	c.599T>C	c.(598-600)TTA>TCA	p.L200S	RPRD1A_uc002kze.1_Missense_Mutation_p.L164S|RPRD1A_uc002kzg.2_Missense_Mutation_p.L200S|RPRD1A_uc010dmw.2_Missense_Mutation_p.L164S|RPRD1A_uc010dmx.2_Missense_Mutation_p.L200S	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	200										ovary(1)|breast(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33689669	33689669	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33689669A>G	uc010dmy.2	-	10	2445	c.2155T>C	c.(2155-2157)TGT>CGT	p.C719R		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	719	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33702206	33702206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33702206T>C	uc010dmy.2	-	5	1458	c.1168A>G	c.(1168-1170)AGC>GGC	p.S390G	SLC39A6_uc002kzj.2_Missense_Mutation_p.S115G	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	390	His-rich.|Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33726313	33726313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33726313T>C	uc002kzk.1	+	11	1104	c.1094T>C	c.(1093-1095)TTG>TCG	p.L365S	ELP2_uc010xcg.1_Missense_Mutation_p.L430S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L339S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.L295S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	365	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33795876	33795876	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33795876C>G	uc002kzq.3	+	8	1756	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	578					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34205603	34205603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34205603C>T	uc002kzt.1	+	10	1184	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	FHOD3_uc002kzr.1_Missense_Mutation_p.R363C|FHOD3_uc002kzs.1_Missense_Mutation_p.R363C|FHOD3_uc002kzu.1_Missense_Mutation_p.R188C|FHOD3_uc010dmz.1_Missense_Mutation_p.R116C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	363	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
C18orf10	25941	broad.mit.edu	37	18	34398915	34398915	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34398915T>C	uc002kzw.1	-	2	535	c.107A>G	c.(106-108)GAA>GGA	p.E36G	C18orf10_uc002kzv.1_Missense_Mutation_p.E36G|C18orf10_uc010xci.1_Missense_Mutation_p.E36G|C18orf10_uc002kzx.1_Missense_Mutation_p.E36G|C18orf10_uc002kzy.3_Missense_Mutation_p.E36G	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	36						cytoplasm|microtubule				skin(1)	1																		---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39620712	39620712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39620712T>C	uc002lap.2	+						PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron|PIK3C3_uc002lar.1_Intron	NM_002647	NP_002638			catalytic phosphatidylinositol 3-kinase 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530292	42530292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42530292T>C	uc010dni.2	+	4	1283	c.987T>C	c.(985-987)CCT>CCC	p.P329P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	329						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42533228	42533228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42533228C>T	uc010dni.2	+	4	4219	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1308						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43219786	43219786	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43219786G>A	uc010dnj.2	+	8	1240	c.919G>A	c.(919-921)GTG>ATG	p.V307M	SLC14A2_uc002lbb.2_Missense_Mutation_p.V307M|SLC14A2_uc002lbe.2_Missense_Mutation_p.V307M	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	307	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43450705	43450705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43450705T>C	uc002lbm.2	-	36	6152	c.6052A>G	c.(6052-6054)AAG>GAG	p.K2018E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K572E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.K893E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2018					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43510722	43510722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43510722T>C	uc002lbm.2	-	12	2432	c.2332A>G	c.(2332-2334)ACC>GCC	p.T778A	KIAA1632_uc002lbo.1_Missense_Mutation_p.T778A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	778					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43532382	43532382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43532382A>G	uc002lbm.2	-	3	1336	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	KIAA1632_uc002lbo.1_Silent_p.I412I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	412					autophagy						0																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43577772	43577772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43577772G>A	uc002lbp.3	-	9	681	c.585C>T	c.(583-585)ATC>ATT	p.I195I	PSTPIP2_uc002lbq.3_Silent_p.I195I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	195						membrane				ovary(1)	1																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43578806	43578806	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43578806C>T	uc002lbp.3	-	8	613	c.517_splice	c.e8-1	p.L173_splice	PSTPIP2_uc002lbq.3_Splice_Site_p.L173_splice	NM_024430	NP_077748			proline-serine-threonine phosphatase interacting							membrane				ovary(1)	1																		---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43664567	43664567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43664567A>G	uc002lbr.1	-	11	1573	c.1483T>C	c.(1483-1485)TAT>CAT	p.Y495H	ATP5A1_uc010dnl.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbs.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbt.1_Missense_Mutation_p.Y495H	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	495					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0																		---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43705714	43705714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43705714C>T	uc002lbu.2	+	8	823	c.743C>T	c.(742-744)CCG>CTG	p.P248L	HAUS1_uc002lbv.2_Missense_Mutation_p.P172L	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	248					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1																		---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44470945	44470945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44470945G>A	uc002lck.2	-	2	255	c.97C>T	c.(97-99)CGC>TGC	p.R33C	PIAS2_uc010dnp.2_Translation_Start_Site|PIAS2_uc002lcl.2_Missense_Mutation_p.R33C|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R33C|PIAS2_uc002lcn.1_Missense_Mutation_p.R37C	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	33	SAP.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44559507	44559507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44559507G>A	uc002lcr.1	-	1	2482	c.2129C>T	c.(2128-2130)GCC>GTC	p.A710V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	710					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560674	44560674	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560674T>C	uc002lcr.1	-	1	1315	c.962A>G	c.(961-963)GAC>GGC	p.D321G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560714	44560714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560714G>A	uc002lcr.1	-	1	1275	c.922C>T	c.(922-924)CCT>TCT	p.P308S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	308					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561192	44561192	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561192A>G	uc002lcr.1	-	1	797	c.444T>C	c.(442-444)AGT>AGC	p.S148S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	148					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561608	44561608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561608C>T	uc002lcr.1	-	1	381	c.28G>A	c.(28-30)GCA>ACA	p.A10T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	10	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45374882	45374882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45374882G>A	uc002lcy.2	-	8	1209	c.961C>T	c.(961-963)CGA>TGA	p.R321*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.R321*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R291*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R291*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567392	45567392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45567392G>A	uc002lda.2	-	1	103	c.87C>T	c.(85-87)CAC>CAT	p.H29H	ZBTB7C_uc002ldb.2_Silent_p.H29H|ZBTB7C_uc010dnu.2_Silent_p.H38H|ZBTB7C_uc010dnv.2_Silent_p.H51H|ZBTB7C_uc010dnw.2_Silent_p.H29H|ZBTB7C_uc010dnx.1_Silent_p.H29H|ZBTB7C_uc010dny.1_Silent_p.H29H|ZBTB7C_uc010dnz.1_Silent_p.H51H|ZBTB7C_uc010dob.1_Silent_p.H29H|ZBTB7C_uc010doc.1_Silent_p.H38H|ZBTB7C_uc010dod.1_Silent_p.H51H|ZBTB7C_uc010doe.1_Silent_p.H29H|ZBTB7C_uc010dof.1_Silent_p.H29H|ZBTB7C_uc010dog.1_Silent_p.H29H|ZBTB7C_uc010doh.1_Silent_p.H38H|ZBTB7C_uc010doi.1_Silent_p.H29H|ZBTB7C_uc010doj.1_Silent_p.H38H|ZBTB7C_uc010dok.1_Silent_p.H78H|ZBTB7C_uc010dol.1_Silent_p.H38H|ZBTB7C_uc010doa.1_Silent_p.H51H|ZBTB7C_uc010don.1_Silent_p.H37H|ZBTB7C_uc010doo.1_Silent_p.H29H|ZBTB7C_uc010dop.1_Silent_p.H29H|ZBTB7C_uc010doq.1_Silent_p.H38H|ZBTB7C_uc010dor.1_Silent_p.H51H|ZBTB7C_uc010dos.1_Silent_p.H29H|ZBTB7C_uc010dot.1_Silent_p.H29H|ZBTB7C_uc010dou.1_Silent_p.H38H|ZBTB7C_uc010dom.1_Silent_p.H38H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	29						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DYM	54808	broad.mit.edu	37	18	46645179	46645179	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46645179G>A	uc002ldi.1	-	15	2046	c.1681C>T	c.(1681-1683)CGC>TGC	p.R561C	DYM_uc010xdf.1_Missense_Mutation_p.R371C|DYM_uc002ldj.3_Missense_Mutation_p.R383C	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	561						Golgi apparatus					0																		---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47320717	47320717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47320717T>C	uc002ldw.3	-	5	907	c.510A>G	c.(508-510)GTA>GTG	p.V170V	ACAA2_uc002ldx.3_Silent_p.V167V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	170					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47363953	47363953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47363953G>A	uc002leb.2	-	37	5360	c.5072C>T	c.(5071-5073)GCA>GTA	p.A1691V	MYO5B_uc002ldz.2_Missense_Mutation_p.A261V|MYO5B_uc002lea.2_Missense_Mutation_p.A806V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1691	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47406824	47406824	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47406824C>T	uc002leb.2	-	23	3335	c.3047G>A	c.(3046-3048)CGA>CAA	p.R1016Q	MYO5B_uc002lea.2_Missense_Mutation_p.R157Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1016	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R1016*(1)		ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47810331	47810331	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47810331C>A	uc002leq.3	-	10	2079	c.1346G>T	c.(1345-1347)CGC>CTC	p.R449L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R306L|CXXC1_uc002ler.3_Missense_Mutation_p.R453L|CXXC1_uc010doy.2_Missense_Mutation_p.R449L|CXXC1_uc002les.2_Missense_Mutation_p.R449L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	449	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SKA1	220134	broad.mit.edu	37	18	47917530	47917530	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47917530T>C	uc002let.2	+	6	670	c.486T>C	c.(484-486)AAT>AAC	p.N162N	SKA1_uc002leu.2_Silent_p.N162N|SKA1_uc010xdl.1_Silent_p.N116N	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	162					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48255702	48255702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48255702G>A	uc002lev.2	+	6	2242	c.1242G>A	c.(1240-1242)TCG>TCA	p.S414S	MAPK4_uc010xdm.1_Silent_p.S203S|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	414					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)														---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48603091	48603091	+	Silent	SNP	C	T	T	rs140487104	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48603091C>T	uc010xdp.1	+	11	1930	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	SMAD4_uc002lfb.3_Silent_p.A309A	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	464	Poly-Ala.|MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
DCC	1630	broad.mit.edu	37	18	50683828	50683828	+	Missense_Mutation	SNP	C	T	T	rs145985306	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50683828C>T	uc002lfe.1	+	8	1951	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DCC_uc010xdr.1_Missense_Mutation_p.A303V|DCC_uc010dpf.1_Missense_Mutation_p.A110V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
DCC	1630	broad.mit.edu	37	18	51025679	51025679	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51025679G>T	uc002lfe.1	+	27	4497	c.3910G>T	c.(3910-3912)GGA>TGA	p.G1304*	DCC_uc010dpf.1_Nonsense_Mutation_p.G937*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1304	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51731394	51731394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51731394G>A	uc002lfg.1	-	2	905	c.676C>T	c.(676-678)CGA>TGA	p.R226*	MBD2_uc002lfh.1_Nonsense_Mutation_p.R226*	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	226					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)													---	---	---	---
POLI	11201	broad.mit.edu	37	18	51807191	51807191	+	Silent	SNP	T	C	C	rs150177922		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51807191T>C	uc002lfj.3	+	5	782	c.714T>C	c.(712-714)TTT>TTC	p.F238F	POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Silent_p.F135F|POLI_uc002lfl.1_Silent_p.F170F|POLI_uc010dpg.2_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	238	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLI	11201	broad.mit.edu	37	18	51820609	51820609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51820609G>A	uc002lfj.3	+	10	2063	c.1995G>A	c.(1993-1995)GAG>GAA	p.E665E	POLI_uc010xds.1_Silent_p.E586E|POLI_uc002lfk.3_Silent_p.E562E|POLI_uc010dpg.2_Silent_p.E261E	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	665					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51887090	51887090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51887090C>T	uc002lfn.3	+	2	264	c.148C>T	c.(148-150)CAA>TAA	p.Q50*	C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q50*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	50						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)														---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52924545	52924545	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52924545C>T	uc002lfz.2	-	14	1758	c.1146_splice	c.e14+1	p.L382_splice	TCF4_uc002lfw.3_Splice_Site_p.L222_splice|TCF4_uc010xdu.1_Splice_Site_p.L252_splice|TCF4_uc010xdv.1_Splice_Site_p.L252_splice|TCF4_uc002lfx.2_Splice_Site_p.L311_splice|TCF4_uc010xdw.1_Splice_Site_p.L252_splice|TCF4_uc002lfy.2_Splice_Site_p.L340_splice|TCF4_uc010xdx.1_Splice_Site_p.L358_splice|TCF4_uc010dph.1_Splice_Site_p.L382_splice|TCF4_uc010xdy.1_Splice_Site_p.L358_splice|TCF4_uc002lga.2_Splice_Site_p.L484_splice|TCF4_uc002lgb.1_Splice_Site_p.L222_splice|TCF4_uc010dpi.2_Splice_Site_p.L388_splice|TCF4_uc002lfv.2_Splice_Site_p.L165_splice	NM_003199	NP_003190			transcription factor 4 isoform b						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)														---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54281794	54281794	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54281794T>C	uc002lgg.2	-	6	845	c.596A>G	c.(595-597)AAC>AGC	p.N199S	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.N199S|TXNL1_uc002lgj.1_Missense_Mutation_p.N199S	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	199	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54353252	54353252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54353252A>G	uc002lgk.1	+	6	797	c.586A>G	c.(586-588)AGT>GGT	p.S196G	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S196G	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	196	WD 3.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---
NARS	4677	broad.mit.edu	37	18	55287875	55287875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55287875A>G	uc002lgs.2	-	2	247	c.19T>C	c.(19-21)TAC>CAC	p.Y7H	NARS_uc002lgt.2_Missense_Mutation_p.Y6H|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.Y7H|NARS_uc010xed.1_Intron	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	7					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)													---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55919283	55919283	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55919283A>G	uc002lgy.2	+	5	568	c.294A>G	c.(292-294)AGA>AGG	p.R98R	NEDD4L_uc002lgz.2_Silent_p.R98R|NEDD4L_uc002lgx.2_Silent_p.R98R|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Silent_p.R90R|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Silent_p.R90R|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	98	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4																		---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202770	56202770	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56202770T>C	uc002lhj.3	-	5	4863	c.4649A>G	c.(4648-4650)CAC>CGC	p.H1550R	ALPK2_uc002lhk.1_Missense_Mutation_p.H881R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1550							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56587856	56587856	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56587856G>A	uc002lho.2	+	4	2884	c.2337G>A	c.(2335-2337)ACG>ACA	p.T779T	ZNF532_uc002lhp.2_Silent_p.T777T|ZNF532_uc010xeg.1_Silent_p.T777T|ZNF532_uc002lhr.2_Silent_p.T777T|ZNF532_uc002lhs.2_Silent_p.T777T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	779	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56606804	56606804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56606804C>T	uc002lho.2	+	6	3203	c.2656C>T	c.(2656-2658)CAT>TAT	p.H886Y	ZNF532_uc002lhp.2_Missense_Mutation_p.H884Y|ZNF532_uc010xeg.1_Missense_Mutation_p.H884Y|ZNF532_uc002lhr.2_Missense_Mutation_p.H884Y|ZNF532_uc002lhs.2_Missense_Mutation_p.H884Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	886	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56620892	56620892	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56620892A>G	uc002lho.2	+	8	3558	c.3011A>G	c.(3010-3012)GAA>GGA	p.E1004G	ZNF532_uc002lhp.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeg.1_Missense_Mutation_p.E1002G|ZNF532_uc002lhr.2_Missense_Mutation_p.E1002G|ZNF532_uc002lhs.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeh.1_Missense_Mutation_p.E96G	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
GRP	2922	broad.mit.edu	37	18	56892961	56892961	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56892961G>A	uc002lhv.2	+	2	475	c.377G>A	c.(376-378)GGC>GAC	p.G126D	GRP_uc002lhu.2_Intron|GRP_uc002lhw.2_Missense_Mutation_p.G126D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)																---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57006142	57006142	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57006142T>C	uc002lhz.2	-	9	1031	c.999A>G	c.(997-999)CAA>CAG	p.Q333Q		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	333	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)													---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038610	58038610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58038610G>T	uc002lie.1	-	1	1392	c.973C>A	c.(973-975)CTT>ATT	p.L325I		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	325	Cytoplasmic (Potential).		L -> F (in obesity; does not bind alpha- MSH).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59157790	59157790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59157790T>C	uc010dps.1	+	1	16	c.4T>C	c.(4-6)TGG>CGG	p.W2R	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59195450	59195450	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59195450T>A	uc010dps.1	+	6	1280	c.1268T>A	c.(1267-1269)ATC>AAC	p.I423N	CDH20_uc002lif.2_Missense_Mutation_p.I417N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483549	59483549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59483549G>A	uc002lih.1	-	2	560	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	50	RING-type.				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)																---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242140	60242140	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242140T>C	uc002lip.3	+	13	2826	c.2826T>C	c.(2824-2826)TCT>TCC	p.S942S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S412S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242648	60242648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242648C>T	uc002lip.3	+	13	3334	c.3334C>T	c.(3334-3336)CCA>TCA	p.P1112S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.P582S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1112					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60562361	60562361	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60562361A>G	uc002lis.2	+	6	826	c.648A>G	c.(646-648)TCA>TCG	p.S216S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	728	LRR 4.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0																		---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61022445	61022445	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61022445T>A	uc010dpw.2	-	5	564	c.409A>T	c.(409-411)ACC>TCC	p.T137S	KDSR_uc010xem.1_Missense_Mutation_p.T137S	NM_002035	NP_002026	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase precursor	137	Cytoplasmic (Potential).				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			skin(1)	1																		---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61261619	61261619	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61261619C>T	uc002ljc.2	+	6	671	c.503C>T	c.(502-504)TCT>TTT	p.S168F	SERPINB13_uc002ljd.2_Missense_Mutation_p.S32F|SERPINB13_uc010xep.1_Missense_Mutation_p.S177F|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	168					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61378571	61378571	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61378571G>A	uc002ljk.3	+	3	233	c.171G>A	c.(169-171)GTG>GTA	p.V57V	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	57					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61449733	61449733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61449733C>T	uc002ljl.2	+	2	223	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SERPINB7_uc002ljm.2_Missense_Mutation_p.R43C|SERPINB7_uc010xet.1_Missense_Mutation_p.R43C|SERPINB7_uc010dqg.2_Missense_Mutation_p.R43C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61562597	61562597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61562597T>C	uc010xeu.1	+	4	601	c.268T>C	c.(268-270)TAT>CAT	p.Y90H	SERPINB2_uc002ljo.2_Missense_Mutation_p.Y90H|SERPINB2_uc010dqh.2_Missense_Mutation_p.Y20H|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	90					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)													---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547677	63547677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63547677A>G	uc002ljz.2	+	12	2230	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K	CDH7_uc002lkb.2_Silent_p.K635K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	635	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64212087	64212087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64212087T>C	uc002lkc.1	-	6	967	c.829A>G	c.(829-831)ACA>GCA	p.T277A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T277A|CDH19_uc002lkd.2_Missense_Mutation_p.T277A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	277	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65180565T>C	uc002lke.1	-	2	2535	c.1311A>G	c.(1309-1311)ACA>ACG	p.T437T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66346763	66346763	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66346763T>C	uc002lkf.2	-	15	1176	c.1041A>G	c.(1039-1041)CAA>CAG	p.Q347Q	TMX3_uc010xez.1_Silent_p.Q206Q	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	347	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1																		---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678164	66678164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66678164T>C	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67688033	67688033	+	Missense_Mutation	SNP	A	G	G	rs142159336	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67688033A>G	uc002lkp.2	-	45	6039	c.5971T>C	c.(5971-5973)TCA>CCA	p.S1991P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S1079P|RTTN_uc002lkn.2_5'UTR|RTTN_uc010dqp.2_Missense_Mutation_p.S243P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1991							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67692051	67692051	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67692051A>C	uc002lkp.2	-	44	5925	c.5857T>G	c.(5857-5859)TTG>GTG	p.L1953V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1041V|RTTN_uc010dqp.2_Missense_Mutation_p.L205V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1953							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67695984	67695984	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67695984A>G	uc002lkp.2	-	43	5867	c.5799T>C	c.(5797-5799)TGT>TGC	p.C1933C	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.C1021C|RTTN_uc010dqp.2_Silent_p.C185C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1933							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67794748	67794748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67794748C>T	uc002lkp.2	-	25	3441	c.3373G>A	c.(3373-3375)GCA>ACA	p.A1125T	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A213T	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1125							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67802453	67802453	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67802453A>C	uc002lkp.2	-	22	2920	c.2852T>G	c.(2851-2853)CTA>CGA	p.L951R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L39R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	951							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67813010	67813010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67813010C>T	uc002lkp.2	-	18	2387	c.2319G>A	c.(2317-2319)TCG>TCA	p.S773S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	773							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67816137	67816137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67816137G>A	uc002lkp.2	-	17	2377	c.2309C>T	c.(2308-2310)TCG>TTG	p.S770L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	770							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67860532	67860532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67860532C>T	uc002lkp.2	-	8	1067	c.999G>A	c.(997-999)GCG>GCA	p.A333A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.A333A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	333							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993122	67993122	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993122T>C	uc002lkr.1	+	2	1534	c.1218T>C	c.(1216-1218)TTT>TTC	p.F406F	SOCS6_uc010dqq.2_Silent_p.F406F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	406	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993331	67993331	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993331G>A	uc002lkr.1	+	2	1743	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	SOCS6_uc010dqq.2_Missense_Mutation_p.R476Q	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	476	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526050	70526050	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70526050T>C	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron|NETO1_uc002lkz.2_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822396	71822396	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822396A>C	uc010dqr.1	+	2	616	c.318A>C	c.(316-318)AGA>AGC	p.R106S		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	106					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822623C>T	uc010dqr.1	+	3	745	c.447C>T	c.(445-447)TGC>TGT	p.C149C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
FAM69C	125704	broad.mit.edu	37	18	72109298	72109298	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72109298G>A	uc002llk.2	-	3	939	c.930C>T	c.(928-930)ATC>ATT	p.I310I		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	hypothetical protein LOC125704	310	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72186224	72186224	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72186224T>C	uc002llm.1	+	11	1413	c.1251T>C	c.(1249-1251)AGT>AGC	p.S417S	CNDP2_uc002lln.1_Silent_p.S333S|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	417		Substrate; via amide nitrogen and carbonyl oxygen (By similarity).				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72353051	72353051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72353051T>C	uc002llw.2	+	2	4832	c.4775T>C	c.(4774-4776)ATG>ACG	p.M1592T	ZNF407_uc010xfc.1_Missense_Mutation_p.M1592T|ZNF407_uc010dqu.1_Missense_Mutation_p.M1592T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72632493	72632493	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72632493G>A	uc002llw.2	+	7	5330	c.5273G>A	c.(5272-5274)CGC>CAC	p.R1758H	ZNF407_uc010dqu.1_Missense_Mutation_p.R1758H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1758	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998127	72998127	+	Silent	SNP	C	T	T	rs146373782		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998127C>T	uc002lly.2	+	2	1193	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	255	C2H2-type 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998294	72998294	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998294A>T	uc002lly.2	+	2	1360	c.797A>T	c.(796-798)TAC>TTC	p.Y266F		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	311	C2H2-type 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999306	72999306	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72999306C>T	uc002lly.2	+	2	2372	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	648						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154214	74154214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154214T>A	uc010dqx.1	-	2	1032	c.797A>T	c.(796-798)CAC>CTC	p.H266L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	266	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154911	74154911	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154911G>T	uc010dqx.1	-	2	335	c.100C>A	c.(100-102)CAC>AAC	p.H34N	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74583682	74583682	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74583682C>T	uc002lmi.2	+	5	760	c.562C>T	c.(562-564)CGG>TGG	p.R188W	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R188W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	188					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74635026	74635026	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74635026G>T	uc002lmi.2	+	21	3750	c.3552_splice	c.e21-1	p.R1184_splice	ZNF236_uc002lmj.2_Splice_Site	NM_007345	NP_031371			zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
MBP	4155	broad.mit.edu	37	18	74729219	74729219	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77067105	77067105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77067105C>T	uc002lmx.2	+	15	1658	c.1644C>T	c.(1642-1644)ATC>ATT	p.I548I	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.I548I|ATP9B_uc002lmz.1_Silent_p.I242I	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	548	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77089273	77089273	+	Nonsense_Mutation	SNP	G	T	T	rs35782512	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77089273G>T	uc002lmx.2	+	16	1920	c.1906G>T	c.(1906-1908)GAG>TAG	p.E636*	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Nonsense_Mutation_p.E636*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.E330*	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	636	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170667	77170667	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170667A>G	uc010xfg.1	+	2	845	c.392A>G	c.(391-393)AAC>AGC	p.N131S	NFATC1_uc002lnc.1_Missense_Mutation_p.N131S|NFATC1_uc010xff.1_Missense_Mutation_p.N131S|NFATC1_uc002lnd.2_Missense_Mutation_p.N131S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.N131S|NFATC1_uc010xfi.1_Missense_Mutation_p.N118S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.N118S|NFATC1_uc002lng.2_Missense_Mutation_p.N118S|NFATC1_uc010xfk.1_Missense_Mutation_p.N118S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	131	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77208854	77208854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77208854C>T	uc010xfg.1	+	4	1912	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	NFATC1_uc002lnc.1_Missense_Mutation_p.R487C|NFATC1_uc010xff.1_Missense_Mutation_p.R487C|NFATC1_uc002lnd.2_Missense_Mutation_p.R487C|NFATC1_uc002lne.2_Missense_Mutation_p.R15C|NFATC1_uc010xfh.1_Missense_Mutation_p.R487C|NFATC1_uc010xfi.1_Missense_Mutation_p.R474C|NFATC1_uc010xfj.1_Missense_Mutation_p.R15C|NFATC1_uc002lnf.2_Missense_Mutation_p.R474C|NFATC1_uc002lng.2_Missense_Mutation_p.R474C|NFATC1_uc010xfk.1_Missense_Mutation_p.R474C	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	487	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77659249	77659249	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77659249G>T	uc010xfl.1	+	2	834	c.834G>T	c.(832-834)AAG>AAT	p.K278N		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	278					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894427	77894427	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77894427A>G	uc002lnw.2	+	4	1586	c.1131A>G	c.(1129-1131)CCA>CCG	p.P377P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	377	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895701	77895701	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77895701A>T	uc002lnw.2	+	4	2860	c.2405A>T	c.(2404-2406)GAT>GTT	p.D802V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	802					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291276	291276	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291276G>A	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291279	291279	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291279T>C	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	624774	624774	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:624774G>A	uc002lpf.1	-	5	1141	c.1085C>T	c.(1084-1086)CCG>CTG	p.P362L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	362					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746583	746583	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746583G>T	uc002lpm.1	+	9	1127	c.933G>T	c.(931-933)GAG>GAT	p.E311D	PALM_uc002lpn.1_Missense_Mutation_p.E267D|PALM_uc010xfu.1_Missense_Mutation_p.E176D	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	311					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746586	746586	+	Silent	SNP	C	A	A	rs142619819		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746586C>A	uc002lpm.1	+	9	1130	c.936C>A	c.(934-936)GCC>GCA	p.A312A	PALM_uc002lpn.1_Silent_p.A268A|PALM_uc010xfu.1_Silent_p.A177A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	312					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
C19orf21	126353	broad.mit.edu	37	19	758560	758560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:758560G>A	uc002lpo.2	+	2	1697	c.1614G>A	c.(1612-1614)CTG>CTA	p.L538L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	538										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	971952	971952	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1068749	1068749	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1068749A>C	uc002lqz.1	+						HMHA1_uc010xgd.1_Intron|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_Intron|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424			minor histocompatibility antigen HA-1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLR2E	5434	broad.mit.edu	37	19	1094045	1094045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1094045C>T	uc002lre.3	-	2	167	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	30					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1231118	1231118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1231118G>A	uc002lrm.2	-	9	1393	c.1118C>T	c.(1117-1119)CCG>CTG	p.P373L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	399						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)											HNSCC(14;0.022)			---	---	---	---
APC2	10297	broad.mit.edu	37	19	1462161	1462161	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1462161C>T	uc002lsr.1	+	14	2046	c.1838C>T	c.(1837-1839)ACC>ATC	p.T613I	APC2_uc002lss.1_Missense_Mutation_p.T195I|APC2_uc002lst.1_Missense_Mutation_p.T613I|APC2_uc002lsu.1_Missense_Mutation_p.T612I|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1585094	1585094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1585094C>T	uc002ltl.1	-	2	252	c.230G>A	c.(229-231)AGC>AAC	p.S77N	MBD3_uc002ltj.2_Missense_Mutation_p.S77N|MBD3_uc002ltk.2_Missense_Mutation_p.S45N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	77					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1795914	1795914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1795914C>A	uc002ltw.2	-	18	2249	c.2015G>T	c.(2014-2016)AGG>ATG	p.R672M	ATP8B3_uc002ltv.2_Missense_Mutation_p.R625M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	672	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)												OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827534	1827534	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1827534C>T	uc002lua.3	-	2	1349	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P	REXO1_uc010dsr.1_Silent_p.P372P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	418						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CSNK1G2	1455	broad.mit.edu	37	19	1979366	1979366	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1979366G>A	uc002lul.3	+	9	1340	c.817G>A	c.(817-819)GCC>ACC	p.A273T	CSNK1G2_uc010dsu.2_Missense_Mutation_p.A225T	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	273	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
BTBD2	55643	broad.mit.edu	37	19	1987258	1987258	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1987258G>A	uc002lup.1	-						BTBD2_uc002luo.1_Intron	NM_017797	NP_060267			BTB (POZ) domain containing 2							cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2102260	2102260	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2102260T>C	uc002luz.2	-	30	3597	c.3374A>G	c.(3373-3375)AAC>AGC	p.N1125S	AP3D1_uc010dsv.2_Missense_Mutation_p.N215S|AP3D1_uc002luy.2_Missense_Mutation_p.N1084S|AP3D1_uc002lva.2_Missense_Mutation_p.N1187S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1125					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129320	2129320	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129320C>T	uc002luz.2	-	7	952	c.729G>A	c.(727-729)AAG>AAA	p.K243K	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.K243K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	243					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129360	2129360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129360G>A	uc002luz.2	-	7	912	c.689C>T	c.(688-690)ACG>ATG	p.T230M	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.T230M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	230					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2202760	2202760	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2202760T>C	uc002lvb.3	+	9	805	c.769T>C	c.(769-771)TTT>CTT	p.F257L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	257						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
LMNB2	84823	broad.mit.edu	37	19	2435063	2435063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2435063C>T	uc002lvy.2	-	5	818	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	LMNB2_uc002lwa.1_Missense_Mutation_p.R264Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	244	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNG7	2788	broad.mit.edu	37	19	2515092	2515092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2515092G>T	uc002lwd.2	-	5	372	c.135C>A	c.(133-135)AAC>AAA	p.N45K	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2794776	2794776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2794776C>A	uc002lwj.2	+	3	399	c.244C>A	c.(244-246)CTT>ATT	p.L82I	THOP1_uc010xgz.1_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	82					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807650	2807650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807650C>T	uc002lwj.2	+	8	1252	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	THOP1_uc010xgz.1_Missense_Mutation_p.T245M|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	366					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807711	2807711	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807711C>T	uc002lwj.2	+	8	1313	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	THOP1_uc010xgz.1_Silent_p.G265G|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	386					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807736	2807736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807736C>T	uc002lwj.2	+	8	1338	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	THOP1_uc010xgz.1_Missense_Mutation_p.R274W|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3005923	3005923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3005923C>T	uc002lww.2	-	16	1807	c.1544G>A	c.(1543-1545)GGC>GAC	p.G515D	TLE2_uc010xhb.1_Missense_Mutation_p.G182D|TLE2_uc010dth.2_Missense_Mutation_p.G516D|TLE2_uc010xhc.1_Missense_Mutation_p.G393D|TLE2_uc010dti.2_Missense_Mutation_p.G529D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	515	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AES	166	broad.mit.edu	37	19	3061264	3061264	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3061264A>G	uc002lwy.1	-						AES_uc002lwz.1_Intron|AES_uc002lxa.1_Intron|AES_uc002lxb.1_Intron|AES_uc002lxc.2_Intron	NM_001130	NP_001121			amino-terminal enhancer of split isoform b						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNA11	2767	broad.mit.edu	37	19	3121099	3121099	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3121099G>A	uc002lxd.2	+	7	1244	c.1002G>A	c.(1000-1002)ACG>ACA	p.T334T	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	334					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)				Mis		uveal melanoma								---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3150136	3150136	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3150136C>T	uc002lxf.2	+	3	596	c.338C>T	c.(337-339)GCT>GTT	p.A113V	GNA15_uc010xhf.1_Missense_Mutation_p.A113V	NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	113					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3155864	3155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3155864A>T	uc002lxf.2	+	5	916	c.658A>T	c.(658-660)ATC>TTC	p.I220F		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	220					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
S1PR4	8698	broad.mit.edu	37	19	3179649	3179649	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3179649C>T	uc002lxg.2	+	1	884	c.859C>T	c.(859-861)CGG>TGG	p.R287W		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	287	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2																		---	---	---	---
NCLN	56926	broad.mit.edu	37	19	3207616	3207616	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3207616T>C	uc002lxi.2	+						NCLN_uc002lxh.1_Intron|NCLN_uc002lxj.1_Intron|NCLN_uc002lxk.2_Intron	NM_020170	NP_064555			nicalin precursor						proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3281228	3281228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3281228C>T	uc002lxm.2	+	6	672	c.635C>T	c.(634-636)GCC>GTC	p.A212V	CELF5_uc002lxl.1_Missense_Mutation_p.A212V|CELF5_uc010dtj.1_Missense_Mutation_p.A212V|CELF5_uc010xhg.1_Missense_Mutation_p.A98V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	212	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---
C19orf28	126321	broad.mit.edu	37	19	3551131	3551131	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3551131C>T	uc002lxz.2	-	2	530	c.360G>A	c.(358-360)GCG>GCA	p.A120A	C19orf28_uc002lxw.2_Silent_p.A120A|C19orf28_uc002lxx.2_Silent_p.A120A|C19orf28_uc002lxy.2_Silent_p.A111A	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	120					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf29	58509	broad.mit.edu	37	19	3620185	3620185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3620185T>C	uc002lyh.2	-	4	877	c.824A>G	c.(823-825)GAG>GGG	p.E275G	C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Missense_Mutation_p.E123G|C19orf29_uc002lyi.3_Missense_Mutation_p.E275G|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	275	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3656486	3656486	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3656486T>C	uc002lyj.1	-	6	595	c.538A>G	c.(538-540)ACC>GCC	p.T180A	PIP5K1C_uc010xhq.1_Missense_Mutation_p.T180A|PIP5K1C_uc010xhr.1_Missense_Mutation_p.T180A	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	180	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3733891	3733891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3733891C>T	uc010xhv.1	+	6	915	c.915C>T	c.(913-915)AGC>AGT	p.S305S	TJP3_uc010xhs.1_Silent_p.S286S|TJP3_uc010xht.1_Silent_p.S250S|TJP3_uc010xhu.1_Silent_p.S295S|TJP3_uc010xhw.1_Silent_p.S305S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	286						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3834970	3834970	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3834970G>A	uc002lyw.2	-	2	77	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	22						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)														---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4013158	4013158	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MAP2K2	5605	broad.mit.edu	37	19	4099374	4099374	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4099374C>A	uc002lzk.2	-	7	998	c.744G>T	c.(742-744)TCG>TCT	p.S248S	MAP2K2_uc002lzj.2_Silent_p.S58S	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	248	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										Cardiofaciocutaneous_syndrome				---	---	---	---
CREB3L3	84699	broad.mit.edu	37	19	4157037	4157037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4157037C>A	uc002lzl.2	+	3	318	c.202C>A	c.(202-204)CTG>ATG	p.L68M	CREB3L3_uc002lzm.2_Missense_Mutation_p.L58M|CREB3L3_uc010xib.1_Missense_Mutation_p.L59M|CREB3L3_uc010xic.1_Missense_Mutation_p.L59M	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	68	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4216957	4216957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4216957A>G	uc010dtt.1	+	18	2076	c.1800A>G	c.(1798-1800)AAA>AAG	p.K600K	ANKRD24_uc002lzs.2_Silent_p.K571K|ANKRD24_uc002lzt.2_Silent_p.K572K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	600											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)														---	---	---	---
EBI3	10148	broad.mit.edu	37	19	4234673	4234673	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4234673A>G	uc002lzu.2	+	4	397	c.389A>G	c.(388-390)GAC>GGC	p.D130G		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	130	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SH3GL1	6455	broad.mit.edu	37	19	4365591	4365591	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4365591C>A	uc002maj.2	-	4	325	c.219G>T	c.(217-219)ACG>ACT	p.T73T	SH3GL1_uc002mak.2_Silent_p.T73T|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	73	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)				T	MLL	AL								---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4491791C>T	uc002mao.2	+	6	730	c.637C>T	c.(637-639)CGG>TGG	p.R213W	HDGFRP2_uc002map.2_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4504480	4504480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4504480G>A	uc002mar.1	-	6	4065	c.4065C>T	c.(4063-4065)GGC>GGT	p.G1355G	PLIN4_uc010dub.1_Silent_p.G379G	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1355						lipid particle|plasma membrane					0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511907	4511907	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4511907C>A	uc002mar.1	-	3	2023	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	675	18.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0																		---	---	---	---
SEMA6B	10501	broad.mit.edu	37	19	4548328	4548328	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4548328C>T	uc010duc.1	-	12	1439	c.1401G>A	c.(1399-1401)GGG>GGA	p.G467G	SEMA6B_uc010dud.2_Silent_p.G467G|SEMA6B_uc010xih.1_Silent_p.G467G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	467	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4705902	4705902	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4705902G>T	uc002mba.2	-	5	652	c.394C>A	c.(394-396)CTG>ATG	p.L132M	DPP9_uc002mbb.2_Missense_Mutation_p.L132M|DPP9_uc002mbc.2_Missense_Mutation_p.L132M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	103					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)														---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5040024	5040024	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5040024T>C	uc002mbq.3	+	4	543	c.317_splice	c.e4+2	p.K106_splice	KDM4B_uc010xil.1_Splice_Site_p.K106_splice|KDM4B_uc010xim.1_Splice_Site_p.K106_splice	NM_015015	NP_055830			jumonji domain containing 2B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1																		---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5221144	5221144	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5221144C>T	uc002mbv.2	-	20	3556	c.3322G>A	c.(3322-3324)GGC>AGC	p.G1108S	PTPRS_uc002mbu.1_Missense_Mutation_p.G677S|PTPRS_uc010xin.1_Missense_Mutation_p.G677S|PTPRS_uc002mbw.2_Missense_Mutation_p.G1086S|PTPRS_uc002mbx.2_Missense_Mutation_p.G681S|PTPRS_uc002mby.2_Missense_Mutation_p.G677S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1108	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5225736	5225736	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5225736A>G	uc002mbv.2	-	17	2728	c.2494_splice	c.e17+1	p.V832_splice	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Splice_Site_p.V810_splice|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5455652	5455652	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5455652G>T	uc002mca.3	+	1	227	c.150G>T	c.(148-150)AAG>AAT	p.K50N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	50	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5592843	5592843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5592843G>A	uc002mcd.2	-	16	2475	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	755	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)														---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5691598	5691598	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5691598C>T	uc002mcv.2	+	4	353	c.284C>T	c.(283-285)GCC>GTC	p.A95V	RPL36_uc002mcw.2_Missense_Mutation_p.A95V	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0																OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LONP1	9361	broad.mit.edu	37	19	5714193	5714193	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5714193C>G	uc002mcx.2	-	2	551	c.518_splice	c.e2+1	p.S173_splice	LONP1_uc002mcy.2_Splice_Site_p.S109_splice|LONP1_uc010duh.2_Splice_Site|LONP1_uc010dui.2_Splice_Site_p.S173_splice|LONP1_uc002mcz.2_Splice_Site	NM_004793	NP_004784			mitochondrial lon peptidase 1 precursor						cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0																		---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5776331	5776331	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5776331G>A	uc002mda.2	+							NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5788365	5788365	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5788365T>C	uc002mdc.2	-						DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560			dihydrouridine synthase 3-like isoform 1						tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0																		---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6187702	6187702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6418522	6418522	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6418522C>T	uc002mer.3	-	9	961	c.851G>A	c.(850-852)CGC>CAC	p.R284H		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	284	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6476977	6476977	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6476977C>A	uc002mfe.2	-	10	661	c.569G>T	c.(568-570)AGG>ATG	p.R190M	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.R146M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1																		---	---	---	---
TUBB4	10382	broad.mit.edu	37	19	6501519	6501519	+	Intron	SNP	G	A	A	rs79044721	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6501519G>A	uc002mfg.1	-						TUBB4_uc002mff.1_Intron	NM_006087	NP_006078			tubulin, beta 4						'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)														---	---	---	---
C3	718	broad.mit.edu	37	19	6697697	6697697	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6697697A>C	uc002mfm.2	-	20	2611	c.2549T>G	c.(2548-2550)GTT>GGT	p.V850G		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	850					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
C3	718	broad.mit.edu	37	19	6710735	6710735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6710735T>C	uc002mfm.2	-	13	1663	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	534					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6750304	6750304	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6750304C>T	uc002mfs.2	+	13	1463	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	TRIP10_uc010dux.1_Missense_Mutation_p.A410V|TRIP10_uc002mfr.2_Missense_Mutation_p.A410V|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A229V	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1																		---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754060	6754060	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6754060T>C	uc002mft.2	-						SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481			SH2 domain containing 3A						JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6853059	6853059	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6853059G>A	uc002mfu.1	+	25	2398	c.2301G>A	c.(2299-2301)GAG>GAA	p.E767E	VAV1_uc010xjh.1_Silent_p.E735E|VAV1_uc010dva.1_Silent_p.E745E|VAV1_uc002mfv.1_Silent_p.E712E	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	767					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6921803	6921803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6921803G>A	uc002mfw.2	+	14	1738	c.1700G>A	c.(1699-1701)TGT>TAT	p.C567Y	EMR1_uc010dvc.2_Missense_Mutation_p.C567Y|EMR1_uc010dvb.2_Missense_Mutation_p.C515Y|EMR1_uc010xji.1_Missense_Mutation_p.C426Y|EMR1_uc010xjj.1_Missense_Mutation_p.C390Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	567	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6935098	6935098	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6935098C>A	uc002mfw.2	+						EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965			egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937571	6937571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937571A>G	uc002mfw.2	+	20	2605	c.2567A>G	c.(2566-2568)AAG>AGG	p.K856R	EMR1_uc010dvc.2_Missense_Mutation_p.K791R|EMR1_uc010dvb.2_Missense_Mutation_p.K837R|EMR1_uc010xji.1_Missense_Mutation_p.K715R|EMR1_uc010xjj.1_Missense_Mutation_p.K679R	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	856	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937586	6937586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937586G>A	uc002mfw.2	+	20	2620	c.2582G>A	c.(2581-2583)GGG>GAG	p.G861E	EMR1_uc010dvc.2_Missense_Mutation_p.G796E|EMR1_uc010dvb.2_Missense_Mutation_p.G842E|EMR1_uc010xji.1_Missense_Mutation_p.G720E|EMR1_uc010xjj.1_Missense_Mutation_p.G684E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	861	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR4P	326342	broad.mit.edu	37	19	6988789	6988789	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6988789T>A	uc010xjk.1	-						EMR4P_uc010dve.1_5'Flank	NR_024075				RecName: Full=Putative EGF-like module-containing mucin-like hormone receptor-like 4; AltName: Full=G-protein coupled receptor 127; AltName: Full=G-protein coupled receptor PGR16; Flags: Precursor;												0																		---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082971	7082971	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7082971A>T	uc002mgb.2	+	8	973	c.488A>T	c.(487-489)CAC>CTC	p.H163L	ZNF557_uc002mga.2_Missense_Mutation_p.H170L|ZNF557_uc002mgc.2_Missense_Mutation_p.H170L	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)														---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125510	7125510	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125510G>A	uc002mgd.1	-	17	3151	c.3042C>T	c.(3040-3042)GAC>GAT	p.D1014D	INSR_uc002mge.1_Silent_p.D1002D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1014	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125522	7125522	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125522C>T	uc002mgd.1	-	17	3139	c.3030G>A	c.(3028-3030)GTG>GTA	p.V1010V	INSR_uc002mge.1_Silent_p.V998V	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1010	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7166350	7166350	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7166350A>G	uc002mgd.1	-	8	1785	c.1676T>C	c.(1675-1677)GTA>GCA	p.V559A	INSR_uc002mge.1_Missense_Mutation_p.V559A|INSR_uc002mgf.2_Missense_Mutation_p.V559A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	559					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ARHGEF18	23370	broad.mit.edu	37	19	7509264	7509264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7509264G>A	uc002mgi.2	+	4	1224	c.971G>A	c.(970-972)CGC>CAC	p.R324H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)																---	---	---	---
C19orf45	374877	broad.mit.edu	37	19	7569089	7569089	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7569089A>G	uc002mgm.2	+	3	801	c.660A>G	c.(658-660)CCA>CCG	p.P220P	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	220											0																		---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7593720	7593720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7593720T>C	uc002mgo.2	+	9	1123	c.998T>C	c.(997-999)TTC>TCC	p.F333S	MCOLN1_uc002mgp.2_Missense_Mutation_p.F298S	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	333					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1																		---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7692152	7692152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7692152G>A	uc002mgx.2	-	4	525	c.499C>T	c.(499-501)CGA>TGA	p.R167*	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	167	HAT 5.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4													Direct_reversal_of_damage|NER					---	---	---	---
PCP2	126006	broad.mit.edu	37	19	7696662	7696662	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7696662A>G	uc002mgz.2	-	4	551	c.324T>C	c.(322-324)AGT>AGC	p.S108S	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	108					signal transduction		GTPase activator activity				0																		---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7708040	7708040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7708040G>A	uc002mha.3	+						STXBP2_uc002mhb.3_Intron|STXBP2_uc010dvj.2_Intron|STXBP2_uc010xjr.1_Intron|STXBP2_uc010dvk.2_Intron|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880			syntaxin binding protein 2 isoform a						leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1																		---	---	---	---
CLEC4G	339390	broad.mit.edu	37	19	7794289	7794289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7794289T>G	uc002mhp.3	-	9	914	c.845A>C	c.(844-846)AAG>ACG	p.K282T		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	282	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0																		---	---	---	---
EVI5L	115704	broad.mit.edu	37	19	7914150	7914150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7914150G>A	uc002min.2	+	5	715	c.561G>A	c.(559-561)TCG>TCA	p.S187S	EVI5L_uc010xjz.1_Silent_p.S187S|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	187	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7976042	7976042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7976042G>A	uc002mit.2	+	7	918	c.853G>A	c.(853-855)GCA>ACA	p.A285T	MAP2K7_uc002miv.2_Missense_Mutation_p.A285T|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A285T|MAP2K7_uc010dvv.2_Missense_Mutation_p.A160T	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	285	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7977189	7977189	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7977189G>T	uc002mit.2	+	11	1198	c.1133G>T	c.(1132-1134)AGC>ATC	p.S378I	MAP2K7_uc002miv.2_Missense_Mutation_p.S385I|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S385I|MAP2K7_uc010dvv.2_Missense_Mutation_p.S253I	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	378	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987422	7987422	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7987422T>C	uc002miw.1	+	5	801	c.778T>C	c.(778-780)TAC>CAC	p.Y260H	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	260					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
CCL25	6370	broad.mit.edu	37	19	8121288	8121288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8121288A>T	uc002mjd.2	+	3	230	c.230A>T	c.(229-231)AAC>ATC	p.N77I	CCL25_uc002mjc.3_Missense_Mutation_p.N77I|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	77					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8175763	8175763	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8175763G>A	uc002mjf.2	-	33	4320	c.4299C>T	c.(4297-4299)GGC>GGT	p.G1433G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1433	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550638	8550638	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8550638C>T	uc010dwe.2	+	14	1406	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	HNRNPM_uc010xke.1_Silent_p.D388D|HNRNPM_uc010dwd.2_Silent_p.D403D|HNRNPM_uc002mka.2_Silent_p.D307D|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|6.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0																		---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8563997	8563997	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8563997T>C	uc002mkd.2	-	2	715	c.695A>G	c.(694-696)CAG>CGG	p.Q232R	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0																		---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595214	8595214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8595214G>A	uc002mkg.2	-	21	2308	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	732						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3																		---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8661991	8661991	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8661991G>A	uc002mkj.1	-	8	1194	c.920C>T	c.(919-921)GCC>GTC	p.A307V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4																		---	---	---	---
MBD3L1	85509	broad.mit.edu	37	19	8953661	8953661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8953661G>A	uc002mko.2	+	1	393	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8973596	8973596	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8973596G>A	uc002mkp.2	-	77	42924	c.42720C>T	c.(42718-42720)GGC>GGT	p.G14240G	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G1040G|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9003630	9003630	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9003630T>G	uc002mkp.2	-	49	40214	c.40010A>C	c.(40009-40011)GAG>GCG	p.E13337A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E154A|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13339	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9008180	9008180	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9008180G>A	uc002mkp.2	-	41	39576	c.39372C>T	c.(39370-39372)TAC>TAT	p.Y13124Y	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13126	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9014204	9014204	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9014204C>A	uc002mkp.2	-	32	38648	c.38444G>T	c.(38443-38445)GGT>GTT	p.G12815V	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12817	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9019996	9019996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9019996A>T	uc002mkp.2	-	21	37703	c.37499T>A	c.(37498-37500)CTC>CAC	p.L12500H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12502	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9024831	9024831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9024831A>T	uc002mkp.2	-	16	37235	c.37031T>A	c.(37030-37032)GTC>GAC	p.V12344D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12346	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046516	9046516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046516G>A	uc002mkp.2	-	5	35319	c.35115C>T	c.(35113-35115)ACC>ACT	p.T11705T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9047431	9047431	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9047431T>A	uc002mkp.2	-	5	34404	c.34200A>T	c.(34198-34200)GTA>GTT	p.V11400V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11402	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068197	9068197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9068197G>A	uc002mkp.2	-	3	19453	c.19249C>T	c.(19249-19251)CCC>TCC	p.P6417S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6419	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072001	9072001	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072001T>C	uc002mkp.2	-	3	15649	c.15445A>G	c.(15445-15447)AAA>GAA	p.K5149E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5151	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076686	9076686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076686G>A	uc002mkp.2	-	3	10964	c.10760C>T	c.(10759-10761)GCT>GTT	p.A3587V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3588	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091505	9091505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091505A>G	uc002mkp.2	-	1	514	c.310T>C	c.(310-312)TCG>CCG	p.S104P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	104	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091600	9091600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091600A>G	uc002mkp.2	-	1	419	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	72	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204164	9204164	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9204164C>A	uc010xkj.1	+	1	244	c.244C>A	c.(244-246)CTG>ATG	p.L82M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3																		---	---	---	---
OR7G3	390883	broad.mit.edu	37	19	9236852	9236852	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9236852A>G	uc010xkl.1	-	1	775	c.775T>C	c.(775-777)TAC>CAC	p.Y259H		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9325015	9325015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9325015T>C	uc002mla.1	-	1	499	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578698	9578698	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9578698C>T	uc002mlp.1	-	10	1135	c.925G>A	c.(925-927)GCA>ACA	p.A309T	ZNF560_uc010dwr.1_Missense_Mutation_p.A203T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	309	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9676744	9676744	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9676744A>C	uc010xkp.1	-	4	1277	c.1045T>G	c.(1045-1047)TTC>GTC	p.F349V	ZNF121_uc010dwt.2_Missense_Mutation_p.F349V|ZNF121_uc010xkq.1_Missense_Mutation_p.F349V	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	349	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764069	9764069	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764069T>C	uc010xks.1	-	6	1000	c.837A>G	c.(835-837)GCA>GCG	p.A279A	ZNF562_uc002mly.2_Silent_p.A279A|ZNF562_uc002mlx.2_Silent_p.A207A|ZNF562_uc010xkt.1_Silent_p.A242A|ZNF562_uc010xku.1_Silent_p.A210A|ZNF562_uc010xkv.1_Silent_p.A278A|ZNF562_uc010xkw.1_Silent_p.A163A	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	279	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9868340	9868340	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9868340C>T	uc002mmb.1	-	6	1944	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T342T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	471	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9922090	9922090	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9922090A>G	uc002mme.2	-	3	705	c.463T>C	c.(463-465)TGC>CGC	p.C155R	FBXL12_uc002mmd.2_Missense_Mutation_p.C102R|FBXL12_uc002mmf.2_Missense_Mutation_p.C102R|FBXL12_uc002mmg.2_Missense_Mutation_p.C102R|FBXL12_uc002mmh.2_Missense_Mutation_p.C102R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	155							protein binding			lung(1)|kidney(1)	2																		---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10108053	10108053	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10108053A>C	uc002mmq.1	-	11	1343	c.1257T>G	c.(1255-1257)GGT>GGG	p.G419G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	419	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10250789	10250789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10250789C>A	uc002mng.2	-	32	3871	c.3691G>T	c.(3691-3693)GGC>TGC	p.G1231C	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.G155C|DNMT1_uc010xlc.1_Missense_Mutation_p.G1247C|DNMT1_uc002mnh.2_Missense_Mutation_p.G1126C|DNMT1_uc010xld.1_Missense_Mutation_p.G1231C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1231	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)													---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10428998	10428998	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10428998G>A	uc002moa.2	-	11	2027	c.1947C>T	c.(1945-1947)GGC>GGT	p.G649G	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Silent_p.G17G	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	478						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)															---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10610576G>A	uc002moq.1	-	2	290	c.134C>T	c.(133-135)TCC>TTC	p.S45F	KEAP1_uc002mor.1_Missense_Mutation_p.S45F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)															---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10662732	10662732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10662732C>T	uc002mov.2	+	8	1177	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L	ATG4D_uc010xlh.1_Silent_p.L290L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Silent_p.L20L|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	353					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)															---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10912952	10912952	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10912952G>A	uc002mps.1	+						DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Intron|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Intron	NM_001005361	NP_001005361			dynamin 2 isoform 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)															---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11113781	11113781	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11113781G>A	uc002mqf.3	+	12	2173	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G630D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G630D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G630D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	630					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11121158	11121158	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11121158T>C	uc002mqf.3	+	15	2509	c.2225T>C	c.(2224-2226)GTG>GCG	p.V742A	SMARCA4_uc010dxp.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxo.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqg.1_Missense_Mutation_p.V742A|SMARCA4_uc010dxq.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxr.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqj.3_Missense_Mutation_p.V742A|SMARCA4_uc010dxs.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	742					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11135038	11135038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11135038C>T	uc002mqf.3	+	21	3289	c.3005C>T	c.(3004-3006)GCG>GTG	p.A1002V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1002V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1002V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A222V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A125V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A205V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1002					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11311643	11311643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11311643G>A	uc002mqs.3	-	45	5815	c.5774C>T	c.(5773-5775)CCA>CTA	p.P1925L	DOCK6_uc002mqr.3_Missense_Mutation_p.P325L|DOCK6_uc010xlq.1_Missense_Mutation_p.P1264L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1925	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
LPPR2	64748	broad.mit.edu	37	19	11473321	11473321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11473321G>A	uc002mre.1	+	7	1133	c.796G>A	c.(796-798)GTG>ATG	p.V266M	LPPR2_uc002mrf.1_Missense_Mutation_p.V241M|LPPR2_uc010dxy.1_Missense_Mutation_p.V73M	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	266	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1																		---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832634	11832634	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11832634C>A	uc002msm.2	-	4	1841	c.1715G>T	c.(1714-1716)GGA>GTA	p.G572V	ZNF823_uc010xmd.1_Missense_Mutation_p.G390V|ZNF823_uc010dyi.1_Missense_Mutation_p.G528V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	572	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2															HNSCC(68;0.2)			---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11891793	11891793	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11891793C>G	uc010dyj.2	+	4	1348	c.1154C>G	c.(1153-1155)ACT>AGT	p.T385S	ZNF441_uc002msn.3_Missense_Mutation_p.T341S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	385	C2H2-type 8.			T -> A (in Ref. 1; BAC04661).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12059503	12059503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12059503T>C	uc002msu.2	+	4	790	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	ZNF700_uc010xme.1_Missense_Mutation_p.Y240H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	222	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060238	12060238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060238A>G	uc002msu.2	+	4	1525	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	ZNF700_uc010xme.1_Missense_Mutation_p.T485A|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	467	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060550	12060550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060550A>G	uc002msu.2	+	4	1837	c.1711A>G	c.(1711-1713)AAA>GAA	p.K571E	ZNF700_uc010xme.1_Missense_Mutation_p.K589E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	571	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12087930	12087930	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12087930A>C	uc002msw.2	+	2	236	c.81A>C	c.(79-81)AAA>AAC	p.K27N	ZNF763_uc010xmf.1_Missense_Mutation_p.K47N|ZNF763_uc002msv.2_Missense_Mutation_p.K30N|ZNF763_uc010xmg.1_Intron	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 763	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12126679	12126679	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12126679T>C	uc002msy.1	-	4	1174	c.1003A>G	c.(1003-1005)AAA>GAA	p.K335E	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K300E	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12129088	12129088	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12129088T>C	uc002msy.1	-	2	203	c.32A>G	c.(31-33)GAT>GGT	p.D11G	uc002msx.1_Intron|ZNF433_uc002msz.1_5'UTR	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12244607	12244607	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12244607A>T	uc002mtf.1	-	4	537	c.394T>A	c.(394-396)TCA>ACA	p.S132T	ZNF20_uc002mte.1_Missense_Mutation_p.S97T|ZNF20_uc002mtg.1_Missense_Mutation_p.S132T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430623	12430623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12430623A>G	uc002mtp.2	-	4	454	c.216T>C	c.(214-216)AGT>AGC	p.S72S	ZNF563_uc002mtq.2_Silent_p.S72S	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502889	12502889	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12502889C>T	uc010dyt.2	-	4	473	c.323G>A	c.(322-324)AGT>AAT	p.S108N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6																		---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12856292	12856292	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12856292C>T	uc002muv.2	+	3	425	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ASNA1_uc002muw.2_Silent_p.S136S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	137					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)													---	---	---	---
RNASEH2A	10535	broad.mit.edu	37	19	12918104	12918104	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12918104T>C	uc002mvg.1	+	3	344	c.284T>C	c.(283-285)GTG>GCG	p.V95A	RNASEH2A_uc002mvf.1_Missense_Mutation_p.V13A	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	95					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12984255	12984255	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12984255G>A	uc002mvm.2	+	25	3509	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1127					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13006890	13006890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13006890A>G	uc002mvq.2	+	7	667	c.590A>G	c.(589-591)TAC>TGC	p.Y197C	GCDH_uc010xms.1_Missense_Mutation_p.Y164C|GCDH_uc002mvp.2_Missense_Mutation_p.Y197C|GCDH_uc010xmt.1_Missense_Mutation_p.T43A|GCDH_uc010xmu.1_Missense_Mutation_p.Y153C	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	197					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0																		---	---	---	---
CALR	811	broad.mit.edu	37	19	13050442	13050442	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13050442T>C	uc002mvu.2	+	3	474	c.394T>C	c.(394-396)TTT>CTT	p.F132L		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	132	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13226211	13226211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13226211G>A	uc002mwj.2	-	4	773	c.523C>T	c.(523-525)CCT>TCT	p.P175S	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.P175S|TRMT1_uc002mwl.3_Missense_Mutation_p.P175S|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	175							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)														---	---	---	---
STX10	8677	broad.mit.edu	37	19	13255675	13255675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13255675C>T	uc010xnb.1	-	6	481	c.481G>A	c.(481-483)GAT>AAT	p.D161N	STX10_uc002mwn.2_Missense_Mutation_p.D60N|STX10_uc002mwo.2_Missense_Mutation_p.D60N|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.D62N	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	161	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
STX10	8677	broad.mit.edu	37	19	13256151	13256151	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13256151G>A	uc010xnb.1	-	5	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V	STX10_uc002mwn.2_Missense_Mutation_p.A40V|STX10_uc002mwo.2_Missense_Mutation_p.A40V|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.A42V	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	141	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13386759	13386759	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13386759C>A	uc010dze.2	-	24	4133	c.3897G>T	c.(3895-3897)CTG>CTT	p.L1299L	CACNA1A_uc010xnd.1_Silent_p.L4L|CACNA1A_uc002mwx.3_Silent_p.L4L|CACNA1A_uc010dzc.2_Silent_p.L824L|CACNA1A_uc002mwy.3_Silent_p.L1298L|CACNA1A_uc010xne.1_Silent_p.L827L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1299	III.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13411357	13411357	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13411357C>A	uc010dze.2	-						CACNA1A_uc010dzc.2_Intron|CACNA1A_uc002mwy.3_Intron|CACNA1A_uc010xne.1_Intron	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14031712	14031712	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14031712G>T	uc002mxo.2	+	14	1917	c.1618G>T	c.(1618-1620)GGG>TGG	p.G540W	CC2D1A_uc002mxp.2_Missense_Mutation_p.G540W|CC2D1A_uc010dzh.2_Missense_Mutation_p.G109W|CC2D1A_uc002mxq.1_Missense_Mutation_p.G185W	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	540					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040261	14040261	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040261T>C	uc002mxo.2	+						CC2D1A_uc002mxp.2_Intron|CC2D1A_uc010dzh.2_Intron	NM_017721	NP_060191			coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040966	14040966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040966G>T	uc002mxo.2	+	27	3085	c.2786G>T	c.(2785-2787)AGG>ATG	p.R929M	CC2D1A_uc002mxp.2_Missense_Mutation_p.R928M|CC2D1A_uc010dzh.2_Missense_Mutation_p.R498M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	929					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14043557	14043557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14043557G>A	uc002mxr.2	-	8	1774	c.1500C>T	c.(1498-1500)TGC>TGT	p.C500C	PODNL1_uc010xni.1_Silent_p.C418C|PODNL1_uc010xnj.1_Silent_p.C498C|PODNL1_uc002mxs.2_Silent_p.C409C	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	500						proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)															---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14067214	14067214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14067214T>C	uc002mxt.2	+	6	670	c.664T>C	c.(664-666)TAC>CAC	p.Y222H		NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	222										central_nervous_system(1)	1																		---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14208462	14208462	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14208462G>A	uc002myc.2	-	7	771	c.571C>T	c.(571-573)CGC>TGC	p.R191C	PRKACA_uc002myb.2_Missense_Mutation_p.R183C|PRKACA_uc010xnm.1_Missense_Mutation_p.R133C|PRKACA_uc002myd.2_Missense_Mutation_p.R133C	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14266323	14266323	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14266323C>T	uc010xnn.1	-	19	3453	c.3157G>A	c.(3157-3159)GCC>ACC	p.A1053T	LPHN1_uc010xno.1_Missense_Mutation_p.A1048T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1053	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14273431	14273431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14273431G>A	uc010xnn.1	-	6	1493	c.1197C>T	c.(1195-1197)CCC>CCT	p.P399P	LPHN1_uc010xno.1_Silent_p.P394P|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	399	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14288424	14288424	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14288424T>A	uc010xnn.1	-	3	499	c.203A>T	c.(202-204)GAC>GTC	p.D68V	LPHN1_uc010xno.1_Missense_Mutation_p.D68V	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	68	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
CD97	976	broad.mit.edu	37	19	14517536	14517536	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14517536C>T	uc002myl.2	+	16	2196	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	CD97_uc002mym.2_Silent_p.G642G|CD97_uc002myn.2_Silent_p.G598G	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	691	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4																OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14554388	14554388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14554388G>A	uc002myp.2	+	3	597	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	PKN1_uc002myq.2_Silent_p.Q149Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	143	REM 2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14877148	14877148	+	Missense_Mutation	SNP	G	T	T	rs61732009	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14877148G>T	uc002mzp.1	-	7	989	c.533C>A	c.(532-534)ACC>AAC	p.T178N	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.T178N|EMR2_uc002mzo.1_Missense_Mutation_p.T178N|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	178	EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224405	15224405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15224405G>A	uc002nah.1	+	8	1870	c.1839G>A	c.(1837-1839)GCG>GCA	p.A613A	SYDE1_uc002nai.1_Silent_p.A546A|SYDE1_uc002naj.1_Silent_p.A270A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	613					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15281259	15281259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15281259C>T	uc002nan.2	-	27	5073	c.4997G>A	c.(4996-4998)CGG>CAG	p.R1666Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1666	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15298066	15298066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15298066C>T	uc002nan.2	-	11	1766	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NOTCH3_uc002nao.1_Missense_Mutation_p.A564T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	564	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
EPHX3	79852	broad.mit.edu	37	19	15342831	15342831	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15342831G>A	uc002nap.2	-	1	401	c.192C>T	c.(190-192)CCC>CCT	p.P64P	EPHX3_uc002naq.2_Silent_p.P64P	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	64						extracellular region	hydrolase activity				0																		---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15366170	15366170	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15366170G>A	uc002nar.2	-	10	2207	c.1985C>T	c.(1984-1986)TCC>TTC	p.S662F	BRD4_uc002nas.2_Missense_Mutation_p.S662F|BRD4_uc002nat.3_Missense_Mutation_p.S662F	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15375424	15375424	+	Missense_Mutation	SNP	C	T	T	rs139156485	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15375424C>T	uc002nar.2	-	6	1225	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	BRD4_uc002nas.2_Missense_Mutation_p.V335M|BRD4_uc002nat.3_Missense_Mutation_p.V335M|BRD4_uc002nau.3_Missense_Mutation_p.V335M	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	335					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512058	15512058	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15512058C>T	uc002naw.1	-	5	818	c.719G>A	c.(718-720)GGC>GAC	p.G240D	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.G179D|AKAP8L_uc002nay.1_Missense_Mutation_p.G240D|AKAP8L_uc002naz.2_Missense_Mutation_p.G88D	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535436	15535436	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15535436G>C	uc002nbc.2	-	6	2562	c.2539C>G	c.(2539-2541)CAG>GAG	p.Q847E	WIZ_uc002nba.3_Missense_Mutation_p.Q714E|WIZ_uc002nbb.3_Missense_Mutation_p.Q673E	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1530						nucleus	zinc ion binding				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562668	15562668	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562668G>A	uc002nbe.2	-	18	3060	c.2974C>T	c.(2974-2976)CGG>TGG	p.R992W	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.R406W	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	992					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562916	15562916	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562916G>T	uc002nbe.2	-	17	2918	c.2832C>A	c.(2830-2832)AGC>AGA	p.S944R	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	944	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15566970	15566970	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15566970C>T	uc002nbe.2	-	11	1752	c.1666G>A	c.(1666-1668)GCC>ACC	p.A556T	RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.A44T	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	556	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15587373	15587373	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15587373C>T	uc002nbf.3	-	2	241	c.108G>A	c.(106-108)GAG>GAA	p.E36E	PGLYRP2_uc002nbg.3_Silent_p.E36E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	36					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852497	15852497	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15852497G>A	uc010xoq.1	+	1	295	c.295G>A	c.(295-297)GCC>ACC	p.A99T		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000299	16000299	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16000299A>G	uc002nbs.1	-	7	902	c.852T>C	c.(850-852)GAT>GAC	p.D284D	CYP4F2_uc010xot.1_Silent_p.D135D|CYP4F2_uc010xou.1_Silent_p.D135D	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	284					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000460	16000460	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16000460G>T	uc002nbs.1	-	7	741	c.691C>A	c.(691-693)CTT>ATT	p.L231I	CYP4F2_uc010xot.1_Missense_Mutation_p.L82I|CYP4F2_uc010xou.1_Missense_Mutation_p.L82I	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	231					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MED26	9441	broad.mit.edu	37	19	16686957	16686957	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16686957C>T	uc002nen.1	-	3	1945	c.1684G>A	c.(1684-1686)GGG>AGG	p.G562R	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	562					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2																		---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16790815	16790815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16790815C>T	uc002nes.2	+	2	236	c.145C>T	c.(145-147)CGC>TGC	p.R49C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	49	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910714	16910714	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910714A>T	uc002neu.3	+	17	3899	c.3477A>T	c.(3475-3477)GAA>GAT	p.E1159D	NWD1_uc002net.3_Missense_Mutation_p.E1024D|NWD1_uc002nev.3_Missense_Mutation_p.E953D			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1159	WD 8.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910875	16910875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910875A>G	uc002neu.3	+	17	4060	c.3638A>G	c.(3637-3639)GAC>GGC	p.D1213G	NWD1_uc002net.3_Missense_Mutation_p.D1078G|NWD1_uc002nev.3_Missense_Mutation_p.D1007G			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1213	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16982177	16982177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16982177A>G	uc002ney.1	+	15	2670	c.2656A>G	c.(2656-2658)ATG>GTG	p.M886V	SIN3B_uc002nez.1_Missense_Mutation_p.M854V|SIN3B_uc010xpi.1_Missense_Mutation_p.M444V	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	886					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16989146	16989146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16989146T>C	uc002ney.1	+	19	3217	c.3203T>C	c.(3202-3204)ATC>ACC	p.I1068T	SIN3B_uc002nez.1_Missense_Mutation_p.I1036T|SIN3B_uc010xpi.1_Missense_Mutation_p.I626T|SIN3B_uc010eaj.1_Missense_Mutation_p.I4T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1068					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17007077	17007077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17007077G>A	uc002nfb.2	-	41	5509	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.P291L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1779						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17058046	17058046	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17058046G>A	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17088263	17088263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17088263C>T	uc002nfb.2	-	15	1846	c.1814G>A	c.(1813-1815)CGC>CAC	p.R605H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	558						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R605H(1)		ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17111220	17111220	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17111220T>C	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17338819	17338819	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17338819G>A	uc002nfp.2	+							NM_024578	NP_078854			occludin/ELL domain containing 1											central_nervous_system(1)	1																		---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17487970	17487970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17487970A>G	uc002ngk.1	-	1	178	c.128T>C	c.(127-129)CTC>CCC	p.L43P		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	43	Helical; Signal-anchor for type II membrane protein; (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---
GLT25D1	79709	broad.mit.edu	37	19	17679355	17679355	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17679355G>A	uc002nhc.1	+	5	674	c.662G>A	c.(661-663)CGC>CAC	p.R221H	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	221					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17743650	17743650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17743650G>T	uc002nhd.2	-	28	3633	c.3633C>A	c.(3631-3633)CTC>CTA	p.L1211L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1123	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17759367	17759367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17759367C>T	uc002nhd.2	-	16	1953	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17774358	17774358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17774358C>T	uc002nhd.2	-	9	806	c.806G>A	c.(805-807)GGC>GAC	p.G269D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17780379	17780379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17845130	17845130	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17845130G>A	uc002nhe.1	+	7	3082	c.3073G>A	c.(3073-3075)GCA>ACA	p.A1025T	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A273T|MAP1S_uc010xpv.1_Missense_Mutation_p.A999T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1025	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1																		---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17943652	17943652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17943652C>T	uc002nhn.3	-	18	2537	c.2437G>A	c.(2437-2439)GAC>AAC	p.D813N	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D813N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	813					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56							2	Mis		acute megakaryocytic leukemia|								---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17988883	17988883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17988883G>T	uc002nhr.3	+	7	1297	c.950G>T	c.(949-951)CGC>CTC	p.R317L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	317	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18329232	18329232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18329232T>C	uc010xqc.1	-	10	1622	c.1142A>G	c.(1141-1143)TAC>TGC	p.Y381C	PDE4C_uc002nik.3_Missense_Mutation_p.Y381C|PDE4C_uc002nil.3_Missense_Mutation_p.Y381C|PDE4C_uc002nif.3_Missense_Mutation_p.Y150C|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Missense_Mutation_p.Y151C|PDE4C_uc010ebk.2_Missense_Mutation_p.Y275C|PDE4C_uc002nii.3_Missense_Mutation_p.Y349C|PDE4C_uc010ebl.2_Missense_Mutation_p.Y95C|PDE4C_uc010xqd.1_Missense_Mutation_p.Y150C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	381					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)													---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18546591	18546591	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18546591C>T	uc002njd.1	-	8	1166	c.1116G>A	c.(1114-1116)ACG>ACA	p.T372T	ISYNA1_uc002nja.1_Silent_p.T244T|ISYNA1_uc002njb.1_Silent_p.T290T|ISYNA1_uc002njc.1_Silent_p.T222T|ISYNA1_uc010xqh.1_Silent_p.T170T|ISYNA1_uc002nje.1_Silent_p.T318T|ISYNA1_uc002njf.1_Silent_p.T222T	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	372					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18547813	18547813	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18547813T>G	uc002njd.1	-	4	435	c.385A>C	c.(385-387)ATG>CTG	p.M129L	ISYNA1_uc002nja.1_Missense_Mutation_p.M1L|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Missense_Mutation_p.M75L|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	129					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
CRLF1	9244	broad.mit.edu	37	19	18707568	18707568	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18707568G>T	uc010ebt.1	-	6	1082	c.888C>A	c.(886-888)TGC>TGA	p.C296*		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	296	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1																		---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18876229	18876229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18876229G>A	uc002nkb.3	+	9	990	c.902G>A	c.(901-903)GGC>GAC	p.G301D	CRTC1_uc010ebv.2_Missense_Mutation_p.G317D|CRTC1_uc010ebw.2_Missense_Mutation_p.G166D|CRTC1_uc002nkc.3_Missense_Mutation_p.G166D	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	301	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519																		---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18965708	18965708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18965708C>T	uc002nkg.2	+	10	1594	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	UPF1_uc002nkf.2_Missense_Mutation_p.T429M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	440					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	p.T429M(1)		ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDF1	2657	broad.mit.edu	37	19	18981026	18981026	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18981026C>T	uc002nki.1	-	7						NM_021267	NP_067090			LAG1 homolog, ceramide synthase 1 isoform 1						growth	extracellular space	cytokine activity|growth factor activity				0																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19040120	19040120	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19040120A>G	uc002nku.2	-	9					HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|HOMER3_uc010eby.2_3'UTR|HOMER3_uc010ebz.2_3'UTR|HOMER3_uc002nkw.2_3'UTR|HOMER3_uc002nkv.2_3'UTR	NM_004838	NP_004829			Homer, neuronal immediate early gene, 3 isoform						metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
SFRS14	10147	broad.mit.edu	37	19	19120711	19120711	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19120711T>C	uc002nkx.2	-	5	2437	c.2291A>G	c.(2290-2292)GAC>GGC	p.D764G	SFRS14_uc002nkz.1_Missense_Mutation_p.D778G|SFRS14_uc002nla.1_Missense_Mutation_p.D764G|SFRS14_uc002nlb.2_Missense_Mutation_p.D764G|SFRS14_uc010xqk.1_Missense_Mutation_p.D533G	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	764	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---
RFXANK	8625	broad.mit.edu	37	19	19308333	19308333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19308333A>G	uc002nls.2	+	6	846	c.341A>G	c.(340-342)GAC>GGC	p.D114G	RFXANK_uc002nlt.2_Missense_Mutation_p.D91G|RFXANK_uc002nlu.2_Missense_Mutation_p.D92G|RFXANK_uc002nlv.2_Missense_Mutation_p.D114G|RFXANK_uc002nlw.2_Missense_Mutation_p.D113G	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	114	ANK 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371751	19371751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371751G>A	uc002nmb.2	-	3	410	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	HAPLN4_uc002nmc.2_Nonsense_Mutation_p.Q119*	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	119	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371882	19371882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371882G>A	uc002nmb.2	-	3	279	c.224C>T	c.(223-225)GCC>GTC	p.A75V	HAPLN4_uc002nmc.2_Missense_Mutation_p.A75V	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	75	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
TSSK6	83983	broad.mit.edu	37	19	19626044	19626044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19626044G>A	uc002nmr.2	-	1	426	c.193C>T	c.(193-195)CGG>TGG	p.R65W	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	65	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R65W(1)		stomach(1)	1																		---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655293	19655293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19655293C>T	uc002nmv.3	+	8	2024	c.1939C>T	c.(1939-1941)CTC>TTC	p.L647F	CILP2_uc002nmw.3_Missense_Mutation_p.L653F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	647						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1																		---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19745618	19745618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19745618T>C	uc002nnd.2	-	17	1987	c.1870A>G	c.(1870-1872)AAG>GAG	p.K624E	GMIP_uc010xrb.1_Missense_Mutation_p.K598E|GMIP_uc010xrc.1_Missense_Mutation_p.K595E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	624	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758026	19758026	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758026T>C	uc002nnh.3	-	22	3045	c.3017A>G	c.(3016-3018)TAC>TGC	p.Y1006C	ATP13A1_uc002nne.2_Missense_Mutation_p.Y146C|ATP13A1_uc002nnf.3_Missense_Mutation_p.Y374C|ATP13A1_uc002nng.2_Missense_Mutation_p.Y888C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1006	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19766929	19766929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19766929C>T	uc002nnh.3	-	8	1175	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.V265I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	383	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ZNF506	440515	broad.mit.edu	37	19	19905511	19905511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19905511T>C	uc010eci.2	-	4	1333	c.1185A>G	c.(1183-1185)AAA>AAG	p.K395K	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.K363K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20003500	20003500	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20003500G>A	uc002noj.2	+	4	1536	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	ZNF253_uc002nok.2_Missense_Mutation_p.V406M|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117228	20117228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117228T>C	uc002noq.2	-	4	1206	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	ZNF682_uc002noo.2_Silent_p.V329V|ZNF682_uc002nop.2_Silent_p.V329V|ZNF682_uc010eck.2_Silent_p.V285V	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117462	20117462	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117462T>G	uc002noq.2	-	4	972	c.849A>C	c.(847-849)AAA>AAC	p.K283N	ZNF682_uc002noo.2_Missense_Mutation_p.K251N|ZNF682_uc002nop.2_Missense_Mutation_p.K251N|ZNF682_uc010eck.2_Missense_Mutation_p.K207N	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117540	20117540	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117540G>A	uc002noq.2	-	4	894	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	ZNF682_uc002noo.2_Silent_p.Y225Y|ZNF682_uc002nop.2_Silent_p.Y225Y|ZNF682_uc010eck.2_Silent_p.Y181Y	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	257	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131805	21131805	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21131805A>G	uc002npg.3	+	4	612	c.485A>G	c.(484-486)AAC>AGC	p.N162S	ZNF85_uc010ecn.2_Missense_Mutation_p.N97S|ZNF85_uc010eco.2_Missense_Mutation_p.N110S|ZNF85_uc002npi.2_Missense_Mutation_p.N103S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	162	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240721	21240721	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21240721C>G	uc002npj.2	+	5	1717	c.1607C>G	c.(1606-1608)ACT>AGT	p.T536S	ZNF430_uc002npk.2_Missense_Mutation_p.T535S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21477270	21477270	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21477270A>T	uc002npq.1	-	4	696	c.498T>A	c.(496-498)AAT>AAA	p.N166K	ZNF708_uc002npr.1_Missense_Mutation_p.N102K|ZNF708_uc010ecs.1_Missense_Mutation_p.N102K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607090	21607090	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607090A>C	uc002npx.2	+	2	1525	c.1245A>C	c.(1243-1245)AAA>AAC	p.K415N	ZNF493_uc002npw.2_Missense_Mutation_p.K543N|ZNF493_uc002npy.2_Missense_Mutation_p.K415N	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607791	21607791	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607791T>C	uc002npx.2	+	2					ZNF493_uc002npw.2_3'UTR|ZNF493_uc002npy.2_3'UTR	NM_175910	NP_787106			zinc finger protein 493 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720176	21720176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21720176A>G	uc002nqd.1	+	4	1458	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	441	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21909534	21909534	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21909534C>A	uc002nqi.2	-	5	1779	c.1580G>T	c.(1579-1581)AGC>ATC	p.S527I	ZNF100_uc002nqh.2_Missense_Mutation_p.S463I	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910359	21910359	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21910359C>T	uc002nqi.2	-	5	954	c.755G>A	c.(754-756)AGG>AAG	p.R252K	ZNF100_uc002nqh.2_Missense_Mutation_p.R188K	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	252	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991813	21991813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991813G>A	uc002nqj.2	-	4	1156	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	ZNF43_uc010ecv.2_Silent_p.Y336Y|ZNF43_uc002nql.2_Silent_p.Y336Y|ZNF43_uc002nqm.2_Silent_p.Y336Y|ZNF43_uc002nqk.2_Silent_p.Y272Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22255727	22255727	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22255727G>A	uc010ecx.2	+	2	289	c.120G>A	c.(118-120)CTG>CTA	p.L40L	ZNF257_uc010ecy.2_Silent_p.L8L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364184	22364184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22364184A>G	uc002nqs.1	-	3	653	c.335T>C	c.(334-336)GTA>GCA	p.V112A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941684	22941684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22941684A>G	uc010xrh.1	-	5	754	c.754T>C	c.(754-756)TGT>CGT	p.C252R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30308410	30308410	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30308410C>T	uc002nsn.2	+	6	607	c.424C>T	c.(424-426)CCA>TCA	p.P142S	CCNE1_uc002nso.2_Missense_Mutation_p.P127S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	142					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30312895	30312895	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30312895T>A	uc002nsn.2	+						CCNE1_uc002nso.2_Intron|CCNE1_uc002nsp.2_5'UTR	NM_001238	NP_001229			cyclin E1 isoform 1						androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
C19orf2	8725	broad.mit.edu	37	19	30503413	30503413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30503413T>G	uc002nsr.2	+	10	1430	c.1400T>G	c.(1399-1401)CTT>CGT	p.L467R	C19orf2_uc002nsq.2_Missense_Mutation_p.L449R|C19orf2_uc002nss.2_Missense_Mutation_p.L427R|C19orf2_uc002nst.2_Missense_Mutation_p.L391R	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	467					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039501	31039501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31039501T>C	uc002nsu.1	+	4	3113	c.2975T>C	c.(2974-2976)GTA>GCA	p.V992A	ZNF536_uc010edd.1_Missense_Mutation_p.V992A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769837	31769837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769837G>A	uc002nsy.3	-	2	927	c.862C>T	c.(862-864)CAG>TAG	p.Q288*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	288	C2H2-type 2.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769888	31769888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769888C>T	uc002nsy.3	-	2	876	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	271					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33117683	33117683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33117683C>T	uc002ntn.1	-	16	1627	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	491	ANK 2.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33585162	33585162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33585162C>T	uc002nug.1	+	5	854	c.540C>T	c.(538-540)CGC>CGT	p.R180R		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	180	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33602641	33602641	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33602641C>T	uc002nug.1	+	12	1911	c.1597C>T	c.(1597-1599)CGC>TGC	p.R533C	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	533						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33623191	33623191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33623191C>T	uc002nui.2	+	1	194	c.116C>T	c.(115-117)GCG>GTG	p.A39V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	39										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33666372	33666372	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33666372T>C	uc002nui.2	+	11	1391	c.1313T>C	c.(1312-1314)GTG>GCG	p.V438A		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	438										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34180174	34180174	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34180174C>A	uc002nus.3	+	3	512	c.7C>A	c.(7-9)CTG>ATG	p.L3M	CHST8_uc002nut.3_Missense_Mutation_p.L3M|CHST8_uc002nuu.2_Missense_Mutation_p.L3M	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	3	Cytoplasmic (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34292139	34292139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34292139T>C	uc002nuy.3	+	4	402	c.134T>C	c.(133-135)ATC>ACC	p.I45T	KCTD15_uc002nuv.2_Missense_Mutation_p.I45T|KCTD15_uc002nuw.3_Missense_Mutation_p.I45T|KCTD15_uc010xrt.1_Missense_Mutation_p.I45T|KCTD15_uc002nux.3_Missense_Mutation_p.I45T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34302406	34302406	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34302406G>A	uc002nuy.3	+	6	910	c.642G>A	c.(640-642)ACG>ACA	p.T214T	KCTD15_uc002nuv.2_Silent_p.T214T|KCTD15_uc002nuw.3_Silent_p.T214T|KCTD15_uc010xrt.1_Silent_p.T214T|KCTD15_uc002nux.3_Silent_p.T214T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34839981	34839981	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34839981G>C	uc002nvd.3	+	12	3607	c.2748G>C	c.(2746-2748)GAG>GAC	p.E916D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	916										ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887230	34887230	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34887230T>C	uc002nvg.1	+	13	1190	c.1087T>C	c.(1087-1089)TAC>CAC	p.Y363H	GPI_uc002nvf.2_Missense_Mutation_p.Y402H|GPI_uc010xrv.1_Missense_Mutation_p.Y374H|GPI_uc010xrw.1_Missense_Mutation_p.Y335H|GPI_uc010edl.1_Missense_Mutation_p.Y363H|GPI_uc002nvi.1_Missense_Mutation_p.Y26H	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	363					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)																	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34929585	34929585	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34929585G>A	uc002nvk.2	+	6	565	c.495G>A	c.(493-495)CCG>CCA	p.P165P	UBA2_uc010xrx.1_Silent_p.P38P|UBA2_uc002nvl.2_Silent_p.P69P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34935965G>A	uc002nvk.2	+	8	780	c.710G>A	c.(709-711)CGT>CAT	p.R237H	UBA2_uc010xrx.1_Missense_Mutation_p.R110H|UBA2_uc002nvl.2_Missense_Mutation_p.R141H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35512908	35512908	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35512908G>T	uc010xse.1	+	16	1944	c.1807G>T	c.(1807-1809)GGC>TGC	p.G603C	GRAMD1A_uc002nxk.2_Missense_Mutation_p.G596C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G369C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.G608C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G218C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	603						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)															---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556188	35556188	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35556188C>T	uc002nxq.1	+	11	1091	c.846C>T	c.(844-846)GGC>GGT	p.G282G	HPN_uc002nxr.1_Silent_p.G282G|HPN_uc002nxs.1_Silent_p.G124G|HPN_uc010xsh.1_Silent_p.G251G|HPN_uc002nxt.1_Silent_p.G166G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	282	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)													---	---	---	---
FAM187B	148109	broad.mit.edu	37	19	35719391	35719391	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35719391T>C	uc002nyk.1	-	1	238	c.193A>G	c.(193-195)AGC>GGC	p.S65G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65	Extracellular (Potential).					integral to membrane				ovary(2)	2																		---	---	---	---
DMKN	93099	broad.mit.edu	37	19	35990851	35990851	+	Intron	SNP	C	T	T	rs148824329	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35990851C>T	uc002nzm.3	-						DMKN_uc002nzi.3_Intron|DMKN_uc002nzj.2_Intron|DMKN_uc002nzk.3_Intron|DMKN_uc002nzl.3_Intron|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_Intron|DMKN_uc002nzr.2_Intron|DMKN_uc002nzp.2_Intron|DMKN_uc002nzq.2_Intron|DMKN_uc002nzt.2_Intron|DMKN_uc002nzs.2_Intron|DMKN_uc002nzu.2_Intron|DMKN_uc002nzv.2_Intron	NM_033317	NP_201574			dermokine isoform 2 precursor							extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36045887	36045887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36045887G>A	uc002oal.1	-	16	2447	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	806	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046363	36046363	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36046363G>T	uc002oal.1	-	14	2165	c.2136C>A	c.(2134-2136)ATC>ATA	p.I712I	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	712	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36109909	36109909	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36109909A>G	uc002oam.1	+	13	1188	c.1137A>G	c.(1135-1137)CTA>CTG	p.L379L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	379	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0																		---	---	---	---
UPK1A	11045	broad.mit.edu	37	19	36157788	36157788	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36157788T>A	uc002oaw.2	+	1	74	c.74T>A	c.(73-75)ATC>AAC	p.I25N	UPK1A_uc010eeh.2_Missense_Mutation_p.I25N	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36224532	36224532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36224532C>T	uc010eei.2	+	30	6994	c.6994C>T	c.(6994-6996)CGT>TGT	p.R2332C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2332					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2334C(1)		central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36229256	36229256	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36229256G>A	uc010eei.2	+	38	7946	c.7946G>A	c.(7945-7947)CGC>CAC	p.R2649H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2649	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
TMEM149	79713	broad.mit.edu	37	19	36230664	36230664	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36230664A>G	uc002obc.2	-	4	769	c.668T>C	c.(667-669)CTG>CCG	p.L223P	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.L223P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L303P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	223	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36575648	36575648	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36575648T>C	uc002odc.2	+	12	1733	c.1642_splice	c.e12+2	p.G548_splice	WDR62_uc002odd.2_Splice_Site_p.G548_splice	NM_173636	NP_775907			WD repeat domain 62 isoform 2						cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36593712	36593712	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36593712T>C	uc002odc.2	+	27	3370	c.3279T>C	c.(3277-3279)AGT>AGC	p.S1093S	WDR62_uc002odd.2_Silent_p.S1098S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1093					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
POLR2I	5438	broad.mit.edu	37	19	36604659	36604659	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36604659A>G	uc002ode.2	-	6	824	c.376T>C	c.(376-378)TGA>CGA	p.*126R	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
CAPNS1	826	broad.mit.edu	37	19	36633880	36633880	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36633880G>A	uc002odj.2	+						CAPNS1_uc002odi.1_Intron|CAPNS1_uc002odk.2_Intron|CAPNS1_uc002odl.2_Intron	NM_001749	NP_001740			calpain, small subunit 1						positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
COX7A1	1346	broad.mit.edu	37	19	36642422	36642422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36642422C>T	uc002odm.1	-	3	591	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_001864	NP_001855	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1	43	Mitochondrial matrix (By similarity).				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884782	36884782	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36884782G>T	uc002ody.1	-	5	695	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36939920	36939920	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36939920A>G	uc002oea.3	-	5	1298	c.1216T>C	c.(1216-1218)TAT>CAT	p.Y406H	ZNF566_uc010xte.1_Missense_Mutation_p.Y406H|ZNF566_uc010xtf.1_Missense_Mutation_p.Y407H|ZNF566_uc002oeb.3_Missense_Mutation_p.Y406H|ZNF566_uc002oec.3_Missense_Mutation_p.Y302H|ZNF566_uc010xtg.1_Missense_Mutation_p.Y302H	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37037873	37037873	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37037873A>G	uc002oeh.3	-	5	1789	c.1587T>C	c.(1585-1587)ACT>ACC	p.T529T	ZNF529_uc010xth.1_Silent_p.T529T|ZNF529_uc010xti.1_Silent_p.T511T|ZNF529_uc002oeg.3_Silent_p.T424T	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37038467	37038467	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37038467A>G	uc002oeh.3	-	5	1195	c.993T>C	c.(991-993)ATT>ATC	p.I331I	ZNF529_uc010xth.1_Silent_p.I331I|ZNF529_uc010xti.1_Silent_p.I313I|ZNF529_uc002oeg.3_Silent_p.I226I	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	298	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37117166	37117166	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37117166C>A	uc002oek.2	+	5	480	c.367C>A	c.(367-369)CTA>ATA	p.L123I	ZNF382_uc010efa.2_Missense_Mutation_p.L74I|ZNF382_uc010efb.2_Missense_Mutation_p.L122I|ZNF382_uc002oel.2_Missense_Mutation_p.L122I	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	123	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37441575	37441575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37441575G>A	uc002ofc.2	+	7	2035	c.1520G>A	c.(1519-1521)TGT>TAT	p.C507Y	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C431Y|ZNF568_uc010efe.2_Missense_Mutation_p.C431Y|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	507	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37903927	37903927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37903927T>C	uc002ogi.2	-	6	2191	c.1633A>G	c.(1633-1635)ACA>GCA	p.T545A	ZNF569_uc002ogh.2_Missense_Mutation_p.T386A|ZNF569_uc002ogj.2_Missense_Mutation_p.T569A	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127031	38127031	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127031A>G	uc002ogv.1	-	6	927	c.411T>C	c.(409-411)CCT>CCC	p.P137P	ZFP30_uc002ogw.1_Silent_p.P137P|ZFP30_uc002ogx.1_Silent_p.P137P|ZFP30_uc010xtt.1_Silent_p.P136P	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127206	38127206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127206T>A	uc002ogv.1	-	6	752	c.236A>T	c.(235-237)GAT>GTT	p.D79V	ZFP30_uc002ogw.1_Missense_Mutation_p.D79V|ZFP30_uc002ogx.1_Missense_Mutation_p.D79V|ZFP30_uc010xtt.1_Missense_Mutation_p.D78V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190323	38190323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190323A>G	uc002ohc.1	-	5	1305	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y236H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190374	38190374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190374A>G	uc002ohc.1	-	5	1254	c.658T>C	c.(658-660)TAT>CAT	p.Y220H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y219H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190740	38190740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190740G>A	uc002ohc.1	-	5	888	c.292C>T	c.(292-294)CAC>TAC	p.H98Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H97Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
GGN	199720	broad.mit.edu	37	19	38877100	38877100	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38877100G>A	uc002oij.1	-	3	937	c.802C>T	c.(802-804)CTG>TTG	p.L268L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.L185L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	268	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38910772	38910772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38910772G>T	uc002oir.2	-	5	722	c.508C>A	c.(508-510)CTC>ATC	p.L170I	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L170I|RASGRP4_uc010xub.1_Missense_Mutation_p.L170I|RASGRP4_uc010xuc.1_Missense_Mutation_p.L170I|RASGRP4_uc010xud.1_Missense_Mutation_p.L170I|RASGRP4_uc010xue.1_Missense_Mutation_p.L170I|RASGRP4_uc010egb.2_Missense_Mutation_p.L170I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38912707	38912707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38912707C>T	uc002oir.2	-	2	324	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R37Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R37Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	37					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38986843	38986843	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38986843G>A	uc002oit.2	+						RYR1_uc002oiu.2_Intron|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38990633	38990633	+	Missense_Mutation	SNP	G	A	A	rs121918593		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38990633G>A	uc002oit.2	+	45	7430	c.7300G>A	c.(7300-7302)GGA>AGA	p.G2434R	RYR1_uc002oiu.2_Missense_Mutation_p.G2434R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2434	Cytoplasmic.|6 X approximate repeats.		G -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39028590	39028590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39028590G>A	uc002oit.2	+	84	11809	c.11679G>A	c.(11677-11679)GGG>GGA	p.G3893G	RYR1_uc002oiu.2_Silent_p.G3888G|RYR1_uc002oiv.1_Silent_p.G802G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39207920	39207920	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39207920G>A	uc002oja.1	+	10	1166	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	ACTN4_uc010egc.1_Silent_p.R369R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	369	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39334720	39334720	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39334720C>T	uc010xul.1	-	5	746	c.735G>A	c.(733-735)CAG>CAA	p.Q245Q	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Silent_p.Q112Q|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	245	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)															---	---	---	---
PAPL	390928	broad.mit.edu	37	19	39597717	39597717	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39597717A>T	uc002oki.2	+	12	1518	c.1244A>T	c.(1243-1245)GAC>GTC	p.D415V	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	415						extracellular region	acid phosphatase activity|metal ion binding				0																		---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39669173	39669173	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39669173C>T	uc002okj.1	+	11	2191	c.1730C>T	c.(1729-1731)CCG>CTG	p.P577L	PAK4_uc002okl.1_Missense_Mutation_p.P577L|PAK4_uc002okn.1_Missense_Mutation_p.P577L|PAK4_uc002okm.1_Missense_Mutation_p.P424L|PAK4_uc002oko.1_Missense_Mutation_p.P424L|PAK4_uc002okp.1_Missense_Mutation_p.P487L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	577					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)															---	---	---	---
IL28B	282617	broad.mit.edu	37	19	39734787	39734787	+	Missense_Mutation	SNP	C	T	T	rs144570763		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
IL28A	282616	broad.mit.edu	37	19	39760407	39760407	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39760407G>A	uc002oku.1	+	5	502	c.450G>A	c.(448-450)AGG>AGA	p.R150R		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	150					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39804819	39804819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39804819G>A	uc002okw.2	-	1	1158	c.1158C>T	c.(1156-1158)TGC>TGT	p.C386C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	386	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
PAF1	54623	broad.mit.edu	37	19	39879188	39879188	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39879188C>T	uc002old.2	-						PAF1_uc002ole.1_Intron|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961			Paf1, RNA polymerase II associated factor,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)															---	---	---	---
MED29	55588	broad.mit.edu	37	19	39888188	39888188	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39888188A>C	uc002olf.2	+	4	552	c.515A>C	c.(514-516)CAG>CCG	p.Q172P	MED29_uc010xuw.1_Missense_Mutation_p.S149R|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)													OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39906037	39906037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39906037G>A	uc010xuz.1	+	4	762	c.437G>A	c.(436-438)GGC>GAC	p.G146D	PLEKHG2_uc010xuy.1_Missense_Mutation_p.G87D|PLEKHG2_uc002olj.2_Missense_Mutation_p.G146D|PLEKHG2_uc010xva.1_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	146	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
DLL3	10683	broad.mit.edu	37	19	39995888	39995888	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39995888A>T	uc002olx.2	+	6	948	c.890A>T	c.(889-891)GAA>GTA	p.E297V	DLL3_uc010egq.2_Missense_Mutation_p.E297V|DLL3_uc002olw.2_Missense_Mutation_p.E297V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	297	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
LGALS14	56891	broad.mit.edu	37	19	40197239	40197239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40197239A>G	uc002omg.2	+	2	241	c.18A>G	c.(16-18)GTA>GTG	p.V6V	LGALS14_uc002omf.2_Silent_p.V35V	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	6	Galectin.			SLPV -> ITPG (in Ref. 1; AAP97241).		nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)															---	---	---	---
CLC	1178	broad.mit.edu	37	19	40225044	40225044	+	Missense_Mutation	SNP	C	T	T	rs140514392	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40225044C>T	uc002omh.2	-	3	258	c.182G>A	c.(181-183)CGT>CAT	p.R61H		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	61	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)														---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321416	40321416	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321416G>C	uc002omj.2	-	3	351	c.71C>G	c.(70-72)CCT>CGT	p.P24R	DYRK1B_uc002omi.2_Missense_Mutation_p.P24R|DYRK1B_uc002omk.2_Missense_Mutation_p.P24R|DYRK1B_uc002oml.2_Missense_Mutation_p.P24R	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	24					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321423	40321423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321423C>T	uc002omj.2	-	3	344	c.64G>A	c.(64-66)GTA>ATA	p.V22I	DYRK1B_uc002omi.2_Missense_Mutation_p.V22I|DYRK1B_uc002omk.2_Missense_Mutation_p.V22I|DYRK1B_uc002oml.2_Missense_Mutation_p.V22I	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	22					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362933	40362933	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40362933C>T	uc002omp.3	-	32	15145	c.15137G>A	c.(15136-15138)AGC>AAC	p.S5046N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5046	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40364395	40364395	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40364395A>G	uc002omp.3	-	31	14255	c.14247T>C	c.(14245-14247)GGT>GGC	p.G4749G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4749	TIL 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40485987	40485987	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40485987G>A	uc002omq.2	+	8	889	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PSMC4_uc002omr.2_Silent_p.E253E	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40521505	40521505	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40521505C>A	uc002oms.2	+	7	2584	c.2328C>A	c.(2326-2328)CCC>CCA	p.P776P	ZNF546_uc002omt.2_Silent_p.P750P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581085	40581085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40581085A>G	uc002omy.2	-	6	1489	c.1264T>C	c.(1264-1266)TGT>CGT	p.C422R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C422R|ZNF780A_uc010xvh.1_Missense_Mutation_p.C423R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	422	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40882661	40882661	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40882661A>G	uc002onm.3	+	11	1563	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PLD3_uc002onj.3_Missense_Mutation_p.T389A|PLD3_uc002onk.3_Missense_Mutation_p.T389A|PLD3_uc002onl.3_Missense_Mutation_p.T389A|PLD3_uc002onn.2_Missense_Mutation_p.T389A	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	389	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)															---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41183257	41183257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41183257T>C	uc002oon.2	-	7	778	c.610A>G	c.(610-612)AAG>GAG	p.K204E	NUMBL_uc010xvq.1_Missense_Mutation_p.K163E|NUMBL_uc002ooo.2_Missense_Mutation_p.K204E|NUMBL_uc010xvr.1_Missense_Mutation_p.K163E	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	204	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)															---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41518216	41518216	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41518216G>A	uc002opr.1	+	7	985	c.978G>A	c.(976-978)AGG>AGA	p.R326R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.R126R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	326					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)													---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594537	41594537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41594537T>A	uc002opt.2	+	1	170	c.161T>A	c.(160-162)ATG>AAG	p.M54K		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	54					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)													---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41704403	41704403	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41704403C>T	uc002opw.2	+	4	585	c.530C>T	c.(529-531)GCC>GTC	p.A177V	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1																		---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41808566	41808566	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41808566C>A	uc002oqb.3	+						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_Intron|HNRNPUL1_uc010eho.2_Intron|HNRNPUL1_uc010xvy.1_Intron|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.L86I	NM_007040	NP_008971			heterogeneous nuclear ribonucleoprotein U-like 1						nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825542	41825542	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41825542T>A	uc002oqg.2	+	3	688	c.566T>A	c.(565-567)ATC>AAC	p.I189N	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	189											0																		---	---	---	---
TMEM91	641649	broad.mit.edu	37	19	41889623	41889623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41889623A>G	uc002oqk.3	+	4	715	c.364A>G	c.(364-366)AAC>GAC	p.N122D	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_3'UTR|TMEM91_uc010ehq.2_Intron|TMEM91_uc002oql.2_3'UTR|TMEM91_uc010ehr.2_Intron|TMEM91_uc010ehs.2_Intron|TMEM91_uc010eht.2_Intron|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_3'UTR	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	122					response to biotic stimulus	integral to membrane					0																		---	---	---	---
B3GNT8	374907	broad.mit.edu	37	19	41931597	41931597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41931597T>C	uc002oqs.2	-	3	1541	c.1087A>G	c.(1087-1089)ACT>GCT	p.T363A	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	363	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41937145	41937145	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41937145T>C	uc010xvw.1	+						B3GNT8_uc002oqs.2_5'Flank					SubName: Full=cDNA FLJ51986, highly similar to Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA;						naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0																		---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42301727	42301727	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42301727C>A	uc002orn.1	+	2	347	c.271C>A	c.(271-273)CCA>ACA	p.P91T	CEACAM3_uc010eia.1_Missense_Mutation_p.P91T|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	91	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1																		---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383300	42383300	+	Missense_Mutation	SNP	G	A	A	rs143511203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383300G>A	uc002orv.2	+	2	505	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	107	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383344	42383344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383344T>C	uc002orv.2	+	2	549	c.364T>C	c.(364-366)TAC>CAC	p.Y122H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	122	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42557982G>A	uc002osj.1	-	9	1191	c.1156C>T	c.(1156-1158)CGT>TGT	p.R386C	GRIK5_uc010eib.1_Missense_Mutation_p.R305C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	386	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584439	42584439	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584439A>G	uc002osm.3	+	2	1850	c.1681A>G	c.(1681-1683)ACG>GCG	p.T561A	ZNF574_uc002osk.3_Missense_Mutation_p.T651A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	561	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584644	42584644	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584644T>A	uc002osm.3	+	2	2055	c.1886T>A	c.(1885-1887)GTC>GAC	p.V629D	ZNF574_uc002osk.3_Missense_Mutation_p.V719D	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	629	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753689	42753689	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42753689C>T	uc002ote.3	-	4	733	c.575G>A	c.(574-576)GGC>GAC	p.G192D	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	192					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)																---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827839	42827839	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42827839T>C	uc002otk.1	+	14	1351	c.1299T>C	c.(1297-1299)GCT>GCC	p.A433A	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	433						integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42861608	42861608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42861608G>A	uc002otl.3	+	27	5317	c.4682G>A	c.(4681-4683)CGC>CAC	p.R1561H	MEGF8_uc002otm.3_Missense_Mutation_p.R1169H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1628	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42911548	42911548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42911548G>A	uc002otr.2	-	6	2192	c.1915C>T	c.(1915-1917)CAG>TAG	p.Q639*	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	639					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)																---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43015763	43015763	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43015763T>C	uc002otv.2	-	7	1507	c.1394A>G	c.(1393-1395)GAT>GGT	p.D465G	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Missense_Mutation_p.D400G|CEACAM1_uc002oty.2_Missense_Mutation_p.D369G|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Missense_Mutation_p.D191G	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	465	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)													---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43420352	43420352	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43420352A>T	uc002ovj.1	-	2	404	c.352T>A	c.(352-354)TCC>ACC	p.S118T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.S118T|PSG6_uc002ovg.1_Missense_Mutation_p.S118T	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43439553	43439553	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439553C>T	uc002ovh.1	-						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc002ovl.3_Intron|PSG7_uc010xwl.1_Intron					SubName: Full=Putative uncharacterized protein PSG6;						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439623	43439623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439623A>G	uc002ovl.3	-	3	465	c.363T>C	c.(361-363)ACT>ACC	p.T121T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	121	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43683057	43683057	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43683057C>T	uc002ovu.2	-						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Intron|PSG5_uc002ovv.2_Missense_Mutation_p.S228N|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772			pregnancy specific beta-1-glycoprotein 5						female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)																---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43968517	43968517	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43968517G>A	uc002owl.1	-	2	279	c.171C>T	c.(169-171)GGC>GGT	p.G57G	LYPD3_uc002owm.2_Silent_p.G57G	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	57	UPAR/Ly6 1.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)																---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44278390	44278390	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44278390G>T	uc002oxl.2	-	3	1033	c.637C>A	c.(637-639)CTT>ATT	p.L213I	KCNN4_uc010eiz.2_Missense_Mutation_p.L126I|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	213	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44339699	44339699	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44339699C>A	uc002oxr.3	+	5	433	c.165C>A	c.(163-165)TCC>TCA	p.S55S	ZNF283_uc002oxp.3_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---
ZNF45	7596	broad.mit.edu	37	19	44418273	44418273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44418273T>C	uc002oxu.1	-	4	1414	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	ZNF45_uc002oxw.1_Missense_Mutation_p.T439A|ZNF45_uc002oxv.1_Missense_Mutation_p.T439A	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	439					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44564934	44564934	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44564934T>C	uc002oyf.1	+	4	428	c.175T>C	c.(175-177)TTT>CTT	p.F59L	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44738911	44738911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44738911T>A	uc002oyu.2	+	6	533	c.328T>A	c.(328-330)TCA>ACA	p.S110T	ZNF227_uc010xwu.1_Missense_Mutation_p.S59T|ZNF227_uc002oyv.2_Missense_Mutation_p.S110T|ZNF227_uc010xwv.1_Missense_Mutation_p.S59T|ZNF227_uc010xww.1_Missense_Mutation_p.S31T|ZNF227_uc002oyw.2_Missense_Mutation_p.S82T|ZNF227_uc010ejh.2_Missense_Mutation_p.S103T|ZNF235_uc002oyx.1_RNA	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44740625	44740625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44740625G>A	uc002oyu.2	+	6	2247	c.2042G>A	c.(2041-2043)GGC>GAC	p.G681D	ZNF227_uc010xwu.1_Missense_Mutation_p.G630D|ZNF227_uc002oyv.2_Missense_Mutation_p.G681D|ZNF227_uc010xwv.1_Missense_Mutation_p.G630D|ZNF227_uc010xww.1_Missense_Mutation_p.G602D|ZNF227_uc002oyw.2_Missense_Mutation_p.G653D|ZNF227_uc010ejh.2_Missense_Mutation_p.G674D|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	681	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44777661	44777661	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44777661A>C	uc002oyz.1	+	5	975	c.848A>C	c.(847-849)GAC>GCC	p.D283A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.D98A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44778453	44778453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44778453A>G	uc002oyz.1	+	5	1767	c.1640A>G	c.(1639-1641)CAG>CGG	p.Q547R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q362R	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44890966	44890966	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44890966C>A	uc002ozd.3	-	4	1528	c.1441G>T	c.(1441-1443)GAA>TAA	p.E481*	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.E488*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44892260	44892260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44892260G>A	uc002ozd.3	-	4	234	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D56D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933132	44933132	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44933132A>G	uc002oze.1	-	6	2258	c.1824T>C	c.(1822-1824)GGT>GGC	p.G608G	ZNF229_uc010ejk.1_Silent_p.G262G|ZNF229_uc010ejl.1_Silent_p.G602G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	608	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45209070	45209070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45209070A>G	uc010xxd.1	+	5	1078	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	CEACAM16_uc002ozq.2_Missense_Mutation_p.Y350C	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	291										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)																---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381765	45381765	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45381765A>G	uc002ozw.1	+						PVRL2_uc002ozv.2_Missense_Mutation_p.E443G	NM_001042724	NP_001036189			poliovirus receptor related 2 isoform delta						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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45391415	45391415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45391415C>T	uc002ozw.1	+	9	1786	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	466	Cytoplasmic (Potential).				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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
APOC2	344	broad.mit.edu	37	19	45452442	45452442	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45452442C>A	uc002pah.2	+	4	345	c.242C>A	c.(241-243)GCC>GAC	p.A81D		NM_000483	NP_000474	P02655	APOC2_HUMAN	apolipoprotein C-II precursor	81					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity			kidney(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)														---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45477800	45477800	+	Silent	SNP	C	T	T	rs150833300	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45477800C>T	uc002pai.2	+	4	429	c.414C>T	c.(412-414)AGC>AGT	p.S138S	CLPTM1_uc010ejv.1_Silent_p.S36S|CLPTM1_uc010xxf.1_Silent_p.S36S|CLPTM1_uc010xxg.1_Silent_p.S124S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	138	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---
RELB	5971	broad.mit.edu	37	19	45540714	45540714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45540714G>A	uc002paj.1	+	13	1532	c.1406G>A	c.(1405-1407)GGC>GAC	p.G469D	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	469						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)														---	---	---	---
SFRS16	11129	broad.mit.edu	37	19	45573341	45573341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45573341C>T	uc002pak.2	+	19	2034	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R584C|SFRS16_uc002pam.2_Missense_Mutation_p.R627C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	646	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45656571	45656571	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45656571C>T	uc010xxi.1	-	4	1124	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)														---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45860791	45860791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45860791C>T	uc002pbj.2	-	14	1365	c.1318G>A	c.(1318-1320)GCC>ACC	p.A440T	ERCC2_uc002pbh.2_Missense_Mutation_p.A3T|ERCC2_uc002pbi.2_Missense_Mutation_p.A133T|ERCC2_uc010ejz.2_Missense_Mutation_p.A362T|ERCC2_uc002pbk.2_Missense_Mutation_p.A416T	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	440	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45873415	45873415	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45873415C>T	uc002pbj.2	-	2	128	c.81G>A	c.(79-81)GAG>GAA	p.E27E	ERCC2_uc010ejz.2_Silent_p.E27E|ERCC2_uc002pbk.2_Silent_p.E3E|ERCC2_uc002pbl.3_Silent_p.E3E|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	27	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45912637	45912637	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45912637C>T	uc002pbq.1	+	3	1899	c.1411C>T	c.(1411-1413)CGG>TGG	p.R471W	CD3EAP_uc002pbr.1_Missense_Mutation_p.R473W	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	471					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)														---	---	---	---
RTN2	6253	broad.mit.edu	37	19	45998181	45998181	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45998181C>A	uc002pcb.2	-	3	390	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	RTN2_uc002pcc.2_Missense_Mutation_p.Q54H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	54						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)														---	---	---	---
GPR4	2828	broad.mit.edu	37	19	46094232	46094232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46094232G>A	uc002pcm.2	-	2	1838	c.893C>T	c.(892-894)GCC>GTC	p.A298V	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	298	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)														---	---	---	---
EML2	24139	broad.mit.edu	37	19	46136131	46136131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46136131G>A	uc002pcn.2	-	6	533	c.498C>T	c.(496-498)GGC>GGT	p.G166G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G50G|EML2_uc010xxl.1_Silent_p.G313G|EML2_uc010xxm.1_Silent_p.G367G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G166G|EML2_uc010ekj.2_Silent_p.G166G|EML2_uc010ekk.1_5'Flank	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	166	WD 2.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)														---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46191820	46191820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46191820G>T	uc002pcw.2	-	2	304	c.7C>A	c.(7-9)CTC>ATC	p.L3I	SNRPD2_uc002pcv.2_5'UTR	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	3					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)														---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46216103	46216103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46216103C>T	uc002pcy.2	-	2	776	c.651G>A	c.(649-651)CGG>CGA	p.R217R	FBXO46_uc002pcz.2_Silent_p.R217R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	217							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)														---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46290090	46290090	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46290090G>A	uc002pdj.1	-	3	710	c.664C>T	c.(664-666)CTG>TTG	p.L222L	DMWD_uc002pdk.1_Silent_p.L222L|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	222	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46331121	46331121	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46331121C>T	uc002pdn.2	-	15	2286	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	SYMPK_uc002pdo.1_Missense_Mutation_p.V681M|SYMPK_uc002pdp.1_Missense_Mutation_p.V681M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	681					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351021	46351021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46351021T>C	uc002pdn.2	-	7	910	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	SYMPK_uc002pdo.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdp.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdq.1_Missense_Mutation_p.Y222C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	222					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375928	46375928	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46375928G>A	uc002pdr.2	+	2	862	c.665G>A	c.(664-666)GGG>GAG	p.G222E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	222					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)														---	---	---	---
NANOS2	339345	broad.mit.edu	37	19	46417579	46417579	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46417579G>A	uc002pdu.2	-	1	458	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	125					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46807198	46807198	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46807198C>A	uc002peh.2	+	2	99	c.70C>A	c.(70-72)CGC>AGC	p.R24S	HIF3A_uc002pef.1_Missense_Mutation_p.R24S|HIF3A_uc002peg.3_Missense_Mutation_p.R24S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Silent_p.P3P|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Silent_p.P3P|HIF3A_uc002pel.2_Missense_Mutation_p.R22S|HIF3A_uc010xxz.1_Silent_p.P21P	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46832527	46832527	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46832527C>T	uc002peh.2	+	12	1533	c.1504C>T	c.(1504-1506)CTC>TTC	p.L502F	HIF3A_uc002peg.3_Missense_Mutation_p.L502F|HIF3A_uc002pei.3_Missense_Mutation_p.L446F|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.L446F|HIF3A_uc010xxy.1_Missense_Mutation_p.L433F|HIF3A_uc002pel.2_Missense_Mutation_p.L500F|HIF3A_uc010xxz.1_Missense_Mutation_p.L451F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914494	46914494	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46914494G>A	uc002pep.2	-	1	2426	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	525	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)														---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47226079	47226079	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47226079G>A	uc002pfl.2	-	14	1927	c.1894C>T	c.(1894-1896)CGG>TGG	p.R632W	STRN4_uc002pfm.2_Missense_Mutation_p.R639W|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	632						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)														---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47280550	47280550	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47280550C>T	uc002pfs.2	-	6	1791	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T	SLC1A5_uc010xyh.1_Missense_Mutation_p.A189T|SLC1A5_uc002pfq.2_Missense_Mutation_p.A215T|SLC1A5_uc002pfr.2_Missense_Mutation_p.A163T	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	391	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)													---	---	---	---
AP2S1	1175	broad.mit.edu	37	19	47341797	47341797	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47341797C>T	uc002pft.1	-	5	516	c.336G>A	c.(334-336)ACG>ACA	p.T112T	AP2S1_uc002pfu.1_Silent_p.T74T	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	112					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---
GRLF1	2909	broad.mit.edu	37	19	47424547	47424547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47424547C>T	uc010ekv.2	+	1	2615	c.2615C>T	c.(2614-2616)GCC>GTC	p.A872V		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	872					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)														---	---	---	---
BBC3	27113	broad.mit.edu	37	19	47725161	47725161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47725161C>T	uc002pgf.3	-	4	761	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	BBC3_uc010xyl.1_Missense_Mutation_p.A195T|BBC3_uc010eky.2_Silent_p.Q98Q|BBC3_uc010ekz.2_Missense_Mutation_p.A35T	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3 isoform 4	160					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding				0		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48006736	48006736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48006736G>A	uc002pha.1	-	2	422	c.122C>T	c.(121-123)GCA>GTA	p.A41V	NAPA_uc002phb.1_Missense_Mutation_p.A41V|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Missense_Mutation_p.A41V|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Missense_Mutation_p.A41V	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	41					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48018088	48018088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48018088C>T	uc002pha.1	-						NAPA_uc002phb.1_Intron|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Intron|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Intron	NM_003827	NP_003818			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48239750	48239750	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48239750A>G	uc002phj.3	+	5	1290	c.1040A>G	c.(1039-1041)CAC>CGC	p.H347R	EHD2_uc010xyu.1_Missense_Mutation_p.H211R|EHD2_uc010xyv.1_Missense_Mutation_p.H30R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	347					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244520	48244520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48525436C>T	uc002pht.2	+	6	679	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	175					single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48624533	48624533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48624533A>G	uc002pia.1	-	24	2399	c.2279T>C	c.(2278-2280)GTG>GCG	p.V760A	LIG1_uc010xze.1_Missense_Mutation_p.V453A|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V692A|LIG1_uc010xzg.1_Missense_Mutation_p.V729A	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	760					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48626233	48626233	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48626233A>G	uc002pia.1	-	23	2310	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D	LIG1_uc010xze.1_Silent_p.D423D|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.D662D|LIG1_uc010xzg.1_Silent_p.D699D	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	730					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
SULT2B1	6820	broad.mit.edu	37	19	49100124	49100124	+	Silent	SNP	G	A	A	rs112884737		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49100124G>A	uc002pjl.2	+	6	855	c.774G>A	c.(772-774)ACG>ACA	p.T258T	SULT2B1_uc002pjm.2_Silent_p.T243T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	258					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)														---	---	---	---
IZUMO1	284359	broad.mit.edu	37	19	49247440	49247440	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49247440T>C	uc002pkj.2	-	5	958	c.410A>G	c.(409-411)AAC>AGC	p.N137S	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	137	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)														---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49310321	49310321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49310321C>T	uc002pkr.2	-	2	72	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.R12Q|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	12						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)													---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49398379	49398379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49398379C>T	uc002pkz.2	-	6	541	c.390G>A	c.(388-390)TGG>TGA	p.W130*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	130					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49478000	49478000	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49478000C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49489102	49489102	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49489102C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
RUVBL2	10856	broad.mit.edu	37	19	49514574	49514574	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49514574C>T	uc002plr.1	+						RUVBL2_uc002plq.1_Intron|RUVBL2_uc002pls.1_Intron|RUVBL2_uc010emn.1_Intron|RUVBL2_uc010yac.1_Intron	NM_006666	NP_006657			RuvB-like 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)														---	---	---	---
CD37	951	broad.mit.edu	37	19	49842077	49842077	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49842077T>A	uc002pnd.2	+	6	689	c.568T>A	c.(568-570)TCC>ACC	p.S190T	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S190T|CD37_uc010yan.1_Missense_Mutation_p.S122T|CD37_uc002pnf.3_Missense_Mutation_p.S162T|CD37_uc002pne.2_Missense_Mutation_p.S122T	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	190	Extracellular (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)														---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49862738	49862738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49862738G>A	uc002pnj.2	-	3	342	c.251C>T	c.(250-252)GCC>GTC	p.A84V	TEAD2_uc002png.2_Missense_Mutation_p.A84V|TEAD2_uc002pnh.2_Missense_Mutation_p.A84V|TEAD2_uc002pni.2_Missense_Mutation_p.A84V|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.A84V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	84	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)														---	---	---	---
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50042431A>T	uc002poj.2	+	5	1121	c.674A>T	c.(673-675)TAC>TTC	p.Y225F		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)														---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098300	50098300	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50098300A>G	uc002poo.3	+	4	708	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	22	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50213650	50213650	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50213650C>A	uc002ppj.2	+	14	1845	c.1640C>A	c.(1639-1641)CCA>CAA	p.P547Q	CPT1C_uc002ppl.3_Missense_Mutation_p.P513Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P464Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P536Q|CPT1C_uc010eng.2_Missense_Mutation_p.P547Q|CPT1C_uc010enh.2_Missense_Mutation_p.P547Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P418Q|CPT1C_uc010eni.1_Missense_Mutation_p.P204Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	547	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50358001	50358001	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50358001G>A	uc002pqf.1	+						PTOV1_uc010ybf.1_Intron|PTOV1_uc002ppz.3_Intron|PTOV1_uc002pqb.3_Intron|PTOV1_uc002pqa.2_Intron|PTOV1_uc002pqc.1_Intron|PTOV1_uc002pqd.2_Intron|PTOV1_uc002pqe.1_Intron	NM_017432	NP_059128			prostate tumor overexpressed 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)														---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50364536	50364536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50364536C>T	uc002pqh.2	-	16	1587	c.1535G>A	c.(1534-1536)GGG>GAG	p.G512E	PNKP_uc002pqg.2_Missense_Mutation_p.G293E|PNKP_uc002pqi.2_Missense_Mutation_p.G473E|PNKP_uc002pqj.2_Missense_Mutation_p.G512E|PNKP_uc010enm.2_Missense_Mutation_p.G481E|PNKP_uc002pqk.2_3'UTR	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	512					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)									Other_BER_factors					---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50747562	50747562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50747562A>G	uc002prr.1	+	10	1201	c.1154A>G	c.(1153-1155)AAC>AGC	p.N385S	MYH14_uc010enu.1_Missense_Mutation_p.N393S|MYH14_uc002prq.1_Missense_Mutation_p.N393S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	385	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50861982	50861982	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50861982G>T	uc002prx.2	-	9	1144	c.1091C>A	c.(1090-1092)CCT>CAT	p.P364H	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	364					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862307	50862307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50862307C>T	uc002prx.2	-	8	1049	c.996G>A	c.(994-996)GGG>GGA	p.G332G	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	332					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NR1H2	7376	broad.mit.edu	37	19	50881803	50881803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50881803G>A	uc010enw.2	+	6	773	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R166Q|NR1H2_uc002psa.3_Missense_Mutation_p.R69Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	166					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)														---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905974	50905974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50905974G>A	uc002psb.3	+	8	1002	c.946G>A	c.(946-948)GAT>AAT	p.D316N	POLD1_uc002psc.3_Missense_Mutation_p.D316N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D316N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	316					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50909587	50909587	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50909587C>T	uc002psb.3	+						POLD1_uc002psc.3_Intron|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Intron	NM_002691	NP_002682			DNA-directed DNA polymerase delta 1						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51022237	51022237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51022237G>A	uc002pss.2	-	3	870	c.733C>T	c.(733-735)CGC>TGC	p.R245C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	245	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51189547	51189547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51189547C>T	uc002psx.1	-	20	2543	c.2524G>A	c.(2524-2526)GGT>AGT	p.G842S	SHANK1_uc002psw.1_Missense_Mutation_p.G226S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	842					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51219729	51219729	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51219729G>A	uc002psx.1	-	2	281	c.262C>T	c.(262-264)CTT>TTT	p.L88F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	88					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51297733	51297733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51297733C>T	uc002pta.1	+	9	881	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	294	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329891	51329891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51329891C>T	uc002ptl.2	-	4	635	c.604G>A	c.(604-606)GCA>ACA	p.A202T	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A201T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	202	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)														---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51452276	51452276	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51452276C>A	uc002pue.2	-	5	649	c.431G>T	c.(430-432)GGC>GTC	p.G144V	KLK5_uc002puf.2_Missense_Mutation_p.G144V|KLK5_uc002pug.2_Missense_Mutation_p.G144V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	144	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51465041	51465041	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51465041A>C	uc002pui.2	-	6	801	c.541T>G	c.(541-543)TTG>GTG	p.L181V	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.L190V|KLK6_uc002puj.2_Missense_Mutation_p.L74V|KLK6_uc010ycn.1_Missense_Mutation_p.L74V|KLK6_uc002pul.2_Missense_Mutation_p.L181V|KLK6_uc002pum.2_Missense_Mutation_p.L74V	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	181	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)														---	---	---	---
KLK10	5655	broad.mit.edu	37	19	51518083	51518083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51518083C>T	uc002puy.2	-	6	885	c.804G>A	c.(802-804)TGG>TGA	p.W268*	KLK10_uc002puz.2_Nonsense_Mutation_p.W268*|KLK10_uc002pva.2_Nonsense_Mutation_p.W268*	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	268	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.W268C(1)		lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)														---	---	---	---
CD33	945	broad.mit.edu	37	19	51728581	51728581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51728581T>C	uc002pwa.2	+	2	185	c.145T>C	c.(145-147)TAC>CAC	p.Y49H	CD33_uc010eos.1_Missense_Mutation_p.Y49H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	49	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)													---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51857744	51857744	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51857744T>A	uc002pwh.2	-						ETFB_uc002pwg.2_Missense_Mutation_p.D50V	NM_001985	NP_001976			electron-transfer-flavoprotein, beta polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)														---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52132322	52132322	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52132322T>C	uc002pxe.2	-	4	847	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	236	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52216730	52216730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52216730C>T	uc002pxo.1	-	5	1722	c.1687G>A	c.(1687-1689)GTG>ATG	p.V563M	HAS1_uc010epc.1_Missense_Mutation_p.V163M|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.V570M|HAS1_uc002pxp.1_Missense_Mutation_p.V562M	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	563	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52219570	52219570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52219570A>C	uc002pxo.1	-	4	1035	c.1000T>G	c.(1000-1002)TGT>GGT	p.C334G	HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Missense_Mutation_p.C299G|HAS1_uc002pxn.1_Missense_Mutation_p.C341G|HAS1_uc002pxp.1_Missense_Mutation_p.C333G	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	334	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.C334Y(1)		ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52399760	52399760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52399760G>A	uc002pxy.2	-	4	471	c.203C>T	c.(202-204)ACA>ATA	p.T68I		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448122	52448122	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448122C>G	uc002pxz.1	+	6	1409	c.986C>G	c.(985-987)TCC>TGC	p.S329C	ZNF613_uc002pya.1_Missense_Mutation_p.S293C	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	329	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448840	52448840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448840T>C	uc002pxz.1	+	6	2127	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52469030	52469030	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52469030C>T	uc002pyd.2	-	5	904	c.676G>A	c.(676-678)GTA>ATA	p.V226I	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	226	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496490	52496490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52496490T>C	uc002pye.1	-	6	2131	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M	ZNF615_uc002pyf.1_Missense_Mutation_p.I624M|ZNF615_uc002pyg.1_Missense_Mutation_p.I505M|ZNF615_uc002pyh.1_Missense_Mutation_p.I624M|ZNF615_uc010epi.1_Missense_Mutation_p.I620M|ZNF615_uc010ydg.1_Missense_Mutation_p.I618M	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	613	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52520093	52520093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52520093T>C	uc002pyj.2	-	5	1160	c.758A>G	c.(757-759)AAT>AGT	p.N253S	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521298	52521298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52521298C>T	uc002pyj.2	-	4	603	c.201G>A	c.(199-201)TGG>TGA	p.W67*	ZNF614_uc002pyi.3_Nonsense_Mutation_p.W67*|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52619658A>T	uc002pym.2	-	4	1042	c.759T>A	c.(757-759)AAT>AAA	p.N253K	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)														---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52658789	52658789	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52658789G>T	uc010ydi.1	-	5	2521	c.2147C>A	c.(2146-2148)CCT>CAT	p.P716H	ZNF836_uc010ydj.1_Missense_Mutation_p.P716H	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716	C2H2-type 18; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659094	52659094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659094C>T	uc010ydi.1	-	5	2216	c.1842G>A	c.(1840-1842)GTG>GTA	p.V614V	ZNF836_uc010ydj.1_Silent_p.V614V	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	614	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659268	52659268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659268A>G	uc010ydi.1	-	5	2042	c.1668T>C	c.(1666-1668)TGT>TGC	p.C556C	ZNF836_uc010ydj.1_Silent_p.C556C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF766	90321	broad.mit.edu	37	19	52785388	52785388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52785388G>A	uc002pyr.1	+	2	86	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF766_uc002pys.1_Missense_Mutation_p.A15T|ZNF766_uc002pyt.1_Missense_Mutation_p.A30T	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)														---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52825414	52825414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52825414G>A	uc010ydl.1	+	5	981	c.911G>A	c.(910-912)CGA>CAA	p.R304Q	ZNF480_uc002pyv.2_Missense_Mutation_p.R227Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R261Q|ZNF480_uc010epn.2_Missense_Mutation_p.R135Q|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)														---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53057596	53057596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53057596T>C	uc010epq.1	+	5	1604	c.1427T>C	c.(1426-1428)ATT>ACT	p.I476T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)														---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53117122	53117122	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53117122A>C	uc002pzu.3	-	2	1940	c.696T>G	c.(694-696)CCT>CCG	p.P232P	ZNF83_uc002pzv.3_Silent_p.P232P|ZNF83_uc010eps.2_Silent_p.P232P|ZNF83_uc010ept.2_Silent_p.P232P|ZNF83_uc010epu.2_Silent_p.P232P|ZNF83_uc010epv.2_Silent_p.P232P|ZNF83_uc010epw.2_Silent_p.P232P|ZNF83_uc010epx.2_Silent_p.P232P|ZNF83_uc010epy.2_Silent_p.P232P|ZNF83_uc010epz.2_Silent_p.P232P|ZNF83_uc010eqb.1_Silent_p.P232P	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53209608	53209608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53209608T>G	uc002pzz.2	-	7	1017	c.700A>C	c.(700-702)AAT>CAT	p.N234H	ZNF611_uc010eqc.2_Missense_Mutation_p.N164H|ZNF611_uc010ydo.1_Missense_Mutation_p.N164H|ZNF611_uc010ydr.1_Missense_Mutation_p.N165H|ZNF611_uc010ydp.1_Missense_Mutation_p.N234H|ZNF611_uc010ydq.1_Missense_Mutation_p.N234H|ZNF611_uc002qaa.3_Missense_Mutation_p.N164H	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	234	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53210049	53210049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53210049T>C	uc002pzz.2	-	7	576	c.259A>G	c.(259-261)ACA>GCA	p.T87A	ZNF611_uc010eqc.2_Missense_Mutation_p.T17A|ZNF611_uc010ydo.1_Missense_Mutation_p.T17A|ZNF611_uc010ydr.1_Missense_Mutation_p.T18A|ZNF611_uc010ydp.1_Missense_Mutation_p.T87A|ZNF611_uc010ydq.1_Missense_Mutation_p.T87A|ZNF611_uc002qaa.3_Missense_Mutation_p.T17A	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270810	53270810	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53270810T>A	uc002qab.3	-	3	485	c.199A>T	c.(199-201)ACT>TCT	p.T67S		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)														---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303561	53303561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53303561G>A	uc002qad.2	-	4	1657	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	ZNF28_uc002qac.2_Missense_Mutation_p.H460Y|ZNF28_uc010eqe.2_Missense_Mutation_p.H459Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384506	53384506	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53384506A>T	uc002qag.2	-	4	1064	c.873T>A	c.(871-873)CAT>CAA	p.H291Q	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.H237Q|ZNF320_uc002qai.2_Missense_Mutation_p.H291Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	291	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)														---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572543	53572543	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53572543T>C	uc010eqk.2	-	7	1660	c.1244A>G	c.(1243-1245)CAT>CGT	p.H415R	ZNF160_uc002qaq.3_Missense_Mutation_p.H415R|ZNF160_uc002qar.3_Missense_Mutation_p.H415R	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	415	C2H2-type 6.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)														---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612488	53612488	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53612488T>C	uc002qax.2	-	7	1303	c.954A>G	c.(952-954)AAA>AAG	p.K318K	ZNF415_uc002qat.2_Silent_p.K282K|ZNF415_uc002qaw.2_Silent_p.K270K|ZNF415_uc010yds.1_Silent_p.K270K|ZNF415_uc010ydt.1_Silent_p.K270K|ZNF415_uc002qau.2_Silent_p.K257K|ZNF415_uc002qav.2_Silent_p.K282K|ZNF415_uc002qba.2_Silent_p.K40K|ZNF415_uc002qay.2_Silent_p.K257K|ZNF415_uc002qaz.2_Silent_p.K318K	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)														---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669504	53669504	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53669504C>T	uc010eqm.1	-	4	339	c.239G>A	c.(238-240)AGC>AAC	p.S80N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)														---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54139969	54139969	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54139969G>A	uc002qcf.1	+	3	354	c.303G>A	c.(301-303)CTG>CTA	p.L101L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)														---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401279	54401279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401279C>T	uc002qcq.1	+	10	1288	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	PRKCG_uc010yef.1_Silent_p.S306S|PRKCG_uc010yeg.1_Missense_Mutation_p.R336C|PRKCG_uc010yeh.1_Missense_Mutation_p.R223C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	336					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)														---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444820	54444820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)														---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54627208	54627208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54627208G>A	uc002qdh.2	+	7	1004	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PRPF31_uc010yek.1_Missense_Mutation_p.R203H	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	203	Nop.|				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
RPS9	6203	broad.mit.edu	37	19	54710226	54710226	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54710226G>A	uc002qdx.2	+	4	359	c.303G>A	c.(301-303)AAG>AAA	p.K101K	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Silent_p.K101K|RPS9_uc002qea.2_Silent_p.K101K|RPS9_uc002qeb.2_Silent_p.K101K|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Silent_p.K101K	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	101					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)														---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780709	54780709	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780709G>A	uc002qfb.2	-	10	1701	c.1435C>T	c.(1435-1437)CTC>TTC	p.L479F	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L479F|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L478F|LILRB2_uc010yet.1_Missense_Mutation_p.L363F	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54871688	54871688	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54871688A>C	uc002qfk.1	-						LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Intron|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Intron|LAIR1_uc002qfo.2_Intron	NM_002287	NP_002278			leukocyte-associated immunoglobulin-like							integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54966185	54966185	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54966185T>C	uc002qfv.1	+	6	768	c.624T>C	c.(622-624)GTT>GTC	p.V208V	LENG8_uc002qfw.2_Silent_p.V245V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	208							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969365	54969365	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969365T>C	uc002qfv.1	+	13	2019	c.1875T>C	c.(1873-1875)TTT>TTC	p.F625F	LENG8_uc002qfw.2_Silent_p.F662F			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	625							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969555	54969555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969555G>A	uc002qfv.1	+	14	2128	c.1984G>A	c.(1984-1986)GCC>ACC	p.A662T	LENG8_uc002qfw.2_Missense_Mutation_p.A699T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	662							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106363	55106363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55106363A>G	uc002qgh.1	+	4	486	c.304A>G	c.(304-306)AGC>GGC	p.S102G	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S102G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	102	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107772	55107772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55107772G>A	uc002qgh.1	+	7	1259	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	LILRA2_uc010yfg.1_Silent_p.K357K|LILRA1_uc010yfh.1_Silent_p.K359K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	359	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
KIR2DL1	3802	broad.mit.edu	37	19	55282338	55282338	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55282338T>C	uc002qhb.1	+	2	108	c.70_splice	c.e2+2	p.G24_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.G24_splice	NM_014218	NP_055033			killer cell immunoglobulin-like receptor, two						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396944	55396944	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55396944A>G	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55445028	55445028	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55445028G>T	uc002qih.3	-	8	2627	c.2551C>A	c.(2551-2553)CTG>ATG	p.L851M	NLRP7_uc002qig.3_Missense_Mutation_p.L823M|NLRP7_uc002qii.3_Missense_Mutation_p.L851M|NLRP7_uc010esk.2_Missense_Mutation_p.L851M|NLRP7_uc010esl.2_Missense_Mutation_p.L879M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	851	LRR 6.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
GP6	51206	broad.mit.edu	37	19	55525614	55525614	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55525614G>T	uc002qik.2	-	8					GP6_uc002qil.2_Missense_Mutation_p.L567I|GP6_uc010esq.2_3'UTR	NM_016363	NP_057447			glycoprotein VI (platelet) isoform 2						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597335	55597335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55597335A>G	uc002qis.3	+	15	1616	c.1512A>G	c.(1510-1512)GTA>GTG	p.V504V	EPS8L1_uc010ess.1_Silent_p.V518V|EPS8L1_uc010yfr.1_Silent_p.V440V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.V377V|EPS8L1_uc002qiv.2_Silent_p.V182V|EPS8L1_uc002qiw.2_Silent_p.V283V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	504	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)														---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55644293	55644293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55644293C>T	uc002qjb.3	-	14	916	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TNNT1_uc002qiz.3_Missense_Mutation_p.R190H|TNNT1_uc002qja.3_Missense_Mutation_p.R190H|TNNT1_uc002qjc.3_Missense_Mutation_p.R260H|TNNT1_uc002qje.3_Missense_Mutation_p.R249H|TNNT1_uc002qjd.3_Missense_Mutation_p.R249H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	276					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)														---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089958	56089958	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56089958C>T	uc002qlh.2	-	2	1101	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56166521	56166521	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56166521T>C	uc002qlu.2	+	1	1104	c.49_splice	c.e1+2	p.E17_splice	U2AF2_uc002qlt.2_Splice_Site_p.E17_splice	NM_007279	NP_009210			U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56203213	56203213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56203213G>A	uc002qlw.2	+	7	1198	c.856G>A	c.(856-858)GTC>ATC	p.V286I	EPN1_uc002qlv.2_Missense_Mutation_p.V261I|EPN1_uc010etd.2_Missense_Mutation_p.V286I|EPN1_uc002qlx.2_Missense_Mutation_p.V372I	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	286	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)														---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243849	56243849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243849C>A	uc002qly.2	-	2	1376	c.1348G>T	c.(1348-1350)GAG>TAG	p.E450*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	450	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56300170	56300170	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56300170T>C	uc010ygf.1	-						NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron	NM_145007	NP_659444			NLR family, pyrin domain containing 11								ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369592	56369592	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369592C>T	uc002qmd.3	+	3	1255	c.833C>T	c.(832-834)GCT>GTT	p.A278V	NLRP4_uc002qmf.2_Missense_Mutation_p.A203V|NLRP4_uc010etf.2_Missense_Mutation_p.A109V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	278	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369735	56369735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369735A>G	uc002qmd.3	+	3	1398	c.976A>G	c.(976-978)AAT>GAT	p.N326D	NLRP4_uc002qmf.2_Missense_Mutation_p.N251D|NLRP4_uc010etf.2_Missense_Mutation_p.N157D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	326	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370579	56370579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56370579A>G	uc002qmd.3	+	3	2242	c.1820A>G	c.(1819-1821)CAA>CGA	p.Q607R	NLRP4_uc002qmf.2_Missense_Mutation_p.Q532R|NLRP4_uc010etf.2_Missense_Mutation_p.Q438R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	607							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423337	56423337	+	Missense_Mutation	SNP	A	C	C	rs143168899		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423337A>C	uc010ygg.1	-	5	1871	c.1846T>G	c.(1846-1848)TTA>GTA	p.L616V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	616							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424639	56424639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424639C>T	uc010ygg.1	-	5	569	c.544G>A	c.(544-546)GAG>AAG	p.E182K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	182							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424657	56424657	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424657G>T	uc010ygg.1	-	5	551	c.526C>A	c.(526-528)CAC>AAC	p.H176N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	176							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443673	56443673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443673T>C	uc010ygg.1	-	1	30	c.5A>G	c.(4-6)AAC>AGC	p.N2S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	2	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56467067	56467067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56467067G>A	uc002qmh.2	+	3	1714	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	NLRP8_uc010etg.2_Missense_Mutation_p.S548N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	548						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56515301	56515301	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56515301C>T	uc002qmj.2	+	2	282	c.282C>T	c.(280-282)TGC>TGT	p.C94C	NLRP5_uc002qmi.2_Silent_p.C94C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	94	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539246	56539246	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56539246C>T	uc002qmj.2	+	7	1647	c.1647C>T	c.(1645-1647)GAC>GAT	p.D549D	NLRP5_uc002qmi.2_Silent_p.D530D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	549	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56565026	56565026	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701494	56701494	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701494T>G	uc010ygh.1	-	4	1190	c.1190A>C	c.(1189-1191)GAC>GCC	p.D397A		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	397	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56702324	56702324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56702324G>A	uc010ygh.1	-	3	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952773	56952773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56952773T>C	uc002qnd.2	-	5	1753	c.1591A>G	c.(1591-1593)ACA>GCA	p.T531A	ZNF667_uc010etl.2_Missense_Mutation_p.T313A|ZNF667_uc002qne.2_Missense_Mutation_p.T531A|ZNF667_uc010etm.2_Missense_Mutation_p.T474A	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	531	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57036632	57036632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57036632G>A	uc002qnh.2	+	5	1329	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089759	57089759	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57089759T>C	uc002qnl.3	+	6	2638	c.1962T>C	c.(1960-1962)TGT>TGC	p.C654C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	654	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)														---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133693	57133693	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57133693C>T	uc002qnm.3	+	3	1276	c.1038C>T	c.(1036-1038)CGC>CGT	p.R346R		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	346	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)														---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175250C>T	uc010ygo.1	-	2	1383	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZNF835_uc010ygn.1_Silent_p.T439T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176405	57176405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57176405G>A	uc010ygo.1	-	2	228	c.228C>T	c.(226-228)CGC>CGT	p.R76R	ZNF835_uc010ygn.1_Silent_p.R54R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327048	57327048	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57327048T>G	uc002qnu.2	-	7	3113	c.2762A>C	c.(2761-2763)GAA>GCA	p.E921A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E892A|PEG3_uc002qnv.2_Missense_Mutation_p.E921A|PEG3_uc002qnw.2_Missense_Mutation_p.E797A|PEG3_uc002qnx.2_Missense_Mutation_p.E795A|PEG3_uc010etr.2_Missense_Mutation_p.E921A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	921					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328459	57328459	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57328459G>A	uc002qnu.2	-	7	1702	c.1351C>T	c.(1351-1353)CCA>TCA	p.P451S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P422S|PEG3_uc002qnv.2_Missense_Mutation_p.P451S|PEG3_uc002qnw.2_Missense_Mutation_p.P327S|PEG3_uc002qnx.2_Missense_Mutation_p.P325S|PEG3_uc010etr.2_Missense_Mutation_p.P451S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	451					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641113	57641113	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57641113T>C	uc002qny.2	+	4	1426	c.1070T>C	c.(1069-1071)GTC>GCC	p.V357A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57647393	57647393	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57647393G>A	uc002qnz.1	-	5	698	c.312C>T	c.(310-312)GTC>GTT	p.V104V		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57724326	57724326	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57724326A>G	uc002qob.2	+	4	2274	c.1861A>G	c.(1861-1863)ACC>GCC	p.T621A		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)														---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57839292	57839292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57839292T>C	uc002qoi.1	+	4	807	c.462T>C	c.(460-462)CGT>CGC	p.R154R		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967256	57967256	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57967256C>A	uc002qos.1	-	1	599	c.599G>T	c.(598-600)AGT>ATT	p.S200I	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	200	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)														---	---	---	---
ZNF772	400720	broad.mit.edu	37	19	57984675	57984675	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57984675G>A	uc002qot.2	-	5	1698	c.1437C>T	c.(1435-1437)CGC>CGT	p.R479R	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.R438R|ZNF772_uc010ygz.1_Silent_p.R367R|ZNF772_uc010yha.1_Silent_p.R425R|ZNF772_uc002qou.2_Silent_p.R367R	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)														---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58049755	58049755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58049755G>A	uc002qpb.1	+	4	1632	c.1383G>A	c.(1381-1383)ATG>ATA	p.M461I	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.M448I	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	461	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58196633	58196633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58196633A>G	uc002qpw.3	+	2	260	c.37A>G	c.(37-39)ATG>GTG	p.M13V	ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58264668	58264668	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58264668A>C	uc002qpx.2	+	3	393	c.170A>C	c.(169-171)TAT>TCT	p.Y57S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Y57S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)														---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58290443	58290443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58290443C>A	uc002qqd.2	+	3	674	c.488C>A	c.(487-489)TCT>TAT	p.S163Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.L121I|ZNF586_uc010euh.2_Missense_Mutation_p.S120Y|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	163	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319610	58319610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58319610A>T	uc002qqg.2	-	3	1192	c.1022T>A	c.(1021-1023)GTT>GAT	p.V341D	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.V337D	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	341	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420088	58420088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420088A>G	uc002qqq.2	-	3	1757	c.1558T>C	c.(1558-1560)TAT>CAT	p.Y520H	ZNF417_uc010yhm.1_Missense_Mutation_p.Y477H|ZNF417_uc002qqr.2_Missense_Mutation_p.Y519H	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	520	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58437734	58437734	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58437734C>T	uc002qqs.1	-	4	2107	c.1815G>A	c.(1813-1815)GCG>GCA	p.A605A	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.A520A	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	605	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58438155	58438155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58438155C>T	uc002qqs.1	-	4	1686	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G380D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	465	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453338	58453338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58453338A>T	uc002qqu.2	-	3	1073	c.838T>A	c.(838-840)TCT>ACT	p.S280T	ZNF256_uc010euj.2_Missense_Mutation_p.S127T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	280	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58490577	58490577	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58490577T>C	uc002qqw.2	-	7	2089	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ZNF606_uc010yhp.1_Missense_Mutation_p.K401E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	491	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578557	58578557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58578557G>A	uc010yhq.1	+	5	837	c.741G>A	c.(739-741)ACG>ACA	p.T247T	ZNF135_uc002qre.2_Silent_p.T235T|ZNF135_uc002qrd.1_Silent_p.T193T|ZNF135_uc002qrf.2_Silent_p.T193T|ZNF135_uc002qrg.2_Silent_p.T205T|ZNF135_uc010yhr.1_Silent_p.T56T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	247					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579384	58579384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58579384A>G	uc010yhq.1	+	5	1664	c.1568A>G	c.(1567-1569)AAA>AGA	p.K523R	ZNF135_uc002qre.2_Missense_Mutation_p.K511R|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.K469R|ZNF135_uc002qrg.2_Missense_Mutation_p.K481R|ZNF135_uc010yhr.1_Missense_Mutation_p.K332R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	523					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601478	58601478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58601478G>A	uc002qri.2	-	2	466	c.157C>T	c.(157-159)CGG>TGG	p.R53W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53W	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58640601	58640601	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58640601A>C	uc002qrn.2	-	4	507	c.270T>G	c.(268-270)GGT>GGG	p.G90G	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)														---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58773443	58773443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58773443C>A	uc010euo.2	+	7	1945	c.1471C>A	c.(1471-1473)CCC>ACC	p.P491T	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.P463T|ZNF544_uc010yhy.1_Missense_Mutation_p.P463T|ZNF544_uc002qrt.3_Missense_Mutation_p.P349T|ZNF544_uc002qru.3_Missense_Mutation_p.P349T|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58805954	58805954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58805954T>C	uc002qry.1	+	4	910	c.780T>C	c.(778-780)ACT>ACC	p.T260T	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	260	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806852	58806852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58806852G>T	uc002qry.1	+	4	1808	c.1678G>T	c.(1678-1680)GAG>TAG	p.E560*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58906110	58906110	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58906110A>G	uc002qsn.2	+	6	680	c.608A>G	c.(607-609)AAC>AGC	p.N203S	RPS5_uc002qso.2_Missense_Mutation_p.N203S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	203					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)														---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58928251	58928251	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58928251G>T	uc002qsp.2	+	4	818	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q77H|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)														---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58946066	58946066	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58946066A>G	uc002qst.3	-	3	1146	c.745T>C	c.(745-747)TCC>CCC	p.S249P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	249	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)														---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58982486	58982486	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58982486C>T	uc002qsw.1	+	4	721	c.627C>T	c.(625-627)AGC>AGT	p.S209S	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58988885	58988885	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58988885A>G	uc002qsz.2	+	2	417	c.300A>G	c.(298-300)CTA>CTG	p.L100L	ZNF446_uc002qta.2_Silent_p.L100L|ZNF446_uc010eur.2_Silent_p.L100L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061206	59061206	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59061206G>T	uc002qtg.1	+	14	2374	c.2085G>T	c.(2083-2085)AAG>AAT	p.K695N	TRIM28_uc010eut.1_Missense_Mutation_p.K613N|TRIM28_uc002qth.1_Missense_Mutation_p.K310N	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	695					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)														---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	372148	372148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:372148T>C	uc002wdm.2	+	3	1015	c.509T>C	c.(508-510)CTG>CCG	p.L170P	TRIB3_uc002wdn.2_Missense_Mutation_p.L197P	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	170	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)														---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	472932	472932	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:472932T>C	uc002wdw.1	-	9	980	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	CSNK2A1_uc002wdx.1_Missense_Mutation_p.Y196C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.Y60C	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	196	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)															---	---	---	---
C20orf46	55321	broad.mit.edu	37	20	1161600	1161600	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1161600G>A	uc010gaa.1	-	3	882	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C20orf46_uc002weq.1_Silent_p.G221G	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	221						integral to membrane	protein binding			ovary(1)	1																		---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281356	1281356	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1281356G>A	uc002wes.2	+	5	544	c.308_splice	c.e5+1	p.R103_splice	SNPH_uc002wet.2_Splice_Site_p.R147_splice	NM_014723	NP_055538			syntaphilin						synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902223	1902223	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1902223T>A	uc002wfq.2	+	4	979	c.619T>A	c.(619-621)TAC>AAC	p.Y207N	SIRPA_uc010zps.1_Missense_Mutation_p.Y187N|SIRPA_uc002wfr.2_Missense_Mutation_p.Y207N|SIRPA_uc002wfs.2_Missense_Mutation_p.Y207N|SIRPA_uc002wft.2_Missense_Mutation_p.Y207N	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	207	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918072	1918072	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918072C>G	uc002wfq.2	+	9	1733	c.1373C>G	c.(1372-1374)ACC>AGC	p.T458S	SIRPA_uc010zps.1_Missense_Mutation_p.T438S|SIRPA_uc002wfr.2_Missense_Mutation_p.T458S|SIRPA_uc002wfs.2_Missense_Mutation_p.T458S|SIRPA_uc002wft.2_Missense_Mutation_p.T462S	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	458	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918165	1918165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918165C>T	uc002wfq.2	+	9	1826	c.1466C>T	c.(1465-1467)CCT>CTT	p.P489L	SIRPA_uc010zps.1_Missense_Mutation_p.P469L|SIRPA_uc002wfr.2_Missense_Mutation_p.P489L|SIRPA_uc002wfs.2_Missense_Mutation_p.P489L|SIRPA_uc002wft.2_Missense_Mutation_p.P493L	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	489	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
STK35	140901	broad.mit.edu	37	20	2097903	2097903	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2097903G>A	uc010gak.2	+	3	1484	c.1484G>A	c.(1483-1485)AGG>AAG	p.R495K	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R362K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	495	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2291695	2291695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2291695G>A	uc002wfx.3	+	4	557	c.460G>A	c.(460-462)GAG>AAG	p.E154K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	154					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)													---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2411625	2411625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2411625C>T	uc002wfy.1	+	12	1980	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)													---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2446470	2446470	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2446470A>G	uc002wfz.1	-						SNRPB_uc002wga.1_Intron|SNRPB_uc010zpv.1_Intron|SNRPB_uc002wgb.2_Intron|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859			small nuclear ribonucleoprotein polypeptide B/B'						histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2636755	2636755	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2636755G>T	uc002wgh.2	+						NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD86_uc010gaq.1_RNA|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2637611	2637611	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2637611A>T	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD57_uc002wgo.1_RNA	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774916	2774916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2774916G>A	uc002wgu.2	-	14	2189	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	CPXM1_uc010gas.2_Missense_Mutation_p.R635C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	709					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
FAM113A	64773	broad.mit.edu	37	20	2819100	2819100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2819100G>A	uc002wgz.1	-	6	1116	c.619C>T	c.(619-621)CGG>TGG	p.R207W	FAM113A_uc002whb.1_Missense_Mutation_p.R58W|FAM113A_uc002wha.1_Missense_Mutation_p.R58W|FAM113A_uc010zqa.1_Missense_Mutation_p.R54W|FAM113A_uc002whc.1_Missense_Mutation_p.R156W|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	207							hydrolase activity|protein binding			ovary(2)	2																		---	---	---	---
PTPRA	5786	broad.mit.edu	37	20	2968692	2968692	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2968692A>G	uc010zqb.1	+	6					PTPRA_uc002whj.2_Missense_Mutation_p.K181R|PTPRA_uc010zqc.1_Missense_Mutation_p.K66R|PTPRA_uc002whk.2_Missense_Mutation_p.K172R|PTPRA_uc010zqd.1_Missense_Mutation_p.K192R|PTPRA_uc002whl.2_Missense_Mutation_p.K172R|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.K172R|PTPRA_uc002who.2_5'UTR					SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3127942	3127942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3127942A>G	uc002whz.2	-	2	2086	c.1775T>C	c.(1774-1776)GTC>GCC	p.V592A	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	592					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0																		---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3262381	3262381	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3262381G>A	uc002wii.2	-	28	2569	c.2518C>T	c.(2518-2520)CTG>TTG	p.L840L	C20orf194_uc002wij.3_Silent_p.L579L|C20orf194_uc002wik.2_Silent_p.L514L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	840											0																		---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3672089	3672089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3672089C>T	uc002wja.2	-	17	4489	c.4489G>A	c.(4489-4491)GCC>ACC	p.A1497T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A136T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1497T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1497	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3888740	3888740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3888740G>A	uc002wkc.2	+	2	802	c.796G>A	c.(796-798)GTG>ATG	p.V266M	PANK2_uc002wkb.2_Translation_Start_Site|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Translation_Start_Site|PANK2_uc002wkf.2_Translation_Start_Site	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	266					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3899434	3899434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3899434G>A	uc002wkc.2	+	6	1659	c.1653G>A	c.(1651-1653)TCG>TCA	p.S551S	PANK2_uc002wkb.2_Silent_p.S260S|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.S260S|PANK2_uc002wkf.2_Silent_p.S115S|MIR103-2AS_hsa-mir-103-2-as|MI0007262_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	551					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680403	4680403	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680403C>T	uc002wku.2	+	2	900	c.537C>T	c.(535-537)TGC>TGT	p.C179C	PRNP_uc002wkv.2_Silent_p.C179C|PRNP_uc002wkw.2_Silent_p.C179C|PRNP_uc002wkx.2_Silent_p.C179C|PRNP_uc002wkt.1_Silent_p.C149C|PRNP_uc002wky.2_Silent_p.C179C|PRNP_uc010gbe.1_Silent_p.C179C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	179	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680596	4680596	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680596A>T	uc002wku.2	+	2	1093	c.730A>T	c.(730-732)ATC>TTC	p.I244F	PRNP_uc002wkv.2_Missense_Mutation_p.I244F|PRNP_uc002wkw.2_Missense_Mutation_p.I244F|PRNP_uc002wkx.2_Missense_Mutation_p.I244F|PRNP_uc002wkt.1_Missense_Mutation_p.I214F|PRNP_uc002wky.2_Missense_Mutation_p.I244F|PRNP_uc010gbe.1_Intron	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	244					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRND	23627	broad.mit.edu	37	20	4705292	4705292	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4705292G>T	uc002wkz.2	+	2	166	c.95G>T	c.(94-96)AGA>ATA	p.R32I		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	32	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0																		---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4854619	4854619	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4854619C>T	uc002wlg.1	-	11	1440	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	SLC23A2_uc010zqr.1_Silent_p.V240V|SLC23A2_uc002wlh.1_Silent_p.V355V|SLC23A2_uc002wli.2_Silent_p.V354V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	355					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5933145	5933145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5933145A>G	uc002wmi.2	+	3	601	c.224A>G	c.(223-225)TAT>TGT	p.Y75C	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.Y75C|MCM8_uc002wmk.2_Missense_Mutation_p.Y75C|MCM8_uc002wml.2_Missense_Mutation_p.Y75C|MCM8_uc010gbp.2_Missense_Mutation_p.Y75C	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5948575	5948575	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5948575G>T	uc002wmi.2	+	10	1504	c.1127G>T	c.(1126-1128)GGG>GTG	p.G376V	MCM8_uc002wmj.2_Missense_Mutation_p.G360V|MCM8_uc002wmk.2_Missense_Mutation_p.G376V|MCM8_uc002wml.2_Missense_Mutation_p.G376V|MCM8_uc010gbp.2_Missense_Mutation_p.G376V|MCM8_uc002wmm.2_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	376					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866431	7866431	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7866431A>G	uc002wmw.1	-	6	918	c.894T>C	c.(892-894)ACT>ACC	p.T298T	HAO1_uc010gbu.2_Silent_p.T298T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	298	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8703028	8703028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8703028A>G	uc002wnb.2	+	15	1544	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	PLCB1_uc010zrb.1_Missense_Mutation_p.D413G|PLCB1_uc002wna.2_Missense_Mutation_p.D514G|PLCB1_uc002wnc.1_Missense_Mutation_p.D413G|PLCB1_uc002wnd.1_Missense_Mutation_p.D91G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	514					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546626	9546626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)															---	---	---	---
ANKRD5	63926	broad.mit.edu	37	20	10019012	10019012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10019012G>A	uc002wno.2	+	3	456	c.63G>A	c.(61-63)CGG>CGA	p.R21R	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.R21R|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	21							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393240	10393240	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393240T>C	uc002wnt.1	-	3	1810	c.923A>G	c.(922-924)CAT>CGT	p.H308R	MKKS_uc002wnu.1_Missense_Mutation_p.H308R|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	308	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393443	10393443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393443C>A	uc002wnt.1	-	3	1607	c.720G>T	c.(718-720)AAG>AAT	p.K240N	MKKS_uc002wnu.1_Missense_Mutation_p.K240N|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	240	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
C20orf94	128710	broad.mit.edu	37	20	10541418	10541418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10541418A>G	uc010zre.1	+	4	368	c.188A>G	c.(187-189)CAC>CGC	p.H63R		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	63							protein binding				0																		---	---	---	---
JAG1	182	broad.mit.edu	37	20	10621534	10621534	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10621534A>G	uc002wnw.2	-	25	3612	c.3096T>C	c.(3094-3096)ACT>ACC	p.T1032T		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1032	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9														Alagille_Syndrome				---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13098372	13098372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13098372G>A	uc002wod.1	+	8	1441	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260305	13260305	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13260305C>A	uc010gce.1	+	3	409	c.403C>A	c.(403-405)CCT>ACT	p.P135T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	135						extracellular region					0																		---	---	---	---
C20orf7	79133	broad.mit.edu	37	20	13769302	13769302	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13769302T>C	uc002wom.2	+						C20orf7_uc002wol.1_Intron|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_Intron	NM_024120	NP_077025			hypothetical protein LOC79133 isoform 1						mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)																---	---	---	---
OTOR	56914	broad.mit.edu	37	20	16729574	16729574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16729574G>A	uc002wpj.2	+	2	222	c.178G>A	c.(178-180)GTT>ATT	p.V60I	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	60	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17930823	17930823	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17930823T>C	uc002wqc.2	-	8	830	c.744A>G	c.(742-744)GCA>GCG	p.A248A	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.A248A|SNX5_uc002wqe.2_Silent_p.A143A|SNX5_uc010zrt.1_Silent_p.A248A	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---
C20orf72	92667	broad.mit.edu	37	20	17970645	17970645	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17970645G>A	uc002wqh.2	+	5	1010	c.928G>A	c.(928-930)GAT>AAT	p.D310N	C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	310											0																		---	---	---	---
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18005394C>T	uc002wqi.1	-	4	957	c.714G>A	c.(712-714)CCG>CCA	p.P238P		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18163876	18163876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18163876T>C	uc002wqj.2	+	9	2540	c.1918T>C	c.(1918-1920)TAC>CAC	p.Y640H	CSRP2BP_uc002wqk.2_Missense_Mutation_p.Y512H|CSRP2BP_uc010zru.1_Missense_Mutation_p.Y511H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	640	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18523773	18523773	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18523773G>T	uc002wqz.1	+	14	2065	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V	SEC23B_uc002wra.1_Missense_Mutation_p.G541V|SEC23B_uc002wrb.1_Missense_Mutation_p.G541V|SEC23B_uc010zsb.1_Missense_Mutation_p.G523V|SEC23B_uc002wrc.1_Missense_Mutation_p.G541V	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	541					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19956264	19956264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19956264T>C	uc002wro.1	+	7	1631	c.1595T>C	c.(1594-1596)TTA>TCA	p.L532S	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.L326S	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	532					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19981487	19981487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19981487G>A	uc002wro.1	+	11	2631	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	RIN2_uc010gcu.1_Silent_p.Q432Q|RIN2_uc010gcv.1_Silent_p.Q659Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	865	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20020360	20020360	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20020360T>C	uc002wrs.2	-	12	1953	c.1921A>G	c.(1921-1923)ACC>GCC	p.T641A		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	641	HAT 12.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20029028	20029028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20029028C>T	uc002wrs.2	-	5	929	c.897G>A	c.(895-897)TGG>TGA	p.W299*	CRNKL1_uc002wrt.1_Nonsense_Mutation_p.W287*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	299	HAT 3.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20258096	20258096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20258096G>T	uc002wru.2	+	22	2866	c.2790G>T	c.(2788-2790)CAG>CAT	p.Q930H	C20orf26_uc010zse.1_Missense_Mutation_p.Q910H|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	930										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20392719	20392719	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20392719C>T	uc002wrz.2	-	38	5712	c.5569G>A	c.(5569-5571)GCA>ACA	p.A1857T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1561T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1305T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1857					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20493484	20493484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20493484G>A	uc002wrz.2	-	32	4672	c.4529C>T	c.(4528-4530)TCT>TTT	p.S1510F	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1214F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S958F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S282F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1510					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20501735	20501735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20501735A>G	uc002wrz.2	-	31	4053	c.3910T>C	c.(3910-3912)TGC>CGC	p.C1304R	RALGAPA2_uc010gcx.2_Missense_Mutation_p.C1008R|RALGAPA2_uc010zsg.1_Missense_Mutation_p.C752R|RALGAPA2_uc002wsa.1_Missense_Mutation_p.C76R	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1304					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21314803	21314803	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21314803A>T	uc002wsf.1	+	13	1308	c.1213A>T	c.(1213-1215)AAA>TAA	p.K405*	XRN2_uc002wsg.1_Nonsense_Mutation_p.K329*|XRN2_uc010zsk.1_Nonsense_Mutation_p.K351*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	405					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21367535	21367535	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21367535G>T	uc002wsf.1	+	29	2773	c.2678G>T	c.(2677-2679)TGG>TTG	p.W893L	XRN2_uc002wsg.1_Missense_Mutation_p.W817L|XRN2_uc010zsk.1_Missense_Mutation_p.W839L|XRN2_uc002wsh.1_Missense_Mutation_p.W31L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	893					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21494135	21494135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21494135C>T	uc002wsi.2	-	1	530	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	58					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2																		---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687524	21687524	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687524G>A	uc002wsj.2	+	2	789	c.735G>A	c.(733-735)ACG>ACA	p.T245T	PAX1_uc010zsl.1_Silent_p.T245T|PAX1_uc010zsm.1_Silent_p.T221T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	245					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---
FOXA2	3170	broad.mit.edu	37	20	22563705	22563705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:22563705T>C	uc002wsn.2	-	3	347	c.157A>G	c.(157-159)AGC>GGC	p.S53G	FOXA2_uc002wsm.2_Missense_Mutation_p.S59G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	53	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)																	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016554	23016554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23016554A>G	uc002wsr.2	+	1	498	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	145	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)																	---	---	---	---
THBD	7056	broad.mit.edu	37	20	23028480	23028480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)													---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23346229	23346229	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23346229C>T	uc010gdb.2	+	3	1383	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G	GZF1_uc002wsy.2_Silent_p.G403G|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.G403G	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	403					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)																	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23473618	23473618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23473618T>C	uc002wth.1	+	3	612	c.255T>C	c.(253-255)CTT>CTC	p.L85L		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)																	---	---	---	---
CST7	8530	broad.mit.edu	37	20	24930101	24930101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24930101G>A	uc002wtx.1	+	1	236	c.26G>A	c.(25-27)GGC>GAC	p.G9D		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25259027	25259027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25259027C>T	uc002wup.2	+	8	1037	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	310					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
ABHD12	26090	broad.mit.edu	37	20	25319884	25319884	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25319884T>C	uc002wus.1	-	2	433	c.295A>G	c.(295-297)AAA>GAA	p.K99E	ABHD12_uc002wuq.2_Missense_Mutation_p.K99E|ABHD12_uc002wur.2_Missense_Mutation_p.K99E|ABHD12_uc002wut.1_Missense_Mutation_p.K99E|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	99	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1																		---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25405924	25405924	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25405924T>C	uc002wuv.1	+	5	542	c.408T>C	c.(406-408)ATT>ATC	p.I136I	GINS1_uc010zte.1_RNA	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	136					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
NINL	22981	broad.mit.edu	37	20	25456724	25456724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25456724A>G	uc002wux.1	-	17	3277	c.3203T>C	c.(3202-3204)GTC>GCC	p.V1068A	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1068	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
HM13	81502	broad.mit.edu	37	20	30115329	30115329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30115329G>A	uc002wwe.2	+	2	340	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HM13_uc002wwc.2_Missense_Mutation_p.A76T|HM13_uc002wwd.2_Missense_Mutation_p.A76T|HM13_uc002wwb.1_Missense_Mutation_p.A76T	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	76	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231252	30231252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231252G>A	uc002wwj.1	+	4	368	c.293G>A	c.(292-294)CGC>CAC	p.R98H	COX4I2_uc002wwi.2_Missense_Mutation_p.R98H	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	98					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231301	30231301	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231301A>T	uc002wwj.1	+	4	417	c.342A>T	c.(340-342)GGA>GGT	p.G114G	COX4I2_uc002wwi.2_Silent_p.G114G	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	114					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30486365	30486365	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30486365A>C	uc010gdx.1	+	4	456	c.203A>C	c.(202-204)AAG>ACG	p.K68T	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.E77D|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	68	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30556122	30556122	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30556122G>A	uc002wxe.2	+	1	318	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	48						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584555	30584555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30584555A>G	uc002wxe.2	+	3	1209	c.1035A>G	c.(1033-1035)CAA>CAG	p.Q345Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	345						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30585102	30585102	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30585102C>T	uc002wxe.2	+	3	1756	c.1582C>T	c.(1582-1584)CCT>TCT	p.P528S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	528						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
C20orf160	140706	broad.mit.edu	37	20	30610484	30610484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4																		---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024914	31024914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31024914C>A	uc002wxs.2	+	12	4825	c.4399C>A	c.(4399-4401)CTT>ATT	p.L1467I	ASXL1_uc010geb.2_Missense_Mutation_p.L1358I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
C20orf112	140688	broad.mit.edu	37	20	31041214	31041214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31041214T>C	uc002wxu.3	-	5	815	c.658A>G	c.(658-660)ATC>GTC	p.I220V	C20orf112_uc010gec.2_Missense_Mutation_p.I45V	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	220											0																		---	---	---	---
C20orf186	149954	broad.mit.edu	37	20	31676772	31676772	+	Silent	SNP	G	A	A	rs149304342		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31676772G>A	uc010zue.1	+	6	942	c.927G>A	c.(925-927)GGG>GGA	p.G309G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	309						cytoplasm|extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825664	31825664	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825664A>G	uc002wyv.2	+	2	217	c.147A>G	c.(145-147)GGA>GGG	p.G49G	PLUNC_uc002wyt.3_Silent_p.G49G|PLUNC_uc002wyu.3_Silent_p.G49G	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	49					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825986	31825986	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825986A>G	uc002wyv.2	+	3	356	c.286A>G	c.(286-288)ACG>GCG	p.T96A	PLUNC_uc002wyt.3_Missense_Mutation_p.T96A|PLUNC_uc002wyu.3_Missense_Mutation_p.T96A	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	96					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31982904	31982904	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31982904C>T	uc010gek.2	-	3	447	c.323G>A	c.(322-324)GGC>GAC	p.G108D	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.G18D|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wza.2_Missense_Mutation_p.G108D|CDK5RAP1_uc010gel.2_Missense_Mutation_p.G17D|CDK5RAP1_uc010gem.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.G108D|CDK5RAP1_uc010gen.2_Missense_Mutation_p.G108D	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	108	MTTase N-terminal.|CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32258498	32258498	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32258498A>G	uc002wzn.3	-	3	361	c.255T>C	c.(253-255)CAT>CAC	p.H85H	NECAB3_uc002wzm.3_Silent_p.H85H|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.H36H|NECAB3_uc002wzq.3_Silent_p.H85H|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.H85H	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	85					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1																		---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32267551	32267551	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32267551C>T	uc002wzu.3	-							NM_005225	NP_005216			E2F transcription factor 1						apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
RALY	22913	broad.mit.edu	37	20	32660018	32660018	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32660018C>A	uc002xab.2	+	3	436	c.138C>A	c.(136-138)GGC>GGA	p.G46G	RALY_uc010zui.1_Silent_p.G46G|RALY_uc002xac.2_Silent_p.G46G|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.G46G	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	46	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
ASIP	434	broad.mit.edu	37	20	32848253	32848253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32848253C>T	uc002xah.1	+	1	83	c.73C>T	c.(73-75)CCA>TCA	p.P25S		NM_001672	NP_001663	P42127	ASIP_HUMAN	agouti signaling protein precursor	25					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)	1																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33026406	33026406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33026406C>T	uc010geu.1	+	9	964	c.772C>T	c.(772-774)CGA>TGA	p.R258*	ITCH_uc002xak.2_Nonsense_Mutation_p.R217*|ITCH_uc010zuj.1_Nonsense_Mutation_p.R107*	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	258	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33077191	33077191	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33077191G>C	uc010geu.1	+	22	2529	c.2337G>C	c.(2335-2337)GAG>GAC	p.E779D	ITCH_uc002xak.2_Missense_Mutation_p.E738D|ITCH_uc010zuj.1_Missense_Mutation_p.E628D	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	779	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
PIGU	128869	broad.mit.edu	37	20	33222471	33222471	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33222471G>T	uc002xas.2	-	6	677	c.477C>A	c.(475-477)ACC>ACA	p.T159T	PIGU_uc010zul.1_Silent_p.T159T|PIGU_uc002xat.2_Silent_p.T139T|PIGU_uc010gev.1_RNA	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	159					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0																		---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33328893	33328893	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33328893C>G	uc002xav.2	-	12	7738	c.5167G>C	c.(5167-5169)GCT>CCT	p.A1723P	NCOA6_uc002xaw.2_Missense_Mutation_p.A1723P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1723	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7																		---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33509131	33509131	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33509131A>G	uc002xbd.2	+	11	1399	c.1278_splice	c.e11-2	p.K426_splice	ACSS2_uc002xbc.2_Splice_Site_p.K331_splice|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Splice_Site_p.K439_splice|ACSS2_uc002xbe.2_Splice_Site_p.K134_splice|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147			acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33514025	33514025	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33514025T>A	uc002xbd.2	+	16	1965	c.1844T>A	c.(1843-1845)GTC>GAC	p.V615D	ACSS2_uc002xbc.2_Missense_Mutation_p.V520D|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.V628D|ACSS2_uc002xbe.2_Missense_Mutation_p.V323D|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	615				V -> F (in Ref. 3; AAH12172).	ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
GSS	2937	broad.mit.edu	37	20	33517328	33517328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33517328C>T	uc002xbg.2	-	12	1257	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	GSS_uc010zun.1_Missense_Mutation_p.A265T|GSS_uc010zuo.1_Missense_Mutation_p.A282T|GSS_uc010zup.1_Missense_Mutation_p.A324T|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.A123T	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	393					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)													---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33581008	33581008	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33581008T>C	uc002xbi.1	+	23	2505	c.2413T>C	c.(2413-2415)TAC>CAC	p.Y805H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	763	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33582006	33582006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33582006G>A	uc002xbi.1	+	25	2720	c.2628G>A	c.(2626-2628)TGG>TGA	p.W876*		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	834						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33600808	33600808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33600808T>C	uc002xbk.2	-						TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Intron|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Intron	NM_015638	NP_056453			TRPC4-associated protein isoform a						protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
EDEM2	55741	broad.mit.edu	37	20	33706412	33706412	+	Missense_Mutation	SNP	C	T	T	rs142171544		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33706412C>T	uc002xbo.2	-	10	1325	c.1225G>A	c.(1225-1227)GGA>AGA	p.G409R	EDEM2_uc010zuv.1_Missense_Mutation_p.G368R|EDEM2_uc010zus.1_Missense_Mutation_p.G188R|EDEM2_uc002xbq.2_Missense_Mutation_p.G372R|EDEM2_uc010zut.1_Missense_Mutation_p.G368R|EDEM2_uc002xbp.2_Missense_Mutation_p.G257R|EDEM2_uc002xbn.2_Missense_Mutation_p.G257R|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.G133R	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	409					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33879869	33879869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33879869T>C	uc010zux.1	-	1	357	c.239A>G	c.(238-240)TAC>TGC	p.Y80C	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	80										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
UQCC	55245	broad.mit.edu	37	20	33981905	33981905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33981905C>T	uc002xcd.2	-	2	186	c.119G>A	c.(118-120)CGC>CAC	p.R40H	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Missense_Mutation_p.R40H|UQCC_uc002xce.2_Missense_Mutation_p.R40H|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.R40H|UQCC_uc010zvb.1_Missense_Mutation_p.R40H|UQCC_uc002xcf.2_Silent_p.S20S|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_5'UTR|UQCC_uc010gfd.1_Silent_p.S20S	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	40						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34022040	34022040	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34022040T>C	uc010gfc.1	-	2	1414	c.1173A>G	c.(1171-1173)CGA>CGG	p.R391R	uc002xcj.2_Missense_Mutation_p.S151P|GDF5_uc002xck.1_Silent_p.R391R|GDF5_uc010zvc.1_Silent_p.R391R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	391					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)															---	---	---	---
ERGIC3	51614	broad.mit.edu	37	20	34143804	34143804	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34143804A>T	uc002xct.2	+	9	787	c.718A>T	c.(718-720)ATC>TTC	p.I240F	ERGIC3_uc010zvg.1_Missense_Mutation_p.I240F|ERGIC3_uc002xcs.2_Missense_Mutation_p.I245F|ERGIC3_uc002xcu.2_Missense_Mutation_p.I255F|ERGIC3_uc002xcv.2_Missense_Mutation_p.I203F	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	240	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)															---	---	---	---
CPNE1	8904	broad.mit.edu	37	20	34220721	34220721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34220721G>A	uc002xdf.2	-	4	488	c.125C>T	c.(124-126)GCT>GTT	p.A42V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.A47V|CPNE1_uc002xde.2_Missense_Mutation_p.A42V|CPNE1_uc002xdg.2_Missense_Mutation_p.A42V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A42V|CPNE1_uc002xdi.2_Missense_Mutation_p.A42V|CPNE1_uc002xdj.2_Missense_Mutation_p.A42V|CPNE1_uc002xdk.2_Missense_Mutation_p.A42V|CPNE1_uc002xdl.2_Missense_Mutation_p.A42V|CPNE1_uc002xdm.2_Missense_Mutation_p.A42V|CPNE1_uc010gfk.1_Missense_Mutation_p.A42V|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	42	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34241387	34241387	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34241387T>C	uc002xdq.2	-	3	2090	c.1858A>G	c.(1858-1860)ACC>GCC	p.T620A	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.T620A|RBM12_uc002xds.2_Missense_Mutation_p.T620A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	620						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34242789	34242789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34242789T>C	uc002xdq.2	-	3	688	c.456A>G	c.(454-456)ACA>ACG	p.T152T	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.T152T|RBM12_uc002xds.2_Silent_p.T152T	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	152						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35071143	35071143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35071143C>T	uc002xff.2	+	6	1805	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A457V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	457					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35125394	35125394	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35125394A>G	uc002xff.2	+	8	2370	c.1935A>G	c.(1933-1935)GAA>GAG	p.E645E	DLGAP4_uc010zvp.1_Silent_p.E645E|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Silent_p.E106E|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	645					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
C20orf24	55969	broad.mit.edu	37	20	35240458	35240458	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35240458T>C	uc002xfq.2	+	4					C20orf24_uc002xfo.2_3'UTR|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Silent_p.G88G|C20orf24_uc002xfs.2_3'UTR	NM_018840	NP_061328			RAB5-interacting protein isoform a								protein binding				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35293440	35293440	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35293440C>T	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
VSTM2L	128434	broad.mit.edu	37	20	36572479	36572479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36572479T>C	uc002xhk.3	+	4	693	c.439T>C	c.(439-441)TTC>CTC	p.F147L		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	147	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---
KIAA0406	9675	broad.mit.edu	37	20	36641206	36641206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36641206C>T	uc002xhl.2	-	3	1222	c.1013G>A	c.(1012-1014)GGA>GAA	p.G338E	KIAA0406_uc002xhm.2_Missense_Mutation_p.G338E	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
TGM2	7052	broad.mit.edu	37	20	36767989	36767989	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36767989A>G	uc002xhr.2	-	9	1267	c.1167T>C	c.(1165-1167)GAT>GAC	p.D389D	TGM2_uc010zvx.1_Silent_p.D308D|TGM2_uc010zvy.1_Silent_p.D329D|TGM2_uc002xhs.1_Silent_p.D365D|TGM2_uc002xht.2_Silent_p.D389D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)													---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36869061	36869061	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36869061A>T	uc002xhy.1	-	3	1744	c.1472T>A	c.(1471-1473)CTC>CAC	p.L491H	KIAA1755_uc002xhz.1_Missense_Mutation_p.L491H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	491										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356555	37356555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356555A>G	uc002xjc.2	+	2	1114	c.851A>G	c.(850-852)TAC>TGC	p.Y284C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	284	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356973	37356973	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356973C>T	uc002xjc.2	+	2	1532	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	423	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39690105	39690105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39690105C>T	uc002xjl.2	+	3	376	c.130C>T	c.(130-132)CGG>TGG	p.R44W	TOP1_uc010gge.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	44	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39744080	39744080	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39744080G>A	uc002xjl.2	+	16	1953	c.1707_splice	c.e16+1	p.N569_splice	uc002xjn.1_Intron	NM_003286	NP_003277			DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39792036	39792036	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39792036C>T	uc002xjp.1	+	9	929	c.808C>T	c.(808-810)CGC>TGC	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	270					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798806	39798806	+	Missense_Mutation	SNP	C	T	T	rs140033921		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39798806C>T	uc002xjp.1	+	24	2826	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	PLCG1_uc002xjo.1_Missense_Mutation_p.A902V|PLCG1_uc010zwe.1_Missense_Mutation_p.A528V|PLCG1_uc010ggf.2_Missense_Mutation_p.A226V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	902	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39831411	39831411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39831411T>A	uc002xjs.1	-	3	2524	c.2146A>T	c.(2146-2148)ATC>TTC	p.I716F	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.I716F|ZHX3_uc002xjt.1_Missense_Mutation_p.I716F|ZHX3_uc002xju.1_Missense_Mutation_p.I716F|ZHX3_uc002xjv.1_Missense_Mutation_p.I716F|ZHX3_uc002xjw.1_Missense_Mutation_p.I716F|ZHX3_uc010ggg.1_Missense_Mutation_p.I716F	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	716					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832356	39832356	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39832356T>C	uc002xjs.1	-	3	1579	c.1201A>G	c.(1201-1203)AAT>GAT	p.N401D	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N401D|ZHX3_uc002xjt.1_Missense_Mutation_p.N401D|ZHX3_uc002xju.1_Missense_Mutation_p.N401D|ZHX3_uc002xjv.1_Missense_Mutation_p.N401D|ZHX3_uc002xjw.1_Missense_Mutation_p.N401D|ZHX3_uc010ggg.1_Missense_Mutation_p.N401D	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	401	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39987087	39987087	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39987087T>C	uc002xjx.2	+	19	2407	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	LPIN3_uc010ggh.2_Silent_p.F773F|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	772	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049561	40049561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40049561T>C	uc002xka.1	-	31	5892	c.5714A>G	c.(5713-5715)AAC>AGC	p.N1905S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1905					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40085990	40085990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40085990G>A	uc002xka.1	-	18	2921	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	CHD6_uc002xkd.2_Missense_Mutation_p.R893C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	915	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713431	40713431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40713431A>T	uc002xkg.2	-	29	4211	c.4027T>A	c.(4027-4029)TAC>AAC	p.Y1343N	PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362N|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1343	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864873	40864873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40864873A>G	uc002xkg.2	-	15	2522	c.2338T>C	c.(2338-2340)TAC>CAC	p.Y780H	PTPRT_uc010ggj.2_Missense_Mutation_p.Y799H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	780	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
L3MBTL	26013	broad.mit.edu	37	20	42159069	42159069	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42159069A>G	uc010zwh.1	+						L3MBTL_uc002xkl.2_Intron|L3MBTL_uc002xkm.2_Intron|L3MBTL_uc010ggl.2_Intron|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293			l(3)mbt-like isoform I						chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42232531	42232531	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42232531T>C	uc002xkw.2	+	4	459	c.337_splice	c.e4+2	p.D113_splice	IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Splice_Site_p.D113_splice|IFT52_uc002xkx.2_Splice_Site|IFT52_uc010ggn.2_Splice_Site_p.D113_splice|IFT52_uc002xkz.2_Splice_Site_p.D113_splice	NM_016004	NP_057088			intraflagellar transport 52 homolog							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42265849	42265849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42265849C>T	uc002xkw.2	+	12	1198	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	IFT52_uc002xky.2_Missense_Mutation_p.T359M|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.T335M|IFT52_uc002xkz.2_Missense_Mutation_p.T359M	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42744457	42744457	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42744457C>T	uc002xli.1	-	4	2731	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	620	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
YWHAB	7529	broad.mit.edu	37	20	43530375	43530375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43530375T>C	uc002xmt.2	+	3	483	c.201T>C	c.(199-201)ATT>ATC	p.I67I	YWHAB_uc002xmu.2_Silent_p.I67I	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
TOMM34	10953	broad.mit.edu	37	20	43583713	43583713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43583713T>C	uc002xmy.2	-	3	516	c.376A>G	c.(376-378)AAC>GAC	p.N126D	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	126				N -> S (in Ref. 5; BAD96672).	protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---
WFDC5	149708	broad.mit.edu	37	20	43739138	43739138	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43739138G>A	uc002xne.1	-	3	349	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	90	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43945607	43945607	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43945607C>T	uc002xns.2	+	12					RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091			recombining binding protein L						signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SPINLW1	57119	broad.mit.edu	37	20	44166681	44166681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44166681A>G	uc010zxc.1	-	4	476	c.444T>C	c.(442-444)TGT>TGC	p.C148C	WFDC6_uc002xos.1_Silent_p.C48C	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	48	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44469372	44469372	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44469372A>C	uc002xpv.1	+	4	631	c.542A>C	c.(541-543)AAC>ACC	p.N181T	SNX21_uc002xps.1_Missense_Mutation_p.N181T|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.N171T|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	181	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44505771	44505771	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44505771T>C	uc002xqd.2	+	2	777	c.574T>C	c.(574-576)TTC>CTC	p.F192L	ZSWIM3_uc010zxg.1_Missense_Mutation_p.F186L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	192							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506225	44506225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44506225C>A	uc002xqd.2	+	2	1231	c.1028C>A	c.(1027-1029)TCT>TAT	p.S343Y	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S337Y	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	343							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44538650	44538650	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44538650T>C	uc002xqn.1	-	4	340	c.260A>G	c.(259-261)GAG>GGG	p.E87G	PLTP_uc002xql.1_5'UTR|PLTP_uc002xqm.1_Missense_Mutation_p.E107G|PLTP_uc002xqo.1_Missense_Mutation_p.E87G|PLTP_uc002xqp.1_Missense_Mutation_p.E87G|PLTP_uc002xqq.1_Missense_Mutation_p.E56G|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.E87G	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	87					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44596981	44596981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44596981C>T	uc002xqw.2	-	4	586	c.463G>A	c.(463-465)GCT>ACT	p.A155T	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.A123T|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44640886	44640886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44640886C>T	uc002xqz.2	+	7	1127	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	370	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)													---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691317	44691317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44691317C>T	uc002xrd.2	-	7	1890	c.1362G>A	c.(1360-1362)TCG>TCA	p.S454S	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.S454S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44869870	44869870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44869870G>A	uc002xrm.2	-	2	683	c.282C>T	c.(280-282)GAC>GAT	p.D94D	CDH22_uc010ghk.1_Silent_p.D94D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	94	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC35C2	51006	broad.mit.edu	37	20	44983738	44983738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44983738T>C	uc002xro.2	-	6	1092	c.551A>G	c.(550-552)CAG>CGG	p.Q184R	SLC35C2_uc002xrp.2_Missense_Mutation_p.Q163R|SLC35C2_uc002xrq.2_Missense_Mutation_p.Q184R|SLC35C2_uc002xrr.2_Missense_Mutation_p.Q184R|SLC35C2_uc010zxn.1_Missense_Mutation_p.Q49R|SLC35C2_uc010zxo.1_Missense_Mutation_p.Q70R|SLC35C2_uc010zxp.1_Missense_Mutation_p.Q213R	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	184					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44996115	44996115	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44996115G>A	uc002xrt.1	-	22	2257	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	ELMO2_uc010zxq.1_Silent_p.L415L|ELMO2_uc002xrs.1_Silent_p.L430L|ELMO2_uc002xru.1_Silent_p.L683L|ELMO2_uc010zxr.1_Silent_p.L695L|ELMO2_uc010zxs.1_Silent_p.L500L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	683					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44999996	44999996	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44999996T>A	uc002xrt.1	-	19	2006	c.1796A>T	c.(1795-1797)GAG>GTG	p.E599V	ELMO2_uc010zxq.1_Missense_Mutation_p.E331V|ELMO2_uc002xrs.1_Missense_Mutation_p.E346V|ELMO2_uc002xru.1_Missense_Mutation_p.E599V|ELMO2_uc010zxr.1_Missense_Mutation_p.E611V|ELMO2_uc010zxs.1_Missense_Mutation_p.E416V|ELMO2_uc002xrv.1_Missense_Mutation_p.E318V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	599	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45129985	45129985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45129985A>G	uc002xsc.2	-	5	2177	c.1993T>C	c.(1993-1995)TTT>CTT	p.F665L	ZNF334_uc002xsa.2_Missense_Mutation_p.F688L|ZNF334_uc002xsb.2_Missense_Mutation_p.F627L|ZNF334_uc002xsd.2_Missense_Mutation_p.F627L|ZNF334_uc010ghl.2_Missense_Mutation_p.F664L	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	665	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130828	45130828	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45130828T>C	uc002xsc.2	-	5	1334	c.1150A>G	c.(1150-1152)AAA>GAA	p.K384E	ZNF334_uc002xsa.2_Missense_Mutation_p.K407E|ZNF334_uc002xsb.2_Missense_Mutation_p.K346E|ZNF334_uc002xsd.2_Missense_Mutation_p.K346E|ZNF334_uc010ghl.2_Missense_Mutation_p.K383E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45354435	45354435	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45357988	45357988	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45357988C>A	uc002xsl.2	+							NM_030777	NP_110404			solute carrier family 2 member 10							endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46279854	46279854	+	Silent	SNP	G	A	A	rs72181894		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46279854G>A	uc002xtk.2	+	20	3985	c.3780G>A	c.(3778-3780)CAG>CAA	p.Q1260Q	NCOA3_uc010ght.1_Silent_p.Q1251Q|NCOA3_uc002xtl.2_Silent_p.Q1256Q|NCOA3_uc002xtm.2_Silent_p.Q1255Q|NCOA3_uc002xtn.2_Silent_p.Q1259Q|NCOA3_uc010zyc.1_Silent_p.Q1055Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1260	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281156	46281156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281156G>A	uc002xtk.2	+	21	4158	c.3953G>A	c.(3952-3954)GGA>GAA	p.G1318E	NCOA3_uc002xtl.2_Missense_Mutation_p.G1314E|NCOA3_uc002xtm.2_Missense_Mutation_p.G1313E|NCOA3_uc002xtn.2_Missense_Mutation_p.G1317E|NCOA3_uc010zyc.1_Missense_Mutation_p.G1113E	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1318					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47262383	47262383	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47262383A>G	uc002xtw.1	-						PREX1_uc002xtv.1_Intron	NM_020820	NP_065871			phosphatidylinositol-3,4,						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266665	47266665	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47266665T>C	uc002xtw.1	-	24	2920	c.2897A>G	c.(2896-2898)GAC>GGC	p.D966G	PREX1_uc002xtv.1_Missense_Mutation_p.D263G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	966					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47585715	47585715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47585715C>T	uc002xtx.3	+	9	1243	c.1091C>T	c.(1090-1092)GCC>GTC	p.A364V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	364					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47601974	47601974	+	Silent	SNP	C	T	T	rs145085689		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47601974C>T	uc002xtx.3	+	16	2252	c.2100C>T	c.(2098-2100)AGC>AGT	p.S700S	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	700	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47621755	47621755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47621755A>G	uc002xtx.3	+	26	3733	c.3581A>G	c.(3580-3582)AAC>AGC	p.N1194S	ARFGEF2_uc010zyf.1_Missense_Mutation_p.N487S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1194					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47630429	47630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47630429T>C	uc002xtx.3	+	30	4263	c.4111T>C	c.(4111-4113)TGG>CGG	p.W1371R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.W664R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1371					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47852753	47852753	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47852753T>C	uc002xuh.2	+	13	1648	c.1587T>C	c.(1585-1587)ATT>ATC	p.I529I		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47863988	47863988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47863988C>T	uc002xui.2	-	14	5820	c.5573G>A	c.(5572-5574)GGC>GAC	p.G1858D		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1858							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47874037	47874037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47874037C>T	uc002xui.2	-	8	2828	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	861							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47990019	47990019	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47990019T>A	uc002xur.1	-	2	2242	c.2078A>T	c.(2077-2079)GAC>GTC	p.D693V	KCNB1_uc002xus.1_Missense_Mutation_p.D693V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	693	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48431651	48431651	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48431651G>A	uc002xuv.1	+	2	343	c.133G>A	c.(133-135)GTG>ATG	p.V45M	SLC9A8_uc010zym.1_Translation_Start_Site|SLC9A8_uc010zyj.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyk.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyl.1_Missense_Mutation_p.V45M|SLC9A8_uc010gib.1_Missense_Mutation_p.V45M	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	45						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)															---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49211903	49211903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49211903T>C	uc002xvm.2	-						FAM65C_uc010zyt.1_Intron|FAM65C_uc010zyu.1_Intron	NM_080829	NP_543019			hypothetical protein LOC140876											ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49218812	49218812	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49218812C>A	uc002xvm.2	-	13	1762	c.1444G>T	c.(1444-1446)GGC>TGC	p.G482C	FAM65C_uc010zyt.1_Missense_Mutation_p.G486C|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G482C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	482										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49224977	49224977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49224977A>G	uc002xvm.2	-	11	1211	c.893T>C	c.(892-894)GTG>GCG	p.V298A	FAM65C_uc010zyt.1_Missense_Mutation_p.V302A|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V298A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	298										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49225053	49225053	+	Missense_Mutation	SNP	G	T	T	rs139011816		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49225053G>T	uc002xvm.2	-	11	1135	c.817C>A	c.(817-819)CTG>ATG	p.L273M	FAM65C_uc010zyt.1_Missense_Mutation_p.L277M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.L273M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	273										ovary(2)	2																		---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49575045	49575045	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49575045C>G	uc002xvw.1	-	1	16	c.16G>C	c.(16-18)GTC>CTC	p.V6L	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	6					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50139780	50139780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50139780C>T	uc002xwd.2	-	2	1220	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	NFATC2_uc002xwc.2_Missense_Mutation_p.A334T|NFATC2_uc010zyv.1_Missense_Mutation_p.A115T|NFATC2_uc010zyw.1_Missense_Mutation_p.A115T|NFATC2_uc010zyx.1_Missense_Mutation_p.A314T|NFATC2_uc010zyy.1_Missense_Mutation_p.A115T|NFATC2_uc010zyz.1_Missense_Mutation_p.A115T|NFATC2_uc002xwe.2_Missense_Mutation_p.A314T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	334					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)																	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50235532	50235532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50235532C>T	uc002xwg.1	-	20	2166	c.2166G>A	c.(2164-2166)AAG>AAA	p.K722K	ATP9A_uc010gih.1_Silent_p.K586K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	722	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406794	50406794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50406794A>G	uc002xwh.3	-	2	2329	c.2228T>C	c.(2227-2229)CTG>CCG	p.L743P	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	743					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50715059	50715059	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50715059C>A	uc002xwk.2	-	6	1180	c.831G>T	c.(829-831)AAG>AAT	p.K277N	ZFP64_uc002xwj.2_Missense_Mutation_p.K58N	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198090	52198090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198090C>T	uc002xwq.3	-	1	1547	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52573988	52573988	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52573988T>C	uc002xws.2	-	10	1737	c.1399A>G	c.(1399-1401)AAA>GAA	p.K467E	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.K453E|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	467						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779357	52779357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52779357G>A	uc002xwv.2	-	7	1287	c.889C>T	c.(889-891)CCT>TCT	p.P297S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P155S|CYP24A1_uc002xww.2_Missense_Mutation_p.P297S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	297					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)													---	---	---	---
AURKA	6790	broad.mit.edu	37	20	54956577	54956577	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54956577A>G	uc002xxd.1	-	8	1183	c.617T>C	c.(616-618)GTC>GCC	p.V206A	AURKA_uc002xxe.1_Missense_Mutation_p.V206A|AURKA_uc002xxf.1_Missense_Mutation_p.V206A|AURKA_uc002xxg.1_Missense_Mutation_p.V206A|AURKA_uc002xxh.1_Missense_Mutation_p.V206A|AURKA_uc002xxi.1_Missense_Mutation_p.V206A|AURKA_uc002xxj.1_Missense_Mutation_p.V206A|AURKA_uc002xxk.1_Missense_Mutation_p.V206A|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	206	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)															---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735739	56735739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56735739C>T	uc002xyv.2	+	4	313	c.275C>T	c.(274-276)CCA>CTA	p.P92L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	92										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)															---	---	---	---
STX16	8675	broad.mit.edu	37	20	57244488	57244488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57244488G>A	uc002xzi.2	+	5	1270	c.535G>A	c.(535-537)GCA>ACA	p.A179T	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.A162T|STX16_uc002xzm.2_Missense_Mutation_p.A175T|STX16_uc002xzj.2_Missense_Mutation_p.A158T|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	179	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)															---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57429108	57429108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57429108C>T	uc002xzw.2	+	1	1073	c.788C>T	c.(787-789)GCG>GTG	p.A263V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)					Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57566480	57566480	+	Silent	SNP	C	T	T	rs143108259	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57566480C>T	uc002yag.2	+	9	1122	c.1095C>T	c.(1093-1095)AGC>AGT	p.S365S	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	365					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57568788	57568788	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57568788A>G	uc002yag.2	+	13	1604	c.1577A>G	c.(1576-1578)GAC>GGC	p.D526G	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	526					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57599377	57599377	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57599377A>G	uc002yak.2	+	4	1164	c.895A>G	c.(895-897)ACC>GCC	p.T299A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	299					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)													---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766438	57766438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766438C>T	uc002yan.2	+	1	364	c.364C>T	c.(364-366)CCT>TCT	p.P122S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	122						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766652C>T	uc002yan.2	+	1	578	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766659	57766659	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58470489	58470489	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58470489T>A	uc002yaz.2	-							NM_014258	NP_055073			synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)															---	---	---	---
C20orf177	63939	broad.mit.edu	37	20	58519370	58519370	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58519370A>G	uc002yba.2	+	5	787	c.372A>G	c.(370-372)CCA>CCG	p.P124P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P124P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	124										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)															---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58533771	58533771	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58533771G>A	uc002ybe.2	+	1					CDH26_uc010zzy.1_RNA	NM_177980	NP_817089			cadherin-like 26 isoform a						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---
MIR646	693231	broad.mit.edu	37	20	58883599	58883599	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58883599T>C	hsa-mir-646|MI0003661	+			c.68T>C			uc002ybl.2_Intron|uc010gjw.1_Intron																	0																		---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60898735	60898735	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60898735A>G	uc002ycq.2	-							NM_005560	NP_005551			laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
C20orf200	253868	broad.mit.edu	37	20	61143670	61143670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61143670G>A	uc002ycz.1	-	3	669	c.178C>T	c.(178-180)CGG>TGG	p.R60W	C20orf200_uc002ycy.2_RNA	NM_152757	NP_689970			hypothetical protein LOC253868												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)															---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61391524	61391524	+	Missense_Mutation	SNP	C	T	T	rs73918681	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61391524C>T	uc002ydf.2	+	4	1533	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	388	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)															---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61941211	61941211	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61941211C>T	uc011aau.1	+	10	1307	c.1207C>T	c.(1207-1209)CAC>TAC	p.H403Y	COL20A1_uc011aav.1_Missense_Mutation_p.H224Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	403	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)															OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981776	61981776	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61981776G>A	uc002yes.2	-	5	1165	c.987C>T	c.(985-987)AAC>AAT	p.N329N	CHRNA4_uc002yet.1_Silent_p.N153N|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.N258N|CHRNA4_uc002yev.1_Silent_p.N153N|CHRNA4_uc010gkf.1_Silent_p.N153N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	329	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)													---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038197	62038197	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62038197T>C	uc002yey.1	-	17	2596	c.2419A>G	c.(2419-2421)ATC>GTC	p.I807V	KCNQ2_uc002yez.1_Missense_Mutation_p.I776V|KCNQ2_uc002yfa.1_Missense_Mutation_p.I789V|KCNQ2_uc002yfb.1_Missense_Mutation_p.I779V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	807	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62121899	62121899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62121899C>T	uc002yfd.1	-	5	1063	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.R321Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.R321Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62192702	62192702	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62192702C>T	uc002yfm.2	-	14	7845	c.6953_splice	c.e14+1	p.W2318_splice	PRIC285_uc002yfl.1_Splice_Site_p.W1749_splice	NM_001037335	NP_001032412			PPAR-alpha interacting complex protein 285						cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62196064	62196064	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62196064G>A	uc002yfm.2	-	9	5003	c.4111C>T	c.(4111-4113)CAC>TAC	p.H1371Y	PRIC285_uc002yfl.1_Missense_Mutation_p.H802Y	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1371					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62319644	62319644	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62319644G>A	uc002yfu.1	+						RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518			regulator of telomere elongation helicase 1						DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62324280	62324280	+	Silent	SNP	C	A	A	rs12480346	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62324280C>A	uc002yfu.1	+	29	3118	c.2775C>A	c.(2773-2775)TCC>TCA	p.S925S	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.S925S|RTEL1_uc011abd.1_Silent_p.S949S|RTEL1_uc011abe.1_Silent_p.S702S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.S170S|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	925					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62378537	62378537	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62378537C>T	uc002ygv.1	-	5	1717	c.1516G>A	c.(1516-1518)GGC>AGC	p.G506S	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)																	---	---	---	---
UCKL1	54963	broad.mit.edu	37	20	62577085	62577085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62577085A>G	uc010gkn.2	-						UCKL1_uc011abm.1_Intron|UCKL1_uc011abn.1_Intron|UCKL1_uc011abo.1_Intron	NM_017859	NP_060329			uridine-cytidine kinase 1-like 1						interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62597536	62597536	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62597536T>A	uc002yhl.1	-	5	1046	c.992A>T	c.(991-993)AAC>ATC	p.N331I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
PRPF6	24148	broad.mit.edu	37	20	62626810	62626810	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62626810C>A	uc002yho.2	+	6	914	c.746C>A	c.(745-747)ACT>AAT	p.T249N	PRPF6_uc002yhp.2_Missense_Mutation_p.T249N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	249					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---
RGS19	10287	broad.mit.edu	37	20	62705223	62705223	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62705223A>T	uc002yhy.2	-	6	904	c.637T>A	c.(637-639)TCC>ACC	p.S213T	RGS19_uc002yhz.2_Missense_Mutation_p.S191T|RGS19_uc002yia.2_Missense_Mutation_p.S213T|RGS19_uc002yib.2_Missense_Mutation_p.S213T	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	213	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)																	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737989	62737989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62737989C>T	uc011abt.1	-	1	196	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	66	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)																	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62896678	62896678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62896678T>C	uc002yil.3	+	4	678	c.478T>C	c.(478-480)TAT>CAT	p.Y160H	PCMTD2_uc002yim.3_Missense_Mutation_p.Y160H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	160						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)																	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599525	15599525	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15599525A>G	uc002yjo.3	+	5	799	c.757A>G	c.(757-759)ACA>GCA	p.T253A	RBM11_uc002yjn.3_Missense_Mutation_p.T139A|RBM11_uc002yjp.3_Missense_Mutation_p.T139A	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	253							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17172081	17172081	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17172081A>T	uc002yjy.1	+	6	778	c.561A>T	c.(559-561)TTA>TTT	p.L187F	USP25_uc011aby.1_Missense_Mutation_p.L187F|USP25_uc002yjz.1_Missense_Mutation_p.L187F|USP25_uc010gla.1_Missense_Mutation_p.L187F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	187					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17203831	17203831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17203831A>T	uc002yjy.1	+	16	2093	c.1876A>T	c.(1876-1878)ATT>TTT	p.I626F	USP25_uc011aby.1_Missense_Mutation_p.I626F|USP25_uc002yjz.1_Missense_Mutation_p.I626F|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	626					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17246734	17246734	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17246734C>A	uc002yjy.1	+	22	2905	c.2688C>A	c.(2686-2688)TCC>TCA	p.S896S	USP25_uc011aby.1_Silent_p.S966S|USP25_uc002yjz.1_Silent_p.S928S|USP25_uc010gla.1_Silent_p.S291S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	896					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19642347C>T	uc002ykw.2	-	25	3030	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1000	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8																		---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746311	22746311	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22746311G>A	uc002yld.1	+	9	1422	c.1173G>A	c.(1171-1173)AAG>AAA	p.K391K	NCAM2_uc011acb.1_Silent_p.K249K|NCAM2_uc011acc.1_Silent_p.K416K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	391	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---
ATP5J	522	broad.mit.edu	37	21	27102015	27102015	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27102015C>T	uc002yls.2	-	2	764	c.91G>A	c.(91-93)GCA>ACA	p.A31T	ATP5J_uc002ylt.2_Missense_Mutation_p.A31T|ATP5J_uc002ylu.2_Missense_Mutation_p.A31T|ATP5J_uc002ylv.2_Missense_Mutation_p.A39T|ATP5J_uc002ylw.2_Missense_Mutation_p.A31T	NM_001685	NP_001676	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	31					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0																		---	---	---	---
APP	351	broad.mit.edu	37	21	27372463	27372463	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27372463G>A	uc002ylz.2	-	7	1100	c.900C>T	c.(898-900)TGC>TGT	p.C300C	APP_uc010glk.2_Silent_p.C295C|APP_uc002yma.2_Silent_p.C300C|APP_uc011ach.1_Silent_p.C244C|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	300	Extracellular (Potential).|BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
CYYR1	116159	broad.mit.edu	37	21	27852713	27852713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27852713A>C	uc002ymd.2	-	3	534	c.212T>G	c.(211-213)GTA>GGA	p.V71G	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.V71G	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	71	Helical; (Potential).					integral to membrane					0																		---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28212379	28212379	+	Missense_Mutation	SNP	G	A	A	rs142639689	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28212379G>A	uc002ymf.2	-	6	2122	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	556	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)														---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28302342	28302342	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28302342G>A	uc002ymg.2	-	7	2817	c.2088C>T	c.(2086-2088)TCC>TCT	p.S696S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30302844	30302844	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30302844A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30318468	30318468	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30318468A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30380219A>T	uc002yms.2	-	4	675	c.588T>A	c.(586-588)CAT>CAA	p.H196Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	196											0																		---	---	---	---
USP16	10600	broad.mit.edu	37	21	30409640	30409640	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30409640A>G	uc002ymy.2	+	6	694	c.492A>G	c.(490-492)TTA>TTG	p.L164L	USP16_uc002ymx.2_Silent_p.L163L|USP16_uc002ymw.2_Silent_p.L164L|USP16_uc011acm.1_Silent_p.L149L|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	164					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	30910122	30910122	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30910122C>T	uc011acs.1	-						GRIK1_uc002ynn.2_Intron|GRIK1_uc011act.1_Intron	NM_000830	NP_000821			glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)													---	---	---	---
KRTAP23-1	337963	broad.mit.edu	37	21	31720870	31720870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31720870G>T	uc002yny.1	-	1	55	c.55C>A	c.(55-57)CTG>ATG	p.L19M		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	19						intermediate filament					0																		---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802878	31802878	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31802878G>T	uc011acw.1	+	1	285	c.285G>T	c.(283-285)CAG>CAT	p.Q95H		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	95						intermediate filament					0																		---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647200	33647200	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647200G>T	uc002ypi.2	-	2	393	c.342C>A	c.(340-342)TCC>TCA	p.S114S	C21orf45_uc011adn.1_Silent_p.S114S	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	114					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34117160	34117160	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34117160T>C	uc002yqn.2	-	13	2323	c.2133A>G	c.(2131-2133)ACA>ACG	p.T711T	GCFC1_uc002yql.2_Silent_p.T220T|GCFC1_uc002yqm.2_Silent_p.T205T|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.T711T	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	711				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34136657	34136657	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34136657A>G	uc002yqn.2	-	3	839	c.649_splice	c.e3+1	p.G217_splice	GCFC1_uc002yqo.2_Splice_Site|GCFC1_uc002yqp.2_Splice_Site_p.G217_splice|GCFC1_uc002yqr.2_Splice_Site_p.G217_splice	NM_016631	NP_057715			GC-rich sequence DNA-binding factor candidate							cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34617301	34617301	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34617301T>A	uc002yrd.2	+	4	471	c.143T>A	c.(142-144)TTC>TAC	p.F48Y	IFNAR2_uc002yrb.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrc.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yre.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrf.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrg.2_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	48	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619086	34619086	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619086C>T	uc002yrd.2	+	5	613	c.285C>T	c.(283-285)CTC>CTT	p.L95L	IFNAR2_uc002yrb.2_Silent_p.L95L|IFNAR2_uc002yrc.2_Silent_p.L95L|IFNAR2_uc002yre.2_Silent_p.L95L|IFNAR2_uc002yrf.2_Silent_p.L95L|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	95	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619165	34619165	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619165T>C	uc002yrd.2	+	5	692	c.364T>C	c.(364-366)TGC>CGC	p.C122R	IFNAR2_uc002yrb.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrc.2_Missense_Mutation_p.C122R|IFNAR2_uc002yre.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrf.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	122	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IL10RB	3588	broad.mit.edu	37	21	34660535	34660535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34660535C>T	uc002yrk.1	+	6	872	c.773C>T	c.(772-774)CCT>CTT	p.P258L	IL10RB_uc002yrl.1_Missense_Mutation_p.P260L	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	258	Cytoplasmic (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0																		---	---	---	---
TMEM50B	757	broad.mit.edu	37	21	34837700	34837700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34837700T>C	uc002yrt.1	-	4	407	c.229A>G	c.(229-231)AAT>GAT	p.N77D	TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	77						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
GART	2618	broad.mit.edu	37	21	34897169	34897169	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34897169T>G	uc002yrx.2	-	11	1340	c.1205A>C	c.(1204-1206)GAA>GCA	p.E402A	GART_uc002yrz.2_Missense_Mutation_p.E402A|GART_uc010gmd.2_Missense_Mutation_p.E64A|GART_uc002yry.2_Missense_Mutation_p.E402A|GART_uc002ysa.2_Missense_Mutation_p.E402A	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	402					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
SON	6651	broad.mit.edu	37	21	34923142	34923142	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34923142G>A	uc002yse.1	+	3	1654	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	SON_uc002ysb.1_Silent_p.G535G|SON_uc002ysc.2_Silent_p.G535G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	535					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35247781	35247781	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35247781C>A	uc002yta.1	+	34	4565	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1428M|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4																		---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468693	35468693	+	Missense_Mutation	SNP	G	A	A	rs143365196		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35468693G>A	uc002yto.2	+	2	1708	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	399	Cytoplasmic (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2																		---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36081070	36081070	+	Silent	SNP	G	A	A	rs149133306	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36081070G>A	uc010gmt.1	+	5	1737	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	CLIC6_uc002yuf.1_Silent_p.A561A	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	579	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36206799	36206799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36206799A>G	uc002yuh.2	-	4	2210	c.632T>C	c.(631-633)GTC>GCC	p.V211A	RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.V238A|RUNX1_uc010gmv.2_Missense_Mutation_p.V238A|RUNX1_uc002yuj.3_Missense_Mutation_p.V106A|RUNX1_uc002yuk.3_Missense_Mutation_p.V238A|RUNX1_uc002yul.1_Missense_Mutation_p.V3A|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.V238A|RUNX1_uc002yuo.1_Missense_Mutation_p.V211A	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	211	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---
MIR802	768219	broad.mit.edu	37	21	37093039	37093039	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37093039A>T	hsa-mir-802|MI0003906	+			c.27A>T			RUNX1_uc002yut.1_Intron																	0																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408405	37408405	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408405T>C	uc002yuw.1	-	10					SETD4_uc002yux.1_3'UTR|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_3'UTR	NM_017438	NP_059134			SET domain containing 4 isoform a											large_intestine(1)|ovary(1)	2																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408417	37408417	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408417A>G	uc002yuw.1	-	10	2694	c.1321T>C	c.(1321-1323)TGA>CGA	p.*441R	SETD4_uc002yux.1_Nonstop_Mutation_p.*417R|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Nonstop_Mutation_p.*441R	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	441										large_intestine(1)|ovary(1)	2																		---	---	---	---
CBR3	874	broad.mit.edu	37	21	37507593	37507593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37507593C>T	uc002yve.2	+	1	331	c.103C>T	c.(103-105)CTC>TTC	p.L35F	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	35						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0																		---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37717320	37717320	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37717320T>C	uc002yvi.2	+	8	1072	c.996T>C	c.(994-996)TGT>TGC	p.C332C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	332					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2																		---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37781130	37781130	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37781130T>C	uc002yvj.2	+	9	965	c.827_splice	c.e9+2	p.R276_splice		NM_005441	NP_005432			chromatin assembly factor 1 subunit B						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2																		---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309119	38309119	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38309119G>A	uc010gnb.2	-	4	1827	c.626C>T	c.(625-627)CCG>CTG	p.P209L	HLCS_uc002yvs.2_Missense_Mutation_p.P209L|HLCS_uc010gnc.1_Missense_Mutation_p.P356L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	209					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)													---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38460521	38460521	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38460521T>C	uc002yvz.2	+	4	318	c.213T>C	c.(211-213)TGT>TGC	p.C71C	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.C71C|TTC3_uc002ywb.2_Silent_p.C71C|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.C71C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	71					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38538826	38538826	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38538826A>G	uc002yvz.2	+	33	4415	c.4310A>G	c.(4309-4311)CAC>CGC	p.H1437R	TTC3_uc011aee.1_Missense_Mutation_p.H1127R|TTC3_uc002ywa.2_Missense_Mutation_p.H1437R|TTC3_uc002ywb.2_Missense_Mutation_p.H1437R|TTC3_uc010gnf.2_Missense_Mutation_p.H1202R|TTC3_uc002ywc.2_Missense_Mutation_p.H1127R|TTC3_uc002ywd.1_Missense_Mutation_p.H501R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1437					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38570308	38570308	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38570308A>T	uc002yvz.2	+	44	5937	c.5832A>T	c.(5830-5832)GAA>GAT	p.E1944D	TTC3_uc002ywa.2_Missense_Mutation_p.E1944D|TTC3_uc002ywb.2_Missense_Mutation_p.E1944D|TTC3_uc010gnf.2_Missense_Mutation_p.E1709D|TTC3_uc002ywc.2_Missense_Mutation_p.E1634D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1944					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
DSCR9	257203	broad.mit.edu	37	21	38593691	38593691	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38593691G>A	uc010gnk.2	+	1		c.803G>A								Homo sapiens mRNA, complete cds.												0																		---	---	---	---
DSCR4	10281	broad.mit.edu	37	21	39427037	39427037	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39427037A>C	uc002ywp.2	-	3	374	c.269T>G	c.(268-270)ATT>AGT	p.I90S		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	90										ovary(1)	1																		---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671242	39671242	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39671242C>T	uc002ywv.2	+	4	361	c.59C>T	c.(58-60)GCT>GTT	p.A20V	KCNJ15_uc002yww.2_Missense_Mutation_p.A20V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A20V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	20	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	40250774	40250774	+	IGR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40250774C>A								ETS2 (53898 upstream) : PSMG1 (296616 downstream)																																			---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40642230	40642230	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40642230T>A	uc002yxk.1	-	14	1513	c.1374A>T	c.(1372-1374)GGA>GGT	p.G458G	BRWD1_uc002yxl.2_Silent_p.G458G|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Silent_p.G178G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	458	WD 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40670420	40670420	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40670420C>G	uc002yxk.1	-	5	426	c.287G>C	c.(286-288)AGT>ACT	p.S96T	BRWD1_uc002yxl.2_Missense_Mutation_p.S96T|BRWD1_uc002yxm.2_Missense_Mutation_p.S96T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41137591	41137591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41137591T>C	uc002yyo.2	+	3	333	c.230T>C	c.(229-231)GTG>GCG	p.V77A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	77	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41452117	41452117	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41452117C>T	uc002yyq.1	-	25	4834	c.4382G>A	c.(4381-4383)CGC>CAC	p.R1461H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1461	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41648131	41648131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41648131G>A	uc002yyq.1	-	11	2701	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	750	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
MX2	4600	broad.mit.edu	37	21	42780168	42780168	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42780168C>T	uc002yzf.1	+	14					MX2_uc002yzg.1_3'UTR|MX2_uc010gop.1_3'UTR	NM_002463	NP_002454			myxovirus resistance protein 2						response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)																---	---	---	---
MX1	4599	broad.mit.edu	37	21	42804080	42804080	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42804080T>C	uc002yzh.2	+	7	1030	c.83T>C	c.(82-84)GTG>GCG	p.V28A	MX1_uc002yzi.2_Missense_Mutation_p.V28A|MX1_uc010goq.2_Missense_Mutation_p.V28A	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	28					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)																---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43412166	43412166	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43412166C>T	uc002zab.3	-	3	2253	c.2039G>A	c.(2038-2040)CGC>CAC	p.R680H	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.R680H|ZNF295_uc002zaa.3_Missense_Mutation_p.R680H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	680	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43413493	43413493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43413493T>C	uc002zab.3	-	3	926	c.712A>G	c.(712-714)AAT>GAT	p.N238D	ZNF295_uc002yzz.3_Missense_Mutation_p.N238D|ZNF295_uc002yzy.3_Missense_Mutation_p.N238D|ZNF295_uc002zaa.3_Missense_Mutation_p.N238D|ZNF295_uc010gov.1_Missense_Mutation_p.N238D|ZNF295_uc002zac.2_Missense_Mutation_p.N238D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	238					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43496156	43496156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43496156G>A	uc002zaf.1	+	2	119	c.119G>A	c.(118-120)CGT>CAT	p.R40H	UMODL1_uc002zad.1_Translation_Start_Site|UMODL1_uc002zae.1_Translation_Start_Site|UMODL1_uc002zag.1_Missense_Mutation_p.R40H|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	40	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43704740	43704740	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43704740A>G	uc002zaq.2	+	7	911	c.805A>G	c.(805-807)ATC>GTC	p.I269V	ABCG1_uc002zan.2_Missense_Mutation_p.I271V|ABCG1_uc002zam.2_Missense_Mutation_p.I247V|ABCG1_uc002zao.2_Missense_Mutation_p.I266V|ABCG1_uc002zap.2_Missense_Mutation_p.I269V|ABCG1_uc002zar.2_Missense_Mutation_p.I280V|ABCG1_uc011aev.1_Missense_Mutation_p.I280V|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	269	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43979141	43979141	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43979141C>A	uc002zbi.2	+	12	1335	c.923C>A	c.(922-924)CCC>CAC	p.P308H	SLC37A1_uc002zbj.2_Missense_Mutation_p.P308H	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	308	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44117604	44117604	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44117604A>C	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44270183	44270183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44270183C>T	uc002zci.2	-	11	1288	c.1215G>A	c.(1213-1215)CCG>CCA	p.P405P	WDR4_uc002zck.1_Silent_p.P405P|WDR4_uc002zcl.1_Silent_p.P259P|WDR4_uc010gpg.1_Silent_p.P404P|WDR4_uc011aew.1_Silent_p.P259P|WDR4_uc010gph.1_Silent_p.P259P	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	405					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44273682	44273682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44273682C>T	uc002zci.2	-	9	1045	c.972G>A	c.(970-972)TGG>TGA	p.W324*	WDR4_uc002zck.1_Nonsense_Mutation_p.W324*|WDR4_uc002zcl.1_Nonsense_Mutation_p.W178*|WDR4_uc010gpg.1_Nonsense_Mutation_p.W323*|WDR4_uc011aew.1_Nonsense_Mutation_p.W178*|WDR4_uc010gph.1_Nonsense_Mutation_p.W178*	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	324	WD 4.				tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
CBS	875	broad.mit.edu	37	21	44482463	44482463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44482463T>C	uc002zcu.2	-	11	1242	c.997A>G	c.(997-999)ACC>GCC	p.T333A	CBS_uc002zcs.1_Missense_Mutation_p.T228A|CBS_uc002zct.2_Missense_Mutation_p.T333A|CBS_uc002zcw.3_Missense_Mutation_p.T333A|CBS_uc002zcv.2_Missense_Mutation_p.T333A|CBS_uc002zcx.2_5'Flank	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	333					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)													---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44515553	44515553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44515553C>T	uc002zda.1	-	5	427	c.343G>A	c.(343-345)GTC>ATC	p.V115I	U2AF1_uc002zcy.1_Missense_Mutation_p.V42I|U2AF1_uc002zcz.1_Missense_Mutation_p.V42I|U2AF1_uc002zdb.1_Missense_Mutation_p.V115I|U2AF1_uc010gpi.1_Missense_Mutation_p.V115I	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	115	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45502855	45502855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45502855G>A	uc002zea.2	+	14	2079	c.1910G>A	c.(1909-1911)AGC>AAC	p.S637N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S348N|TRAPPC10_uc011afa.1_Missense_Mutation_p.S56N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	637					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
DNMT3L	29947	broad.mit.edu	37	21	45668961	45668961	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45668961C>T	uc002zeg.1	-	11	1427	c.943G>A	c.(943-945)GGA>AGA	p.G315R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G315R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	315					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)														---	---	---	---
C21orf29	54084	broad.mit.edu	37	21	45941774	45941774	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45941774A>T	uc002zfe.1	-	9	1624	c.1558T>A	c.(1558-1560)TCC>ACC	p.S520T	C21orf29_uc010gpv.1_Missense_Mutation_p.S452T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	520	EAR 5.				cell adhesion	extracellular region	structural molecule activity				0																		---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959687	45959687	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45959687T>G	uc002zfh.1	-	1	392	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	116	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1																		---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276138	46276138	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46276138C>T	uc002zgb.1	-	4	629	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	PTTG1IP_uc011afj.1_RNA|PTTG1IP_uc011afk.1_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	pituitary tumor-transforming gene 1	140	Potential.|Cytoplasmic (Potential).				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)	1				Colorectal(79;0.0659)														---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46698095	46698095	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46698095A>G	uc002zhc.2	-						POFUT2_uc002zha.2_5'Flank|POFUT2_uc002zhb.2_Intron|POFUT2_uc002zhd.2_Intron	NM_133635	NP_598368			protein O-fucosyltransferase 2 isoform C						fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46888239	46888239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46888239G>A	uc011afs.1	+	2	1456	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	COL18A1_uc002zhg.2_Missense_Mutation_p.V64I|COL18A1_uc002zhi.2_Missense_Mutation_p.V244I	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	479	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925753	46925753	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46925753T>G	uc011afs.1	+	37	4346	c.4325T>G	c.(4324-4326)GTG>GGG	p.V1442G	COL18A1_uc002zhg.2_Missense_Mutation_p.V1027G|COL18A1_uc002zhi.2_Missense_Mutation_p.V1207G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.V8G|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1445	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360012	47360012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360012G>A	uc002zhq.1	+	13	1103	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	PCBP3_uc002zhp.1_Silent_p.Q306Q|PCBP3_uc002zhs.1_Silent_p.Q300Q|PCBP3_uc002zhr.1_Silent_p.Q325Q|PCBP3_uc002zht.1_Silent_p.Q316Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	326	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360061	47360061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360061A>G	uc002zhq.1	+	13	1152	c.1027A>G	c.(1027-1029)ATC>GTC	p.I343V	PCBP3_uc002zhp.1_Missense_Mutation_p.I323V|PCBP3_uc002zhs.1_Missense_Mutation_p.I317V|PCBP3_uc002zhr.1_Missense_Mutation_p.I342V|PCBP3_uc002zht.1_Missense_Mutation_p.I333V	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	343	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47402687	47402687	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47402687A>G	uc002zhu.1	+							NM_001848	NP_001839			collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423316	47423316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423316T>C	uc002zhu.1	+	35	2578	c.2476T>C	c.(2476-2478)TCC>CCC	p.S826P	COL6A1_uc010gqd.1_Missense_Mutation_p.S157P|COL6A1_uc002zhv.1_Missense_Mutation_p.S157P|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	826	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423435	47423435	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423435G>A	uc002zhu.1	+	35	2697	c.2595G>A	c.(2593-2595)ACG>ACA	p.T865T	COL6A1_uc010gqd.1_Silent_p.T196T|COL6A1_uc002zhv.1_Silent_p.T196T|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	865	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47545929	47545929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47545929C>T	uc002zia.1	+	26	2282	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C	COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	734	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
LSS	4047	broad.mit.edu	37	21	47611134	47611134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47611134C>T	uc002zij.2	-	22	2162	c.2083G>A	c.(2083-2085)GTC>ATC	p.V695I	LSS_uc011afv.1_Missense_Mutation_p.V684I|LSS_uc002zil.2_Missense_Mutation_p.V695I|LSS_uc002zik.2_Missense_Mutation_p.V615I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	695					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47625811	47625811	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47625811C>T	uc002zij.2	-	17	1688	c.1609G>A	c.(1609-1611)GTG>ATG	p.V537M	LSS_uc011afv.1_Missense_Mutation_p.V526M|LSS_uc002zil.2_Missense_Mutation_p.V537M|LSS_uc002zik.2_Missense_Mutation_p.V457M	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	537					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47975893	47975893	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47975893A>G	uc002zjo.2	+	29	3572	c.3389_splice	c.e29-2	p.D1130_splice	DIP2A_uc011afy.1_Splice_Site_p.D1066_splice|DIP2A_uc011afz.1_Splice_Site_p.D1126_splice|DIP2A_uc002zjr.2_Splice_Site_p.D97_splice	NM_015151	NP_055966			disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---
PRMT2	3275	broad.mit.edu	37	21	48064237	48064237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:48064237A>G	uc002zjx.2	+	5	478	c.164A>G	c.(163-165)GAA>GGA	p.E55G	PRMT2_uc002zjw.2_Missense_Mutation_p.E55G|PRMT2_uc002zjy.2_Missense_Mutation_p.E55G|PRMT2_uc010gqm.2_Missense_Mutation_p.E55G|PRMT2_uc011aga.1_Missense_Mutation_p.E55G|PRMT2_uc011agb.1_Missense_Mutation_p.E55G|PRMT2_uc011agc.1_Missense_Mutation_p.E55G|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	55	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)														---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17449187	17449187	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17449187C>T	uc002zlw.2	-	5	1131	c.1023_splice	c.e5+1	p.L341_splice	GAB4_uc010gqs.1_Splice_Site	NM_001037814	NP_001032903			GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)																---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17581299	17581299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17581299A>G	uc002zly.2	+	5	611	c.478A>G	c.(478-480)ACC>GCC	p.T160A	IL17RA_uc010gqt.2_Missense_Mutation_p.T160A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	160	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17589268	17589268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17589268G>A	uc002zly.2	+	13	1292	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	IL17RA_uc010gqt.2_Missense_Mutation_p.D335N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	387	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17621952	17621952	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17621952G>A	uc002zmf.2	-	6	771	c.743C>T	c.(742-744)CCC>CTC	p.P248L	CECR5_uc002zmd.2_Missense_Mutation_p.P59L|CECR5_uc002zme.2_Missense_Mutation_p.P40L|CECR5_uc002zmg.2_Missense_Mutation_p.P111L|CECR5_uc002zmh.2_Missense_Mutation_p.P218L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	248							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)																---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18171803	18171803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18171803C>T	uc002zmw.2	+	4	499	c.281C>T	c.(280-282)GCC>GTC	p.A94V	BCL2L13_uc002zmu.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmv.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Missense_Mutation_p.A94V|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	94					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18209815	18209815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18209815G>A	uc002zmw.2	+	7	1191	c.973G>A	c.(973-975)GCT>ACT	p.A325T	BCL2L13_uc002zmx.2_Missense_Mutation_p.A163T|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.A163T|BCL2L13_uc011agk.1_Missense_Mutation_p.A201T|BCL2L13_uc010gqz.2_Missense_Mutation_p.A45T|BCL2L13_uc002zmz.2_Missense_Mutation_p.A163T|BCL2L13_uc002zna.2_Missense_Mutation_p.A45T	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	325	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18304816	18304816	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18304816G>A	uc002zng.3	-	24	3781	c.3428C>T	c.(3427-3429)TCA>TTA	p.S1143L	MICAL3_uc011agl.1_Missense_Mutation_p.S1059L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1143	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18387532	18387532	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18387532A>C	uc002zng.3	-	3	691	c.338T>G	c.(337-339)GTT>GGT	p.V113G	MICAL3_uc011agl.1_Missense_Mutation_p.V113G|MICAL3_uc002znh.2_Missense_Mutation_p.V113G|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V113G|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.V113G|MICAL3_uc011agm.1_Missense_Mutation_p.V113G	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19341549	19341549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19341549G>A	uc002zpf.1	-	22	2874	c.2654C>T	c.(2653-2655)CCG>CTG	p.P885L	HIRA_uc011agx.1_Missense_Mutation_p.P751L|HIRA_uc010grn.1_Missense_Mutation_p.P678L|HIRA_uc010gro.1_Missense_Mutation_p.P841L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	885	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)																	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19898959	19898959	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19898959G>T	uc011ahc.1	-	8	636	c.603C>A	c.(601-603)GCC>GCA	p.A201A	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.A200A|TXNRD2_uc010grv.1_Silent_p.A201A|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.A169A	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	201					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)																	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19960547	19960547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19960547G>A	uc002zqz.2	-	15	2722	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	ARVCF_uc002zqy.2_Silent_p.R333R	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	817	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20760242	20760242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20760242G>A	uc010gsm.2	+	6	1131	c.919G>A	c.(919-921)GGC>AGC	p.G307S	ZNF74_uc002zsg.2_Missense_Mutation_p.G236S|ZNF74_uc002zsh.2_Missense_Mutation_p.G307S|ZNF74_uc002zsi.2_Missense_Mutation_p.G236S|ZNF74_uc010gsn.2_Missense_Mutation_p.G236S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	307	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800921	20800921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800921T>C	uc002zsl.1	-	6	1457	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	KLHL22_uc011ahr.1_Missense_Mutation_p.I307V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	450	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800941	20800941	+	Missense_Mutation	SNP	G	A	A	rs147687020	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800941G>A	uc002zsl.1	-	6	1437	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	KLHL22_uc011ahr.1_Missense_Mutation_p.T300M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	443	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21156280	21156280	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21156280C>T	uc002zsz.3	-	14	1762	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	PI4KA_uc010gsq.1_Missense_Mutation_p.A569T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	511					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288079	21288079	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21288079A>T	uc002ztf.2	+	2	833	c.324A>T	c.(322-324)CCA>CCT	p.P108P	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	108					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)															---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384141	21384141	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21384141G>A	uc002zud.2	-	3	1550	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	SLC7A4_uc002zue.2_Silent_p.C494C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	494	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800343	21800343	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21800343C>G	uc002zur.3	+	3	1389	c.1159C>G	c.(1159-1161)CCC>GCC	p.P387A	HIC2_uc002zus.3_Missense_Mutation_p.P387A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	387					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)																---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21991211	21991211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21991211T>C	uc002zve.2	+	5	1787	c.1694T>C	c.(1693-1695)ATG>ACG	p.M565T		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|skin(1)	2	Colorectal(54;0.105)																	---	---	---	---
PPM1F	9647	broad.mit.edu	37	22	22277457	22277457	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22277457G>A	uc002zvp.1	-	8					PPM1F_uc011aik.1_3'UTR	NM_014634	NP_055449			protein phosphatase 1F						apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22316889	22316889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22316889G>A	uc002zvs.2	-	13	1872	c.1437C>T	c.(1435-1437)GGC>GGT	p.G479G	TOP3B_uc010gtm.1_Silent_p.G24G|TOP3B_uc002zvr.2_Silent_p.G204G|TOP3B_uc010gtl.2_Silent_p.G479G|TOP3B_uc002zvt.3_Silent_p.G479G	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	479					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)														---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22385665	22385665	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22385665G>A	uc011aim.1	+	2		c.145G>A			uc002zvu.2_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22677192	22677192	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22677192C>T	uc011aim.1	+	36		c.3232C>T			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22730655	22730655	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22730655T>C	uc011aim.1	+	44		c.4822T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22735512	22735512	+	RNA	SNP	G	T	T	rs61731360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22735512G>T	uc011aim.1	+	46		c.5308G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22786500	22786500	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22786500C>T	uc011aim.1	+	67		c.6683C>T								Parts of antibodies, mostly variable regions.												0																OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23011168	23011168	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23011168T>C	uc011aim.1	+	121		c.7854T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23264833	23264833	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23264833G>T	uc011aim.1	+	379		c.16654G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438549	23438549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23438549A>G	uc002zwu.1	+	2	1204	c.667A>G	c.(667-669)ATC>GTC	p.I223V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	223						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23465488	23465488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23465488G>A	uc002zwu.1	+	3	1475	c.938G>A	c.(937-939)CGC>CAC	p.R313H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	313						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23495329	23495329	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23495329G>A	uc002zwv.1	+						RAB36_uc010gtw.1_Intron	NM_004914	NP_004905			RAB36, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
BCR	613	broad.mit.edu	37	22	23540529	23540529	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23540529T>C	uc002zww.2	+						BCR_uc002zwx.2_Intron	NM_004327	NP_004318			breakpoint cluster region isoform 1						regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12								T	ABL1| FGFR1|JAK2 	CML|ALL|AML								---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24143232	24143232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24143232G>A	uc002zyb.2	+	4	671	c.464G>A	c.(463-465)CGC>CAC	p.R155H	SMARCB1_uc002zyg.2_Missense_Mutation_p.R155H|SMARCB1_uc011ajb.1_Missense_Mutation_p.R146H|SMARCB1_uc002zya.2_Missense_Mutation_p.R155H|SMARCB1_uc002zyc.2_Missense_Mutation_p.R146H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R146H|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	155	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)						D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24459471	24459471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24459471T>C	uc002zzi.1	+	14	1873	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	CABIN1_uc002zzj.1_Silent_p.P532P|CABIN1_uc002zzl.1_Silent_p.P582P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	582					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580778	24580778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580778T>C	uc002zzn.1	+	5	696	c.652T>C	c.(652-654)TAC>CAC	p.Y218H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	218	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580867	24580867	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580867T>C	uc002zzn.1	+	5	785	c.741T>C	c.(739-741)GGT>GGC	p.G247G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	247	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
CYTSA	23384	broad.mit.edu	37	22	24717913	24717913	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24717913T>C	uc002zzw.2	+	5	1272	c.965T>C	c.(964-966)GTG>GCG	p.V322A	CYTSA_uc002zzv.3_Missense_Mutation_p.V322A|CYTSA_uc011ajq.1_Missense_Mutation_p.V322A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	322					cell cycle|cell division						0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26070497	26070497	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26070497T>C	uc003abx.3	+	8	794	c.647_splice	c.e8+2	p.M216_splice	ADRBK2_uc010gux.2_Splice_Site_p.M216_splice|ADRBK2_uc003abw.2_Splice_Site_p.M103_splice|ADRBK2_uc003aby.3_Splice_Site	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26219495	26219495	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26219495T>A	uc003abz.1	+	13	2795	c.2545T>A	c.(2545-2547)TTT>ATT	p.F849I	MYO18B_uc003aca.1_Missense_Mutation_p.F730I|MYO18B_uc010guy.1_Missense_Mutation_p.F730I|MYO18B_uc010guz.1_Missense_Mutation_p.F730I|MYO18B_uc011aka.1_Missense_Mutation_p.F3I|MYO18B_uc011akb.1_Missense_Mutation_p.F362I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	849	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26707780	26707780	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26707780C>A	uc003acb.2	+	8	1884	c.1728C>A	c.(1726-1728)AAC>AAA	p.N576K	SEZ6L_uc003acc.2_Missense_Mutation_p.N576K|SEZ6L_uc011akc.1_Missense_Mutation_p.N576K|SEZ6L_uc003acd.2_Missense_Mutation_p.N576K|SEZ6L_uc011akd.1_Missense_Mutation_p.N576K|SEZ6L_uc003ace.2_Missense_Mutation_p.N576K|SEZ6L_uc003acf.1_Missense_Mutation_p.N349K|SEZ6L_uc010gvc.1_Missense_Mutation_p.N349K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	576	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26860374	26860374	+	Missense_Mutation	SNP	C	T	T	rs143711674	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26860374C>T	uc003acl.2	-	11	1881	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	HPS4_uc003aci.2_Missense_Mutation_p.A403T|HPS4_uc003acj.2_Missense_Mutation_p.A272T|HPS4_uc003ack.2_Missense_Mutation_p.A199T|HPS4_uc003acn.2_Missense_Mutation_p.A254T|HPS4_uc010gvd.1_Missense_Mutation_p.A426T|HPS4_uc003ach.2_Missense_Mutation_p.A143T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	408					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														Hermansky-Pudlak_syndrome				---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28256181	28256181	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28256181G>T	uc003adk.2	-	9	659	c.583C>A	c.(583-585)CTG>ATG	p.L195M	PITPNB_uc011akh.1_Missense_Mutation_p.L197M|PITPNB_uc003adl.2_Missense_Mutation_p.L195M|PITPNB_uc011akg.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	195					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28293787	28293787	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28293787A>G	uc003adk.2	-	4	365	c.289_splice	c.e4+1	p.I97_splice	PITPNB_uc011akh.1_Splice_Site_p.I99_splice|PITPNB_uc003adl.2_Splice_Site_p.I97_splice	NM_012399	NP_036531			phosphatidylinositol transfer protein, beta						lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29141962	29141962	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29141962A>G	uc003aea.2	+	4	575	c.534A>G	c.(532-534)GAA>GAG	p.E178E		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	178					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1																		---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29193152	29193152	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29193152T>C	uc011akl.1	-	3	414	c.366A>G	c.(364-366)AAA>AAG	p.K122K	XBP1_uc003aec.2_5'Flank|XBP1_uc003aed.2_Silent_p.K72K|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	122	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445922	29445922	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29445922A>G	uc003aeg.2	+	8	1618	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	ZNRF3_uc003aeh.1_Missense_Mutation_p.T485A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	585	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29534823	29534823	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29534823T>C	uc011akm.1	+	7	1187	c.1174_splice	c.e7+2	p.G392_splice	KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Splice_Site_p.G275_splice	NM_032045	NP_114434			kringle-containing transmembrane protein 1						cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5																		---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29683072	29683072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29683072A>G	uc003aet.2	+	7	1070	c.742A>G	c.(742-744)AGC>GGC	p.S248G	EWSR1_uc003aes.3_Missense_Mutation_p.S248G|EWSR1_uc003aev.2_Missense_Mutation_p.S254G|EWSR1_uc003aew.2_Missense_Mutation_p.S192G|EWSR1_uc003aex.2_Missense_Mutation_p.S248G|EWSR1_uc003aey.2_Missense_Mutation_p.S43G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	248	28.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254								T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29735105	29735105	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29735105G>A	uc003afj.2	-	16	2221	c.2037C>T	c.(2035-2037)TTC>TTT	p.F679F	AP1B1_uc003afi.2_Silent_p.F672F|AP1B1_uc003afk.2_Silent_p.F672F|AP1B1_uc003afl.2_Silent_p.F672F|AP1B1_uc011ako.1_Silent_p.F232F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	679	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29921862	29921862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29921862T>C	uc003afr.2	-	13	1475	c.1140A>G	c.(1138-1140)ACA>ACG	p.T380T	THOC5_uc003afq.2_Silent_p.T41T|THOC5_uc003afs.2_Silent_p.T380T|THOC5_uc003aft.2_Silent_p.T380T|THOC5_uc003afu.2_Silent_p.T380T|THOC5_uc010gvo.2_Silent_p.T124T	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	380			T -> K (in a breast cancer sample; somatic mutation).		intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	p.T380K(1)		breast(3)	3																		---	---	---	---
NIPSNAP1	8508	broad.mit.edu	37	22	29957621	29957621	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29957621G>C	uc003afx.3	-	6	526	c.453C>G	c.(451-453)TTC>TTG	p.F151L	NIPSNAP1_uc011akp.1_Missense_Mutation_p.F131L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	151								p.?(1)		skin(1)	1																		---	---	---	---
NF2	4771	broad.mit.edu	37	22	30038225	30038225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30038225G>A	uc003age.3	+	4	841	c.398G>A	c.(397-399)TGC>TAC	p.C133Y	NF2_uc003afy.3_Missense_Mutation_p.C133Y|NF2_uc003afz.3_Missense_Mutation_p.C50Y|NF2_uc003agf.3_Missense_Mutation_p.C133Y|NF2_uc003agb.3_Missense_Mutation_p.C56Y|NF2_uc003agc.3_Missense_Mutation_p.C95Y|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.C133Y|NF2_uc003aga.3_Missense_Mutation_p.C91Y|NF2_uc003agh.3_Missense_Mutation_p.C92Y|NF2_uc003agi.3_Missense_Mutation_p.C50Y|NF2_uc003agj.3_Missense_Mutation_p.C133Y|NF2_uc003agk.3_Missense_Mutation_p.C95Y	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	133	FERM.		C -> R (in NF2).		actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.L127_D382del(1)|p.L127_P134del(1)|p.K123fs*2(1)|p.V110_L141del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728								D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185132	30185132	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30185132C>T	uc003agr.2	-	20	2249	c.2144G>A	c.(2143-2145)CGA>CAA	p.R715Q	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R715Q|ASCC2_uc011akr.1_Missense_Mutation_p.R639Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)															---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691001	30691001	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30691001G>A	uc011akt.1	-	5	592	c.568C>T	c.(568-570)CGG>TGG	p.R190W	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.R48W|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R102W|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R197W|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R190W	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	190	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30730630	30730630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30730630C>T	uc003ahl.2	-	16	2467	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	779	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30738209	30738209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30738209T>C	uc003ahl.2	-	6	989	c.857A>G	c.(856-858)GAC>GGC	p.D286G		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	286					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30781958	30781958	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30781958C>T	uc003ahp.2	-	4	522	c.522G>A	c.(520-522)CTG>CTA	p.L174L	RNF215_uc011akw.1_Silent_p.L79L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	174	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31091460	31091460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31091460G>A	uc003aiy.1	+	1	668	c.564G>A	c.(562-564)TGG>TGA	p.W188*	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Nonsense_Mutation_p.W188*|OSBP2_uc011alb.1_Nonsense_Mutation_p.W188*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.W188*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	188	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31285474	31285474	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31285474C>T	uc003aiy.1	+						OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Intron|OSBP2_uc003aja.1_Intron|OSBP2_uc011alc.1_Intron|OSBP2_uc003ajb.2_Intron|OSBP2_uc011ald.1_Intron|OSBP2_uc010gwd.1_Intron	NM_030758	NP_110385			oxysterol binding protein 2 isoform a						lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31328629	31328629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31328629C>T	uc003aje.1	-	24	3828	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	884							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31673000	31673000	+	Intron	SNP	C	T	T	rs12160336		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31673000C>T	uc003akh.2	+						LIMK2_uc003akg.2_Silent_p.D583D|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Silent_p.D645D|LIMK2_uc003akk.2_Intron|LIMK2_uc011aln.1_Intron	NM_005569	NP_005560			LIM domain kinase 2 isoform 2a							mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31998288	31998288	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31998288C>A	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
YWHAH	7533	broad.mit.edu	37	22	32352260	32352260	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32352260A>G	uc003alz.2	+	2	463	c.222A>G	c.(220-222)GGA>GGG	p.G74G	YWHAH_uc010gwl.2_Silent_p.G4G|YWHAH_uc003ama.2_Silent_p.G4G|YWHAH_uc010gwm.2_Silent_p.G61G	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	74					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1																		---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32616895	32616895	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32616895A>C	uc003ami.2	-							NM_014227	NP_055042			solute carrier family 5 (low affinity glucose						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0																		---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33733731	33733731	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33733731A>G	uc003and.3	-	11	1767	c.1188T>C	c.(1186-1188)TTT>TTC	p.F396F	LARGE_uc011amd.1_Silent_p.F195F|LARGE_uc003ane.3_Silent_p.F396F|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.F328F|LARGE_uc011amf.1_Silent_p.F396F|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	396	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35804510	35804510	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35804510G>A	uc003anu.3	+	6	800	c.706G>A	c.(706-708)GTC>ATC	p.V236I	MCM5_uc010gwr.2_Missense_Mutation_p.V45I|MCM5_uc003anv.3_Missense_Mutation_p.V193I|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	236					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1																		---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35947862	35947862	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35947862A>G	uc003anx.2	+	3	789	c.584A>G	c.(583-585)GAG>GGG	p.E195G	RASD2_uc003any.2_Missense_Mutation_p.E195G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	195	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36054697	36054697	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36054697A>T	uc003aoe.2	+	3	380	c.86A>T	c.(85-87)GAG>GTG	p.E29V	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	29					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36055239	36055239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36055239G>A	uc003aoe.2	+	3	922	c.628G>A	c.(628-630)GTC>ATC	p.V210I	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	210					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
RBM9	23543	broad.mit.edu	37	22	36140273	36140273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36140273G>A	uc003aon.3	-	14	1447	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RBM9_uc003aog.3_Silent_p.Y351Y|RBM9_uc003aol.3_Silent_p.Y370Y|RBM9_uc003aoj.3_Silent_p.Y374Y|RBM9_uc003aok.3_Missense_Mutation_p.T358I|RBM9_uc003aoh.3_Missense_Mutation_p.T361I|RBM9_uc003aom.3_Silent_p.Y352Y|RBM9_uc010gwu.2_Missense_Mutation_p.T361I|RBM9_uc003aoo.3_Silent_p.Y444Y	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	384					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
APOL2	23780	broad.mit.edu	37	22	36624003	36624003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36624003C>T	uc003aoz.2	-	5	797	c.461G>A	c.(460-462)GGT>GAT	p.G154D	APOL2_uc011amm.1_Missense_Mutation_p.G266D|APOL2_uc003apa.2_Missense_Mutation_p.G154D	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36692912	36692912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36692912C>T	uc003apg.2	-	25	3480	c.3249G>A	c.(3247-3249)GAG>GAA	p.E1083E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1083	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
FOXRED2	80020	broad.mit.edu	37	22	36902087	36902087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36902087T>C	uc003apn.3	-	1	491	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y128C|FOXRED2_uc003app.3_Missense_Mutation_p.Y128C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	128					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2																		---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603822	37603822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37603822T>C	uc003ara.2	-	2	83	c.21A>G	c.(19-21)TCA>TCG	p.S7S	SSTR3_uc003arb.2_Silent_p.S7S	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37695345	37695345	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37695345C>T	uc003arf.2	+	6	548	c.432C>T	c.(430-432)CTC>CTT	p.L144L	CYTH4_uc003are.2_Silent_p.L144L|CYTH4_uc011amw.1_Silent_p.L87L|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	144	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37707044	37707044	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37707044C>T	uc003arf.2	+	10	940	c.824C>T	c.(823-825)ACG>ATG	p.T275M	CYTH4_uc011amw.1_Missense_Mutation_p.T218M|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	275	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37708129	37708129	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37708129C>T	uc003arf.2	+	12	1142	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	CYTH4_uc011amw.1_Silent_p.D285D|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	342	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770240	37770240	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37770240A>G	uc003asq.3	-	3	2121	c.1335T>C	c.(1333-1335)GCT>GCC	p.A445A		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	445	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37771126	37771126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37771126C>T	uc003asq.3	-	3	1235	c.449G>A	c.(448-450)TGC>TAC	p.C150Y		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	150	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38046210	38046210	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38046210C>T	uc003ati.2	+	15	1479	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.A489V|SH3BP1_uc003ath.1_Silent_p.G456G|SH3BP1_uc003atj.1_Silent_p.G392G|SH3BP1_uc003atk.1_Silent_p.G370G|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	456	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130983	38130983	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38130983A>G	uc003atr.2	+	9	4911	c.4640A>G	c.(4639-4641)TAC>TGC	p.Y1547C	TRIOBP_uc003atu.2_Missense_Mutation_p.Y1375C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1547					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)															OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38165151	38165151	+	Missense_Mutation	SNP	G	A	A	rs61729062		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38165151G>A	uc003atr.2	+	20	6963	c.6692G>A	c.(6691-6693)CGC>CAC	p.R2231H	TRIOBP_uc003atu.2_Missense_Mutation_p.R2059H|TRIOBP_uc003atw.2_Missense_Mutation_p.R518H|TRIOBP_uc003atx.1_Missense_Mutation_p.R114H|TRIOBP_uc010gxh.2_Missense_Mutation_p.R114H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2231	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38484913	38484913	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38484913C>T	uc003auw.2	-	10	1104	c.960G>A	c.(958-960)CCG>CCA	p.P320P	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38493074	38493074	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38493074G>A	uc003auw.2	-	7	721	c.577C>T	c.(577-579)CTA>TTA	p.L193L		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	193	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38524328	38524328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38524328A>T	uc003auy.1	-	9	1432	c.1296T>A	c.(1294-1296)CAT>CAA	p.H432Q	PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.H432Q|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.H397Q	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	432					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)													---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38689315	38689315	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38689315G>A	uc003avj.2	-	10	1490	c.1229C>T	c.(1228-1230)CCA>CTA	p.P410L	CSNK1E_uc003avk.2_Missense_Mutation_p.P410L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.P410L|CSNK1E_uc003avn.1_Missense_Mutation_p.P94L|CSNK1E_uc003avo.2_Missense_Mutation_p.P410L	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	410					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)																	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38824086	38824086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38824086G>A	uc003avs.1	-	2	149	c.52C>T	c.(52-54)CGC>TGC	p.R18C	KCNJ4_uc003avt.1_Missense_Mutation_p.R18C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	18	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)																	---	---	---	---
APOBEC3B	9582	broad.mit.edu	37	22	39382383	39382383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39382383G>A	uc003awo.1	+	4	589	c.535G>A	c.(535-537)GCA>ACA	p.A179T	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.A179T|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	179					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)																	---	---	---	---
APOBEC3G	60489	broad.mit.edu	37	22	39482481	39482481	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39482481T>C	uc003awx.2	+	6	1275	c.933T>C	c.(931-933)ACT>ACC	p.T311T	APOBEC3G_uc003awy.2_Silent_p.T244T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	311					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)																	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39715086	39715086	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39715086T>A	uc003axi.2	-						RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_Intron|RPL3_uc011aoj.1_Intron|SNORD43_uc003axn.1_RNA	NM_000967	NP_000958			ribosomal protein L3 isoform a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39907986	39907986	+	Missense_Mutation	SNP	C	T	T	rs144526373		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39907986C>T	uc003axx.2	+	4	775	c.277C>T	c.(277-279)CGG>TGG	p.R93W	SMCR7L_uc003axw.2_Missense_Mutation_p.R93W|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	93						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39910325	39910325	+	Silent	SNP	G	A	A	rs142355530		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39910325G>A	uc003axx.2	+	6	1887	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	SMCR7L_uc003axw.2_Intron|SMCR7L_uc003axy.2_Silent_p.T285T	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	463						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)															OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40055777	40055777	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40055777T>C	uc003ayc.2	+	14	2524	c.2524T>C	c.(2524-2526)TTT>CTT	p.F842L	CACNA1I_uc003ayd.2_Missense_Mutation_p.F807L|CACNA1I_uc003aye.2_Missense_Mutation_p.F757L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F722L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	842	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40061520	40061520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40061520C>T	uc003ayc.2	+	22	3869	c.3869C>T	c.(3868-3870)CCG>CTG	p.P1290L	CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255L|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205L|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1290	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40661413	40661413	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40661413A>T	uc011aor.1	+	5	1390	c.1179A>T	c.(1177-1179)GGA>GGT	p.G393G	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.G393G|TNRC6B_uc003ayo.2_Silent_p.G197G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	393					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40711435	40711435	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40711435A>G	uc011aor.1	+	20	5038	c.4827A>G	c.(4825-4827)AAA>AAG	p.K1609K	TNRC6B_uc003aym.2_Silent_p.K805K|TNRC6B_uc003ayn.3_Silent_p.K1499K|TNRC6B_uc003ayo.2_Silent_p.K1356K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1609					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
ADSL	158	broad.mit.edu	37	22	40746002	40746002	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40746002A>G	uc003ayp.3	+	2	379	c.320A>G	c.(319-321)CAC>CGC	p.H107R	ADSL_uc003ays.3_Missense_Mutation_p.H107R|ADSL_uc003ayq.3_Missense_Mutation_p.H107R|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H107R	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	107					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1																		---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077411	41077411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41077411T>C	uc003ayz.2	+	2	1016	c.748T>C	c.(748-750)TAT>CAT	p.Y250H	MCHR1_uc003aza.2_Missense_Mutation_p.Y139H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	250	Helical; Name=4; (Potential).		Y -> H.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0																		---	---	---	---
ST13	6767	broad.mit.edu	37	22	41226881	41226881	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41226881A>T	uc003aze.2	-	9	904	c.761T>A	c.(760-762)GTT>GAT	p.V254D	ST13_uc011aow.1_Missense_Mutation_p.V244D	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	254							protein binding, bridging				0																		---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41645453	41645453	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41645453A>G	uc003azs.2	-	14	3045	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	RANGAP1_uc003azt.2_Silent_p.S525S|RANGAP1_uc003azu.2_Silent_p.S525S|RANGAP1_uc003azr.2_Silent_p.S38S|RANGAP1_uc010gyk.2_Silent_p.S28S|RANGAP1_uc011aoz.1_Silent_p.S470S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	525	SUMO conjugation.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0																		---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41745258	41745258	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41745258C>T	uc003azw.2	+	16	2117	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650	C3H1-type 2.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
TOB2	10766	broad.mit.edu	37	22	41833079	41833079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41833079T>C	uc003azz.1	-	2	978	c.271A>G	c.(271-273)AGT>GGT	p.S91G		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	91					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42059831	42059831	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42059831G>A	uc003bao.1	+	13					XRCC6_uc003bap.1_3'UTR|XRCC6_uc011apc.1_3'UTR|XRCC6_uc003baq.1_3'UTR|XRCC6_uc003bar.1_3'UTR|XRCC6_uc003bas.1_3'UTR	NM_001469	NP_001460			ATP-dependent DNA helicase II, 70 kDa subunit						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5													Direct_reversal_of_damage|NHEJ					---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262990	42262990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42262990G>A	uc003bbi.2	+	2	413	c.244G>A	c.(244-246)GGA>AGA	p.G82R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	82	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42269866	42269866	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42269866T>C	uc003bbi.2	+	5	1101	c.932T>C	c.(931-933)GTG>GCG	p.V311A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	311	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42294789	42294789	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42294789C>T	uc003bbi.2	+						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_Intron|uc011api.1_5'Flank|MIR33A_hsa-mir-33a|MI0000091_5'Flank	NM_004599	NP_004590			sterol regulatory element-binding transcription						cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42609857	42609857	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42609857G>T	uc003bcj.1	-	1	1589	c.1455C>A	c.(1453-1455)ACC>ACA	p.T485T	TCF20_uc003bck.1_Silent_p.T485T|TCF20_uc003bnt.2_Silent_p.T485T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---
NFAM1	150372	broad.mit.edu	37	22	42807623	42807623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0																		---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42969952	42969952	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42969952T>C	uc003bcr.2	+	12	938	c.836T>C	c.(835-837)TTT>TCT	p.F279S	SERHL2_uc010gyz.2_Missense_Mutation_p.F215S|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron|RRP7B_uc003bct.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	279						perinuclear region of cytoplasm|peroxisome	hydrolase activity				0																		---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43023656	43023656	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43023656T>A	uc003bcz.2	-	6	586	c.502A>T	c.(502-504)ATC>TTC	p.I168F	CYB5R3_uc010gzc.1_Missense_Mutation_p.I42F|CYB5R3_uc003bcw.2_Missense_Mutation_p.I158F|CYB5R3_uc011aps.1_Missense_Mutation_p.I201F|CYB5R3_uc003bcy.2_Missense_Mutation_p.I145F|CYB5R3_uc003bcx.2_Missense_Mutation_p.I145F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)													---	---	---	---
A4GALT	53947	broad.mit.edu	37	22	43089576	43089576	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43089576G>T	uc003bdb.2	-	3	643	c.382C>A	c.(382-384)CTG>ATG	p.L128M	A4GALT_uc010gzd.2_Missense_Mutation_p.L128M	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	128	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2																		---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43286998	43286998	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43286998G>A	uc010gzg.2	-	4	630	c.408C>T	c.(406-408)GAC>GAT	p.D136D	PACSIN2_uc003bdg.3_Silent_p.D136D|PACSIN2_uc003bde.3_Silent_p.D136D|PACSIN2_uc003bdf.3_Silent_p.D136D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	136					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)																---	---	---	---
MCAT	27349	broad.mit.edu	37	22	43533210	43533210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43533210G>A	uc003bdl.1	-	3	655	c.606C>T	c.(604-606)TCC>TCT	p.S202S	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	202					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)														OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950910	43950910	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950910C>T	uc003bdy.1	-	27	3702	c.3487G>A	c.(3487-3489)GAC>AAC	p.D1163N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D389N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950972	43950972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950972G>A	uc003bdy.1	-	27	3640	c.3425C>T	c.(3424-3426)GCT>GTT	p.A1142V	EFCAB6_uc003bdz.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzj.1_Missense_Mutation_p.A368V	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950974	43950974	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950974T>G	uc003bdy.1	-	27	3638	c.3423A>C	c.(3421-3423)ACA>ACC	p.T1141T	EFCAB6_uc003bdz.1_Silent_p.T989T|EFCAB6_uc010gzi.1_Silent_p.T989T|EFCAB6_uc010gzj.1_Silent_p.T367T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
SAMM50	25813	broad.mit.edu	37	22	44373776	44373776	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44373776G>T	uc003bej.2	+	10	1071	c.874G>T	c.(874-876)GAT>TAT	p.D292Y	SAMM50_uc011aqd.1_Missense_Mutation_p.D82Y|SAMM50_uc003bek.2_Missense_Mutation_p.D97Y	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	292					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)																---	---	---	---
C22orf9	23313	broad.mit.edu	37	22	45598993	45598993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45598993G>A	uc003bfx.1	-	7	796	c.730C>T	c.(730-732)CGC>TGC	p.R244C	C22orf9_uc010gzw.1_Missense_Mutation_p.R96C|C22orf9_uc003bfv.1_Missense_Mutation_p.R253C|C22orf9_uc003bfw.1_Missense_Mutation_p.R249C|C22orf9_uc010gzx.2_Missense_Mutation_p.R226C|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	244							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)														---	---	---	---
FAM118A	55007	broad.mit.edu	37	22	45728581	45728581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45728581G>A	uc003bfz.3	+	7	1543	c.927G>A	c.(925-927)CAG>CAA	p.Q309Q	FAM118A_uc003bga.3_Silent_p.Q309Q|FAM118A_uc011aqr.1_Silent_p.Q127Q	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	309						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655545	46655545	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655545A>T	uc003bhh.2	-	1	3675	c.3675T>A	c.(3673-3675)GAT>GAA	p.D1225E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1225	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655740	46655740	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655740C>A	uc003bhh.2	-	1	3480	c.3480G>T	c.(3478-3480)ATG>ATT	p.M1160I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1160	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46712215	46712215	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46712215T>C	uc011aqy.1	+	7	1550	c.1338T>C	c.(1336-1338)ACT>ACC	p.T446T	GTSE1_uc011aqz.1_Silent_p.T293T|GTSE1_uc003bhl.1_Silent_p.T71T|GTSE1_uc003bhm.1_Silent_p.T71T	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	427					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46719117	46719117	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46719117T>G	uc011aqy.1	+	8	1675	c.1463T>G	c.(1462-1464)CTT>CGT	p.L488R	GTSE1_uc011aqz.1_Missense_Mutation_p.L335R|GTSE1_uc003bhl.1_Missense_Mutation_p.L113R|GTSE1_uc003bhm.1_Missense_Mutation_p.L113R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	469					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46929687	46929687	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46929687G>T	uc003bhw.1	-	1	3381	c.3381C>A	c.(3379-3381)ATC>ATA	p.I1127I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1127	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47071445	47071445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47071445A>G	uc003bhx.2	+	16	1598	c.1559A>G	c.(1558-1560)CAG>CGG	p.Q520R	GRAMD4_uc010had.2_Missense_Mutation_p.Q459R|GRAMD4_uc003bhy.2_Missense_Mutation_p.Q43R	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	520	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)														---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086049	47086049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086049T>C	uc003bia.2	-	12	1488	c.1381A>G	c.(1381-1383)ACG>GCG	p.T461A	CERK_uc010hae.2_Missense_Mutation_p.T263A	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	461					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47189568	47189568	+	Missense_Mutation	SNP	C	T	T	rs141580250	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47189568C>T	uc003bib.2	+	3	425	c.290C>T	c.(289-291)ACG>ATG	p.T97M	TBC1D22A_uc010haf.2_Missense_Mutation_p.T67M|TBC1D22A_uc003bic.2_Missense_Mutation_p.T97M|TBC1D22A_uc003bie.2_Missense_Mutation_p.T78M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T50M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	97						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47507445	47507445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47507445C>T	uc003bib.2	+	12	1506	c.1371C>T	c.(1369-1371)TGC>TGT	p.C457C	TBC1D22A_uc010haf.2_Silent_p.C427C|TBC1D22A_uc003bic.2_Silent_p.C398C|TBC1D22A_uc003bie.2_Silent_p.C379C|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.C410C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	457						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50280486	50280486	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50280486C>T	uc003bix.2	+	2	3646	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1059						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50298028	50298028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50298028G>A	uc003biy.2	-	8	1393	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	373					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50313888	50313888	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50313888C>T	uc003bja.2	+	4	543	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Silent_p.D136D|CRELD2_uc010haj.2_Silent_p.D136D|CRELD2_uc010hal.2_Silent_p.D136D|CRELD2_uc010hak.2_Silent_p.D136D|CRELD2_uc010ham.2_Silent_p.D136D	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	136	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50437776	50437776	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50437776T>G	uc003bje.1	-	9	779	c.547_splice	c.e9-1	p.G183_splice		NM_001001694	NP_001001694			interleukin 17 receptor E-like											pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50599130	50599130	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50599130A>G	uc003bjj.2	+	25	3421	c.3338A>G	c.(3337-3339)GAA>GGA	p.E1113G	MOV10L1_uc003bjk.3_Intron|MOV10L1_uc011arp.1_Missense_Mutation_p.E1093G|MOV10L1_uc003bjl.2_Missense_Mutation_p.E240G	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1113					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50693732	50693732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50693732C>T	uc003bkm.1	-	11	1069	c.918G>A	c.(916-918)CTG>CTA	p.L306L	MAPK12_uc003bkn.2_Silent_p.L125L|MAPK12_uc003bko.2_Silent_p.L216L|MAPK12_uc003bkl.1_Silent_p.L296L|MAPK12_uc003bkp.2_Silent_p.L91L|MAPK12_uc003bkq.2_Silent_p.L125L	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	306	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50722592	50722592	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50722592A>G	uc003bkv.3	-	13	2338	c.2232T>C	c.(2230-2232)TCT>TCC	p.S744S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	744	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
SAPS2	9701	broad.mit.edu	37	22	50878428	50878428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50878428C>T	uc003blb.1	+	22	2746	c.2324C>T	c.(2323-2325)ACA>ATA	p.T775I	SAPS2_uc003bky.1_Missense_Mutation_p.T749I|SAPS2_uc003bkz.1_Missense_Mutation_p.T748I|SAPS2_uc003blc.2_Missense_Mutation_p.T775I|SAPS2_uc003bla.1_Missense_Mutation_p.T749I|SAPS2_uc003bld.1_Missense_Mutation_p.T308I	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	775						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)														---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50906356	50906356	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50906356C>T	uc003blh.2	-						SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Intron	NM_002972	NP_002963			SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLCXD1	55344	broad.mit.edu	37	X	209792	209792	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:209792C>T	uc004cpc.2	+	6	952	c.640C>T	c.(640-642)CTG>TTG	p.L214L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	302119	302119	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:302119C>G	uc004cpg.2	-	9	1299	c.1098G>C	c.(1096-1098)GTG>GTC	p.V366V	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	366					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	306303	306303	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:306303C>T	uc004cpg.2	-	7	1185	c.984G>A	c.(982-984)ACG>ACA	p.T328T	PPP2R3B_uc011mha.1_Silent_p.T167T	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	328					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1428459	1428459	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1428459A>G	uc010nct.2	+	14					CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_3'UTR|CSF2RA_uc004cpo.2_3'UTR|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_3'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.I371V|CSF2RA_uc010ncv.2_3'UTR|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155001			colony stimulating factor 2 receptor alpha chain							extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1471268	1471268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1471268G>A	uc004cps.2	+	6	834	c.485G>A	c.(484-486)CGT>CAT	p.R162H	IL3RA_uc011mhd.1_Missense_Mutation_p.R84H	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1505571G>A	uc004cpt.2	-	4	917	c.821C>T	c.(820-822)GCG>GTG	p.A274V	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	274	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)													---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1522303	1522303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1522303G>A	uc004cpx.1	-	13	1836	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.N499N|ASMTL_uc004cpy.1_Silent_p.N559N|ASMTL_uc011mhf.1_Silent_p.N517N	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	575	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540689	1540689	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540689G>A	uc004cpx.1	-	9	1218	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	ASMTL_uc011mhe.1_Silent_p.G293G|ASMTL_uc004cpy.1_Silent_p.G353G|ASMTL_uc011mhf.1_Silent_p.G311G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	369	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540734	1540734	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540734A>G	uc004cpx.1	-	9	1173	c.1062T>C	c.(1060-1062)GGT>GGC	p.G354G	ASMTL_uc011mhe.1_Silent_p.G278G|ASMTL_uc004cpy.1_Silent_p.G338G|ASMTL_uc011mhf.1_Silent_p.G296G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	354	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1553912	1553912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1553912T>C	uc004cpx.1	-						ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Intron	NM_004192	NP_004183			acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584391	1584391	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1584391C>A	uc004cpz.2	-	2	1309	c.1061G>T	c.(1060-1062)AGG>ATG	p.R354M		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	354	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585104	1585104	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1585104A>G	uc004cpz.2	-	2	596	c.348T>C	c.(346-348)TGT>TGC	p.C116C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	116	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
SFRS17A	8227	broad.mit.edu	37	X	1712482	1712482	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1712482G>A	uc004cqa.2	+	2	323	c.127G>A	c.(127-129)GGG>AGG	p.G43R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G43R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	43					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2161159	2161159	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2161159C>T	uc004cqf.3	-	6	758	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	237							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408217	2408217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408217C>T	uc004cqg.2	-	2	745	c.544G>A	c.(544-546)GAG>AAG	p.E182K	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E182K	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408366	2408366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408366C>T	uc004cqg.2	-	2	596	c.395G>A	c.(394-396)GGC>GAC	p.G132D	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.G132D	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	132						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2856150	2856150	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2856150C>T	uc004crc.3	-	9	1525	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	ARSE_uc011mhi.1_Silent_p.E371E|ARSE_uc011mhh.1_Silent_p.E450E	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	425					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2861128	2861128	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2861128A>T	uc004crc.3	-	8	1354	c.1104T>A	c.(1102-1104)GGT>GGA	p.G368G	ARSE_uc011mhi.1_Silent_p.G314G|ARSE_uc011mhh.1_Silent_p.G393G	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	368					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3229042	3229042	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3229042C>T	uc004crg.3	-	7	7359	c.7202G>A	c.(7201-7203)GGC>GAC	p.G2401D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2401	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239357	3239357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239357T>C	uc004crg.3	-	5	4526	c.4369A>G	c.(4369-4371)ACC>GCC	p.T1457A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1457						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239946	3239946	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239946A>T	uc004crg.3	-	5	3937	c.3780T>A	c.(3778-3780)TCT>TCA	p.S1260S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1260						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240584	3240584	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3240584G>T	uc004crg.3	-	5	3299	c.3142C>A	c.(3142-3144)CTA>ATA	p.L1048I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1048						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811353	5811353	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811353G>T	uc010ndh.2	-	6	2457	c.1956C>A	c.(1954-1956)GAC>GAA	p.D652E	NLGN4X_uc004crp.2_Missense_Mutation_p.D672E|NLGN4X_uc004crq.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D689E|NLGN4X_uc004crr.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D652E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	652	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5827247	5827247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5827247C>T	uc010ndh.2	-	4	1160	c.659G>A	c.(658-660)GGC>GAC	p.G220D	NLGN4X_uc004crp.2_Missense_Mutation_p.G240D|NLGN4X_uc004crq.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G257D|NLGN4X_uc004crr.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G220D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	220	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10058909	10058909	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10058909C>T	uc004csx.3	+	6	674	c.476C>T	c.(475-477)ACA>ATA	p.T159I	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	159										ovary(4)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10077876	10077876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10077876G>A	uc004csx.3	+	9	988	c.790G>A	c.(790-792)GCC>ACC	p.A264T	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4																		---	---	---	---
MID1	4281	broad.mit.edu	37	X	10437780	10437780	+	Silent	SNP	G	A	A	rs142718564	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10437780G>A	uc004cte.3	-	7	1433	c.1242C>T	c.(1240-1242)TAC>TAT	p.Y414Y	MID1_uc004ctd.3_Silent_p.Y125Y|MID1_uc004ctg.3_Silent_p.Y414Y|MID1_uc004cth.3_Silent_p.Y376Y|MID1_uc004ctk.3_Silent_p.Y414Y|MID1_uc004cti.3_Silent_p.Y414Y|MID1_uc004ctj.3_Silent_p.Y414Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.Y465Y|MID1_uc004ctn.1_Silent_p.Y414Y|MID1_uc004cto.1_Silent_p.Y376Y|MID1_uc004csz.3_Silent_p.Y86Y|MID1_uc004cta.3_Silent_p.Y170Y|MID1_uc004ctb.3_Silent_p.Y74Y|MID1_uc004ctc.3_Silent_p.Y181Y|MID1_uc004ctl.1_Silent_p.Y170Y	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	414	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11157336	11157336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11157336C>T	uc004cup.1	-	13	3445	c.2572G>A	c.(2572-2574)GGG>AGG	p.G858R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G655R|ARHGAP6_uc004cun.1_Missense_Mutation_p.G678R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	858					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12734369	12734369	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12734369A>G	uc004cuz.1	+	15	2297	c.1791A>G	c.(1789-1791)ATA>ATG	p.I597M	FRMPD4_uc011mij.1_Missense_Mutation_p.I589M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	597					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12736059	12736059	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12736059A>G	uc004cuz.1	+	16	3620	c.3114A>G	c.(3112-3114)GCA>GCG	p.A1038A	FRMPD4_uc011mij.1_Silent_p.A1030A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12903718	12903718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12903718C>T	uc004cvc.2	+	3	230	c.91C>T	c.(91-93)CCT>TCT	p.P31S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	31	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12904491	12904491	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12904491G>A	uc004cvc.2	+	3	1003	c.864G>A	c.(862-864)GCG>GCA	p.A288A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	288	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937960	12937960	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12937960C>T	uc004cve.2	+	2	869	c.801C>T	c.(799-801)TGC>TGT	p.C267C	TLR8_uc004cvd.2_Silent_p.C285C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	267	Extracellular (Potential).|LRR 6.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337200	13337200	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337200T>A	uc010ned.2	-	1	1319	c.854A>T	c.(853-855)GAC>GTC	p.D285V		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	285					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337424	13337424	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337424T>C	uc010ned.2	-	1	1095	c.630A>G	c.(628-630)GAA>GAG	p.E210E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	210					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13624572	13624572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13624572T>C	uc004cvi.2	+	6	835	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	EGFL6_uc004cvj.2_Missense_Mutation_p.Y199H|EGFL6_uc011mik.1_Missense_Mutation_p.Y100H	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645222	13645222	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645222A>C	uc004cvi.2	+	11	1618	c.1378A>C	c.(1378-1380)AGC>CGC	p.S460R	EGFL6_uc004cvj.2_Missense_Mutation_p.S461R	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	460	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13753379	13753379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13753379A>G	uc004cvp.3	+	2	384	c.25A>G	c.(25-27)ACC>GCC	p.T9A	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.T8A|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.T8A|OFD1_uc004cvv.3_Missense_Mutation_p.T8A|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	9					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0																		---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14871245	14871245	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14871245A>C	uc004cwg.1	-	6	1510	c.1242T>G	c.(1240-1242)CTT>CTG	p.L414L	FANCB_uc004cwh.1_Silent_p.L414L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	414					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15270368	15270368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15270368A>G	uc004cwl.2	-						ASB9_uc004cwk.2_Intron|ASB9_uc004cwm.2_Intron|ASB9_uc010ner.2_Intron|ASB9_uc004cwn.2_Intron	NM_001031739	NP_001026909			ankyrin repeat and SOCS box-containing 9 isoform						intracellular signal transduction						0	Hepatocellular(33;0.183)																	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15306011	15306011	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15306011A>G	uc004cwp.1	-	6	839	c.839T>C	c.(838-840)CTC>CCC	p.L280P	ASB11_uc004cwo.1_Missense_Mutation_p.L259P|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L263P	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	280	SOCS box.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15540632	15540632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15540632G>A	uc004cww.2	+	7	862	c.674G>A	c.(673-675)GGC>GAC	p.G225D	BMX_uc004cwx.3_Missense_Mutation_p.G225D|BMX_uc004cwy.3_Missense_Mutation_p.G225D	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	225					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15560311	15560311	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15560311A>G	uc004cww.2	+	15	1789	c.1601A>G	c.(1600-1602)CAC>CGC	p.H534R	BMX_uc004cwx.3_Missense_Mutation_p.H534R|BMX_uc004cwy.3_Missense_Mutation_p.H534R	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	534	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16168543	16168543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16168543G>A	uc004cxj.2	+	2	1182	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	177	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)																	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16709660	16709660	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16709660A>G	uc004cxk.2	-						CTPS2_uc004cxl.2_Intron|CTPS2_uc004cxm.2_Intron	NM_001144002	NP_001137474			cytidine triphosphate synthase II						glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)																	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16846369	16846369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16846369T>C	uc004cxq.1	+	4	702	c.651T>C	c.(649-651)CGT>CGC	p.R217R	TXLNG_uc010ney.1_Silent_p.R85R	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	217	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16857989	16857989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16857989C>T	uc004cxq.1	+	9	1249	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	TXLNG_uc010ney.1_Missense_Mutation_p.R268C	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	400	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17092287	17092287	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17092287T>G	uc004cxv.1	+						REPS2_uc004cxw.1_Intron|REPS2_uc011miw.1_Intron	NM_004726	NP_004717			RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17156996	17156996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17156996A>G	uc004cxv.1	+	17	1997	c.1826A>G	c.(1825-1827)AAG>AGG	p.K609R	REPS2_uc004cxw.1_Missense_Mutation_p.K608R|REPS2_uc011miw.1_Missense_Mutation_p.K407R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	609	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17742447	17742447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17742447A>G	uc004cxx.2	+	5	1412	c.1074A>G	c.(1072-1074)ATA>ATG	p.I358M	NHS_uc011mix.1_Missense_Mutation_p.I379M|NHS_uc004cxy.2_Missense_Mutation_p.I202M|NHS_uc004cxz.2_Missense_Mutation_p.I181M|NHS_uc004cya.2_Missense_Mutation_p.I81M	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	358						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
SCML1	6322	broad.mit.edu	37	X	17768146	17768146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17768146C>T	uc004cyb.2	+	6	761	c.436C>T	c.(436-438)CGT>TGT	p.R146C	SCML1_uc004cyc.2_Missense_Mutation_p.R119C|SCML1_uc004cyd.2_Missense_Mutation_p.R25C|SCML1_uc004cye.2_Missense_Mutation_p.R25C	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	146					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18213471	18213471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18213471T>C	uc004cyj.3	-	7	1279	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18260691	18260691	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18260691T>C	uc004cyl.2	-	14	1999	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	614					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264788	18264788	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264788C>G	uc004cyl.2	-	13	1888	c.1731G>C	c.(1729-1731)GTG>GTC	p.V577V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.V577V|SCML2_uc011miz.1_Silent_p.V511V|SCML2_uc010nfc.2_Silent_p.V313V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264789	18264789	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264789A>G	uc004cyl.2	-	13	1887	c.1730T>C	c.(1729-1731)GTG>GCG	p.V577A	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.V577A|SCML2_uc011miz.1_Missense_Mutation_p.V511A|SCML2_uc010nfc.2_Missense_Mutation_p.V313A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18646626	18646626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18646626C>T	uc004cym.2	+	18	2885	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S	CDKL5_uc004cyn.2_Missense_Mutation_p.P878S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	878					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)																	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18836180	18836180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18836180C>A	uc004cyq.2	+	16	1899	c.1418C>A	c.(1417-1419)GCC>GAC	p.A473D	PPEF1_uc004cyp.2_Missense_Mutation_p.A445D|PPEF1_uc004cyr.2_Missense_Mutation_p.A411D|PPEF1_uc004cys.2_Missense_Mutation_p.A473D|PPEF1_uc011mja.1_Missense_Mutation_p.A408D|PPEF1_uc011mjb.1_Missense_Mutation_p.A417D	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	473					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18912463	18912463	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18912463C>T	uc004cyv.3	-	32	3826	c.3396G>A	c.(3394-3396)CCG>CCA	p.P1132P	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.P438P|PHKA2_uc010nfe.1_Silent_p.P164P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1132					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18961916	18961916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18961916T>C	uc004cyv.3	-	7	1059	c.629A>G	c.(628-630)GAG>GGG	p.E210G	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	210					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19413307	19413307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19413307C>T	uc004czk.1	-	17	2148	c.511G>A	c.(511-513)GAG>AAG	p.E171K	MAP3K15_uc004czj.1_Missense_Mutation_p.E131K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	696	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675116	21675116	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675116C>T	uc004czz.1	-	1	1333	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	264										ovary(1)	1																		---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675792	21675792	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675792C>T	uc004czz.1	-	1	657	c.115G>A	c.(115-117)GAA>AAA	p.E39K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	39	BTB.									ovary(1)	1																		---	---	---	---
YY2	404281	broad.mit.edu	37	X	21863457	21863457	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21863457T>A	uc010nfq.2	+	3	590	c.393T>A	c.(391-393)TCT>TCA	p.S131S	MBTPS2_uc004dae.2_Silent_p.S131S|MBTPS2_uc004dab.2_Silent_p.S131S	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
SMS	6611	broad.mit.edu	37	X	21985316	21985316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21985316G>A	uc004dag.2	+	2	153	c.52G>A	c.(52-54)GAT>AAT	p.D18N	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.D18N	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	18					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
SMS	6611	broad.mit.edu	37	X	22012435	22012435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22012435T>C	uc004dag.2	+	11	1168	c.1067T>C	c.(1066-1068)GTA>GCA	p.V356A	SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Missense_Mutation_p.Y68H	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	356					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291585	22291585	+	Silent	SNP	G	A	A	rs144357703		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22291585G>A	uc004dai.1	+	1	526	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159						intracellular	zinc ion binding			lung(1)|pancreas(1)	2																		---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018527	23018527	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23018527G>A	uc004daj.2	+	1	441	c.353G>A	c.(352-354)AGC>AAC	p.S118N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3																		---	---	---	---
APOO	79135	broad.mit.edu	37	X	23876803	23876803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23876803C>T	uc004dax.2	-	6	667	c.436G>A	c.(436-438)GCT>ACT	p.A146T	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	146					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0																		---	---	---	---
CXorf58	254158	broad.mit.edu	37	X	23933870	23933870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23933870G>T	uc004daz.1	+	4	614	c.270G>T	c.(268-270)AAG>AAT	p.K90N	CXorf58_uc011mju.1_Missense_Mutation_p.K90N	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	90											0																		---	---	---	---
KLHL15	80311	broad.mit.edu	37	X	24006408	24006408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24006408T>G	uc004dba.3	-	4	1701	c.1445A>C	c.(1444-1446)AAG>ACG	p.K482T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	482										ovary(1)|breast(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	24326403	24326403	+	IGR	SNP	T	C	C	rs112676860		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24326403T>C								ZFX (93776 upstream) : FAM48B2 (2577 downstream)																																			---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24521631	24521631	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24521631A>T	uc004dbg.2	+						PDK3_uc004dbh.2_Intron	NM_005391	NP_005382			pyruvate dehydrogenase kinase 3 isoform 2						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6																		---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24759545	24759545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24759545T>C	uc004dbl.2	+	21	2275	c.2252T>C	c.(2251-2253)TTC>TCC	p.F751S		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	751					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)													---	---	---	---
Unknown	0	broad.mit.edu	37	X	26179730	26179730	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179730A>G								MAGEB18 (20878 upstream) : MAGEB6 (30827 downstream)																																			---	---	---	---
MAGEB10	139422	broad.mit.edu	37	X	27840426	27840426	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:27840426C>T	uc004dbw.2	+	3	1230	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	335										lung(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
MAGEB3	4114	broad.mit.edu	37	X	30254423	30254423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30254423A>T	uc004dca.1	+	5	1119	c.382A>T	c.(382-384)ATG>TTG	p.M128L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	128	MAGE.										0																		---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30322917	30322917	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30322917T>C	uc004dcf.3	-	2	1207	c.1192A>G	c.(1192-1194)AAG>GAG	p.K398E		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	398	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)													---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30327194	30327194	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30327194G>A	uc004dcf.3	-	1	302	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	96	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GK	2710	broad.mit.edu	37	X	30686200	30686200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30686200T>C	uc004dch.3	+	3	403	c.224T>C	c.(223-225)CTT>CCT	p.L75P	GK_uc010ngj.2_Missense_Mutation_p.L75P|GK_uc004dci.3_Missense_Mutation_p.L75P|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	75					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1																		---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30849565	30849565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30849565G>A	uc004dcj.2	-	11	2781	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TAB3_uc004dck.2_Silent_p.C706C|TAB3_uc010ngl.2_Silent_p.C678C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	706	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31165402	31165402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31165402A>G	uc004dda.1	-	75	11031	c.10787T>C	c.(10786-10788)CTG>CCG	p.L3596P	DMD_uc004dcq.1_Missense_Mutation_p.L867P|DMD_uc004dcr.1_Missense_Mutation_p.L1016P|DMD_uc004dcs.1_Missense_Mutation_p.L1026P|DMD_uc004dct.1_Missense_Mutation_p.L1136P|DMD_uc004dcu.1_Missense_Mutation_p.L1136P|DMD_uc004dcv.1_Missense_Mutation_p.L1123P|DMD_uc004dcw.2_Missense_Mutation_p.L2252P|DMD_uc004dcx.2_Missense_Mutation_p.L2255P|DMD_uc004dcz.2_Missense_Mutation_p.L3473P|DMD_uc004dcy.1_Missense_Mutation_p.L3592P|DMD_uc004ddb.1_Missense_Mutation_p.L3588P|DMD_uc004dcm.1_Missense_Mutation_p.L528P|DMD_uc004dcn.1_Missense_Mutation_p.L515P|DMD_uc004dco.1_Missense_Mutation_p.L528P|DMD_uc004dcp.1_Missense_Mutation_p.L515P|DMD_uc011mkb.1_Missense_Mutation_p.L418P	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3596					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	31196845	31196845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31196845C>T	uc004dda.1	-	70	10408	c.10164G>A	c.(10162-10164)AAG>AAA	p.K3388K	DMD_uc004dcq.1_Silent_p.K659K|DMD_uc004dcr.1_Silent_p.K928K|DMD_uc004dcs.1_Silent_p.K928K|DMD_uc004dct.1_Silent_p.K928K|DMD_uc004dcu.1_Silent_p.K928K|DMD_uc004dcv.1_Silent_p.K928K|DMD_uc004dcw.2_Silent_p.K2044K|DMD_uc004dcx.2_Silent_p.K2047K|DMD_uc004dcz.2_Silent_p.K3265K|DMD_uc004dcy.1_Silent_p.K3384K|DMD_uc004ddb.1_Silent_p.K3380K|DMD_uc004dcm.1_Silent_p.K320K|DMD_uc004dcn.1_Silent_p.K320K|DMD_uc004dco.1_Silent_p.K320K|DMD_uc004dcp.1_Silent_p.K320K|DMD_uc011mkb.1_Silent_p.K320K|DMD_uc010ngm.2_Silent_p.K320K	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3388	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32398784	32398784	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32398784T>A	uc004dda.1	-	34	4932	c.4688A>T	c.(4687-4689)AAG>ATG	p.K1563M	DMD_uc004dcw.2_Missense_Mutation_p.K219M|DMD_uc004dcx.2_Missense_Mutation_p.K222M|DMD_uc004dcz.2_Missense_Mutation_p.K1440M|DMD_uc004dcy.1_Missense_Mutation_p.K1559M|DMD_uc004ddb.1_Missense_Mutation_p.K1555M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1563	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32408235	32408235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32408235C>A	uc004dda.1	-	31	4541	c.4297G>T	c.(4297-4299)GGG>TGG	p.G1433W	DMD_uc004dcw.2_Missense_Mutation_p.G89W|DMD_uc004dcx.2_Missense_Mutation_p.G92W|DMD_uc004dcz.2_Missense_Mutation_p.G1310W|DMD_uc004dcy.1_Missense_Mutation_p.G1429W|DMD_uc004ddb.1_Missense_Mutation_p.G1425W|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1433	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32536157	32536157	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32536157C>A	uc004dda.1	-	18	2504	c.2260G>T	c.(2260-2262)GGC>TGC	p.G754C	DMD_uc004dcz.2_Missense_Mutation_p.G631C|DMD_uc004dcy.1_Missense_Mutation_p.G750C|DMD_uc004ddb.1_Missense_Mutation_p.G746C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G746C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	754	Spectrin 4.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32591638	32591638	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32591638A>C	uc004dda.1	-						DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148408	34148408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148408T>G	uc004ddg.2	-	1	2021	c.1988A>C	c.(1987-1989)AAG>ACG	p.K663T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	663										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148797	34148797	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148797C>A	uc004ddg.2	-	1	1632	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	533										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962797	34962797	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34962797A>G	uc004ddi.1	+	1	1867	c.1849A>G	c.(1849-1851)ACT>GCT	p.T617A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	617										ovary(3)|breast(1)	4																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35944204	35944204	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35944204A>T	uc004ddj.2	+	2	379	c.320A>T	c.(319-321)TAT>TTT	p.Y107F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	107										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35959399	35959399	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35959399G>T	uc004ddj.2	+	3	461	c.402_splice	c.e3-1	p.G134_splice	CXorf22_uc010ngv.2_Splice_Site	NM_152632	NP_689845			hypothetical protein LOC170063											large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35966531	35966531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35966531C>A	uc004ddj.2	+	4	677	c.618C>A	c.(616-618)TTC>TTA	p.F206L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	206										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LANCL3	347404	broad.mit.edu	37	X	37431373	37431373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37431373C>T	uc011mkd.1	+	1	552	c.250C>T	c.(250-252)CTT>TTT	p.L84F	LANCL3_uc004ddp.1_Missense_Mutation_p.L84F	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	84							catalytic activity				0																		---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37658288	37658288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37658288G>A	uc004ddr.2	+	7	816	c.755G>A	c.(754-756)GGA>GAA	p.G252E	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	252	Extracellular (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CXorf27	25763	broad.mit.edu	37	X	37850184	37850184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37850184T>C	uc004ddt.3	+	1	115	c.92T>C	c.(91-93)TTC>TCC	p.F31S		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	31							DNA binding			central_nervous_system(1)	1																		---	---	---	---
OTC	5009	broad.mit.edu	37	X	38240679	38240679	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38240679C>T	uc004def.3	+	4	597	c.383C>T	c.(382-384)GCC>GTC	p.A128V		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39931992	39931992	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:39931992A>G	uc004den.3	-	4	2899	c.2607T>C	c.(2605-2607)TAT>TAC	p.Y869Y	BCOR_uc004dep.3_Silent_p.Y869Y|BCOR_uc004deo.3_Silent_p.Y869Y|BCOR_uc004dem.3_Silent_p.Y869Y|BCOR_uc004deq.3_Silent_p.Y869Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	869					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40448348	40448348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40448348A>G	uc004det.2	+	2	250	c.148A>G	c.(148-150)ATG>GTG	p.M50V	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Intron|ATP6AP2_uc011mkm.1_Missense_Mutation_p.M50V|ATP6AP2_uc011mkn.1_Missense_Mutation_p.M50V	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	50	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40456806	40456806	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40456806T>C	uc004det.2	+	5	526	c.424T>C	c.(424-426)TCA>CCA	p.S142P	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.S66P|ATP6AP2_uc011mkm.1_Missense_Mutation_p.S110P|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_Missense_Mutation_p.S7P	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	142	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
CXorf38	159013	broad.mit.edu	37	X	40496409	40496409	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40496409C>A	uc004dew.2	-	4	477	c.472_splice	c.e4-1	p.V158_splice	CXorf38_uc011mko.1_Splice_Site_p.V73_splice|CXorf38_uc004dev.1_Splice_Site_p.V39_splice|CXorf38_uc010nhd.2_Splice_Site	NM_144970	NP_659407			hypothetical protein LOC159013											ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40571544	40571544	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40571544A>G	uc004dex.3	-	7	923	c.783T>C	c.(781-783)GAT>GAC	p.D261D	MED14_uc010nhe.1_Silent_p.D145D	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	261	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41205775	41205775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41205775G>A	uc004dfe.2	+	14	2370	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	DDX3X_uc004dff.2_Silent_p.L505L|DDX3X_uc011mkq.1_Silent_p.L489L|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	505	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6															HNSCC(61;0.18)			---	---	---	---
GPR82	27197	broad.mit.edu	37	X	41586602	41586602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41586602T>C	uc004dfs.1	+	3	563	c.323T>C	c.(322-324)TTA>TCA	p.L108S	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.L108S|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAOB	4129	broad.mit.edu	37	X	43662605	43662605	+	Missense_Mutation	SNP	G	T	T	rs149395667	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43662605G>T	uc004dfz.3	-	4	502	c.326C>A	c.(325-327)CCA>CAA	p.P109Q	MAOB_uc011mkx.1_Missense_Mutation_p.P93Q|MAOB_uc011mky.1_Missense_Mutation_p.P93Q	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	109	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)													---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44918361	44918361	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44918361T>C	uc004dge.3	+						KDM6A_uc010nhk.2_Intron|KDM6A_uc011mkz.1_Intron|KDM6A_uc011mla.1_Intron|KDM6A_uc011mlb.1_Intron|KDM6A_uc011mlc.1_Intron|KDM6A_uc011mld.1_Intron	NM_021140	NP_066963			ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44928862	44928862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44928862T>C	uc004dge.3	+	17	2337	c.1962T>C	c.(1960-1962)CCT>CCC	p.P654P	KDM6A_uc010nhk.2_Silent_p.P620P|KDM6A_uc011mkz.1_Silent_p.P706P|KDM6A_uc011mla.1_Silent_p.P609P|KDM6A_uc011mlb.1_Silent_p.P661P|KDM6A_uc011mlc.1_Silent_p.P358P|KDM6A_uc011mld.1_Silent_p.P293P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	654					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
MIR222	407007	broad.mit.edu	37	X	45606494	45606494	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:45606494T>C	hsa-mir-222|MI0000299	-			c.37T>C			uc011mle.1_5'Flank|MIR221_hsa-mir-221|MI0000298_5'Flank|uc011mlf.1_RNA																	0																		---	---	---	---
ZNF673	55634	broad.mit.edu	37	X	46322301	46322301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46322301T>C	uc004dgn.3	+	4	433	c.134T>C	c.(133-135)GTG>GCG	p.V45A	ZNF673_uc004dgp.3_Missense_Mutation_p.V45A|ZNF673_uc010nhl.2_Missense_Mutation_p.V45A|ZNF673_uc004dgm.3_Missense_Mutation_p.V45A	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	zinc finger family member 673 isoform 1	45	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47045526	47045526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47045526A>G	uc004dhf.2	+	22	2872	c.2493A>G	c.(2491-2493)CCA>CCG	p.P831P	RBM10_uc004dhg.2_Silent_p.P753P|RBM10_uc004dhh.2_Silent_p.P830P|RBM10_uc010nhq.2_Silent_p.P754P|RBM10_uc004dhi.2_Silent_p.P896P	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	831					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47230065	47230065	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47230065A>G	uc004dhr.1	+	1						NM_003446	NP_003437			zinc finger protein 157						negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47269706	47269706	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47269706A>T	uc004dhr.1	+	2	173	c.104A>T	c.(103-105)GAT>GTT	p.D35V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47271938	47271938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47271938C>T	uc004dhr.1	+	4	535	c.466C>T	c.(466-468)CCC>TCC	p.P156S		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	156					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47272743	47272743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47272743G>A	uc004dhr.1	+	4	1340	c.1271G>A	c.(1270-1272)AGT>AAT	p.S424N		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	424	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47307610	47307610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47307610T>C	uc004dhs.3	-	4	1752	c.1685A>G	c.(1684-1686)GAA>GGA	p.E562G	ZNF41_uc004dhu.3_Missense_Mutation_p.E554G|ZNF41_uc004dht.3_Missense_Mutation_p.E434G|ZNF41_uc004dhv.3_Missense_Mutation_p.E530G|ZNF41_uc004dhw.3_Missense_Mutation_p.E522G|ZNF41_uc004dhy.3_Missense_Mutation_p.E520G|ZNF41_uc004dhx.3_Missense_Mutation_p.E520G|ZNF41_uc011mlm.1_Missense_Mutation_p.E434G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)																---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426532	47426532	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47426532T>C	uc011mlq.1	+	9	1006	c.873_splice	c.e9+2	p.V291_splice	ARAF_uc011mln.1_Splice_Site|ARAF_uc011mlo.1_Splice_Site_p.V157_splice|ARAF_uc011mlp.1_Splice_Site_p.V291_splice|ARAF_uc004dic.1_Splice_Site_p.V72_splice	NM_001654	NP_001645			v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47478771	47478771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47478771G>A	uc004die.2	-	1	486	c.357C>T	c.(355-357)ATC>ATT	p.I119I	SYN1_uc004did.2_Silent_p.I119I	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	119	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	47663670	47663670	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47663670C>T								LOC100133957 (143894 upstream) : ZNF81 (32631 downstream)																																			---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48339902	48339902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48339902G>A	uc004djo.1	+	8	880	c.557G>A	c.(556-558)CGG>CAG	p.R186Q	FTSJ1_uc004djl.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djm.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djn.1_Missense_Mutation_p.R186Q|FTSJ1_uc004djp.1_Missense_Mutation_p.R186Q|FTSJ1_uc011mlw.1_Missense_Mutation_p.R49Q	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	186					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48340054	48340054	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48340054C>T	uc004djo.1	+	9	929	c.606C>T	c.(604-606)CCC>CCT	p.P202P	FTSJ1_uc004djl.2_Silent_p.P202P|FTSJ1_uc004djm.2_Silent_p.P202P|FTSJ1_uc004djn.1_Silent_p.P202P|FTSJ1_uc004djp.1_Silent_p.P202P|FTSJ1_uc011mlw.1_Silent_p.P65P	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	202					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48371053	48371053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48371053G>A	uc010nie.1	+	6	790	c.632G>A	c.(631-633)GGC>GAC	p.G211D	PORCN_uc004djr.1_Missense_Mutation_p.G211D|PORCN_uc004djs.1_Missense_Mutation_p.G211D|PORCN_uc004djt.1_Missense_Mutation_p.G140D|PORCN_uc011mlx.1_Missense_Mutation_p.G140D|PORCN_uc004dju.1_Missense_Mutation_p.G80D|PORCN_uc004djv.1_Missense_Mutation_p.G211D|PORCN_uc004djw.1_Missense_Mutation_p.G211D	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	211	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386694	48386694	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48386694A>G	uc004djx.3	+	5	747	c.542A>G	c.(541-543)CAC>CGC	p.H181R	EBP_uc004djy.3_Missense_Mutation_p.H181R|EBP_uc004djz.2_Missense_Mutation_p.H181R	NM_006579	NP_006570	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	181					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			ovary(1)	1																		---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418075	48418075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48418075G>A	uc004dka.1	+	6	890	c.779G>A	c.(778-780)CGC>CAC	p.R260H	TBC1D25_uc011mly.1_Missense_Mutation_p.R202H|TBC1D25_uc004dkb.1_Missense_Mutation_p.R6H|TBC1D25_uc011mlz.1_Missense_Mutation_p.R6H|TBC1D25_uc011mma.1_Missense_Mutation_p.R6H|TBC1D25_uc004dkc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmb.1_Missense_Mutation_p.R264H|TBC1D25_uc011mmc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmd.1_Missense_Mutation_p.R6H	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	260	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48457143	48457143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48457143G>A	uc004dkh.1	+	3	227	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.R27Q|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	27						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48458825	48458825	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48458825G>A	uc004dkh.1	+	6	789	c.642G>A	c.(640-642)CGG>CGA	p.R214R	WDR13_uc010nif.1_Silent_p.R92R|WDR13_uc004dki.1_Silent_p.R122R|WDR13_uc004dkj.1_Silent_p.R214R|WDR13_uc004dkk.1_Silent_p.R122R|WDR13_uc004dkl.3_Silent_p.R122R|WDR13_uc011mme.1_Silent_p.R92R	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	214						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48559089	48559089	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48559089T>A	uc004dkn.2	+	3	818	c.773T>A	c.(772-774)GTC>GAC	p.V258D	SUV39H1_uc011mmf.1_Missense_Mutation_p.V269D|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	258	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0																		---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48826003	48826003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48837853	48837853	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48837853A>G	uc004dly.1	-	20	1840	c.1805T>C	c.(1804-1806)ATC>ACC	p.I602T	GRIPAP1_uc004dlz.2_Missense_Mutation_p.I492T|GRIPAP1_uc004dma.2_Missense_Mutation_p.I523T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	602	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48839424	48839424	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48839424C>A	uc004dly.1	-	17	1601	c.1566G>T	c.(1564-1566)AAG>AAT	p.K522N	GRIPAP1_uc004dlz.2_Missense_Mutation_p.K412N|GRIPAP1_uc004dma.2_Missense_Mutation_p.K469N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	522	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48970832	48970832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48970832C>T	uc004dmr.2	-	10	1262	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	419	KOW 2.					nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48972254	48972254	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48972254G>A	uc004dmr.2	-	8	1138	c.1131C>T	c.(1129-1131)TAC>TAT	p.Y377Y		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	377						nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
MAGIX	79917	broad.mit.edu	37	X	49021524	49021524	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49021524C>T	uc010nin.1	+						MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Intron|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135			MAGI family member, X-linked isoform a												0																		---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49104239	49104239	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49104239G>A	uc004dnd.1	+						CCDC22_uc004dnc.1_Intron	NM_014008	NP_054727			coiled-coil domain containing 22											central_nervous_system(1)	1																		---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49127054	49127054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49127054A>G	uc004dnh.1	+	1	738	c.722A>G	c.(721-723)GAC>GGC	p.D241G	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	241	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161405	49161405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49161405A>T	uc010nir.1	+	2	183	c.67A>T	c.(67-69)ATT>TTT	p.I23F		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	G antigen 10	23											0	Ovarian(276;0.236)																	---	---	---	---
GAGE12J	729396	broad.mit.edu	37	X	49179707	49179707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49179707C>T	uc010nit.2	+	2	151	c.35C>T	c.(34-36)CCT>CTT	p.P12L	GAGE12J_uc004dnl.3_Missense_Mutation_p.P12L|GAGE10_uc010nis.2_Intron|GAGE12J_uc004dnk.3_Missense_Mutation_p.P12L	NM_001098406	NP_001091876	A6NER3	GG12J_HUMAN	G antigen 12J	12											0	Ovarian(276;0.236)																	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49855016	49855016	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49855016C>A	uc004dos.1	+	10	2026	c.1778C>A	c.(1777-1779)CCT>CAT	p.P593H	CLCN5_uc004dor.1_Missense_Mutation_p.P663H|CLCN5_uc004doq.1_Missense_Mutation_p.P663H|CLCN5_uc004dot.1_Missense_Mutation_p.P593H	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	593	CBS 1.|Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958148	49958148	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958148C>T	uc004dow.1	-	5	1340	c.1216G>A	c.(1216-1218)GCT>ACT	p.A406T	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.A228T|AKAP4_uc004dou.1_Missense_Mutation_p.A397T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	406					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958224	49958224	+	Silent	SNP	G	A	A	rs140947270		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958224G>A	uc004dow.1	-	5	1264	c.1140C>T	c.(1138-1140)TCC>TCT	p.S380S	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S202S|AKAP4_uc004dou.1_Silent_p.S371S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50213510	50213510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50213510C>T	uc010njr.1	-	1	228	c.168G>A	c.(166-168)GAG>GAA	p.E56E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---
NUDT10	170685	broad.mit.edu	37	X	51075982	51075982	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51075982G>A	uc004dph.2	+	2	385	c.165G>A	c.(163-165)GAG>GAA	p.E55E	NUDT10_uc004dpi.3_Silent_p.E55E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	55	Nudix box.|Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150240	51150240	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150240G>T	uc004dpj.2	+	1	474	c.372G>T	c.(370-372)GGG>GGT	p.G124G		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150515	51150515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150515G>A	uc004dpj.2	+	1	749	c.647G>A	c.(646-648)CGC>CAC	p.R216H		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150736	51150736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150736C>T	uc004dpj.2	+	1	970	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51637894	51637894	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51637894C>T	uc004dpm.2	+						MAGED1_uc004dpn.2_Intron|MAGED1_uc004dpo.2_Intron|MAGED1_uc011mnx.1_Intron	NM_001005332	NP_001005332			melanoma antigen family D, 1 isoform b						apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51639598	51639598	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51639598A>G	uc004dpm.2	+	4	942	c.847A>G	c.(847-849)ACC>GCC	p.T283A	MAGED1_uc004dpn.2_Missense_Mutation_p.T339A|MAGED1_uc004dpo.2_Missense_Mutation_p.T283A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	283	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
XAGE5	170627	broad.mit.edu	37	X	52847243	52847243	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52847243G>T	uc004drd.1	+	5						NM_130775	NP_570131			X antigen family, member 5											ovary(1)	1																		---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53244983	53244983	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53244983G>A	uc004drz.2	-	7	1490	c.957C>T	c.(955-957)GCC>GCT	p.A319A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A252A|KDM5C_uc004dsa.2_Silent_p.A318A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53247567	53247567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53247567A>G	uc004drz.2	-	3	775	c.242T>C	c.(241-243)GTG>GCG	p.V81A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.V81A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	81	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53268436	53268436	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53268436T>C	uc004dsd.2	-	11	3257	c.3056A>G	c.(3055-3057)TAC>TGC	p.Y1019C	IQSEC2_uc004dsc.2_Missense_Mutation_p.Y814C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1009	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53279871	53279871	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53279871A>G	uc004dsd.2	-	5	2088	c.1887T>C	c.(1885-1887)CAT>CAC	p.H629H	IQSEC2_uc004dsc.2_Silent_p.H424H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	619	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53280312	53280312	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53280312G>A	uc004dsd.2	-	5	1647	c.1446C>T	c.(1444-1446)CAC>CAT	p.H482H	IQSEC2_uc004dsc.2_Silent_p.H277H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	472					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53440054	53440054	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53440054A>T	uc004dsg.2	-	5	719	c.650T>A	c.(649-651)GTA>GAA	p.V217E	SMC1A_uc011moe.1_Missense_Mutation_p.V195E|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Missense_Mutation_p.V83E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	217	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53449435	53449435	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53449435T>C	uc004dsg.2	-						SMC1A_uc011moe.1_Intron|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Intron|RIBC1_uc004dsj.1_5'Flank|RIBC1_uc011mog.1_5'Flank|RIBC1_uc004dsk.2_5'Flank	NM_006306	NP_006297			structural maintenance of chromosomes 1A						cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53607904	53607904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53607904T>C	uc004dsp.2	-	43	6005	c.5603A>G	c.(5602-5604)AAC>AGC	p.N1868S	HUWE1_uc004dsn.2_Missense_Mutation_p.N693S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1868					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53654765	53654765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53654765A>G	uc004dsp.2	-	16	1710	c.1308T>C	c.(1306-1308)GTT>GTC	p.V436V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	436					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54019239	54019239	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54019239C>T	uc004dsu.2	-	14	1841	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	PHF8_uc004dst.2_Missense_Mutation_p.D554N|PHF8_uc004dsv.2_Missense_Mutation_p.D420N|PHF8_uc004dsw.2_Missense_Mutation_p.D453N|PHF8_uc004dsx.2_Missense_Mutation_p.D318N|PHF8_uc004dsy.2_Missense_Mutation_p.D554N	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	590					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54037577	54037577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54037577T>C	uc004dsu.2	-	8	1105	c.1032A>G	c.(1030-1032)GGA>GGG	p.G344G	PHF8_uc004dst.2_Silent_p.G308G|PHF8_uc004dsv.2_Silent_p.G174G|PHF8_uc004dsw.2_Silent_p.G308G|PHF8_uc004dsx.2_Silent_p.G72G|PHF8_uc004dsy.2_Silent_p.G308G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	344	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54263865	54263865	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54263865A>C	uc004dtd.1	-	20	4432	c.3993T>G	c.(3991-3993)TCT>TCG	p.S1331S	WNK3_uc004dtc.1_Silent_p.S1378S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1331					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11																		---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54491892	54491892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54491892T>C	uc004dtg.2	-	8	2362	c.1628A>G	c.(1627-1629)GAT>GGT	p.D543G	FGD1_uc011moi.1_Missense_Mutation_p.D301G	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	543	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54784875	54784875	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54784875C>A	uc004dtj.2	-	8	1662	c.1632G>T	c.(1630-1632)AAG>AAT	p.K544N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	544					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955368	54955368	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955368T>C	uc004dtq.2	+	12	2318	c.2211T>C	c.(2209-2211)GCT>GCC	p.A737A	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A268A|TRO_uc004dtw.2_Silent_p.A340A|TRO_uc004dtx.2_Silent_p.A120A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	737					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955548	54955548	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955548T>C	uc004dtq.2	+	12	2498	c.2391T>C	c.(2389-2391)TGT>TGC	p.C797C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.C328C|TRO_uc004dtw.2_Silent_p.C400C|TRO_uc004dtx.2_Silent_p.C180C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	797	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
KLF8	11279	broad.mit.edu	37	X	56276693	56276693	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56276693G>A	uc004dur.2	+	2	983	c.37G>A	c.(37-39)GTC>ATC	p.V13I	KLF8_uc010nkg.2_Intron|KLF8_uc011mop.1_Missense_Mutation_p.V13I|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57367813	57367813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57367813G>A	uc004dvc.2	+	5	881	c.732G>A	c.(730-732)AAG>AAA	p.K244K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	244						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3															HNSCC(52;0.14)			---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935777	57935777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57935777A>T	uc004dve.2	-	1	1291	c.1078T>A	c.(1078-1080)TTC>ATC	p.F360I		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	360	C2H2-type 4.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570336	62570336	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62570336C>A	uc004dvf.2	-	1	883	c.363G>T	c.(361-363)AAG>AAT	p.K121N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	121					gamete generation					ovary(1)|lung(1)	2																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62893983	62893983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62893983G>A	uc004dvl.2	-	6	1698	c.859C>T	c.(859-861)CGC>TGC	p.R287C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R176C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R149C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R266C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R266C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R234C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R294C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	287	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62944564	62944564	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62944564C>G	uc004dvl.2	-	2	876	c.37G>C	c.(37-39)GCT>CCT	p.A13P	ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.A20P	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	13	SH3.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445207	63445207	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445207C>T	uc011mou.1	-	10	1517	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	ASB12_uc004dvp.1_Silent_p.T99T|ASB12_uc004dvq.1_Silent_p.T108T|ASB12_uc004dvr.1_Silent_p.T108T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445479	63445479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445479T>C	uc011mou.1	-	10	1245	c.1177A>G	c.(1177-1179)ATC>GTC	p.I393V	ASB12_uc004dvp.1_Missense_Mutation_p.I9V|ASB12_uc004dvq.1_Missense_Mutation_p.I18V|ASB12_uc004dvr.1_Missense_Mutation_p.I18V	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722378	64722378	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64722378C>T	uc010nko.2	+	5	1776	c.1767C>T	c.(1765-1767)AAC>AAT	p.N589N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	589							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3																		---	---	---	---
MSN	4478	broad.mit.edu	37	X	64951829	64951829	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64951829C>A	uc004dwf.2	+	6	879	c.681C>A	c.(679-681)ATC>ATA	p.I227I		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	227	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
MSN	4478	broad.mit.edu	37	X	64957057	64957057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64957057C>T	uc004dwf.2	+	10	1306	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	370					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67502906	67502906	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67502906T>A	uc004dww.3	-	4	598	c.304A>T	c.(304-306)ATG>TTG	p.M102L	OPHN1_uc011mpg.1_Missense_Mutation_p.M102L|OPHN1_uc004dwx.2_Missense_Mutation_p.M102L	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	102					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67751834	67751834	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67751834C>A	uc004dwy.2	+	7	727	c.704C>A	c.(703-705)CCT>CAT	p.P235H	YIPF6_uc011mph.1_Missense_Mutation_p.P192H|uc004dwz.2_5'Flank	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	235						endoplasmic reticulum|integral to membrane					0																		---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67941915	67941915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67941915G>A	uc004dxa.2	+	10	2618	c.2246G>A	c.(2245-2247)GGC>GAC	p.G749D	STARD8_uc004dxb.2_Missense_Mutation_p.G829D|STARD8_uc004dxc.3_Missense_Mutation_p.G749D	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	749	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060180	68060180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060180G>A	uc004dxd.3	+	5	1504	c.724G>A	c.(724-726)GCG>ACG	p.A242T	EFNB1_uc004dxe.2_Missense_Mutation_p.A242T	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	242	Helical; (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060449	68060449	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060449C>T	uc004dxd.3	+	5	1773	c.993C>T	c.(991-993)GTC>GTT	p.V331V	EFNB1_uc004dxe.2_Silent_p.V331V	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	331	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68381999	68381999	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68381999G>T	uc004dxh.2	-	2	1369	c.1083C>A	c.(1081-1083)TGC>TGA	p.C361*	PJA1_uc011mpi.1_Nonsense_Mutation_p.C79*|PJA1_uc004dxg.2_Nonsense_Mutation_p.C173*|PJA1_uc004dxi.2_Nonsense_Mutation_p.C306*	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	361							zinc ion binding				0																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639532	69639532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639532C>T	uc004dyg.2	+	30	3521	c.3394C>T	c.(3394-3396)CGG>TGG	p.R1132W	KIF4A_uc010nkw.2_Missense_Mutation_p.R1132W	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1132	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639929	69639929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639929C>T	uc004dyg.2	+	31	3640	c.3513C>T	c.(3511-3513)TGC>TGT	p.C1171C	KIF4A_uc010nkw.2_Silent_p.C1171C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1171	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69647035	69647035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69647035G>A	uc004dyh.2	+	9	1002	c.751G>A	c.(751-753)GGA>AGA	p.G251R	GDPD2_uc010nkx.1_Missense_Mutation_p.G251R|GDPD2_uc010nky.1_Missense_Mutation_p.G37R|GDPD2_uc011mpk.1_Missense_Mutation_p.G251R|GDPD2_uc011mpl.1_Missense_Mutation_p.G172R|GDPD2_uc011mpm.1_Missense_Mutation_p.G172R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	251	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69649837	69649837	+	Missense_Mutation	SNP	C	T	T	rs35552527	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69649837C>T	uc004dyh.2	+	12	1482	c.1231C>T	c.(1231-1233)CGT>TGT	p.R411C	GDPD2_uc010nky.1_Silent_p.D263D|GDPD2_uc011mpk.1_Missense_Mutation_p.R411C|GDPD2_uc011mpl.1_Missense_Mutation_p.R332C|GDPD2_uc011mpm.1_Missense_Mutation_p.R332C	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	411	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69652204	69652204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69652204A>G	uc004dyh.2	+	13	1606	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.K503R|GDPD2_uc011mpl.1_Missense_Mutation_p.K373R|GDPD2_uc011mpm.1_Missense_Mutation_p.K373R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	452	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70148105	70148105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70148105A>G	uc004dyn.2	-	5	868	c.710T>C	c.(709-711)TTG>TCG	p.L237S	SLC7A3_uc004dyo.2_Missense_Mutation_p.L237S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	237	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
CXorf65	158830	broad.mit.edu	37	X	70326212	70326212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70326212A>G	uc011mpo.1	-	2	104	c.90T>C	c.(88-90)AGT>AGC	p.S30S	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	30										central_nervous_system(1)	1																		---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327621	70327621	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70327621C>G	uc004dyw.1	-	8	1089	c.1075G>C	c.(1075-1077)GCC>CCC	p.A359P	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.A88P|IL2RG_uc004dyx.1_Missense_Mutation_p.A169P	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	359	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									Severe_Combined_Immunodeficiency_X-linked				---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389593	70389593	+	Nonsense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70389593C>G	uc004dzb.2	+	7	2437	c.2133C>G	c.(2131-2133)TAC>TAG	p.Y711*	NLGN3_uc004dzc.2_Nonsense_Mutation_p.Y594*|NLGN3_uc011mps.1_Nonsense_Mutation_p.Y691*|NLGN3_uc004dze.2_Nonsense_Mutation_p.Y529*	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	731	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70823666	70823666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70823666A>G	uc004eae.2	+	8	1040	c.539A>G	c.(538-540)GAC>GGC	p.D180G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	180	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70832302	70832302	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70832302T>A	uc004eae.2	+	12	2349	c.1848T>A	c.(1846-1848)TAT>TAA	p.Y616*	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	616						nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836470	70836470	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70836470G>A	uc004eaf.2	-	2	920	c.852C>T	c.(850-852)GGC>GGT	p.G284G	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.G331G	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	284	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349878	71349878	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71349878T>C	uc010nlh.1	-	1	1874	c.1513A>G	c.(1513-1515)AGA>GGA	p.R505G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	505										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71350381	71350381	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71350381T>C	uc010nlh.1	-	1	1371	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	337										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
PIN4	5303	broad.mit.edu	37	X	71416695	71416695	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71416695T>A	uc004eam.2	+	3	288	c.253T>A	c.(253-255)TCT>ACT	p.S85T	PIN4_uc004eao.1_Missense_Mutation_p.S85T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	60	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)																	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425828	71425828	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71425828T>A	uc004eaq.1	-	2	2886	c.2789A>T	c.(2788-2790)GAT>GTT	p.D930V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.D807V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	930					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)																	---	---	---	---
HDAC8	55869	broad.mit.edu	37	X	71787753	71787753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71787753C>T	uc004eau.2	-	4	465	c.423G>A	c.(421-423)TGG>TGA	p.W141*	HDAC8_uc011mqe.1_5'UTR|HDAC8_uc011mqf.1_Intron|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Nonsense_Mutation_p.W12*|HDAC8_uc004eav.2_Nonsense_Mutation_p.W141*|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	141	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)													---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71802336	71802336	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71802336A>G	uc004eax.3	-	31	3711	c.3410T>C	c.(3409-3411)CTG>CCG	p.L1137P	PHKA1_uc004eay.3_Missense_Mutation_p.L1124P|PHKA1_uc011mqi.1_Missense_Mutation_p.L1065P|PHKA1_uc010nll.2_Missense_Mutation_p.L169P	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1137					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)																	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433875	72433875	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72433875G>A	uc004ebi.2	-	1	810	c.454C>T	c.(454-456)CGT>TGT	p.R152C	NAP1L2_uc011mqj.1_Missense_Mutation_p.R10C	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	152					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)																	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73040844	73040844	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73040844T>C	uc004ebn.2	+	1		c.28805T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042647	73042647	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73042647A>G	uc004ebn.2	+	1		c.30608A>G			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044507	73044507	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044507T>C	uc004ebn.2	+	1		c.32468T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044614	73044614	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044614T>A	uc004ebn.2	+	1		c.32575T>A			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73063303	73063303	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73063303A>G	uc004ebm.1	-	1		c.9286T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73065194	73065194	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73065194A>G	uc004ebm.1	-	1		c.7395T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	73095435	73095435	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73095435G>A								XIST (22847 upstream) : NCRNA00183 (68724 downstream)																																			---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812655	73812655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73812655T>C	uc004ebu.2	-	5	785	c.495A>G	c.(493-495)GGA>GGG	p.G165G	RLIM_uc004ebw.2_Silent_p.G165G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	165					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963610	73963610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73963610A>T	uc004eby.2	-	3	1399	c.782T>A	c.(781-783)TTC>TAC	p.F261Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73964288	73964288	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73964288A>G	uc004eby.2	-	3	721	c.104T>C	c.(103-105)ATG>ACG	p.M35T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	35					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
ABCB7	22	broad.mit.edu	37	X	74289248	74289248	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74289248T>C	uc004eca.2	-	11	1432	c.1407A>G	c.(1405-1407)ACA>ACG	p.T469T	ABCB7_uc004ebz.2_Silent_p.T470T|ABCB7_uc011mqn.1_Silent_p.T443T|ABCB7_uc010nls.2_Silent_p.T430T|ABCB7_uc010nlt.2_Silent_p.T429T	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	469					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1																		---	---	---	---
UPRT	139596	broad.mit.edu	37	X	74523346	74523346	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74523346A>T	uc004ecb.1	+	7	1059	c.930A>T	c.(928-930)TAA>TAT	p.*310Y	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_3'UTR|UPRT_uc004ece.1_Nonstop_Mutation_p.*174Y	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	310					nucleoside metabolic process	cytoplasm|nucleus					0																		---	---	---	---
CXorf26	51260	broad.mit.edu	37	X	75395397	75395397	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75395397T>C	uc004ecl.1	+	4	449	c.246T>C	c.(244-246)CTT>CTC	p.L82L		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	82											0																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649862	75649862	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75649862G>A	uc004ecm.1	+	1	1746	c.1539G>A	c.(1537-1539)CGG>CGA	p.R513R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	513	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650756	75650756	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75650756C>A	uc004ecm.1	+	1	2640	c.2433C>A	c.(2431-2433)TCC>TCA	p.S811S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	811	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224365	77224365	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77224365T>C	uc004ecy.1	-	1					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062			bisphosphoglycerate mutase 4						glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77224638G>A	uc004ecy.1	-	1	498	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77227165	77227165	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77227165T>C	uc004ecx.3	+	2	187	c.27T>C	c.(25-27)TCT>TCC	p.S9S	ATP7A_uc004ecw.2_Silent_p.S9S|PGAM4_uc004ecy.1_5'Flank	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	9	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254041	77254041	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77254041A>T	uc004ecx.3	+	5	1563	c.1403A>T	c.(1402-1404)AAT>ATT	p.N468I	ATP7A_uc004ecw.2_Missense_Mutation_p.N468I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77284945	77284945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77284945A>G	uc004ecx.3	+							NM_000052	NP_000043			ATPase, Cu++ transporting, alpha polypeptide						ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77369604	77369604	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77369604C>A	uc004ecz.3	+	4	536	c.364C>A	c.(364-366)CTC>ATC	p.L122I	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.L94I	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	122					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TAF9B	51616	broad.mit.edu	37	X	77393267	77393267	+	Silent	SNP	C	T	T	rs145287115		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77393267C>T	uc004eda.2	-	4	455	c.384G>A	c.(382-384)AGG>AGA	p.R128R		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	128					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0																		---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528568	77528568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77528568A>G	uc004edb.2	-	3	1076	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CYSLTR1_uc010nma.2_Missense_Mutation_p.S226P|CYSLTR1_uc010nmb.2_Missense_Mutation_p.S226P	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)													---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216180	78216180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78216180G>T	uc004ede.2	+	4	532	c.163G>T	c.(163-165)GCC>TCC	p.A55S	P2RY10_uc004edf.2_Missense_Mutation_p.A55S	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5																		---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78616678	78616678	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78616678T>C	uc004edh.2	-						ITM2A_uc011mqr.1_Intron	NM_004867	NP_004858			integral membrane protein 2A							integral to membrane	protein binding			lung(2)	2																		---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79278708	79278708	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79278708G>T	uc010nmg.1	+	3	459	c.325G>T	c.(325-327)GGG>TGG	p.G109W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	109	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79948491	79948491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79948491G>A	uc004edt.2	-	28	3474	c.3211C>T	c.(3211-3213)CAG>TAG	p.Q1071*	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edp.2_Nonsense_Mutation_p.Q900*|BRWD3_uc004edq.2_Nonsense_Mutation_p.Q667*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.Q667*|BRWD3_uc004edr.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eds.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edu.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004edv.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edw.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edx.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edy.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edz.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eea.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.Q667*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1071										ovary(4)	4																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79978164	79978164	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79978164A>T	uc004edt.2	-	17	2036	c.1773T>A	c.(1771-1773)GAT>GAA	p.D591E	BRWD3_uc004edo.2_Missense_Mutation_p.D187E|BRWD3_uc004edp.2_Missense_Mutation_p.D420E|BRWD3_uc004edq.2_Missense_Mutation_p.D187E|BRWD3_uc010nmj.1_Missense_Mutation_p.D187E|BRWD3_uc004edr.2_Missense_Mutation_p.D261E|BRWD3_uc004eds.2_Missense_Mutation_p.D187E|BRWD3_uc004edu.2_Missense_Mutation_p.D261E|BRWD3_uc004edv.2_Missense_Mutation_p.D187E|BRWD3_uc004edw.2_Missense_Mutation_p.D187E|BRWD3_uc004edx.2_Missense_Mutation_p.D187E|BRWD3_uc004edy.2_Missense_Mutation_p.D187E|BRWD3_uc004edz.2_Missense_Mutation_p.D261E|BRWD3_uc004eea.2_Missense_Mutation_p.D261E|BRWD3_uc004eeb.2_Missense_Mutation_p.D187E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	591										ovary(4)	4																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83352817	83352817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83352817A>G	uc004eej.1	-	19	1893	c.1816T>C	c.(1816-1818)TGG>CGG	p.W606R	RPS6KA6_uc011mqt.1_Missense_Mutation_p.W606R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W503R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	606	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83359656	83359656	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83359656C>A	uc004eej.1	-	17	1542	c.1465G>T	c.(1465-1467)GAT>TAT	p.D489Y	RPS6KA6_uc011mqt.1_Missense_Mutation_p.D489Y|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D386Y	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	489	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502578	84502578	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84502578T>C	uc004eeo.2	+	3					ZNF711_uc004eep.2_5'UTR|ZNF711_uc004eeq.2_5'UTR	NM_021998	NP_068838			zinc finger protein 711						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928184	92928184	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92928184G>A	uc004efq.2	-	1	425	c.120C>T	c.(118-120)AGC>AGT	p.S40S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	40	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551344	99551344	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99551344G>A	uc010nmz.2	-	6	5054	c.3378C>T	c.(3376-3378)AGC>AGT	p.S1126S	PCDH19_uc004efw.3_Silent_p.S1078S|PCDH19_uc004efx.3_Silent_p.S1079S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99661923	99661923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99661923T>C	uc010nmz.2	-	1	3349	c.1673A>G	c.(1672-1674)GAC>GGC	p.D558G	PCDH19_uc004efw.3_Missense_Mutation_p.D558G|PCDH19_uc004efx.3_Missense_Mutation_p.D558G	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	558	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99942073	99942073	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99942073C>T	uc004egd.3	-	13	1531	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	SYTL4_uc010nnb.2_Missense_Mutation_p.R64H|SYTL4_uc010nnc.2_Missense_Mutation_p.R392H|SYTL4_uc004ege.3_Missense_Mutation_p.R392H|SYTL4_uc004egf.3_Missense_Mutation_p.R392H|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	392	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100104913	100104913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100104913C>T	uc004egj.2	-	10	1350	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	NOX1_uc004egl.3_Missense_Mutation_p.D382N|NOX1_uc010nne.2_Missense_Mutation_p.D345N	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	382	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100129075	100129075	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100129075A>T	uc004egj.2	-						uc010nnf.2_Intron|NOX1_uc004egl.3_Intron|NOX1_uc010nne.2_Intron	NM_007052	NP_008983			NADPH oxidase 1 isoform long						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100169342	100169342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100169342C>T	uc004egn.2	-	3	1940	c.1335G>A	c.(1333-1335)AGG>AGA	p.R445R	XKRX_uc011mre.1_Silent_p.R241R	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	445						integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100177865	100177865	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100177865A>T	uc004egn.2	-	2	1126	c.521T>A	c.(520-522)ATC>AAC	p.I174N	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	174	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100292924	100292924	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100292924G>A	uc004egq.2	-	4	719	c.420C>T	c.(418-420)CTC>CTT	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100334082	100334082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100334082A>G	uc004egw.2	+	1	247	c.91A>G	c.(91-93)AGG>GGG	p.R31G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	31						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349662	100349662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349662C>T	uc004egw.2	+	2	377	c.221C>T	c.(220-222)GCC>GTC	p.A74V		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	74	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349842	100349842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349842A>G	uc004egw.2	+	2	557	c.401A>G	c.(400-402)AAG>AGG	p.K134R		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	134						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100381795	100381795	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100381795A>T	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100515554	100515554	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100515554G>A	uc004egz.2	+	24	3187	c.2818G>A	c.(2818-2820)GCC>ACC	p.A940T	DRP2_uc011mrh.1_Missense_Mutation_p.A862T	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	940					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---
BTK	695	broad.mit.edu	37	X	100608210	100608210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100608210T>C	uc004ehg.2	-	18	2073	c.1880A>G	c.(1879-1881)TAT>TGT	p.Y627C	BTK_uc004ehf.2_Missense_Mutation_p.Y127C|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.Y103C|BTK_uc010nnm.2_Intron|BTK_uc010nnn.2_Missense_Mutation_p.Y451C|BTK_uc010nno.2_Missense_Mutation_p.Y661C	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	627	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6														Agammaglobulinemia_X-linked				---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100808785	100808785	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100808785T>C	uc004ehv.2	+	4	1243	c.872T>C	c.(871-873)GTG>GCG	p.V291A	ARMCX1_uc004ehw.2_Missense_Mutation_p.V291A	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	291						integral to membrane	binding			ovary(3)|pancreas(1)	4																		---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101152909	101152909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101152909G>A	uc011mrl.1	-	5	748	c.437C>T	c.(436-438)GCT>GTT	p.A146V	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
TCEAL2	140597	broad.mit.edu	37	X	101382346	101382346	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101382346A>T	uc004eip.2	+	3	763	c.544A>T	c.(544-546)AGA>TGA	p.R182*		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102318123	102318123	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102318123A>T	uc004ejt.1	-	3	320	c.80T>A	c.(79-81)GTT>GAT	p.V27D		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	27					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
NXF3	56000	broad.mit.edu	37	X	102337215	102337215	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102337215G>A	uc004eju.2	-	9	929	c.858C>T	c.(856-858)TGC>TGT	p.C286C	NXF3_uc010noi.1_Silent_p.C136C|NXF3_uc011mrw.1_Silent_p.C286C|NXF3_uc011mrx.1_Silent_p.C197C	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	286						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
TCEAL4	79921	broad.mit.edu	37	X	102842091	102842091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102842091C>T	uc004ekl.2	+	3	781	c.488C>T	c.(487-489)GCT>GTT	p.A163V	TCEAL4_uc004ekn.2_Missense_Mutation_p.A163V|TCEAL4_uc004ekm.2_Missense_Mutation_p.A163V|TCEAL4_uc004eko.2_Missense_Mutation_p.A163V	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
RAB9B	51209	broad.mit.edu	37	X	103080451	103080451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103080451G>A	uc004ell.1	-	3	549	c.264C>T	c.(262-264)AGC>AGT	p.S88S	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	88					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3																		---	---	---	---
ESX1	80712	broad.mit.edu	37	X	103499107	103499107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103499107G>A	uc004ely.2	-	2	292	c.234C>T	c.(232-234)GGC>GGT	p.G78G		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	78					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279292	105279292	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105279292G>A	uc004eme.1	-	2	723	c.707C>T	c.(706-708)CCC>CTC	p.P236L	SERPINA7_uc010npd.2_Missense_Mutation_p.P236L|SERPINA7_uc010npe.1_Missense_Mutation_p.P236L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105875884	105875884	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105875884A>G	uc004emi.3	+	4	1160	c.1009A>G	c.(1009-1011)ACA>GCA	p.T337A	CXorf57_uc004emj.3_Missense_Mutation_p.T337A|CXorf57_uc004emh.2_Missense_Mutation_p.T337A	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	337										ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105879884	105879884	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105879884A>G	uc004emi.3	+						CXorf57_uc004emj.3_Intron|CXorf57_uc004emh.2_Intron	NM_018015	NP_060485			hypothetical protein LOC55086											ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106028294	106028294	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106028294G>A	uc004eml.2	+	3	983	c.733_splice	c.e3-1	p.R245_splice	RNF128_uc004emk.2_Splice_Site_p.R219_splice	NM_194463	NP_919445			ring finger protein 128 isoform 1							endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106185904	106185904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106185904T>C	uc004emu.3	-	15	2460	c.2217A>G	c.(2215-2217)GCA>GCG	p.A739A	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.A739A|MORC4_uc004emw.3_Silent_p.A487A	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	739							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---
RBM41	55285	broad.mit.edu	37	X	106331799	106331799	+	Nonsense_Mutation	SNP	C	T	T	rs149164060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106331799C>T	uc004emz.2	-	5	825	c.794G>A	c.(793-795)TGG>TAG	p.W265*	RBM41_uc004emy.1_Nonsense_Mutation_p.W265*	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	265							nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	106803566	106803566	+	IGR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106803566T>A								CXorf41 (316094 upstream) : PRPS1 (68088 downstream)																																			---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107288361	107288361	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107288361A>T	uc004eno.2	+	1	162	c.1A>T	c.(1-3)ATG>TTG	p.M1L	VSIG1_uc011msk.1_Missense_Mutation_p.M1L	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	1						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107395055	107395055	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107395055A>C	uc004enr.2	+	11	1107	c.984A>C	c.(982-984)AAA>AAC	p.K328N	ATG4A_uc004ent.2_Missense_Mutation_p.K266N|ATG4A_uc004ens.2_Missense_Mutation_p.K244N|ATG4A_uc011msl.1_Missense_Mutation_p.K182N|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.K244N|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	328					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107457431	107457431	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107457431C>A	uc004enw.3	-	6	458	c.355G>T	c.(355-357)GGC>TGC	p.G119C	COL4A6_uc004env.3_Missense_Mutation_p.G118C|COL4A6_uc011msn.1_Missense_Mutation_p.G118C|COL4A6_uc010npk.2_Missense_Mutation_p.G118C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	119	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107866021	107866021	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107866021C>A	uc004enz.1	+	33	3085	c.2883C>A	c.(2881-2883)GGC>GGA	p.G961G	COL4A5_uc011mso.1_Silent_p.G961G|COL4A5_uc004eob.1_Silent_p.G569G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	961	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107935981	107935981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107935981C>T	uc004enz.1	+	49	4734	c.4532C>T	c.(4531-4533)ACG>ATG	p.T1511M	COL4A5_uc011mso.1_Missense_Mutation_p.T1508M|COL4A5_uc011msp.1_Missense_Mutation_p.T187M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1505	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979097	107979097	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107979097C>T	uc004eoc.2	-	1	511	c.478G>A	c.(478-480)GCA>ACA	p.A160T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	160	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108924228	108924228	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108924228G>A	uc004eoi.2	-	7	1282	c.777C>T	c.(775-777)AAC>AAT	p.N259N	ACSL4_uc004eoj.2_Silent_p.N218N|ACSL4_uc004eok.2_Silent_p.N218N|ACSL4_uc010npp.1_Silent_p.N259N	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	259	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)													---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109696605	109696605	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109696605T>C	uc004eor.1	+	3	3006	c.2760T>C	c.(2758-2760)TGT>TGC	p.C920C	RGAG1_uc011msr.1_Silent_p.C920C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	920										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109937471	109937471	+	Missense_Mutation	SNP	C	T	T	rs141240795	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109937471C>T	uc004eou.3	-	8	1047	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CHRDL1_uc004eov.2_Missense_Mutation_p.R227Q|CHRDL1_uc004eow.2_Missense_Mutation_p.R232Q|CHRDL1_uc010nps.2_Missense_Mutation_p.R232Q|CHRDL1_uc004eot.2_Missense_Mutation_p.R153Q|CHRDL1_uc011mss.1_Missense_Mutation_p.R147Q	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110925502	110925502	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110925502A>T	uc011msy.1	+	2	258	c.224A>T	c.(223-225)GAT>GTT	p.D75V	ALG13_uc004epi.1_Missense_Mutation_p.D75V|ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	75					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111019870	111019870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111019870A>G	uc004epl.1	-	11	3512	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	865	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195483	111195483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111195483C>T	uc004epl.1	-	2	1085	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TRPC5_uc004epm.1_Missense_Mutation_p.E56K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	56	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111914414G>A	uc004epq.2	-	2	538	c.205C>T	c.(205-207)CGC>TGC	p.R69C	LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	69						integral to membrane					0																		---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112035138	112035138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:112035138T>C	uc004epr.2	-	6	1848	c.1848A>G	c.(1846-1848)GCA>GCG	p.A616A	AMOT_uc004eps.2_Silent_p.A207A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	616	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114880488	114880488	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114880488G>A	uc004eqd.2	+	12	1749	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	PLS3_uc010nqg.2_Silent_p.L235L|PLS3_uc011mtf.1_Silent_p.L440L|PLS3_uc004eqe.2_Silent_p.L453L|PLS3_uc011mtg.1_Silent_p.L426L|PLS3_uc011mth.1_Silent_p.L408L|PLS3_uc011mti.1_Silent_p.L129L|PLS3_uc011mtj.1_Silent_p.L47L|PLS3_uc011mtk.1_Silent_p.L114L|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	453	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304235	115304235	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115304235T>C	uc004eqh.3	+	3	909	c.702T>C	c.(700-702)ATT>ATC	p.I234I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	234	Helical; Name=5; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3																		---	---	---	---
CXorf61	203413	broad.mit.edu	37	X	115592931	115592931	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115592931A>G	uc004eqj.1	-	2	439	c.319T>C	c.(319-321)TCA>CCA	p.S107P		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	107	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117528054	117528054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117528054C>T	uc004eqn.2	+	5	1288	c.863C>T	c.(862-864)ACC>ATC	p.T288I	WDR44_uc004eqo.2_Missense_Mutation_p.T288I|WDR44_uc011mtr.1_Missense_Mutation_p.T263I|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	288						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117576313	117576313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117576313T>C	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117695459	117695459	+	Silent	SNP	C	T	T	rs112113377	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117695459C>T	uc004eqp.2	+	7	735	c.672C>T	c.(670-672)GAC>GAT	p.D224D	DOCK11_uc004eqq.2_Translation_Start_Site	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	224	PH.				blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117742033	117742033	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117742033A>G	uc004eqp.2	+	25	2745	c.2682_splice	c.e25-2	p.M894_splice	DOCK11_uc004eqq.2_Splice_Site_p.M660_splice	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118123421	118123421	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118123421G>T	uc004eqw.2	+	4	1141	c.1110G>T	c.(1108-1110)AGG>AGT	p.R370S	LONRF3_uc004eqx.2_Missense_Mutation_p.R329S|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R114S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	370					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
SLC25A43	203427	broad.mit.edu	37	X	118586848	118586848	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118586848T>C	uc004erd.2	+	5	1190	c.846T>C	c.(844-846)ATT>ATC	p.I282I	SLC25A43_uc011mtt.1_Missense_Mutation_p.Y225H	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	282	Solcar 3.|Helical; Name=6; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1																		---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118708930	118708930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118708930C>T	uc004erl.2	+	2	287	c.111C>T	c.(109-111)AAC>AAT	p.N37N	UBE2A_uc004erm.2_Silent_p.N37N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	37					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0													Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118723331	118723331	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118723331A>G	uc004erq.2	-	2	2710	c.2057T>C	c.(2056-2058)ATG>ACG	p.M686T	NKRF_uc004err.2_Missense_Mutation_p.M686T	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	686					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118797509	118797509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118797509C>T	uc004erv.2	-	3	542	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.V93M|SEPT6_uc004ert.2_Missense_Mutation_p.V93M|SEPT6_uc004eru.2_Missense_Mutation_p.V93M|SEPT6_uc004erw.2_Missense_Mutation_p.V35M|SEPT6_uc011mtv.1_Missense_Mutation_p.V35M|SEPT6_uc011mtw.1_Missense_Mutation_p.V123M	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	93					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4																		---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118968985	118968985	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118968985A>T	uc004erz.1	-	11	1385	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	UPF3B_uc004esa.1_Silent_p.R423R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	436	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.			R->A: Impairs association with EJC.|R->A: Reduces NMD.|Missing: Abolishes NMD.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3																		---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119005489	119005489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119005489G>A	uc004esb.2	-	1	303	c.88C>T	c.(88-90)CGC>TGC	p.R30C	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	30							nucleic acid binding|zinc ion binding			breast(2)	2																		---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181790	120181790	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120181790G>C	uc004eto.2	+	1	329	c.252G>C	c.(250-252)AAG>AAC	p.K84N		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	84		Substrate (By similarity).			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182575	120182575	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182575A>C	uc004eto.2	+	1	1114	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551552	122551552	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551552A>G	uc004etq.3	+	12	2093	c.1800A>G	c.(1798-1800)CCA>CCG	p.P600P	GRIA3_uc004etr.3_Silent_p.P600P|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.P584P	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	600	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551553	122551553	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551553A>T	uc004etq.3	+	12	2094	c.1801A>T	c.(1801-1803)AAT>TAT	p.N601Y	GRIA3_uc004etr.3_Missense_Mutation_p.N601Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N585Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	601	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122756954	122756954	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122756954A>G	uc004etu.2	-	29	3714	c.3682_splice	c.e29+1	p.D1228_splice	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Intron	NM_001081550	NP_001075019			THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757104	122757104	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122757104T>C	uc004etu.2	-	29	3566	c.3534A>G	c.(3532-3534)TCA>TCG	p.S1178S	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1178					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122830676	122830676	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122830676G>A	uc004etu.2	-	6	394	c.362C>T	c.(361-363)ACA>ATA	p.T121I	THOC2_uc011muh.1_Missense_Mutation_p.T42I|THOC2_uc011mui.1_Missense_Mutation_p.T6I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	121					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123631108	123631108	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123631108T>C	uc004euj.2	-	20	3517	c.3453A>G	c.(3451-3453)ATA>ATG	p.I1151M	ODZ1_uc011muj.1_Missense_Mutation_p.I1150M|ODZ1_uc010nqy.2_Missense_Mutation_p.I1151M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1151	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123663719	123663719	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123663719A>G	uc004euj.2	-	16	2830	c.2766T>C	c.(2764-2766)GAT>GAC	p.D922D	ODZ1_uc011muj.1_Silent_p.D921D|ODZ1_uc010nqy.2_Silent_p.D922D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	922	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	124028174	124028174	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:124028174T>G	uc004euj.2	-	3	570	c.506A>C	c.(505-507)GAC>GCC	p.D169A	ODZ1_uc011muj.1_Missense_Mutation_p.D169A|ODZ1_uc010nqy.2_Missense_Mutation_p.D169A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	169	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125298619G>A	uc004euk.1	-	1	1316	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299369	125299369	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299369G>T	uc004euk.1	-	1	566	c.539C>A	c.(538-540)CCC>CAC	p.P180H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	180	WD 1.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299872	125299872	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299872T>G	uc004euk.1	-	1	63	c.36A>C	c.(34-36)AAA>AAC	p.K12N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	12										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685932	125685932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685932C>A	uc004eul.2	-	1	911	c.660G>T	c.(658-660)TGG>TGT	p.W220C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4																		---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185200	127185200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:127185200T>C	uc004eum.2	-	1	1183	c.986A>G	c.(985-987)AAG>AGG	p.K329R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	329						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5																		---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128877956	128877956	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128877956T>C	uc004eut.1	+	3	387	c.143T>C	c.(142-144)GTC>GCC	p.V48A	XPNPEP2_uc011mum.1_Missense_Mutation_p.V48A	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	48					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129041389	129041389	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129041389G>C	uc004euz.2	+	2	101	c.73G>C	c.(73-75)GAC>CAC	p.D25H	UTP14A_uc011mup.1_Missense_Mutation_p.D25H|UTP14A_uc011muq.1_5'UTR	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	25					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147516	129147516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129147516G>A	uc004evb.1	+	4	882	c.768G>A	c.(766-768)CCG>CCA	p.P256P	BCORL1_uc010nrd.1_Silent_p.P158P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	256	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159025	129159025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129159025T>C	uc004evb.1	+	7	3863	c.3749T>C	c.(3748-3750)TTC>TCC	p.F1250S	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.F12S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129185849	129185849	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129185849T>G	uc004evb.1	+	12	4825	c.4711T>G	c.(4711-4713)TTT>GTT	p.F1571V	BCORL1_uc004evc.1_Missense_Mutation_p.F407V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1571					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129339307	129339307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129339307G>A	uc004evm.2	-	17	2279	c.2125C>T	c.(2125-2127)CGT>TGT	p.R709C		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129362957	129362957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129362957A>G	uc004evm.2	-	10	1295	c.1141T>C	c.(1141-1143)TTT>CTT	p.F381L	ZNF280C_uc010nrf.1_Missense_Mutation_p.F381L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129804045	129804045	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129804045C>A	uc004evw.2	-	8	1093	c.675G>T	c.(673-675)GAG>GAT	p.E225D	ENOX2_uc004evx.2_Missense_Mutation_p.E196D|ENOX2_uc004evy.2_Missense_Mutation_p.E196D|ENOX2_uc004evv.2_Missense_Mutation_p.E52D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	225					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130408638	130408638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130408638C>T	uc004ewd.2	-	18	3924	c.3686G>A	c.(3685-3687)CGC>CAC	p.R1229H	IGSF1_uc004ewe.3_Missense_Mutation_p.R1223H|IGSF1_uc004ewf.2_Missense_Mutation_p.R1209H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1229	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130416641	130416641	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130416641T>C	uc004ewd.2	-	7	1261	c.1023A>G	c.(1021-1023)CTA>CTG	p.L341L	IGSF1_uc004ewe.3_Silent_p.L330L|IGSF1_uc004ewf.2_Silent_p.L321L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	341	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131211940	131211940	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131211940T>A	uc004ewn.2	-	12	2283	c.2105A>T	c.(2104-2106)GAC>GTC	p.D702V	FRMD7_uc011muy.1_Missense_Mutation_p.D687V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	702					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
RAP2C	57826	broad.mit.edu	37	X	131348297	131348297	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131348297A>T	uc004ewp.2	-	3	1235	c.451T>A	c.(451-453)TCA>ACA	p.S151T	RAP2C_uc004ewo.2_Missense_Mutation_p.S85T|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.S151T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	151					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160099	132160099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132160099G>A	uc010nrm.1	-	6	2620	c.2150C>T	c.(2149-2151)ACT>ATT	p.T717I	USP26_uc011mvf.1_Missense_Mutation_p.T717I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	717					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161101	132161101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132161101G>A	uc010nrm.1	-	6	1618	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	USP26_uc011mvf.1_Missense_Mutation_p.A383V	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MIR450A2	574505	broad.mit.edu	37	X	133674582	133674582	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133674582C>G	hsa-mir-450a-2|MI0003187	-			c.56C>G			MIR450B_hsa-mir-450b|MI0005531_5'Flank|MIR450A1_hsa-mir-450a-1|MI0001652_5'Flank|uc011mvl.1_5'Flank																	0																		---	---	---	---
FAM127C	441518	broad.mit.edu	37	X	134156176	134156176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134156176A>G	uc004eyc.1	-	1	391	c.314T>C	c.(313-315)TTT>TCT	p.F105S		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	105											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FAM127B	26071	broad.mit.edu	37	X	134186058	134186058	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134186058A>G	uc004eyf.2	-	1	164	c.81T>C	c.(79-81)ATT>ATC	p.I27I	FAM127B_uc004eyg.3_Silent_p.I27I	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	27											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZNF75D	7626	broad.mit.edu	37	X	134426266	134426266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134426266A>G	uc004eyp.2	-	4	3200	c.545T>C	c.(544-546)GTA>GCA	p.V182A	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134680680	134680680	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134680680T>A	uc004eyw.3	+	5	846	c.483T>A	c.(481-483)CCT>CCA	p.P161P		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	161	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134988582	134988582	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134988582C>T	uc004ezh.2	+	7	775	c.608C>T	c.(607-609)ACT>ATT	p.T203I	SAGE1_uc010nry.1_Missense_Mutation_p.T172I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135047292	135047292	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135047292C>T	uc004ezi.1	-	4	587	c.287G>A	c.(286-288)CGT>CAT	p.R96H	MMGT1_uc011mvw.1_Missense_Mutation_p.R161H	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	96	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135308164	135308164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135308164G>A	uc004ezt.2	-	13	2134	c.2043C>T	c.(2041-2043)GAC>GAT	p.D681D	MAP7D3_uc004ezs.2_Silent_p.D645D|MAP7D3_uc011mwc.1_Silent_p.D663D|MAP7D3_uc010nsa.1_Silent_p.D639D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	681						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135405392C>T	uc004ezu.1	+	5	817	c.526C>T	c.(526-528)CGT>TGT	p.R176C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135427956	135427956	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135427956C>T	uc004ezu.1	+	6	2382	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	697	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429100	135429100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135429100C>T	uc004ezu.1	+	6	3526	c.3235C>T	c.(3235-3237)CCT>TCT	p.P1079S	GPR112_uc010nsb.1_Missense_Mutation_p.P874S|GPR112_uc010nsc.1_Missense_Mutation_p.P846S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1079	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430773	135430773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135430773A>G	uc004ezu.1	+	6	5199	c.4908A>G	c.(4906-4908)GCA>GCG	p.A1636A	GPR112_uc010nsb.1_Silent_p.A1431A|GPR112_uc010nsc.1_Silent_p.A1403A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1636	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135482127	135482127	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135482127T>A	uc004ezu.1	+	21	8718	c.8427T>A	c.(8425-8427)TGT>TGA	p.C2809*	GPR112_uc010nsb.1_Nonsense_Mutation_p.C2604*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2809	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593206	135593206	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135593206A>T	uc004ezw.2	+	10	1724	c.1302A>T	c.(1300-1302)ACA>ACT	p.T434T	HTATSF1_uc004ezx.2_Silent_p.T434T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	434	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135594180	135594180	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135594180A>G	uc004ezw.2	+	10					HTATSF1_uc004ezx.2_3'UTR	NM_001163280	NP_001156752			HIV-1 Tat specific factor 1						regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
VGLL1	51442	broad.mit.edu	37	X	135631112	135631112	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135631112C>T	uc004ezy.2	+	3	749	c.579C>T	c.(577-579)GGC>GGT	p.G193G	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135732555	135732555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135732555A>G	uc004faa.2	+	2	359	c.287A>G	c.(286-288)AAG>AGG	p.K96R	CD40LG_uc010nsd.2_Missense_Mutation_p.K96R|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	96	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)									Immune_Deficiency_with_Hyper-IgM				---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135760126	135760126	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135760126T>A	uc004fab.2	-						ARHGEF6_uc011mwd.1_Intron|ARHGEF6_uc011mwe.1_Intron	NM_004840	NP_004831			Rac/Cdc42 guanine nucleotide exchange factor 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136651095	136651095	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136651095T>C	uc004fak.2	+	2	1600	c.1095T>C	c.(1093-1095)TGT>TGC	p.C365C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	365	C2H2-type 4.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138697061	138697061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138697061G>A	uc004fau.2	-	10	1636	c.1342C>T	c.(1342-1344)CCA>TCA	p.P448S	MCF2_uc004fav.2_Missense_Mutation_p.P448S|MCF2_uc011mwl.1_Missense_Mutation_p.P409S|MCF2_uc010nsh.1_Missense_Mutation_p.P448S|MCF2_uc011mwm.1_Missense_Mutation_p.P409S|MCF2_uc011mwn.1_Missense_Mutation_p.P593S|MCF2_uc004faw.2_Missense_Mutation_p.P508S|MCF2_uc011mwo.1_Missense_Mutation_p.P508S	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	448					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138713569	138713569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138713569C>T	uc004fau.2	-	3	567	c.273G>A	c.(271-273)TGG>TGA	p.W91*	MCF2_uc004fav.2_Nonsense_Mutation_p.W91*|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Nonsense_Mutation_p.W91*|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Nonsense_Mutation_p.W236*|MCF2_uc004faw.2_Nonsense_Mutation_p.W151*|MCF2_uc011mwo.1_Nonsense_Mutation_p.W151*	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138840024	138840024	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138840024G>T	uc004faz.2	-	23	2751	c.2652C>A	c.(2650-2652)AAC>AAA	p.N884K	ATP11C_uc004fax.2_Missense_Mutation_p.N92K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N884K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	884	Helical; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038105	139038105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139038105A>G	uc004fbb.2	-	3	1058	c.1036T>C	c.(1036-1038)TGT>CGT	p.C346R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	346	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586639	139586639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139586639C>T	uc004fbd.1	-	1	587	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
SPANXE	171489	broad.mit.edu	37	X	140785771	140785771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140785771T>A	uc004fbq.2	-	2	238	c.145A>T	c.(145-147)ACC>TCC	p.T49S		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	49						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969268	140969268	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140969268T>C	uc011mwp.1	+	4	595	c.595T>C	c.(595-597)TAT>CAT	p.Y199H		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	199	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995836	140995836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995836A>G	uc004fbt.2	+	4	2932	c.2646A>G	c.(2644-2646)TCA>TCG	p.S882S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	882							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967329	142967329	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142967329T>A	uc004fca.2	+	1	157	c.127T>A	c.(127-129)TCA>ACA	p.S43T		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	43							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MIR513B	100302253	broad.mit.edu	37	X	146280611	146280611	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146280611A>G	hsa-mir-513b|MI0006648	-			c.35A>G																				0																		---	---	---	---
MIR506	574511	broad.mit.edu	37	X	146312238	146312238	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146312238G>A	hsa-mir-506|MI0003193	-			c.124G>A																				0																		---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147027084	147027084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147027084G>A	uc010nst.2	+	16	1874	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	FMR1_uc004fcj.2_Missense_Mutation_p.R539H|FMR1_uc004fck.3_Missense_Mutation_p.R516H|FMR1_uc004fcl.3_Missense_Mutation_p.R402H|FMR1_uc011mxa.1_Missense_Mutation_p.R209H	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	562	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037982	148037982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037982G>A	uc004fcp.2	+	11	2886	c.2407G>A	c.(2407-2409)GTG>ATG	p.V803M	AFF2_uc004fcq.2_Missense_Mutation_p.V793M|AFF2_uc004fcr.2_Missense_Mutation_p.V764M|AFF2_uc011mxb.1_Missense_Mutation_p.V768M|AFF2_uc004fcs.2_Missense_Mutation_p.V770M|AFF2_uc011mxc.1_Missense_Mutation_p.V444M	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	803					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148068943	148068943	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148068943G>A	uc004fcp.2	+	20	4149	c.3670G>A	c.(3670-3672)GCA>ACA	p.A1224T	AFF2_uc004fcq.2_Missense_Mutation_p.A1214T|AFF2_uc004fcr.2_Missense_Mutation_p.A1185T|AFF2_uc011mxb.1_Missense_Mutation_p.A1189T|AFF2_uc004fcs.2_Missense_Mutation_p.A1189T|AFF2_uc011mxc.1_Missense_Mutation_p.A865T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1224					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148072815	148072815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148072815G>A	uc004fcp.2	+	21	4368	c.3889G>A	c.(3889-3891)GTT>ATT	p.V1297I	AFF2_uc004fcq.2_Missense_Mutation_p.V1287I|AFF2_uc004fcr.2_Missense_Mutation_p.V1258I|AFF2_uc011mxb.1_Missense_Mutation_p.V1262I|AFF2_uc004fcs.2_Missense_Mutation_p.V1262I|AFF2_uc011mxc.1_Missense_Mutation_p.V938I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1297					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148690318	148690318	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148690318A>G	uc011mxq.1	-	4	730	c.419T>C	c.(418-420)CTA>CCA	p.L140P	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.L81P|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.L57P	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	140						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148796244	148796244	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148796244A>G	uc004fdq.2	+						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron	NM_005366	NP_005357			melanoma antigen family A, 11 isoform a							cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797265	148797265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148797265T>G	uc004fdq.2	+	4	296	c.194T>G	c.(193-195)GTT>GGT	p.V65G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V36G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	65						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149631037	149631037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149631037G>T	uc004fee.1	+	2	173	c.97_splice	c.e2-1	p.G33_splice	MAMLD1_uc011mxt.1_Splice_Site|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron	NM_005491	NP_005482			mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638867	149638867	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149638867G>T	uc004fee.1	+	3	1098	c.1022G>T	c.(1021-1023)CGC>CTC	p.R341L	MAMLD1_uc011mxt.1_Missense_Mutation_p.R303L|MAMLD1_uc011mxu.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxv.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxw.1_Missense_Mutation_p.R268L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	341					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTM1	4534	broad.mit.edu	37	X	149814303	149814303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149814303A>G	uc004fef.3	+	9	902	c.826A>G	c.(826-828)ATT>GTT	p.I276V	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.I239V|MTM1_uc011mxz.1_Missense_Mutation_p.I161V|MTM1_uc010nte.2_Missense_Mutation_p.I144V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	276	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149898689	149898689	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149898689A>G	uc004fei.2	+						MTMR1_uc011mya.1_Intron|MTMR1_uc004feg.1_Intron|MTMR1_uc004feh.1_Intron|MTMR1_uc004fej.2_Intron|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819			myotubularin-related protein 1							plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149905205	149905205	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149905205C>T	uc004fei.2	+	10	1330	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W	MTMR1_uc011mya.1_Missense_Mutation_p.R305W|MTMR1_uc004feh.1_Missense_Mutation_p.R407W|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	399	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869432	150869432	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150869432C>T	uc004few.1	+	4	1013	c.623C>T	c.(622-624)GCC>GTC	p.A208V		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	208	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150907014	150907014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150907014C>T	uc004fey.1	+	2	283	c.59C>T	c.(58-60)GCA>GTA	p.A20V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	20	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911846	150911846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911846T>C	uc004fey.1	+	7	1095	c.871T>C	c.(871-873)TGC>CGC	p.C291R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	291	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092384	151092384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092384A>G	uc004fez.2	+	3	404	c.248A>G	c.(247-249)CAA>CGA	p.Q83R	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q83R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	83							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303862	151303862	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151303862A>G	uc004ffk.2	-	5	639	c.231T>C	c.(229-231)GAT>GAC	p.D77D	MAGEA10_uc004ffl.2_Silent_p.D77D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	77											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151366166	151366166	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151366166G>A	uc010ntk.1	-	8	1110	c.870C>T	c.(868-870)GTC>GTT	p.V290V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	290	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900642	151900642	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151900642C>A	uc010ntp.2	-	3	513	c.159G>T	c.(157-159)GTG>GTT	p.V53V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.V53V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	53										skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CETN2	1069	broad.mit.edu	37	X	151997191	151997191	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151997191G>T	uc004fgq.2	-	4	366	c.319C>A	c.(319-321)CTG>ATG	p.L107M	CETN2_uc004fgr.2_Missense_Mutation_p.L36M|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	107	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)												Direct_reversal_of_damage|NER					---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152018925	152018925	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152018925T>A	uc004fgt.1	+	4	486	c.225T>A	c.(223-225)AAT>AAA	p.N75K	NSDHL_uc004fgs.1_Missense_Mutation_p.N75K	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	75					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)													---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152128250	152128250	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152128250A>T	uc010ntv.1	+	17	1451	c.1414A>T	c.(1414-1416)ACT>TCT	p.T472S	ZNF185_uc011myg.1_Missense_Mutation_p.T504S|ZNF185_uc011myh.1_Missense_Mutation_p.T475S|ZNF185_uc011myi.1_Missense_Mutation_p.T443S|ZNF185_uc011myj.1_Missense_Mutation_p.T413S|ZNF185_uc011myk.1_Missense_Mutation_p.T473S|ZNF185_uc004fgw.3_Missense_Mutation_p.T251S|ZNF185_uc004fgu.2_Missense_Mutation_p.T101S|ZNF185_uc004fgv.2_Missense_Mutation_p.T169S|ZNF185_uc004fgx.2_Missense_Mutation_p.T110S	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	472						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152814246	152814246	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152814246G>A	uc004fht.1	+	8	1398	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	ATP2B3_uc004fhs.1_Silent_p.V424V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	424	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152821585	152821585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152821585C>T	uc004fht.1	+	12	2263	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	713	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152835151	152835151	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152835151A>C	uc004fht.1	+						ATP2B3_uc004fhs.1_Missense_Mutation_p.T1145P|ATP2B3_uc010nuf.1_Missense_Mutation_p.T168P|ATP2B3_uc004fhu.1_Intron	NM_001001344	NP_001001344			plasma membrane calcium ATPase 3 isoform 3b						ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SLC6A8	6535	broad.mit.edu	37	X	152958731	152958731	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152958731C>T	uc004fib.3	+	6	1204	c.926C>T	c.(925-927)GCG>GTG	p.A309V	SLC6A8_uc004fic.3_Missense_Mutation_p.A309V|SLC6A8_uc011myx.1_Missense_Mutation_p.A194V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	309	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)													---	---	---	---
ABCD1	215	broad.mit.edu	37	X	152991452	152991452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152991452C>T	uc004fif.2	+	1	1130	c.731C>T	c.(730-732)TCG>TTG	p.S244L	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	244	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153095697	153095697	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153095697C>T	uc004fiz.1	-	1	307	c.57G>A	c.(55-57)CTG>CTA	p.L19L	PDZD4_uc004fiy.1_5'Flank|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.L19L|PDZD4_uc011mze.1_Silent_p.L19L	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	19						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153132191	153132191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153132191C>T	uc004fjb.2	-	18	2452	c.2344G>A	c.(2344-2346)GTG>ATG	p.V782M	L1CAM_uc004fjc.2_Missense_Mutation_p.V782M|L1CAM_uc010nuo.2_Missense_Mutation_p.V777M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	782	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153133891	153133891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153133891C>T	uc004fjb.2	-	13	1677	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	L1CAM_uc004fjc.2_Silent_p.G523G|L1CAM_uc010nuo.2_Silent_p.G518G|L1CAM_uc004fjd.1_Silent_p.G337G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	523	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153136295	153136295	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153136295C>A	uc004fjb.2	-	6	752	c.644G>T	c.(643-645)GGC>GTC	p.G215V	L1CAM_uc004fjc.2_Missense_Mutation_p.G215V|L1CAM_uc010nuo.2_Missense_Mutation_p.G210V|L1CAM_uc004fjd.1_Missense_Mutation_p.G29V|L1CAM_uc004fje.1_Missense_Mutation_p.G210V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	215	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171979	153171979	+	Missense_Mutation	SNP	G	A	A	rs145953185	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171979G>A	uc004fjh.3	+	3	984	c.913G>A	c.(913-915)GCG>ACG	p.A305T	AVPR2_uc004fjg.3_Missense_Mutation_p.A94T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171981	153171981	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171981G>A	uc004fjh.3	+	3	986	c.915G>A	c.(913-915)GCG>GCA	p.A305A	AVPR2_uc004fjg.3_Silent_p.A94A|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209857	153209857	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153209857T>G	uc004fjo.1	-	2	211	c.41A>C	c.(40-42)GAG>GCG	p.E14A	RENBP_uc011mzh.1_Missense_Mutation_p.E14A|RENBP_uc011mzi.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	14					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153295906	153295906	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153295906C>T	uc004fjv.2	-	4	1599	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MECP2_uc004fjw.2_Missense_Mutation_p.R470H	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	458					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153298000	153298000	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153298000T>C	uc004fjv.2	-	3	261	c.35A>G	c.(34-36)AAG>AGG	p.K12R	MECP2_uc004fjw.2_Missense_Mutation_p.K24R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	12					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153533696	153533696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153533696G>A	uc004fkg.2	+	2	361	c.175G>A	c.(175-177)GTG>ATG	p.V59M	TKTL1_uc011mzl.1_Missense_Mutation_p.V53M|TKTL1_uc011mzm.1_Missense_Mutation_p.V59M|TKTL1_uc004fkh.2_Missense_Mutation_p.V3M	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	59					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153579955	153579955	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153579955G>A	uc004fkk.2	-	43	7266	c.7017C>T	c.(7015-7017)AGC>AGT	p.S2339S	FLNA_uc004fki.2_Silent_p.S382S|FLNA_uc011mzn.1_Silent_p.S472S|FLNA_uc010nuu.1_Silent_p.S2331S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2339	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153626864	153626864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153626864G>A	uc004fkm.2	+	2	192	c.4G>A	c.(4-6)GGC>AGC	p.G2S	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.G2S|RPL10_uc004fkn.1_Missense_Mutation_p.G2S|RPL10_uc004fkp.1_Missense_Mutation_p.G2S|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153696426	153696426	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153696426T>C	uc004flm.2	+	22	3995	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1274	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153699468	153699468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153699468T>C	uc004flm.2	+	31	5350	c.5177T>C	c.(5176-5178)GTG>GCG	p.V1726A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1726	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
SLC10A3	8273	broad.mit.edu	37	X	153717218	153717218	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153717218C>T	uc004flq.2	-	3	326	c.62G>A	c.(61-63)GGT>GAT	p.G21D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.G21D|SLC10A3_uc004flp.2_Missense_Mutation_p.G21D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	21					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153940895	153940895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153940895G>A	uc004fmj.1	-	4	723	c.675C>T	c.(673-675)TGC>TGT	p.C225C	GAB3_uc004fmk.1_Silent_p.C226C|GAB3_uc010nve.1_Silent_p.C226C|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	225										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153941521	153941521	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153941521A>C	uc004fmj.1	-	3	602	c.554T>G	c.(553-555)GTT>GGT	p.V185G	GAB3_uc004fmk.1_Missense_Mutation_p.V186G|GAB3_uc010nve.1_Missense_Mutation_p.V186G|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	185										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	154003323	154003323	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154003323T>A	uc004fmm.2	+						DKC1_uc010nvf.2_Intron|SNORA56_uc004fmo.2_RNA	NM_001363	NP_001354			dyskerin isoform 1						cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													Congenital_Dyskeratosis				---	---	---	---
MPP1	4354	broad.mit.edu	37	X	154009926	154009926	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154009926C>T	uc004fmp.1	-	10	1213	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	MPP1_uc010nvg.1_Silent_p.V346V|MPP1_uc011mzv.1_Silent_p.V336V|MPP1_uc004fmq.1_Silent_p.V320V|MPP1_uc011mzw.1_Silent_p.V349V	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	366	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
F8	2157	broad.mit.edu	37	X	154130417	154130417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154130417T>C	uc004fmt.2	-	19	6195	c.6024A>G	c.(6022-6024)TTA>TTG	p.L2008L	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2008	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154157568	154157568	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154157568G>T	uc004fmt.2	-	14	4668	c.4497C>A	c.(4495-4497)CTC>CTA	p.L1499L		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1499	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154158736	154158736	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154158736T>G	uc004fmt.2	-	14	3500	c.3329A>C	c.(3328-3330)AAT>ACT	p.N1110T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1110	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
VBP1	7411	broad.mit.edu	37	X	154448586	154448586	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154448586T>C	uc004fnc.2	+	2	277	c.218_splice	c.e2+2	p.R73_splice	VBP1_uc004fnd.2_Splice_Site_p.R36_splice	NM_003372	NP_003363			von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154741379	154741379	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154741379G>A	uc004fnn.2	-	5	879	c.713C>T	c.(712-714)GCT>GTT	p.A238V	TMLHE_uc004fno.2_Missense_Mutation_p.A238V|TMLHE_uc004fnp.3_Missense_Mutation_p.A238V	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	238					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
SAMD11	148398	broad.mit.edu	37	1	879321	879321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:879321G>A	uc001abw.1	+	14	1914	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	SAMD11_uc001abx.1_Missense_Mutation_p.A475T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	612						nucleus					0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	985290	985290	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:985290C>T	uc001ack.1	+	27	4802	c.4752C>T	c.(4750-4752)ACC>ACT	p.T1584T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1584	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	986870	986870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:986870A>G	uc001ack.1	+	32	5458	c.5408A>G	c.(5407-5409)CAC>CGC	p.H1803R		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1803	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
AGRN	375790	broad.mit.edu	37	1	987126	987126	+	Missense_Mutation	SNP	C	T	T	rs138113721		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:987126C>T	uc001ack.1	+	33	5632	c.5582C>T	c.(5581-5583)GCG>GTG	p.A1861V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1861					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
UBE2J2	118424	broad.mit.edu	37	1	1190610	1190610	+	Silent	SNP	G	A	A	rs147177041		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1190610G>A	uc001adn.2	-	7	1063	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	UBE2J2_uc001adm.2_Silent_p.Y216Y|UBE2J2_uc001ado.2_Silent_p.Y267Y|UBE2J2_uc001adp.2_Silent_p.Y251Y|UBE2J2_uc001adq.2_Silent_p.Y199Y|UBE2J2_uc001adr.2_Silent_p.Y199Y|UBE2J2_uc001ads.2_Silent_p.Y199Y	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	251	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)														---	---	---	---
CPSF3L	54973	broad.mit.edu	37	1	1249150	1249150	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1249150C>T	uc001aee.1	-	9	977	c.919G>A	c.(919-921)GCC>ACC	p.A307T	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.A313T|CPSF3L_uc009vjz.1_Missense_Mutation_p.A285T|CPSF3L_uc010nyj.1_Missense_Mutation_p.A278T|CPSF3L_uc001aeg.1_Missense_Mutation_p.A183T|CPSF3L_uc001aeh.1_Missense_Mutation_p.A206T|CPSF3L_uc001aei.1_Missense_Mutation_p.A209T|CPSF3L_uc001aej.1_Missense_Mutation_p.A134T|CPSF3L_uc001aek.1_Missense_Mutation_p.A49T	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	307						Golgi apparatus|nucleus	hydrolase activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)														---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1275509	1275509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1275509C>T	uc001aer.3	-	8	865	c.818G>A	c.(817-819)CGT>CAT	p.R273H	DVL1_uc002quu.2_Translation_Start_Site|DVL1_uc009vka.2_Translation_Start_Site|DVL1_uc001aeu.1_Translation_Start_Site	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	273	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1325706	1325706	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1325706C>T	uc001afi.2	-	8	942	c.910G>A	c.(910-912)GCT>ACT	p.A304T	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A82T|CCNL2_uc001afg.1_Missense_Mutation_p.A82T|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	304					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)														---	---	---	---
MORN1	79906	broad.mit.edu	37	1	2288909	2288909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2288909G>A	uc001ajb.1	-	10	1019	c.998C>T	c.(997-999)GCC>GTC	p.A333V	MORN1_uc009vld.2_Missense_Mutation_p.A309V|MORN1_uc001ajd.1_Missense_Mutation_p.A333V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)														---	---	---	---
PANK4	55229	broad.mit.edu	37	1	2447082	2447082	+	Silent	SNP	G	A	A	rs143863716	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2447082G>A	uc001ajm.1	-	10	1302	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PANK4_uc010nza.1_Silent_p.Y392Y	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	431					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3394499	3394499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3394499G>A	uc001akg.3	+	11	1782	c.1534G>A	c.(1534-1536)GAA>AAA	p.E512K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E224K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E224K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E216K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
ARHGEF16	27237	broad.mit.edu	37	1	3395096	3395096	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3395096C>T	uc001akg.3	+	12	1982	c.1734C>T	c.(1732-1734)TCC>TCT	p.S578S	ARHGEF16_uc001aki.2_Silent_p.S290S|ARHGEF16_uc001akj.2_Silent_p.S290S|ARHGEF16_uc010nzh.1_Silent_p.S282S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3417801	3417801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3417801C>T	uc001akl.2	-	19	2613	c.2386G>A	c.(2386-2388)GAC>AAC	p.D796N	MEGF6_uc001akk.2_Missense_Mutation_p.D691N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	796	EGF-like 13.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
WDR8	49856	broad.mit.edu	37	1	3552529	3552529	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3552529T>C	uc001ako.2	-	6	690	c.582A>G	c.(580-582)GCA>GCG	p.A194A	WDR8_uc001akn.3_Silent_p.A194A|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	194	WD 3.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3669074	3669074	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3669074C>A	uc001akv.2	+	1	110	c.29C>A	c.(28-30)CCC>CAC	p.P10H		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	10										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	5965824	5965824	+	Missense_Mutation	SNP	G	A	A	rs12093500	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:5965824G>A	uc001alq.1	-	14	1897	c.1631C>T	c.(1630-1632)GCC>GTC	p.A544V	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	544					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	6008211	6008211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6008211A>G	uc001alq.1	-	8	1177	c.911T>C	c.(910-912)GTT>GCT	p.V304A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	304					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6172337	6172337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6172337T>A	uc001amb.1	-	35	5103	c.5003A>T	c.(5002-5004)GAT>GTT	p.D1668V	CHD5_uc001alz.1_Missense_Mutation_p.D525V|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6202212	6202212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6202212A>G	uc001amb.1	-	15	2512	c.2412T>C	c.(2410-2412)AGT>AGC	p.S804S	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6311498	6311498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6311498C>A	uc001amp.1	-	4	1139	c.879G>T	c.(877-879)CTG>CTT	p.L293L	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	293	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314057	6314057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6314057G>A	uc001amp.1	-	3	767	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	169	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)														---	---	---	---
TNFRSF25	8718	broad.mit.edu	37	1	6521665	6521665	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6521665G>T	uc001ane.2	-	10	1171	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	TNFRSF25_uc001ana.2_Silent_p.I178I|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.I134I|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.I324I|TNFRSF25_uc001ang.2_Silent_p.I316I|TNFRSF25_uc001anh.2_Silent_p.I370I	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	361	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6649079	6649079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6649079T>C	uc009vmc.1	+	11	1997	c.1874T>C	c.(1873-1875)GTG>GCG	p.V625A	ZBTB48_uc001anx.2_Missense_Mutation_p.V625A|ZBTB48_uc009vmd.1_Missense_Mutation_p.V625A|ZBTB48_uc001any.1_Missense_Mutation_p.V263A	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	625						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6712987	6712987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6712987C>T	uc001aof.2	-	6	638	c.532G>A	c.(532-534)GCC>ACC	p.A178T	DNAJC11_uc010nzt.1_Missense_Mutation_p.A140T|DNAJC11_uc001aog.2_Missense_Mutation_p.A178T|DNAJC11_uc010nzu.1_Missense_Mutation_p.A88T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	178					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6885143	6885143	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6885143T>C	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7797373	7797373	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7797373G>A	uc001aoi.2	+	15	3608	c.3401G>A	c.(3400-3402)CGT>CAT	p.R1134H	CAMTA1_uc010nzv.1_Missense_Mutation_p.R221H|CAMTA1_uc001aok.3_Missense_Mutation_p.R177H|CAMTA1_uc001aoj.2_Missense_Mutation_p.R90H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7798045	7798045	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7798045T>G	uc001aoi.2	+	16	3892	c.3685T>G	c.(3685-3687)TCT>GCT	p.S1229A	CAMTA1_uc010nzv.1_Missense_Mutation_p.S316A|CAMTA1_uc001aok.3_Missense_Mutation_p.S272A|CAMTA1_uc001aoj.2_Missense_Mutation_p.S185A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---
PER3	8863	broad.mit.edu	37	1	7887864	7887864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887864C>T	uc001aoo.2	+	17	3026	c.2851C>T	c.(2851-2853)CAA>TAA	p.Q951*	PER3_uc009vmg.1_Nonsense_Mutation_p.Q959*|PER3_uc009vmh.1_Nonsense_Mutation_p.Q952*|PER3_uc001aop.2_Nonsense_Mutation_p.Q959*|PER3_uc010nzw.1_Nonsense_Mutation_p.Q640*	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8418702	8418702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8418702G>A	uc001ape.2	-	21	4703	c.3893C>T	c.(3892-3894)ACC>ATC	p.T1298I	RERE_uc001apf.2_Missense_Mutation_p.T1298I|RERE_uc001apd.2_Missense_Mutation_p.T744I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1298					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8568729	8568729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8568729A>G	uc001ape.2	-	9	1646	c.836T>C	c.(835-837)CTG>CCG	p.L279P	RERE_uc001apf.2_Missense_Mutation_p.L279P|RERE_uc010nzx.1_Missense_Mutation_p.L11P|RERE_uc001aph.1_Missense_Mutation_p.L279P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	279	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8684437	8684437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8684437A>G	uc001ape.2	-	4	1138	c.328T>C	c.(328-330)TGT>CGT	p.C110R	RERE_uc001apf.2_Missense_Mutation_p.C110R|RERE_uc001aph.1_Missense_Mutation_p.C110R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	110	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
GPR157	80045	broad.mit.edu	37	1	9188749	9188749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9188749C>T	uc001apq.1	-	1	481	c.338G>A	c.(337-339)CGC>CAC	p.R113H	GPR157_uc010oad.1_Missense_Mutation_p.R113H|GPR157_uc001apr.2_Missense_Mutation_p.R113H|GPR157_uc001aps.2_Silent_p.A161A	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	113	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
CTNNBIP1	56998	broad.mit.edu	37	1	9910819	9910819	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9910819A>G	uc001aqk.1	-	6	510	c.203T>C	c.(202-204)GTG>GCG	p.V68A	CTNNBIP1_uc001aql.1_Missense_Mutation_p.V68A	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	68					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10165777	10165777	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10165777T>A	uc001aqs.3	+	6	1497	c.784T>A	c.(784-786)TCC>ACC	p.S262T	UBE4B_uc001aqr.3_Missense_Mutation_p.S262T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	262					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10231209	10231209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10231209G>A	uc001aqs.3	+	25	4060	c.3347G>A	c.(3346-3348)CGA>CAA	p.R1116Q	UBE4B_uc001aqr.3_Missense_Mutation_p.R987Q|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R571Q|UBE4B_uc001aqu.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1116					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10423365	10423365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10423365A>G	uc001aqx.3	+	41	4531	c.4329A>G	c.(4327-4329)GAA>GAG	p.E1443E	KIF1B_uc001aqw.3_Silent_p.E1397E|KIF1B_uc001aqy.2_Silent_p.E1417E|KIF1B_uc001aqz.2_Silent_p.E1443E|KIF1B_uc001ara.2_Silent_p.E1403E|KIF1B_uc001arb.2_Silent_p.E1429E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1443					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
DFFA	1676	broad.mit.edu	37	1	10523179	10523179	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10523179T>C	uc001arj.2	-	5	817	c.719A>G	c.(718-720)CAC>CGC	p.H240R	DFFA_uc001ark.2_Missense_Mutation_p.H240R	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	240					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10714658	10714658	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10714658A>G	uc001aro.2	-						CASZ1_uc001arp.1_Intron|CASZ1_uc009vmx.2_Intron	NM_001079843	NP_001073312			castor homolog 1, zinc finger isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10720009	10720009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10720009C>T	uc001aro.2	-	6	1410	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	CASZ1_uc001arp.1_Missense_Mutation_p.A364T|CASZ1_uc009vmx.2_Missense_Mutation_p.A388T|CASZ1_uc001arq.1_Missense_Mutation_p.A223T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187061	11187061	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187061T>C	uc001asd.2	-						MTOR_uc001asc.2_Intron	NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11206822	11206822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11206822T>C	uc001asd.2	-	32	4718	c.4597A>G	c.(4597-4599)ACC>GCC	p.T1533A		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1533	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11313937	11313937	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11313937T>C	uc001asd.2	-	6	920	c.799A>G	c.(799-801)ATC>GTC	p.I267V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	267					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11580746	11580746	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11580746C>T	uc001ash.3	+	10	2341	c.2203C>T	c.(2203-2205)CTG>TTG	p.L735L	PTCHD2_uc001asi.1_Silent_p.L735L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	735	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11591735	11591735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11591735C>T	uc001ash.3	+	17	3481	c.3343C>T	c.(3343-3345)CGC>TGC	p.R1115C		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1115	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11595642	11595642	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11595642G>A	uc001ash.3	+	20	3895	c.3757G>A	c.(3757-3759)GTC>ATC	p.V1253I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1253	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12018613	12018613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12018613A>G	uc001atm.2	+	9	975	c.884A>G	c.(883-885)GAA>GGA	p.E295G	PLOD1_uc010obb.1_Missense_Mutation_p.E342G	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	295					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12198386	12198386	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12198386A>G	uc001atq.2	+	14	1658	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNFRSF8_uc010obc.1_Missense_Mutation_p.Y367C|TNFRSF8_uc001atr.2_Missense_Mutation_p.Y16C|TNFRSF8_uc001ats.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	479	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AADACL4	343066	broad.mit.edu	37	1	12726188	12726188	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12726188T>A	uc001auf.2	+	4	666	c.666T>A	c.(664-666)TAT>TAA	p.Y222*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	222	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)														---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12855624	12855624	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12855624T>C	uc001auj.1	+	4	1007	c.904T>C	c.(904-906)TAT>CAT	p.Y302H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	302											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
LOC649330	649330	broad.mit.edu	37	1	12907311	12907311	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12907311C>T	uc009vno.2	-	1	927	c.832G>A	c.(832-834)GAG>AAG	p.E278K	HNRNPCL1_uc010obf.1_Missense_Mutation_p.E278K	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	278							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14059379	14059379	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14059379T>C	uc001avi.2	+	4	1087	c.231_splice	c.e4+2	p.E77_splice	PRDM2_uc001avg.2_Splice_Site_p.E77_splice|PRDM2_uc001avh.2_Splice_Site_p.E77_splice|PRDM2_uc001avj.2_Intron	NM_012231	NP_036363			retinoblastoma protein-binding zinc finger							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105882	14105882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14105882C>T	uc001avi.2	+	8	2448	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A531V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.A288V|PRDM2_uc001avk.2_Missense_Mutation_p.A330V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	531						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108310	14108310	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108310A>G	uc001avi.2	+	8	4876	c.4020A>G	c.(4018-4020)AAA>AAG	p.K1340K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.K1340K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.K1139K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1340	C2H2-type 7; atypical.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108484	14108484	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108484A>T	uc001avi.2	+	8	5050	c.4194A>T	c.(4192-4194)GGA>GGT	p.G1398G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1398G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1197G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1398	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108568	14108568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108568T>A	uc001avi.2	+	8	5134	c.4278T>A	c.(4276-4278)AAT>AAA	p.N1426K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.N1426K|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.N1225K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1426	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108802	14108802	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14108802T>C	uc001avi.2	+	8	5368	c.4512T>C	c.(4510-4512)AGT>AGC	p.S1504S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1504S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1303S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1504						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15390079	15390079	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15390079C>T	uc001avm.3	+	7	1340	c.1059C>T	c.(1057-1059)CCC>CCT	p.P353P	KAZ_uc009vog.1_Silent_p.P353P|KAZ_uc010obj.1_Silent_p.P353P|KAZ_uc001avo.2_Silent_p.P347P|KAZ_uc001avp.2_Silent_p.P259P|KAZ_uc001avq.2_Silent_p.P259P|KAZ_uc001avr.2_Missense_Mutation_p.R255W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	353					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
CELA2B	51032	broad.mit.edu	37	1	15812448	15812448	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15812448C>T	uc001awl.2	+	6	571	c.546C>T	c.(544-546)GAC>GAT	p.D182D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	182	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
CASP9	842	broad.mit.edu	37	1	15833485	15833485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15833485C>T	uc001awn.2	-	4	634	c.539G>A	c.(538-540)CGC>CAC	p.R180H	CASP9_uc001awm.1_Missense_Mutation_p.R180H|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.R24H|CASP9_uc009voi.2_Missense_Mutation_p.R24H|CASP9_uc010obm.1_Missense_Mutation_p.R97H|CASP9_uc001awq.2_Missense_Mutation_p.R97H	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	180					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)														---	---	---	---
PLEKHM2	23207	broad.mit.edu	37	1	16056303	16056303	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16056303C>T	uc010obo.1	+	14	2314	c.2087C>T	c.(2086-2088)GCT>GTT	p.A696V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	696					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16095085	16095085	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16095085A>G	uc001axd.1	+	6	944	c.501A>G	c.(499-501)CCA>CCG	p.P167P	FBLIM1_uc001axe.1_Silent_p.P167P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P167P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	167	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)														---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16263760	16263760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16263760C>T	uc001axk.1	+	12	10333	c.10129C>T	c.(10129-10131)CCC>TCC	p.P3377S	SPEN_uc010obp.1_Missense_Mutation_p.P3336S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3377	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
ZBTB17	7709	broad.mit.edu	37	1	16274869	16274869	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16274869A>T	uc001axl.3	-	3	361	c.122T>A	c.(121-123)GTG>GAG	p.V41E	ZBTB17_uc010obq.1_Intron|ZBTB17_uc010obr.1_Missense_Mutation_p.V41E|ZBTB17_uc010obs.1_5'UTR|ZBTB17_uc010obt.1_Missense_Mutation_p.V41E|ZBTB17_uc010obu.1_Intron|ZBTB17_uc009vom.1_Missense_Mutation_p.V41E|ZBTB17_uc010obv.1_Missense_Mutation_p.V41E|ZBTB17_uc009von.1_Missense_Mutation_p.V44E	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	41	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16382999	16382999	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16382999T>C	uc001axw.3	+	19	2092	c.2012T>C	c.(2011-2013)GTG>GCG	p.V671A	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V671A|CLCNKB_uc001axy.3_Missense_Mutation_p.V501A	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	671	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)												OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16529008	16529008	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16529008T>G	uc001ayc.1	-	13	2106	c.1969A>C	c.(1969-1971)AGC>CGC	p.S657R	ARHGEF19_uc009voo.1_Missense_Mutation_p.S10R|ARHGEF19_uc001ayb.1_Missense_Mutation_p.S134R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	657	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
C1orf144	26099	broad.mit.edu	37	1	16721643	16721643	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16721643C>T	uc001aym.3	+	4					C1orf144_uc010ocb.1_Silent_p.G119G|C1orf144_uc001ayi.3_3'UTR|C1orf144_uc001ayk.3_3'UTR	NM_001114600	NP_001108072			putative MAPK activating protein PM20,PM21												0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17313105	17313105	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17313105C>A	uc001baa.2	-	28	3448	c.3258G>T	c.(3256-3258)GCG>GCT	p.A1086A	ATP13A2_uc001azz.1_Intron|ATP13A2_uc001bab.2_Silent_p.A1081A|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1086	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17316648	17316648	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17316648A>G	uc001baa.2	-	21	2576	c.2386T>C	c.(2386-2388)TCC>CCC	p.S796P	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.S791P|ATP13A2_uc001bac.2_Missense_Mutation_p.S791P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	796	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17332055	17332055	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17332055C>T	uc001baa.2	-						ATP13A2_uc001bab.2_Intron|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372			ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17354302	17354302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17354302T>C	uc001bae.2	-	5	633	c.482A>G	c.(481-483)GAT>GGT	p.D161G		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	161					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17410313	17410313	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17410313A>T	uc001baf.2	-	9	1040	c.958T>A	c.(958-960)TTC>ATC	p.F320I	PADI2_uc010ocm.1_Missense_Mutation_p.F204I|PADI2_uc001bag.1_Missense_Mutation_p.F320I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	320					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17596816	17596816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17596816G>A	uc001bai.2	+	7	781	c.741G>A	c.(739-741)GAG>GAA	p.E247E		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	247					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17609396	17609396	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17609396T>A	uc001bai.2	+	16	1857	c.1817T>A	c.(1816-1818)ATC>AAC	p.I606N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	606					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17720850	17720850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17720850A>G	uc001bak.1	+	12	1237	c.1237A>G	c.(1237-1239)ATG>GTG	p.M413V		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	405					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17747324	17747324	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17747324T>G	uc001bal.2	-	6	792	c.745A>C	c.(745-747)ATA>CTA	p.I249L	RCC2_uc001bam.2_Missense_Mutation_p.I249L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	249	RCC1 3.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17749252	17749252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17749252C>T	uc001bal.2	-	4	651	c.604G>A	c.(604-606)GAA>AAA	p.E202K	RCC2_uc001bam.2_Missense_Mutation_p.E202K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	202	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18021710	18021710	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18021710G>A	uc001ban.2	+	28	3401	c.3242G>A	c.(3241-3243)GGC>GAC	p.G1081D	ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1042D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1037D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G842D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G854D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G784D|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G105D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1081					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19403330	19403330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19403330C>T	uc001bbi.2	-	105	15395	c.15391G>A	c.(15391-15393)GAC>AAC	p.D5131N	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.D26N|UBR4_uc010ocv.1_Missense_Mutation_p.D654N|UBR4_uc009vph.2_Missense_Mutation_p.D786N|UBR4_uc010ocw.1_Missense_Mutation_p.D795N|UBR4_uc001bbg.2_Missense_Mutation_p.D842N|UBR4_uc001bbh.2_Missense_Mutation_p.D840N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5131					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19440266	19440266	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19440266T>C	uc001bbi.2	-	77	11388	c.11384A>G	c.(11383-11385)TAC>TGC	p.Y3795C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3795					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)												OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19447850	19447850	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19447850C>A	uc001bbi.2	-	68	9978	c.9974G>T	c.(9973-9975)TGT>TTT	p.C3325F	UBR4_uc001bbk.1_Missense_Mutation_p.C972F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3325					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19467907	19467907	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19467907G>A	uc001bbi.2	-	57	8426	c.8422C>T	c.(8422-8424)CCT>TCT	p.P2808S	UBR4_uc001bbk.1_Missense_Mutation_p.P490S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2808					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19480342	19480342	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19480342T>C	uc001bbi.2	-	45	6554	c.6550A>G	c.(6550-6552)ACA>GCA	p.T2184A	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.T121A|UBR4_uc001bbm.1_Missense_Mutation_p.T1396A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2184					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
KIAA0090	23065	broad.mit.edu	37	1	19566468	19566468	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19566468T>C	uc001bbo.2	-	8	841	c.798A>G	c.(796-798)TTA>TTG	p.L266L	KIAA0090_uc001bbp.2_Silent_p.L266L|KIAA0090_uc001bbq.2_Silent_p.L266L|KIAA0090_uc001bbr.2_Silent_p.L244L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	266	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
AKR7A2	8574	broad.mit.edu	37	1	19633822	19633822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19633822T>C	uc001bbw.2	-	4	696	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	AKR7A2_uc001bbx.2_Missense_Mutation_p.Y190C	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	225					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19653883	19653883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19653883G>A	uc001bby.2	+	8	1133	c.781G>A	c.(781-783)GGC>AGC	p.G261S	PQLC2_uc001bbz.2_Missense_Mutation_p.G196S|PQLC2_uc001bca.2_Missense_Mutation_p.G261S|PQLC2_uc001bcb.2_Missense_Mutation_p.G150S|PQLC2_uc001bcc.2_Missense_Mutation_p.G150S	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	261	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19655099	19655099	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19655099A>G	uc001bby.2	+	9	1190	c.838A>G	c.(838-840)ACC>GCC	p.T280A	PQLC2_uc001bbz.2_Missense_Mutation_p.T215A|PQLC2_uc001bca.2_Missense_Mutation_p.T280A|PQLC2_uc001bcb.2_Missense_Mutation_p.T169A|PQLC2_uc001bcc.2_Missense_Mutation_p.T169A	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	280	Cytoplasmic (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
OTUD3	23252	broad.mit.edu	37	1	20233069	20233069	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20233069C>A	uc001bcs.3	+	7	1099	c.980C>A	c.(979-981)CCT>CAT	p.P327H		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	327											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PLA2G2C	391013	broad.mit.edu	37	1	20490512	20490512	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20490512C>A	uc009vpq.1	-	3	425	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21044008	21044008	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21044008G>A	uc001bdr.3	-	1	310	c.192C>T	c.(190-192)ACC>ACT	p.T64T	KIF17_uc001bds.3_Silent_p.T64T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	64	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---
HP1BP3	50809	broad.mit.edu	37	1	21097562	21097562	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21097562C>A	uc001bdw.1	-	6	655	c.515G>T	c.(514-516)TGC>TTC	p.C172F	HP1BP3_uc001bdv.1_Missense_Mutation_p.C134F|HP1BP3_uc010odh.1_Missense_Mutation_p.C134F|HP1BP3_uc001bdy.1_Missense_Mutation_p.C172F|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.C171F|HP1BP3_uc010odg.1_Missense_Mutation_p.C20F	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	172	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21144005	21144005	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21144005A>T	uc001bec.2	-	29	4483	c.4227T>A	c.(4225-4227)AGT>AGA	p.S1409R	EIF4G3_uc010odi.1_Missense_Mutation_p.S1013R|EIF4G3_uc010odj.1_Missense_Mutation_p.S1408R|EIF4G3_uc009vpz.2_Missense_Mutation_p.S1129R|EIF4G3_uc001bed.2_Missense_Mutation_p.S1409R|EIF4G3_uc001bef.2_Missense_Mutation_p.S1445R|EIF4G3_uc001bee.2_Missense_Mutation_p.S1415R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1409					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21226422	21226422	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21226422C>A	uc001bec.2	-	11	1855	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D	EIF4G3_uc010odi.1_Missense_Mutation_p.E137D|EIF4G3_uc010odj.1_Missense_Mutation_p.E532D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E253D|EIF4G3_uc001bed.2_Missense_Mutation_p.E533D|EIF4G3_uc001bef.2_Missense_Mutation_p.E532D|EIF4G3_uc001bee.2_Missense_Mutation_p.E539D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	533					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
ALPL	249	broad.mit.edu	37	1	21887136	21887136	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21887136A>G	uc001bet.2	+	3	336	c.79A>G	c.(79-81)AAG>GAG	p.K27E	ALPL_uc010odn.1_5'UTR|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_5'UTR|ALPL_uc001beu.3_Missense_Mutation_p.K27E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	27					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)													---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21934800	21934800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21934800A>G	uc001bex.2	-	17	1460	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	RAP1GAP_uc001bev.2_Missense_Mutation_p.L401P|RAP1GAP_uc001bew.2_Missense_Mutation_p.L465P|RAP1GAP_uc001bey.2_Missense_Mutation_p.L401P	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	401					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936606	21936606	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21936606C>T	uc001bex.2	-						RAP1GAP_uc001bev.2_Intron|RAP1GAP_uc001bew.2_Intron|RAP1GAP_uc001bey.2_Intron	NM_002885	NP_002876			RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
LDLRAD2	401944	broad.mit.edu	37	1	22147988	22147988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22147988C>T	uc001bfg.1	+	4	876	c.689C>T	c.(688-690)ACC>ATC	p.T230I	LDLRAD2_uc001bfh.1_RNA	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	230	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)														---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22150131	22150131	+	Silent	SNP	G	A	A	rs147161785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22150131G>A	uc001bfj.2	-	96	13021	c.12981C>T	c.(12979-12981)AAC>AAT	p.N4327N	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.N344N|HSPG2_uc009vqd.2_Silent_p.N4328N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4327	Laminin G-like 3.			N->A: Retains proper folding. Reduced calcium ion binding.	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	A	A	rs146179360	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22154901G>A	uc001bfj.2	-	89	12296	c.12256C>T	c.(12256-12258)CGG>TGG	p.R4086W	HSPG2_uc001bfi.2_Missense_Mutation_p.R103W|HSPG2_uc009vqd.2_Missense_Mutation_p.R4087W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22832620	22832620	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22832620A>G	uc001bft.2	+	7	1757	c.1246A>G	c.(1246-1248)ACG>GCG	p.T416A	ZBTB40_uc001bfu.2_Missense_Mutation_p.T416A|ZBTB40_uc009vqi.1_Missense_Mutation_p.T304A|ZBTB40_uc001bfv.1_Missense_Mutation_p.T45A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	416					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)														---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22924701	22924701	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22924701T>C	uc001bfx.1	+	12	2299	c.2174T>C	c.(2173-2175)CTG>CCG	p.L725P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
C1QA	712	broad.mit.edu	37	1	22964157	22964157	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22964157G>A	uc001bfy.2	+	2	133	c.48G>A	c.(46-48)TCG>TCA	p.S16S	C1QA_uc001bfz.2_Silent_p.S16S	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	16					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974134	22974134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22974134C>T	uc001bgc.3	+	3	699	c.596C>T	c.(595-597)ACC>ATC	p.T199I	C1QC_uc001bga.3_Missense_Mutation_p.T199I|C1QC_uc001bgb.2_Missense_Mutation_p.T199I	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	199	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23107938	23107938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23107938C>T	uc009vqj.1	+	2	231	c.86C>T	c.(85-87)GCG>GTG	p.A29V	EPHB2_uc001bge.2_Missense_Mutation_p.A29V|EPHB2_uc001bgf.2_Missense_Mutation_p.A29V|EPHB2_uc010odu.1_Missense_Mutation_p.A29V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	29	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23405623	23405623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23405623T>C	uc001bgi.2	+	15	2085	c.1936T>C	c.(1936-1938)TGG>CGG	p.W646R	KDM1A_uc001bgj.2_Missense_Mutation_p.W670R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	646	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2																		---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23420507	23420507	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23420507T>A	uc001bgk.2	-	4	632	c.248A>T	c.(247-249)AAG>ATG	p.K83M	LUZP1_uc010odv.1_Missense_Mutation_p.K83M|LUZP1_uc001bgl.2_Missense_Mutation_p.K83M|LUZP1_uc001bgm.1_Missense_Mutation_p.K83M	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	83	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)														---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23758207	23758207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23758207T>C	uc001bha.2	-	23	2652	c.2528A>G	c.(2527-2529)TAC>TGC	p.Y843C	ASAP3_uc001bgy.1_Missense_Mutation_p.Y347C|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Y733C|ASAP3_uc010oea.1_Missense_Mutation_p.Y834C|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	843					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
E2F2	1870	broad.mit.edu	37	1	23842920	23842920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23842920G>A	uc001bhe.1	-	6	1380	c.952C>T	c.(952-954)CTC>TTC	p.L318F		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	318					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078489	24078489	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24078489C>T	uc001bho.2	+	4	1532	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	491					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)												OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24080852	24080852	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24080852G>T	uc001bho.2	+	7	1832	c.1772_splice	c.e7-1	p.S591_splice		NM_003198	NP_003189			elongin A						positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)														---	---	---	---
C1orf128	57095	broad.mit.edu	37	1	24113772	24113772	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24113772G>A	uc001bhq.2	+	6	672	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	C1orf128_uc010oeb.1_Missense_Mutation_p.R88Q	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	181	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24419453	24419453	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24419453G>T	uc001bin.3	-	10	1237	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	MYOM3_uc001bim.3_Silent_p.T15T|MYOM3_uc001bio.2_Silent_p.T358T|MYOM3_uc001bip.1_Silent_p.T15T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	358	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24432516	24432516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24432516G>A	uc001bin.3	-	5	617	c.454C>T	c.(454-456)CGC>TGC	p.R152C	MYOM3_uc001bio.2_Missense_Mutation_p.R152C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	152										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24673056	24673056	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24673056C>T	uc001biy.2	+	13	1529	c.1483C>T	c.(1483-1485)CGT>TGT	p.R495C	GRHL3_uc001bix.2_Missense_Mutation_p.R490C|GRHL3_uc001biz.2_Missense_Mutation_p.R397C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	490					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	26104818	26104818	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26104818A>G	uc001bkm.2	+						MAN1C1_uc009vry.1_Intron|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112			mannosidase, alpha, class 1C, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)														---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26135604	26135604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26135604A>G	uc010oer.1	+	8	890	c.835A>G	c.(835-837)ACT>GCT	p.T279A	SEPN1_uc010oes.1_Missense_Mutation_p.T245A	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	279						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PAQR7	164091	broad.mit.edu	37	1	26189996	26189996	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26189996A>C	uc001bkx.2	-	2	1002	c.335T>G	c.(334-336)CTT>CGT	p.L112R		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	112	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524554	26524554	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26524554C>A	uc010oez.1	+	5	664	c.664C>A	c.(664-666)CTC>ATC	p.L222I	CATSPER4_uc010oey.1_Missense_Mutation_p.L44I|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	222	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26663751	26663751	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26663751A>T	uc001bmd.3	-	9	1059	c.629T>A	c.(628-630)ATC>AAC	p.I210N	AIM1L_uc001bmf.3_Missense_Mutation_p.I101N	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	210	Beta/gamma crystallin 'Greek key' 4.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26672211	26672211	+	5'Flank	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26672211G>A	uc001bmd.3	-						uc009vsi.1_Missense_Mutation_p.P313L	NM_001039775	NP_001034864			absent in melanoma 1-like								sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
ZNF683	257101	broad.mit.edu	37	1	26691013	26691013	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26691013A>C	uc001bmg.1	-						ZNF683_uc001bmh.1_Intron|ZNF683_uc009vsj.1_Intron	NM_173574	NP_775845			zinc finger protein 683						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)														---	---	---	---
DHDDS	79947	broad.mit.edu	37	1	26759503	26759503	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26759503A>G	uc001bml.2	+						DHDDS_uc001bmk.2_Intron|DHDDS_uc001bmm.2_Intron|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Intron	NM_205861	NP_995583			dehydrodolichyl diphosphate synthase isoform b								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26878189	26878189	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26878189A>T	uc001bmr.1	+	6	606	c.443A>T	c.(442-444)GAC>GTC	p.D148V	RPS6KA1_uc010ofe.1_Missense_Mutation_p.D56V|RPS6KA1_uc010off.1_Missense_Mutation_p.D132V|RPS6KA1_uc001bms.1_Missense_Mutation_p.D157V|RPS6KA1_uc009vsl.1_5'UTR|MIR1976_hsa-mir-1976|MI0009986_5'Flank	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26887635	26887635	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26887635G>A	uc001bmr.1	+						RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Intron|RPS6KA1_uc001bms.1_Intron|RPS6KA1_uc009vsl.1_Intron	NM_002953	NP_002944			ribosomal protein S6 kinase, 90kDa, polypeptide						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058102	27058102	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27058102T>C	uc001bmv.1	+						ARID1A_uc001bmt.1_Intron|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Intron	NM_006015	NP_006006			AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105591	27105591	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105591T>C	uc001bmv.1	+	20	5575	c.5202T>C	c.(5200-5202)TAT>TAC	p.Y1734Y	ARID1A_uc001bmu.1_Silent_p.Y1517Y|ARID1A_uc001bmx.1_Silent_p.Y580Y|ARID1A_uc009vsm.1_Silent_p.Y62Y|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1734*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
ZDHHC18	84243	broad.mit.edu	37	1	27176863	27176863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27176863T>C	uc001bnb.2	+	4	813	c.718T>C	c.(718-720)TTT>CTT	p.F240L	ZDHHC18_uc010ofh.1_Missense_Mutation_p.F105L	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	240	Helical; (Potential).|DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)														---	---	---	---
GPATCH3	63906	broad.mit.edu	37	1	27218931	27218931	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27218931G>T	uc001bne.2	-	6	1361	c.1332C>A	c.(1330-1332)GGC>GGA	p.G444G	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Silent_p.G255G	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	444	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27436202	27436202	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27436202C>T	uc001bnm.2	-	3	1506	c.880G>A	c.(880-882)GGC>AGC	p.G294S	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G294S	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	294	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)													---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27688704	27688704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27688704G>T	uc001bny.1	-	9	1542	c.1293C>A	c.(1291-1293)TGC>TGA	p.C431*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.C423*|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	431					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
C1orf38	9473	broad.mit.edu	37	1	28209562	28209562	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28209562T>C	uc001bpc.3	+						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Intron	NM_001105556	NP_001099026			basement membrane-induced gene isoform 3						cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
DNAJC8	22826	broad.mit.edu	37	1	28530265	28530265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28530265T>G	uc001bpn.2	-	8	665	c.632A>C	c.(631-633)AAC>ACC	p.N211T	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	211					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28607245	28607245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28607245C>T	uc001bps.2	+	10	1728	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	459					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28802790	28802790	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28802790T>C	uc001bpw.2	+	8	1875	c.1593T>C	c.(1591-1593)GAT>GAC	p.D531D	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.D515D|PHACTR4_uc001bpy.2_Silent_p.D541D	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	531							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819589	28819589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819589C>T	uc001bpw.2	+	13	2361	c.2079C>T	c.(2077-2079)AGC>AGT	p.S693S	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.S677S|PHACTR4_uc001bpy.2_Silent_p.S703S|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	693							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28819605	28819605	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28819605T>G	uc001bpw.2	+	13	2375	c.2093_splice	c.e13+2	p.R698_splice	PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.R682_splice|PHACTR4_uc001bpy.2_Splice_Site_p.R708_splice|PHACTR4_uc001bpz.2_Splice_Site	NM_001048183	NP_001041648			phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28897682	28897682	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28897682T>G	uc001bqi.2	+						TRNAU1AP_uc001bqh.2_Intron|TRNAU1AP_uc010ofw.1_Intron	NM_017846	NP_060316			tRNA selenocysteine associated protein 1						selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
OPRD1	4985	broad.mit.edu	37	1	29189408	29189408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29189408C>T	uc001brf.1	+	3	974	c.732C>T	c.(730-732)CGC>CGT	p.R244R		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	244	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)													---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29314014	29314014	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29314014G>A	uc001brm.1	+	1	72	c.65G>A	c.(64-66)GGT>GAT	p.G22D	EPB41_uc001brg.1_Translation_Start_Site|EPB41_uc001brh.1_Translation_Start_Site|EPB41_uc001bri.1_Missense_Mutation_p.G22D|EPB41_uc001brj.1_Translation_Start_Site|EPB41_uc009vtk.1_Missense_Mutation_p.G22D|EPB41_uc001brk.2_Missense_Mutation_p.G22D|EPB41_uc001brl.1_Missense_Mutation_p.G22D|EPB41_uc009vtl.1_Translation_Start_Site|EPB41_uc009vtm.1_Translation_Start_Site	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	22					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)														---	---	---	---
SFRS4	6429	broad.mit.edu	37	1	29475243	29475243	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29475243C>T	uc001bro.2	-	6	1537	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	388	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29522739	29522739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29522739T>C	uc001brq.1	-	8	898	c.862A>G	c.(862-864)ATG>GTG	p.M288V	MECR_uc001brp.1_Missense_Mutation_p.M212V|MECR_uc001brr.1_Missense_Mutation_p.M212V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	288					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29542532	29542532	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29542532C>A	uc001brq.1	-	3	427	c.391G>T	c.(391-393)GCA>TCA	p.A131S	MECR_uc001brp.1_Missense_Mutation_p.A55S|MECR_uc001brr.1_Missense_Mutation_p.A55S|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.A55S|MECR_uc010ofz.1_Missense_Mutation_p.A131S	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	131					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29611288	29611288	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29611288C>A	uc001bru.2	+	14	2335	c.2225C>A	c.(2224-2226)TCG>TAG	p.S742*	PTPRU_uc001brv.2_Nonsense_Mutation_p.S742*|PTPRU_uc001brw.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtq.2_Nonsense_Mutation_p.S742*|PTPRU_uc009vtr.2_Nonsense_Mutation_p.S742*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	742	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29618439	29618439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29618439A>T	uc001bru.2	+	16	2517	c.2407A>T	c.(2407-2409)ATG>TTG	p.M803L	PTPRU_uc001brv.2_Missense_Mutation_p.M793L|PTPRU_uc001brw.2_Missense_Mutation_p.M793L|PTPRU_uc009vtq.2_Missense_Mutation_p.M793L|PTPRU_uc009vtr.2_Missense_Mutation_p.M793L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	803	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31479866	31479866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31479866C>T	uc001bsi.1	-	4	629	c.516G>A	c.(514-516)TGG>TGA	p.W172*	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Nonsense_Mutation_p.W172*|PUM1_uc001bsj.1_Nonsense_Mutation_p.W172*|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Nonsense_Mutation_p.W208*|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	172					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
BAI2	576	broad.mit.edu	37	1	32222059	32222059	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32222059G>A	uc001btn.2	-	4	733	c.379C>T	c.(379-381)CGG>TGG	p.R127W	BAI2_uc010ogp.1_Missense_Mutation_p.R115W|BAI2_uc010ogq.1_Missense_Mutation_p.R127W|BAI2_uc001bto.2_Missense_Mutation_p.R127W|BAI2_uc001btq.1_Missense_Mutation_p.R115W|BAI2_uc010ogr.1_Missense_Mutation_p.R115W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	127	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)														---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503449	32503449	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32503449G>T	uc001bub.2	+	6	1025	c.919G>T	c.(919-921)GGA>TGA	p.G307*	KHDRBS1_uc001bua.1_Nonsense_Mutation_p.G268*|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	307	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32635510	32635510	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32635510A>G	uc001bug.2	+	13	1360	c.1272A>G	c.(1270-1272)AAA>AAG	p.K424K	KPNA6_uc001buh.2_Silent_p.K199K|KPNA6_uc010ogx.1_Silent_p.K421K|KPNA6_uc010ogy.1_Silent_p.K429K|KPNA6_uc009vtz.2_Silent_p.K319K	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	424	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
EIF3I	8668	broad.mit.edu	37	1	32696575	32696575	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32696575A>G	uc001bur.3	+	11	1384	c.851A>G	c.(850-852)CAC>CGC	p.H284R	EIF3I_uc009vuc.2_Missense_Mutation_p.H284R|EIF3I_uc001bus.2_Missense_Mutation_p.H236R	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	284	WD 5.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)																---	---	---	---
TSSK3	81629	broad.mit.edu	37	1	32829415	32829415	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32829415T>C	uc001bvf.2	+	2	806	c.365T>C	c.(364-366)ATC>ACC	p.I122T	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	122	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)																---	---	---	---
RBBP4	5928	broad.mit.edu	37	1	33134616	33134616	+	Missense_Mutation	SNP	A	G	G	rs77147900		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33134616A>G	uc001bvr.2	+	6	803	c.644A>G	c.(643-645)AAA>AGA	p.K215R	RBBP4_uc001bvs.2_Missense_Mutation_p.K214R|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.K180R	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	215					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)																---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33237888	33237888	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33237888C>A	uc001bvv.2	+	6	3067	c.2931C>A	c.(2929-2931)CCC>CCA	p.P977P	KIAA1522_uc001bvu.1_Silent_p.P1036P|KIAA1522_uc010ohm.1_Silent_p.P988P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	977	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34015866	34015866	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34015866C>T	uc001bxn.1	-	55	8425	c.8396G>A	c.(8395-8397)AGC>AAC	p.S2799N	CSMD2_uc001bxm.1_Missense_Mutation_p.S2943N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2799	Sushi 19.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035106	34035106	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34035106G>A	uc001bxn.1	-	53	8034	c.8005C>T	c.(8005-8007)CGC>TGC	p.R2669C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2667C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2669	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34071528	34071528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34071528T>C	uc001bxn.1	-	42	6313	c.6284A>G	c.(6283-6285)GAA>GGA	p.E2095G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2095	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34667751	34667751	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34667751A>G	uc001bxs.3	+	4	1166	c.767A>G	c.(766-768)CAC>CGC	p.H256R	C1orf94_uc001bxt.2_Missense_Mutation_p.H446R	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	256							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GJB3	2707	broad.mit.edu	37	1	35250919	35250919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35250919A>G	uc001bxx.2	+	2	1171	c.556A>G	c.(556-558)ATC>GTC	p.I186V	GJB3_uc001bxy.2_Missense_Mutation_p.I186V|GJB3_uc001bxz.3_Missense_Mutation_p.I186V|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	186	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35332721	35332721	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35332721G>A	uc001byc.2	-	9	2649	c.2649C>T	c.(2647-2649)ATC>ATT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)														OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370394	35370394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35370394C>T	uc001byc.2	-	1	591	c.591G>A	c.(589-591)GGG>GGA	p.G197G		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	197					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35851205	35851205	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35851205T>C	uc001byt.2	+						ZMYM4_uc009vuu.2_Intron|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Intron	NM_005095	NP_005086			zinc finger protein 262						multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36203686	36203686	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36203686T>C	uc001bzi.2	-	22	3651	c.3571A>G	c.(3571-3573)AAA>GAA	p.K1191E	CLSPN_uc009vux.2_Missense_Mutation_p.K1127E	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1191					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36563431	36563431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36563431G>A	uc001bzv.1	-	2	1858	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	COL8A2_uc001bzw.1_Silent_p.G552G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	617	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36645561	36645561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36645561G>A	uc001bzz.2	+	16	2624	c.2408G>A	c.(2407-2409)GGA>GAA	p.G803E	MAP7D1_uc001caa.2_Missense_Mutation_p.G770E|MAP7D1_uc001cab.2_Missense_Mutation_p.G765E|MAP7D1_uc001cac.2_Missense_Mutation_p.G502E|MAP7D1_uc001cad.2_Missense_Mutation_p.G339E	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	803						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)																---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755361	36755361	+	Missense_Mutation	SNP	G	A	A	rs143670803	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36755361G>A	uc001cae.3	+	5	1965	c.1741G>A	c.(1741-1743)GCA>ACA	p.A581T	THRAP3_uc001caf.3_Missense_Mutation_p.A581T|THRAP3_uc001cag.1_Missense_Mutation_p.A581T	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	581					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36757116	36757116	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36757116A>G	uc001cae.3	+	6	2111	c.1887A>G	c.(1885-1887)CAA>CAG	p.Q629Q	THRAP3_uc001caf.3_Silent_p.Q629Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	629					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36769439	36769439	+	Missense_Mutation	SNP	C	T	T	rs141044799		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36769439C>T	uc001cae.3	+	12	2913	c.2689C>T	c.(2689-2691)CGG>TGG	p.R897W	THRAP3_uc001caf.3_Missense_Mutation_p.R897W|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	897					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---
C1orf113	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36785374C>T	uc010oia.1	+	14	1138	c.1110C>T	c.(1108-1110)AAC>AAT	p.N370N	C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	254											0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
MEAF6	64769	broad.mit.edu	37	1	37975066	37975066	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37975066G>A	uc001cbg.1	-	3	301	c.284C>T	c.(283-285)ACC>ATC	p.T95I	MEAF6_uc001cbd.1_Missense_Mutation_p.T73I|MEAF6_uc001cbe.1_Missense_Mutation_p.T95I|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.T95I	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	95					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding				0																		---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006093	38006093	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006093A>G	uc001cbi.2	-	3	664	c.591T>C	c.(589-591)GGT>GGC	p.G197G	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	197					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38006337	38006337	+	Missense_Mutation	SNP	C	A	A	rs80144754	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38006337C>A	uc001cbi.2	-	3	420	c.347G>T	c.(346-348)CGG>CTG	p.R116L	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	116	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
DNALI1	7802	broad.mit.edu	37	1	38023220	38023220	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38023220T>C	uc001cbj.2	+	2	174	c.164T>C	c.(163-165)GTC>GCC	p.V55A	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	33					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38048476	38048476	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38048476C>T	uc001cbk.2	-	7	861	c.698G>A	c.(697-699)CGT>CAT	p.R233H	GNL2_uc010oif.1_Missense_Mutation_p.R74H	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	233					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38053053	38053053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38053053G>A	uc001cbk.2	-	5	591	c.428C>T	c.(427-429)ACA>ATA	p.T143I	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Intron	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	143					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38188974	38188974	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38188974C>T	uc009vvi.2	-						EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_Intron	NM_001099439	NP_001092909			EPH receptor A10 isofom 3							extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265387	38265387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38265387C>T	uc001cby.2	+	4	967	c.886C>T	c.(886-888)CCC>TCC	p.P296S	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.P74S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	296	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
FHL3	2275	broad.mit.edu	37	1	38463130	38463130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38463130C>T	uc001ccj.2	-	6	877	c.790G>A	c.(790-792)GTA>ATA	p.V264I	FHL3_uc001cck.2_Missense_Mutation_p.V264I|FHL3_uc001ccl.2_Silent_p.S262S|FHL3_uc001ccm.2_Missense_Mutation_p.V156I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	264	LIM zinc-binding 4.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341489	39341489	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39341489G>A	uc001cct.1	-	2	563	c.282C>T	c.(280-282)GGC>GGT	p.G94G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	94	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39750744	39750744	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39750744A>T	uc010ois.1	+						MACF1_uc001cda.1_Intron	NM_012090	NP_036222			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39765892	39765892	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39765892A>T	uc010ois.1	+	23	2712	c.2507A>T	c.(2506-2508)GAG>GTG	p.E836V	MACF1_uc001cda.1_Missense_Mutation_p.E744V|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	836					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39796951	39796951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39796951G>A	uc010oiu.1	+	1	142	c.11G>A	c.(10-12)GGC>GAC	p.G4D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1569					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798124	39798124	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39798124C>G	uc010oiu.1	+	1	1315	c.1184C>G	c.(1183-1185)GCC>GGC	p.A395G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1960					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39844182	39844182	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39844182C>T	uc010oiu.1	+	17	8714	c.8583C>T	c.(8581-8583)TAC>TAT	p.Y2861Y	MACF1_uc010ois.1_Silent_p.Y2359Y|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4426					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39854290	39854290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39854290C>T	uc010oiu.1	+	22	11227	c.11096C>T	c.(11095-11097)ACC>ATC	p.T3699I	MACF1_uc010ois.1_Missense_Mutation_p.T3197I|MACF1_uc001cda.1_Missense_Mutation_p.T3084I|MACF1_uc001cdc.1_Missense_Mutation_p.T2263I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5264	Spectrin 6.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39950269	39950269	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39950269T>A	uc010oiu.1	+						MACF1_uc010ois.1_Intron|MACF1_uc001cde.1_Intron|MACF1_uc001cdf.1_Intron|MACF1_uc001cdg.2_Intron|MACF1_uc001cdh.2_Intron	NM_033044	NP_149033			microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
BMP8B	656	broad.mit.edu	37	1	40226088	40226088	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40226088G>A	uc001cdz.1	-	7					PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	NM_001720	NP_001711			bone morphogenetic protein 8B preproprotein						cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---
MYCL1	4610	broad.mit.edu	37	1	40363565	40363565	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40363565G>A	uc001cer.1	-	3	791	c.574C>T	c.(574-576)CGA>TGA	p.R192*	MYCL1_uc001ces.1_Nonsense_Mutation_p.R192*	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)					A		small cell lung 								---	---	---	---
CAP1	10487	broad.mit.edu	37	1	40535427	40535427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40535427C>A	uc001cfa.3	+	9	1103	c.874C>A	c.(874-876)CCA>ACA	p.P292T	CAP1_uc001cey.3_Missense_Mutation_p.P292T|CAP1_uc001cez.3_Missense_Mutation_p.P292T|CAP1_uc009vvz.2_Missense_Mutation_p.P292T|CAP1_uc010oje.1_Missense_Mutation_p.P209T	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	292					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
RLF	6018	broad.mit.edu	37	1	40703531	40703531	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40703531A>C	uc001cfc.3	+	8	3188	c.3157A>C	c.(3157-3159)AGG>CGG	p.R1053R	RLF_uc001cfd.3_Silent_p.R744R	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)															---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40747087	40747087	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40747087A>T	uc001cfg.2	+	7	1053	c.842A>T	c.(841-843)GAC>GTC	p.D281V		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	281						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40879909	40879909	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40879909C>A	uc001cfj.2	+	6	633	c.568C>A	c.(568-570)CTT>ATT	p.L190I	SMAP2_uc010ojh.1_Missense_Mutation_p.L190I|SMAP2_uc001cfk.2_Missense_Mutation_p.L160I|SMAP2_uc010oji.1_Missense_Mutation_p.L107I|SMAP2_uc010ojj.1_Missense_Mutation_p.L6I	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	190	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40881883	40881883	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40881883C>T	uc001cfj.2	+	8	782	c.717C>T	c.(715-717)GGC>GGT	p.G239G	SMAP2_uc010ojh.1_Silent_p.G239G|SMAP2_uc001cfk.2_Silent_p.G209G|SMAP2_uc010oji.1_Silent_p.G156G|SMAP2_uc010ojj.1_Silent_p.G55G	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	239					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40981037	40981037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981037T>C	uc001cfp.2	+	3	1026	c.821T>C	c.(820-822)CTT>CCT	p.L274P	DEM1_uc001cfq.2_Missense_Mutation_p.L274P|DEM1_uc001cfr.2_Missense_Mutation_p.L274P|DEM1_uc001cfs.2_Missense_Mutation_p.L274P	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	274							DNA binding|exonuclease activity				0																		---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41250028	41250028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41250028A>G	uc001cgh.1	+	1	345	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	KCNQ4_uc001cgi.1_Missense_Mutation_p.Y88C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	88	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)															---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41990484	41990484	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41990484G>A	uc001cgz.3	-	6	6518	c.5305C>T	c.(5305-5307)CTG>TTG	p.L1769L	HIVEP3_uc001cha.3_Silent_p.L1769L|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1769	C2H2-type 4.|ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046233	42046233	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046233T>C	uc001cgz.3	-	4	5449	c.4236A>G	c.(4234-4236)TCA>TCG	p.S1412S	HIVEP3_uc001cha.3_Silent_p.S1412S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42046988	42046988	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42046988C>A	uc001cgz.3	-	4	4694	c.3481G>T	c.(3481-3483)GAA>TAA	p.E1161*	HIVEP3_uc001cha.3_Nonsense_Mutation_p.E1161*|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048796	42048796	+	Missense_Mutation	SNP	C	T	T	rs143274774		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048796C>T	uc001cgz.3	-	4	2886	c.1673G>A	c.(1672-1674)CGA>CAA	p.R558Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R558Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	558	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
FOXJ3	22887	broad.mit.edu	37	1	42664883	42664883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42664883C>T	uc001che.2	-	9	961	c.649G>A	c.(649-651)GAT>AAT	p.D217N	FOXJ3_uc001chf.2_Missense_Mutation_p.D217N|FOXJ3_uc001chg.2_Missense_Mutation_p.D217N|FOXJ3_uc001chh.1_Missense_Mutation_p.D183N	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	217					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
YBX1	4904	broad.mit.edu	37	1	43149140	43149140	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43149140G>T	uc001chs.2	+							NM_004559	NP_004550			nuclease sensitive element binding protein 1						CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43212614	43212614	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43212614T>C	uc001chv.2	-						LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chx.3_Missense_Mutation_p.N795S	NM_022356	NP_071751			leprecan 1 isoform 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43213016	43213016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43213016A>G	uc001chv.2	-	14	2095	c.1982T>C	c.(1981-1983)GTG>GCG	p.V661A	LEPRE1_uc001chw.2_Missense_Mutation_p.V661A|LEPRE1_uc001chx.3_Missense_Mutation_p.V661A	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	661	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43396858	43396858	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43396858T>C	uc001cik.2	-	3	659	c.134A>G	c.(133-135)AAC>AGC	p.N45S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	45	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMEM125	128218	broad.mit.edu	37	1	43738912	43738912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43738912C>T	uc001cir.2	+	4	1089	c.519C>T	c.(517-519)AGC>AGT	p.S173S	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.S173S	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	173						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43777979	43777979	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43777979C>A	uc001ciu.2	+	12	1713	c.1634C>A	c.(1633-1635)CCT>CAT	p.P545H	TIE1_uc010okd.1_Missense_Mutation_p.P545H|TIE1_uc010oke.1_Missense_Mutation_p.P500H|TIE1_uc009vwq.2_Missense_Mutation_p.P501H|TIE1_uc010okf.1_Missense_Mutation_p.P190H|TIE1_uc010okg.1_Missense_Mutation_p.P190H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	545	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43903371	43903371	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43903371G>A	uc001cjk.1	+	30	4161	c.3699G>A	c.(3697-3699)TCG>TCA	p.S1233S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2132						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43908489	43908489	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43908489G>T	uc001cjk.1	+	44	5917	c.5455_splice	c.e44-1	p.E1819_splice		NM_015284	NP_056099			hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056821	44056821	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056821T>C	uc001cjr.2	+	9	1468	c.1128T>C	c.(1126-1128)ATT>ATC	p.I376I	PTPRF_uc001cjs.2_Silent_p.I376I|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	376	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056913G>A	uc001cjr.2	+	9	1560	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	PTPRF_uc001cjs.2_Missense_Mutation_p.R407H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44063488	44063488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44063488T>C	uc001cjr.2	+	12	2223	c.1883T>C	c.(1882-1884)GTC>GCC	p.V628A	PTPRF_uc001cjs.2_Missense_Mutation_p.V628A|PTPRF_uc001cju.2_Missense_Mutation_p.V199A|PTPRF_uc009vwt.2_Missense_Mutation_p.V199A|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	628	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44075099	44075099	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44075099A>T	uc001cjr.2	+	22	4243	c.3903A>T	c.(3901-3903)GGA>GGT	p.G1301G	PTPRF_uc001cjs.2_Silent_p.G1292G|PTPRF_uc001cju.2_Silent_p.G679G|PTPRF_uc009vwt.2_Silent_p.G861G|PTPRF_uc001cjv.2_Silent_p.G761G|PTPRF_uc001cjw.2_Silent_p.G527G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1301	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
ATP6V0B	533	broad.mit.edu	37	1	44442793	44442793	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44442793G>A	uc001cld.2	+	7	607	c.496G>A	c.(496-498)GAT>AAT	p.D166N	ATP6V0B_uc001clc.2_Missense_Mutation_p.D166N|ATP6V0B_uc001cle.2_Missense_Mutation_p.D119N|ATP6V0B_uc001clf.2_Missense_Mutation_p.D119N|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	166	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44458260	44458260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44458260G>T	uc001clj.2	+	4	539	c.368G>T	c.(367-369)AGG>ATG	p.R123M	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.R79M|CCDC24_uc009vxc.2_Missense_Mutation_p.R87M	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	123											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
CCDC24	149473	broad.mit.edu	37	1	44461664	44461664	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44461664C>T	uc001clj.2	+	9	927	c.756C>T	c.(754-756)TGC>TGT	p.C252C	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.A206V|CCDC24_uc009vxc.2_Silent_p.C216C	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	252											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292148	45292148	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45292148G>A	uc010olf.1	-						PTCH2_uc010olg.1_Intron	NM_003738	NP_003729			patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45474846	45474846	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45474846T>A	uc009vxk.2	-	7	1140	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.I64F|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	348	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
UROD	7389	broad.mit.edu	37	1	45479751	45479751	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45479751T>C	uc001cna.1	+						HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc001cnb.1_Intron|UROD_uc010olj.1_Silent_p.P159P|UROD_uc001cnc.1_Intron	NM_000374	NP_000365			uroporphyrinogen decarboxylase							cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)													Porphyria_Cutanea_Tarda_Type_II				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45797085	45797085	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45797085C>T	uc001cnm.2	-						MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Intron|MUTYH_uc009vxo.2_Intron|MUTYH_uc001cng.2_Intron|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Intron|MUTYH_uc001cnh.2_Intron|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Intron|MUTYH_uc009vxp.2_Intron|MUTYH_uc001cnn.2_Intron	NM_012222	NP_036354			mutY homolog isoform 1						depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45799172	45799172	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45799172G>A	uc001cnm.2	-	3	468	c.252C>T	c.(250-252)TTC>TTT	p.F84F	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Silent_p.F59F|MUTYH_uc009vxo.2_Silent_p.F59F|MUTYH_uc001cng.2_Silent_p.F70F|MUTYH_uc001cnj.2_Intron|MUTYH_uc001cni.2_Silent_p.F59F|MUTYH_uc001cnh.2_Silent_p.F60F|MUTYH_uc001cno.2_Intron|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.F73F|MUTYH_uc009vxp.2_Silent_p.F87F|MUTYH_uc001cnn.2_Silent_p.F74F	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	84					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
TOE1	114034	broad.mit.edu	37	1	45808899	45808899	+	Missense_Mutation	SNP	C	A	A	rs145913038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45808899C>A	uc009vxq.2	+	8	1641	c.1058C>A	c.(1057-1059)CCG>CAG	p.P353Q	MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	353						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46496749	46496749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46496749C>T	uc001cov.2	+	23	3062	c.2779C>T	c.(2779-2781)CGA>TGA	p.R927*	MAST2_uc001cow.2_Nonsense_Mutation_p.R927*|MAST2_uc001coy.1_Nonsense_Mutation_p.R601*|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	927					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46497992	46497992	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46497992T>G	uc001cov.2	+	25	3613	c.3330T>G	c.(3328-3330)GCT>GCG	p.A1110A	MAST2_uc001cow.2_Silent_p.A1110A|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1110	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46658844	46658844	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46658844A>G	uc001cpe.2	-	13	1316	c.1152_splice	c.e13+1	p.P384_splice	POMGNT1_uc010olx.1_Splice_Site_p.P362_splice|POMGNT1_uc010oly.1_Splice_Site|POMGNT1_uc010olz.1_Splice_Site_p.P241_splice|POMGNT1_uc001cpg.2_Splice_Site_p.P384_splice|POMGNT1_uc001cpf.2_Splice_Site_p.P51_splice|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_Splice_Site_p.P51_splice	NM_017739	NP_060209			O-linked mannose						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46726527	46726527	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46726527C>T	uc009vye.2	+	8	720	c.606C>T	c.(604-606)CGC>CGT	p.R202R	RAD54L_uc001cpl.2_Silent_p.R202R|RAD54L_uc001cpm.1_Silent_p.R22R	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	202	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46739122	46739122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46739122G>A	uc009vye.2	+	14	1585	c.1471G>A	c.(1471-1473)GAG>AAG	p.E491K	RAD54L_uc001cpl.2_Missense_Mutation_p.E491K|RAD54L_uc001cpm.1_Intron	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	491					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)									Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46876500	46876500	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46876500A>G	uc001cpu.2	+	11	1372	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	430					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)													---	---	---	---
ATPAF1	64756	broad.mit.edu	37	1	47101525	47101525	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47101525T>A	uc001cqh.2	-	9	1015	c.910A>T	c.(910-912)ATG>TTG	p.M304L	ATPAF1_uc001cqg.2_Missense_Mutation_p.M85L|ATPAF1_uc009vyk.2_Missense_Mutation_p.M153L|ATPAF1_uc010omg.1_Missense_Mutation_p.M216L|ATPAF1_uc001cqi.2_Missense_Mutation_p.M236L	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly	304					protein complex assembly	mitochondrion	protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
KIAA0494	9813	broad.mit.edu	37	1	47183713	47183713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47183713T>C	uc001cqk.3	-	1	1024	c.47A>G	c.(46-48)GAC>GGC	p.D16G	KIAA0494_uc010omh.1_Missense_Mutation_p.D16G|KIAA0494_uc001cql.1_Missense_Mutation_p.D16G	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	16							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47515714	47515714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47515714A>G	uc001cqt.2	+	12	1648	c.1398A>G	c.(1396-1398)GTA>GTG	p.V466V	CYP4X1_uc001cqr.2_Silent_p.V465V|CYP4X1_uc001cqs.2_Silent_p.V401V	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---
CYP4Z1	199974	broad.mit.edu	37	1	47564911	47564911	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47564911G>A	uc001cqu.1	+	8	1025	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	341	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1																		---	---	---	---
STIL	6491	broad.mit.edu	37	1	47716886	47716886	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47716886T>C	uc001crc.1	-	17	3941	c.3786A>G	c.(3784-3786)CTA>CTG	p.L1262L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1216L|STIL_uc010omo.1_Silent_p.L1245L|STIL_uc001crd.1_Silent_p.L1263L|STIL_uc001cre.1_Silent_p.L1262L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1262					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717182	47717182	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717182G>T	uc001crc.1	-	17	3645	c.3490C>A	c.(3490-3492)CTT>ATT	p.L1164I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1118I|STIL_uc010omo.1_Missense_Mutation_p.L1147I|STIL_uc001crd.1_Missense_Mutation_p.L1165I|STIL_uc001cre.1_Missense_Mutation_p.L1164I	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1164					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
STIL	6491	broad.mit.edu	37	1	47728569	47728569	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47728569T>C	uc001crc.1	-						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Intron|STIL_uc010omo.1_Intron|STIL_uc001crd.1_Intron|STIL_uc001cre.1_Intron|STIL_uc001crf.1_Intron|STIL_uc001crg.1_Intron	NM_003035	NP_003026			SCL/TAL1 interrupting locus isoform 2						cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
CMPK1	51727	broad.mit.edu	37	1	47840875	47840875	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47840875G>A	uc001cri.2	+	5	704	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	CMPK1_uc010omp.1_Silent_p.Q136Q|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	153					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)													---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48690420	48690420	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48690420A>T	uc001cro.2	+	2	239	c.187A>T	c.(187-189)ACC>TCC	p.T63S	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.T63S|SLC5A9_uc010omt.1_Missense_Mutation_p.T56S|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48703476	48703476	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48703476C>A	uc001cro.2	+	11	1470	c.1418C>A	c.(1417-1419)GCT>GAT	p.A473D	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A498D|SLC5A9_uc010omt.1_Missense_Mutation_p.A487D|SLC5A9_uc001crp.2_Missense_Mutation_p.A140D|SLC5A9_uc010omu.1_Missense_Mutation_p.A140D|SLC5A9_uc009vyt.1_5'Flank	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	473	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
FAF1	11124	broad.mit.edu	37	1	50956304	50956304	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:50956304A>G	uc009vyx.1	-	18	1672	c.1609T>C	c.(1609-1611)TTT>CTT	p.F537L	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.F537L|FAF1_uc010onc.1_Missense_Mutation_p.F295L	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	537					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)														---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52257781	52257781	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52257781A>G	uc001ctc.3	-						NRD1_uc009vzb.2_Intron|NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_Intron|NRD1_uc001ctf.2_Intron	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52343945	52343945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52343945A>G	uc001ctc.3	-						NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Intron|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516			nardilysin isoform a						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52729433	52729433	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52729433C>G	uc001cto.2	+						ZFYVE9_uc001ctn.2_Intron|ZFYVE9_uc001ctp.2_Intron	NM_004799	NP_004790			zinc finger, FYVE domain containing 9 isoform 3						endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8																		---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52826088	52826088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52826088C>T	uc001ctq.1	-						CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'Flank	NM_032449	NP_115825			coiled-coil and C2 domain containing 1B											ovary(2)	2																		---	---	---	---
ORC1L	4998	broad.mit.edu	37	1	52838930	52838930	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52838930T>C	uc001ctt.2	-	17	2728	c.2509A>G	c.(2509-2511)AGC>GGC	p.S837G	ORC1L_uc010oni.1_Missense_Mutation_p.S832G|ORC1L_uc001ctu.2_Missense_Mutation_p.S837G|ORC1L_uc009vzd.2_Missense_Mutation_p.S591G	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	837	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---
PRPF38A	84950	broad.mit.edu	37	1	52881054	52881054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52881054G>A	uc001ctv.3	+	9	1095	c.892G>A	c.(892-894)GAA>AAA	p.E298K	PRPF38A_uc001ctw.3_Silent_p.P108P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	298					mRNA processing|RNA splicing	spliceosomal complex					0																		---	---	---	---
GPX7	2882	broad.mit.edu	37	1	53072522	53072522	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53072522G>A	uc001cue.2	+	2	344	c.305G>A	c.(304-306)AGC>AAC	p.S102N		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	102					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)													---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53236726	53236726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53236726G>A	uc001cuj.2	+	3	426	c.231G>A	c.(229-231)AGG>AGA	p.R77R	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.R68R	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	77							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53245640	53245640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53245640A>G	uc001cuj.2	+	4	1262	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.E347G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	356							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53279576	53279576	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53279576A>G	uc001cuj.2	+	12	2133	c.1938A>G	c.(1936-1938)GTA>GTG	p.V646V	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.V567V|ZYG11B_uc009vzh.2_Silent_p.V68V	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	646							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53282239	53282239	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53282239T>C	uc001cuj.2	+	13	2177	c.1982T>C	c.(1981-1983)TTC>TCC	p.F661S	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.F582S|ZYG11B_uc009vzh.2_Missense_Mutation_p.F83S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	661							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
SCP2	6342	broad.mit.edu	37	1	53427303	53427303	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53427303T>A	uc001cur.1	+	6	644	c.523_splice	c.e6+2	p.G175_splice	SCP2_uc001cus.1_Splice_Site|SCP2_uc010ono.1_Splice_Site_p.G94_splice|SCP2_uc010onp.1_Splice_Site_p.G151_splice|SCP2_uc009vzi.1_Splice_Site_p.G131_splice|SCP2_uc001cuq.1_Splice_Site_p.G131_splice	NM_002979	NP_002970			sterol carrier protein 2 isoform 1 proprotein						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1																		---	---	---	---
PODN	127435	broad.mit.edu	37	1	53544105	53544105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53544105C>T	uc001cuv.2	+	8	1074	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	PODN_uc001cuw.2_Missense_Mutation_p.P337L|PODN_uc010onr.1_Missense_Mutation_p.P337L|PODN_uc010ons.1_Missense_Mutation_p.P214L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	308	LRR 9.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675839	53675839	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675839A>T	uc001cvb.3	+	4	1008	c.493A>T	c.(493-495)ACA>TCA	p.T165S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	165	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53675956	53675956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53675956G>A	uc001cvb.3	+	4	1125	c.610G>A	c.(610-612)GCC>ACC	p.A204T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	204					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53715086	53715086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53715086T>C	uc001cvi.1	-	18	2961	c.2819A>G	c.(2818-2820)AAC>AGC	p.N940S	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.N770S|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	940	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---
TMEM48	55706	broad.mit.edu	37	1	54258916	54258916	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54258916A>G	uc001cvs.2	-	14	1862	c.1621T>C	c.(1621-1623)TAT>CAT	p.Y541H	TMEM48_uc010onu.1_Missense_Mutation_p.Y501H|TMEM48_uc001cvt.2_Missense_Mutation_p.Y418H|TMEM48_uc009vzk.2_Intron|TMEM48_uc010onv.1_Missense_Mutation_p.Y206H	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	541	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2																		---	---	---	---
YIPF1	54432	broad.mit.edu	37	1	54331937	54331937	+	Missense_Mutation	SNP	C	T	T	rs139670932		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54387395	54387395	+	Missense_Mutation	SNP	C	T	T	rs140103685	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54387395C>T	uc001cwh.2	-	6	440	c.364G>A	c.(364-366)GCC>ACC	p.A122T	HSPB11_uc001cwi.1_3'UTR	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	122					cell adhesion|response to stress						0																		---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54395786	54395786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54395786A>G	uc001cwh.2	-	3	207	c.131T>C	c.(130-132)ATG>ACG	p.M44T	HSPB11_uc001cwi.1_Missense_Mutation_p.M44T	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	44					cell adhesion|response to stress						0																		---	---	---	---
SSBP3	23648	broad.mit.edu	37	1	54867612	54867612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54867612A>G	uc001cxe.2	-	4	496	c.198T>C	c.(196-198)TTT>TTC	p.F66F	SSBP3_uc001cxf.2_Silent_p.F66F|SSBP3_uc001cxg.2_Silent_p.F66F	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0																		---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55074766	55074766	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55074766C>A	uc001cxm.1	+						ACOT11_uc001cxj.1_Missense_Mutation_p.P467H|ACOT11_uc001cxl.1_Missense_Mutation_p.P589H	NM_015547	NP_056362			thioesterase, adipose associated isoform BFIT1						fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1																		---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55518094	55518094	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55518094G>T	uc001cyf.1	+						PCSK9_uc010ool.1_Intron|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596			proprotein convertase subtilisin/kexin type 9						cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55627910	55627910	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55627910C>G	uc001cyg.3	-	7	619	c.619G>C	c.(619-621)GGA>CGA	p.G207R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	319					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57158066	57158066	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158066G>A	uc001cyk.3	+	4	437	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	122	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57159508	57159508	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57159508T>C	uc001cyk.3	+	5	617	c.546T>C	c.(544-546)CCT>CCC	p.P182P		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	182	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
C8B	732	broad.mit.edu	37	1	57420406	57420406	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57420406A>T	uc001cyp.2	-	4	553	c.486T>A	c.(484-486)TGT>TGA	p.C162*	C8B_uc010oon.1_Nonsense_Mutation_p.C100*|C8B_uc010ooo.1_Nonsense_Mutation_p.C110*	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57535065	57535065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57535065G>A	uc001cys.1	-	10	1305	c.631C>T	c.(631-633)CGT>TGT	p.R211C	DAB1_uc001cyt.1_Missense_Mutation_p.R211C|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.R211C	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	211					cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248625	59248625	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59248625G>T	uc001cze.2	-	1	1161	c.118C>A	c.(118-120)CTG>ATG	p.L40M	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	40					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)			A		sarcoma								---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60299106	60299106	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60299106T>C	uc009wad.2	+	6	405	c.303T>C	c.(301-303)CTT>CTC	p.L101L	HOOK1_uc001czo.2_Silent_p.L101L|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.L59L	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60330855	60330855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60330855A>G	uc009wad.2	+	19	1784	c.1682A>G	c.(1681-1683)CAT>CGT	p.H561R	HOOK1_uc001czo.2_Missense_Mutation_p.H561R|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.H519R	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	561	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62550219	62550219	+	Missense_Mutation	SNP	G	A	A	rs139521421		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62550219G>A	uc001dab.2	+	33	4390	c.4276G>A	c.(4276-4278)GCA>ACA	p.A1426T	INADL_uc009waf.1_Missense_Mutation_p.A1426T|INADL_uc001daa.2_Missense_Mutation_p.A1426T|INADL_uc001dad.3_Missense_Mutation_p.A1123T|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.A210T|INADL_uc009wag.2_Missense_Mutation_p.A210T|INADL_uc010oou.1_Missense_Mutation_p.A99T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1426					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62574144	62574144	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62574144G>A	uc001dab.2	+	34	4527	c.4413G>A	c.(4411-4413)GGG>GGA	p.G1471G	INADL_uc009waf.1_Silent_p.G1501G|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Silent_p.G1168G|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.G285G|INADL_uc009wag.2_Silent_p.G255G|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1471	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62614010	62614010	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62614010A>G	uc001dab.2	+	42	5440	c.5326A>G	c.(5326-5328)ACA>GCA	p.T1776A	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T560A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1776					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675548	62675548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675548C>T	uc001dae.3	+	4	1404	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	368										ovary(1)|skin(1)	2																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675858	62675858	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675858A>T	uc001dae.3	+	4	1714	c.1412A>T	c.(1411-1413)GAC>GTC	p.D471V		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	471	Glu-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62738936	62738936	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62738936A>G	uc001dah.3	-	3	2217	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	614										ovary(3)|skin(2)|lung(1)	6																		---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63090947	63090947	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63090947T>A	uc001daq.2	-	12	1442	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	DOCK7_uc001dan.2_Missense_Mutation_p.T362S|DOCK7_uc001dao.2_Missense_Mutation_p.T362S|DOCK7_uc001dap.2_Missense_Mutation_p.T470S|DOCK7_uc009wah.1_Missense_Mutation_p.T470S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	470					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
ITGB3BP	23421	broad.mit.edu	37	1	63919586	63919586	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63919586T>C	uc001dba.1	-						ITGB3BP_uc001dbb.1_Intron|ITGB3BP_uc001dbc.1_Intron|ITGB3BP_uc001dbd.1_Intron|ITGB3BP_uc009wak.1_Missense_Mutation_p.K185E|ITGB3BP_uc001dbe.1_Intron	NM_014288	NP_055103			integrin beta 3 binding protein						apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0																		---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64644121	64644121	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64644121G>T	uc001dbj.2	+	9	2796	c.2397G>T	c.(2395-2397)CAG>CAT	p.Q799H	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	799	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19																		---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65120394	65120394	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65120394G>A	uc001dbo.1	+	12	1642	c.1537G>A	c.(1537-1539)GCA>ACA	p.A513T	CACHD1_uc001dbp.1_Missense_Mutation_p.A268T|CACHD1_uc001dbq.1_Missense_Mutation_p.A268T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	564	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65332662	65332662	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65332662T>A	uc001dbu.1	-	7	1126	c.877A>T	c.(877-879)ATT>TTT	p.I293F	JAK1_uc009wam.1_Missense_Mutation_p.I281F	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	293	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65851520	65851520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65851520G>A	uc001dcd.1	+	7	919	c.755G>A	c.(754-756)CGC>CAC	p.R252H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H|DNAJC6_uc001dce.1_Missense_Mutation_p.R309H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65871610	65871610	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65871610C>T	uc001dcd.1	+	16	2278	c.2114C>T	c.(2113-2115)CCG>CTG	p.P705L	DNAJC6_uc010opc.1_Missense_Mutation_p.P692L|DNAJC6_uc001dce.1_Missense_Mutation_p.P762L	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65878634	65878634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65878634G>A	uc001dcd.1	+	19	2832	c.2668G>A	c.(2668-2670)GCA>ACA	p.A890T	DNAJC6_uc010opc.1_Missense_Mutation_p.A877T|DNAJC6_uc001dce.1_Missense_Mutation_p.A947T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	890	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102560	66102560	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66102560C>A	uc001dci.2	+	20	3562	c.3360C>A	c.(3358-3360)TGC>TGA	p.C1120*	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1120	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67356835	67356835	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67356835A>G	uc001dcx.2	-	4	699	c.643_splice	c.e4+1	p.D215_splice	WDR78_uc001dcy.2_Splice_Site_p.D215_splice|WDR78_uc001dcz.2_Splice_Site_p.D215_splice|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039			WD repeat domain 78 isoform 1											ovary(2)	2																		---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67512970	67512970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67512970A>G	uc001ddk.2	-	7	998	c.614T>C	c.(613-615)GTA>GCA	p.V205A	SLC35D1_uc010oph.1_Missense_Mutation_p.V126A	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	205	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)													---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67721560	67721560	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67721560T>C	uc001ddo.2	+	10	1274	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	IL23R_uc009waz.2_Missense_Mutation_p.Y194H|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Intron|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.Y143H|IL23R_uc010opn.1_Missense_Mutation_p.Y242H|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.Y256H|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.Y226H|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.Y194H|IL23R_uc010opt.1_Missense_Mutation_p.Y38H|IL23R_uc010opu.1_Missense_Mutation_p.Y93H|IL23R_uc010opv.1_Missense_Mutation_p.Y155H|IL23R_uc010opw.1_Missense_Mutation_p.Y32H|IL23R_uc010opx.1_Missense_Mutation_p.Y38H|IL23R_uc010opy.1_Missense_Mutation_p.Y164H|IL23R_uc010opz.1_Missense_Mutation_p.Y38H|IL23R_uc010oqa.1_Missense_Mutation_p.Y38H|IL23R_uc010oqb.1_Missense_Mutation_p.Y226H|IL23R_uc010oqc.1_Missense_Mutation_p.Y113H|IL23R_uc010oqd.1_Missense_Mutation_p.Y32H|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Missense_Mutation_p.Y38H|IL23R_uc001dds.2_Missense_Mutation_p.Y142H|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	397	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0																		---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67787284	67787284	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67787284G>C	uc001ddu.2	+	3	717	c.77_splice	c.e3-1	p.D26_splice	IL12RB2_uc010oqi.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqj.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqm.1_Splice_Site_p.D26_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550			interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67885689	67885689	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67885689T>A	uc001ddv.2	-						SERBP1_uc001ddx.2_Intron|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	NM_001018067	NP_001018077			SERPINE1 mRNA binding protein 1 isoform 1						regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70226075	70226075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70226075A>G	uc001dep.2	+	1	218	c.188A>G	c.(187-189)AAG>AGG	p.K63R	LRRC7_uc001deo.1_Missense_Mutation_p.K101R|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493845	70493845	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70493845A>T	uc001dep.2	+						LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845			leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504911	70504911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70504911C>T	uc001dep.2	+	19	3320	c.3290C>T	c.(3289-3291)GCT>GTT	p.A1097V	LRRC7_uc009wbg.2_Missense_Mutation_p.A381V|LRRC7_uc001deq.2_Missense_Mutation_p.A338V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1097						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	74737329	74737329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74737329A>G	uc001dgf.1	+	5	432	c.381A>G	c.(379-381)ATA>ATG	p.I127M	TNNI3K_uc001dgc.1_Missense_Mutation_p.I228M|TNNI3K_uc001dgd.2_Missense_Mutation_p.I228M|TNNI3K_uc001dge.1_Missense_Mutation_p.I228M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	127	ANK 2.			I -> V (in Ref. 8; AAH32865).		cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75036811	75036811	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75036811A>G	uc001dgg.2	-	14	4802	c.4583T>C	c.(4582-4584)ATG>ACG	p.M1528T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1528										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75072508	75072508	+	Missense_Mutation	SNP	C	A	A	rs138387900	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75072508C>A	uc001dgg.2	-	10	1485	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E216D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	422	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75175906	75175906	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75175906G>T	uc001dgk.2	-	7	1011	c.506C>A	c.(505-507)GCT>GAT	p.A169D	CRYZ_uc001dgj.2_Missense_Mutation_p.A169D|CRYZ_uc001dgl.2_Missense_Mutation_p.A169D|CRYZ_uc001dgm.2_Missense_Mutation_p.A32D	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	169					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)													---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76257267	76257267	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76257267A>T	uc001dgy.1	+						RABGGTB_uc009wbt.1_Intron|RABGGTB_uc001dha.1_Intron|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573			RAB geranylgeranyltransferase, beta subunit						protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1																		---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76384670	76384670	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76384670A>G	uc001dhe.1	-	3	995	c.855T>C	c.(853-855)GCT>GCC	p.A285A	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	285	SOCS box.				intracellular signal transduction					ovary(1)	1																		---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77528783	77528783	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77528783A>G	uc001dhi.2	+	5	1078	c.903A>G	c.(901-903)AAA>AAG	p.K301K	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	301	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2																		---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78047779	78047779	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78047779A>G	uc001dhq.2	-	7	2153	c.1677T>C	c.(1675-1677)GTT>GTC	p.V559V	ZZZ3_uc001dhr.2_Silent_p.V65V|ZZZ3_uc001dhp.2_Silent_p.V559V	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78163606	78163606	+	Silent	SNP	A	G	G	rs35826044		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78163606A>G	uc001dht.2	-	24	2960	c.2613T>C	c.(2611-2613)GGT>GGC	p.G871G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.V558A|USP33_uc001dhu.2_Silent_p.G840G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	871	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78194238	78194238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78194238A>G	uc001dht.2	-	11	1317	c.970T>C	c.(970-972)TGT>CGT	p.C324R	USP33_uc001dhs.2_Missense_Mutation_p.C45R|USP33_uc001dhu.2_Missense_Mutation_p.C293R|USP33_uc001dhv.2_Missense_Mutation_p.C129R|USP33_uc001dhw.2_Missense_Mutation_p.C324R	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	324					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78205094	78205094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78205094C>T	uc001dht.2	-	6	647	c.300G>A	c.(298-300)AAG>AAA	p.K100K	USP33_uc001dhu.2_Silent_p.K69K|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Silent_p.K100K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	100	UBP-type.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
USP33	23032	broad.mit.edu	37	1	78207399	78207399	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78207399T>C	uc001dht.2	-	3	424	c.77A>G	c.(76-78)GAA>GGA	p.E26G	USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.E26G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	26					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78425903	78425903	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78425903A>T	uc001dii.2	-	16	1631	c.1542T>A	c.(1540-1542)TAT>TAA	p.Y514*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.Y535*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	514	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78429943	78429943	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78429943C>T	uc001dii.2	-	11	1025	c.936G>A	c.(934-936)AAG>AAA	p.K312K	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.K333K	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	312	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82432273	82432273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82432273T>C	uc001dit.3	+	12	2459	c.2278T>C	c.(2278-2280)TTT>CTT	p.F760L	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F760L|LPHN2_uc001div.2_Missense_Mutation_p.F760L|LPHN2_uc009wcd.2_Missense_Mutation_p.F760L|LPHN2_uc001diw.2_Missense_Mutation_p.F344L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	773	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82436047	82436047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82436047C>T	uc001dit.3	+	15	2913	c.2732C>T	c.(2731-2733)GCT>GTT	p.A911V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A911V|LPHN2_uc001div.2_Missense_Mutation_p.A911V|LPHN2_uc009wcd.2_Missense_Mutation_p.A911V|LPHN2_uc001diw.2_Missense_Mutation_p.A495V|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	924	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82447656	82447656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82447656A>G	uc001dit.3	+	18	3408	c.3227A>G	c.(3226-3228)AAG>AGG	p.K1076R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K1076R|LPHN2_uc001div.2_Missense_Mutation_p.K1076R|LPHN2_uc009wcd.2_Missense_Mutation_p.K1076R|LPHN2_uc001diw.2_Missense_Mutation_p.K660R|LPHN2_uc009wce.1_Missense_Mutation_p.K177R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1089	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82452676	82452676	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82452676A>G	uc001dit.3	+						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Intron|LPHN2_uc001div.2_Intron|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Silent_p.V767V	NM_012302	NP_036434			latrophilin 2 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82456638	82456638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82456638T>C	uc001dit.3	+	21	4202	c.4021T>C	c.(4021-4023)TCC>CCC	p.S1341P	LPHN2_uc001dis.2_Missense_Mutation_p.S321P|LPHN2_uc001diu.2_Missense_Mutation_p.S1341P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S968P	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1397	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84348635	84348635	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84348635T>C	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84394887	84394887	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84394887A>G	uc001djc.2	-	10	1470	c.1074T>C	c.(1072-1074)ACT>ACC	p.T358T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	358	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403686	84403686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403686A>G	uc001djc.2	-	8	1133	c.737T>C	c.(736-738)ATG>ACG	p.M246T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	246	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403704	84403704	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84403704A>G	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84417647	84417647	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84417647G>A	uc001djc.2	-	3	434	c.38C>T	c.(37-39)CCC>CTC	p.P13L	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	13				P -> S (in Ref. 1; AAO37763).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84864327	84864327	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84864327C>T	uc001djt.1	+	1	113	c.80C>T	c.(79-81)GCA>GTA	p.A27V	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	27					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)									Direct_reversal_of_damage					---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85020676	85020676	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85020676A>G	uc001dka.2	-	7					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_3'UTR|CTBS_uc001dkd.2_3'UTR|CTBS_uc001dkb.2_3'UTR	NM_004388	NP_004379			chitobiase, di-N-acetyl- precursor							lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)														---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85128059	85128059	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85128059C>T	uc001dkh.2	-	9	1025	c.750_splice	c.e9-1	p.R250_splice	SSX2IP_uc001dkf.2_Splice_Site_p.R223_splice|SSX2IP_uc001dkg.2_Splice_Site|SSX2IP_uc010orz.1_Splice_Site_p.R223_splice|SSX2IP_uc001dki.2_Splice_Site_p.R250_splice|SSX2IP_uc010osa.1_Splice_Site_p.R223_splice|SSX2IP_uc001dkj.2_Splice_Site_p.R250_splice|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Splice_Site_p.R246_splice	NM_014021	NP_054740			synovial sarcoma, X breakpoint 2 interacting						cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85279740	85279740	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85279740A>C	uc001dkl.2	-	2	890	c.851T>G	c.(850-852)CTC>CGC	p.L284R	LPAR3_uc009wcj.1_Missense_Mutation_p.L284R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	284	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5																		---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86246964	86246964	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86246964G>A	uc001dlj.2	-						COL24A1_uc001dli.2_Intron|COL24A1_uc010osd.1_Intron|COL24A1_uc001dlk.2_Intron|COL24A1_uc010ose.1_Intron|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850			collagen, type XXIV, alpha 1 precursor						cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86891127	86891127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86891127A>G	uc001dlr.3	+	2	454	c.292A>G	c.(292-294)AAC>GAC	p.N98D		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	98	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)														---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89226053	89226053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89226053T>C	uc001dmn.2	+	3	840	c.498T>C	c.(496-498)TCT>TCC	p.S166S	PKN2_uc001dmm.1_Silent_p.S166S|PKN2_uc010osp.1_Silent_p.S166S|PKN2_uc010osq.1_Silent_p.S9S|PKN2_uc009wcv.2_Silent_p.S166S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	166	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89323054	89323054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89323054A>G	uc001dmo.3	-	6	771	c.652T>C	c.(652-654)TTC>CTC	p.F218L		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)														---	---	---	---
GBP1	2633	broad.mit.edu	37	1	89521797	89521797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89521797C>T	uc001dmx.2	-	8	1490	c.1270G>A	c.(1270-1272)GCG>ACG	p.A424T		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	424					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)														---	---	---	---
GBP5	115362	broad.mit.edu	37	1	89727976	89727976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89727976T>C	uc001dnc.2	-	11	2111	c.1574A>G	c.(1573-1575)CAA>CGA	p.Q525R	GBP5_uc001dnd.2_Missense_Mutation_p.Q525R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	525						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)														---	---	---	---
LRRC8D	55144	broad.mit.edu	37	1	90400154	90400154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90400154T>C	uc001dnm.2	+	3	1952	c.1527T>C	c.(1525-1527)ATT>ATC	p.I509I	LRRC8D_uc001dnn.2_Silent_p.I509I	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	509						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)														---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90487907	90487907	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90487907A>C	uc001dnq.2	+						ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021			zinc finger protein 326 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)														---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91180132	91180132	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91180132G>A	uc001dns.2	-	2	849	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	269	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91382481	91382481	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91382481T>A	uc001dnw.2	-	6	4000	c.3858A>T	c.(3856-3858)CGA>CGT	p.R1286R	ZNF644_uc001dnv.2_Silent_p.R64R|ZNF644_uc001dnx.2_Silent_p.R64R	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406878	91406878	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91406878A>G	uc001dnw.2	-						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Intron	NM_201269	NP_958357			zinc finger protein 644 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91779569	91779569	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91779569C>T	uc001doa.3	-	29	3289	c.3189G>A	c.(3187-3189)GTG>GTA	p.V1063V	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.V742V|HFM1_uc001dob.3_Silent_p.V251V|HFM1_uc010osv.1_Silent_p.V747V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1063	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91816380	91816380	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91816380A>G	uc001doa.3	-	18	2221	c.2121T>C	c.(2119-2121)CAT>CAC	p.H707H	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.H386H|HFM1_uc010osv.1_Silent_p.H391H	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92428390	92428390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92428390C>T	uc001dok.3	+	2	428	c.79C>T	c.(79-81)CGA>TGA	p.R27*	BRDT_uc001dol.3_Nonsense_Mutation_p.R27*|BRDT_uc010osz.1_Nonsense_Mutation_p.R27*|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Nonsense_Mutation_p.R27*|BRDT_uc010otb.1_Nonsense_Mutation_p.R27*|BRDT_uc001dom.3_Nonsense_Mutation_p.R27*	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92433761	92433761	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92433761T>C	uc001dok.3	+	4	738	c.389T>C	c.(388-390)TTA>TCA	p.L130S	BRDT_uc001dol.3_Missense_Mutation_p.L130S|BRDT_uc010osz.1_Missense_Mutation_p.L130S|BRDT_uc009wdf.2_Missense_Mutation_p.L57S|BRDT_uc010ota.1_Missense_Mutation_p.L84S|BRDT_uc010otb.1_Missense_Mutation_p.L84S|BRDT_uc001dom.3_Missense_Mutation_p.L130S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94033334	94033334	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94033334C>T	uc001dpz.2	-	10	2324	c.2049G>A	c.(2047-2049)CAG>CAA	p.Q683Q	BCAR3_uc001dqa.2_Silent_p.Q683Q|BCAR3_uc001dqb.2_Silent_p.Q683Q|BCAR3_uc001dpx.3_Silent_p.Q359Q|BCAR3_uc001dpy.2_Silent_p.Q592Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	683	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94049596	94049596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94049596A>G	uc001dpz.2	-	6	1287	c.1012T>C	c.(1012-1014)TCA>CCA	p.S338P	BCAR3_uc001dqa.2_Missense_Mutation_p.S338P|BCAR3_uc001dqb.2_Missense_Mutation_p.S338P|BCAR3_uc001dpx.3_Missense_Mutation_p.S14P|BCAR3_uc001dpy.2_Missense_Mutation_p.S247P|BCAR3_uc009wdm.1_Missense_Mutation_p.S14P	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	338					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94054955	94054955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94054955G>A	uc001dpz.2	-	5	783	c.508C>T	c.(508-510)CGA>TGA	p.R170*	BCAR3_uc001dqa.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.R170*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.R79*|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	170	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94335500	94335500	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94335500T>A	uc001dqf.2	-	7	2216	c.2178A>T	c.(2176-2178)AGA>AGT	p.R726S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94338708	94338708	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94338708A>G	uc001dqf.2	-	4	1907	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94476478	94476478	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94476478C>T	uc001dqh.2	-	40	5696	c.5592G>A	c.(5590-5592)GAG>GAA	p.E1864E	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E132E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1864					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94544162	94544162	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94544162T>C	uc001dqh.2	-	10	1444	c.1340A>G	c.(1339-1341)CAG>CGG	p.Q447R	ABCA4_uc010otn.1_Missense_Mutation_p.Q447R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	447	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---
ABCD3	5825	broad.mit.edu	37	1	94955477	94955477	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94955477T>G	uc001dqn.3	+	15	1370	c.1268T>G	c.(1267-1269)GTC>GGC	p.V423G	ABCD3_uc010oto.1_Missense_Mutation_p.V447G|ABCD3_uc010otp.1_Missense_Mutation_p.V350G|ABCD3_uc009wdr.2_Missense_Mutation_p.V313G|ABCD3_uc001dqo.3_Missense_Mutation_p.V111G	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	423					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)														---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97250813	97250813	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97250813A>T	uc001drq.2	+						PTBP2_uc001drn.2_Intron|PTBP2_uc001dro.2_Intron|PTBP2_uc010otz.1_Intron|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drr.2_Intron|PTBP2_uc010oua.1_Intron|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron	NM_021190	NP_067013			polypyrimidine tract binding protein 2								nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97839124	97839124	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97839124C>T	uc001drv.2	-	16	2188	c.2051G>A	c.(2050-2052)TGT>TAT	p.C684Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	684					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99771407G>A	uc001dse.2	+	7	1239	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	LPPR4_uc010oue.1_Missense_Mutation_p.R320Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	378							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100525469	100525469	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100525469T>C	uc001dst.2	+	4	279	c.279T>C	c.(277-279)GGT>GGC	p.G93G		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	93	Helical; Name=2; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100547720	100547720	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100547720G>A	uc001dst.2	+	12	1428	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	476	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100588820	100588820	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100588820T>C	uc001dsu.2	-	3	293	c.152A>G	c.(151-153)GAC>GGC	p.D51G	SASS6_uc009wdz.2_Intron	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	51	PISA.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100733760	100733760	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100733760C>T	uc001dtc.2	+	3	417	c.199C>T	c.(199-201)CTG>TTG	p.L67L	RTCD1_uc010ouh.1_Silent_p.L67L|RTCD1_uc001dtd.2_Silent_p.L80L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	67					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100740491	100740491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100740491A>G	uc001dtc.2	+	6	803	c.585A>G	c.(583-585)AGA>AGG	p.R195R	RTCD1_uc001dtd.2_Silent_p.R208R	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	195					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101431466	101431466	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101431466T>A	uc001dtn.2	+	10	1262	c.1075T>A	c.(1075-1077)TTT>ATT	p.F359I	SLC30A7_uc001dto.2_Missense_Mutation_p.F359I	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	359	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)														---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101458252	101458252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101458252T>C	uc001dts.2	-	7	722	c.575A>G	c.(574-576)CAA>CGA	p.Q192R	DPH5_uc001dtr.2_Missense_Mutation_p.Q192R|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Missense_Mutation_p.Q192R|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Missense_Mutation_p.Q71R|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	192					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)														---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102290762	102290762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102290762G>A	uc001duf.2	-	4	543	c.472C>T	c.(472-474)CCC>TCC	p.P158S	OLFM3_uc001dug.2_Missense_Mutation_p.P138S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.P63S|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	158	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104118128	104118128	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:104118128G>A	uc001duq.2	+	9	1683	c.1067G>A	c.(1066-1068)AGC>AAC	p.S356N	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S356N|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	356					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107867139	107867139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107867139T>C	uc001dvh.3	+	3	1200	c.482T>C	c.(481-483)ATC>ACC	p.I161T	NTNG1_uc001dvf.3_Missense_Mutation_p.I161T|NTNG1_uc010out.1_Missense_Mutation_p.I161T|NTNG1_uc001dvc.3_Missense_Mutation_p.I161T|NTNG1_uc001dvd.1_Missense_Mutation_p.I161T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	161	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107973538	107973538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107973538A>G	uc001dvh.3	+	6	1972	c.1254A>G	c.(1252-1254)ATA>ATG	p.I418M	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	418	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109154855	109154855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109154855G>A	uc010ouy.1	+	4	424	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	115										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)														---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109321945	109321945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109321945G>A	uc001dvy.2	+	9	797	c.722G>A	c.(721-723)GGC>GAC	p.G241D	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	241	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)														---	---	---	---
CLCC1	23155	broad.mit.edu	37	1	109482311	109482311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109482311T>C	uc001dwe.1	-	9	1080	c.988A>G	c.(988-990)ATT>GTT	p.I330V	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.I330V|CLCC1_uc001dwg.1_Missense_Mutation_p.I280V|CLCC1_uc009wes.1_Missense_Mutation_p.I209V|CLCC1_uc009wet.1_Missense_Mutation_p.I145V	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	330	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)														---	---	---	---
KIAA1324	57535	broad.mit.edu	37	1	109742558	109742558	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109742558G>A	uc001dwq.2	+	20	2720	c.2584G>A	c.(2584-2586)GCT>ACT	p.A862T	KIAA1324_uc009wex.1_Missense_Mutation_p.A812T|KIAA1324_uc009wey.2_Missense_Mutation_p.A775T|KIAA1324_uc010ovg.1_Missense_Mutation_p.A760T|KIAA1324_uc001dwr.2_Missense_Mutation_p.A512T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	862	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)														---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110129475	110129475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110129475C>T	uc001dxz.2	+	7	1002	c.845C>T	c.(844-846)CCG>CTG	p.P282L		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	282					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)														---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110203856	110203856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110203856G>A	uc001dyf.2	+	8	951	c.637G>A	c.(637-639)GCT>ACT	p.A213T	GSTM4_uc001dyg.2_Missense_Mutation_p.A109T|GSTM4_uc009wfj.2_Missense_Mutation_p.A152T|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	213					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110555579	110555579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110555579T>C	uc001dyx.2	+	5	905	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	AHCYL1_uc010ovw.1_Missense_Mutation_p.Y133H|AHCYL1_uc001dyy.2_Missense_Mutation_p.Y133H|AHCYL1_uc010ovx.1_Missense_Mutation_p.Y133H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	180					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---
FAM40A	85369	broad.mit.edu	37	1	110580588	110580588	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110580588G>A	uc001dza.1	+						FAM40A_uc001dyz.1_Intron|FAM40A_uc009wfp.1_Intron	NM_033088	NP_149079			hypothetical protein LOC85369							nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)														---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110737212	110737212	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110737212C>T	uc009wfq.2	+	9	1772	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	SLC6A17_uc001dze.1_Silent_p.G35G	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	437	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)														---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111059927	111059927	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111059927C>A	uc001dzt.1	-	1	1871	c.1483G>T	c.(1483-1485)GAC>TAC	p.D495Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	495						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
C1orf103	55791	broad.mit.edu	37	1	111490579	111490579	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111490579T>C	uc001eaa.2	-	4					C1orf103_uc001dzz.2_3'UTR|C1orf103_uc001eab.2_3'UTR|C1orf103_uc001eac.1_3'UTR	NM_018372	NP_060842			receptor-interacting factor 1 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)														---	---	---	---
DRAM2	128338	broad.mit.edu	37	1	111668915	111668915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111668915C>T	uc001ead.3	-	4	390	c.133G>A	c.(133-135)GAC>AAC	p.D45N	DRAM2_uc001eae.3_Missense_Mutation_p.D45N|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	45					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0																		---	---	---	---
C1orf88	128344	broad.mit.edu	37	1	111891127	111891127	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111891127C>G	uc001eaw.2	+						C1orf88_uc001eax.2_Intron|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_5'UTR	NM_181643	NP_857594			hypothetical protein LOC128344											ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---
C1orf162	128346	broad.mit.edu	37	1	112020302	112020302	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112020302G>A	uc001ebe.2	+	5	292	c.232G>A	c.(232-234)GGC>AGC	p.G78S		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	78						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)														---	---	---	---
RAP1A	5906	broad.mit.edu	37	1	112247110	112247110	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112247110T>A	uc001ebi.2	+	6	572	c.468_splice	c.e6+2	p.E156_splice	RAP1A_uc001ebk.2_Splice_Site_p.E156_splice|RAP1A_uc001ebl.2_Splice_Site_p.E156_splice|RAP1A_uc001ebm.2_Splice_Site	NM_002884	NP_002875			RAP1A, member of RAS oncogene family precursor						activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112991688	112991688	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112991688T>A	uc001ebx.2	+	4	452	c.224T>A	c.(223-225)GTC>GAC	p.V75D		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	75						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998596	112998596	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998596A>G	uc001ebx.2	+	6	710	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	161	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998647	112998647	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112998647T>A	uc001ebx.2	+	6	761	c.533T>A	c.(532-534)CTC>CAC	p.L178H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	178	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113197105	113197105	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113197105G>A	uc001ecj.1	+	5	630	c.238G>A	c.(238-240)GGT>AGT	p.G80S		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113217525	113217525	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113217525C>A	uc001eck.2	+	2					MOV10_uc001ecl.2_5'UTR|MOV10_uc001ecn.2_5'UTR|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	NM_001130079	NP_001123551			Mov10, Moloney leukemia virus 10, homolog						mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113238807	113238807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113238807T>C	uc001eck.2	+	12	2087	c.1817T>C	c.(1816-1818)GTA>GCA	p.V606A	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V606A|MOV10_uc001ecm.2_Missense_Mutation_p.V546A|MOV10_uc009wgj.1_Missense_Mutation_p.V546A	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	606					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113653183	113653183	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113653183T>C	uc001edf.1	+	13	1995	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	LRIG2_uc009wgn.1_Silent_p.N496N	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	599	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114184904	114184904	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114184904A>T	uc001edk.2	+	10	1913	c.1732A>T	c.(1732-1734)ACT>TCT	p.T578S	MAGI3_uc001edh.3_Missense_Mutation_p.T603S|MAGI3_uc001edi.3_Missense_Mutation_p.T578S|MAGI3_uc010owm.1_Missense_Mutation_p.T603S|MAGI3_uc001edj.2_Missense_Mutation_p.T299S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	603	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114247337	114247337	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114247337T>C	uc009wgp.1	-	13	2206	c.1754A>G	c.(1753-1755)AAG>AGG	p.K585R	PHTF1_uc001edn.2_Missense_Mutation_p.K585R|PHTF1_uc001edm.2_Missense_Mutation_p.K342R	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	585						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114310883	114310883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114310883G>T	uc001edq.2	-	5	1823	c.1787C>A	c.(1786-1788)GCT>GAT	p.A596D	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	596						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114320291	114320291	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114320291A>G	uc001edq.2	-	3	1551	c.1515_splice	c.e3+1	p.K505_splice	RSBN1_uc001edr.2_Splice_Site	NM_018364	NP_060834			round spermatid basic protein 1							nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114447319	114447319	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114447319C>A	uc001eeb.2	-	1	164	c.21G>T	c.(19-21)GAG>GAT	p.E7D	AP4B1_uc001eec.2_Missense_Mutation_p.E7D|AP4B1_uc001eed.2_Missense_Mutation_p.E7D|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Missense_Mutation_p.E7D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114450717	114450717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114450717A>G	uc001eeg.2	+	3	613	c.442A>G	c.(442-444)AAT>GAT	p.N148D	AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|DCLRE1B_uc001eeh.2_Missense_Mutation_p.N22D|DCLRE1B_uc001eei.2_Missense_Mutation_p.N22D	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	148					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114508904	114508904	+	Intron	SNP	C	A	A	rs79568971		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114508904C>A	uc001eem.2	+						HIPK1_uc001eel.2_Intron|HIPK1_uc001een.2_Intron|HIPK1_uc001eeo.2_Intron|HIPK1_uc001eep.2_Intron|HIPK1_uc001eeq.2_Intron	NM_198268	NP_938009			homeodomain-interacting protein kinase 1 isoform						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114680358	114680358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114680358C>T	uc001eev.2	-	3	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	277	Cytoplasmic (Potential).|C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114682276	114682276	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114682276C>T	uc001eev.2	-	2	468	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	158	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940429	114940429	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940429A>G	uc001eew.2	-	20	3309	c.3225T>C	c.(3223-3225)GAT>GAC	p.D1075D	TRIM33_uc010owr.1_Silent_p.D689D|TRIM33_uc010ows.1_Silent_p.D707D|TRIM33_uc001eex.2_Silent_p.D1058D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1075					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114940559	114940559	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114940559T>C	uc001eew.2	-						TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114970520	114970520	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114970520A>C	uc001eew.2	-						TRIM33_uc010owr.1_5'Flank|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
DENND2C	163259	broad.mit.edu	37	1	115130002	115130002	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115130002A>G	uc001efd.1	-						DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Intron	NM_198459	NP_940861			DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115221074	115221074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115221074T>C	uc001efe.1	-	8	1056	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	AMPD1_uc001eff.1_Silent_p.Q320Q	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	324					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)													---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115261368	115261368	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115261368T>C	uc001efk.2	-	19	2683	c.2217_splice	c.e19-1	p.C739_splice	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Splice_Site_p.C785_splice|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Splice_Site_p.C708_splice|CSDE1_uc001efm.2_Splice_Site_p.C754_splice|CSDE1_uc009wgv.2_Splice_Site_p.C739_splice|CSDE1_uc001efn.2_Splice_Site_p.C708_splice	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115282310	115282310	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115282310T>C	uc001efk.2	-						CSDE1_uc001efi.2_Intron|CSDE1_uc001efj.2_Intron|CSDE1_uc001efl.2_Intron|CSDE1_uc001efm.2_Intron|CSDE1_uc009wgv.2_Intron|CSDE1_uc001efn.2_Intron	NM_001007553	NP_001007554			upstream of NRAS isoform 1						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115418740	115418740	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115418740A>T	uc001efr.2	+	10	917	c.708A>T	c.(706-708)AGA>AGT	p.R236S	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R236S|SYCP1_uc009wgw.2_Missense_Mutation_p.R236S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	236	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TSHB	7252	broad.mit.edu	37	1	115576796	115576796	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115576796C>A	uc001efs.1	+	3	433	c.365C>A	c.(364-366)ACA>AAA	p.T122K		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	122					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)														---	---	---	---
NHLH2	4808	broad.mit.edu	37	1	116380781	116380781	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116380781G>C	uc009wgz.2	-	2	718	c.213C>G	c.(211-213)CGC>CGG	p.R71R	NHLH2_uc001efy.2_Silent_p.R71R	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	71	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116937812	116937812	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116937812G>A	uc001ege.2	+	13	2080	c.1741G>A	c.(1741-1743)GAT>AAT	p.D581N	ATP1A1_uc010owv.1_Missense_Mutation_p.D550N|ATP1A1_uc010oww.1_Missense_Mutation_p.D581N|ATP1A1_uc010owx.1_Missense_Mutation_p.D550N|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	581	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)													---	---	---	---
CD101	9398	broad.mit.edu	37	1	117552590	117552590	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117552590G>T	uc010oxb.1	+	2	220	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CD101_uc009whd.2_Missense_Mutation_p.Q54H|CD101_uc010oxc.1_Missense_Mutation_p.Q54H|CD101_uc010oxd.1_Missense_Mutation_p.Q54H	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	54	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561006	117561006	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117561006C>T	uc010oxb.1	+	6	1899	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M	CD101_uc009whd.2_Missense_Mutation_p.T614M|CD101_uc010oxc.1_Missense_Mutation_p.T614M|CD101_uc010oxd.1_Missense_Mutation_p.T552M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	614	Extracellular (Potential).|Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117617696	117617696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117617696G>A	uc001egy.2	+	5	510	c.490G>A	c.(490-492)GAT>AAT	p.D164N	TTF2_uc001egx.1_Missense_Mutation_p.D164N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	164					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117634487	117634487	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117634487A>T	uc001egy.2	+	17	2740	c.2720A>T	c.(2719-2721)GAC>GTC	p.D907V	MIR942_hsa-mir-942|MI0005767_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	907					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)														---	---	---	---
VTCN1	79679	broad.mit.edu	37	1	117695702	117695702	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117695702C>T	uc001ehb.2	-						VTCN1_uc001ehc.2_Intron|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902			V-set domain containing T cell activation							integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)														---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118009007	118009007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118009007T>C	uc001ehd.1	+	8	1847	c.1126T>C	c.(1126-1128)TAT>CAT	p.Y376H	MAN1A2_uc009whg.1_Missense_Mutation_p.Y166H	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	376	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)														---	---	---	---
FAM46C	54855	broad.mit.edu	37	1	118165851	118165851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118165851C>T	uc001ehe.2	+	2	560	c.361C>T	c.(361-363)CCA>TCA	p.P121S		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	121											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)											Multiple Myeloma(3;1.13e-06)			---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118483468	118483468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118483468C>T	uc010oxe.1	+	7	760	c.694C>T	c.(694-696)CCA>TCA	p.P232S	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P61S	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	232						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118516195	118516195	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118516195G>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118526430	118526430	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118526430T>A	uc001ehk.2	-							NM_206996	NP_996879			sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118527389	118527389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118527389T>C	uc001ehk.2	-	41	5754	c.5686A>G	c.(5686-5688)ACA>GCA	p.T1896A		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118530822	118530822	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118530822C>T	uc001ehk.2	-	39	5595	c.5527G>A	c.(5527-5529)GCT>ACT	p.A1843T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1843						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119584963	119584963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119584963T>C	uc001ehn.2	-	4	467	c.439A>G	c.(439-441)ACC>GCC	p.T147A	WARS2_uc010oxf.1_Missense_Mutation_p.T53A|WARS2_uc001ehm.2_Missense_Mutation_p.T147A|WARS2_uc010oxg.1_Missense_Mutation_p.T90A|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	147					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)													---	---	---	---
HAO2	51179	broad.mit.edu	37	1	119927387	119927387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119927387T>C	uc001ehq.1	+						HAO2_uc001ehr.1_Intron	NM_001005783	NP_001005783			hydroxyacid oxidase 2						fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)														---	---	---	---
PHGDH	26227	broad.mit.edu	37	1	120277395	120277395	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120277395T>G	uc001ehz.2	+						PHGDH_uc009whl.2_Missense_Mutation_p.C119G|PHGDH_uc009whm.2_Intron|PHGDH_uc001eia.2_Intron|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Intron	NM_006623	NP_006614			phosphoglycerate dehydrogenase						brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)													---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144867919	144867919	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144867919A>G	uc001elw.3	-	33	5809	c.5518_splice	c.e33+1	p.G1840_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.G1734_splice|PDE4DIP_uc001elv.3_Splice_Site_p.G847_splice|PDE4DIP_uc001ema.2_Intron	NM_014644	NP_055459			phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882879	144882879	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882879T>G	uc001elw.3	-	24	3431	c.3140A>C	c.(3139-3141)AAC>ACC	p.N1047T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1113T|PDE4DIP_uc001elv.3_Missense_Mutation_p.N54T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1047					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144917847	144917847	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144917847C>T	uc001elw.3	-	11	1730	c.1439G>A	c.(1438-1440)CGA>CAA	p.R480Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R546Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R480Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R643Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R9Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R267Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	480	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144921944	144921944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144921944A>G	uc001elw.3	-	9	1376	c.1085T>C	c.(1084-1086)GTA>GCA	p.V362A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V428A|PDE4DIP_uc001emc.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emd.1_Missense_Mutation_p.V362A|PDE4DIP_uc001emb.1_Missense_Mutation_p.V525A|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.V149A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	362	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145535890	145535890	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145535890A>T	uc001eoa.2	+	16	2154	c.2078A>T	c.(2077-2079)GAT>GTT	p.D693V	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.D562V|ITGA10_uc009wiw.2_Missense_Mutation_p.D550V|ITGA10_uc010oyw.1_Missense_Mutation_p.D638V	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	693	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562806	145562806	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145562806C>T	uc001eob.1	+	10	2602	c.2494C>T	c.(2494-2496)CTA>TTA	p.L832L	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.L675L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
RNF115	27246	broad.mit.edu	37	1	145646131	145646131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145646131G>A	uc001eoj.2	+	2	323	c.119G>A	c.(118-120)AGA>AAA	p.R40K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_5'UTR|RNF115_uc009wiy.2_5'UTR	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	40					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PRKAB2	5565	broad.mit.edu	37	1	146633349	146633349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146633349G>A	uc001epe.2	-	7	828	c.683C>T	c.(682-684)GCC>GTC	p.A228V	PRKAB2_uc010ozm.1_Missense_Mutation_p.A146V|PRKAB2_uc010ozn.1_Missense_Mutation_p.P106S|PRKAB2_uc009wjf.1_Missense_Mutation_p.A228V	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	228					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)													---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146680462	146680462	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146680462A>G	uc001epi.2	-	6	1171	c.782T>C	c.(781-783)ATA>ACA	p.I261T	FMO5_uc001eph.3_Missense_Mutation_p.I261T|FMO5_uc001epj.2_Missense_Mutation_p.I261T|FMO5_uc001epk.3_Missense_Mutation_p.I261T	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	261						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)																	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146766192	146766192	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146766192A>G	uc001epm.3	+	22	2671	c.2608A>G	c.(2608-2610)ACT>GCT	p.T870A	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.T757A|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.T776A|CHD1L_uc010ozp.1_Missense_Mutation_p.T589A|CHD1L_uc001epo.3_Missense_Mutation_p.T666A|CHD1L_uc009wji.2_Missense_Mutation_p.T589A	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	870	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147090655	147090655	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147090655A>G	uc001epq.2	+	8	1434	c.694A>G	c.(694-696)AAA>GAA	p.K232E	BCL9_uc010ozr.1_Missense_Mutation_p.K158E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	232	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147131101	147131101	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147131101G>T	uc001epr.2	-	4	997	c.533C>A	c.(532-534)GCT>GAT	p.A178D	ACP6_uc009wjj.1_Missense_Mutation_p.A135D	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	178					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)																	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149857887	149857887	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149857887G>T	uc001etc.2	-	1	346	c.304C>A	c.(304-306)CTG>ATG	p.L102M	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	102					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858906	149858906	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858906A>G	uc001etd.2	+	1	382	c.382A>G	c.(382-384)AGC>GGC	p.S128G	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	128					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149880804	149880804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149880804C>T	uc001etg.2	-	8	1810	c.1319G>A	c.(1318-1320)GGT>GAT	p.G440D	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G440D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	440	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149884847	149884847	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149884847C>A	uc001etg.2	-	2	1037	c.546G>T	c.(544-546)GAG>GAT	p.E182D	SV2A_uc001eth.2_Missense_Mutation_p.E182D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	182	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149903306	149903306	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149903306C>T	uc001etl.3	-	13	1387	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	MTMR11_uc001etm.1_Missense_Mutation_p.R307H|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Intron	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	379	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916322	149916322	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149916322C>A	uc001etn.2	-	12	2322	c.1966G>T	c.(1966-1968)GGA>TGA	p.G656*		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	656					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150065723	150065723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150065723G>A	uc001etp.2	+	13	2045	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.G455D|VPS45_uc010pbs.1_Missense_Mutation_p.G386D|VPS45_uc001etq.2_Missense_Mutation_p.G311D|VPS45_uc009wlm.1_Missense_Mutation_p.G467D	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	491					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444063	150444063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444063C>T	uc009wlr.2	+	11	2840	c.2639C>T	c.(2638-2640)GCC>GTC	p.A880V	RPRD2_uc010pcc.1_Missense_Mutation_p.A854V|RPRD2_uc001eup.3_Missense_Mutation_p.A854V	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	880	Ser-rich.						protein binding			ovary(1)	1																		---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444378	150444378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444378C>T	uc009wlr.2	+	11	3155	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M	RPRD2_uc010pcc.1_Silent_p.H912H|RPRD2_uc001eup.3_Missense_Mutation_p.T959M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	985							protein binding			ovary(1)	1																		---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150525402	150525402	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150525402C>A	uc001eux.2	+	5	343	c.107C>A	c.(106-108)CCT>CAT	p.P36H	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P36H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P36H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	36					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530529	150530529	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150530529C>A	uc001eux.2	+	14	2522	c.2286C>A	c.(2284-2286)CCC>CCA	p.P762P	ADAMTSL4_uc001euw.2_Silent_p.P762P|ADAMTSL4_uc009wlw.2_Silent_p.P785P|ADAMTSL4_uc010pcg.1_Silent_p.P723P|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	762	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150531943	150531943	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150531943G>A	uc001eux.2	+	17	3179	c.2943_splice	c.e17+1	p.P981_splice	ADAMTSL4_uc009wlw.2_Splice_Site_p.P1004_splice|ADAMTSL4_uc010pcg.1_Splice_Site_p.P942_splice|ADAMTSL4_uc009wlx.2_Splice_Site_p.P144_splice	NM_019032	NP_061905			thrombospondin repeat containing 1 isoform 1						apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)													OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151021160	151021160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151021160C>T	uc001ewn.2	+	1	902	c.837C>T	c.(835-837)ACC>ACT	p.T279T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	279						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)													OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMOD4	29765	broad.mit.edu	37	1	151143549	151143549	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151143549A>G	uc001exc.3	-						TMOD4_uc001exb.2_Intron|TMOD4_uc001exd.2_Intron|TMOD4_uc010pct.1_Intron	NM_013353	NP_037485			tropomodulin 4 (muscle)						muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151214608	151214608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151214608C>T	uc001exj.2	+	13	1825	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	PIP5K1A_uc001exi.2_Missense_Mutation_p.S445F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S418F|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	458					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151280078	151280078	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151280078T>G	uc001ext.2	-	4	1569	c.1154A>C	c.(1153-1155)CAG>CCG	p.Q385P	PI4KB_uc001exr.2_Missense_Mutation_p.Q397P|PI4KB_uc001exs.2_Missense_Mutation_p.Q370P|PI4KB_uc001exu.2_Missense_Mutation_p.Q370P|PI4KB_uc010pcw.1_Missense_Mutation_p.Q53P	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	385					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151315256	151315256	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151315256T>C	uc001exv.1	-	11	1471	c.1257A>G	c.(1255-1257)ATA>ATG	p.I419M	RFX5_uc001exw.1_Missense_Mutation_p.I419M|RFX5_uc009wmr.1_Missense_Mutation_p.I419M|RFX5_uc010pcx.1_Missense_Mutation_p.I379M	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	419						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151317258	151317258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151317258A>G	uc001exv.1	-	6	513	c.299T>C	c.(298-300)CTG>CCG	p.L100P	RFX5_uc001exw.1_Missense_Mutation_p.L100P|RFX5_uc009wmr.1_Missense_Mutation_p.L100P|RFX5_uc010pcx.1_Intron	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	100	RFX-type winged-helix.|Potential.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151378320	151378320	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151378320C>T	uc001eyd.1	-	19	3497	c.3191G>A	c.(3190-3192)GGG>GAG	p.G1064E	POGZ_uc001eye.1_Missense_Mutation_p.G1011E|POGZ_uc010pdb.1_Missense_Mutation_p.G1055E|POGZ_uc001eyf.1_Missense_Mutation_p.G1020E|POGZ_uc010pdc.1_Missense_Mutation_p.G1002E|POGZ_uc009wmv.1_Missense_Mutation_p.G969E|POGZ_uc010pdd.1_Missense_Mutation_p.G555E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1064	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151380621	151380621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151380621C>T	uc001eyd.1	-	15	2636	c.2330G>A	c.(2329-2331)CGC>CAC	p.R777H	POGZ_uc001eye.1_Missense_Mutation_p.R724H|POGZ_uc010pdb.1_Missense_Mutation_p.R768H|POGZ_uc001eyf.1_Missense_Mutation_p.R733H|POGZ_uc010pdc.1_Missense_Mutation_p.R715H|POGZ_uc009wmv.1_Missense_Mutation_p.R682H|POGZ_uc010pdd.1_Missense_Mutation_p.R268H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	777	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151400884	151400884	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151400884C>A	uc001eyd.1	-	6	880	c.574G>T	c.(574-576)GGT>TGT	p.G192C	POGZ_uc001eye.1_Missense_Mutation_p.G139C|POGZ_uc010pdb.1_Missense_Mutation_p.G192C|POGZ_uc001eyf.1_Missense_Mutation_p.G139C|POGZ_uc010pdc.1_Missense_Mutation_p.G139C|POGZ_uc009wmv.1_Missense_Mutation_p.G97C|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.G192C	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	192					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.G192D(1)		ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151506503	151506503	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151506503C>T	uc009wmw.2	+	15	2939	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	CGN_uc010pde.1_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	926	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151509216	151509216	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151509216G>A	uc009wmw.2	+	20	3461	c.3317G>A	c.(3316-3318)AGG>AAG	p.R1106K	CGN_uc010pde.1_Missense_Mutation_p.R100K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1100	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773766	151773766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151773766C>T	uc001ezf.1	-	2	1605	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	472	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058504	152058504	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152058504T>C	uc001ezo.1	-	3	1719	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	552							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083746	152083746	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152083746G>A	uc001ezp.2	-	2	1947	c.1947C>T	c.(1945-1947)CGC>CGT	p.R649R	TCHH_uc009wne.1_Silent_p.R649R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	649	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187664	152187664	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187664T>C	uc001ezt.1	-	3	6517	c.6441A>G	c.(6439-6441)GAA>GAG	p.E2147E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2147					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187726	152187726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187726A>G	uc001ezt.1	-	3	6455	c.6379T>C	c.(6379-6381)TCA>CCA	p.S2127P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2127	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187976	152187976	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187976A>G	uc001ezt.1	-	3	6205	c.6129T>C	c.(6127-6129)GGT>GGC	p.G2043G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2043	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191217	152191217	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152191217C>A	uc001ezt.1	-	3	2964	c.2888G>T	c.(2887-2889)AGG>ATG	p.R963M		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	963	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192748	152192748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152192748C>T	uc001ezt.1	-	3	1433	c.1357G>A	c.(1357-1359)GGC>AGC	p.G453S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	453	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152193216	152193216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275456	152275456	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152275456T>C	uc001ezu.1	-	3	11942	c.11906A>G	c.(11905-11907)CAA>CGA	p.Q3969R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3969					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152278805G>A	uc001ezu.1	-	3	8593	c.8557C>T	c.(8557-8559)CAC>TAC	p.H2853Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280937	152280937	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152280937G>A	uc001ezu.1	-	3	6461	c.6425C>T	c.(6424-6426)CCG>CTG	p.P2142L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282226	152282226	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152282226T>C	uc001ezu.1	-	3	5172	c.5136A>G	c.(5134-5136)CGA>CGG	p.R1712R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323458	152323458	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152323458T>G	uc001ezw.3	-	3	6877	c.6804A>C	c.(6802-6804)TCA>TCC	p.S2268S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2268							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325465	152325465	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152325465G>A	uc001ezw.3	-	3	4870	c.4797C>T	c.(4795-4797)TAC>TAT	p.Y1599Y	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152733357	152733357	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152733357T>C	uc001fal.1	+	2	1351	c.1293T>C	c.(1291-1293)TGT>TGC	p.C431C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	431	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152777882G>A	uc001fap.1	-	2	124	c.73C>T	c.(73-75)CCC>TCC	p.P25S		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
PGLYRP3	114771	broad.mit.edu	37	1	153274910	153274910	+	Missense_Mutation	SNP	G	A	A	rs149128791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153274910G>A	uc001fbn.1	-	5	756	c.703C>T	c.(703-705)CGG>TGG	p.R235W		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	235		Murein.			defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
S100A3	6274	broad.mit.edu	37	1	153520239	153520239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153520239A>G	uc001fca.1	-	3	308	c.225T>C	c.(223-225)TAT>TAC	p.Y75Y	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	75	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153653743	153653743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153653743T>C	uc001fcs.3	+	3	1430	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	NPR1_uc010pdz.1_Missense_Mutation_p.F83L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	337	Extracellular (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)													---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153713206	153713206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153713206C>T	uc009wom.2	+	3	451	c.230C>T	c.(229-231)GCG>GTG	p.A77V	INTS3_uc001fct.2_Missense_Mutation_p.A77V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	77					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153914821	153914821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153914821G>A	uc001fdd.1	-	5	1053	c.652C>T	c.(652-654)CGC>TGC	p.R218C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	218	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153916525	153916525	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153916525G>A	uc001fdd.1	-							NM_014856	NP_055671			DENN/MADD domain containing 4B											ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947178	153947178	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947178G>A	uc001fds.2	-	5	1141	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	140	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947216C>T	uc001fds.2	-	5	1103	c.380G>A	c.(379-381)CGT>CAT	p.R127H		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	127	Cytoplasmic (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153955047	153955047	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153955047G>A	uc001fdt.1	-	6	538	c.444C>T	c.(442-444)TTC>TTT	p.F148F	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	148					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153967602	153967602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153967602A>G	uc001fdw.2	-	38	5513	c.5441T>C	c.(5440-5442)CTG>CCG	p.L1814P	NUP210L_uc009woq.2_Missense_Mutation_p.L723P|NUP210L_uc010peh.1_Missense_Mutation_p.L1662P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1814	Helical; (Potential).					integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154091248	154091248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154091248G>A	uc001fdw.2	-	11	1435	c.1363C>T	c.(1363-1365)CAC>TAC	p.H455Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H455Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	455						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154228240	154228240	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154228240G>A	uc001fep.3	+						UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_Intron|UBAP2L_uc010pel.1_Intron|UBAP2L_uc010pen.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662			ubiquitin associated protein 2-like isoform a						binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544124	154544124	+	Silent	SNP	G	A	A	rs140739605		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154544124G>A	uc001ffg.2	+	5	1089	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	275	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)													---	---	---	---
ADAR	103	broad.mit.edu	37	1	154569657	154569657	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154569657T>C	uc001ffh.2	-	5	2221	c.2021A>G	c.(2020-2022)GAG>GGG	p.E674G	ADAR_uc001ffj.2_Missense_Mutation_p.E674G|ADAR_uc001ffi.2_Missense_Mutation_p.E674G|ADAR_uc001ffk.2_Missense_Mutation_p.E379G	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	674	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)														---	---	---	---
PMVK	10654	broad.mit.edu	37	1	154897634	154897634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154897634G>A	uc001ffq.2	-	5	873	c.550C>T	c.(550-552)CTG>TTG	p.L184L		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	184					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155147963	155147963	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155147963C>A	uc001fhs.1	+	2	248	c.165C>A	c.(163-165)GCC>GCA	p.A55A	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Silent_p.A42A|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.A55A|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Silent_p.A32A|TRIM46_uc009wpg.1_Silent_p.A42A|TRIM46_uc009wpf.2_Silent_p.A42A|TRIM46_uc001fhv.3_Silent_p.A42A|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	55	RING-type 1; degenerate.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155154445	155154445	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155154445G>A	uc001fhs.1	+	9	1789	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R443Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R546Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R556Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	569	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155169629	155169629	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155169629G>T	uc001fix.2	-	16	1869	c.1846C>A	c.(1846-1848)CTG>ATG	p.L616M	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.L607M|THBS3_uc001fiz.2_Missense_Mutation_p.L579M|THBS3_uc001fiy.2_Missense_Mutation_p.L145M|THBS3_uc010pfu.1_Missense_Mutation_p.L496M|THBS3_uc010pfv.1_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	616	TSP type-3 6.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155220430	155220430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155220430G>A	uc001fjm.2	-	9	1753	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R185W|FAM189B_uc001fjn.2_Missense_Mutation_p.R287W|FAM189B_uc001fjo.2_Missense_Mutation_p.R365W|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	383						integral to membrane	WW domain binding			ovary(1)|breast(1)	2																		---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155226553	155226553	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155226553T>A	uc001fjs.2	-	8	1062	c.809A>T	c.(808-810)AAG>ATG	p.K270M	RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.K117M|SCAMP3_uc001fju.2_Missense_Mutation_p.K256M|SCAMP3_uc001fjv.2_Missense_Mutation_p.R266W|SCAMP3_uc001fjt.2_Missense_Mutation_p.K244M	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	270					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FDPS	2224	broad.mit.edu	37	1	155289429	155289429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155289429G>A	uc001fkc.2	+	9	1093	c.874G>A	c.(874-876)GCC>ACC	p.A292T	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A226T|FDPS_uc001fke.2_Missense_Mutation_p.A292T|FDPS_uc001fkf.2_Missense_Mutation_p.A226T|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	292					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)													---	---	---	---
C1orf104	284618	broad.mit.edu	37	1	155290616	155290616	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155290616C>A	uc001fki.2	-	2	941	c.664G>T	c.(664-666)GCG>TCG	p.A222S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	222											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155349857	155349857	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155349857G>T	uc009wqq.2	-	8	6649	c.6169C>A	c.(6169-6171)CTT>ATT	p.L2057I	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.L2052I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2057					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449639	155449639	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155449639A>G	uc009wqq.2	-	3	3502	c.3022T>C	c.(3022-3024)TCA>CCA	p.S1008P	ASH1L_uc001fkt.2_Missense_Mutation_p.S1008P|ASH1L_uc009wqr.1_Missense_Mutation_p.S1008P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1008					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450153	155450153	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450153C>T	uc009wqq.2	-	3	2988	c.2508G>A	c.(2506-2508)ATG>ATA	p.M836I	ASH1L_uc001fkt.2_Missense_Mutation_p.M836I|ASH1L_uc009wqr.1_Missense_Mutation_p.M836I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	836					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450980	155450980	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155450980T>C	uc009wqq.2	-	3	2161	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	ASH1L_uc001fkt.2_Missense_Mutation_p.T561A|ASH1L_uc009wqr.1_Missense_Mutation_p.T561A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	561					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155451081	155451081	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155451081C>T	uc009wqq.2	-	3	2060	c.1580G>A	c.(1579-1581)TGC>TAC	p.C527Y	ASH1L_uc001fkt.2_Missense_Mutation_p.C527Y|ASH1L_uc009wqr.1_Missense_Mutation_p.C527Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	527					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155721929	155721929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155721929A>T	uc001flz.2	-	30	6392	c.6295T>A	c.(6295-6297)TCA>ACA	p.S2099T	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S2098T|GON4L_uc009wrh.1_Missense_Mutation_p.S2098T|GON4L_uc001fma.1_Missense_Mutation_p.S2099T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2099					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838037	155838037	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155838037C>T	uc001fmg.2	+	2	579	c.316C>T	c.(316-318)CGA>TGA	p.R106*	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)															---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155891401	155891401	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155891401G>T	uc001fmi.1	-	10	1055	c.1031C>A	c.(1030-1032)GCT>GAT	p.A344D	KIAA0907_uc001fmj.1_Missense_Mutation_p.A344D|KIAA0907_uc009wrk.1_Missense_Mutation_p.A201D|KIAA0907_uc009wrl.1_Intron|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Intron	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	344	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)															---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156446831	156446831	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156446831C>A	uc001fpc.2	-	7	1218	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	MEF2D_uc001fpb.2_Missense_Mutation_p.Q276H|MEF2D_uc001fpd.2_Missense_Mutation_p.Q276H|MEF2D_uc001fpe.1_Missense_Mutation_p.Q276H|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	276					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156452228	156452228	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156452228C>T	uc001fpc.2	-	3	648	c.258_splice	c.e3+1	p.E86_splice	MEF2D_uc001fpb.2_Splice_Site_p.E86_splice|MEF2D_uc001fpd.2_Splice_Site_p.E86_splice|MEF2D_uc001fpe.1_Splice_Site_p.E86_splice|MEF2D_uc009wsa.2_Splice_Site	NM_005920	NP_005911			myocyte enhancer factor 2D						apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156498800	156498800	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156498800G>T	uc001fpf.2	-	35	4554	c.4479C>A	c.(4477-4479)GGC>GGA	p.G1493G		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1493					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156500056	156500056	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156500056T>C	uc001fpf.2	-	34	4320	c.4245A>G	c.(4243-4245)ACA>ACG	p.T1415T		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1415					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156518533	156518533	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156518533A>G	uc001fpf.2	-	17	1908	c.1833T>C	c.(1831-1833)CTT>CTC	p.L611L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	611					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156621427	156621427	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156621427G>T	uc001fpp.2	+	7	1579	c.1243G>T	c.(1243-1245)GGA>TGA	p.G415*	BCAN_uc001fpo.2_Nonsense_Mutation_p.G415*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	415	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642735	156642735	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156642735G>T	uc001fpq.2	-	4	1378	c.1245C>A	c.(1243-1245)CTC>CTA	p.L415L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	415	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156697311	156697311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156697311T>C	uc001fps.1	-	1	395	c.134A>G	c.(133-135)AAC>AGC	p.N45S	ISG20L2_uc001fpt.1_Missense_Mutation_p.N45S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	45					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf66	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156703256C>T	uc001fpu.2	+	5	1214	c.580C>T	c.(580-582)CGC>TGC	p.R194C	C1orf66_uc001fpv.2_Missense_Mutation_p.R194C	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	194	Potential.					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156756637	156756637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156756637G>A	uc001fqa.2	+	3	1044	c.754G>A	c.(754-756)GCT>ACT	p.A252T	PRCC_uc001fqb.2_Missense_Mutation_p.A252T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	252					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							T	TFE3	papillary renal 								---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156814013	156814013	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156814013G>A	uc010pht.1	-	15	3051	c.2797C>T	c.(2797-2799)CTG>TTG	p.L933L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	933	Helical; (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf92	149499	broad.mit.edu	37	1	156897405	156897405	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156897405T>G	uc001fqm.2	+	7	952	c.780T>G	c.(778-780)GGT>GGG	p.G260G	C1orf92_uc001fql.2_Silent_p.G45G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	260	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)															OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156914939	156914939	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156914939C>T	uc001fqo.2	-	29	3783	c.2743G>A	c.(2743-2745)GAG>AAG	p.E915K	ARHGEF11_uc010phu.1_Missense_Mutation_p.E331K|ARHGEF11_uc001fqn.2_Missense_Mutation_p.E955K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	915	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156916542	156916542	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156916542G>A	uc001fqo.2	-	27	3526	c.2486C>T	c.(2485-2487)GCT>GTT	p.A829V	ARHGEF11_uc010phu.1_Missense_Mutation_p.A245V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A869V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	829	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156918229	156918229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156941587	156941587	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156941587G>A	uc001fqo.2	-						ARHGEF11_uc001fqn.2_Missense_Mutation_p.R202W	NM_014784	NP_055599			Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488498	157488498	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488498T>A	uc001fqu.2	-	14	2893	c.2735A>T	c.(2734-2736)TAC>TTC	p.Y912F	FCRL5_uc009wsm.2_Missense_Mutation_p.Y912F	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	912	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157488576	157488576	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157488576T>C	uc001fqu.2	-						FCRL5_uc009wsm.2_Intron	NM_031281	NP_112571			Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157739769	157739769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157739769T>C	uc001fre.2	-	4	541	c.482A>G	c.(481-483)GAG>GGG	p.E161G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E161G|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E161G	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	161	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---
CD1D	912	broad.mit.edu	37	1	158152735	158152735	+	Silent	SNP	T	C	C	rs141805163		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158152735T>C	uc001frr.2	+	5	1174	c.675T>C	c.(673-675)CAT>CAC	p.H225H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	225	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450322	158450322	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158450322A>T	uc010pik.1	+	1	655	c.655A>T	c.(655-657)ATA>TTA	p.I219L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576558	158576558	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576558T>C	uc010pio.1	+	1	330	c.330T>C	c.(328-330)ACT>ACC	p.T110T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576645	158576645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576645C>T	uc010pio.1	+	1	417	c.417C>T	c.(415-417)ACC>ACT	p.T139T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158589953	158589953	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158589953A>C	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158621206	158621206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158621206T>A	uc001fst.1	-	24	3627	c.3428A>T	c.(3427-3429)GAT>GTT	p.D1143V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1143	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158622391	158622391	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158622391G>A	uc001fst.1	-	23	3440	c.3241C>T	c.(3241-3243)CGT>TGT	p.R1081C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1081					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158626356	158626356	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158626356G>T	uc001fst.1	-	20	3095	c.2896C>A	c.(2896-2898)CAG>AAG	p.Q966K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	966	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687118	158687118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687118T>C	uc010pip.1	-	1	836	c.836A>G	c.(835-837)GAC>GGC	p.D279G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687335	158687335	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687335C>G	uc010pip.1	-	1	619	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	207	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158724839	158724839	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158724839G>T	uc001fsw.1	+	1	234	c.234G>T	c.(232-234)CAG>CAT	p.Q78H		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	78	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158986335	158986335	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158986335T>C	uc001ftf.1	+	5	1001	c.394T>C	c.(394-396)TCA>CCA	p.S132P	IFI16_uc001ftg.2_Missense_Mutation_p.S132P|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	132	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683503	159683503	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159683503T>A	uc001ftw.2	-	2	591	c.487A>T	c.(487-489)AAC>TAC	p.N163Y	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	163	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)													---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159778831	159778831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159778831A>G	uc001fud.3	+	4	442	c.400A>G	c.(400-402)ACA>GCA	p.T134A	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.T141A|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.T134A	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	134	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159780016	159780016	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159780016T>A	uc001fud.3	+						FCRL6_uc001fuc.2_Intron|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Intron	NM_001004310	NP_001004310			Fc receptor-like 6 precursor							integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)																	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159901373	159901373	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159901373G>T	uc001fur.2	-	12	1581	c.1383C>A	c.(1381-1383)GGC>GGA	p.G461G	IGSF9_uc001fuq.2_Silent_p.G445G|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	461	Ig-like 5.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923322	159923322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923322G>T	uc001fus.2	-	2	285	c.168C>A	c.(166-168)TCC>TCA	p.S56S	SLAMF9_uc009wtd.2_Silent_p.S56S|SLAMF9_uc001fut.2_Silent_p.S56S	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	56	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923879	159923879	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159923879C>T	uc001fus.2	-						SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273			SLAM family member 9 isoform 1							integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012208	160012208	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160012208C>T	uc001fuw.1	-	2	265	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	39	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098618	160098618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160098618T>C	uc001fvc.2	+	9	1326	c.1194T>C	c.(1192-1194)GCT>GCC	p.A398A	ATP1A2_uc001fvb.2_Silent_p.A398A|ATP1A2_uc010piz.1_Silent_p.A243A|ATP1A2_uc001fvd.2_Silent_p.A134A|ATP1A2_uc009wtg.1_Silent_p.A86A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	398	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160099949	160099949	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160099949G>A	uc001fvc.2	+	12	1651	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A507T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A243T|ATP1A2_uc009wtg.1_Missense_Mutation_p.A195T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	507	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160164845	160164845	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160164845T>C	uc010pja.1	+	4	766	c.509T>C	c.(508-510)CTG>CCG	p.L170P		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	170						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160187442	160187442	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160187442G>A	uc001fvo.2	-	14	2046	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	DCAF8_uc001fvn.2_Silent_p.S578S|DCAF8_uc009wth.2_Silent_p.S578S|DCAF8_uc010pjb.1_Silent_p.S578S|DCAF8_uc010pjc.1_Silent_p.S732S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2																		---	---	---	---
COPA	1314	broad.mit.edu	37	1	160261161	160261161	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160261161T>C	uc009wti.2	-	31	3778	c.3384A>G	c.(3382-3384)CTA>CTG	p.L1128L	COPA_uc001fvv.3_Silent_p.L1137L	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	1128					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)													OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160264607	160264607	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160264607A>G	uc009wti.2	-	24	2911	c.2517T>C	c.(2515-2517)ACT>ACC	p.T839T	COPA_uc001fvv.3_Silent_p.T848T	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	839					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
COPA	1314	broad.mit.edu	37	1	160268779	160268779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160268779T>C	uc009wti.2	-	19	2227	c.1833A>G	c.(1831-1833)GTA>GTG	p.V611V	COPA_uc001fvv.3_Silent_p.V620V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	611					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160322757	160322757	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160322757T>C	uc001fvx.2	+	9	1201	c.1077T>C	c.(1075-1077)GTT>GTC	p.V359V	NCSTN_uc001fvy.2_Silent_p.V339V|NCSTN_uc010pjf.1_Silent_p.V221V|NCSTN_uc001fvz.2_Silent_p.V139V|NCSTN_uc010pjg.1_Silent_p.V101V	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	359	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160385846	160385846	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160385846C>T	uc001fwb.1	+						VANGL2_uc001fwc.1_Intron	NM_020335	NP_065068			vang-like 2						apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160580589	160580589	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160580589C>A	uc001fwl.3	-						SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028			signaling lymphocytic activation molecule family						interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607140	160607140	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607140C>T	uc001fwl.3	-	2	602	c.256G>A	c.(256-258)GCA>ACA	p.A86T	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.A86T	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	86	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
CD48	962	broad.mit.edu	37	1	160654897	160654897	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160654897T>C	uc001fwn.2	-	2	197	c.165A>G	c.(163-165)CAA>CAG	p.Q55Q	CD48_uc001fwo.1_Silent_p.Q55Q|CD48_uc001fwp.2_Silent_p.Q55Q	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	55	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
SLAMF7	57823	broad.mit.edu	37	1	160718142	160718142	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160718142G>T	uc001fwq.2	+	2	229	c.214G>T	c.(214-216)GTG>TTG	p.V72L	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.V72L|SLAMF7_uc010pjo.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.V72L|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	72	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
ITLN1	55600	broad.mit.edu	37	1	160850383	160850383	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160850383C>T	uc001fxc.2	-	6	796	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	227	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)															---	---	---	---
USF1	7391	broad.mit.edu	37	1	161009746	161009746	+	Silent	SNP	G	A	A	rs146372368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161009746G>A	uc001fxi.2	-	11	1092	c.897C>T	c.(895-897)CAC>CAT	p.H299H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.H240H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	299					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
PPOX	5498	broad.mit.edu	37	1	161137170	161137170	+	Missense_Mutation	SNP	C	T	T	rs78028107		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161137170C>T	uc001fyj.2	+	4	522	c.232C>T	c.(232-234)CTT>TTT	p.L78F	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L78F|PPOX_uc001fyl.2_Missense_Mutation_p.L44F|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	78					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											Porphyria_Variegata				---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161201198	161201198	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161201198T>C	uc001fzx.2	-	6	818	c.615A>G	c.(613-615)GTA>GTG	p.V205V	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.V205V|NR1I3_uc001fzg.2_Silent_p.V176V|NR1I3_uc001fzh.2_Silent_p.V176V|NR1I3_uc001fzi.2_Silent_p.V176V|NR1I3_uc001fzj.2_Silent_p.V176V|NR1I3_uc001fzk.2_Silent_p.V176V|NR1I3_uc001fzl.2_Silent_p.V176V|NR1I3_uc001fzm.2_Silent_p.V130V|NR1I3_uc001fzn.2_Silent_p.V38V|NR1I3_uc009wug.2_Silent_p.V38V|NR1I3_uc001fzp.2_Silent_p.V205V|NR1I3_uc001fzo.2_Silent_p.V38V|NR1I3_uc001fzq.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzr.2_Missense_Mutation_p.Y102C|NR1I3_uc001fzs.2_Silent_p.V38V|NR1I3_uc001fzt.2_Silent_p.V38V|NR1I3_uc001fzu.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzv.2_Missense_Mutation_p.Y73C|NR1I3_uc001fzw.2_Silent_p.V205V|NR1I3_uc001fzy.2_Silent_p.V205V|NR1I3_uc001fzz.2_Silent_p.V205V|NR1I3_uc001gaa.2_Silent_p.V205V|NR1I3_uc001gab.2_Silent_p.V205V|NR1I3_uc001gac.2_Silent_p.V176V|NR1I3_uc010pkm.1_Silent_p.V176V|NR1I3_uc010pkn.1_Silent_p.V205V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	205					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161203072	161203072	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161203072C>T	uc001fzx.2	-	4	498	c.295G>A	c.(295-297)GCA>ACA	p.A99T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A99T|NR1I3_uc001fzg.2_Missense_Mutation_p.A70T|NR1I3_uc001fzh.2_Missense_Mutation_p.A70T|NR1I3_uc001fzi.2_Missense_Mutation_p.A70T|NR1I3_uc001fzj.2_Missense_Mutation_p.A70T|NR1I3_uc001fzk.2_Missense_Mutation_p.A70T|NR1I3_uc001fzl.2_Missense_Mutation_p.A70T|NR1I3_uc001fzm.2_Missense_Mutation_p.A24T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A99T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A99T|NR1I3_uc001fzy.2_Missense_Mutation_p.A99T|NR1I3_uc001fzz.2_Missense_Mutation_p.A99T|NR1I3_uc001gaa.2_Missense_Mutation_p.A99T|NR1I3_uc001gab.2_Missense_Mutation_p.A99T|NR1I3_uc001gac.2_Missense_Mutation_p.A70T|NR1I3_uc010pkm.1_Missense_Mutation_p.A70T|NR1I3_uc010pkn.1_Missense_Mutation_p.A99T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161284191	161284191	+	5'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161284191C>A	uc001gag.2	+	1					SDHC_uc001gai.2_5'UTR|SDHC_uc001gaj.2_5'UTR|SDHC_uc001gak.2_5'UTR|SDHC_uc001gah.2_5'Flank	NM_003001	NP_002992			succinate dehydrogenase complex, subunit C						respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495350	161495350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495350G>A	uc001gap.2	+	2	1562	c.902G>A	c.(901-903)CGT>CAT	p.R301H	HSPA6_uc001gaq.2_Missense_Mutation_p.R301H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	301					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495882	161495882	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495882G>A	uc001gap.2	+	2	2094	c.1434G>A	c.(1432-1434)GTG>GTA	p.V478V	HSPA6_uc001gaq.2_Silent_p.V478V	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	478					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
FCGR3B	2215	broad.mit.edu	37	1	161599765	161599765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161599765T>C	uc009wul.2	-	3	396	c.122A>G	c.(121-123)GAC>GGC	p.D41G		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	41	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161697222	161697222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161697222C>T	uc001gbh.2	+	8	1285	c.1051C>T	c.(1051-1053)CCA>TCA	p.P351S	FCRLB_uc009wus.2_Missense_Mutation_p.P351S|FCRLB_uc001gbj.2_Silent_p.G302G|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.G295G|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.P351S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	351						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)															---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161789480	161789480	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161789480T>A	uc001gbr.2	+	8	1034	c.967T>A	c.(967-969)TCT>ACT	p.S323T	ATF6_uc001gbq.1_Missense_Mutation_p.S323T	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	323	Basic motif.|Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)															---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161954054	161954054	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161954054T>A	uc001gbu.2	-	8	2088	c.1664A>T	c.(1663-1665)AAT>ATT	p.N555I	OLFML2B_uc001gbt.2_Missense_Mutation_p.N38I|OLFML2B_uc010pkq.1_Missense_Mutation_p.N556I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	555	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162313640	162313640	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162313640A>G	uc001gbv.2	+	6	856	c.469A>G	c.(469-471)ATC>GTC	p.I157V	NOS1AP_uc010pkr.1_Missense_Mutation_p.I152V|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.I152V	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	157	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)															---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162469877	162469877	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162469877T>C	uc001gcc.1	+	2	537	c.401T>C	c.(400-402)ATG>ACG	p.M134T	UHMK1_uc001gcb.1_Missense_Mutation_p.M60T|UHMK1_uc009wuu.1_Missense_Mutation_p.M134T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	134	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)															---	---	---	---
HSD17B7	51478	broad.mit.edu	37	1	162766377	162766377	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162766377T>G	uc001gci.2	+	3	337	c.242T>G	c.(241-243)TTT>TGT	p.F81C	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	81	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)													---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163117247	163117247	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:163117247A>C	uc001gcn.2	-	5	678	c.431T>G	c.(430-432)GTG>GGG	p.V144G	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	144	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)															---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818552	166818552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818552G>A	uc001gdt.1	+	5	856	c.736G>A	c.(736-738)GCC>ACC	p.A246T	POGK_uc010ple.1_Missense_Mutation_p.A161T|POGK_uc010plf.1_Missense_Mutation_p.A128T	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	246					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818591	166818591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818591T>C	uc001gdt.1	+	5	895	c.775T>C	c.(775-777)TTT>CTT	p.F259L	POGK_uc010ple.1_Missense_Mutation_p.F174L|POGK_uc010plf.1_Missense_Mutation_p.F141L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	259	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166962057	166962057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166962057T>C	uc001gdy.1	+	4	531	c.460T>C	c.(460-462)TTC>CTC	p.F154L	MAEL_uc001gdz.1_Missense_Mutation_p.F123L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	154					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167844425	167844425	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167844425C>A	uc001ger.2	-	13	1705	c.1407_splice	c.e13-1	p.V469_splice	ADCY10_uc009wvk.2_Splice_Site_p.V377_splice|ADCY10_uc010plj.1_Splice_Site_p.V316_splice|ADCY10_uc009wvl.2_Splice_Site_p.V468_splice	NM_018417	NP_060887			adenylate cyclase 10						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168250426	168250426	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168250426A>C	uc001gfl.2	+	1	149	c.98A>C	c.(97-99)AAA>ACA	p.K33T	TBX19_uc001gfj.3_Intron	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	33					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168278029	168278029	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168278029T>C	uc001gfl.2	+	7	1017	c.966T>C	c.(964-966)CCT>CCC	p.P322P	TBX19_uc001gfj.3_Silent_p.P190P|TBX19_uc001gfm.2_Silent_p.P25P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	322					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
C1orf114	57821	broad.mit.edu	37	1	169366587	169366587	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169366587T>A	uc001gga.1	-	5	1426	c.1258A>T	c.(1258-1260)AAA>TAA	p.K420*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.K419*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.K419*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	420											0	all_hematologic(923;0.208)																	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169435124	169435124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169435124T>C	uc001gge.3	-	6	1661	c.1457A>G	c.(1456-1458)GAA>GGA	p.E486G	SLC19A2_uc001ggf.3_Missense_Mutation_p.E285G	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	486	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)																	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510886	169510886	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510886A>T	uc001ggg.1	-	13	3587	c.3442T>A	c.(3442-3444)TCC>ACC	p.S1148T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1148	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
F5	2153	broad.mit.edu	37	1	169519212	169519212	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169519212T>G	uc001ggg.1	-	10	1583	c.1438A>C	c.(1438-1440)ACC>CCC	p.T480P	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	480	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
SELE	6401	broad.mit.edu	37	1	169702011	169702011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169702011T>C	uc001ggm.3	-	3	323	c.166A>G	c.(166-168)ATT>GTT	p.I56V	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	56	Extracellular (Potential).|C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169845114	169845114	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169845114C>T	uc001ggs.2	-						SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607			SCY1-like 3 isoform 2						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169847941	169847941	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169847941T>A	uc001ggs.2	-	3	383	c.185A>T	c.(184-186)CAC>CTC	p.H62L	SCYL3_uc001ggt.2_Missense_Mutation_p.H62L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	62	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170003615	170003615	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170003615T>C	uc001ggv.2	-	7	911	c.640A>G	c.(640-642)ATT>GTT	p.I214V	KIFAP3_uc010ply.1_Missense_Mutation_p.I136V|KIFAP3_uc001ggw.1_Missense_Mutation_p.I170V	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	214					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171244546	171244546	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171244546T>C	uc009wvz.2	+	4	519	c.383T>C	c.(382-384)GTC>GCC	p.V128A	FMO1_uc010pme.1_Missense_Mutation_p.V65A|FMO1_uc001ghl.2_Missense_Mutation_p.V128A|FMO1_uc001ghm.2_Missense_Mutation_p.V128A|FMO1_uc001ghn.2_Missense_Mutation_p.V128A	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	128					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171535990	171535990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171535990A>G	uc010pmg.1	+						BAT2L2_uc010pmh.1_Intron|BAT2L2_uc010pmi.1_Intron	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
VAMP4	8674	broad.mit.edu	37	1	171707551	171707551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171707551G>A	uc001ghx.1	-	2	218	c.4C>T	c.(4-6)CCT>TCT	p.P2S	VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.P2S	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	2	Cytoplasmic (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753267	171753267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171753267G>A	uc001ghz.2	+	2	888	c.541G>A	c.(541-543)GTG>ATG	p.V181M	METTL13_uc001gia.2_Missense_Mutation_p.V95M|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.V180M	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	181							methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171761377	171761377	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171761377T>C	uc001ghz.2	+	6	2040	c.1693_splice	c.e6+2	p.A565_splice	METTL13_uc001gia.2_Splice_Site_p.A479_splice|METTL13_uc001gib.2_Splice_Site_p.A409_splice|METTL13_uc010pml.1_Splice_Site_p.A564_splice|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019			CGI-01 protein isoform 1								methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172357785	172357785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172357785C>T	uc001gie.2	+	20	2534	c.2358C>T	c.(2356-2358)GGC>GGT	p.G786G	DNM3_uc001gif.2_Silent_p.G782G|DNM3_uc001gih.1_Silent_p.G142G	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	792					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---
PIGC	5279	broad.mit.edu	37	1	172411759	172411759	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172411759A>G	uc001gil.2	-	2	285	c.4T>C	c.(4-6)TAT>CAT	p.Y2H	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.Y2H|PIGC_uc001gio.2_Missense_Mutation_p.Y2H	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	2					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
FASLG	356	broad.mit.edu	37	1	172635150	172635150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172635150G>A	uc001gis.2	+	4	997	c.840G>A	c.(838-840)AAG>AAA	p.K280K	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	280	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3																		---	---	---	---
TNFSF4	7292	broad.mit.edu	37	1	173157719	173157719	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173157719A>G	uc001giw.2	-						TNFSF4_uc001giv.2_Intron	NM_003326	NP_003317			tumor necrosis factor (ligand) superfamily,						acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1																		---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173456932	173456932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173456932T>A	uc001giy.1	+	5	656	c.605T>A	c.(604-606)TTC>TAC	p.F202Y		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	202					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173516834	173516834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173516834T>C	uc001giz.2	-	13	1974	c.1551A>G	c.(1549-1551)ATA>ATG	p.I517M	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75M|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173523865	173523865	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173523865A>G	uc001giz.2	-						SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622			solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
CENPL	91687	broad.mit.edu	37	1	173780280	173780280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173780280G>A	uc001gje.3	-	2	372	c.158C>T	c.(157-159)TCG>TTG	p.S53L	CENPL_uc009wwg.2_5'UTR|CENPL_uc001gjg.3_Missense_Mutation_p.S53L|CENPL_uc001gjf.3_Missense_Mutation_p.S53L	NM_033319	NP_201576	Q8N0S6	CENPL_HUMAN	centromere protein L isoform 2	53					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0																		---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173934070	173934070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173934070A>G	uc001gju.3	-	9	1610	c.1523T>C	c.(1522-1524)ATT>ACT	p.I508T	RC3H1_uc010pms.1_Missense_Mutation_p.I508T|RC3H1_uc001gjv.2_Missense_Mutation_p.I508T|RC3H1_uc010pmt.1_Missense_Mutation_p.I508T	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	508					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174221683	174221683	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174221683T>C	uc001gjx.2	+	7	1136	c.941T>C	c.(940-942)GTG>GCG	p.V314A	RABGAP1L_uc009wwq.1_Missense_Mutation_p.V326A|RABGAP1L_uc001gjw.2_Missense_Mutation_p.V277A|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	314					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417491	174417491	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174417491A>T	uc001gka.1	+	1	280	c.242A>T	c.(241-243)CAG>CTG	p.Q81L	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	81	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671273	174671273	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671273G>A	uc001gjx.2	+	17	2243	c.2048G>A	c.(2047-2049)AGC>AAC	p.S683N	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Missense_Mutation_p.S9N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	683	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174671283	174671283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174671283T>C	uc001gjx.2	+	17	2253	c.2058T>C	c.(2056-2058)TCT>TCC	p.S686S	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Silent_p.S12S	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	686	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335099	175335099	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175335099A>T	uc001gkp.1	-	9	2310	c.2229T>A	c.(2227-2229)GAT>GAA	p.D743E	TNR_uc009wwu.1_Missense_Mutation_p.D743E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	743	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372423	175372423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372423C>T	uc001gkp.1	-	2	910	c.829G>A	c.(829-831)GCC>ACC	p.A277T	TNR_uc009wwu.1_Missense_Mutation_p.A277T|TNR_uc010pmz.1_Missense_Mutation_p.A277T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	277	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372644	175372644	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372644T>C	uc001gkp.1	-	2	689	c.608A>G	c.(607-609)TAC>TGC	p.Y203C	TNR_uc009wwu.1_Missense_Mutation_p.Y203C|TNR_uc010pmz.1_Missense_Mutation_p.Y203C	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	203	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525547	176525547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176525547G>A	uc001gkz.2	+	2	1253	c.89G>A	c.(88-90)CGC>CAC	p.R30H	PAPPA2_uc001gky.1_Missense_Mutation_p.R30H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	30					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679181	176679181	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679181A>C	uc001gkz.2	+	11	4684	c.3520A>C	c.(3520-3522)ACC>CCC	p.T1174P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1174					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679281	176679281	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176679281T>A	uc001gkz.2	+	11	4784	c.3620T>A	c.(3619-3621)GTT>GAT	p.V1207D	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838049	176838049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176838049T>C	uc001glc.2	-	22	3790	c.3578A>G	c.(3577-3579)TAC>TGC	p.Y1193C	ASTN1_uc001glb.1_Missense_Mutation_p.Y1193C|ASTN1_uc001gld.1_Missense_Mutation_p.Y1193C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1201					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176853605	176853605	+	Silent	SNP	G	A	A	rs144434019		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176853605G>A	uc001glc.2	-	19	3308	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ASTN1_uc001glb.1_Silent_p.H1032H|ASTN1_uc001gld.1_Silent_p.H1032H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1040	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---
FAM5B	57795	broad.mit.edu	37	1	177250429	177250429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177250429A>G	uc001glf.2	+	8	2429	c.2117A>G	c.(2116-2118)TAC>TGC	p.Y706C	FAM5B_uc001glg.2_Missense_Mutation_p.Y601C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	706						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178252710	178252710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178252710C>T	uc001glq.2	+	2	978	c.214C>T	c.(214-216)CCA>TCA	p.P72S	RASAL2_uc009wxb.2_Missense_Mutation_p.P72S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5																		---	---	---	---
C1orf125	126859	broad.mit.edu	37	1	179363085	179363085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179363085A>G	uc001gmo.2	+	10	1038	c.911A>G	c.(910-912)GAT>GGT	p.D304G	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.D92G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D304G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	304											0																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179983259	179983259	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179983259A>G	uc001gnt.2	+	10	2054	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CEP350_uc009wxl.2_Silent_p.S556S|CEP350_uc001gnu.2_Silent_p.S391S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	557						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180000515	180000515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180000515G>A	uc001gnt.2	+	15	3994	c.3611G>A	c.(3610-3612)CGT>CAT	p.R1204H	CEP350_uc009wxl.2_Missense_Mutation_p.R1203H|CEP350_uc001gnu.2_Missense_Mutation_p.R1037H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1204	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180064877	180064877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180064877G>A	uc001gnt.2	+	35	9114	c.8731G>A	c.(8731-8733)GAA>AAA	p.E2911K	CEP350_uc009wxl.2_Missense_Mutation_p.E2910K|CEP350_uc001gnv.2_Missense_Mutation_p.E1046K|CEP350_uc001gnw.1_Missense_Mutation_p.E668K|CEP350_uc001gnx.1_Missense_Mutation_p.E668K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2911						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243369	180243369	+	Silent	SNP	C	T	T	rs139155359		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243369C>T	uc001goe.1	+	6	1051	c.828C>T	c.(826-828)AAC>AAT	p.N276N	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180243511	180243511	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243511G>A	uc001goe.1	+	6	1193	c.970G>A	c.(970-972)GCT>ACT	p.A324T	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180399357	180399357	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180399357C>T	uc001gog.2	-	4	1046	c.425G>A	c.(424-426)GGT>GAT	p.G142D		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	142						cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
STX6	10228	broad.mit.edu	37	1	180953816	180953816	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180953816T>A	uc010pnq.1	-	7	925	c.688A>T	c.(688-690)AGT>TGT	p.S230C	STX6_uc001goo.2_Missense_Mutation_p.S230C|STX6_uc010pnr.1_Missense_Mutation_p.S129C	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	230	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1																		---	---	---	---
MR1	3140	broad.mit.edu	37	1	181022773	181022773	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181022773G>T	uc001goq.1	+	5	950	c.945G>T	c.(943-945)CTG>CTT	p.L315L	MR1_uc001gor.1_Silent_p.L270L|MR1_uc001gos.1_Silent_p.L223L|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	315	Helical; (Potential).			L -> P (in Ref. 4; BAD96630).	antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1																		---	---	---	---
IER5	51278	broad.mit.edu	37	1	181059004	181059004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181059004A>G	uc001got.3	+	1	1367	c.966A>G	c.(964-966)ACA>ACG	p.T322T		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	322										pancreas(1)	1																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181708397	181708397	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181708397A>G	uc001gow.2	+						CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_Intron|CACNA1E_uc009wxt.2_Intron	NM_000721	NP_000712			calcium channel, voltage-dependent, R type,						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181764126	181764126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181764126C>T	uc001gow.2	+	45	6190	c.6025C>T	c.(6025-6027)CGG>TGG	p.R2009W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1897W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1278W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2052	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182355457	182355457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182355457A>G	uc001gpa.1	-	4	621	c.409T>C	c.(409-411)TAT>CAT	p.Y137H	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.Y137H|GLUL_uc001gpc.1_Missense_Mutation_p.Y137H|GLUL_uc001gpd.1_Missense_Mutation_p.Y137H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	137					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)													---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550471	182550471	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182550471A>G	uc001gpj.1	-	4	1961	c.1794T>C	c.(1792-1794)AAT>AAC	p.N598N	RNASEL_uc009wxz.1_Silent_p.N598N|RNASEL_uc001gpk.2_Silent_p.N598N	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	598	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5														Hereditary_Prostate_Cancer				---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182856359	182856359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182856359C>T	uc001gpr.2	+	28	3766	c.3603C>T	c.(3601-3603)GGC>GGT	p.G1201G	DHX9_uc001gps.2_Silent_p.G987G|DHX9_uc001gpt.2_Silent_p.G480G|DHX9_uc009wyd.2_Silent_p.G166G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1201	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2																		---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183086546	183086546	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183086546C>T	uc001gpy.3	+	9	1913	c.1656C>T	c.(1654-1656)GAC>GAT	p.D552D		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	552	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183208692	183208692	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183208692T>C	uc001gqa.2	+	20	3377	c.3063T>C	c.(3061-3063)ATT>ATC	p.I1021I	LAMC2_uc001gpz.3_Silent_p.I1021I|LAMC2_uc010poa.1_Silent_p.I721I	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1021	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183506324	183506324	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183506324A>C	uc001gqg.2	+	11	1330	c.1208A>C	c.(1207-1209)CAT>CCT	p.H403P	SMG7_uc010pob.1_Missense_Mutation_p.H432P|SMG7_uc001gqf.2_Missense_Mutation_p.H403P|SMG7_uc001gqh.2_Missense_Mutation_p.H403P|SMG7_uc001gqi.2_Missense_Mutation_p.H361P|SMG7_uc010poc.1_Missense_Mutation_p.H361P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	403					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GLT25D2	23127	broad.mit.edu	37	1	183944246	183944246	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183944246C>A	uc001gqr.2	-	3	849	c.477G>T	c.(475-477)TGG>TGT	p.W159C	GLT25D2_uc010poj.1_Missense_Mutation_p.W159C|GLT25D2_uc001gqs.2_Missense_Mutation_p.W39C	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	159					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184663337	184663337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184663337G>A	uc010pok.1	-	20	2920	c.2659C>T	c.(2659-2661)CTT>TTT	p.L887F	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L903F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	887					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764990	184764990	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184764990T>C	uc001gra.2	-	14	2102	c.1908A>G	c.(1906-1908)AAA>AAG	p.K636K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	636					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184765096	184765096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184765096G>T	uc001gra.2	-	14	1996	c.1802C>A	c.(1801-1803)GCT>GAT	p.A601D	FAM129A_uc001grb.1_Missense_Mutation_p.A364D	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	601					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
C1orf25	81627	broad.mit.edu	37	1	185089303	185089303	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185089303A>T	uc001grf.3	-	15	2322	c.2050T>A	c.(2050-2052)TTT>ATT	p.F684I	C1orf25_uc010pon.1_Missense_Mutation_p.F528I	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	684						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0																		---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185276772	185276772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185276772G>T	uc001grl.2	-	6	1003	c.380C>A	c.(379-381)TCT>TAT	p.S127Y	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	127					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185970779	185970779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185970779C>A	uc001grq.1	+	28	4483	c.4254C>A	c.(4252-4254)CTC>CTA	p.L1418L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1418	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186055437	186055437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186055437A>G	uc001grq.1	+	58	9173	c.8944A>G	c.(8944-8946)ATC>GTC	p.I2982V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2982	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186114613	186114613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186114613G>A	uc001grq.1	+	92	14574	c.14345G>A	c.(14344-14346)CGC>CAC	p.R4782H	HMCN1_uc001grs.1_Missense_Mutation_p.R351H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4782	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186121905	186121905	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186121905A>G	uc001grq.1	+	96	15149	c.14920A>G	c.(14920-14922)ATT>GTT	p.I4974V	HMCN1_uc001grs.1_Missense_Mutation_p.I543V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4974	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147639	186147639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147639A>G	uc001grq.1	+	104	16264	c.16035A>G	c.(16033-16035)CAA>CAG	p.Q5345Q	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5345	EGF-like 6; calcium-binding (Potential).		Q -> R (in ARMD1).		response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147733	186147733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147733C>T	uc001grq.1	+	104	16358	c.16129C>T	c.(16129-16131)CCT>TCT	p.P5377S	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5377					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186151335	186151335	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186151335C>T	uc001grq.1	+	105	16559	c.16330C>T	c.(16330-16332)CAT>TAT	p.H5444Y	HMCN1_uc001grs.1_Missense_Mutation_p.H896Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5444	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186157083	186157083	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186157083A>C	uc001grq.1	+	106	16712	c.16483A>C	c.(16483-16485)AGC>CGC	p.S5495R	HMCN1_uc001grs.1_Missense_Mutation_p.S947R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5495					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186283791	186283791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186283791C>T	uc001grv.2	-	50	7303	c.7006G>A	c.(7006-7008)GTC>ATC	p.V2336I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2336					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186287715	186287715	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186287715T>C	uc001grv.2	-	48	6982	c.6685A>G	c.(6685-6687)ACC>GCC	p.T2229A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2229					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186291522	186291522	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186291522T>G	uc001grv.2	-	45	6686	c.6389A>C	c.(6388-6390)GAA>GCA	p.E2130A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2130					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186292976	186292976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186292976A>T	uc001grv.2	-	43	6436	c.6139T>A	c.(6139-6141)TCT>ACT	p.S2047T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2047					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186302287	186302287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186302287G>A	uc001grv.2	-	37	5719	c.5422C>T	c.(5422-5424)CGG>TGG	p.R1808W		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1808					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186304584	186304584	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186304584A>G	uc001grv.2	-	34	5094	c.4797T>C	c.(4795-4797)ATT>ATC	p.I1599I		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1599	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186315342	186315342	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186315342C>A	uc001grv.2	-	23	3318	c.3021G>T	c.(3019-3021)AAG>AAT	p.K1007N		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1007	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186316487	186316487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186316487G>A	uc001grv.2	-	22	3177	c.2880C>T	c.(2878-2880)AGC>AGT	p.S960S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	960	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
C1orf27	54953	broad.mit.edu	37	1	186386684	186386684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186386684A>G	uc001grw.2	+	14	1431	c.1195A>G	c.(1195-1197)AGT>GGT	p.S399G	C1orf27_uc010poq.1_Missense_Mutation_p.S376G|C1orf27_uc010por.1_Missense_Mutation_p.S367G	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	399						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186915760	186915760	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186915760T>A	uc001gsc.2	+						PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734			cytosolic phospholipase A2, group IVA						phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186919835	186919835	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186919835T>C	uc001gsc.2	+	13	1516	c.1311T>C	c.(1309-1311)AGT>AGC	p.S437S	PLA2G4A_uc010pos.1_Silent_p.S377S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	437	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190067601	190067601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190067601G>A	uc001gse.1	-	8	2080	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	FAM5C_uc010pot.1_Silent_p.N514N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	616						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190129803	190129803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190129803T>C	uc001gse.1	-	7	1411	c.1179A>G	c.(1177-1179)AGA>AGG	p.R393R	FAM5C_uc010pot.1_Silent_p.R291R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	393						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190130020	190130020	+	Missense_Mutation	SNP	T	C	C	rs112829253		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190130020T>C	uc001gse.1	-	7	1194	c.962A>G	c.(961-963)GAT>GGT	p.D321G	FAM5C_uc010pot.1_Missense_Mutation_p.D219G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	321						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038252	193038252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193038252A>G	uc001gss.2	+	2	243	c.68A>G	c.(67-69)TAT>TGT	p.Y23C	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.Y23C|TROVE2_uc001gsw.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyp.2_Missense_Mutation_p.Y23C|TROVE2_uc009wyq.2_Missense_Mutation_p.Y23C|TROVE2_uc001gsx.1_Missense_Mutation_p.Y23C	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	23	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0																		---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193094253	193094253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193094253A>G	uc001gtb.2	+	2	386	c.143A>G	c.(142-144)GAA>GGA	p.E48G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	48					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E48*(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49														Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196458960	196458960	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196458960T>A	uc001gtd.1	-						KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Intron|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905			potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196883700	196883700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196883700T>C	uc001gto.2	+	4	584	c.515T>C	c.(514-516)TTG>TCG	p.L172S	CFHR4_uc009wyy.2_Missense_Mutation_p.L418S|CFHR4_uc001gtp.2_Missense_Mutation_p.L419S	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	172	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197071893	197071893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197071893T>C	uc001gtu.2	-	18	6745	c.6488A>G	c.(6487-6489)TAC>TGC	p.Y2163C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2163					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197093357	197093357	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197093357A>G	uc001gtu.2	-	13	3530	c.3273T>C	c.(3271-3273)GAT>GAC	p.D1091D	ASPM_uc001gtv.2_Silent_p.D1091D|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1091					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197094055	197094055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197094055T>C	uc001gtu.2	-	12	3370	c.3113A>G	c.(3112-3114)GAT>GGT	p.D1038G	ASPM_uc001gtv.2_Missense_Mutation_p.D1038G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1038	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197097627	197097627	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197097627G>A	uc001gtu.2	-	10	3186	c.2929C>T	c.(2929-2931)CGC>TGC	p.R977C	ASPM_uc001gtv.2_Missense_Mutation_p.R977C|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	977	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197099091	197099091	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197099091T>C	uc001gtu.2	-	8	2840	c.2583A>G	c.(2581-2583)ATA>ATG	p.I861M	ASPM_uc001gtv.2_Missense_Mutation_p.I861M|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	861					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197111869	197111869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197111869T>C	uc001gtu.2	-	3	1770	c.1513A>G	c.(1513-1515)ACC>GCC	p.T505A	ASPM_uc001gtv.2_Missense_Mutation_p.T505A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	505					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197298145	197298145	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197298145C>T	uc001gtz.2	+						CRB1_uc010poz.1_Intron|CRB1_uc001gty.1_Intron|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Intron	NM_201253	NP_957705			crumbs homolog 1 precursor						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390140	197390140	+	Silent	SNP	C	T	T	rs115352681	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197390140C>T	uc001gtz.2	+	6	1317	c.1182C>T	c.(1180-1182)TGC>TGT	p.C394C	CRB1_uc010poz.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C282C|CRB1_uc010ppb.1_Silent_p.C394C|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.C43C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	394	Extracellular (Potential).|EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889141	197889141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889141G>A	uc001guk.1	+	2	651	c.214G>A	c.(214-216)GCC>ACC	p.A72T	LHX9_uc001gui.1_Missense_Mutation_p.A63T|LHX9_uc001guj.1_Missense_Mutation_p.A78T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	72	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197889164	197889164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197889164G>A	uc001guk.1	+	2	674	c.237G>A	c.(235-237)TCG>TCA	p.S79S	LHX9_uc001gui.1_Silent_p.S70S|LHX9_uc001guj.1_Silent_p.S85S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	79	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198288607	198288607	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198288607T>G	uc001gun.3	+	10	1191	c.864T>G	c.(862-864)GTT>GTG	p.V288V		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	288	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711080	198711080	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711080A>G	uc001gur.1	+	24	2660	c.2480A>G	c.(2479-2481)CAC>CGC	p.H827R	PTPRC_uc001gus.1_Missense_Mutation_p.H779R|PTPRC_uc001gut.1_Missense_Mutation_p.H666R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	827	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711111	198711111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711111T>C	uc001gur.1	+	24	2691	c.2511T>C	c.(2509-2511)AAT>AAC	p.N837N	PTPRC_uc001gus.1_Silent_p.N789N|PTPRC_uc001gut.1_Silent_p.N676N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	837	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200539049	200539049	+	Silent	SNP	T	A	A	rs150400242	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200539049T>A	uc010ppk.1	-	23	4090	c.3651A>T	c.(3649-3651)TCA>TCT	p.S1217S	KIF14_uc010ppj.1_Silent_p.S726S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1217	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200558367	200558367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200558367A>G	uc010ppk.1	-	18	3531	c.3092T>C	c.(3091-3093)ATG>ACG	p.M1031T	KIF14_uc010ppj.1_Missense_Mutation_p.M540T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1031	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880842	200880842	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200880842C>T	uc001gvo.2	+	9	1506	c.1476C>T	c.(1474-1476)CGC>CGT	p.R492R	C1orf106_uc010ppm.1_Silent_p.R407R	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	492										skin(2)|ovary(1)	3																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200968470	200968470	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200968470C>A	uc001gvs.1	-						KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron	NM_017596	NP_060066			kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200974805	200974805	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200974805G>T	uc001gvs.1	-	4	782	c.465C>A	c.(463-465)ATC>ATA	p.I155I	KIF21B_uc001gvr.1_Silent_p.I155I|KIF21B_uc009wzl.1_Silent_p.I155I|KIF21B_uc010ppn.1_Silent_p.I155I|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	155	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201036004	201036004	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201036004C>T	uc001gvv.2	-							NM_000069	NP_000060			calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201618328	201618328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201618328C>T	uc001gwu.2	+	1	879	c.532C>T	c.(532-534)CCC>TCC	p.P178S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	178					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843974	201843974	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201843974A>G	uc001gwz.2	+	22	2898	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	950					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201982112	201982112	+	Silent	SNP	C	T	T	rs148651345		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201982112C>T	uc001gxg.3	+	5	3828	c.636C>T	c.(634-636)TCC>TCT	p.S212S	ELF3_uc001gxi.3_Silent_p.S212S|ELF3_uc001gxh.3_Silent_p.S212S	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	212					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0																		---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097334	202097334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202097334G>A	uc001gxj.2	+	2	1159	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	366	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202287192	202287192	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202287192C>G	uc001gxu.2	+	18	1761	c.1761C>G	c.(1759-1761)TTC>TTG	p.F587L	LGR6_uc001gxv.2_Missense_Mutation_p.F535L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.F448L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	587	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10																		---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202396208	202396208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202396208T>A	uc001gya.1	+	5	886	c.742T>A	c.(742-744)TAT>AAT	p.Y248N	PPP1R12B_uc001gxy.2_Missense_Mutation_p.Y248N|PPP1R12B_uc009xad.1_Missense_Mutation_p.Y54N|PPP1R12B_uc009xae.1_Missense_Mutation_p.Y248N|PPP1R12B_uc001gxz.1_Missense_Mutation_p.Y248N	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	248					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202398034	202398034	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202398034T>C	uc001gya.1	+	6	1042	c.898T>C	c.(898-900)TTG>CTG	p.L300L	PPP1R12B_uc001gxy.2_Silent_p.L300L|PPP1R12B_uc009xad.1_Silent_p.L106L|PPP1R12B_uc009xae.1_Silent_p.L300L|PPP1R12B_uc001gxz.1_Silent_p.L300L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	300					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464568	202464568	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464568A>T	uc001gya.1	+	16	2437	c.2293A>T	c.(2293-2295)ACT>TCT	p.T765S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T765S|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	765					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464749	202464749	+	Missense_Mutation	SNP	G	A	A	rs3817221		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202464749G>A	uc001gya.1	+	17	2531	c.2387G>A	c.(2386-2388)CGA>CAA	p.R796Q	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R796Q|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R22Q|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R22Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	796					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202880340	202880340	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202880340G>A	uc001gyo.1	-						KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Intron|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646			kelch-like 12						Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
MYBPH	4608	broad.mit.edu	37	1	203139459	203139459	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203139459C>T	uc001gzh.1	-	7	1112	c.1053G>A	c.(1051-1053)TCG>TCA	p.S351S	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	351	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)														---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203186215	203186215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203186215T>G	uc001gzn.2	-	11	1299	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.K163N|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.K392N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	401					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203468795	203468795	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203468795A>T	uc001gzu.1	+	5	664	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	183	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203698783	203698783	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203698783C>T	uc001gzw.2	+						ATP2B4_uc001gzv.2_Intron|ATP2B4_uc009xaq.2_Intron|ATP2B4_uc001gzx.2_Intron|ATP2B4_uc009xar.2_Intron|SNORA77_uc001gzy.1_RNA	NM_001684	NP_001675			plasma membrane calcium ATPase 4 isoform 4b						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203820223	203820223	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203820223T>C	uc001hac.2	+	19	2761	c.2145T>C	c.(2143-2145)ACT>ACC	p.T715T	ZC3H11A_uc001had.2_Silent_p.T715T|ZC3H11A_uc001hae.2_Silent_p.T715T|ZC3H11A_uc001haf.2_Silent_p.T715T|ZC3H11A_uc010pqm.1_Silent_p.T661T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	715							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204083710	204083710	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204083710C>A	uc001ham.2	+	4	990	c.395C>A	c.(394-396)TCT>TAT	p.S132Y	SOX13_uc001hal.2_Missense_Mutation_p.S132Y|SOX13_uc010pqp.1_Missense_Mutation_p.S132Y|SOX13_uc010pqq.1_5'Flank	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	132					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204115797G>A	uc001hao.3	-	3	941	c.614C>T	c.(613-615)ACG>ATG	p.T205M	ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204216588	204216588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204216588C>T	uc001hau.2	-	13	2142	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	609										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204217956	204217956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204217956G>A	uc001hau.2	-	12	2134	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	606								p.A606V(1)		ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204234146	204234146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204234146C>T	uc001hau.2	-	6	622	c.305G>A	c.(304-306)GGC>GAC	p.G102D		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	102	PH.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379416	204379416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204379416G>A	uc001hav.3	-	1	1529	c.1124C>T	c.(1123-1125)GCT>GTT	p.A375V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	375					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)															---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204401362	204401362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204401362C>T	uc001haw.2	-	28	4600	c.4121G>A	c.(4120-4122)CGC>CAC	p.R1374H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1346H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1374	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)													OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587072	204587072	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204587072A>G	uc001hbe.1	-	3	2437	c.2049T>C	c.(2047-2049)TCT>TCC	p.S683S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.S683S|LRRN2_uc009xbf.1_Silent_p.S683S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	683	Cytoplasmic (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588100	204588100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588100T>C	uc001hbe.1	-	3	1409	c.1021A>G	c.(1021-1023)ATG>GTG	p.M341V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.M341V|LRRN2_uc009xbf.1_Missense_Mutation_p.M341V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	341	Extracellular (Potential).|LRR 12.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588840	204588840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588840T>C	uc001hbe.1	-	3	669	c.281A>G	c.(280-282)AAT>AGT	p.N94S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N94S|LRRN2_uc009xbf.1_Missense_Mutation_p.N94S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	94	LRR 2.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588931	204588931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588931G>A	uc001hbe.1	-	3	578	c.190C>T	c.(190-192)CCC>TCC	p.P64S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P64S|LRRN2_uc009xbf.1_Missense_Mutation_p.P64S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	64	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204923419G>A	uc001hbj.2	+	6	647	c.319G>A	c.(319-321)GGG>AGG	p.G107R	NFASC_uc001hbh.2_Missense_Mutation_p.G107R|NFASC_uc010pqz.1_Missense_Mutation_p.G101R|NFASC_uc010pra.1_Missense_Mutation_p.G101R|NFASC_uc001hbi.2_Missense_Mutation_p.G101R|NFASC_uc009xbg.1_Missense_Mutation_p.G174R|NFASC_uc010prb.1_Missense_Mutation_p.G101R|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204926830	204926830	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204926830C>T	uc001hbj.2	+	8	910	c.582C>T	c.(580-582)AAC>AAT	p.N194N	NFASC_uc001hbh.2_Silent_p.N194N|NFASC_uc010pqz.1_Silent_p.N188N|NFASC_uc010pra.1_Silent_p.N188N|NFASC_uc001hbi.2_Silent_p.N188N|NFASC_uc009xbg.1_Silent_p.N261N|NFASC_uc010prb.1_Silent_p.N188N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Silent_p.N15N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	194	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033516	205033516	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205033516T>A	uc001hbr.2	+	11	1576	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	CNTN2_uc001hbq.1_Missense_Mutation_p.I327N|CNTN2_uc001hbs.2_Missense_Mutation_p.I224N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205241020	205241020	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205241020G>T	uc001hbz.1	+	6	2342	c.1898G>T	c.(1897-1899)GGC>GTC	p.G633V	TMCC2_uc010prf.1_Missense_Mutation_p.G555V|TMCC2_uc001hca.2_Missense_Mutation_p.G408V|TMCC2_uc001hcb.1_Missense_Mutation_p.G393V|TMCC2_uc001hcc.1_Missense_Mutation_p.G254V|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	633	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388445	205388445	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388445G>T	uc001hcj.1	-	3	220	c.118C>A	c.(118-120)CAG>AAG	p.Q40K	LEMD1_uc001hci.1_Missense_Mutation_p.Q40K|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	40	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
LEMD1	93273	broad.mit.edu	37	1	205388453	205388453	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205388453T>C	uc001hcj.1	-	3	212	c.110A>G	c.(109-111)AAG>AGG	p.K37R	LEMD1_uc001hci.1_Missense_Mutation_p.K37R|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)															---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205496974	205496974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205496974T>C	uc001hcr.2	+	9	1091	c.872T>C	c.(871-873)ATC>ACC	p.I291T	CDK18_uc001hcp.2_Missense_Mutation_p.I261T|CDK18_uc001hcq.2_Missense_Mutation_p.I261T|CDK18_uc010prj.1_Missense_Mutation_p.I172T|CDK18_uc001hcs.2_Missense_Mutation_p.I172T|CDK18_uc009xbm.1_Missense_Mutation_p.I186T|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	259	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2																		---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205561362	205561362	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205561362G>A	uc001hcv.3	+	7	1330	c.1244G>A	c.(1243-1245)AGC>AAC	p.S415N	MFSD4_uc010prk.1_Missense_Mutation_p.S328N|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S360N|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	415	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)													OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205568338	205568338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205568338T>C	uc001hcv.3	+	9	1534	c.1448T>C	c.(1447-1449)TTG>TCG	p.L483S	MFSD4_uc010prk.1_Missense_Mutation_p.L396S|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.L428S|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	483	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)															---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205633776	205633776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205633776C>A	uc001hda.1	-	2	348	c.9G>T	c.(7-9)CAG>CAT	p.Q3H	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	3					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)					T	ETV1|ETV5|ELK4|ERG	prostate 								---	---	---	---
NUCKS1	64710	broad.mit.edu	37	1	205689743	205689743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205689743G>A	uc001hdb.2	-	5	528	c.268C>T	c.(268-270)CGC>TGC	p.R90C		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	90						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)															---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224429	206224429	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206224429C>T	uc001hds.2	+	1						NM_000707	NP_000698			arginine vasopressin receptor 1B						activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206331109	206331109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206331109A>G	uc001hdu.2	+	9	1233	c.1115A>G	c.(1114-1116)GAT>GGT	p.D372G	CTSE_uc001hdv.2_Missense_Mutation_p.M325V|CTSE_uc010prs.1_Missense_Mutation_p.M250V	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)															---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206611397	206611397	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206611397G>A	uc001hdy.2	+	13	1789	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	SRGAP2_uc010prt.1_Missense_Mutation_p.E409K|SRGAP2_uc001hdx.2_Missense_Mutation_p.E486K|SRGAP2_uc010pru.1_Missense_Mutation_p.E409K|SRGAP2_uc010prv.1_Missense_Mutation_p.E410K	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	573	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)																	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206664989	206664989	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206664989T>A	uc001hdz.1	+	18	2110	c.1742T>A	c.(1741-1743)TTC>TAC	p.F581Y	IKBKE_uc009xbv.1_Missense_Mutation_p.F581Y|IKBKE_uc001hea.1_Missense_Mutation_p.F496Y	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	581					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)																	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207196834	207196834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207196834G>A	uc001hfd.2	-						C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427			specifically androgen-regulated protein isoform							cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)																	---	---	---	---
YOD1	55432	broad.mit.edu	37	1	207222646	207222646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207222646T>C	uc001hfe.1	-	2	813	c.766A>G	c.(766-768)ACC>GCC	p.T256A	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.T212A	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	256	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)																	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207753708	207753708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207753708C>T	uc001hfy.2	+	22	3850	c.3710C>T	c.(3709-3711)TCT>TTT	p.S1237F	CR1_uc009xcl.1_Missense_Mutation_p.S787F|CR1_uc001hfx.2_Missense_Mutation_p.S1687F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1237	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---
CD46	4179	broad.mit.edu	37	1	207963659	207963659	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207963659A>C	uc001hgc.2	+	13					CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_3'UTR|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_3'UTR|CD46_uc001hgj.2_Intron|CD46_uc001hgk.2_3'UTR|CD46_uc001hgl.2_3'UTR|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_3'UTR|CD46_uc001hgo.2_Intron|CD46_uc001hgp.2_Intron	NM_002389	NP_002380			CD46 antigen, complement regulatory protein						complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4																		---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208257862	208257862	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208257862T>C	uc001hgz.2	-	10	2919	c.2161A>G	c.(2161-2163)ACC>GCC	p.T721A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	721	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209799327	209799327	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209799327T>A	uc001hhg.2	-	13	2032	c.1642A>T	c.(1642-1644)AAG>TAG	p.K548*	LAMB3_uc009xco.2_Nonsense_Mutation_p.K548*|LAMB3_uc001hhh.2_Nonsense_Mutation_p.K548*|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	548	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)														---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210637971	210637971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210637971A>G	uc009xcx.2	+	8	1145	c.979A>G	c.(979-981)ACC>GCC	p.T327A	HHAT_uc010psq.1_Missense_Mutation_p.T190A|HHAT_uc001hhz.3_Missense_Mutation_p.T327A|HHAT_uc010psr.1_Missense_Mutation_p.T328A|HHAT_uc010pss.1_Missense_Mutation_p.T282A|HHAT_uc009xcy.2_Missense_Mutation_p.T262A|HHAT_uc010pst.1_Missense_Mutation_p.T264A|HHAT_uc010psu.1_Missense_Mutation_p.T262A|HHAT_uc001hia.3_Missense_Mutation_p.T17A	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	327					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)														---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211451523	211451523	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:211451523G>T	uc001hig.2	+	5	576	c.407G>T	c.(406-408)AGG>ATG	p.R136M	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R194M|RCOR3_uc010psw.1_Missense_Mutation_p.R194M|RCOR3_uc001hif.2_Missense_Mutation_p.R194M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)														---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212560349	212560349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212560349A>G	uc001hjc.3	-	3	395	c.227T>C	c.(226-228)CTG>CCG	p.L76P	TMEM206_uc010pte.1_Missense_Mutation_p.L137P	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	76	Helical; (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)														---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799538	212799538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212799538G>A	uc001hjk.2	+	1	1723	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	440										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213302945	213302945	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213302945C>A	uc010ptr.1	+	6	707	c.548C>A	c.(547-549)GCT>GAT	p.A183D	RPS6KC1_uc001hkd.2_Missense_Mutation_p.A171D|RPS6KC1_uc010pts.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptt.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptu.1_Missense_Mutation_p.A2D|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.A2D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	183					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214557227C>T	uc001hkk.1	-	13	2242	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	PTPN14_uc010pty.1_Silent_p.T558T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214813868	214813868	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214813868T>C	uc001hkm.2	+	12	2361	c.2187T>C	c.(2185-2187)ACT>ACC	p.T729T		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	729	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214816273	214816273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214816273T>C	uc001hkm.2	+	12	4766	c.4592T>C	c.(4591-4593)CTG>CCG	p.L1531P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1627					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214826425	214826425	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214826425T>C	uc001hkm.2	+							NM_016343	NP_057427			centromere protein F						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
KCNK2	3776	broad.mit.edu	37	1	215342543	215342543	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215342543A>T	uc001hkq.2	+	4	646	c.477A>T	c.(475-477)GGA>GGT	p.G159G	KCNK2_uc001hko.2_Silent_p.G155G|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.G144G	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	159							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)													---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215751371	215751371	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215751371T>C	uc001hks.2	+	6	638	c.344T>C	c.(343-345)TTG>TCG	p.L115S	KCTD3_uc001hkt.2_Missense_Mutation_p.L115S|KCTD3_uc010pub.1_Missense_Mutation_p.L13S|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	115						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215901647	215901647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215901647T>C	uc001hku.1	-	61	12178	c.11791A>G	c.(11791-11793)ACC>GCC	p.T3931A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3931	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216073503	216073503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216073503T>C	uc001hku.1	-	40	7895	c.7508A>G	c.(7507-7509)TAC>TGC	p.Y2503C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2503	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216262383	216262383	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216262383G>A	uc001hku.1	-	23	5244	c.4857C>T	c.(4855-4857)GGC>GGT	p.G1619G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1619	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216369957	216369957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216369957A>G	uc001hku.1	-	19	4576	c.4189T>C	c.(4189-4191)TAT>CAT	p.Y1397H	USH2A_uc001hkv.2_Missense_Mutation_p.Y1397H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1397	Extracellular (Potential).|Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216371840	216371840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216371840T>C	uc001hku.1	-	18	4285	c.3898A>G	c.(3898-3900)AGT>GGT	p.S1300G	USH2A_uc001hkv.2_Missense_Mutation_p.S1300G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1300	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217793422	217793422	+	Missense_Mutation	SNP	C	T	T	rs150988724	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217793422C>T	uc001hlf.1	-	2	572	c.476G>A	c.(475-477)CGC>CAC	p.R159H	GPATCH2_uc001hlg.3_Missense_Mutation_p.R159H	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)														---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217856611	217856611	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217856611A>T	uc001hlh.1	+	5	329	c.303A>T	c.(301-303)CGA>CGT	p.R101R	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.R101R	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	101	IQ 3.					cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)														---	---	---	---
SLC30A10	55532	broad.mit.edu	37	1	220100394	220100394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220100394T>C	uc001hlw.2	-	2	905	c.694A>G	c.(694-696)AAG>GAG	p.K232E	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_Missense_Mutation_p.K7E	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	232	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)														---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220193341	220193341	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220193341T>C	uc001hly.1	-	10	1608	c.1338A>G	c.(1336-1338)CTA>CTG	p.L446L	EPRS_uc010puf.1_Silent_p.L197L|EPRS_uc001hlz.1_Silent_p.L446L|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	446	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220203728	220203728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220203728C>T	uc001hly.1	-	6	893	c.623G>A	c.(622-624)GGT>GAT	p.G208D	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.G208D|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	208	"Glutamyl-tRNA synthetase.|""HIGH"" region."				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220275602	220275602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220275602T>C	uc001hmc.2	+	4	786	c.682T>C	c.(682-684)TAC>CAC	p.Y228H		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	228					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220315249	220315249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220315249A>G	uc001hmc.2	+	20	2623	c.2519A>G	c.(2518-2520)CAC>CGC	p.H840R	IARS2_uc001hmd.2_Missense_Mutation_p.H176R	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	840					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220324707	220324707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220324707T>C	uc010puk.1	-	35	4232	c.4068A>G	c.(4066-4068)ACA>ACG	p.T1356T	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.T936T|RAB3GAP2_uc001hmh.2_3'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1356					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220325021	220325021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220325021T>C	uc010puk.1	-	34	4117	c.3953A>G	c.(3952-3954)CAC>CGC	p.H1318R	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.H898R|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.H262R	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1318					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053336	221053336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221053336T>C	uc001hmv.3	+	1	594	c.137T>C	c.(136-138)ATC>ACC	p.I46T		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	46					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221879722	221879722	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221879722C>T	uc001hmy.1	-	3	1080	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	300					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912385	221912385	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221912385T>C	uc001hmy.1	-	2	884	c.702A>G	c.(700-702)ATA>ATG	p.I234M	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	234	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717326	222717326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222717326T>C	uc001hnh.1	-	2	585	c.527A>G	c.(526-528)GAC>GGC	p.D176G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	176					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)														---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)														---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223971921	223971921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223971921C>A	uc010pvb.1	-	17	3551	c.3259G>T	c.(3259-3261)GGA>TGA	p.G1087*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.G958*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.G320*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.G726*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1081	Mediates interaction with APC2.|SH3.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---
FBXO28	23219	broad.mit.edu	37	1	224340859	224340859	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224340859T>C	uc001hoh.2	+	4	573	c.532T>C	c.(532-534)TAT>CAT	p.Y178H	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	178										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)														---	---	---	---
CNIH4	29097	broad.mit.edu	37	1	224559058	224559058	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224559058T>C	uc001hom.1	+	4	357	c.325T>C	c.(325-327)TCA>CCA	p.S109P	CNIH4_uc001hon.1_Intron	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	cornichon homolog 4	109					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.00341)														---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224599216	224599216	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224599216T>C	uc001hop.3	-	7	996	c.630A>G	c.(628-630)GAA>GAG	p.E210E	WDR26_uc001hoq.3_Silent_p.E194E|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	357	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)														---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224804931	224804931	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224804931G>A	uc001hos.1	+	1	753	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	19	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)														---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226030158	226030158	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226030158G>T	uc001hpk.2	+	7	1103	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	EPHX1_uc001hpl.2_Missense_Mutation_p.E341D	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	341					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)																	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550840	226550840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226550840T>C	uc001hqd.3	-	21	2979	c.2808A>G	c.(2806-2808)TCA>TCG	p.S936S		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	936	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
PARP1	142	broad.mit.edu	37	1	226578278	226578278	+	Silent	SNP	C	T	T	rs142376976		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226578278C>T	uc001hqd.3	-	4	621	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	150	PARP-type 2.|				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
CABC1	56997	broad.mit.edu	37	1	227152890	227152890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227152890G>A	uc001hqm.1	+	8	3786	c.367G>A	c.(367-369)GGA>AGA	p.G123R	CABC1_uc010pvp.1_Missense_Mutation_p.G86R|CABC1_uc001hqn.1_Missense_Mutation_p.G123R|CABC1_uc009xeq.1_Missense_Mutation_p.G71R|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	123					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)																---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227227828	227227828	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227227828T>C	uc001hqr.2	-						CDC42BPA_uc001hqq.2_Intron|CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Intron|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Intron|CDC42BPA_uc001hqu.1_Intron	NM_003607	NP_003598			CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---
ZNF678	339500	broad.mit.edu	37	1	227843127	227843127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227843127T>C	uc001hqw.1	+	4	1521	c.1176T>C	c.(1174-1176)CTT>CTC	p.L392L	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)																---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227935786	227935786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227935786A>G	uc001hrf.2	+	2	898	c.484A>G	c.(484-486)ACC>GCC	p.T162A	SNAP47_uc001hqz.2_Missense_Mutation_p.T117A|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.T162A|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.T117A	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	162	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1																		---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228334650	228334650	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228334650C>T	uc001hsh.2	+						GUK1_uc001hsi.2_Intron|GUK1_uc001hsj.2_Intron|GUK1_uc010pvv.1_Intron|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849			guanylate kinase 1 isoform b						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---
C1orf69	200205	broad.mit.edu	37	1	228362488	228362488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228362488G>A	uc001hsl.3	+	2	526	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	146					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228431128	228431128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228431128C>T	uc009xez.1	+	10	3218	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	OBSCN_uc001hsn.2_Silent_p.G1058G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1058	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468349	228468349	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228468349C>T	uc009xez.1	+	30	8093	c.8049C>T	c.(8047-8049)GGC>GGT	p.G2683G	OBSCN_uc001hsn.2_Silent_p.G2683G|OBSCN_uc001hsp.1_Silent_p.G382G|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2683	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476538	228476538	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476538T>C	uc009xez.1	+	38	10332	c.10288T>C	c.(10288-10290)TAC>CAC	p.Y3430H	OBSCN_uc001hsn.2_Missense_Mutation_p.Y3430H|OBSCN_uc001hsq.1_Missense_Mutation_p.Y686H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3430	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228476571	228476571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228476571G>A	uc009xez.1	+	38	10365	c.10321G>A	c.(10321-10323)GCC>ACC	p.A3441T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3441T|OBSCN_uc001hsq.1_Missense_Mutation_p.A697T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3441	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228523973	228523973	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228523973T>C	uc009xez.1	+	64	16581	c.16537_splice	c.e64+2	p.E5513_splice	OBSCN_uc001hsn.2_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice	NM_001098623	NP_001092093			obscurin, cytoskeletal calmodulin and						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228524766	228524766	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228524766G>T	uc009xez.1	+	65	16643	c.16599G>T	c.(16597-16599)GAG>GAT	p.E5533D	OBSCN_uc001hsn.2_Missense_Mutation_p.E5533D|OBSCN_uc001hsr.1_Missense_Mutation_p.E161D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5533					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228879123	228879123	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228879123A>C	uc001htf.2	+	3	1034	c.413A>C	c.(412-414)AAC>ACC	p.N138T		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	138					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229666069	229666069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229666069G>A	uc001htp.3	-	8	1565	c.1522C>T	c.(1522-1524)CCC>TCC	p.P508S		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	508	Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229683280	229683280	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229683280G>A	uc001htp.3	-	3	930	c.887C>T	c.(886-888)GCC>GTC	p.A296V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	296	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230381798	230381798	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230381798T>C	uc010pwa.1	+						GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472			polypeptide N-acetylgalactosaminyltransferase 2						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)																---	---	---	---
PGBD5	79605	broad.mit.edu	37	1	230492723	230492723	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230492723T>C	uc010pwb.1	-	2	469	c.469A>G	c.(469-471)ACG>GCG	p.T157A	PGBD5_uc001htv.2_Missense_Mutation_p.T256A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	157						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)														---	---	---	---
COG2	22796	broad.mit.edu	37	1	230810880	230810880	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230810880C>T	uc001htw.2	+						COG2_uc001htx.2_Intron|COG2_uc010pwc.1_Intron	NM_007357	NP_031383			component of oligomeric golgi complex 2 isoform						Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
COG2	22796	broad.mit.edu	37	1	230814715	230814715	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230814715G>T	uc001htw.2	+	10	1234	c.1083G>T	c.(1081-1083)CAG>CAT	p.Q361H	COG2_uc001htx.2_Missense_Mutation_p.Q361H|COG2_uc010pwc.1_Missense_Mutation_p.Q234H	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	361					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979489	230979489	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979489C>A	uc001hub.2	-	3	582	c.538G>T	c.(538-540)GGC>TGC	p.G180C	C1orf198_uc009xfh.1_Missense_Mutation_p.G50C|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G142C	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	180											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979510	230979510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230979510A>G	uc001hub.2	-	3	561	c.517T>C	c.(517-519)TCC>CCC	p.S173P	C1orf198_uc009xfh.1_Missense_Mutation_p.S43P|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.S135P	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	173											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231337179	231337179	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231337179T>A	uc009xfn.1	+	5	1492	c.1450T>A	c.(1450-1452)TCT>ACT	p.S484T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	484	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)																---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231364893	231364893	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231364893T>C	uc001hun.1	-						C1orf131_uc001hul.2_Intron|C1orf131_uc001hum.2_Intron|C1orf131_uc010pwd.1_Intron	NM_152379	NP_689592			hypothetical protein LOC128061											central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)																---	---	---	---
EGLN1	54583	broad.mit.edu	37	1	231556926	231556926	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231556926C>T	uc001huv.2	-	1	3865	c.709G>A	c.(709-711)GAC>AAC	p.D237N	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	237					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)													---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231906664	231906664	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231906664G>A	uc001huz.2	+	6	1535	c.1482G>A	c.(1480-1482)GAG>GAA	p.E494E	TSNAX-DISC1_uc010pwg.1_Silent_p.E483E|TSNAX-DISC1_uc010pwh.1_Silent_p.E449E|TSNAX-DISC1_uc010pwi.1_Silent_p.E449E|TSNAX-DISC1_uc010pwj.1_Silent_p.E483E|TSNAX-DISC1_uc010pwk.1_Silent_p.E483E|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.E494E|DISC1_uc010pwr.1_Silent_p.E494E|DISC1_uc010pws.1_Silent_p.E494E|DISC1_uc010pwt.1_Silent_p.E494E|DISC1_uc010pwu.1_Silent_p.E144E|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.E494E|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.E494E|DISC1_uc010pxb.1_Silent_p.E494E|DISC1_uc010pxc.1_Silent_p.E494E|DISC1_uc010pxd.1_Silent_p.E139E|DISC1_uc010pxe.1_Silent_p.E494E|DISC1_uc009xfr.2_Silent_p.E449E|DISC1_uc010pxf.1_Silent_p.E494E|DISC1_uc010pxg.1_Silent_p.E494E|DISC1_uc010pxh.1_Silent_p.E526E|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.E139E|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.E139E|DISC1_uc001hva.2_Silent_p.E494E	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	494	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232539873	232539873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232539873A>G	uc001hvg.2	-	18	4972	c.4814T>C	c.(4813-4815)CTA>CCA	p.L1605P	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1605					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232601173	232601173	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232601173A>G	uc001hvg.2	-							NM_020808	NP_065859			signal-induced proliferation-associated 1 like						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
KIAA1383	54627	broad.mit.edu	37	1	232942838	232942838	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232942838C>A	uc001hvh.2	+	1	2201	c.2069C>A	c.(2068-2070)TCT>TAT	p.S690Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	548										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)																---	---	---	---
C1orf57	84284	broad.mit.edu	37	1	233091413	233091413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233091413G>T	uc001hvj.1	+	2	232	c.145G>T	c.(145-147)GGA>TGA	p.G49*	C1orf57_uc001hvi.2_Nonsense_Mutation_p.G49*|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	49							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)																---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345219	235345219	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235345219A>C	uc001hwq.2	-	20	3513	c.3015T>G	c.(3013-3015)AAT>AAG	p.N1005K	ARID4B_uc001hwr.2_Missense_Mutation_p.N919K|ARID4B_uc001hws.3_Missense_Mutation_p.N919K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.N686K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377281	235377281	+	Silent	SNP	C	T	T	rs113894806		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377332	235377332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235377332C>T	uc001hwq.2	-	17	2091	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.T212T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	531	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235920623G>A	uc001hxj.2	-	24	7192	c.7017C>T	c.(7015-7017)CTC>CTT	p.L2339L		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
LYST	1130	broad.mit.edu	37	1	235922861	235922861	+	Missense_Mutation	SNP	C	T	T	rs146091043	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235922861C>T	uc001hxj.2	-	23	6467	c.6292G>A	c.(6292-6294)GCC>ACC	p.A2098T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2098					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189447	236189447	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189447G>A	uc001hxo.2	-						NID1_uc009xgd.2_Intron	NM_002508	NP_002499			nidogen 1 precursor						cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236738141	236738141	+	Silent	SNP	G	T	T	rs138699782	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236738141G>T	uc001hyd.1	-	23	3272	c.3147C>A	c.(3145-3147)CCC>CCA	p.P1049P	HEATR1_uc009xgh.1_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1049					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236920856	236920856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236920856T>C	uc001hyf.2	+	18	2429	c.2225T>C	c.(2224-2226)ATC>ACC	p.I742T	ACTN2_uc001hyg.2_Missense_Mutation_p.I534T|ACTN2_uc009xgi.1_Missense_Mutation_p.I742T|ACTN2_uc010pxu.1_Missense_Mutation_p.I431T|ACTN2_uc001hyh.2_Missense_Mutation_p.I430T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	742					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
MTR	4548	broad.mit.edu	37	1	237001790	237001790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237001790T>C	uc001hyi.3	+	15	1829	c.1406T>C	c.(1405-1407)GTC>GCC	p.V469A	MTR_uc010pxw.1_Missense_Mutation_p.V62A|MTR_uc010pxx.1_Missense_Mutation_p.V469A|MTR_uc010pxy.1_Missense_Mutation_p.V469A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	469	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237049633	237049633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237049633T>C	uc001hyi.3	+	27	3240	c.2817T>C	c.(2815-2817)GGT>GGC	p.G939G	MTR_uc010pxw.1_Silent_p.G532G|MTR_uc010pxx.1_Silent_p.G888G|MTR_uc010pxy.1_Silent_p.G793G	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	939	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237057735	237057735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237057735G>A	uc001hyi.3	+	30	3706	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N	MTR_uc010pxw.1_Missense_Mutation_p.D688N|MTR_uc010pxx.1_Missense_Mutation_p.D1044N|MTR_uc010pxy.1_Missense_Mutation_p.D949N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1095	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237608788	237608788	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237608788C>T	uc001hyl.1	+	14	1378	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237660039	237660039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237660039T>C	uc001hyl.1	+	20	2310	c.2190T>C	c.(2188-2190)CTT>CTC	p.L730L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	730	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237923159	237923159	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237923159A>G	uc001hyl.1	+						RYR2_uc010pya.1_Intron	NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238048462	238048462	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238048462T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238051650	238051650	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238051650T>C	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072456	240072456	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240072456C>T	uc001hyp.2	+	5	2484	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	569	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)													---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256747	240256747	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240256747G>A	uc010pyd.1	+	1	1563	c.1338G>A	c.(1336-1338)CGG>CGA	p.R446R	FMN2_uc010pye.1_Silent_p.R446R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	446					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497204	240497204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240497204T>C	uc010pyd.1	+	12	4827	c.4602T>C	c.(4600-4602)CTT>CTC	p.L1534L	FMN2_uc010pye.1_Silent_p.L1538L|FMN2_uc010pyf.1_Silent_p.L180L|FMN2_uc010pyg.1_Silent_p.L130L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1534	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656448	240656448	+	Missense_Mutation	SNP	C	T	T	rs146387570		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656448C>T	uc001hys.2	-	2	608	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	110	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798852	241798852	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241798852T>A	uc001hzd.2	-	1	381	c.217A>T	c.(217-219)ACT>TCT	p.T73S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	73					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)															---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242020693	242020693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242020693C>T	uc001hzh.2	+	7	992	c.452C>T	c.(451-453)GCT>GTT	p.A151V	EXO1_uc001hzi.2_Missense_Mutation_p.A151V|EXO1_uc001hzj.2_Missense_Mutation_p.A151V|EXO1_uc009xgq.2_Missense_Mutation_p.A151V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	151	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242052913	242052913	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052913C>T	uc001hzh.2	+	16					EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_3'UTR|EXO1_uc009xgq.2_3'UTR	NM_130398	NP_569082			exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243727145	243727145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243727145C>T	uc001iab.1	-	9	906	c.825G>A	c.(823-825)GAG>GAA	p.E275E	AKT3_uc001hzz.1_Silent_p.E275E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	275	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217659C>T	uc001iae.2	+	1	1078	c.556C>T	c.(556-558)CGA>TGA	p.R186*	ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ZNF238	10472	broad.mit.edu	37	1	244217906	244217906	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244217906A>T	uc001iae.2	+	1	1325	c.803A>T	c.(802-804)AAC>ATC	p.N268I	ZNF238_uc001iad.3_Missense_Mutation_p.N277I|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	268					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---
ADSS	159	broad.mit.edu	37	1	244574657	244574657	+	Missense_Mutation	SNP	G	A	A	rs150012791		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244574657G>A	uc001iaj.2	-	12	1544	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
ADSS	159	broad.mit.edu	37	1	244595888	244595888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244595888C>T	uc001iaj.2	-	4	659	c.365G>A	c.(364-366)GGC>GAC	p.G122D	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)													---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244756860	244756860	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244756860G>A	uc001iam.2	+	17	2342	c.2283G>A	c.(2281-2283)AAG>AAA	p.K761K	C1orf101_uc001iak.1_Silent_p.K315K|C1orf101_uc001ial.2_Silent_p.K761K|C1orf101_uc010pym.1_Silent_p.K610K|C1orf101_uc010pyn.1_Silent_p.K694K	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	761	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245017773	245017773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245017773A>G	uc001iaz.1	-	14	2675	c.2457T>C	c.(2455-2457)CAT>CAC	p.H819H	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.H543H|HNRNPU_uc001iba.1_Silent_p.H800H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	819	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245019225	245019225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245019225A>G	uc001iaz.1	-	11	2366	c.2148T>C	c.(2146-2148)GGT>GGC	p.G716G	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G440G|HNRNPU_uc001iba.1_Silent_p.G697G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	716	RNA-binding RGG-box.|Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	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)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245765975	245765975	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245765975T>C	uc001ibf.1	+	6	1887	c.1447T>C	c.(1447-1449)TTG>CTG	p.L483L	KIF26B_uc010pyq.1_Silent_p.L483L|KIF26B_uc001ibg.1_Silent_p.L101L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	483	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245770996	245770996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245770996T>C	uc001ibf.1	+	7	2041	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	KIF26B_uc010pyq.1_Missense_Mutation_p.V534A|KIF26B_uc001ibg.1_Missense_Mutation_p.V152A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	534	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849553	245849553	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245849553A>G	uc001ibf.1	+	12	3708	c.3268A>G	c.(3268-3270)AAA>GAA	p.K1090E	KIF26B_uc001ibg.1_Missense_Mutation_p.K708E|KIF26B_uc001ibh.1_Missense_Mutation_p.K332E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1090					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850411	245850411	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245850411G>A	uc001ibf.1	+	12	4566	c.4126G>A	c.(4126-4128)GCC>ACC	p.A1376T	KIF26B_uc001ibg.1_Missense_Mutation_p.A994T|KIF26B_uc001ibh.1_Missense_Mutation_p.A618T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1376					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246027162	246027162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246027162C>T	uc001ibl.2	-	9	935	c.840G>A	c.(838-840)GAG>GAA	p.E280E	SMYD3_uc001ibk.2_Silent_p.E221E|SMYD3_uc001ibi.2_Silent_p.E91E|SMYD3_uc001ibj.2_Silent_p.E91E	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	280						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246078843	246078843	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246078843T>C	uc001ibl.2	-	8	897	c.802A>G	c.(802-804)ACC>GCC	p.T268A	SMYD3_uc001ibk.2_Missense_Mutation_p.T209A|SMYD3_uc001ibi.2_Missense_Mutation_p.T79A|SMYD3_uc001ibj.2_Missense_Mutation_p.T79A	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	268						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247014121	247014121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247014121G>A	uc001ibu.1	-	32	5194	c.5187C>T	c.(5185-5187)AGC>AGT	p.S1729S	AHCTF1_uc001ibv.1_Silent_p.S1738S|AHCTF1_uc009xgs.1_Silent_p.S590S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1729	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247071023	247071023	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247071023T>C	uc001ibu.1	-	4	601	c.594A>G	c.(592-594)CCA>CCG	p.P198P	AHCTF1_uc001ibv.1_Silent_p.P207P	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	198	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151044	247151044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151044A>G	uc009xgu.2	-	4	918	c.773T>C	c.(772-774)GTT>GCT	p.V258A	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	258	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151183	247151183	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247151183A>G	uc009xgu.2	-	4	779	c.634T>C	c.(634-636)TAC>CAC	p.Y212H	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	212	C2H2-type 3; atypical.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
ZNF669	79862	broad.mit.edu	37	1	247264102	247264102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247264102C>T	uc001ice.2	-	4	1142	c.969G>A	c.(967-969)ACG>ACA	p.T323T	ZNF669_uc001icf.2_Silent_p.T237T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	323	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875672	247875672	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875672G>A	uc001idj.1	-	1	386	c.386C>T	c.(385-387)CCT>CTT	p.P129L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978673	247978673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978673C>T	uc001idm.1	-	1	359	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004583	248004583	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248004583C>T	uc001idn.1	-	1	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112949	248112949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112949C>A	uc001idt.1	+	1	790	c.790C>A	c.(790-792)CTG>ATG	p.L264M	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224182	248224182	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248224182C>A	uc001idx.1	+	1	199	c.199C>A	c.(199-201)CTC>ATC	p.L67I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551708	248551708	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248551708A>G	uc001iei.1	+	1	799	c.799A>G	c.(799-801)ACC>GCC	p.T267A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616313	248616313	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248616313C>A	uc001iek.1	+	1	215	c.215C>A	c.(214-216)ACC>AAC	p.T72N		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685734	248685734	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685734G>A	uc001ien.1	+	1	787	c.787G>A	c.(787-789)GCC>ACC	p.A263T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844710	248844710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248844710A>G	uc001ieu.1	-	1	896	c.896T>C	c.(895-897)ATG>ACG	p.M299T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249149772	249149772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249149772C>A	uc001ifc.1	-	8	1111	c.944G>T	c.(943-945)GGC>GTC	p.G315V	ZNF692_uc001iez.1_Missense_Mutation_p.G37V|ZNF692_uc001ifa.1_Missense_Mutation_p.G37V|ZNF692_uc001ifb.1_Missense_Mutation_p.G111V|ZNF692_uc001ifd.1_Missense_Mutation_p.G314V|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.G270V|ZNF692_uc010pzr.1_Missense_Mutation_p.G320V	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1079240	1079240	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1079240T>A	uc002qwq.2	+	2	237	c.109T>A	c.(109-111)TCC>ACC	p.S37T	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.S37T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)														---	---	---	---
TPO	7173	broad.mit.edu	37	2	1437321	1437321	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1437321A>G	uc002qww.2	+	4	382	c.291A>G	c.(289-291)TCA>TCG	p.S97S	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.S97S|TPO_uc002qwu.2_Silent_p.S97S|TPO_uc002qwr.2_Silent_p.S97S|TPO_uc002qwx.2_Silent_p.S97S|TPO_uc010yio.1_Silent_p.S97S|TPO_uc010yip.1_Silent_p.S97S	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	97	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392316	3392316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392316G>A	uc002qxm.1	+	2	1128	c.922G>A	c.(922-924)GAC>AAC	p.D308N	TTC15_uc002qxn.1_Missense_Mutation_p.D308N|TTC15_uc010ewm.1_Missense_Mutation_p.D308N|TTC15_uc002qxl.1_Missense_Mutation_p.D308N	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	308							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392319	3392319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392319G>A	uc002qxm.1	+	2	1131	c.925G>A	c.(925-927)GCC>ACC	p.A309T	TTC15_uc002qxn.1_Missense_Mutation_p.A309T|TTC15_uc010ewm.1_Missense_Mutation_p.A309T|TTC15_uc002qxl.1_Missense_Mutation_p.A309T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	309							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
RPS7	6201	broad.mit.edu	37	2	3627805	3627805	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3627805A>T	uc002qxw.2	+	6	568	c.462A>T	c.(460-462)ATA>ATT	p.I154I	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	154					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)														---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743888	3743888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3743888G>A	uc010ewt.2	+	9	852	c.691G>A	c.(691-693)GCG>ACG	p.A231T	ALLC_uc002qyf.2_Missense_Mutation_p.A2T	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	250							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3744991	3744991	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3744991A>T	uc010ewt.2	+	10	956	c.795A>T	c.(793-795)CGA>CGT	p.R265R	ALLC_uc002qyf.2_Silent_p.R36R	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	284							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)											HNSCC(21;0.051)			---	---	---	---
SOX11	6664	broad.mit.edu	37	2	5833108	5833108	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:5833108G>A	uc002qyj.2	+	1	310	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	85	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)														---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137188	7137188	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7137188C>T	uc002qys.2	+	3	573	c.131C>T	c.(130-132)ACT>ATT	p.T44I	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	44	RING-type 1; atypical.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7154836	7154836	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7154836C>T	uc002qys.2	+						RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561			ring finger protein 144							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871208	8871208	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8871208G>T	uc002qzc.2	-	30	5140	c.4958C>A	c.(4957-4959)CCT>CAT	p.P1653H	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1554H|KIDINS220_uc002qzb.2_Missense_Mutation_p.P507H	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1653	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8917030	8917030	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8917030A>G	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8919145	8919145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8919145T>A	uc002qzc.2	-	19	2677	c.2495A>T	c.(2494-2496)GAC>GTC	p.D832V	KIDINS220_uc010yiv.1_Missense_Mutation_p.D598V|KIDINS220_uc002qzd.2_Missense_Mutation_p.D790V|KIDINS220_uc010yiw.1_Missense_Mutation_p.D833V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	832	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8934031	8934031	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8934031T>A	uc002qzc.2	-	12	1367	c.1185A>T	c.(1183-1185)CGA>CGT	p.R395R	KIDINS220_uc010yiv.1_Silent_p.R161R|KIDINS220_uc002qzd.2_Silent_p.R353R|KIDINS220_uc010yiw.1_Silent_p.R396R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	395	Cytoplasmic (Potential).|ANK 12.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8937007	8937007	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8937007C>T	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
MBOAT2	129642	broad.mit.edu	37	2	9013440	9013440	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9013440G>A	uc002qzg.1	-						MBOAT2_uc010yix.1_Intron	NM_138799	NP_620154			O-acyltransferase (membrane bound) domain						phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531284	9531284	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531284C>A	uc002qzh.2	+	23	2817	c.2477C>A	c.(2476-2478)GCT>GAT	p.A826D	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	826	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531330	9531330	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531330G>A	uc002qzh.2	+						ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878			ArfGAP with SH3 domain, ankyrin repeat and PH						regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10095208	10095208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10095208G>A	uc002raa.2	+	2	356	c.185G>A	c.(184-186)GGC>GAC	p.G62D	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_RNA	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	62	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10130832	10130832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10130832G>A	uc002raa.2	+	10	1449	c.1278G>A	c.(1276-1278)GAG>GAA	p.E426E	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.E237E|GRHL1_uc010yjb.1_Silent_p.E275E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	426					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
HPCAL1	3241	broad.mit.edu	37	2	10559932	10559932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10559932C>T	uc002raj.2	+	3	423	c.49C>T	c.(49-51)CGG>TGG	p.R17W	HPCAL1_uc002rak.2_Missense_Mutation_p.R17W|HPCAL1_uc002ral.2_Missense_Mutation_p.R17W|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.R17W	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	17							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)														---	---	---	---
NOL10	79954	broad.mit.edu	37	2	10729375	10729375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10729375T>C	uc002raq.2	-	19	1763	c.1638A>G	c.(1636-1638)GAA>GAG	p.E546E	NOL10_uc010yje.1_Silent_p.E520E|NOL10_uc010yjf.1_Silent_p.E496E|NOL10_uc002rap.2_Silent_p.E496E	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	546	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)														---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10912074	10912074	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10912074G>A	uc002ras.2	+						ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451			vacuolar H+ ATPase C2 isoform a						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)														---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11765302	11765302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11765302G>A	uc002rbk.1	+	24	4470	c.4170G>A	c.(4168-4170)TGG>TGA	p.W1390*	GREB1_uc002rbp.1_Nonsense_Mutation_p.W388*	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1390						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11911703	11911703	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11911703A>G	uc010yjn.1	+	5	768	c.494A>G	c.(493-495)GAC>GGC	p.D165G	LPIN1_uc010yjm.1_Missense_Mutation_p.D214G|LPIN1_uc002rbt.2_Missense_Mutation_p.D165G|LPIN1_uc002rbs.2_Missense_Mutation_p.D165G	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	165					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)														---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863637	12863637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:12863637G>A	uc002rbv.3	+	2	1958	c.522G>A	c.(520-522)CGG>CGA	p.R174R	TRIB2_uc010yjp.1_Silent_p.R38R	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	174	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15769774	15769774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15769774A>G	uc002rce.2	+	24	2212	c.1924A>G	c.(1924-1926)AGA>GGA	p.R642G		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	642	Helicase C-terminal.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)														---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17697217	17697217	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17697217A>G	uc002rcl.1	-	1	2490	c.2466T>C	c.(2464-2466)AGT>AGC	p.S822S	RAD51AP2_uc010exn.1_Silent_p.S813S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	822										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898096	17898096	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17898096A>G	uc002rco.2	-	14	1554	c.1258T>C	c.(1258-1260)TTT>CTT	p.F420L	SMC6_uc010exo.2_Missense_Mutation_p.F420L|SMC6_uc002rcn.2_Missense_Mutation_p.F420L|SMC6_uc002rcp.1_Missense_Mutation_p.F446L|SMC6_uc002rcq.2_Missense_Mutation_p.F446L|SMC6_uc002rcr.1_Missense_Mutation_p.F420L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	420	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17954063	17954063	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17954063T>A	uc010exo.2	-						GEN1_uc002rct.2_Intron|GEN1_uc010yjs.1_Intron|GEN1_uc002rcu.2_Intron	NM_024624	NP_078900			SMC6 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962934	17962934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962934A>G	uc002rct.2	+	14	2528	c.2455A>G	c.(2455-2457)AGA>GGA	p.R819G	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.R819G|GEN1_uc002rcu.2_Missense_Mutation_p.R819G	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	819					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17962986	17962986	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17962986G>T	uc002rct.2	+	14	2580	c.2507G>T	c.(2506-2508)GGC>GTC	p.G836V	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.G836V|GEN1_uc002rcu.2_Missense_Mutation_p.G836V	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	836					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18766389	18766389	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18766389A>T	uc002rcz.2	-						NT5C1B_uc002rcy.2_Intron|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Intron|NT5C1B_uc010yjw.1_Intron|NT5C1B_uc010exs.2_Intron|NT5C1B_uc002rdb.1_5'Flank	NM_001002006	NP_001002006			5' nucleotidase, cytosolic IB isoform 1						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)																---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20403763	20403763	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20403763C>A	uc002rdo.1	-	3	737	c.438G>T	c.(436-438)CAG>CAT	p.Q146H	SDC1_uc002rdp.1_Missense_Mutation_p.Q146H|SDC1_uc010exv.2_Missense_Mutation_p.Q146H|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	146	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20451433	20451433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20451433C>T	uc002rds.1	-	20	3131	c.3108G>A	c.(3106-3108)AAG>AAA	p.K1036K	PUM2_uc002rdq.1_Silent_p.K415K|PUM2_uc002rdt.1_Silent_p.K1036K|PUM2_uc002rdr.2_Silent_p.K896K|PUM2_uc010yjy.1_Silent_p.K957K|PUM2_uc002rdu.1_Silent_p.K1036K|PUM2_uc010yjz.1_Silent_p.K975K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	1038	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20483138	20483138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20483138T>C	uc002rds.1	-	10	1424	c.1401A>G	c.(1399-1401)ACA>ACG	p.T467T	PUM2_uc002rdt.1_Silent_p.T467T|PUM2_uc002rdr.2_Silent_p.T406T|PUM2_uc010yjy.1_Silent_p.T467T|PUM2_uc002rdu.1_Silent_p.T467T|PUM2_uc010yjz.1_Silent_p.T406T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	467	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
APOB	338	broad.mit.edu	37	2	21224949	21224949	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21224949G>T	uc002red.2	-	29	13473	c.13345C>A	c.(13345-13347)CAG>AAG	p.Q4449K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4449					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230586	21230586	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230586T>G	uc002red.2	-	26	9282	c.9154A>C	c.(9154-9156)AAT>CAT	p.N3052H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3052					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21230676	21230676	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230676C>A	uc002red.2	-	26	9192	c.9064G>T	c.(9064-9066)GAT>TAT	p.D3022Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21232015	21232015	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21232015T>C	uc002red.2	-	26	7853	c.7725A>G	c.(7723-7725)AAA>AAG	p.K2575K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2575					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21237364	21237364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21237364C>A	uc002red.2	-	24	3926	c.3798G>T	c.(3796-3798)ATG>ATT	p.M1266I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1266					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21238370	21238370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21238370G>A	uc002red.2	-	22	3508	c.3380C>T	c.(3379-3381)CCC>CTC	p.P1127L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1127					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252548	21252548	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252548G>A	uc002red.2	-	12	1708	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	527	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21252767	21252767	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21252767T>C	uc002red.2	-							NM_000384	NP_000375			apolipoprotein B precursor						cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24033224	24033224	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24033224A>G	uc002rek.3	-	18	2710	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.S51P|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	806							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24046213	24046213	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24046213C>T	uc002rek.3	-	16	2340	c.2046G>A	c.(2044-2046)CTG>CTA	p.L682L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	682							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24194218	24194218	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24194218T>A	uc010exy.2	+	4	582	c.114T>A	c.(112-114)GAT>GAA	p.D38E	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D38E|UBXN2A_uc010ykj.1_Missense_Mutation_p.D38E	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	38											0																		---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24205770	24205770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24205770T>A	uc010exy.2	+	6	760	c.292T>A	c.(292-294)TTA>ATA	p.L98I	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.L98I|UBXN2A_uc010ykj.1_Missense_Mutation_p.L98I	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	98	SEP.										0																		---	---	---	---
LOC375190	375190	broad.mit.edu	37	2	24342558	24342558	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24342558T>A	uc002rew.2	+						PFN4_uc002rfa.1_Intron					SubName: Full=Putative uncharacterized protein C2orf84;												0																		---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24493619	24493619	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24493619A>G	uc002rfe.2	-	20	2534	c.2276T>C	c.(2275-2277)TTG>TCG	p.L759S	ITSN2_uc002rff.2_Missense_Mutation_p.L732S|ITSN2_uc002rfg.2_Missense_Mutation_p.L759S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	759	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24533475	24533475	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24533475T>A	uc002rfe.2	-	6	697	c.439A>T	c.(439-441)ACC>TCC	p.T147S	ITSN2_uc002rff.2_Missense_Mutation_p.T147S|ITSN2_uc002rfg.2_Missense_Mutation_p.T147S|ITSN2_uc010eyd.2_Missense_Mutation_p.T147S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	147					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24927967	24927967	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24927967G>A	uc002rfk.2	+	10	1220	c.962G>A	c.(961-963)GGC>GAC	p.G321D	NCOA1_uc010eye.2_Missense_Mutation_p.G321D|NCOA1_uc002rfi.2_Missense_Mutation_p.G170D|NCOA1_uc002rfj.2_Missense_Mutation_p.G321D|NCOA1_uc002rfl.2_Missense_Mutation_p.G321D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	321									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929562	24929562	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24929562C>T	uc002rfk.2	+	11	1481	c.1223C>T	c.(1222-1224)CCA>CTA	p.P408L	NCOA1_uc010eye.2_Missense_Mutation_p.P408L|NCOA1_uc002rfi.2_Missense_Mutation_p.P257L|NCOA1_uc002rfj.2_Missense_Mutation_p.P408L|NCOA1_uc002rfl.2_Missense_Mutation_p.P408L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	408	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
CENPO	79172	broad.mit.edu	37	2	25037355	25037355	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25037355T>A	uc002rfo.1	+	4	516	c.327T>A	c.(325-327)CAT>CAA	p.H109Q	CENPO_uc002rfn.2_Missense_Mutation_p.H109Q|CENPO_uc002rfp.1_Missense_Mutation_p.H103Q|CENPO_uc002rfq.1_Missense_Mutation_p.H109Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	109	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25384290	25384290	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25384290C>T	uc002rfy.1	-	4	727	c.464G>A	c.(463-465)CGC>CAC	p.R155H	POMC_uc002rfz.1_Missense_Mutation_p.R155H|POMC_uc002rga.1_Missense_Mutation_p.R155H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	155					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)													---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25463242	25463242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25463242A>T	uc002rgc.2	-	19	2508	c.2251T>A	c.(2251-2253)TTC>ATC	p.F751I	DNMT3A_uc002rgd.2_Missense_Mutation_p.F751I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.F562I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	751					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26437359	26437359	+	Nonsense_Mutation	SNP	G	A	A	rs137852775		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26437359G>A	uc002rgy.2	-	9	1001	c.871C>T	c.(871-873)CGA>TGA	p.R291*	HADHA_uc010yks.1_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)													---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26502916	26502916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26502916T>C	uc002rgz.2	+	10	1117	c.866T>C	c.(865-867)ATG>ACG	p.M289T	HADHB_uc010ykv.1_Missense_Mutation_p.M267T|HADHB_uc010ykw.1_Missense_Mutation_p.M274T|HADHB_uc002rha.2_Missense_Mutation_p.M166T|HADHB_uc010ykx.1_Missense_Mutation_p.M215T	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	289					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26644259	26644259	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26644259A>C	uc002rhg.2	+	3	421	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	116	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf39	92749	broad.mit.edu	37	2	26676390	26676390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26676390C>T	uc002rhg.2	+	14	1966	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	631											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26695445	26695445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26695445A>G	uc002rhk.2	-	30	3933	c.3806T>C	c.(3805-3807)GTG>GCG	p.V1269A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.V502A|OTOF_uc002rhi.2_Missense_Mutation_p.V579A|OTOF_uc002rhj.2_Missense_Mutation_p.V502A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1269	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26702518	26702518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26702518T>C	uc002rhk.2	-	17	2043	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	639	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26741942	26741942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26741942A>G	uc002rhk.2	-	4	390	c.263T>C	c.(262-264)GTG>GCG	p.V88A	OTOF_uc010ylb.1_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	88	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27162933	27162933	+	Missense_Mutation	SNP	C	T	T	rs147693720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27162933C>T	uc002rhu.3	+	9	1140	c.982C>T	c.(982-984)CCT>TCT	p.P328S	DPYSL5_uc002rhv.3_Missense_Mutation_p.P328S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	328					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27276785	27276785	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27276785T>A	uc002rie.2	+	4	626	c.409T>A	c.(409-411)TTA>ATA	p.L137I	AGBL5_uc002ric.2_Missense_Mutation_p.L137I|AGBL5_uc002rid.2_Missense_Mutation_p.L137I|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	137					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449763	27449763	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27449763T>A	uc002rji.2	+	15	2382	c.2220T>A	c.(2218-2220)ATT>ATA	p.I740I	CAD_uc010eyw.2_Silent_p.I677I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	740	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481702	27481702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27481702T>C	uc002rjk.2	-	2	382	c.196A>G	c.(196-198)ACC>GCC	p.T66A	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.T61A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	66	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
TRIM54	57159	broad.mit.edu	37	2	27529138	27529138	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27529138C>A	uc002rjo.2	+	7	924	c.924C>A	c.(922-924)AGC>AGA	p.S308R	TRIM54_uc002rjn.2_Missense_Mutation_p.S350R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	308	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27560373	27560373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27560373A>G	uc002rjv.1	-	7	1366	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.W346R|GTF3C2_uc002rjw.1_Missense_Mutation_p.W335R|GTF3C2_uc010eyz.1_Missense_Mutation_p.W335R|uc002rjy.1_RNA	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	335						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27676295	27676295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27676295G>A	uc002rku.2	-	35	3958	c.3907C>T	c.(3907-3909)CGA>TGA	p.R1303*	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1303	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27680796	27680796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27680796T>C	uc002rku.2	-	28	3074	c.3023A>G	c.(3022-3024)AAA>AGA	p.K1008R		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1008					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27682682	27682682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27682682G>A	uc002rku.2	-	24	2587	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	846					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800214	27800214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800214A>G	uc002rkz.3	+	1	826	c.775A>G	c.(775-777)ACT>GCT	p.T259A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	259										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28739692	28739692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28739692A>G	uc002rmb.1	+	2	73	c.73A>G	c.(73-75)ACC>GCC	p.T25A	PLB1_uc010ezj.1_Missense_Mutation_p.T25A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	25	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29287753	29287753	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29287753C>A	uc002rmt.1	-	2	3849	c.3849G>T	c.(3847-3849)CAG>CAT	p.Q1283H		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	1283					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1																		---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29386758	29386758	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29386758T>C	uc002rmv.2	+	13	1835	c.1596T>C	c.(1594-1596)GGT>GGC	p.G532G	CLIP4_uc002rmu.2_Silent_p.G532G|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	532	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ALK	238	broad.mit.edu	37	2	29462672	29462672	+	Silent	SNP	G	A	A	rs111253753	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29462672G>A	uc002rmy.2	-	13	3136	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	743	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30381637	30381637	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30381637C>T	uc002rna.3	+	5	855	c.294C>T	c.(292-294)CGC>CGT	p.R98R	YPEL5_uc002rnb.3_Silent_p.R98R|YPEL5_uc002rnc.3_Silent_p.R98R|YPEL5_uc002rmz.3_Silent_p.R98R|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Silent_p.R98R	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	98							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
LCLAT1	253558	broad.mit.edu	37	2	30682536	30682536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30682536G>A	uc002rnj.2	+	2	267	c.58G>A	c.(58-60)GCA>ACA	p.A20T	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A20T|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_5'UTR	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	20					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2																		---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30957312	30957312	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30957312T>C	uc002rnn.2	-						CAPN13_uc002rnm.2_Intron	NM_144575	NP_653176			calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31562486	31562486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31562486A>G	uc002rnv.1	-	34	3722	c.3643T>C	c.(3643-3645)TCC>CCC	p.S1215P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1215					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
XDH	7498	broad.mit.edu	37	2	31588888	31588888	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31588888T>C	uc002rnv.1	-	22	2489	c.2410A>G	c.(2410-2412)ACC>GCC	p.T804A		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	804					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32417985	32417985	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32417985A>G	uc002roe.1	+	7	403	c.366_splice	c.e7-2	p.S122_splice	SLC30A6_uc002rof.1_Splice_Site_p.S162_splice|SLC30A6_uc010ymw.1_Splice_Site_p.S93_splice|SLC30A6_uc010ezr.1_Splice_Site_p.S122_splice|SLC30A6_uc002rog.1_Splice_Site|SLC30A6_uc010ezs.1_Splice_Site_p.S48_splice|SLC30A6_uc002roh.1_Splice_Site	NM_017964	NP_060434			solute carrier family 30 (zinc transporter),							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476209	32476209	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32476209T>G	uc002roi.2	-	4	970	c.724A>C	c.(724-726)AGG>CGG	p.R242R	NLRC4_uc002roj.1_Silent_p.R242R|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32694625	32694625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32694625C>T	uc010ezu.2	+	30	6424	c.6290C>T	c.(6289-6291)TCT>TTT	p.S2097F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2097					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32724640	32724640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32724640C>A	uc010ezu.2	+	46	8629	c.8495C>A	c.(8494-8496)CCT>CAT	p.P2832H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2832					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	33036137	33036137	+	Missense_Mutation	SNP	G	A	A	rs147021005		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33036137G>A	uc002rom.2	+	17	2276	c.2045G>A	c.(2044-2046)CGA>CAA	p.R682Q	TTC27_uc010ymx.1_Missense_Mutation_p.R632Q|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682							protein binding			central_nervous_system(1)	1																		---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589422	33589422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589422C>T	uc002ros.2	+	30	4542	c.4542C>T	c.(4540-4542)AAC>AAT	p.N1514N	LTBP1_uc002rot.2_Silent_p.N1188N|LTBP1_uc002rou.2_Silent_p.N1187N|LTBP1_uc002rov.2_Silent_p.N1134N|LTBP1_uc010ymz.1_Silent_p.N1145N|LTBP1_uc010yna.1_Silent_p.N1092N|LTBP1_uc010ynb.1_Silent_p.N411N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1513					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33589423	33589423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33589423G>A	uc002ros.2	+	30	4543	c.4543G>A	c.(4543-4545)GAA>AAA	p.E1515K	LTBP1_uc002rot.2_Missense_Mutation_p.E1189K|LTBP1_uc002rou.2_Missense_Mutation_p.E1188K|LTBP1_uc002rov.2_Missense_Mutation_p.E1135K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1146K|LTBP1_uc010yna.1_Missense_Mutation_p.E1093K|LTBP1_uc010ynb.1_Missense_Mutation_p.E412K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1514					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33810274	33810274	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33810274C>T	uc002rpa.1	-	8	1200	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	FAM98A_uc010yne.1_Missense_Mutation_p.G181R|FAM98A_uc010ynd.1_Missense_Mutation_p.G207R|FAM98A_uc002roz.1_Missense_Mutation_p.G214R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	377	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)																	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36764546	36764546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36764546C>T	uc002rpd.2	+	14	2519	c.2480C>T	c.(2479-2481)GCC>GTC	p.A827V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	827	Extracellular (Potential).|VWFC 6.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)																---	---	---	---
VIT	5212	broad.mit.edu	37	2	36982084	36982084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36982084G>A	uc002rpl.2	+	5	517	c.296G>A	c.(295-297)GGA>GAA	p.G99E	VIT_uc002rpk.2_Missense_Mutation_p.G92E|VIT_uc010ynf.1_Missense_Mutation_p.G92E|VIT_uc002rpm.2_Missense_Mutation_p.G92E|VIT_uc010ezv.2_Missense_Mutation_p.G92E|VIT_uc010ezw.2_Missense_Mutation_p.G92E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	99	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255304	37255304	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255304T>C	uc002rpp.1	-	24	3711	c.3615A>G	c.(3613-3615)GCA>GCG	p.A1205A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1205							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255956	37255956	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37255956G>A	uc002rpp.1	-	23	3565	c.3469C>T	c.(3469-3471)CTA>TTA	p.L1157L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1157							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
SULT6B1	391365	broad.mit.edu	37	2	37402358	37402358	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37402358T>G	uc002rpu.2	-	5	448	c.427A>C	c.(427-429)AGG>CGG	p.R143R	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	181						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37442030	37442030	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37442030T>C	uc002rpz.2	-	9	2476	c.2446A>G	c.(2446-2448)AGG>GGG	p.R816G		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	816					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454697	37454697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454697C>T	uc002rpz.2	-	2	1669	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	547					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454859	37454859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37454859C>T	uc002rpz.2	-	2	1507	c.1477G>A	c.(1477-1479)GCA>ACA	p.A493T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	493					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37459358	37459358	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37459358T>A	uc002rqa.3	+	2	240	c.165T>A	c.(163-165)GGT>GGA	p.G55G	CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.G55G|C2orf56_uc010ynk.1_Silent_p.G55G|C2orf56_uc010ynl.1_Silent_p.G55G	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	55					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
C2orf56	55471	broad.mit.edu	37	2	37474636	37474636	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37474636C>T	uc002rqa.3	+	9	1049	c.974C>T	c.(973-975)GCC>GTC	p.A325V	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.A227V|C2orf56_uc010ynk.1_Missense_Mutation_p.A254V|C2orf56_uc010ynl.1_Missense_Mutation_p.A298V|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	325					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873127	37873127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37873127C>T	uc002rqi.1	-	2	1597	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	202					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)																---	---	---	---
SFRS7	6432	broad.mit.edu	37	2	38975244	38975244	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38975244A>T	uc002rqz.2	-	5	755	c.517T>A	c.(517-519)TCA>ACA	p.S173T	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S173T	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	173	3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)																---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39083499	39083499	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39083499G>A	uc002rrf.2	-	7	1791	c.1692C>T	c.(1690-1692)GTC>GTT	p.V564V	DHX57_uc002rrd.3_5'Flank|DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.V564V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	564	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)																---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222407	39222407	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39222407A>T	uc002rrk.3	-	20	3244	c.3203T>A	c.(3202-3204)ATC>AAC	p.I1068N	SOS1_uc002rrj.3_Missense_Mutation_p.I682N	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1068					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)												Noonan_syndrome				---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39481646	39481646	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39481646C>A	uc002rro.2	-	32	2577	c.2486G>T	c.(2485-2487)AGT>ATT	p.S829I	MAP4K3_uc002rrp.2_Missense_Mutation_p.S808I|MAP4K3_uc010yns.1_Missense_Mutation_p.S382I	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	829	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---
EML4	27436	broad.mit.edu	37	2	42522632	42522632	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42522632C>T	uc002rsi.2	+	13	1727	c.1465C>T	c.(1465-1467)CCC>TCC	p.P489S	EML4_uc010fap.2_Missense_Mutation_p.P431S|EML4_uc002rsj.2_Missense_Mutation_p.P178S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	489	WD 4.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
KCNG3	170850	broad.mit.edu	37	2	42671387	42671387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42671387G>A	uc002rsn.2	-	2	1594	c.998C>T	c.(997-999)GCC>GTC	p.A333V	KCNG3_uc002rsm.2_Missense_Mutation_p.A322V	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	333	Helical; Name=Segment S5; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1																		---	---	---	---
HAAO	23498	broad.mit.edu	37	2	43015741	43015741	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43015741C>T	uc002rst.3	-	2	162	c.87G>A	c.(85-87)CAG>CAA	p.Q29Q	HAAO_uc010ynw.1_Silent_p.Q29Q	NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	29	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1																		---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44003961	44003961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44003961A>G	uc002rtk.2	+	2	145	c.49A>G	c.(49-51)AGG>GGG	p.R17G	DYNC2LI1_uc002rth.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rti.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.R17G|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R17G|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	17						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44104732	44104732	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44104732C>T	uc002rtq.2	+	12	1879	c.1789C>T	c.(1789-1791)CGG>TGG	p.R597W	ABCG8_uc010yoa.1_Missense_Mutation_p.R596W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	597	ABC transmembrane type-2.|Extracellular (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)														OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44436458	44436458	+	Missense_Mutation	SNP	G	A	A	rs74261788		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44436458G>A	uc002rtt.2	+	3	1384	c.956G>A	c.(955-957)CGG>CAG	p.R319Q	PPM1B_uc002rts.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtu.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtv.2_Missense_Mutation_p.R32Q|PPM1B_uc002rtw.2_Missense_Mutation_p.R319Q|PPM1B_uc002rtx.2_Missense_Mutation_p.R319Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	319					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44445160	44445160	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44445160G>A	uc002rtt.2	+	4	1447	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H	PPM1B_uc002rtu.2_Missense_Mutation_p.R340H|PPM1B_uc002rtv.2_Missense_Mutation_p.R53H|PPM1B_uc002rtw.2_Missense_Mutation_p.R340H|PPM1B_uc002rtx.2_Missense_Mutation_p.R340H	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	340					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44539794	44539794	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44539794C>T	uc002ruc.3	+	8	1480	c.1402C>T	c.(1402-1404)CTT>TTT	p.L468F	SLC3A1_uc002rtz.2_Missense_Mutation_p.L468F|SLC3A1_uc002rua.2_Missense_Mutation_p.L468F|SLC3A1_uc002rub.2_Missense_Mutation_p.L468F|SLC3A1_uc002rud.3_Missense_Mutation_p.L190F|SLC3A1_uc002rue.3_Missense_Mutation_p.L88F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	468	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)													---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46605883	46605883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46605883G>A	uc002ruv.2	+	11	2019	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	511	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46608724	46608724	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46608724G>A	uc002ruv.2	+						EPAS1_uc002ruw.2_Intron	NM_001430	NP_001421			endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
CALM2	805	broad.mit.edu	37	2	47389439	47389439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47389439G>A	uc002rvt.2	-	4	429	c.271C>T	c.(271-273)CGT>TGT	p.R91C	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	91	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)													---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48032855	48032855	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48032855T>C	uc002rwd.3	+						MSH6_uc010fbj.2_Intron|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Intron	NM_000179	NP_000170			mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48045997	48045997	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48045997C>T	uc010fbl.2	-	16	1789	c.1675G>A	c.(1675-1677)GTT>ATT	p.V559I	FBXO11_uc002rwe.2_Missense_Mutation_p.V559I|FBXO11_uc002rwf.2_Missense_Mutation_p.V559I|FBXO11_uc002rwg.1_Missense_Mutation_p.V559I|FBXO11_uc010fbk.2_Missense_Mutation_p.V67I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	643	PbH1 11.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48049367	48049367	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48049367A>G	uc010fbl.2	-	13	1554	c.1440T>C	c.(1438-1440)AAT>AAC	p.N480N	FBXO11_uc002rwe.2_Silent_p.N480N|FBXO11_uc002rwf.2_Silent_p.N480N|FBXO11_uc002rwg.1_Silent_p.N480N|FBXO11_uc010fbk.2_Missense_Mutation_p.M20T	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	564	PbH1 8.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48063100	48063100	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48063100T>C	uc010fbl.2	-	5	490	c.376A>G	c.(376-378)ATG>GTG	p.M126V	FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	210					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066614	48066614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48066614T>C	uc010fbl.2	-	3	248	c.134A>G	c.(133-135)AAC>AGC	p.N45S	FBXO11_uc002rwe.2_Missense_Mutation_p.N45S|FBXO11_uc002rwf.2_Missense_Mutation_p.N45S|FBXO11_uc002rwg.1_Missense_Mutation_p.N45S	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	129					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48681829	48681829	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48681829A>T	uc002rwm.2	+	3	407	c.222A>T	c.(220-222)GAA>GAT	p.E74D	KLRAQ1_uc002rwi.1_Missense_Mutation_p.E74D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.E74D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E28D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E74D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E74D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	74	Potential.									ovary(1)	1																		---	---	---	---
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808804	48808804	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48808804C>T	uc010yol.1	+	1	1079	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I	STON1_uc002rwo.3_Silent_p.I344I|STON1_uc010fbm.2_Silent_p.I344I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I344I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I344I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	344					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50850688	50850688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50850688G>A	uc010fbq.2	-	6	2474	c.997C>T	c.(997-999)CCC>TCC	p.P333S	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.P300S|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255150	51255150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:51255150G>A	uc010fbq.2	-	2	1739	c.262C>T	c.(262-264)CGC>TGC	p.R88C	NRXN1_uc002rxe.3_Missense_Mutation_p.R88C|NRXN1_uc002rxd.1_Missense_Mutation_p.R88C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
ASB3	51130	broad.mit.edu	37	2	53956630	53956630	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53956630A>G	uc002rxg.1	-	4	568	c.433T>C	c.(433-435)TGT>CGT	p.C145R	ASB3_uc002rxh.1_Missense_Mutation_p.C72R|ASB3_uc002rxi.3_Missense_Mutation_p.C183R|ASB3_uc010yoo.1_Intron	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	145	ANK 5.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54028595	54028595	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54028595G>A	uc002rxl.2	+	7	867	c.587G>A	c.(586-588)GGT>GAT	p.G196D	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.G196D|ERLEC1_uc002rxn.2_Missense_Mutation_p.G196D	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	196					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2																		---	---	---	---
ASB3	51130	broad.mit.edu	37	2	54040075	54040075	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54040075T>C	uc002rxi.3	-						ERLEC1_uc002rxl.2_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Intron	NM_001164165	NP_001157637			hypothetical protein LOC100302652						intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
GPR75	10936	broad.mit.edu	37	2	54080358	54080358	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54080358A>G	uc002rxo.3	-	2	1807	c.1536T>C	c.(1534-1536)TAT>TAC	p.Y512Y	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	512	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54117289	54117289	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54117289A>T	uc002rxp.2	-	37	4304	c.4248T>A	c.(4246-4248)ATT>ATA	p.I1416I	PSME4_uc010yop.1_Silent_p.I1302I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.I791I|PSME4_uc010fbv.1_Silent_p.I560I|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54163234	54163234	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54163234T>A	uc002rxp.2	-	7	880	c.824A>T	c.(823-825)TAT>TTT	p.Y275F	PSME4_uc010yop.1_Missense_Mutation_p.Y161F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482364	54482364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482364T>A	uc002rxr.2	-	1	1046	c.925A>T	c.(925-927)ATT>TTT	p.I309F	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	309					nucleosome assembly	nucleus					0																		---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482753	54482753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54482753G>A	uc002rxr.2	-	1	657	c.536C>T	c.(535-537)GCA>GTA	p.A179V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	179					nucleosome assembly	nucleus					0																		---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55561385	55561385	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55561385T>A	uc002ryv.2	-	15	3414	c.2572A>T	c.(2572-2574)AAG>TAG	p.K858*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.K858*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.K760*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.K141*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.K141*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	858	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---
CCDC104	112942	broad.mit.edu	37	2	55756032	55756032	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55756032T>C	uc002ryy.2	+	4	499	c.301T>C	c.(301-303)TTG>CTG	p.L101L	CCDC104_uc002ryx.2_Silent_p.L126L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	101										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55863427	55863427	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55863427C>G	uc002rzf.2	-	28	2350	c.2297G>C	c.(2296-2298)AGA>ACA	p.R766T	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	766					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56108868	56108868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56108868G>A	uc002rzh.2	-	5	849	c.519C>T	c.(517-519)GAC>GAT	p.D173D	EFEMP1_uc002rzi.2_Silent_p.D173D|EFEMP1_uc002rzj.2_Silent_p.D173D|EFEMP1_uc010ypc.1_Silent_p.D115D	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	173	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144864	56144864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144864G>A	uc002rzh.2	-	4	783	c.453C>T	c.(451-453)TCC>TCT	p.S151S	EFEMP1_uc002rzi.2_Silent_p.S151S|EFEMP1_uc002rzj.2_Silent_p.S151S|EFEMP1_uc010ypc.1_Silent_p.S93S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	151					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56144942	56144942	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56144942G>A	uc002rzh.2	-	4	705	c.375C>T	c.(373-375)GTC>GTT	p.V125V	EFEMP1_uc002rzi.2_Silent_p.V125V|EFEMP1_uc002rzj.2_Silent_p.V125V|EFEMP1_uc010ypc.1_Silent_p.V67V	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	125					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58386904	58386904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58386904T>C	uc002rzw.3	-	14	1191	c.1124A>G	c.(1123-1125)CAC>CGC	p.H375R	VRK2_uc002rzo.2_3'UTR|VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_3'UTR|VRK2_uc002rzv.2_3'UTR|VRK2_uc010fcd.2_3'UTR|VRK2_uc002rzp.2_3'UTR|VRK2_uc010ypg.1_3'UTR|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_3'UTR|FANCL_uc002rzx.3_Missense_Mutation_p.H380R|FANCL_uc010fce.2_Missense_Mutation_p.H347R	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	375					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58392975	58392975	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58392975G>C	uc002rzw.3	-	8	642	c.575C>G	c.(574-576)GCA>GGA	p.A192G	FANCL_uc002rzx.3_Missense_Mutation_p.A197G|FANCL_uc010fce.2_Missense_Mutation_p.A192G|FANCL_uc010fcf.1_Missense_Mutation_p.A133G	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	192					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
REL	5966	broad.mit.edu	37	2	61145339	61145339	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61145339T>C	uc002sam.1	+	6	773	c.549T>C	c.(547-549)ACT>ACC	p.T183T	REL_uc002san.1_Silent_p.T183T	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	183	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)					A		Hodgkin Lymphoma								---	---	---	---
USP34	9736	broad.mit.edu	37	2	61475803	61475803	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61475803T>C	uc002sbe.2	-	49	6259	c.6237A>G	c.(6235-6237)AAA>AAG	p.K2079K	USP34_uc002sbf.2_Silent_p.K229K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2079					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575064	61575064	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61575064T>A	uc002sbe.2	-	15	2248	c.2226A>T	c.(2224-2226)CGA>CGT	p.R742R		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	742					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61607407	61607407	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61607407A>T	uc002sbe.2	-	7	933	c.911T>A	c.(910-912)TTG>TAG	p.L304*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	304					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719260	61719260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719260G>A	uc002sbj.2	-	16	2525	c.1797C>T	c.(1795-1797)TTC>TTT	p.F599F	XPO1_uc010fcl.2_Silent_p.F595F|XPO1_uc010ypn.1_Silent_p.F595F|XPO1_uc002sbk.2_Silent_p.F160F|XPO1_uc002sbh.2_Silent_p.F246F	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	599	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61719733	61719733	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61719733T>C	uc002sbj.2	-	14	2263	c.1535A>G	c.(1534-1536)GAC>GGC	p.D512G	XPO1_uc010fcl.2_Missense_Mutation_p.D508G|XPO1_uc010ypn.1_Missense_Mutation_p.D508G|XPO1_uc002sbk.2_Missense_Mutation_p.D73G|XPO1_uc002sbh.2_Missense_Mutation_p.D159G	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	512	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61722717	61722717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61722717G>A	uc002sbj.2	-	11	1648	c.920C>T	c.(919-921)GCG>GTG	p.A307V	XPO1_uc010fcl.2_Missense_Mutation_p.A303V|XPO1_uc010ypn.1_Missense_Mutation_p.A303V|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	307	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)															---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63170997	63170997	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63170997T>C	uc002sby.2	+						EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067			EH domain binding protein 1 isoform 1							cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)											Hereditary_Prostate_Cancer				---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63280175	63280175	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63280175T>G	uc002scd.2	+	3	298	c.50T>G	c.(49-51)CTG>CGG	p.L17R	OTX1_uc010ypt.1_5'UTR	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)																	---	---	---	---
C2orf86	51057	broad.mit.edu	37	2	63712103	63712103	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63712103G>A	uc002sch.2	-	5	718	c.272C>T	c.(271-273)ACG>ATG	p.T91M	C2orf86_uc002sci.1_Missense_Mutation_p.T67M|C2orf86_uc010fcr.1_5'Flank	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	91					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0																		---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64114742	64114742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64114742A>G	uc002scm.2	+	8	1584	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	UGP2_uc002scl.2_Silent_p.T415T|UGP2_uc010ypx.1_Silent_p.T435T	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	426					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778626	64778626	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64778626T>G	uc002sdc.2	+	1	50	c.18T>G	c.(16-18)ATT>ATG	p.I6M	AFTPH_uc002scz.2_Missense_Mutation_p.I6M|AFTPH_uc002sda.2_Missense_Mutation_p.I6M|AFTPH_uc002sdb.2_Missense_Mutation_p.I6M	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	6					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64796799	64796799	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64796799T>C	uc002sdc.2	+	4	2289	c.2257T>C	c.(2257-2259)TAT>CAT	p.Y753H	AFTPH_uc002scz.2_Missense_Mutation_p.Y753H|AFTPH_uc002sda.2_Missense_Mutation_p.Y753H|AFTPH_uc002sdb.2_Missense_Mutation_p.Y753H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	753					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67630573	67630573	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:67630573G>A	uc002sdz.1	+	5	898	c.759G>A	c.(757-759)AAG>AAA	p.K253K		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	253						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4																		---	---	---	---
PNO1	56902	broad.mit.edu	37	2	68385539	68385539	+	Missense_Mutation	SNP	C	G	G	rs150153986	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68385539C>G	uc002seh.2	+	2	297	c.235C>G	c.(235-237)CCA>GCA	p.P79A	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	79						nucleolus	RNA binding				0																		---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68620387	68620387	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68620387T>C	uc002sen.3	+						PLEK_uc010fde.2_Intron	NM_002664	NP_002655			pleckstrin						actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)														---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69009410	69009410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69009410A>G	uc002seu.2	+	3	671	c.307A>G	c.(307-309)AAC>GAC	p.N103D	ARHGAP25_uc010yqk.1_Missense_Mutation_p.N77D|ARHGAP25_uc010fdg.2_Missense_Mutation_p.N103D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N103D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N96D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N96D|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	103	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69049650	69049650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69049650G>A	uc002seu.2	+	10	1740	c.1376G>A	c.(1375-1377)AGC>AAC	p.S459N	ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460N|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420N|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452N|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453N|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186N	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093458	69093458	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093458T>C	uc002sez.1	-	2	739	c.580A>G	c.(580-582)ACC>GCC	p.T194A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	194					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093671	69093671	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69093671G>C	uc002sez.1	-	2	526	c.367C>G	c.(367-369)CTC>GTC	p.L123V		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	123					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2																		---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69300209	69300209	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69300209T>A	uc002sfg.2	+	6	824	c.468T>A	c.(466-468)GAT>GAA	p.D156E	ANTXR1_uc002sfe.2_Missense_Mutation_p.D156E|ANTXR1_uc002sff.2_Missense_Mutation_p.D156E|ANTXR1_uc002sfd.2_Missense_Mutation_p.D156E	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	156	Extracellular (Potential).|Interaction with PA.|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69379379	69379379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69379379C>T	uc002sfg.2	+	13	1386	c.1030C>T	c.(1030-1032)CCC>TCC	p.P344S	ANTXR1_uc002sff.2_Missense_Mutation_p.P344S	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	344	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4														Familial_Infantile_Hemangioma				---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69708009	69708009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69708009A>G	uc002sfp.2	-	19	3057	c.2552T>C	c.(2551-2553)GTG>GCG	p.V851A		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	851						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408456	70408456	+	Missense_Mutation	SNP	C	T	T	rs139242568		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408456C>T	uc002sgh.2	-	3	990	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	221											0																		---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408477	70408477	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70408477C>A	uc002sgh.2	-	3	969	c.641G>T	c.(640-642)GGC>GTC	p.G214V		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	214											0																		---	---	---	---
ADD2	119	broad.mit.edu	37	2	70890850	70890850	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70890850C>T	uc002sgz.2	-	16	2353	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E324K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71036894	71036894	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71036894T>C	uc002shf.2	-	6	1712	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	CLEC4F_uc010yqv.1_Silent_p.P545P	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	545	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71625868	71625868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71625868A>G	uc002shx.2	+	12	2785	c.2466A>G	c.(2464-2466)GTA>GTG	p.V822V	ZNF638_uc010yqw.1_Silent_p.V401V|ZNF638_uc002shy.2_Silent_p.V822V|ZNF638_uc002shz.2_Silent_p.V822V|ZNF638_uc002sia.2_Silent_p.V822V|ZNF638_uc002sib.1_Silent_p.V822V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	822					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71660407	71660407	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71660407T>A	uc002shx.2	+	27	6184	c.5865T>A	c.(5863-5865)AAT>AAA	p.N1955K	ZNF638_uc002shy.2_Missense_Mutation_p.N1955K|ZNF638_uc002shz.2_Missense_Mutation_p.N1934K|ZNF638_uc002sia.2_Missense_Mutation_p.N1955K|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.N1052K|ZNF638_uc002sid.2_Missense_Mutation_p.N324K	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1955	Matrin-type.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71681161	71681161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71681161C>T	uc002sie.2	+	1	409	c.33C>T	c.(31-33)AAC>AAT	p.N11N	DYSF_uc010feg.2_Silent_p.N11N|DYSF_uc010feh.2_Silent_p.N11N|DYSF_uc002sig.3_Silent_p.N11N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.N11N|DYSF_uc010fef.2_Silent_p.N11N|DYSF_uc010fei.2_Silent_p.N11N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	11	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71795459	71795459	+	Missense_Mutation	SNP	C	T	T	rs150717638		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71795459C>T	uc002sie.2	+	26	3177	c.2801C>T	c.(2800-2802)CCG>CTG	p.P934L	DYSF_uc010feg.2_Missense_Mutation_p.P965L|DYSF_uc010feh.2_Missense_Mutation_p.P920L|DYSF_uc002sig.3_Missense_Mutation_p.P920L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P934L|DYSF_uc010fef.2_Missense_Mutation_p.P951L|DYSF_uc010fei.2_Missense_Mutation_p.P951L|DYSF_uc010fek.2_Missense_Mutation_p.P952L|DYSF_uc010fej.2_Missense_Mutation_p.P921L|DYSF_uc010fel.2_Missense_Mutation_p.P921L|DYSF_uc010feo.2_Missense_Mutation_p.P966L|DYSF_uc010fem.2_Missense_Mutation_p.P935L|DYSF_uc010fen.2_Missense_Mutation_p.P952L|DYSF_uc002sif.2_Missense_Mutation_p.P935L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	934	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71891479	71891479	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71891479C>T	uc002sie.2	+	45	5344	c.4968C>T	c.(4966-4968)GAC>GAT	p.D1656D	DYSF_uc010feg.2_Silent_p.D1687D|DYSF_uc010feh.2_Silent_p.D1663D|DYSF_uc002sig.3_Silent_p.D1642D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D1677D|DYSF_uc010fef.2_Silent_p.D1694D|DYSF_uc010fei.2_Silent_p.D1673D|DYSF_uc010fek.2_Silent_p.D1674D|DYSF_uc010fej.2_Silent_p.D1664D|DYSF_uc010fel.2_Silent_p.D1643D|DYSF_uc010feo.2_Silent_p.D1688D|DYSF_uc010fem.2_Silent_p.D1678D|DYSF_uc010fen.2_Silent_p.D1695D|DYSF_uc002sif.2_Silent_p.D1657D|DYSF_uc010yqy.1_Silent_p.D537D|DYSF_uc010yqz.1_Silent_p.D417D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1656	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72371112	72371112	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72371112T>C	uc002sih.1	-						CYP26B1_uc010yra.1_Intron|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938			cytochrome P450, family 26, subfamily b,						cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73476280	73476280	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73476280T>G	uc002siz.2	+	8	1047	c.945T>G	c.(943-945)CCT>CCG	p.P315P	CCT7_uc002sja.2_Silent_p.P111P|CCT7_uc010yrf.1_Silent_p.P271P|CCT7_uc010feu.2_Silent_p.P273P|CCT7_uc010yrg.1_Silent_p.P215P|CCT7_uc010yrh.1_Silent_p.P187P|CCT7_uc010yri.1_Silent_p.P228P	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	315					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0																		---	---	---	---
EGR4	1961	broad.mit.edu	37	2	73519364	73519364	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73519364C>T	uc010yrj.1	-	2	1066	c.991G>A	c.(991-993)GCC>ACC	p.A331T	EGR4_uc010yrk.1_Missense_Mutation_p.A330T	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	227						intracellular	nucleic acid binding|zinc ion binding				0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73646321	73646321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73646321G>T	uc002sje.1	+	4	635	c.524G>T	c.(523-525)AGG>ATG	p.R175M	ALMS1_uc002sjf.1_Missense_Mutation_p.R132M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	174					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73679769	73679769	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73679769C>A	uc002sje.1	+	10	6229	c.6118C>A	c.(6118-6120)CCA>ACA	p.P2040T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1996T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1426T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1426T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2038	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717072	73717072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717072C>A	uc002sje.1	+	12	8100	c.7989C>A	c.(7987-7989)TTC>TTA	p.F2663L	ALMS1_uc002sjf.1_Missense_Mutation_p.F2619L|ALMS1_uc002sjg.2_Missense_Mutation_p.F2049L|ALMS1_uc002sjh.1_Missense_Mutation_p.F2049L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2661					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717193	73717193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717193C>T	uc002sje.1	+	12	8221	c.8110C>T	c.(8110-8112)CCG>TCG	p.P2704S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2660S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2090S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2090S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2702					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717520	73717520	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717520T>G	uc002sje.1	+	12	8548	c.8437T>G	c.(8437-8439)TTA>GTA	p.L2813V	ALMS1_uc002sjf.1_Missense_Mutation_p.L2769V|ALMS1_uc002sjg.2_Missense_Mutation_p.L2199V|ALMS1_uc002sjh.1_Missense_Mutation_p.L2199V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2811					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74452027	74452027	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74452027T>C	uc002sko.1	-	24	3236	c.3234A>G	c.(3232-3234)AAA>AAG	p.K1078K	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.K1062K|SLC4A5_uc010ffc.1_Silent_p.K981K|SLC4A5_uc002skp.1_Silent_p.K960K|SLC4A5_uc002sks.1_Missense_Mutation_p.K970R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	1078	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74482997	74482997	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74482997G>A	uc002sko.1	-	8	932	c.930C>T	c.(928-930)GGC>GGT	p.G310G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G310G|SLC4A5_uc010ffc.1_Silent_p.G310G|SLC4A5_uc002skp.1_Silent_p.G246G|SLC4A5_uc002sks.1_Silent_p.G310G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	310	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74489328	74489328	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74489328G>A	uc002sko.1	-	6	749	c.747C>T	c.(745-747)GGC>GGT	p.G249G	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.G249G|SLC4A5_uc010ffc.1_Silent_p.G249G|SLC4A5_uc002skp.1_Silent_p.G185G|SLC4A5_uc002sks.1_Silent_p.G249G	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	249	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652568	74652568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74652568T>C	uc002slb.2	+	9	883	c.823T>C	c.(823-825)TTT>CTT	p.F275L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	275	WD 4.										0																		---	---	---	---
AUP1	550	broad.mit.edu	37	2	74754634	74754634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74754634G>A	uc010yrx.1	-	8	1222	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.P42S|AUP1_uc002smf.2_Missense_Mutation_p.P309S|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.P218S|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	375	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0																		---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74759794	74759794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74783646	74783646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74783646G>A	uc002sms.2	+	5	873	c.851G>A	c.(850-852)GGC>GAC	p.G284D	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G145D|DOK1_uc010ffo.2_Missense_Mutation_p.G145D|DOK1_uc002smt.2_Missense_Mutation_p.G70D|DOK1_uc002smu.2_Missense_Mutation_p.G70D|DOK1_uc010yrz.1_Missense_Mutation_p.G273D|DOK1_uc002smv.2_Missense_Mutation_p.G145D|DOK1_uc002smw.1_Missense_Mutation_p.G70D	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	284	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0																		---	---	---	---
C2orf65	130951	broad.mit.edu	37	2	74789369	74789369	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74789369T>G	uc002smy.2	-	8	1373	c.1256A>C	c.(1255-1257)CAT>CCT	p.H419P	C2orf65_uc010ysa.1_Missense_Mutation_p.H419P|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.H175P	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	419					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74883728	74883728	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74883728T>C	uc002sna.1	+	2	324	c.213T>C	c.(211-213)GAT>GAC	p.D71D	SEMA4F_uc010ysb.1_Silent_p.D71D|SEMA4F_uc010ffq.1_Silent_p.D71D|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.D71D	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	71	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
HK2	3099	broad.mit.edu	37	2	75101407	75101407	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75101407G>A	uc002snd.2	+	7	2632	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	236	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
FAM176A	84141	broad.mit.edu	37	2	75720435	75720435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75720435C>T	uc002sni.2	-	4	864	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FAM176A_uc002snj.1_Missense_Mutation_p.R116H|FAM176A_uc002snk.1_Missense_Mutation_p.R129H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	129					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0																		---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349971	79349971	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79349971G>A	uc002snz.2	+	5	429	c.326G>A	c.(325-327)CGC>CAC	p.R109H	REG1A_uc010ysd.1_Missense_Mutation_p.R109H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	109	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0																		---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136866	80136866	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80136866G>A	uc010ysh.1	+	6	1004	c.999G>A	c.(997-999)GCG>GCA	p.A333A	CTNNA2_uc010yse.1_Silent_p.A333A|CTNNA2_uc010ysf.1_Silent_p.A333A|CTNNA2_uc010ysg.1_Silent_p.A333A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	333					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529659	80529659	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529659A>T	uc002sok.1	-	2	1556	c.1286T>A	c.(1285-1287)GTC>GAC	p.V429D	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	429	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529813	80529813	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529813C>T	uc002sok.1	-	2	1402	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	378	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530105	80530105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530105C>T	uc002sok.1	-	2	1110	c.840G>A	c.(838-840)CCG>CCA	p.P280P	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	280	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530309	80530309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530309G>A	uc002sok.1	-	2	906	c.636C>T	c.(634-636)ACC>ACT	p.T212T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	212	LRR 6.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530481	80530481	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530481T>C	uc002sok.1	-	2	734	c.464A>G	c.(463-465)GAC>GGC	p.D155G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	155	LRR 3.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530587	80530587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530587G>A	uc002sok.1	-	2	628	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	120	LRR 2.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80801432	80801432	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80801432T>C	uc010ysh.1	+	12	1891	c.1886T>C	c.(1885-1887)ATG>ACG	p.M629T	CTNNA2_uc010yse.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M629T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M261T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	629					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85553786	85553786	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85553786C>T	uc010fgd.1	-	2	1358	c.1069G>A	c.(1069-1071)GGG>AGG	p.G357R	TGOLN2_uc002soz.2_Missense_Mutation_p.G357R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.G299R|TGOLN2_uc002spc.1_Missense_Mutation_p.G357R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	357	Extracellular (Potential).					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85892879	85892879	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85892879T>C	uc002sqh.2	-	5	438	c.432A>G	c.(430-432)AAA>AAG	p.K144K	SFTPB_uc002sqi.2_Silent_p.K156K|SFTPB_uc002sqj.2_Silent_p.K144K	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	144	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85894843	85894843	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85894843G>T	uc002sqh.2	-	2	160	c.154C>A	c.(154-156)CTA>ATA	p.L52I	SFTPB_uc002sqi.2_Missense_Mutation_p.L64I|SFTPB_uc002sqj.2_Missense_Mutation_p.L52I	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	52	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86280054	86280054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86280054C>T	uc002sqs.2	-	16	2657	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	POLR1A_uc010ytb.1_Missense_Mutation_p.G126S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	760					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352157	86352157	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352157A>G	uc002sqw.2	+	10	822	c.756A>G	c.(754-756)CCA>CCG	p.P252P	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	252						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86352159	86352159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86352159A>G	uc002sqw.2	+	10	824	c.758A>G	c.(757-759)GAG>GGG	p.E253G	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	253						mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
CD8B	926	broad.mit.edu	37	2	87042828	87042828	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87042828C>A	uc002srw.2	-	6	684	c.634G>T	c.(634-636)GGT>TGT	p.G212C	RMND5A_uc002srs.3_Intron|CD8B_uc002srx.2_3'UTR|CD8B_uc002sry.2_Missense_Mutation_p.G182C|CD8B_uc010fgt.2_Missense_Mutation_p.K169N	NM_172213	NP_757362	P10966	CD8B_HUMAN	CD8b antigen isoform 2 precursor	Error:Variant_position_missing_in_P10966_after_alignment					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			upper_aerodigestive_tract(1)|skin(1)	2																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88384012	88384012	+	Splice_Site	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88384012G>C	uc002ssr.2	+	2	316	c.314_splice	c.e2+1	p.R105_splice	SMYD1_uc002ssq.1_Intron	NM_198274	NP_938015			SET and MYND domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88390634	88390634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88390634A>G	uc002ssr.2	+	4	634	c.632A>G	c.(631-633)AAC>AGC	p.N211S	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425860	88425860	+	Silent	SNP	C	T	T	rs145520267	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88425860C>T	uc002sst.1	-	2	117	c.75G>A	c.(73-75)CCG>CCA	p.P25P	FABP1_uc002ssu.2_Silent_p.P25P	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	25					organ morphogenesis						0																		---	---	---	---
C2orf51	200523	broad.mit.edu	37	2	88828944	88828944	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88828944G>T	uc002stb.1	+	4	637	c.495G>T	c.(493-495)AAG>AAT	p.K165N		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	165						nucleus				skin(1)	1																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874529	88874529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88874529A>G	uc002stc.3	-	13	2674	c.2472T>C	c.(2470-2472)ACT>ACC	p.T824T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	824	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88885468	88885468	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88885468T>A	uc002stc.3	-	9	1743	c.1541A>T	c.(1540-1542)GAT>GTT	p.D514V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	514	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88887627	88887627	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88887627A>C	uc002stc.3	-							NM_004836	NP_004827			eukaryotic translation initiation factor 2-alpha						activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89156937	89156937	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89156937G>A	uc010ytr.1	-	243		c.9988C>T			uc002sti.1_RNA|uc002stj.1_RNA					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89309537	89309537	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89309537C>T	uc010ytr.1	-	74		c.6810G>A			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89326709C>A	uc010ytr.1	-	68		c.6469G>T			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	90199033	90199033	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90199033C>T	uc010fhm.2	+	24		c.3164C>T								Parts of antibodies, mostly variable regions.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	90199197	90199197	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90199197G>T	uc010fhm.2	+	24		c.3326_splice	c.e24+2							Parts of antibodies, mostly variable regions.																														---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95753091	95753091	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95753091G>T	uc002sub.2	-	12					MRPS5_uc002suc.2_RNA	NM_031902	NP_114108			mitochondrial ribosomal protein S5						translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818505	95818505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818505A>G	uc002sue.1	-	4	505	c.131T>C	c.(130-132)GTA>GCA	p.V44A	ZNF514_uc002sud.1_Missense_Mutation_p.V117A	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95818523	95818523	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95818523A>G	uc002sue.1	-						ZNF514_uc002sud.1_Intron	NM_032788	NP_116177			zinc finger protein 514						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF2	7549	broad.mit.edu	37	2	95847534	95847534	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95847534A>G	uc002suf.2	+	6	1420	c.958A>G	c.(958-960)AAA>GAA	p.K320E	ZNF2_uc002sug.2_Missense_Mutation_p.K278E|ZNF2_uc010yue.1_Missense_Mutation_p.K283E|ZNF2_uc010fhs.2_Missense_Mutation_p.K241E	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	320	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)														---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95947020	95947020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95947020A>G	uc002suh.1	+	12	1591	c.1458A>G	c.(1456-1458)GCA>GCG	p.A486A	PROM2_uc002sui.2_Silent_p.A486A|PROM2_uc002suj.2_Silent_p.A140A|PROM2_uc002suk.2_Silent_p.A486A|PROM2_uc002sul.2_Silent_p.A12A|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	486	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1																		---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781266	96781266	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96781266C>A	uc002svi.2	-	1	623	c.623G>T	c.(622-624)AGG>ATG	p.R208M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	208	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96920595	96920595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96920595A>G	uc002svq.2	-	3	642	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	TMEM127_uc002svr.2_Missense_Mutation_p.Y129H	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	129					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0														Pheochromocytoma_(Adrenal)_Familial				---	---	---	---
LMAN2L	81562	broad.mit.edu	37	2	97377612	97377612	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97377612T>A	uc002swu.2	-	5	694	c.658A>T	c.(658-660)AGG>TGG	p.R220W	LMAN2L_uc002swv.2_Missense_Mutation_p.R231W|LMAN2L_uc010yut.1_Missense_Mutation_p.R86W|LMAN2L_uc010yuu.1_Missense_Mutation_p.R84W|LMAN2L_uc010yuv.1_Missense_Mutation_p.R73W|LMAN2L_uc010yuw.1_Missense_Mutation_p.R75W|LMAN2L_uc002sww.2_Missense_Mutation_p.R73W|LMAN2L_uc010yux.1_Missense_Mutation_p.R75W	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	220	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97490873	97490873	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97490873T>A	uc002swy.2	+	2	1328	c.1304T>A	c.(1303-1305)GTC>GAC	p.V435D	CNNM3_uc002swz.2_Intron	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	435	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97493602	97493602	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97493602A>G	uc002swy.2	+	4	1678	c.1654A>G	c.(1654-1656)AGC>GGC	p.S552G	CNNM3_uc002swz.2_Missense_Mutation_p.S504G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	552					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97527061	97527061	+	Missense_Mutation	SNP	A	T	T	rs142553481	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97527061A>T	uc002sxh.3	-	15	1964	c.1804T>A	c.(1804-1806)TCC>ACC	p.S602T	SEMA4C_uc002sxf.3_Missense_Mutation_p.S102T|SEMA4C_uc002sxe.2_Missense_Mutation_p.S143T|SEMA4C_uc002sxg.3_Missense_Mutation_p.S655T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	602	Extracellular (Potential).|Ig-like C2-type.			S -> T (in Ref. 1; AAQ89201).	muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98162180	98162180	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98162180A>G	uc010yvc.1	-	24	1910	c.1630T>C	c.(1630-1632)TCT>CCT	p.S544P		NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	544											0																		---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98175328	98175328	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98175328T>C	uc010yvc.1	-	10	1181	c.901A>G	c.(901-903)AGT>GGT	p.S301G	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	301											0																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275349	98275349	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275349G>T	uc002syb.2	-	5	641	c.433C>A	c.(433-435)CTC>ATC	p.L145I		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	145						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275934	98275934	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98275934G>A	uc002syb.2	-	4	404	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	66						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99778419	99778419	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99778419G>A	uc002szm.3	+	4	340	c.0_splice	c.e4-1		MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Splice_Site|LIPT1_uc002szo.3_Splice_Site|LIPT1_uc002szp.3_Splice_Site|LIPT1_uc002szq.3_Splice_Site|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199			lipoyltransferase 1 precursor						lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)													---	---	---	---
LYG1	129530	broad.mit.edu	37	2	99908989	99908989	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99908989T>C	uc002szy.2	-						MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Intron	NM_174898	NP_777558			lysozyme g-like protein 1 precursor						cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0																		---	---	---	---
TXNDC9	10190	broad.mit.edu	37	2	99944055	99944055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99944055T>C	uc002szz.2	-	3	442	c.251A>G	c.(250-252)CAA>CGA	p.Q84R	TXNDC9_uc010yvp.1_Missense_Mutation_p.Q101R|TXNDC9_uc002taa.1_Missense_Mutation_p.Q84R	NM_005783	NP_005774	O14530	TXND9_HUMAN	thioredoxin domain containing 9	84	Thioredoxin.				cell redox homeostasis		protein binding				0																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101584868	101584868	+	Missense_Mutation	SNP	G	A	A	rs143509936		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101584868G>A	uc002tap.1	+	11	1319	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M	NPAS2_uc010yvt.1_Missense_Mutation_p.V410M	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	345	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101591290	101591290	+	Missense_Mutation	SNP	G	A	A	rs77601858	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101591290G>A	uc002tap.1	+	13	1452	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	NPAS2_uc010yvt.1_Missense_Mutation_p.R454Q|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	389					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102490623	102490623	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102490623T>A	uc002tbg.2	+	23	2770	c.2715T>A	c.(2713-2715)AAT>AAA	p.N905K	MAP4K4_uc002tbc.2_Missense_Mutation_p.N986K|MAP4K4_uc002tbd.2_Missense_Mutation_p.N878K|MAP4K4_uc002tbe.2_Missense_Mutation_p.N824K|MAP4K4_uc002tbf.2_Missense_Mutation_p.N939K|MAP4K4_uc010yvy.1_Missense_Mutation_p.N901K|MAP4K4_uc002tbh.2_Missense_Mutation_p.N823K|MAP4K4_uc002tbi.2_Missense_Mutation_p.N708K|MAP4K4_uc010yvz.1_Missense_Mutation_p.N945K|MAP4K4_uc002tbk.2_Missense_Mutation_p.N360K|MAP4K4_uc002tbl.2_Missense_Mutation_p.N91K	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	905	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842390	102842390	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102842390C>A	uc002tbs.2	+	9	1150	c.1024C>A	c.(1024-1026)CTT>ATT	p.L342I	IL1RL2_uc002tbt.2_Missense_Mutation_p.L224I	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	342	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102851656	102851656	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102851656A>G	uc002tbs.2	+	11	1723	c.1597A>G	c.(1597-1599)AGA>GGA	p.R533G	IL1RL2_uc002tbt.2_Missense_Mutation_p.R415G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	533	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102955465	102955465	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102955465C>T	uc002tbu.1	+	3	501	c.230C>T	c.(229-231)GCT>GTT	p.A77V	IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.A77V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	77	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	103010928	103010928	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103010928G>A	uc002tbw.3	+	10	1262	c.1112_splice	c.e10-1	p.D371_splice	IL18R1_uc010ywc.1_Splice_Site_p.D370_splice|IL18R1_uc010ywd.1_Splice_Site_p.D215_splice|IL18R1_uc010fiy.2_Splice_Site_p.D371_splice	NM_003855	NP_003846			interleukin 18 receptor 1 precursor						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040692	103040692	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103040692A>C	uc002tbx.2	+	5	881	c.397A>C	c.(397-399)AGC>CGC	p.S133R	IL18RAP_uc010fiz.2_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103090419	103090419	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103090419G>A	uc002tbz.3	+	1	658	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	67	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103121821	103121821	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103121821G>C	uc002tbz.3	+	4	1546	c.1089G>C	c.(1087-1089)GAG>GAC	p.E363D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	363	Helical; Name=J/M8; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103130670	103130670	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103130670A>G	uc002tbz.3	+	8	2138	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	561	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106690348	106690348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106690348T>C	uc010fjf.2	+	3	242	c.134T>C	c.(133-135)GTT>GCT	p.V45A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	45						extracellular region|transport vesicle					0																		---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106694242	106694242	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106694242T>G	uc010fjf.2	+	4	415	c.307T>G	c.(307-309)TAT>GAT	p.Y103D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	103						extracellular region|transport vesicle					0																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109371632	109371632	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109371632T>A	uc002tem.3	+	17	2509	c.2383T>A	c.(2383-2385)TAT>AAT	p.Y795N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	795					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109379876	109379876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109379876T>C	uc002tem.3	+	20	3007	c.2881T>C	c.(2881-2883)TAC>CAC	p.Y961H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380767	109380767	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380767G>A	uc002tem.3	+	20	3898	c.3772G>A	c.(3772-3774)GCT>ACT	p.A1258T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1258	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380996	109380996	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109380996T>C	uc002tem.3	+	20	4127	c.4001T>C	c.(4000-4002)ATT>ACT	p.I1334T		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1334					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109399324	109399324	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109399324T>C	uc002tem.3	+							NM_006267	NP_006258			RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109526978	109526978	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109526978C>T	uc002teq.3	-	9	1172	c.741G>A	c.(739-741)GTG>GTA	p.V247V	EDAR_uc010fjn.2_Silent_p.V279V|EDAR_uc010yws.1_Silent_p.V279V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	247	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ANKRD57	65124	broad.mit.edu	37	2	110373498	110373498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:110373498A>G	uc002tfb.2	+	1	1588	c.1432A>G	c.(1432-1434)AGA>GGA	p.R478G	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	478											0																		---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111551648	111551648	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111551648T>C	uc002tgr.3	+						ACOXL_uc010fkc.2_Intron|ACOXL_uc010yxk.1_Intron	NM_001105516	NP_001098986			acyl-Coenzyme A oxidase-like 2						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112751930	112751930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112751930G>A	uc002thk.1	+	9	1521	c.1399G>A	c.(1399-1401)GGG>AGG	p.G467R	MERTK_uc002thl.1_Missense_Mutation_p.G291R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	467	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113089388	113089388	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113089388C>G	uc002thq.1	+	12	3287	c.2893C>G	c.(2893-2895)CTA>GTA	p.L965V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	965							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113090015	113090015	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113090015C>T	uc002thq.1	+	12	3914	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	1174							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
TTL	150465	broad.mit.edu	37	2	113243546	113243546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113243546A>G	uc002thu.2	+	2	389	c.210A>G	c.(208-210)AAA>AAG	p.K70K		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	70	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)				T	ETV6	ALL								---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113332742	113332742	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113332742A>G	uc002thw.2	+	15	3424	c.2844A>G	c.(2842-2844)ACA>ACG	p.T948T	POLR1B_uc010fkn.2_Silent_p.T892T|POLR1B_uc002thx.2_Silent_p.T809T|POLR1B_uc010fko.2_Silent_p.T765T|POLR1B_uc010fkp.2_Silent_p.T387T|POLR1B_uc010yxn.1_Silent_p.T986T|POLR1B_uc002thy.2_Silent_p.T809T|POLR1B_uc010yxo.1_Silent_p.T725T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	948					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113498582	113498582	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113498582T>A	uc002tie.2	-	8	1904	c.1825A>T	c.(1825-1827)ATT>TTT	p.I609F	CKAP2L_uc002tif.2_Missense_Mutation_p.I198F|CKAP2L_uc010yxp.1_Missense_Mutation_p.I444F|uc002tid.2_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	609						centrosome					0																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113513703	113513703	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113513703T>C	uc002tie.2	-	4	1324	c.1245A>G	c.(1243-1245)GCA>GCG	p.A415A	CKAP2L_uc002tif.2_Silent_p.A4A|CKAP2L_uc010yxp.1_Silent_p.A250A|CKAP2L_uc010yxq.1_Silent_p.A250A	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	415						centrosome					0																		---	---	---	---
CBWD2	150472	broad.mit.edu	37	2	114195463	114195463	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114195463A>T	uc002tju.2	+	1	196	c.18A>T	c.(16-18)GGA>GGT	p.G6G	CBWD2_uc002tjt.2_Silent_p.G6G|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	6							ATP binding|protein binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257141	114257141	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257141G>A	uc002tjw.3	+	1	481	c.308G>A	c.(307-309)CGG>CAG	p.R103Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	103					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257269	114257269	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257269C>T	uc002tjw.3	+	1	609	c.436C>T	c.(436-438)CGC>TGC	p.R146C		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257505	114257505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257505C>T	uc002tjw.3	+	1	845	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	224	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257596	114257596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257596G>A	uc002tjw.3	+	1	936	c.763G>A	c.(763-765)GGG>AGG	p.G255R		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	255	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257625	114257625	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257625G>A	uc002tjw.3	+	1	965	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	264	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114480774A>G	uc002tku.1	-						SLC35F5_uc002tkt.2_Intron	NM_025181	NP_079457			solute carrier family 35, member F5						transport	integral to membrane					0																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118586952	118586952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118586952T>A	uc002tlh.1	+	13	1879	c.1780T>A	c.(1780-1782)TCT>ACT	p.S594T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	594							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118588280	118588280	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118588280A>G	uc002tlh.1	+	14	2092	c.1993A>G	c.(1993-1995)AGC>GGC	p.S665G		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	665							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118766233	118766233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118766233A>G	uc002tlj.2	-	2	170	c.44T>C	c.(43-45)GTG>GCG	p.V15A	CCDC93_uc010fld.1_Missense_Mutation_p.V15A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	15										large_intestine(1)|ovary(1)	2																OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118854319	118854319	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120012365	120012365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120012365G>A	uc002tlp.2	+	5	1283	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	STEAP3_uc002tlq.2_Missense_Mutation_p.V386M|STEAP3_uc002tlr.2_Missense_Mutation_p.V376M|STEAP3_uc010fle.2_Missense_Mutation_p.V376M	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	376	Ferric oxidoreductase.|Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
TMEM37	140738	broad.mit.edu	37	2	120194588	120194588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120194588C>T	uc002tly.2	+	2	179	c.145C>T	c.(145-147)CAC>TAC	p.H49Y		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	49						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1																		---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121104185	121104185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121104185T>C	uc002tmn.2	+	1	467	c.421T>C	c.(421-423)TCC>CCC	p.S141P		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	141					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106966	121106966	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106966A>G	uc002tmn.2	+	2	786	c.740A>G	c.(739-741)AAC>AGC	p.N247S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	247					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121712859	121712859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121712859C>T	uc010flp.2	+	4	526	c.496C>T	c.(496-498)CTT>TTT	p.L166F	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.L41F|GLI2_uc002tmw.1_Missense_Mutation_p.L166F	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	166					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122215273	122215273	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122215273C>T	uc002tnc.2	-	14	1765	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A459T|CLASP1_uc010yza.1_Missense_Mutation_p.A459T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A459T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	459	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367380	125367380	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367380A>T	uc002tno.2	+	12	2120	c.1756A>T	c.(1756-1758)ATC>TTC	p.I586F	CNTNAP5_uc010flu.2_Missense_Mutation_p.I587F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367427	125367427	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125367427C>T	uc002tno.2	+	12	2167	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	CNTNAP5_uc010flu.2_Silent_p.A602A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	601	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530570	125530570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125530570C>T	uc002tno.2	+	17	3089	c.2725C>T	c.(2725-2727)CAG>TAG	p.Q909*	CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Q910*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	909	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128253655	128253655	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128253655C>G	uc002ton.2	-	7	1938	c.1635G>C	c.(1633-1635)CGG>CGC	p.R545R	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	545					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128263102	128263102	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128263102C>A	uc002ton.2	-	3	680	c.377G>T	c.(376-378)AGG>ATG	p.R126M	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	126	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
LIMS2	55679	broad.mit.edu	37	2	128412420	128412420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128412420C>T	uc002tpa.2	-	3	388	c.222G>A	c.(220-222)CCG>CCA	p.P74P	LIMS2_uc002tox.2_Silent_p.P98P|LIMS2_uc010fmb.2_Translation_Start_Site|LIMS2_uc002toy.2_Silent_p.P69P|LIMS2_uc010yzm.1_Silent_p.P96P|LIMS2_uc002toz.2_Silent_p.P69P|LIMS2_uc002tpb.2_Silent_p.P69P	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	74	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)														---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471327	128471327	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128471327C>T	uc002tpg.1	-	18	3321	c.3138G>A	c.(3136-3138)AGG>AGA	p.R1046R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1046					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128767876G>A	uc002tpp.2	-	7	1046	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128930248	128930248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128930248T>C	uc002tps.2	+	29	3384	c.3206T>C	c.(3205-3207)CTG>CCG	p.L1069P	UGGT1_uc002tpr.2_Missense_Mutation_p.L1045P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1069					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128931343	128931343	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128931343T>C	uc002tps.2	+						UGGT1_uc002tpr.2_Intron	NM_020120	NP_064505			UDP-glucose ceramide glucosyltransferase-like 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130918776	130918776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130918776C>T	uc002tqq.1	-	11	1571	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T	SMPD4_uc002tqp.1_Missense_Mutation_p.A44T|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.A219T|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Silent_p.R64R|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	312					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)													---	---	---	---
FAM123C	205147	broad.mit.edu	37	2	131520350	131520350	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131520350T>G	uc002trw.2	+	2	895	c.705T>G	c.(703-705)TGT>TGG	p.C235W	FAM123C_uc010fmv.2_Missense_Mutation_p.C235W|FAM123C_uc010fms.1_Missense_Mutation_p.C235W|FAM123C_uc010fmt.1_Missense_Mutation_p.C235W|FAM123C_uc010fmu.1_Missense_Mutation_p.C235W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	235										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131704079	131704079	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131704079C>T	uc002tsa.1	+						ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Intron|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002trz.1_Intron	NM_015320	NP_056135			Rho guanine nucleotide exchange factor 4 isoform						apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)														---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021731	132021731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132021731C>T	uc002tsn.2	+	15	2755	c.2703C>T	c.(2701-2703)ACC>ACT	p.T901T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T501T|POTEE_uc002tsl.2_Silent_p.T483T|POTEE_uc010fmy.1_Silent_p.T365T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	901	Actin-like.						ATP binding				0																		---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133174728	133174728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133174728T>C	uc002ttl.2	+	1	582	c.113T>C	c.(112-114)CTG>CCG	p.L38P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	38	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0																		---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135095865	135095865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135095865T>C	uc002ttv.1	+	6	826	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135711759	135711759	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135711759G>A	uc002tuc.1	+	9	1766	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CCNT2_uc002tub.1_Silent_p.S578S|CCNT2_uc010zbf.1_Silent_p.S403S|CCNT2_uc002tud.1_Silent_p.S241S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	578					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135884141	135884141	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135884141T>C	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136389319	136389319	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136389319G>T	uc002tuo.2	+	8	899	c.529G>T	c.(529-531)GAA>TAA	p.E177*	R3HDM1_uc010fni.2_Nonsense_Mutation_p.E175*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E121*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E9*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	177	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136396677	136396677	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136396677A>G	uc002tuo.2	+	14	1574	c.1204A>G	c.(1204-1206)AGG>GGG	p.R402G	R3HDM1_uc010fni.2_Missense_Mutation_p.R400G|R3HDM1_uc002tup.2_Missense_Mutation_p.R346G|R3HDM1_uc010zbh.1_Missense_Mutation_p.R234G	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	402							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136437848	136437848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136437848C>T	uc002tuo.2	+	20	2678	c.2308C>T	c.(2308-2310)CCT>TCT	p.P770S	R3HDM1_uc010fni.2_Missense_Mutation_p.P769S|R3HDM1_uc002tup.2_Missense_Mutation_p.P715S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P518S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---
DARS	1615	broad.mit.edu	37	2	136664919	136664919	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136664919C>A	uc002tux.1	-	16	1657	c.1473G>T	c.(1471-1473)ATG>ATT	p.M491I	DARS_uc010fnj.1_Missense_Mutation_p.M391I	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	491					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)													---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138400209	138400209	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138400209T>C	uc002tva.1	+						THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139308136	139308136	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139308136T>C	uc002tvh.2	+	3	562	c.162T>C	c.(160-162)AGT>AGC	p.S54S		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	54	MATH.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)														---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429149	139429149	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139429149G>A	uc002tvi.2	-	2	138	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	46	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990805	140990805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:140990805C>A	uc002tvj.1	-	91	14722	c.13750G>T	c.(13750-13752)GAA>TAA	p.E4584*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4584	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665468	141665468	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141665468G>A	uc002tvj.1	-	22	4470	c.3498C>T	c.(3496-3498)GGC>GGT	p.G1166G	LRP1B_uc010fnl.1_Silent_p.G348G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1166	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144244959	144244959	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144244959A>T	uc002tvm.3	+	9	872	c.721A>T	c.(721-723)AGT>TGT	p.S241C	ARHGAP15_uc002tvn.2_Missense_Mutation_p.S7C	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	241					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156756	145156756	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145156756G>A	uc002tvu.2	-	8	2478	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	ZEB2_uc002tvv.2_Silent_p.N660N|ZEB2_uc010zbm.1_Silent_p.N637N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N695N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	666	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157213	145157213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157213G>A	uc002tvu.2	-	8	2021	c.1541C>T	c.(1540-1542)CCG>CTG	p.P514L	ZEB2_uc002tvv.2_Missense_Mutation_p.P508L|ZEB2_uc010zbm.1_Missense_Mutation_p.P485L|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P543L	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	514						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148695720	148695720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148695720T>C	uc002twi.2	-	13	1252	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V	ORC4L_uc002twj.2_Missense_Mutation_p.M373V|ORC4L_uc010zbo.1_Missense_Mutation_p.M299V|ORC4L_uc010zbp.1_Missense_Mutation_p.M156V|ORC4L_uc010fnr.2_Intron|ORC4L_uc010zbq.1_Missense_Mutation_p.M289V|ORC4L_uc002twk.2_Missense_Mutation_p.M373V|ORC4L_uc002twl.1_5'Flank	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	373					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247137	149247137	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247137C>T	uc002twm.3	+	12	4225	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1079G|MBD5_uc002two.2_Silent_p.G337G|MBD5_uc002twp.2_Silent_p.G129G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1079						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247533	149247533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247533G>A	uc002twm.3	+	12	4621	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.K1211K|MBD5_uc002two.2_Silent_p.K469K|MBD5_uc002twp.2_Silent_p.K261K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
RND3	390	broad.mit.edu	37	2	151326555	151326555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:151326555C>T	uc002txe.2	-	5	925	c.681G>A	c.(679-681)TCG>TCA	p.S227S	RND3_uc002txf.2_Silent_p.S226S|RND3_uc002txg.2_Silent_p.S227S|RND3_uc010zbv.1_Missense_Mutation_p.R110Q|RND3_uc010zbw.1_Silent_p.S90S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	227					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152330503	152330503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152330503T>C	uc002txm.2	+	35	7251	c.7121T>C	c.(7120-7122)ATT>ACT	p.I2374T	RIF1_uc002txl.2_Missense_Mutation_p.I2348T|RIF1_uc002txn.2_Missense_Mutation_p.I2348T|RIF1_uc002txo.2_Missense_Mutation_p.I2348T|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2374	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152342334	152342334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152342334G>A	uc010fnx.2	-	149	20141	c.19950C>T	c.(19948-19950)GGC>GGT	p.G6650G	NEB_uc002txr.2_Silent_p.G2980G|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.G419G|NEB_uc002txq.2_Silent_p.G529G|NEB_uc010zca.1_Silent_p.G481G|NEB_uc010zcb.1_Silent_p.G419G	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6650	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152381673	152381673	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152381673T>G	uc010fnx.2	-						NEB_uc002txr.2_Intron|NEB_uc002txt.3_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152382735	152382735	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152382735G>A	uc010fnx.2	-	121	17075	c.16884C>T	c.(16882-16884)TGC>TGT	p.C5628C	NEB_uc002txr.2_Silent_p.C2051C|NEB_uc002txt.3_Silent_p.C133C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5628	Nebulin 154.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152410411	152410411	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152410411G>A	uc010fnx.2	-	98	14645	c.14454C>T	c.(14452-14454)CAC>CAT	p.H4818H	NEB_uc002txr.2_Silent_p.H1241H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4818	Nebulin 131.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152472522	152472522	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152472522A>G	uc010fnx.2	-	72	10745	c.10554T>C	c.(10552-10554)GCT>GCC	p.A3518A		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3518	Nebulin 96.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496986	152496986	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496986C>G	uc010fnx.2	-	61	8759	c.8568G>C	c.(8566-8568)AAG>AAC	p.K2856N	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2856	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152496994	152496994	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152496994G>A	uc010fnx.2	-	61	8751	c.8560C>T	c.(8560-8562)CTG>TTG	p.L2854L	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2854	Nebulin 77.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152497096	152497096	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152497096A>T	uc010fnx.2	-	61	8649	c.8458T>A	c.(8458-8460)TCC>ACC	p.S2820T	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2820	Nebulin 76.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152506866	152506866	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152506866G>T	uc010fnx.2	-	54	7446	c.7255C>A	c.(7255-7257)CTG>ATG	p.L2419M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2419					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522819	152522819	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522819C>T	uc010fnx.2	-	41	5007	c.4816G>A	c.(4816-4818)GCC>ACC	p.A1606T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1606	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522861	152522861	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152522861T>C	uc010fnx.2	-	41	4965	c.4774A>G	c.(4774-4776)AGT>GGT	p.S1592G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1592	Nebulin 41.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152536326	152536326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152536326T>C	uc010fnx.2	-	32	3355	c.3164A>G	c.(3163-3165)GAC>GGC	p.D1055G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1055	Nebulin 25.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
ARL5A	26225	broad.mit.edu	37	2	152670830	152670830	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152670830A>G	uc002txx.1	-	3	427	c.108T>C	c.(106-108)TTT>TTC	p.F36F	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_5'UTR|ARL5A_uc002txw.1_5'UTR	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	36					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)														---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153378496	153378496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153378496C>T	uc002tye.2	+	2	524	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	53	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153475388	153475388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153475388T>C	uc002tye.2	+	14	1710	c.1343T>C	c.(1342-1344)GTT>GCT	p.V448A	FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	448	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334890	154334890	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154334890C>T	uc002tyq.1	-	1	433	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	64	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0																		---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186496	157186496	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157186496C>A	uc002tyz.3	-	3	625	c.203G>T	c.(202-204)AGC>ATC	p.S68I	NR4A2_uc002tyx.3_Missense_Mutation_p.S5I|NR4A2_uc010zcf.1_Missense_Mutation_p.S68I|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	68					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157369851	157369851	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157369851G>A	uc002tzf.3	+	6	864	c.504G>A	c.(502-504)TGG>TGA	p.W168*	GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Nonsense_Mutation_p.W168*|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	168					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157425912	157425912	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157425912T>A	uc002tzf.3	+	11	1698	c.1338T>A	c.(1336-1338)GAT>GAA	p.D446E	GPD2_uc010zch.1_Missense_Mutation_p.D219E|GPD2_uc002tzd.3_Missense_Mutation_p.D446E|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	446					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406865	158406865	+	Missense_Mutation	SNP	A	G	G	rs56188432	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158406865A>G	uc002tzk.3	-	4	827	c.584T>C	c.(583-585)ATT>ACT	p.I195T	ACVR1C_uc002tzl.3_Missense_Mutation_p.I115T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I145T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	195	Protein kinase.|Cytoplasmic (Potential).		I -> T.		apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7																		---	---	---	---
UPP2	151531	broad.mit.edu	37	2	158971666	158971666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158971666G>A	uc002tzp.2	+	3	428	c.234G>A	c.(232-234)ATG>ATA	p.M78I	UPP2_uc002tzo.2_Missense_Mutation_p.M135I	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	78					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0																		---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159195339	159195339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159195339G>A	uc002tzq.2	-	7	926	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y	CCDC148_uc002tzr.2_Silent_p.Y69Y|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Silent_p.Y168Y|CCDC148_uc010foj.1_Silent_p.Y69Y|CCDC148_uc010fok.1_Silent_p.Y135Y|CCDC148_uc002tzs.1_Silent_p.Y221Y	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	221										ovary(2)	2																		---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159517928	159517928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159517928A>G	uc002tzv.2	+	13	2437	c.2177A>G	c.(2176-2178)CAC>CGC	p.H726R	PKP4_uc002tzt.1_Missense_Mutation_p.H578R|PKP4_uc002tzu.2_Missense_Mutation_p.H726R|PKP4_uc002tzw.2_Missense_Mutation_p.H726R|PKP4_uc002tzx.2_Missense_Mutation_p.H383R|PKP4_uc002tzy.1_Missense_Mutation_p.H384R|PKP4_uc002uaa.2_Missense_Mutation_p.H578R|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	726	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
DAPL1	92196	broad.mit.edu	37	2	159660836	159660836	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159660836G>A	uc002uaf.2	+	2	157	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	34					apoptosis|cell differentiation						0																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035681	160035681	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160035681C>T	uc002uag.2	+						TANC1_uc010zcm.1_Intron|TANC1_uc010fom.1_Intron|TANC1_uc002uai.1_RNA	NM_033394	NP_203752			tetratricopeptide repeat, ankyrin repeat and							cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050845	160050845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050845C>T	uc002uag.2	+	17	3094	c.2820C>T	c.(2818-2820)TGC>TGT	p.C940C	TANC1_uc010zcm.1_Silent_p.C932C|TANC1_uc010fom.1_Silent_p.C746C	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	940	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160050927	160050927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160050927G>A	uc002uag.2	+	17	3176	c.2902G>A	c.(2902-2904)GGC>AGC	p.G968S	TANC1_uc010zcm.1_Missense_Mutation_p.G960S|TANC1_uc010fom.1_Missense_Mutation_p.G774S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	968	ANK 3.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289417	160289417	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160289417G>A	uc002uao.2	-	9	2103	c.1751C>T	c.(1750-1752)GCA>GTA	p.A584V	BAZ2B_uc002uap.2_Missense_Mutation_p.A582V|BAZ2B_uc002uas.1_Missense_Mutation_p.A521V|BAZ2B_uc002uaq.1_Missense_Mutation_p.A512V|BAZ2B_uc002uar.1_Missense_Mutation_p.A157V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	160983118	160983118	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160983118A>G	uc002ubh.2	-						ITGB6_uc010fou.2_Intron|ITGB6_uc010zcq.1_Intron|ITGB6_uc010fov.1_Intron	NM_000888	NP_000879			integrin, beta 6 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161029176	161029176	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161029176A>G	uc002ubh.2	-	6	841	c.825T>C	c.(823-825)CAT>CAC	p.H275H	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	275	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
TANK	10010	broad.mit.edu	37	2	162087958	162087958	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162087958G>A	uc002ubr.1	+	7	1155	c.997G>A	c.(997-999)GAC>AAC	p.D333N	TANK_uc002ubs.2_Missense_Mutation_p.D333N	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	333						cytosol	metal ion binding|protein binding			ovary(1)	1																		---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162279997	162279997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162279997C>T	uc002ubw.1	+	6	1610	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TBR1_uc010foy.2_Silent_p.F149F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162661031G>A	uc002ubx.3	+	3	387	c.203G>A	c.(202-204)CGT>CAT	p.R68H	SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	68	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162875293	162875293	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162875293A>G	uc002ubz.2	-	16	1927	c.1366T>C	c.(1366-1368)TAC>CAC	p.Y456H	DPP4_uc010fpb.2_Missense_Mutation_p.Y132H	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	456	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059659	163059659	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163059659A>G	uc002ucd.2	-						FAP_uc010zct.1_Intron|FAP_uc010fpd.2_Intron	NM_004460	NP_004451			fibroblast activation protein, alpha subunit						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256819	163256819	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163256819T>C	uc002uch.1	-	10	2499	c.2287A>G	c.(2287-2289)ACC>GCC	p.T763A		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	763	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466724	164466724	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164466724C>T	uc002uck.1	-	3	1929	c.1618G>A	c.(1618-1620)GCT>ACT	p.A540T		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	540						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165550768	165550768	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165550768G>T	uc010zcw.1	-						COBLL1_uc002ucp.2_Intron|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucn.2_Intron|COBLL1_uc002uco.2_Intron	NM_014900	NP_055715			COBL-like 1											ovary(2)|pancreas(1)	3																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551250	165551250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165551250A>G	uc010zcw.1	-	15	3091	c.2967T>C	c.(2965-2967)GCT>GCC	p.A989A	COBLL1_uc002ucp.2_Silent_p.A922A|COBLL1_uc002ucq.2_Silent_p.A884A|COBLL1_uc010zcx.1_Silent_p.A930A|COBLL1_uc002ucn.2_Silent_p.A350A|COBLL1_uc002uco.2_Silent_p.A653A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	960										ovary(2)|pancreas(1)	3																		---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165768194	165768194	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165768194A>G	uc002ucv.1	-	11	1284	c.747T>C	c.(745-747)GGT>GGC	p.G249G	SLC38A11_uc002ucu.1_Silent_p.G227G|SLC38A11_uc002ucw.1_Silent_p.G249G	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	249	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165950924	165950924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165950924A>T	uc002ucx.2	-	26	4988	c.4496T>A	c.(4495-4497)CTT>CAT	p.L1499H	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1450H|SCN3A_uc002ucz.2_Missense_Mutation_p.L1450H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1499						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165997314	165997314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165997314G>A	uc002ucx.2	-	13	2358	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	SCN3A_uc002ucy.2_Silent_p.N622N|SCN3A_uc002ucz.2_Silent_p.N622N|SCN3A_uc002uda.1_Silent_p.N491N|SCN3A_uc002udb.1_Silent_p.N491N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	622						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152539	166152539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166152539T>C	uc002udc.2	+	2	496	c.206T>C	c.(205-207)ATT>ACT	p.I69T	SCN2A_uc002udd.2_Missense_Mutation_p.I69T|SCN2A_uc002ude.2_Missense_Mutation_p.I69T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	69					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166168564	166168564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166168564G>A	uc002udc.2	+	8	1290	c.1000G>A	c.(1000-1002)GAT>AAT	p.D334N	SCN2A_uc002udd.2_Missense_Mutation_p.D334N|SCN2A_uc002ude.2_Missense_Mutation_p.D334N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	334	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166179742	166179742	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166179742G>A	uc002udc.2	+	12	2038	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	SCN2A_uc002udd.2_Missense_Mutation_p.R583Q|SCN2A_uc002ude.2_Missense_Mutation_p.R583Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	583					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166231207	166231207	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166231207G>A	uc002udc.2	+	22	4275	c.3985G>A	c.(3985-3987)GCT>ACT	p.A1329T	SCN2A_uc002udd.2_Missense_Mutation_p.A1329T|SCN2A_uc002ude.2_Missense_Mutation_p.A1329T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1329	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166802129	166802129	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166802129A>C	uc002udk.2	-	4	467	c.334T>G	c.(334-336)TAC>GAC	p.Y112D	TTC21B_uc002udl.2_Missense_Mutation_p.Y112D|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	112	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848920	166848920	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848920G>A	uc010zcz.1	-	26	4850	c.4832C>T	c.(4831-4833)GCC>GTC	p.A1611V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1622	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167133605	167133605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167133605A>T	uc010fpl.2	-	16	3070	c.2729T>A	c.(2728-2730)TTC>TAC	p.F910Y	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	921	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104512	168104512	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104512A>G	uc002udx.2	+	8	6628	c.6610A>G	c.(6610-6612)ATA>GTA	p.I2204V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2029V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1982V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2029					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
STK39	27347	broad.mit.edu	37	2	169018361	169018361	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169018361A>G	uc002uea.2	-							NM_013233	NP_037365			serine threonine kinase 39 (STE20/SPS1 homolog,						response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169313062	169313062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169313062C>T	uc002ueb.1	+	1	228	c.104C>T	c.(103-105)GCT>GTT	p.A35V	LASS6_uc002uec.1_Missense_Mutation_p.A35V	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	35	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169792759	169792759	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169792759G>A	uc002ueo.1	-	22	2921	c.2795C>T	c.(2794-2796)GCC>GTC	p.A932V	ABCB11_uc010zda.1_Missense_Mutation_p.A374V|ABCB11_uc010zdb.1_Missense_Mutation_p.A408V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	932	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169939959	169939959	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169939959C>G	uc002uep.2	+	6	1938	c.434C>G	c.(433-435)ACA>AGA	p.T145R	DHRS9_uc002ueq.2_Missense_Mutation_p.T145R|DHRS9_uc010zdc.1_Missense_Mutation_p.T205R|DHRS9_uc010zdd.1_Missense_Mutation_p.T145R|DHRS9_uc010zde.1_Missense_Mutation_p.T145R	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	145					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169940033	169940033	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169940033G>A	uc002uep.2	+	6	2012	c.508G>A	c.(508-510)GCA>ACA	p.A170T	DHRS9_uc002ueq.2_Missense_Mutation_p.A170T|DHRS9_uc010zdc.1_Missense_Mutation_p.A230T|DHRS9_uc010zdd.1_Missense_Mutation_p.A170T|DHRS9_uc010zde.1_Missense_Mutation_p.A170T	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	170					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012784	170012784	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170012784C>A	uc002ues.2	-	65	12364	c.12151G>T	c.(12151-12153)GGT>TGT	p.G4051C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4051	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170034315	170034315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170034315A>G	uc002ues.2	-	53	10604	c.10391T>C	c.(10390-10392)ATT>ACT	p.I3464T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3464	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170066149G>A	uc002ues.2	-	38	6496	c.6283C>T	c.(6283-6285)CGA>TGA	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2095	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170097855	170097855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170097855A>G	uc002ues.2	-	25	3901	c.3688T>C	c.(3688-3690)TGC>CGC	p.C1230R	LRP2_uc010zdf.1_Missense_Mutation_p.C1093R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1230	Extracellular (Potential).|LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170115570	170115570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170115570A>C	uc002ues.2	-	17	2691	c.2478T>G	c.(2476-2478)AAT>AAG	p.N826K	LRP2_uc010zdf.1_Missense_Mutation_p.N689K	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	826	LDL-receptor class B 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170135946	170135946	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170135946G>A	uc002ues.2	-	12	1714	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	LRP2_uc010zdf.1_Missense_Mutation_p.R501W	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	501	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170936326	170936326	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170936326C>A	uc010zdi.1	+	37	5202	c.5202C>A	c.(5200-5202)GCC>GCA	p.A1734A	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.A555A|UBR3_uc002uft.3_Silent_p.A591A|UBR3_uc010zdj.1_Silent_p.A425A|UBR3_uc002ufu.3_Silent_p.A240A	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1734					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171256774	171256774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171256774A>G	uc002ufy.2	+	17	2011	c.1868A>G	c.(1867-1869)CAA>CGA	p.Q623R	MYO3B_uc002ufv.2_Missense_Mutation_p.Q610R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q610R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q623R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	623	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171906571	171906571	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171906571T>C	uc002ugn.2	-						TLK1_uc002ugo.2_Intron|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_Intron|TLK1_uc010zdn.1_Intron|TLK1_uc002ugr.1_Intron	NM_012290	NP_036422			tousled-like kinase 1 isoform 1						cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
DCAF17	80067	broad.mit.edu	37	2	172330389	172330389	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172330389T>A	uc002ugx.2	+	10	1224	c.995T>A	c.(994-996)ATC>AAC	p.I332N	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Intron|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.I52N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	332						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0																		---	---	---	---
PDK1	5163	broad.mit.edu	37	2	173457701	173457701	+	Silent	SNP	C	T	T	rs138447627		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173457701C>T	uc002uhr.2	+	10	1195	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	PDK1_uc010zdz.1_Silent_p.Y210Y|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.Y385Y|PDK1_uc002uhs.2_Silent_p.Y365Y|PDK1_uc010zeb.1_Silent_p.Y385Y	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	365	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)											Autosomal_Dominant_Polycystic_Kidney_Disease				---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173891823	173891823	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173891823T>A	uc002uhv.3	+	25	2581	c.2394T>A	c.(2392-2394)TAT>TAA	p.Y798*	RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.Y654*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	798	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174130855	174130855	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174130855A>G	uc002uhz.2	+	20	1980	c.1780A>G	c.(1780-1782)AAT>GAT	p.N594D	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	594					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
ZAK	51776	broad.mit.edu	37	2	174131092	174131092	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174131092T>A	uc002uhz.2	+	20	2217	c.2017T>A	c.(2017-2019)TAC>AAC	p.Y673N	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	673					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174229673	174229673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174229673T>C	uc002uid.1	+	5	744	c.613T>C	c.(613-615)TAC>CAC	p.Y205H	CDCA7_uc002uic.1_Missense_Mutation_p.Y284H|CDCA7_uc010zej.1_Missense_Mutation_p.Y240H|CDCA7_uc010zek.1_Missense_Mutation_p.Y163H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	205					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)															---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175246441	175246441	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175246441C>A	uc002uim.2	-	3	325	c.232G>T	c.(232-234)GCT>TCT	p.A78S	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	78	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175676303	175676303	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175676303T>C	uc002uji.2	-	10	1430	c.900A>G	c.(898-900)GAA>GAG	p.E300E	CHN1_uc010zeq.1_Silent_p.E274E|CHN1_uc002ujj.2_Silent_p.E75E|CHN1_uc002ujg.2_Silent_p.E175E	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	300	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
ATP5G3	518	broad.mit.edu	37	2	176046086	176046086	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176046086A>T	uc002ujz.3	-	1	306	c.36T>A	c.(34-36)TCT>TCA	p.S12S	ATP5G3_uc002uka.3_Silent_p.S12S|ATP5G3_uc002ukb.1_Silent_p.S12S	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)															---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995452	176995452	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176995452C>G	uc002uko.2	+	1	976	c.358C>G	c.(358-360)CCA>GCA	p.P120A	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Missense_Mutation_p.P120A	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	120	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---
MTX2	10651	broad.mit.edu	37	2	177202275	177202275	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177202275A>G	uc002ukx.2	+	10	910	c.675A>G	c.(673-675)ACA>ACG	p.T225T	MTX2_uc002ukw.2_Silent_p.T215T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	225					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178415951	178415951	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178415951T>C	uc002uln.2	-	1	1574	c.1541A>G	c.(1540-1542)AAT>AGT	p.N514S	TTC30B_uc010zfc.1_Missense_Mutation_p.N286S	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	514	Potential.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178416839	178416839	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178416839C>T	uc002uln.2	-	1	686	c.653G>A	c.(652-654)GGC>GAC	p.G218D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	218	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)															---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179201135	179201135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179201135G>A	uc002ulx.2	+	9	1143	c.765G>A	c.(763-765)TCG>TCA	p.S255S	OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	255					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)															---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325710	179325710	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179325710T>C	uc002umi.3	+	7	1124	c.768T>C	c.(766-768)AAT>AAC	p.N256N	DFNB59_uc002umj.3_Silent_p.N256N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	256					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
FKBP7	51661	broad.mit.edu	37	2	179334426	179334426	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179334426A>T	uc002umk.2	-	3	589	c.460T>A	c.(460-462)TTT>ATT	p.F154I	FKBP7_uc002umm.2_Missense_Mutation_p.F153I|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	191	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393421	179393421	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179393421A>G	uc010zfg.1	-	309	99577	c.99353T>C	c.(99352-99354)GTC>GCC	p.V33118A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V26813A|TTN_uc010zfi.1_Missense_Mutation_p.V26746A|TTN_uc010zfj.1_Missense_Mutation_p.V26621A|TTN_uc002umq.2_Missense_Mutation_p.V135A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34045							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395728	179395728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179395728T>C	uc010zfg.1	-	307	98134	c.97910A>G	c.(97909-97911)AAC>AGC	p.N32637S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N26332S|TTN_uc010zfi.1_Missense_Mutation_p.N26265S|TTN_uc010zfj.1_Missense_Mutation_p.N26140S|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33564							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402473	179402473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179402473C>T	uc010zfg.1	-	304	91981	c.91757G>A	c.(91756-91758)CGC>CAC	p.R30586H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281H|TTN_uc010zfi.1_Missense_Mutation_p.R24214H|TTN_uc010zfj.1_Missense_Mutation_p.R24089H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404632	179404632	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179404632G>A	uc010zfg.1	-	301	90680	c.90456C>T	c.(90454-90456)GGC>GGT	p.G30152G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G23847G|TTN_uc010zfi.1_Silent_p.G23780G|TTN_uc010zfj.1_Silent_p.G23655G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31079							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179412969	179412969	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179412969G>T	uc010zfg.1	-	288	85904	c.85680C>A	c.(85678-85680)TCC>TCA	p.S28560S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S22255S|TTN_uc010zfi.1_Silent_p.S22188S|TTN_uc010zfj.1_Silent_p.S22063S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29487							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414486	179414486	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414486A>G	uc010zfg.1	-	287	84483	c.84259T>C	c.(84259-84261)TAC>CAC	p.Y28087H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21782H|TTN_uc010zfi.1_Missense_Mutation_p.Y21715H|TTN_uc010zfj.1_Missense_Mutation_p.Y21590H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29014							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414849	179414849	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414849A>G	uc010zfg.1	-	286	84236	c.84012T>C	c.(84010-84012)AAT>AAC	p.N28004N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N21699N|TTN_uc010zfi.1_Silent_p.N21632N|TTN_uc010zfj.1_Silent_p.N21507N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414978	179414978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414978G>A	uc010zfg.1	-	286	84107	c.83883C>T	c.(83881-83883)GGC>GGT	p.G27961G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21656G|TTN_uc010zfi.1_Silent_p.G21589G|TTN_uc010zfj.1_Silent_p.G21464G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179415883	179415883	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179415883T>C	uc010zfg.1	-	285	83895	c.83671A>G	c.(83671-83673)ATT>GTT	p.I27891V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21586V|TTN_uc010zfi.1_Missense_Mutation_p.I21519V|TTN_uc010zfj.1_Missense_Mutation_p.I21394V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417047	179417047	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179417047C>T	uc010zfg.1	-	284	83100	c.82876G>A	c.(82876-82878)GCC>ACC	p.A27626T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21321T|TTN_uc010zfi.1_Missense_Mutation_p.A21254T|TTN_uc010zfj.1_Missense_Mutation_p.A21129T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179418786	179418786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179418786T>C	uc010zfg.1	-	282	81572	c.81348A>G	c.(81346-81348)CTA>CTG	p.L27116L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20811L|TTN_uc010zfi.1_Silent_p.L20744L|TTN_uc010zfj.1_Silent_p.L20619L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28043							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179419597	179419597	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179419597A>T	uc010zfg.1	-	280	81109	c.80885T>A	c.(80884-80886)ATC>AAC	p.I26962N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20657N|TTN_uc010zfi.1_Missense_Mutation_p.I20590N|TTN_uc010zfj.1_Missense_Mutation_p.I20465N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27889							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425685	179425685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179425685C>T	uc010zfg.1	-	275	77694	c.77470G>A	c.(77470-77472)GCC>ACC	p.A25824T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A19519T|TTN_uc010zfi.1_Missense_Mutation_p.A19452T|TTN_uc010zfj.1_Missense_Mutation_p.A19327T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26751							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428522	179428522	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179428522G>T	uc010zfg.1	-	275	74857	c.74633C>A	c.(74632-74634)GCT>GAT	p.A24878D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A18573D|TTN_uc010zfi.1_Missense_Mutation_p.A18506D|TTN_uc010zfj.1_Missense_Mutation_p.A18381D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25805							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179429031	179429031	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179429031A>C	uc010zfg.1	-	275	74348	c.74124T>G	c.(74122-74124)TCT>TCG	p.S24708S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S18403S|TTN_uc010zfi.1_Silent_p.S18336S|TTN_uc010zfj.1_Silent_p.S18211S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179432851	179432851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179432851G>A	uc010zfg.1	-	275	70528	c.70304C>T	c.(70303-70305)TCC>TTC	p.S23435F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S17130F|TTN_uc010zfi.1_Missense_Mutation_p.S17063F|TTN_uc010zfj.1_Missense_Mutation_p.S16938F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24362							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437140	179437140	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437140G>A	uc010zfg.1	-	275	66239	c.66015C>T	c.(66013-66015)TGC>TGT	p.C22005C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C15700C|TTN_uc010zfi.1_Silent_p.C15633C|TTN_uc010zfj.1_Silent_p.C15508C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437289	179437289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437289G>A	uc010zfg.1	-	275	66090	c.65866C>T	c.(65866-65868)CAG>TAG	p.Q21956*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q15651*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q15584*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q15459*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179442036	179442036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179442036T>C	uc010zfg.1	-	273	61546	c.61322A>G	c.(61321-61323)TAT>TGT	p.Y20441C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14136C|TTN_uc010zfi.1_Missense_Mutation_p.Y14069C|TTN_uc010zfj.1_Missense_Mutation_p.Y13944C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21368							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447037	179447037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179447037G>T	uc010zfg.1	-	263	58666	c.58442C>A	c.(58441-58443)GCC>GAC	p.A19481D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13176D|TTN_uc010zfi.1_Missense_Mutation_p.A13109D|TTN_uc010zfj.1_Missense_Mutation_p.A12984D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20408							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456053	179456053	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456053T>C	uc010zfg.1	-	253	52919	c.52695A>G	c.(52693-52695)TCA>TCG	p.S17565S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11260S|TTN_uc010zfi.1_Silent_p.S11193S|TTN_uc010zfj.1_Silent_p.S11068S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18492							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456447	179456447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456447T>C	uc010zfg.1	-	252	52619	c.52395A>G	c.(52393-52395)TTA>TTG	p.L17465L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L11160L|TTN_uc010zfi.1_Silent_p.L11093L|TTN_uc010zfj.1_Silent_p.L10968L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18392							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457902	179457902	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179457902A>G	uc010zfg.1	-	248	51553	c.51329T>C	c.(51328-51330)ATT>ACT	p.I17110T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10805T|TTN_uc010zfi.1_Missense_Mutation_p.I10738T|TTN_uc010zfj.1_Missense_Mutation_p.I10613T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18037							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179462392	179462392	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179462392A>G	uc010zfg.1	-	243	49937	c.49713T>C	c.(49711-49713)ATT>ATC	p.I16571I	uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.I10266I|TTN_uc010zfi.1_Silent_p.I10199I|TTN_uc010zfj.1_Silent_p.I10074I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463262	179463262	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463262T>C	uc010zfg.1	-	241	49602	c.49378A>G	c.(49378-49380)AAA>GAA	p.K16460E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10155E|TTN_uc010zfi.1_Missense_Mutation_p.K10088E|TTN_uc010zfj.1_Missense_Mutation_p.K9963E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17387							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463329	179463329	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179463329T>C	uc010zfg.1	-	241	49535	c.49311A>G	c.(49309-49311)GCA>GCG	p.A16437A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10132A|TTN_uc010zfi.1_Silent_p.A10065A|TTN_uc010zfj.1_Silent_p.A9940A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179464134	179464134	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179464134A>G	uc010zfg.1	-	239	48906	c.48682T>C	c.(48682-48684)TCT>CCT	p.S16228P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9923P|TTN_uc010zfi.1_Missense_Mutation_p.S9856P|TTN_uc010zfj.1_Missense_Mutation_p.S9731P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17155							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495630	179495630	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495630C>A	uc010zfg.1	-	187	36575	c.36351G>T	c.(36349-36351)GAG>GAT	p.E12117D	TTN_uc010zfh.1_Missense_Mutation_p.E5812D|TTN_uc010zfi.1_Missense_Mutation_p.E5745D|TTN_uc010zfj.1_Missense_Mutation_p.E5620D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13044							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495656	179495656	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495656G>A	uc010zfg.1	-	187	36549	c.36325C>T	c.(36325-36327)CTG>TTG	p.L12109L	TTN_uc010zfh.1_Silent_p.L5804L|TTN_uc010zfi.1_Silent_p.L5737L|TTN_uc010zfj.1_Silent_p.L5612L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13036							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179517022	179517022	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179517022A>G	uc010zfg.1	-	157	32102	c.31878T>C	c.(31876-31878)CCT>CCC	p.P10626P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179542934	179542934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179542934C>T	uc010zfg.1	-	142	30404	c.30180G>A	c.(30178-30180)GTG>GTA	p.V10060V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6721V|TTN_uc010fre.1_Silent_p.V717V|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10987							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544994	179544994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179544994T>C	uc010zfg.1	-	136	29897	c.29673A>G	c.(29671-29673)GCA>GCG	p.A9891A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6552A|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10818							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179547450	179547450	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179547450T>G	uc010zfg.1	-	132	29560	c.29336A>C	c.(29335-29337)TAT>TCT	p.Y9779S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y6440S|TTN_uc010fre.1_Missense_Mutation_p.Y626S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10706							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179554557	179554557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179554557T>C	uc010zfg.1	-	119	28321	c.28097A>G	c.(28096-28098)GAA>GGA	p.E9366G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6027G|TTN_uc010fre.1_Missense_Mutation_p.E477G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10293							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179571293	179571293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179571293G>A	uc010zfg.1	-	99	25800	c.25576C>T	c.(25576-25578)CGA>TGA	p.R8526*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5187*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577959	179577959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179577959T>C	uc010zfg.1	-	90	23394	c.23170A>G	c.(23170-23172)AGT>GGT	p.S7724G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4385G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578862	179578862	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578862A>T	uc010zfg.1	-	89	23015	c.22791T>A	c.(22789-22791)GTT>GTA	p.V7597V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4258V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578874	179578874	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179578874T>C	uc010zfg.1	-	89	23003	c.22779A>G	c.(22777-22779)GAA>GAG	p.E7593E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4254E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179589031	179589031	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179589031T>G	uc010zfg.1	-	69	17563	c.17339A>C	c.(17338-17340)AAT>ACT	p.N5780T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2441T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6707							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179592343G>A	uc010zfg.1	-	65	16454	c.16230C>T	c.(16228-16230)AGC>AGT	p.S5410S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2071S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6337							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594254	179594254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594254A>G	uc010zfg.1	-	61	15121	c.14897T>C	c.(14896-14898)GTA>GCA	p.V4966A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1627A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5893							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179595492	179595492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179595492T>C	uc010zfg.1	-	58	14260	c.14036A>G	c.(14035-14037)AAA>AGA	p.K4679R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1340R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597786	179597786	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179597786T>C	uc010zfg.1	-	52	12609	c.12385A>G	c.(12385-12387)ACC>GCC	p.T4129A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T790A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600589	179600589	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179600589T>C	uc010zfg.1	-	47	11076	c.10852A>G	c.(10852-10854)AGA>GGA	p.R3618G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R279G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4545							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604327	179604327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604327T>C	uc010zfh.1	-	46	13344	c.13120A>G	c.(13120-13122)AAA>GAA	p.K4374E	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4307E|TTN_uc010zfj.1_Missense_Mutation_p.K4182E|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610654	179610654	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179610654C>A	uc002unb.2	-	46	16697	c.16473G>T	c.(16471-16473)ATG>ATT	p.M5491I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616245	179616245	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179616245C>A	uc002unb.2	-	46	11106	c.10882G>T	c.(10882-10884)GAA>TAA	p.E3628*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621295	179621295	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179621295T>C	uc010zfh.1	-	44	10619	c.10395A>G	c.(10393-10395)GCA>GCG	p.A3465A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179639941	179639941	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179639941A>G	uc010zfg.1	-						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron|uc002unc.1_5'Flank	NM_133378	NP_596869			titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642221	179642221	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179642221T>A	uc010zfg.1	-	26	4795	c.4571A>T	c.(4570-4572)GAT>GTT	p.D1524V	TTN_uc010zfh.1_Missense_Mutation_p.D1478V|TTN_uc010zfi.1_Missense_Mutation_p.D1478V|TTN_uc010zfj.1_Missense_Mutation_p.D1478V|TTN_uc002unb.2_Missense_Mutation_p.D1524V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179710393	179710393	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179710393G>C	uc002unf.1	-	12	1766	c.1709C>G	c.(1708-1710)GCA>GGA	p.A570G	CCDC141_uc002une.1_Missense_Mutation_p.A20G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	570							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730575	179730575	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179730575C>T	uc002unf.1	-	7	975	c.918G>A	c.(916-918)AAG>AAA	p.K306K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	306	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179982318	179982318	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815294	180815294	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180815294C>A	uc010frh.1	-	19	2385	c.2085G>T	c.(2083-2085)GAG>GAT	p.E695D	CWC22_uc002uno.2_Missense_Mutation_p.E217D|CWC22_uc002unp.2_Missense_Mutation_p.E695D	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	695	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182394352	182394352	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182394352C>T	uc002unu.2	+	23	3278	c.2515C>T	c.(2515-2517)CTG>TTG	p.L839L	ITGA4_uc002unv.2_Silent_p.L84L	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	839	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)													---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182412405	182412405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182412405C>T	uc002unx.2	-	11	1387	c.1286G>A	c.(1285-1287)AGC>AAC	p.S429N	CERKL_uc002uny.2_Missense_Mutation_p.S403N|CERKL_uc010zfm.1_Missense_Mutation_p.S385N|CERKL_uc002unz.2_Missense_Mutation_p.S151N|CERKL_uc002uoa.2_Missense_Mutation_p.S334N|CERKL_uc002uob.2_Missense_Mutation_p.S151N|CERKL_uc002uoc.2_Missense_Mutation_p.S290N|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.S198N|CERKL_uc002unw.2_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	429					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543447	182543447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182543447G>A	uc002uof.2	-	2	377	c.141C>T	c.(139-141)AAC>AAT	p.N47N	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	47					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)															---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183094743	183094743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183094743G>A	uc002uos.2	-	7	797	c.713C>T	c.(712-714)ACA>ATA	p.T238I	PDE1A_uc010zfp.1_Missense_Mutation_p.T134I|PDE1A_uc002uoq.1_Missense_Mutation_p.T238I|PDE1A_uc010zfq.1_Missense_Mutation_p.T238I|PDE1A_uc002uor.2_Missense_Mutation_p.T222I|PDE1A_uc002uou.2_Missense_Mutation_p.T204I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	238	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)															---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183848065	183848065	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183848065C>T	uc002upc.2	-	11	1452	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	NCKAP1_uc002upb.2_Silent_p.L356L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	350					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800760	185800760	+	Missense_Mutation	SNP	G	A	A	rs139641449		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185800760G>A	uc002uph.2	+	4	1231	c.637G>A	c.(637-639)GGC>AGC	p.G213S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	213						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	186670650	186670650	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186670650T>A	uc002upm.2	+						uc010zfu.1_Silent_p.V37V					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186671431	186671431	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186671431T>C	uc002upm.2	+						uc010zfu.1_Missense_Mutation_p.F298L					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
Unknown	0	broad.mit.edu	37	2	186689152	186689152	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186689152T>C	uc002upm.2	+						uc010zfu.1_Intron					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187534526	187534526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187534526A>G	uc002upq.2	+	26	2967	c.2691A>G	c.(2689-2691)GGA>GGG	p.G897G	ITGAV_uc010frs.2_Silent_p.G861G|ITGAV_uc010zfv.1_Silent_p.G851G	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	897	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693278	187693278	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187693278A>G	uc002upu.1	-	9	1375	c.1335T>C	c.(1333-1335)CCT>CCC	p.P445P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	445					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)															---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189870111	189870111	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189870111T>C	uc002uqj.1	+	41	3084	c.2967T>C	c.(2965-2967)AGT>AGC	p.S989S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	989	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189933518	189933518	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189933518A>G	uc002uqk.2	-	19	1526	c.1251T>C	c.(1249-1251)GGT>GGC	p.G417G	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	417					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189948739	189948739	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189948739G>A	uc002uqk.2	-	12	1098	c.823C>T	c.(823-825)CCT>TCT	p.P275S	COL5A2_uc010frx.2_Missense_Mutation_p.P28S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	275					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190322032	190322032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190322032A>G	uc002uql.1	+						WDR75_uc002uqm.1_Intron|WDR75_uc002uqn.1_Intron|WDR75_uc002uqo.1_Translation_Start_Site	NM_032168	NP_115544			WD repeat domain 75							nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)															---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190532261	190532261	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190532261C>G	uc002uqt.2	+	4	1837	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	468	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)															---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190647275	190647275	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190647275A>G	uc002urb.3	-	1	834	c.47T>C	c.(46-48)GTC>GCC	p.V16A	PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.V16A|ORMDL1_uc002urd.3_Missense_Mutation_p.V16A|ORMDL1_uc002ure.3_Missense_Mutation_p.V16A|ORMDL1_uc002urf.3_Missense_Mutation_p.V16A|PMS1_uc010zfz.1_5'Flank	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	16					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)															---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190927276	190927276	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190927276A>G	uc002urp.2	-	1	180	c.47T>C	c.(46-48)ATT>ACT	p.I16T		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	16					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)															---	---	---	---
NAB1	4664	broad.mit.edu	37	2	191524184	191524184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191524184A>G	uc002usb.2	+	4	854	c.282A>G	c.(280-282)ATA>ATG	p.I94M	NAB1_uc010fsc.2_Missense_Mutation_p.I94M|NAB1_uc010fsd.2_Missense_Mutation_p.I94M|NAB1_uc002usc.2_Missense_Mutation_p.I94M|NAB1_uc010zgh.1_Missense_Mutation_p.I94M	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)															---	---	---	---
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191792056G>A	uc002usf.2	+	12	1537	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191796330	191796330	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191796330A>T	uc002usf.2	+	14	1881	c.1617A>T	c.(1615-1617)AAA>AAT	p.K539N	GLS_uc002use.2_Missense_Mutation_p.K539N|GLS_uc002usg.1_Missense_Mutation_p.K200N|GLS_uc002ush.2_Missense_Mutation_p.K200N|GLS_uc010zgi.1_Missense_Mutation_p.K110N|GLS_uc010zgj.1_Missense_Mutation_p.K44N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	539					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
GLS	2744	broad.mit.edu	37	2	191819388	191819388	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191819388T>C	uc002usf.2	+	16	2053	c.1789_splice	c.e16+2	p.G597_splice	GLS_uc002ush.2_Splice_Site_p.G258_splice|GLS_uc010zgi.1_Silent_p.G168G|GLS_uc010zgj.1_Splice_Site_p.G102_splice	NM_014905	NP_055720			glutaminase precursor						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191863025	191863025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191863025G>A	uc002usj.2	-	8	939	c.551C>T	c.(550-552)ACC>ATC	p.T184I	STAT1_uc010fse.1_Missense_Mutation_p.T184I|STAT1_uc002usk.2_Missense_Mutation_p.T184I|STAT1_uc002usl.2_Missense_Mutation_p.T186I|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	184					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)													---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191937856	191937856	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191937856G>A	uc002usm.1	-	5	687	c.433C>T	c.(433-435)CAC>TAC	p.H145Y	STAT4_uc002usn.1_Missense_Mutation_p.H145Y|STAT4_uc002uso.2_Missense_Mutation_p.H145Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	145					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
STAT4	6775	broad.mit.edu	37	2	192011389	192011389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192011389T>C	uc002usm.1	-	3	477	c.223A>G	c.(223-225)AAA>GAA	p.K75E	STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.K75E|STAT4_uc002uso.2_Missense_Mutation_p.K75E|STAT4_uc002usp.3_Missense_Mutation_p.K75E|STAT4_uc010zgl.1_Missense_Mutation_p.K75E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	75					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192255027	192255027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192255027A>C	uc010fsg.2	+	18	2046	c.1791A>C	c.(1789-1791)AAA>AAC	p.K597N	MYO1B_uc002usq.2_Missense_Mutation_p.K597N|MYO1B_uc002usr.2_Missense_Mutation_p.K597N|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	597	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
SDPR	8436	broad.mit.edu	37	2	192700777	192700777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192700777A>T	uc002utb.2	-	2	1480	c.1150T>A	c.(1150-1152)TCA>ACA	p.S384T		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	384						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)													---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196573391	196573391	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196573391A>G	uc002utg.3	+	5	1612	c.1398A>G	c.(1396-1398)GGA>GGG	p.G466G	SLC39A10_uc002uth.3_Silent_p.G466G|SLC39A10_uc010zgp.1_Silent_p.G16G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	466	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)															---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196619245	196619245	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196619245T>C	uc002utj.3	-						DNAH7_uc002uti.3_Intron	NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196759893	196759893	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196759893T>A	uc002utj.3	-	30	4804	c.4703A>T	c.(4702-4704)GAT>GTT	p.D1568V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196883924	196883924	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196883924G>A	uc002utj.3	-	9	940	c.839C>T	c.(838-840)GCT>GTT	p.A280V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197004488	197004488	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197004488T>C	uc002utk.2	-	7	1016	c.692A>G	c.(691-693)CAC>CGC	p.H231R	STK17B_uc010fsh.2_Missense_Mutation_p.H231R	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197010665	197010665	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197010665A>C	uc002utk.2	-	4	774	c.450T>G	c.(448-450)CAT>CAG	p.H150Q	STK17B_uc010fsh.2_Missense_Mutation_p.H150Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	150	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197080627	197080627	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197080627G>A	uc002utm.1	-	28	4752	c.4569C>T	c.(4567-4569)TTC>TTT	p.F1523F	HECW2_uc002utl.1_Silent_p.F1167F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1523	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197559769	197559769	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197559769G>T	uc002utp.1	+	14	1645	c.1510_splice	c.e14-1	p.V504_splice	CCDC150_uc010zgq.1_Splice_Site|CCDC150_uc010zgr.1_Splice_Site|CCDC150_uc010zgs.1_Splice_Site_p.V172_splice|CCDC150_uc010zgt.1_5'Flank	NM_001080539	NP_001074008			coiled-coil domain containing 150												0																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197584353	197584353	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197584353C>T	uc002utp.1	+	19	2263	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	CCDC150_uc010zgs.1_Missense_Mutation_p.R357W|CCDC150_uc010zgt.1_Missense_Mutation_p.R127W|CCDC150_uc002utq.1_Missense_Mutation_p.R25W|CCDC150_uc002utr.1_Missense_Mutation_p.R25W	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	710											0																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634713	197634713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634713A>C	uc002uts.2	-	16	2401	c.2311T>G	c.(2311-2313)TTC>GTC	p.F771V	GTF3C3_uc010zgu.1_Missense_Mutation_p.F742V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	771						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197634743	197634743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197634743G>A	uc002uts.2	-	16	2371	c.2281C>T	c.(2281-2283)CGC>TGC	p.R761C	GTF3C3_uc010zgu.1_Missense_Mutation_p.R732C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	761	TPR 10.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197767343	197767343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197767343T>C	uc002utw.2	-	5	887	c.773A>G	c.(772-774)AAA>AGA	p.K258R	PGAP1_uc002utx.2_Missense_Mutation_p.K84R|PGAP1_uc002uty.1_Missense_Mutation_p.K258R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.K84R	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	258	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878384	197878384	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197878384T>C	uc002uua.1	-	18	1777	c.1700A>G	c.(1699-1701)GAC>GGC	p.D567G	ANKRD44_uc002utz.3_Missense_Mutation_p.D299G	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	592	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198273121	198273121	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198273121T>C	uc002uue.2	-	8	1137	c.1089A>G	c.(1087-1089)CCA>CCG	p.P363P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	363	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361942	198361942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361942T>C	uc002uui.2	-	3	486	c.349A>G	c.(349-351)ACT>GCT	p.T117A	HSPD1_uc002uuj.2_Missense_Mutation_p.T117A|HSPD1_uc010zgx.1_Missense_Mutation_p.T117A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.T117A|HSPD1_uc010zgy.1_Missense_Mutation_p.T117A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361971	198361971	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198361971T>G	uc002uui.2	-	3	457	c.320A>C	c.(319-321)GAA>GCA	p.E107A	HSPD1_uc002uuj.2_Missense_Mutation_p.E107A|HSPD1_uc010zgx.1_Missense_Mutation_p.E107A|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.E107A|HSPD1_uc010zgy.1_Missense_Mutation_p.E107A|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	107					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201337675	201337675	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201337675A>G	uc002uvn.3	+	12	1533	c.1181A>G	c.(1180-1182)CAC>CGC	p.H394R	SPATS2L_uc010fst.2_Missense_Mutation_p.H394R|SPATS2L_uc002uvo.3_Missense_Mutation_p.H334R|SPATS2L_uc002uvp.3_Missense_Mutation_p.H394R|SPATS2L_uc002uvq.3_Missense_Mutation_p.H325R|SPATS2L_uc002uvr.3_Missense_Mutation_p.H394R|SPATS2L_uc010zhc.1_Missense_Mutation_p.H424R	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	394						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3																		---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201685984	201685984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201685984A>C	uc010zhg.1	+	11	1332	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	BZW1_uc002uwc.2_Missense_Mutation_p.E329A	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	395	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201718027	201718027	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201718027A>T	uc002uwe.2	-	13					CLK1_uc002uwd.2_3'UTR|CLK1_uc010zhi.1_3'UTR|CLK1_uc002uwf.2_3'UTR|CLK1_uc002uwg.2_3'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062			CDC-like kinase 1 isoform 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201726528	201726528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201726528C>A	uc002uwe.2	-	2	239	c.58G>T	c.(58-60)GGA>TGA	p.G20*	CLK1_uc010zhi.1_Nonsense_Mutation_p.G62*|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	20					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---
CASP10	843	broad.mit.edu	37	2	202050789	202050789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202050789T>C	uc002uxl.1	+	2	707	c.289T>C	c.(289-291)TGT>CGT	p.C97R	CASP10_uc002uxi.1_Missense_Mutation_p.C97R|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.C97R|CASP10_uc002uxk.1_Missense_Mutation_p.C97R|CASP10_uc010fta.1_Missense_Mutation_p.C97R|CASP10_uc002uxm.1_Missense_Mutation_p.C97R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	97	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6																		---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136301	202136301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202136301T>C	uc002uxr.1	+	4	577	c.368T>C	c.(367-369)CTT>CCT	p.L123P	CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc002uxy.1_Missense_Mutation_p.L123P|CASP8_uc002uxx.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	123	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5															HNSCC(4;0.00038)			---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202483730	202483730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202483730G>A	uc002uye.2	-	1	172	c.124C>T	c.(124-126)CAC>TAC	p.H42Y	ALS2CR11_uc002uyf.2_Missense_Mutation_p.H42Y|ALS2CR11_uc010fti.2_Missense_Mutation_p.H42Y	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	42										large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202510022	202510022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202510022C>T	uc002uyk.3	-	22	2033	c.1825G>A	c.(1825-1827)GCC>ACC	p.A609T	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.A227T|MPP4_uc010ftj.2_Missense_Mutation_p.A602T|MPP4_uc010zhq.1_Missense_Mutation_p.A578T|MPP4_uc010zhr.1_Missense_Mutation_p.A585T|MPP4_uc010zhs.1_Missense_Mutation_p.A534T|MPP4_uc002uyj.3_Missense_Mutation_p.A574T|MPP4_uc010zht.1_Missense_Mutation_p.A551T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.A565T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	609	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0																		---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588154	202588154	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202588154A>G	uc002uyo.2	-	22	3879	c.3523T>C	c.(3523-3525)TAT>CAT	p.Y1175H	ALS2_uc002uyp.3_Missense_Mutation_p.Y1175H|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1175	MORN 6.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---
NOP58	51602	broad.mit.edu	37	2	203160406	203160406	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203160406T>C	uc002uzb.2	+	10	1067	c.917T>C	c.(916-918)TTA>TCA	p.L306S		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	306	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0																		---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203630429	203630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203630429T>C	uc010zhx.1	+	8	1722	c.1712T>C	c.(1711-1713)GTC>GCC	p.V571A		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	571										ovary(1)	1																		---	---	---	---
ICA1L	130026	broad.mit.edu	37	2	203693595	203693595	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203693595A>G	uc002uzh.1	-	3	302	c.138T>C	c.(136-138)GAT>GAC	p.D46D	ICA1L_uc002uzi.1_Silent_p.D46D|ICA1L_uc002uzj.2_Silent_p.D46D|ICA1L_uc002uzk.1_Silent_p.D46D	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	46	AH.										0																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204305854	204305854	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204305854G>A	uc002vad.2	-	14	2284	c.2059C>T	c.(2059-2061)CCA>TCA	p.P687S		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	687					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204309652	204309652	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204309652A>C	uc002vad.2	-	13	1940	c.1715T>G	c.(1714-1716)ATT>AGT	p.I572S	RAPH1_uc002vae.2_Missense_Mutation_p.I624S|RAPH1_uc002vaf.2_Missense_Mutation_p.I624S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	572					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	205986606	205986606	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:205986606A>G	uc002var.1	+	8	1305	c.1098A>G	c.(1096-1098)TCA>TCG	p.S366S	PARD3B_uc010fub.1_Silent_p.S366S|PARD3B_uc002vao.1_Silent_p.S366S|PARD3B_uc002vap.1_Silent_p.S366S|PARD3B_uc002vaq.1_Silent_p.S366S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	366					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207011675	207011675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207011675G>A	uc002vbe.2	-	8	816	c.689C>T	c.(688-690)GCC>GTC	p.A230V	NDUFS1_uc010ziq.1_Missense_Mutation_p.A244V|NDUFS1_uc010zir.1_Missense_Mutation_p.A194V|NDUFS1_uc010zis.1_Missense_Mutation_p.A173V|NDUFS1_uc010zit.1_Missense_Mutation_p.A119V|NDUFS1_uc010ziu.1_Missense_Mutation_p.A114V	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	230					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207173626	207173626	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207173626T>G	uc002vbp.2	+	5	4624	c.4374T>G	c.(4372-4374)TCT>TCG	p.S1458S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1458							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174279	207174279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429738	207429738	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429738G>A	uc002vbq.2	+						ADAM23_uc010ziv.1_Intron	NM_003812	NP_003803			ADAM metallopeptidase domain 23 preproprotein						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207429771	207429771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207429771G>A	uc002vbq.2	+	14	1596	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	458	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207530748	207530748	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207530748A>C	uc002vbr.1	-	10	1103	c.986T>G	c.(985-987)CTT>CGT	p.L329R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	329	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---
CPO	130749	broad.mit.edu	37	2	207825666	207825666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207825666A>G	uc002vby.2	+	6	620	c.574A>G	c.(574-576)AGT>GGT	p.S192G		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	192					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)														---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208432253	208432253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208432253C>T	uc002vcc.2	+	5	621	c.370C>T	c.(370-372)CGA>TGA	p.R124*	CREB1_uc010ziz.1_Nonsense_Mutation_p.R108*|CREB1_uc002vcd.2_Nonsense_Mutation_p.R110*|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	124	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208841586	208841586	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208841586C>A	uc002vcl.2	-	3	1825	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	PLEKHM3_uc002vcm.2_Missense_Mutation_p.Q445H	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	445	PH 2.				intracellular signal transduction		metal ion binding			ovary(1)	1																		---	---	---	---
CRYGC	1420	broad.mit.edu	37	2	208993087	208993087	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208993087C>T	uc002vco.3	-	3	403	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	122	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)														---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113132	209113132	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209113132T>C	uc002vcs.2	-	4	621	c.375A>G	c.(373-375)GTA>GTG	p.V125V	IDH1_uc002vct.2_Silent_p.V125V|IDH1_uc002vcu.2_Silent_p.V125V	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	125					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)				Mis		gliobastoma 								---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209153549	209153549	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209153549T>A	uc002vcz.2	+						PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Intron|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855			phosphatidylinositol-3-phosphate 5-kinase type						cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209165682	209165682	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209165682C>A	uc002vcz.2	+	9	1230	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	PIKFYVE_uc010fun.1_Missense_Mutation_p.L39M|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L358M|PIKFYVE_uc002vcv.2_Missense_Mutation_p.L261M|PIKFYVE_uc002vcw.2_Missense_Mutation_p.L358M|PIKFYVE_uc002vcx.2_Missense_Mutation_p.L272M	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	358					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209271804	209271804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209271804T>C	uc002vdb.2	+	1	249	c.36T>C	c.(34-36)GGT>GGC	p.G12G	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	12						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209307125	209307125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353840	209353840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353840C>T	uc002vdb.2	+	11	1393	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	PTH2R_uc010zjb.1_Missense_Mutation_p.R405C|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	394	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209353869	209353869	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209353869C>T	uc002vdb.2	+	11	1422	c.1209C>T	c.(1207-1209)TCC>TCT	p.S403S	PTH2R_uc010zjb.1_Silent_p.S414S|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	403	Helical; Name=7; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560092	210560092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210560092G>T	uc002vde.1	+	7	3446	c.3198G>T	c.(3196-3198)AGG>AGT	p.R1066S	MAP2_uc002vdc.1_Missense_Mutation_p.R1066S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1062S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1066					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210574631	210574631	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210574631A>G	uc002vde.1	+						MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210588382	210588382	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210588382A>T	uc002vde.1	+						MAP2_uc002vdd.1_Missense_Mutation_p.N414Y|MAP2_uc002vdf.1_Missense_Mutation_p.N357Y|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210887769	210887769	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210887769T>C	uc002vds.2	-	15	3076	c.2868A>G	c.(2866-2868)GTA>GTG	p.V956V	C2orf67_uc002vdt.2_Silent_p.V914V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	956										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210892042	210892042	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210892042T>C	uc002vds.2	-	12	2637	c.2429A>G	c.(2428-2430)GAA>GGA	p.E810G	C2orf67_uc002vdt.2_Missense_Mutation_p.E768G	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	810										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210896271	210896271	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210896271C>G	uc002vds.2	-	9	2238	c.2030_splice	c.e9-1	p.V677_splice	C2orf67_uc002vdt.2_Intron|uc002vdu.1_Intron	NM_152519	NP_689732			hypothetical protein LOC151050											ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211319880	211319880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211319880G>A	uc010zjh.1	-	4	433	c.358C>T	c.(358-360)CTA>TTA	p.L120L	LANCL1_uc002ved.2_Silent_p.L120L|LANCL1_uc010fuq.2_Silent_p.L120L	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	120						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211457691	211457691	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211457691A>G	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211465360	211465360	+	Missense_Mutation	SNP	C	T	T	rs121912592		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211465360C>T	uc002vee.3	+	15	1763	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	CPS1_uc010fur.2_Missense_Mutation_p.T550M|CPS1_uc010fus.2_Missense_Mutation_p.T93M	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	544			T -> M (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212293210	212293210	+	Splice_Site	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212293210T>A	uc002veg.1	-	22	2742	c.2644_splice	c.e22-1	p.M882_splice	ERBB4_uc002veh.1_Splice_Site_p.M882_splice|ERBB4_uc010zji.1_Splice_Site_p.M872_splice|ERBB4_uc010zjj.1_Splice_Site_p.M872_splice	NM_005235	NP_005226			v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212570080	212570080	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212570080C>A	uc002veg.1	-	10	1259	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D	ERBB4_uc002veh.1_Missense_Mutation_p.E387D|ERBB4_uc010zji.1_Missense_Mutation_p.E387D|ERBB4_uc010zjj.1_Missense_Mutation_p.E387D|ERBB4_uc010fut.1_Missense_Mutation_p.E387D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	387	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213914553	213914553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:213914553C>T	uc002vem.2	-	5	627	c.458G>A	c.(457-459)GGC>GAC	p.G153D	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.G100D|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.G127D|IKZF2_uc002vel.2_Missense_Mutation_p.G74D|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.G127D|IKZF2_uc002ven.2_Missense_Mutation_p.G127D	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)														---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215275016	215275016	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215275016G>A	uc002veq.2	+	16	1965	c.1873G>A	c.(1873-1875)GGC>AGC	p.G625S	SPAG16_uc002ver.2_Missense_Mutation_p.G571S|SPAG16_uc010zjk.1_Missense_Mutation_p.G531S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	625	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215833442	215833442	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215833442A>G	uc002vew.2	-	38	5998	c.5778_splice	c.e38+1	p.K1926_splice	ABCA12_uc002vev.2_Splice_Site_p.K1608_splice|ABCA12_uc010zjn.1_Splice_Site_p.K853_splice	NM_173076	NP_775099			ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215847077	215847077	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215847077A>T	uc002vew.2	-	30	4633	c.4413T>A	c.(4411-4413)CAT>CAA	p.H1471Q	ABCA12_uc002vev.2_Missense_Mutation_p.H1153Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H398Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1471	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215851381	215851381	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215851381C>T	uc002vew.2	-	28	4268	c.4048G>A	c.(4048-4050)GGG>AGG	p.G1350R	ABCA12_uc002vev.2_Missense_Mutation_p.G1032R|ABCA12_uc010zjn.1_Missense_Mutation_p.G277R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1350	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215855563	215855563	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215855563A>G	uc002vew.2	-	24	3707	c.3487T>C	c.(3487-3489)TAT>CAT	p.Y1163H	ABCA12_uc002vev.2_Missense_Mutation_p.Y845H|ABCA12_uc010zjn.1_Missense_Mutation_p.Y90H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1163	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215901775	215901775	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215901775A>G	uc002vew.2	-	8	1107	c.887T>C	c.(886-888)GTG>GCG	p.V296A	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	296					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.V296V(1)		ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215928846	215928846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215928846T>C	uc002vew.2	-	3	480	c.260A>G	c.(259-261)TAT>TGT	p.Y87C	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	87					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
ATIC	471	broad.mit.edu	37	2	216211630	216211630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216211630C>T	uc002vex.3	+	14	1643	c.1469C>T	c.(1468-1470)GCC>GTC	p.A490V	ATIC_uc010zjo.1_Missense_Mutation_p.A431V|ATIC_uc002vey.3_Missense_Mutation_p.A489V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	490					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)			T	ALK	ALCL								---	---	---	---
FN1	2335	broad.mit.edu	37	2	216241350	216241350	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216241350T>C	uc002vfa.2	-	36	6024	c.5758A>G	c.(5758-5760)ACC>GCC	p.T1920A	FN1_uc002vfb.2_Missense_Mutation_p.T1739A|FN1_uc002vfc.2_Missense_Mutation_p.T1739A|FN1_uc002vfd.2_Missense_Mutation_p.T1920A|FN1_uc002vfe.2_Missense_Mutation_p.T1829A|FN1_uc002vff.2_Missense_Mutation_p.T1829A|FN1_uc002vfg.2_Missense_Mutation_p.T1739A|FN1_uc002vfh.2_Missense_Mutation_p.T1739A|FN1_uc002vfi.2_Missense_Mutation_p.T1920A|FN1_uc002vfj.2_Missense_Mutation_p.T1830A|FN1_uc002vez.2_Missense_Mutation_p.T114A|FN1_uc010zjp.1_Missense_Mutation_p.T457A|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.T282A|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216245532	216245532	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216245532A>T	uc002vfa.2	-	33	5700	c.5434_splice	c.e33+1	p.A1812_splice	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Splice_Site_p.A1812_splice|FN1_uc002vfe.2_Splice_Site_p.A1721_splice|FN1_uc002vff.2_Splice_Site_p.A1721_splice|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Splice_Site_p.A1812_splice|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Splice_Site_p.A174_splice|FN1_uc010fvd.1_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216269191	216269191	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216269191A>G	uc002vfa.2	-	20	3440	c.3174T>C	c.(3172-3174)CCT>CCC	p.P1058P	FN1_uc002vfb.2_Silent_p.P1058P|FN1_uc002vfc.2_Silent_p.P1058P|FN1_uc002vfd.2_Silent_p.P1058P|FN1_uc002vfe.2_Silent_p.P1058P|FN1_uc002vff.2_Silent_p.P1058P|FN1_uc002vfg.2_Silent_p.P1058P|FN1_uc002vfh.2_Silent_p.P1058P|FN1_uc002vfi.2_Silent_p.P1058P|FN1_uc002vfj.2_Silent_p.P1058P	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1058	|Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216272839	216272839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216272839G>A	uc002vfa.2	-	17	2776	c.2510C>T	c.(2509-2511)CCC>CTC	p.P837L	FN1_uc002vfb.2_Missense_Mutation_p.P837L|FN1_uc002vfc.2_Missense_Mutation_p.P837L|FN1_uc002vfd.2_Missense_Mutation_p.P837L|FN1_uc002vfe.2_Missense_Mutation_p.P837L|FN1_uc002vff.2_Missense_Mutation_p.P837L|FN1_uc002vfg.2_Missense_Mutation_p.P837L|FN1_uc002vfh.2_Missense_Mutation_p.P837L|FN1_uc002vfi.2_Missense_Mutation_p.P837L|FN1_uc002vfj.2_Missense_Mutation_p.P837L	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	837	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216273076	216273076	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216273076A>T	uc002vfa.2	-	16	2639	c.2373T>A	c.(2371-2373)TAT>TAA	p.Y791*	FN1_uc002vfb.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfc.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfd.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfe.2_Nonsense_Mutation_p.Y791*|FN1_uc002vff.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfg.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfh.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfi.2_Nonsense_Mutation_p.Y791*|FN1_uc002vfj.2_Nonsense_Mutation_p.Y791*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	791	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274843	216274843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216274843A>G	uc002vfa.2	-						FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Intron|FN1_uc002vfj.2_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
MREG	55686	broad.mit.edu	37	2	216810365	216810365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216810365A>G	uc002vfo.2	-	4	735	c.439T>C	c.(439-441)TTA>CTA	p.L147L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	147						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)														---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216981555	216981555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216981555A>G	uc002vfy.2	+	3	449	c.309A>G	c.(307-309)CAA>CAG	p.Q103Q	XRCC5_uc002vfz.2_5'Flank	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	103					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)									Direct_reversal_of_damage|NHEJ					---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217280157	217280157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217280157A>G	uc002vgc.3	+	3	1060	c.730A>G	c.(730-732)AAC>GAC	p.N244D	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N244D|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N244D	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	244					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)										Schimke_Immuno-Osseous_Dysplasia				---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218669296	218669296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218669296G>A	uc002vgt.2	-	33	5492	c.5094C>T	c.(5092-5094)GGC>GGT	p.G1698G	TNS1_uc002vgr.2_Silent_p.G1684G|TNS1_uc002vgs.2_Silent_p.G1677G|TNS1_uc002vgq.2_Silent_p.G198G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1698						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712549	218712549	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218712549C>T	uc002vgt.2	-	17	2714	c.2316G>A	c.(2314-2316)TCG>TCA	p.S772S	TNS1_uc002vgr.2_Silent_p.S772S|TNS1_uc002vgs.2_Silent_p.S772S|TNS1_uc010zjv.1_Silent_p.S772S|TNS1_uc010fvj.1_Silent_p.S840S|TNS1_uc010fvk.1_Silent_p.S897S|TNS1_uc010fvi.1_Silent_p.S459S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	772						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	218999581	218999581	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218999581T>A	uc002vgz.1	+	4	282	c.57T>A	c.(55-57)GAT>GAA	p.D19E	CXCR2_uc002vha.1_Missense_Mutation_p.D19E|CXCR2_uc002vhb.1_Missense_Mutation_p.D19E	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	19	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	219000013	219000013	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219000013A>C	uc002vgz.1	+	4	714	c.489A>C	c.(487-489)AAA>AAC	p.K163N	CXCR2_uc002vha.1_Missense_Mutation_p.K163N|CXCR2_uc002vhb.1_Missense_Mutation_p.K163N	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	163	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
CXCR1	3577	broad.mit.edu	37	2	219029676	219029676	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219029676G>T	uc002vhc.2	-	2	378	c.259C>A	c.(259-261)CTC>ATC	p.L87I		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	87	Helical; Name=2; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2																		---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219209631	219209631	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219209631G>T	uc002vhn.2	+	10	1229	c.1085G>T	c.(1084-1086)GGG>GTG	p.G362V	PNKD_uc002vhq.2_Missense_Mutation_p.G338V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	362						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CTDSP1	58190	broad.mit.edu	37	2	219267084	219267084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219267084G>A	uc002vhy.2	+	4	670	c.334G>A	c.(334-336)GCG>ACG	p.A112T	CTDSP1_uc002vhx.2_Missense_Mutation_p.A111T|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	112	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219350422	219350422	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219350422A>T	uc002vie.2	-	16	2088	c.1635T>A	c.(1633-1635)TGT>TGA	p.C545*	USP37_uc010fvs.1_Nonsense_Mutation_p.C545*|USP37_uc010zkf.1_Nonsense_Mutation_p.C545*|USP37_uc002vif.2_Nonsense_Mutation_p.C545*|USP37_uc002vig.2_Nonsense_Mutation_p.C473*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	545					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219411702	219411702	+	Missense_Mutation	SNP	C	T	T	rs141437175		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219411702C>T	uc002vie.2	-	7	995	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	USP37_uc010fvs.1_Missense_Mutation_p.R181Q|USP37_uc010zkf.1_Missense_Mutation_p.R181Q|USP37_uc002vif.2_Missense_Mutation_p.R181Q|USP37_uc002vig.2_Missense_Mutation_p.R109Q|USP37_uc010zkg.1_Missense_Mutation_p.R181Q	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
PLCD4	84812	broad.mit.edu	37	2	219487417	219487417	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219487417A>G	uc002vij.1	+	6	783	c.588A>G	c.(586-588)GTA>GTG	p.V196V	PLCD4_uc002vik.1_Silent_p.V43V|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	196	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508288	219508288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219508288A>T	uc002vin.2	-	8	3387	c.2951T>A	c.(2950-2952)GTC>GAC	p.V984D	ZNF142_uc002vil.2_Missense_Mutation_p.V945D|ZNF142_uc010fvt.2_Missense_Mutation_p.V821D|ZNF142_uc002vim.2_Missense_Mutation_p.V821D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219526039	219526039	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219526039G>A	uc002vio.2	+						ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Intron|BCS1L_uc002viq.2_Intron|BCS1L_uc010fvu.2_Intron|BCS1L_uc010fvv.2_Intron|BCS1L_uc002vir.2_Intron|BCS1L_uc002vis.2_Intron	NM_004328	NP_004319			BCS1-like						mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528796	219528796	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528796G>T	uc002vit.2	-	10	1352	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	RNF25_uc010fvw.2_Missense_Mutation_p.R310S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	422					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219528942	219528942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219528942G>A	uc002vit.2	-	10	1206	c.1118C>T	c.(1117-1119)CCA>CTA	p.P373L	RNF25_uc010fvw.2_Missense_Mutation_p.P261L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	373					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219558684	219558684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219558684C>T	uc002viu.2	+	19	2580	c.2314C>T	c.(2314-2316)CGG>TGG	p.R772W	STK36_uc002viv.2_Missense_Mutation_p.R772W|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
STK36	27148	broad.mit.edu	37	2	219566579	219566579	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219566579T>A	uc002viu.2	+						STK36_uc002viv.2_Intron|STK36_uc002viw.2_Intron|STK36_uc002vix.2_Intron	NM_015690	NP_056505			serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)														---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219603528	219603528	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219603528A>G	uc002viy.2	+	3	1499	c.1129A>G	c.(1129-1131)AGG>GGG	p.R377G	TTLL4_uc010zkl.1_Missense_Mutation_p.R212G|TTLL4_uc010fvx.2_Missense_Mutation_p.R377G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219735872	219735872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219735872C>T	uc002vjc.1	+	2	419	c.204C>T	c.(202-204)GGC>GGT	p.G68G		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	68					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219736234	219736234	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219736234C>T	uc002vjc.1	+	3	544	c.329C>T	c.(328-330)GCC>GTC	p.A110V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	110					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219869020	219869020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219869020T>C	uc002vjl.1	-	33	5293	c.5209A>G	c.(5209-5211)AGC>GGC	p.S1737G	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1737						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SLC23A3	151295	broad.mit.edu	37	2	220033490	220033490	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220033490G>C	uc010zks.1	-	5	669	c.558C>G	c.(556-558)GGC>GGG	p.G186G	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Silent_p.G194G|SLC23A3_uc010fwb.2_Silent_p.G186G|SLC23A3_uc002vjs.1_Missense_Mutation_p.P39A|SLC23A3_uc002vjt.1_Silent_p.G44G	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	186	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220046854	220046854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220046854T>C	uc002vjw.3	+	9	1271	c.1135T>C	c.(1135-1137)TCA>CCA	p.S379P	FAM134A_uc010fwc.2_Missense_Mutation_p.S172P|FAM134A_uc002vjx.2_Missense_Mutation_p.S172P	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	379						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220149476	220149476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220349088	220349088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220349088G>A	uc010fwg.2	+	30	6903	c.6903G>A	c.(6901-6903)CCG>CCA	p.P2301P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2301	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220354263	220354263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220354263A>G	uc010fwg.2	+	36	8523	c.8523A>G	c.(8521-8523)CCA>CCG	p.P2841P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2841	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220357350	220357350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220357350C>A	uc010fwg.2	+	41	9646	c.9646C>A	c.(9646-9648)CCA>ACA	p.P3216T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3216	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220366625	220366625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220366625C>T	uc002vlr.2	+	5	363	c.295C>T	c.(295-297)CGA>TGA	p.R99*	GMPPA_uc002vls.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlt.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlu.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlv.2_Nonsense_Mutation_p.R99*|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Nonsense_Mutation_p.R99*	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	99					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222310897	222310897	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222310897T>C	uc002vmq.2	-	9	1762	c.1720A>G	c.(1720-1722)AGT>GGT	p.S574G	EPHA4_uc002vmr.2_Missense_Mutation_p.S574G|EPHA4_uc010zlm.1_Missense_Mutation_p.S515G|EPHA4_uc010zln.1_Missense_Mutation_p.S574G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	574	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222321482	222321482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222321482T>C	uc002vmq.2	-	7	1496	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	EPHA4_uc002vmr.2_Missense_Mutation_p.E485G|EPHA4_uc010zlm.1_Missense_Mutation_p.E426G|EPHA4_uc010zln.1_Missense_Mutation_p.E485G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	485	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347160	222347160	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347160G>T	uc002vmq.2	-	5	1272	c.1230C>A	c.(1228-1230)ACC>ACA	p.T410T	EPHA4_uc002vmr.2_Silent_p.T410T|EPHA4_uc010zlm.1_Silent_p.T351T|EPHA4_uc010zln.1_Silent_p.T410T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	410	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222347301	222347301	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222347301A>G	uc002vmq.2	-	5	1131	c.1089T>C	c.(1087-1089)AAT>AAC	p.N363N	EPHA4_uc002vmr.2_Silent_p.N363N|EPHA4_uc010zlm.1_Silent_p.N304N|EPHA4_uc010zln.1_Silent_p.N363N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	363	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
FARSB	10056	broad.mit.edu	37	2	223499245	223499245	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223499245A>G	uc002vne.1	-	6	506	c.471T>C	c.(469-471)GTT>GTC	p.V157V	FARSB_uc010zlq.1_Silent_p.V177V|FARSB_uc002vnf.1_Silent_p.V58V	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	157					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)													---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223559222	223559222	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223559222G>T	uc010fws.1	+	4	668	c.620G>T	c.(619-621)CGG>CTG	p.R207L	MOGAT1_uc010fwt.1_Missense_Mutation_p.R167L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	207					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)														---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223781031	223781031	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223781031T>C	uc002vni.2	+						ACSL3_uc002vnj.2_Intron	NM_004457	NP_004448			acyl-CoA synthetase long-chain family member 3						long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)			T	ETV1	prostate								---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224462954	224462954	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224462954A>T	uc002vnm.2	-	2	1180	c.1047T>A	c.(1045-1047)TAT>TAA	p.Y349*		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	349					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224863058	224863058	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224863058T>C	uc002vnu.2	-	3	504	c.261A>G	c.(259-261)GGA>GGG	p.G87G	SERPINE2_uc002vnt.2_Silent_p.G87G|SERPINE2_uc010zlr.1_Silent_p.G99G|SERPINE2_uc002vnv.2_Silent_p.G87G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	87					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225630541	225630541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225630541T>C	uc010fwz.1	-	56	6697	c.6458A>G	c.(6457-6459)GAC>GGC	p.D2153G	DOCK10_uc002vob.2_Missense_Mutation_p.D2147G|DOCK10_uc002voa.2_Silent_p.G834G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2153							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226273691	226273691	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226273691A>G	uc002voe.2	+	2	270	c.95A>G	c.(94-96)GAT>GGT	p.D32G	KIAA1486_uc010fxa.1_Missense_Mutation_p.D27G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	32								p.D32N(1)		ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226446929	226446929	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446929G>A	uc002voe.2	+	4	971	c.796G>A	c.(796-798)GCC>ACC	p.A266T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A36T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	266										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226447576	226447576	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226447576G>A	uc002voe.2	+	4	1618	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	481										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660190	227660190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227660190G>A	uc002voh.3	-	1	3317	c.3265C>T	c.(3265-3267)CGT>TGT	p.R1089C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1089					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663097	227663097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663097G>A	uc002voh.3	-	1	410	c.358C>T	c.(358-360)CAC>TAC	p.H120Y		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	120	Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)												OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227732001	227732001	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227732001T>A	uc002voi.2	+	3	654	c.533T>A	c.(532-534)GTC>GAC	p.V178D	RHBDD1_uc010fxc.2_Missense_Mutation_p.V178D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	178						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227919385	227919385	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227919385G>A	uc010zlt.1	-	31	3439	c.2785C>T	c.(2785-2787)CCT>TCT	p.P929S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	929	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---
MFF	56947	broad.mit.edu	37	2	228220472	228220472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228220472C>T	uc002vos.2	+	10	1310	c.892C>T	c.(892-894)CGA>TGA	p.R298*	MFF_uc002vot.2_Nonsense_Mutation_p.R247*|MFF_uc002vou.2_Nonsense_Mutation_p.R220*|MFF_uc002vov.2_Nonsense_Mutation_p.R194*|MFF_uc002vow.2_Nonsense_Mutation_p.R199*|MFF_uc002vox.2_Nonsense_Mutation_p.R174*|MFF_uc002voy.2_Nonsense_Mutation_p.R298*|MFF_uc002voz.2_Nonsense_Mutation_p.R174*|MFF_uc002vpa.2_Nonsense_Mutation_p.R86*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298	Potential.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1																		---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228680264	228680264	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228680264C>A	uc002vpl.2	+	2	241	c.171C>A	c.(169-171)GGC>GGA	p.G57G	CCL20_uc002vpm.2_Silent_p.G56G	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	57					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230910760	230910760	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230910760A>G	uc002vqd.1	-	4	1445	c.1082T>C	c.(1081-1083)ATA>ACA	p.I361T	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I361T|SLC16A14_uc002vqf.2_Missense_Mutation_p.I361T	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	361	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230923905	230923905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230923905C>T	uc002vqd.1	-	2	527	c.164G>A	c.(163-165)GGT>GAT	p.G55D	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.G55D|SLC16A14_uc002vqf.2_Missense_Mutation_p.G55D	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	55	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231036441	231036441	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231036441T>C	uc002vqh.3	-						SP110_uc002vqg.3_Missense_Mutation_p.S620G	NM_004509	NP_004500			SP110 nuclear body protein isoform a						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231042316	231042316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231042316T>C	uc002vqh.3	-	14	1768	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D	SP110_uc002vqg.3_Missense_Mutation_p.N510D|SP110_uc002vqi.3_Missense_Mutation_p.N510D|SP110_uc010fxk.2_Missense_Mutation_p.N508D|SP110_uc010fxj.2_Missense_Mutation_p.N153D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)														---	---	---	---
SP140	11262	broad.mit.edu	37	2	231134660	231134660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134660G>A	uc002vql.2	+	14	1551	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.G365D|SP140_uc002vqm.2_Missense_Mutation_p.G419D|SP140_uc010fxl.2_Missense_Mutation_p.G452D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	479					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231193506	231193506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231193506G>A	uc010fxm.1	+	2	158	c.67G>A	c.(67-69)GAG>AAG	p.E23K	SP140_uc010zma.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231253321	231253321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231253321G>T	uc010fxm.1	+	10	923	c.832G>T	c.(832-834)GCT>TCT	p.A278S	SP140L_uc010fxo.1_Missense_Mutation_p.A85S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	278						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231948386	231948386	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231948386T>C	uc002vrn.1	+	14	1762	c.1631T>C	c.(1630-1632)ATT>ACT	p.I544T	PSMD1_uc002vrm.1_Missense_Mutation_p.I544T|PSMD1_uc010fxu.1_Missense_Mutation_p.I408T	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	544	PC 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)													---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231988258	231988258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231988258A>G	uc002vro.2	-	2	726	c.221T>C	c.(220-222)CTT>CCT	p.L74P	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L74P	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	74	Helical; Name=1; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)													---	---	---	---
NCL	4691	broad.mit.edu	37	2	232325554	232325554	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232325554T>A	uc002vru.2	-	4	778	c.637A>T	c.(637-639)ACT>TCT	p.T213S	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	213					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)														---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458471	232458471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232458471A>G	uc002vrz.2	+	1	860	c.809A>G	c.(808-810)AAC>AGC	p.N270S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	270										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)														---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233194691	233194691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233194691C>T	uc010fxz.2	+	15	2184	c.1908C>T	c.(1906-1908)TCC>TCT	p.S636S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	636							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)														---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233274458	233274458	+	Missense_Mutation	SNP	C	T	T	rs138133953	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233274458C>T	uc002vss.3	+	11	1528	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	492					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)													---	---	---	---
ALPI	248	broad.mit.edu	37	2	233322832	233322832	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233322832C>A	uc002vst.3	+	8	1058	c.981C>A	c.(979-981)CTC>CTA	p.L327L	ALPI_uc002vsu.3_Silent_p.L238L	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	327					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)														---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233404465	233404465	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233404465G>T	uc002vsx.1	+	1	29	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CHRNG_uc010fyd.2_Missense_Mutation_p.G3V|CHRNG_uc010fye.1_Missense_Mutation_p.G3V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	3					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)														---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233620987	233620987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233620987G>T	uc002vti.3	+	8	659	c.322G>T	c.(322-324)GGA>TGA	p.G108*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.G108*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.G108*|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	108	Poly-Gly.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233744335	233744335	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233744335G>A	uc002vts.2	-	15	2245	c.1997C>T	c.(1996-1998)TCC>TTC	p.S666F	NGEF_uc010zmm.1_Missense_Mutation_p.S389F|NGEF_uc010fyg.1_Missense_Mutation_p.S574F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	666	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785033	233785033	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233785033C>T	uc002vts.2	-	5	1037	c.789G>A	c.(787-789)GTG>GTA	p.V263V	NGEF_uc010fyg.1_Silent_p.V171V|NGEF_uc002vtt.2_Silent_p.V171V	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	263	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072495	234072495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234072495G>A	uc010zmo.1	+	11	1536	c.1383G>A	c.(1381-1383)TGG>TGA	p.W461*	INPP5D_uc010zmp.1_Nonsense_Mutation_p.W460*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	461					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)														---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234359623	234359623	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234359623T>C	uc002vui.1	+	17	2106	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	DGKD_uc002vuj.1_Silent_p.S654S|DGKD_uc010fyh.1_Silent_p.S565S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234368890	234368890	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234368890G>A	uc002vui.1	+	24	2892	c.2880G>A	c.(2878-2880)CTG>CTA	p.L960L	DGKD_uc002vuj.1_Silent_p.L916L|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	960				L -> V (in Ref. 1; BAC11809 and 4; BAA11134).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621647	234621647	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621647G>T	uc002vuw.2	+	1	10	c.10G>T	c.(10-12)GGA>TGA	p.G4*	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Nonsense_Mutation_p.G4*	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	4					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234621927	234621927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234621927C>T	uc002vuw.2	+	1	290	c.290C>T	c.(289-291)ACT>ATT	p.T97I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.T97I	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	97					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236945228	236945228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:236945228A>G	uc002vvs.2	+	14	2264	c.1669A>G	c.(1669-1671)ATC>GTC	p.I557V	AGAP1_uc002vvt.2_Missense_Mutation_p.I504V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	557	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237374169	237374169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237374169C>T	uc002vvz.1	-	6	1087	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	IQCA1_uc002vwb.2_Missense_Mutation_p.R309Q|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R302Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	302							ATP binding			ovary(1)	1																		---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238249610	238249610	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238249610T>A	uc002vwl.2	-	38	8234	c.7949A>T	c.(7948-7950)GAC>GTC	p.D2650V	COL6A3_uc002vwo.2_Missense_Mutation_p.D2444V|COL6A3_uc010znj.1_Missense_Mutation_p.D2043V|COL6A3_uc002vwj.2_Missense_Mutation_p.D31V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2650	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238253585	238253585	+	Silent	SNP	G	A	A	rs114248590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238253585G>A	uc002vwl.2	-	35	7458	c.7173C>T	c.(7171-7173)TAC>TAT	p.Y2391Y	COL6A3_uc002vwo.2_Silent_p.Y2185Y|COL6A3_uc010znj.1_Silent_p.Y1784Y|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.Y212Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2391	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285615	238285615	+	Missense_Mutation	SNP	T	C	C	rs116294003	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285615T>C	uc002vwl.2	-	7	3155	c.2870A>G	c.(2869-2871)GAT>GGT	p.D957G	COL6A3_uc002vwo.2_Missense_Mutation_p.D751G|COL6A3_uc010znj.1_Missense_Mutation_p.D350G|COL6A3_uc002vwq.2_Missense_Mutation_p.D751G|COL6A3_uc002vwr.2_Missense_Mutation_p.D550G|COL6A3_uc010znk.1_Missense_Mutation_p.D757G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	957	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238296676	238296676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238296676G>A	uc002vwl.2	-	4	1146	c.861C>T	c.(859-861)AGC>AGT	p.S287S	COL6A3_uc002vwo.2_Silent_p.S81S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.S81S|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.S287S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	287	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238303419	238303419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238303419C>T	uc002vwl.2	-	3	805	c.520G>A	c.(520-522)GCA>ACA	p.A174T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A174T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	174	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238725827	238725827	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238725827A>C	uc002vxi.3	+	3	400	c.268A>C	c.(268-270)ACA>CCA	p.T90P		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	89							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)														---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238999895	238999895	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238999895G>T	uc010fyv.2	+	8	985	c.921G>T	c.(919-921)AAG>AAT	p.K307N	SCLY_uc002vxm.3_Missense_Mutation_p.K274N|SCLY_uc002vxn.2_Missense_Mutation_p.K307N|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.K213N	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	307					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)														---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239040248	239040248	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239040248G>A	uc002vxq.3	+	9	3003	c.2893G>A	c.(2893-2895)GCA>ACA	p.A965T	ESPNL_uc010fyw.2_Missense_Mutation_p.A661T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	965										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)														---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240061373	240061373	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240061373C>T	uc002vyk.3	-						HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc010fyy.2_Intron|HDAC4_uc010znz.1_Intron|HDAC4_uc010fzb.1_Intron	NM_006037	NP_006028			histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)														---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240921645	240921645	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240921645T>C	uc002vyn.2	-							NM_004544	NP_004535			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)													---	---	---	---
OR6B3	150681	broad.mit.edu	37	2	240985382	240985382	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240985382G>A	uc010zoe.1	-	1	108	c.108C>T	c.(106-108)CTC>CTT	p.L36L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)														---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241513717	241513717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241513717G>A	uc002vzi.2	+	5	1026	c.433G>A	c.(433-435)GAG>AAG	p.E145K	RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	145		Zinc; catalytic (By similarity).			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241689868	241689868	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241689868G>A	uc002vzy.2	-	26	2798	c.2652C>T	c.(2650-2652)CGC>CGT	p.R884R	KIF1A_uc010fzk.2_Silent_p.R985R|KIF1A_uc002vzz.1_Silent_p.R985R	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	884					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241724522	241724522	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241724522G>T	uc002vzy.2	-						KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron	NM_004321	NP_004312			axonal transport of synaptic vesicles						anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241992711	241992711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241992711A>G	uc002wah.1	+	16	2225	c.2225A>G	c.(2224-2226)CAC>CGC	p.H742R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	742	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242009574	242009574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242009574G>A	uc002wah.1	+	24	3547	c.3547G>A	c.(3547-3549)GGG>AGG	p.G1183R	SNED1_uc002wai.1_Missense_Mutation_p.G418R|SNED1_uc002waj.1_Missense_Mutation_p.G270R|SNED1_uc002wak.2_Missense_Mutation_p.G270R|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1183	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242021174	242021174	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242021174C>T	uc002wah.1	+	28	3999	c.3999C>T	c.(3997-3999)TGC>TGT	p.C1333C	SNED1_uc002wai.1_Silent_p.C535C|SNED1_uc002waj.1_Silent_p.C387C	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1333	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242122098	242122098	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242122098G>A	uc002wat.1	+	10	958	c.943G>A	c.(943-945)GAC>AAC	p.D315N	PPP1R7_uc002wau.1_Missense_Mutation_p.D272N|PPP1R7_uc002wav.1_Missense_Mutation_p.D241N	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	315	LRR 11.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)														---	---	---	---
BOK	666	broad.mit.edu	37	2	242501857	242501857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242501857G>A	uc002wbq.2	+	3	561	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	105					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)														---	---	---	---
D2HGDH	728294	broad.mit.edu	37	2	242690780	242690780	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242690780G>A	uc002wce.1	+	8	1290	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.A239T|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.A72T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	373					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)														---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242757513	242757513	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242757513C>T	uc010fzr.2	+	4	680	c.594C>T	c.(592-594)TTC>TTT	p.F198F	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.F198F|NEU4_uc002wcn.1_Silent_p.F210F|NEU4_uc002wco.1_Silent_p.F198F|NEU4_uc002wcp.1_Silent_p.F210F	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262436	1262436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1262436T>A	uc003boz.2	+	3	388	c.121T>A	c.(121-123)TTA>ATA	p.L41I	CNTN6_uc010hbo.2_Missense_Mutation_p.L36I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.L41I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	41	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1369239	1369239	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1369239A>T	uc003boz.2	+	10	1449	c.1182A>T	c.(1180-1182)ATA>ATT	p.I394I	CNTN6_uc011asj.1_Silent_p.I322I|CNTN6_uc003bpa.2_Silent_p.I394I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	394	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427478	1427478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1427478T>C	uc003boz.2	+	20	2968	c.2701T>C	c.(2701-2703)TCT>CCT	p.S901P	CNTN6_uc011asj.1_Missense_Mutation_p.S829P|CNTN6_uc003bpa.2_Missense_Mutation_p.S901P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	901					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1444125	1444125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1444125G>A	uc003boz.2	+	22	3208	c.2941G>A	c.(2941-2943)GGA>AGA	p.G981R	CNTN6_uc011asj.1_Missense_Mutation_p.G909R|CNTN6_uc003bpa.2_Missense_Mutation_p.G981R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	981	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3081933	3081933	+	Silent	SNP	G	A	A	rs150012927		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3081933G>A	uc003bpc.2	+	19	2597	c.2376G>A	c.(2374-2376)ACG>ACA	p.T792T	CNTN4_uc003bpb.1_Silent_p.T463T|CNTN4_uc003bpe.2_Silent_p.T464T|CNTN4_uc003bpf.2_Silent_p.T463T|CNTN4_uc003bpg.2_Silent_p.T48T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	792	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3118291	3118291	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3118291A>G	uc011ask.1	-	11	1659	c.1015T>C	c.(1015-1017)TTG>CTG	p.L339L	IL5RA_uc010hbq.2_Silent_p.L244L|IL5RA_uc010hbr.2_Silent_p.L130L|IL5RA_uc010hbs.2_Silent_p.L339L|IL5RA_uc011asl.1_Silent_p.L339L|IL5RA_uc010hbp.2_Silent_p.L50L	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	339	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192623	3192623	+	Nonsense_Mutation	SNP	G	A	A	rs121918368		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192623G>A	uc003bpq.2	-	11	1274	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	CRBN_uc003bpr.2_Nonsense_Mutation_p.R418*|CRBN_uc010hbw.2_Nonsense_Mutation_p.R375*	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	419	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
CRBN	51185	broad.mit.edu	37	3	3192649	3192649	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3192649G>A	uc003bpq.2	-	11	1248	c.1229C>T	c.(1228-1230)TCA>TTA	p.S410L	CRBN_uc003bpr.2_Missense_Mutation_p.S409L|CRBN_uc010hbw.2_Missense_Mutation_p.S366L	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	410	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887314	3887314	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887314G>A	uc003bpt.3	+	2	1750	c.989G>A	c.(988-990)CGC>CAC	p.R330H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	330	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3887411T>A	uc003bpt.3	+	2	1847	c.1086T>A	c.(1084-1086)AAT>AAA	p.N362K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	362	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3888210	3888210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3888210A>G	uc003bpt.3	+	2	2646	c.1885A>G	c.(1885-1887)AGT>GGT	p.S629G	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	629	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4558230	4558230	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4558230G>A	uc003bqa.2	+	3	403	c.55G>A	c.(55-57)GCG>ACG	p.A19T	ITPR1_uc010hbz.2_Missense_Mutation_p.A19T|ITPR1_uc010hca.1_Missense_Mutation_p.A19T|ITPR1_uc011asu.1_Missense_Mutation_p.A19T|ITPR1_uc010hcb.1_Missense_Mutation_p.A19T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	19	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4687267	4687267	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4687267G>A	uc003bqa.2	+	10	1058	c.710G>A	c.(709-711)GGT>GAT	p.G237D	ITPR1_uc010hbz.2_Missense_Mutation_p.G237D|ITPR1_uc010hca.1_Missense_Mutation_p.G237D|ITPR1_uc011asu.1_Missense_Mutation_p.G237D|ITPR1_uc010hcb.1_Missense_Mutation_p.G237D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	237	MIR 3.|Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4715020	4715020	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4715020T>C	uc003bqa.2	+	21	2753	c.2405T>C	c.(2404-2406)GTG>GCG	p.V802A	ITPR1_uc010hca.1_Missense_Mutation_p.V787A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.V787A	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	802	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4842131	4842131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4842131G>A	uc003bqa.2	+	51	7158	c.6810G>A	c.(6808-6810)TCG>TCA	p.S2270S	ITPR1_uc010hca.1_Silent_p.S2255S|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.S1240S|ITPR1_uc010hcc.1_Silent_p.S38S|ITPR1_uc011asv.1_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2318	Helical; (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903101	6903101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:6903101G>A	uc003bqm.2	+	1	300	c.26G>A	c.(25-27)CGC>CAC	p.R9H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R9H|GRM7_uc003bql.2_Missense_Mutation_p.R9H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	9					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---
LMCD1	29995	broad.mit.edu	37	3	8590426	8590426	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8590426A>G	uc003bqq.2	+	4	674	c.560A>G	c.(559-561)AAG>AGG	p.K187R	LMCD1_uc011atd.1_Missense_Mutation_p.K114R|LMCD1_uc011ate.1_Missense_Mutation_p.K75R|LMCD1_uc011atf.1_Missense_Mutation_p.K114R	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	187	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)														---	---	---	---
C3orf32	51066	broad.mit.edu	37	3	8673737	8673737	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8673737G>A	uc003bqu.2	-	5	578	c.332C>T	c.(331-333)ACT>ATT	p.T111I	C3orf32_uc003bqz.2_Missense_Mutation_p.T111I|C3orf32_uc003bqt.2_Missense_Mutation_p.T60I|C3orf32_uc011atg.1_Missense_Mutation_p.T133I|C3orf32_uc003bqv.2_Missense_Mutation_p.T60I|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.T111I	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	111										skin(1)	1																		---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794806	8794806	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794806G>A	uc003brc.2	-	4	1649	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	343	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794893	8794893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8794893C>T	uc003brc.2	-	4	1562	c.940G>A	c.(940-942)GTC>ATC	p.V314I		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	314	Helical; Name=7; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8809641	8809641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8809641A>G	uc003brc.2	-	3	855	c.233T>C	c.(232-234)ATG>ACG	p.M78T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	78	Helical; Name=2; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)													---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517581	9517581	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9517581A>G	uc003brt.2	+	23	4570	c.4135A>G	c.(4135-4137)AGG>GGG	p.R1379G	SETD5_uc003bru.2_Missense_Mutation_p.R1281G|SETD5_uc003brv.2_Missense_Mutation_p.R1268G|SETD5_uc010hck.2_Missense_Mutation_p.R861G|SETD5_uc003brx.2_Missense_Mutation_p.R1048G	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1379	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---
CPNE9	151835	broad.mit.edu	37	3	9746317	9746317	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9746317C>T	uc003bsd.2	+							NM_153635	NP_705899			copine-like protein											ovary(2)	2	Medulloblastoma(99;0.227)																	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9959109	9959109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9959109G>A	uc003bua.2	+	1	346	c.110G>A	c.(109-111)AGT>AAT	p.S37N	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_Intron|IL17RC_uc011ato.1_Intron|IL17RC_uc010hcs.2_Intron|IL17RC_uc003btz.2_Intron|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Intron|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Intron|IL17RC_uc011atq.1_Intron|IL17RC_uc003buc.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	37	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991568	9991568	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9991568C>T	uc003bul.2	-	2	362	c.232G>A	c.(232-234)GCC>ACC	p.A78T	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Missense_Mutation_p.A78T	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	78	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10091175	10091175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10091175G>A	uc003buw.2	+	17	1609	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	FANCD2_uc003bux.1_Missense_Mutation_p.A511T|FANCD2_uc003buy.1_Missense_Mutation_p.A511T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	511					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10130195	10130195	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10130195A>G	uc003buw.2	+	35	3607	c.3529A>G	c.(3529-3531)ATC>GTC	p.I1177V	FANCD2_uc003bux.1_Missense_Mutation_p.I1177V|FANCD2_uc003buy.1_Missense_Mutation_p.I1177V|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1177					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10264468	10264468	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10264468C>T	uc003bve.1	+	9	1238	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8																		---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10491114	10491114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10491114C>T	uc003bvt.2	-	2	553	c.114G>A	c.(112-114)CGG>CGA	p.R38R	ATP2B2_uc003bvv.2_Silent_p.R38R|ATP2B2_uc003bvw.2_Silent_p.R38R|ATP2B2_uc010hdp.2_Silent_p.R38R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	38	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11302082	11302082	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11302082C>T	uc010hdr.2	+	2	1701	c.1359C>T	c.(1357-1359)ACC>ACT	p.T453T	HRH1_uc010hds.2_Silent_p.T453T|HRH1_uc010hdt.2_Silent_p.T453T|HRH1_uc003bwb.3_Silent_p.T453T	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	453	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11402269	11402269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11402269T>C	uc003bwc.2	+						ATG7_uc003bwd.2_Intron|ATG7_uc011aum.1_Intron	NM_006395	NP_006386			APG7 autophagy 7-like isoform a						autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---
VGLL4	9686	broad.mit.edu	37	3	11643487	11643487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11643487G>T	uc003bwf.2	-	3	440	c.74C>A	c.(73-75)GCT>GAT	p.A25D	VGLL4_uc010hdx.1_Missense_Mutation_p.A31D|VGLL4_uc003bwg.2_Missense_Mutation_p.A30D|VGLL4_uc011aun.1_5'UTR	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)														---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12632428	12632428	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12632428T>G	uc003bxf.3	-	12	1654	c.1239A>C	c.(1237-1239)ACA>ACC	p.T413T	RAF1_uc011aut.1_Silent_p.T198T|RAF1_uc011auu.1_Silent_p.T331T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	413	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12641249	12641249	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12641249A>G	uc003bxf.3	-	10	1464	c.1049T>C	c.(1048-1050)ATG>ACG	p.M350T	RAF1_uc011aut.1_Missense_Mutation_p.M135T|RAF1_uc011auu.1_Missense_Mutation_p.M268T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	350	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12783956	12783956	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12783956C>A	uc003bxg.1	-	5	479	c.352G>T	c.(352-354)GGA>TGA	p.G118*	TMEM40_uc003bxh.1_Nonsense_Mutation_p.G88*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.G42*|TMEM40_uc011auv.1_Nonsense_Mutation_p.G134*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	118						integral to membrane					0																		---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12858333	12858333	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12858333T>C	uc003bxk.2	+	10	1951	c.1902T>C	c.(1900-1902)CTT>CTC	p.L634L	CAND2_uc003bxj.2_Silent_p.L541L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	634	HEAT 13.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12944311	12944311	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12944311G>A	uc003bxt.2	-	13	2818	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	IQSEC1_uc003bxu.3_Intron|IQSEC1_uc011auw.1_Missense_Mutation_p.R923C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	937					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12977116	12977116	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12977116T>C	uc003bxt.2	-	3	1451	c.1442A>G	c.(1441-1443)GAT>GGT	p.D481G	IQSEC1_uc003bxu.3_Missense_Mutation_p.D359G|IQSEC1_uc011auw.1_Missense_Mutation_p.D467G	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	481					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13363106	13363106	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13363106C>T	uc003bxv.1	-	36	5228	c.5145G>A	c.(5143-5145)CCG>CCA	p.P1715P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1715	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13370369	13370369	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13370369C>T	uc003bxv.1	-	31	4271	c.4188G>A	c.(4186-4188)GTG>GTA	p.V1396V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1396	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14545130	14545130	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14545130C>A	uc011avi.1	-	22	2917	c.2917G>T	c.(2917-2919)GAA>TAA	p.E973*	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Nonsense_Mutation_p.E504*	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	875					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
C3orf19	51244	broad.mit.edu	37	3	14708358	14708358	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14708358A>G	uc003byw.2	+	7	719	c.628A>G	c.(628-630)AGA>GGA	p.R210G	C3orf19_uc010hei.1_Missense_Mutation_p.R210G|C3orf19_uc010hej.2_Missense_Mutation_p.R115G	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	210											0																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14949150	14949150	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14949150A>G	uc003bzc.2	+	10	3378	c.3268A>G	c.(3268-3270)AAC>GAC	p.N1090D	FGD5_uc011avk.1_Missense_Mutation_p.N1090D|FGD5_uc003bzd.2_Missense_Mutation_p.N168D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1090					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960286	14960286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960286T>C	uc003bzc.2	+	13	3625	c.3515T>C	c.(3514-3516)GTG>GCG	p.V1172A	FGD5_uc011avk.1_Missense_Mutation_p.V1172A|FGD5_uc003bzd.2_Missense_Mutation_p.V250A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1172	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14960290	14960290	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14960290C>A	uc003bzc.2	+	13	3629	c.3519C>A	c.(3517-3519)CCC>CCA	p.P1173P	FGD5_uc011avk.1_Silent_p.P1173P|FGD5_uc003bzd.2_Silent_p.P251P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1173	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14967691	14967691	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14967691T>C	uc003bzc.2	+	18	4293	c.4183T>C	c.(4183-4185)TAC>CAC	p.Y1395H	FGD5_uc011avk.1_Intron|FGD5_uc003bzd.2_Missense_Mutation_p.Y473H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1395	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094115	15094115	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15094115C>T	uc003bzl.2	-	4	470	c.355G>A	c.(355-357)GAG>AAG	p.E119K	MRPS25_uc011avl.1_Silent_p.R89R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116040	15116040	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116040T>A	uc003bzm.1	-	14	2218	c.1604A>T	c.(1603-1605)GAG>GTG	p.E535V	ZFYVE20_uc010hek.1_Missense_Mutation_p.E535V	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	535	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15116197	15116197	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116197G>T	uc003bzm.1	-	14	2061	c.1447C>A	c.(1447-1449)CGC>AGC	p.R483S	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15127366	15127366	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15127366A>G	uc003bzm.1	-	6	1004	c.390_splice	c.e6+1	p.K130_splice	ZFYVE20_uc010hek.1_Splice_Site_p.K130_splice|ZFYVE20_uc011avn.1_Splice_Site_p.K130_splice	NM_022340	NP_071735			FYVE-finger-containing Rab5 effector protein						blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15726808	15726808	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15726808C>A	uc003caj.1	-	21	2367	c.2224G>T	c.(2224-2226)GCA>TCA	p.A742S	ANKRD28_uc003cai.1_Missense_Mutation_p.A588S|ANKRD28_uc011avz.1_Missense_Mutation_p.A588S|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.A772S|ANKRD28_uc003cam.2_Missense_Mutation_p.A775S	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	742	ANK 21.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15731544	15731544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15731544T>C	uc003caj.1	-	18	1998	c.1855A>G	c.(1855-1857)ACA>GCA	p.T619A	ANKRD28_uc003cai.1_Missense_Mutation_p.T465A|ANKRD28_uc011avz.1_Missense_Mutation_p.T465A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T649A|ANKRD28_uc003cam.2_Missense_Mutation_p.T652A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	619	ANK 18.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15753728	15753728	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15753728G>A	uc003caj.1	-	11	1245	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	ANKRD28_uc003cai.1_Missense_Mutation_p.R214C|ANKRD28_uc011avz.1_Missense_Mutation_p.R214C|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.R398C|ANKRD28_uc003cam.2_Missense_Mutation_p.R401C	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	368						nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16260950	16260950	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16260950G>T	uc003car.3	+	7	1908	c.1433G>T	c.(1432-1434)AGG>ATG	p.R478M	GALNTL2_uc003caq.3_Missense_Mutation_p.R211M|GALNTL2_uc003cas.3_Missense_Mutation_p.R8M	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	478	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16261424	16261424	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16261424A>C	uc003car.3	+	8	2007	c.1532A>C	c.(1531-1533)AAC>ACC	p.N511T	GALNTL2_uc003caq.3_Missense_Mutation_p.N244T|GALNTL2_uc003cas.3_Missense_Mutation_p.N41T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	511	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17053060	17053060	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17053060G>T	uc011awc.1	+	5	2303	c.2198G>T	c.(2197-2199)AGC>ATC	p.S733I	PLCL2_uc011awd.1_Missense_Mutation_p.S615I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	741	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17202688	17202688	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17202688A>G	uc003cbf.2	-	22	3820	c.2155T>C	c.(2155-2157)TCC>CCC	p.S719P	TBC1D5_uc010heu.2_Missense_Mutation_p.S306P|TBC1D5_uc010hev.2_Missense_Mutation_p.S741P|TBC1D5_uc003cbe.2_Missense_Mutation_p.S719P	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	719						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17549984	17549984	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17549984A>G	uc003cbf.2	-	3	1744	c.79T>C	c.(79-81)TAC>CAC	p.Y27H	TBC1D5_uc010hev.2_Missense_Mutation_p.Y27H|TBC1D5_uc003cbe.2_Missense_Mutation_p.Y27H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	27						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18456661	18456661	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18456661T>G	uc003cbh.2	-	5	2316	c.581A>C	c.(580-582)AAG>ACG	p.K194T	SATB1_uc003cbi.2_Missense_Mutation_p.K194T|SATB1_uc003cbj.2_Missense_Mutation_p.K194T	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	194	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19389261	19389261	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19389261T>C	uc003cbk.1	+	5	810	c.615T>C	c.(613-615)TCT>TCC	p.S205S	KCNH8_uc011awe.1_Silent_p.S205S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554610	19554610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19554610G>T	uc003cbk.1	+	13	2423	c.2228G>T	c.(2227-2229)GGA>GTA	p.G743V	KCNH8_uc010hex.1_Missense_Mutation_p.G204V	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	743	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19559491	19559491	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19559491T>A	uc003cbk.1	+	15	2739	c.2544T>A	c.(2542-2544)GAT>GAA	p.D848E	KCNH8_uc010hex.1_Missense_Mutation_p.D309E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19575180	19575180	+	Silent	SNP	A	G	G	rs145364018		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19575180A>G	uc003cbk.1	+	16	3108	c.2913A>G	c.(2911-2913)CAA>CAG	p.Q971Q	KCNH8_uc010hex.1_Silent_p.Q432Q	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	971	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19959879	19959879	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19959879G>T	uc003cbl.3	-	4	1218	c.1022C>A	c.(1021-1023)CCT>CAT	p.P341H	EFHB_uc003cbm.2_Missense_Mutation_p.P211H	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	341					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---
RAB5A	5868	broad.mit.edu	37	3	20017562	20017562	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20017562T>A	uc003cbn.2	+	4	874	c.339T>A	c.(337-339)AAT>AAA	p.N113K	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.N99K	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	113					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0																		---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20164248	20164248	+	Silent	SNP	C	T	T	rs149881135		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20164248C>T	uc003cbq.2	+	9	1811	c.1365C>T	c.(1363-1365)AAC>AAT	p.N455N		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	455					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
NKIRAS1	28512	broad.mit.edu	37	3	23952357	23952357	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23952357T>A	uc003ccj.2	-	3	441	c.39A>T	c.(37-39)TTA>TTT	p.L13F	NKIRAS1_uc003cck.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccl.2_Missense_Mutation_p.L13F|NKIRAS1_uc003ccm.2_Missense_Mutation_p.L13F	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	13	GTP (By similarity).				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0																		---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24003739	24003739	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24003739T>A	uc003ccs.2	+	5	1108	c.789T>A	c.(787-789)GAT>GAA	p.D263E	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.D188E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3																		---	---	---	---
THRB	7068	broad.mit.edu	37	3	24193924	24193924	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24193924G>C	uc003ccx.3	-	6	690	c.341C>G	c.(340-342)GCC>GGC	p.A114G	THRB_uc010hfe.2_Missense_Mutation_p.A114G|THRB_uc003ccy.3_Missense_Mutation_p.A114G|THRB_uc003ccz.3_Missense_Mutation_p.A109G|THRB_uc003cdc.2_Missense_Mutation_p.A109G|THRB_uc003cdd.2_Missense_Mutation_p.A109G|THRB_uc003cde.1_Missense_Mutation_p.A109G|THRB_uc003cda.1_Missense_Mutation_p.A129G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	114	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25215993	25215993	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25215993A>T	uc011awl.1	+	1	171	c.105A>T	c.(103-105)GGA>GGT	p.G35G		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	35	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
RARB	5915	broad.mit.edu	37	3	25502818	25502818	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25502818T>A	uc011awl.1	+	2	379	c.313T>A	c.(313-315)TGT>AGT	p.C105S	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.C98S	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	105	NR C4-type.|Nuclear receptor.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25641012	25641012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25641012G>A	uc003cdj.2	-	35	4609	c.4609C>T	c.(4609-4611)CGA>TGA	p.R1537*	TOP2B_uc011awm.1_Nonsense_Mutation_p.R394*|TOP2B_uc010hff.1_Nonsense_Mutation_p.R403*	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1542					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685185	25685185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685185C>T	uc011awn.1	-	3	374	c.331G>A	c.(331-333)GTT>ATT	p.V111I	TOP2B_uc003cdj.2_Missense_Mutation_p.V106I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	111					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25685220	25685220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25685220A>G	uc011awn.1	-	3	339	c.296T>C	c.(295-297)GTG>GCG	p.V99A	TOP2B_uc003cdj.2_Missense_Mutation_p.V94A	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	99					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25778951	25778951	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25778951T>G	uc003cdl.2	-						NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Intron|NGLY1_uc011awo.1_Intron|NGLY1_uc003cdk.2_Intron	NM_018297	NP_060767			N-glycanase 1 isoform 1						glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27204208	27204208	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27204208T>A	uc010hfk.2	-	9	1018	c.789A>T	c.(787-789)GGA>GGT	p.G263G	NEK10_uc003cds.1_Silent_p.G348G|NEK10_uc010hfj.2_Silent_p.G263G			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	951							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27243079	27243079	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27243079A>G	uc010hfk.2	-						NEK10_uc003cds.1_Intron|NEK10_uc010hfj.2_Intron					RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28454686	28454686	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28454686T>C	uc003ceh.2	+	3	295	c.127T>C	c.(127-129)TTG>CTG	p.L43L	ZCWPW2_uc003cei.2_Silent_p.L43L	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	43	CW-type.						zinc ion binding			ovary(2)	2																		---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28566019	28566019	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28566019T>C	uc003ceh.2	+	10	1079	c.911T>C	c.(910-912)TTA>TCA	p.L304S	ZCWPW2_uc003cei.2_Missense_Mutation_p.L304S|ZCWPW2_uc010hfo.2_Missense_Mutation_p.L109S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	304							zinc ion binding			ovary(2)	2																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30691806	30691806	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30691806A>G	uc003ceo.2	+	3	690	c.308A>G	c.(307-309)GAC>GGC	p.D103G	TGFBR2_uc003cen.2_Missense_Mutation_p.D128G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	103	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713436	30713436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30713436G>A	uc003ceo.2	+	4	1143	c.761G>A	c.(760-762)CGC>CAC	p.R254H	TGFBR2_uc003cen.2_Missense_Mutation_p.R279H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	254	Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---
STT3B	201595	broad.mit.edu	37	3	31621492	31621492	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31621492T>C	uc011axe.1	+	3	615	c.615T>C	c.(613-615)ATT>ATC	p.I205I	STT3B_uc010hft.1_Silent_p.I205I|STT3B_uc003cer.1_Silent_p.I205I	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	205	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0																		---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710251	31710251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31710251T>C	uc003cev.2	-	11	2360	c.1979A>G	c.(1978-1980)AAT>AGT	p.N660S	OSBPL10_uc003ceu.1_Missense_Mutation_p.N417S|OSBPL10_uc011axf.1_Missense_Mutation_p.N596S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	660					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483359	32483359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483359G>A	uc003cey.1	+	2	423	c.187G>A	c.(187-189)GTG>ATG	p.V63M	CMTM7_uc003cez.1_Missense_Mutation_p.V63M	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	63	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483389	32483389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32483389G>A	uc003cey.1	+	2	453	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CMTM7_uc003cez.1_Missense_Mutation_p.A73T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	73	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32493939	32493939	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32493939A>C	uc003cey.1	+	4	724	c.488A>C	c.(487-489)AAG>ACG	p.K163T	CMTM7_uc003cez.1_Missense_Mutation_p.K130T	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	163	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0																		---	---	---	---
CNOT10	25904	broad.mit.edu	37	3	32769230	32769230	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32769230T>C	uc003cfc.1	+	10	1338	c.1083T>C	c.(1081-1083)TGT>TGC	p.C361C	CNOT10_uc011axi.1_Silent_p.C133C|CNOT10_uc003cfd.1_Silent_p.C360C|CNOT10_uc003cfe.1_Silent_p.C361C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Silent_p.C421C|CNOT10_uc010hfw.1_Silent_p.C56C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	361					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859684	32859684	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32859686	32859686	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32859686G>A	uc003cff.2	+	1	177	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
FBXL2	25827	broad.mit.edu	37	3	33425581	33425581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33425581G>A	uc003cfp.2	+	14	1123	c.1052G>A	c.(1051-1053)TGC>TAC	p.C351Y	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C246Y|FBXL2_uc011axp.1_Missense_Mutation_p.C267Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	351	LRR 12.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1																		---	---	---	---
UBP1	7342	broad.mit.edu	37	3	33450175	33450175	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33450175C>T	uc003cfq.3	-						UBP1_uc003cfr.3_Intron|UBP1_uc010hga.2_Intron	NM_014517	NP_055332			upstream binding protein 1 (LBP-1a) isoform a						negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33617771	33617771	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33617771A>G	uc003cfu.2	-						CLASP2_uc003cfs.2_5'Flank|CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc011axt.1_Intron	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33725942	33725942	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33725942C>T	uc003cfu.2	-	6	907	c.553G>A	c.(553-555)GAT>AAT	p.D185N	CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	185										ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866819	33866819	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33905536	33905536	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33905536C>A	uc003cfx.2	+	16	2314	c.2159C>A	c.(2158-2160)CCT>CAT	p.P720H	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P725H|PDCD6IP_uc011axw.1_Missense_Mutation_p.P501H	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	720	Pro-rich.|Interaction with EIAV p9.|Interaction with TSG101.|Self-association.			P->L: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6.	apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35724392	35724392	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35724392T>A	uc003cgb.2	+						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cfz.2_Intron|ARPP21_uc003cgc.2_Intron|ARPP21_uc003cgd.2_Intron|ARPP21_uc011axx.1_Intron|ARPP21_uc003cge.2_Intron	NM_016300	NP_057384			cyclic AMP-regulated phosphoprotein, 21 kD							cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35780864	35780864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35780864G>A	uc003cgb.2	+	17	1964	c.1700G>A	c.(1699-1701)GGG>GAG	p.G567E	ARPP21_uc003cga.2_Missense_Mutation_p.G548E|ARPP21_uc011axy.1_Missense_Mutation_p.G568E|ARPP21_uc003cgf.2_Missense_Mutation_p.G403E|ARPP21_uc003cgg.2_Missense_Mutation_p.G90E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	567	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36422210	36422210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36422210G>A	uc003cgh.1	+	1	114	c.75G>A	c.(73-75)CCG>CCA	p.P25P	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.P25P	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
STAC	6769	broad.mit.edu	37	3	36547271	36547271	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36547271A>G	uc003cgh.1	+	8	904	c.865A>G	c.(865-867)ACC>GCC	p.T289A	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.T228A	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	289	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36779103	36779103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36779103C>T	uc003cgi.2	-	2	1539	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	350						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872603	36872603	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36872603A>G	uc003cgj.2	-	12	6991	c.6689T>C	c.(6688-6690)CTA>CCA	p.L2230P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2780					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36873305C>T	uc003cgj.2	-	12	6289	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36893684	36893684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36893684G>A	uc003cgj.2	-	4	3222	c.2920C>T	c.(2920-2922)CGA>TGA	p.R974*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1524					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034495	37034495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37034495C>T	uc003cgk.2	-	1	301	c.74G>A	c.(73-75)CGT>CAT	p.R25H	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	25						endoplasmic reticulum					0																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37095362	37095362	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37095362C>T	uc003cgp.2	-	29	2569	c.2146G>A	c.(2146-2148)GCA>ACA	p.A716T	MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.A498T|LRRFIP2_uc003cgr.2_Missense_Mutation_p.A419T|LRRFIP2_uc003cgs.3_Missense_Mutation_p.A419T|LRRFIP2_uc003cgt.3_Missense_Mutation_p.A395T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	716					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37107356	37107356	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37107356A>G	uc003cgp.2	-	24	2067	c.1644T>C	c.(1642-1644)ACT>ACC	p.T548T	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Silent_p.T330T|LRRFIP2_uc003cgr.2_Silent_p.T251T|LRRFIP2_uc003cgs.3_Silent_p.T251T|LRRFIP2_uc003cgt.3_Silent_p.T227T	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	548					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37365710	37365710	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37365710A>C	uc003cgv.2	+	14	2637	c.2333A>C	c.(2332-2334)CAT>CCT	p.H778P	GOLGA4_uc010hgr.1_Missense_Mutation_p.H339P|GOLGA4_uc003cgw.2_Missense_Mutation_p.H800P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.H659P	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	778	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37826552	37826552	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37826552A>G	uc003chd.2	+	26	2925	c.2872A>G	c.(2872-2874)AAC>GAC	p.N958D		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	958	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37845374	37845374	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37845374G>A	uc003chd.2	+	27	3003	c.2950G>A	c.(2950-2952)GCC>ACC	p.A984T		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	984	Helical; (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38042991	38042991	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38042991G>T	uc003chj.2	+	12	1513	c.1227G>T	c.(1225-1227)AAG>AAT	p.K409N	VILL_uc003chl.2_Missense_Mutation_p.K409N|VILL_uc010hgu.2_Missense_Mutation_p.K239N	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	409	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
VILL	50853	broad.mit.edu	37	3	38048554	38048554	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38048554C>T	uc003chj.2	+	20					VILL_uc003chl.2_3'UTR	NM_015873	NP_056957			villin-like protein						actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38080868	38080868	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38080868A>G	uc003cho.1	+	1	173	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	DLEC1_uc003chp.1_Missense_Mutation_p.Y51C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y51C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	51					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38125678	38125678	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38125678G>A	uc003cho.1	+	7	1224	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	DLEC1_uc003chp.1_Silent_p.T401T|DLEC1_uc010hgv.1_Silent_p.T401T|DLEC1_uc010hgw.1_Silent_p.T100T|DLEC1_uc003chq.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	401					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38153716	38153716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38153716T>C	uc003cho.1	+	25	3551	c.3530T>C	c.(3529-3531)ATG>ACG	p.M1177T	DLEC1_uc003chp.1_Missense_Mutation_p.M1177T|DLEC1_uc010hgv.1_Missense_Mutation_p.M1180T|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1177					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158779	38158779	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38158779C>T	uc003cho.1	+	31	4407	c.4386C>T	c.(4384-4386)TAC>TAT	p.Y1462Y	DLEC1_uc003chp.1_Silent_p.Y1462Y|DLEC1_uc010hgv.1_Silent_p.Y1465Y|DLEC1_uc003chr.1_Silent_p.Y533Y|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_Translation_Start_Site	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1462					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38173487	38173487	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38173487C>T	uc003cht.2	-	4	540	c.333G>A	c.(331-333)CCG>CCA	p.P111P	ACAA1_uc003chu.2_Silent_p.P111P|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Silent_p.P111P|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)												OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38292940	38292940	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38292940C>T	uc003chy.2	+	16	1764	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	OXSR1_uc010hhb.2_Silent_p.V408V	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	474					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38415972	38415972	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38415972A>T	uc003cic.2	+	11	976	c.867A>T	c.(865-867)AGA>AGT	p.R289S	XYLB_uc011ayp.1_Missense_Mutation_p.R152S|XYLB_uc003cid.1_Missense_Mutation_p.R211S	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	289					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)														---	---	---	---
ACVR2B	93	broad.mit.edu	37	3	38523762	38523762	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38523762G>A	uc003cif.2	+	9	1172	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	ACVR2B_uc003cig.2_Missense_Mutation_p.R174H	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	383	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)														---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38591817	38591817	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38591817C>T	uc003cio.2	-	28	6240	c.6046G>A	c.(6046-6048)GTG>ATG	p.V2016M	SCN5A_uc003cin.2_Missense_Mutation_p.V2015M|SCN5A_uc003cil.3_Missense_Mutation_p.V2016M|SCN5A_uc010hhi.2_Missense_Mutation_p.V1998M|SCN5A_uc010hhk.2_Missense_Mutation_p.V1983M|SCN5A_uc011ayr.1_Missense_Mutation_p.V1962M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2016					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38596019	38596019	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38596019A>T	uc003cio.2	-	27	4758	c.4564T>A	c.(4564-4566)TTC>ATC	p.F1522I	SCN5A_uc003cin.2_Missense_Mutation_p.F1521I|SCN5A_uc003cil.3_Missense_Mutation_p.F1522I|SCN5A_uc010hhi.2_Missense_Mutation_p.F1504I|SCN5A_uc010hhk.2_Missense_Mutation_p.F1521I|SCN5A_uc011ayr.1_Missense_Mutation_p.F1468I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38649682	38649682	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38649682T>C	uc003cio.2	-	8	1152	c.958A>G	c.(958-960)ACC>GCC	p.T320A	SCN5A_uc003cin.2_Missense_Mutation_p.T320A|SCN5A_uc003cil.3_Missense_Mutation_p.T320A|SCN5A_uc010hhi.2_Missense_Mutation_p.T320A|SCN5A_uc010hhk.2_Missense_Mutation_p.T320A|SCN5A_uc011ayr.1_Missense_Mutation_p.T320A|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	320					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38753796	38753796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38753796A>G	uc003ciq.2	-	22	3945	c.3945T>C	c.(3943-3945)GAT>GAC	p.D1315D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1315	III.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798267	38798267	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798267G>C	uc003ciq.2	-	9	1188	c.1188C>G	c.(1186-1188)GTC>GTG	p.V396V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	396	Helical; Name=S6 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38908837	38908837	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38908837T>A	uc011ays.1	-	23	4125	c.3926A>T	c.(3925-3927)GAC>GTC	p.D1309V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1309	III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38951553	38951553	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38951553T>A	uc011ays.1	-							NM_014139	NP_054858			sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
GORASP1	64689	broad.mit.edu	37	3	39144266	39144266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39144266A>G	uc003ciw.1	-	3	349	c.251T>C	c.(250-252)GTG>GCG	p.V84A	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	84					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228564	39228564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39228564G>A	uc003cjk.1	-	2	2594	c.2373C>T	c.(2371-2373)CTC>CTT	p.L791L	XIRP1_uc003cji.2_Silent_p.L791L|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	791							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230227	39230227	+	Missense_Mutation	SNP	G	A	A	rs35083720		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230227G>A	uc003cjk.1	-	2	931	c.710C>T	c.(709-711)ACG>ATG	p.T237M	XIRP1_uc003cji.2_Missense_Mutation_p.T237M|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230238	39230238	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230238C>A	uc003cjk.1	-	2	920	c.699G>T	c.(697-699)AAG>AAT	p.K233N	XIRP1_uc003cji.2_Missense_Mutation_p.K233N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	233	Xin 5.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307504	39307504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39307504A>G	uc003cjl.2	-	2	589	c.497T>C	c.(496-498)ATG>ACG	p.M166T		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	166	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)														---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39433000	39433000	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39433000C>T	uc003cjo.2	+	4	746	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	115					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40456320	40456320	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40456320A>G	uc003ckd.3	+	6	678	c.586A>G	c.(586-588)AAT>GAT	p.N196D	ENTPD3_uc010hhy.2_Missense_Mutation_p.N196D|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	196	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)														---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41279570	41279570	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41279570A>T	uc010hia.1	+						CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895			beta-catenin						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41607557	41607557	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41607557A>G	uc003ckv.3	-	32	3386	c.3185T>C	c.(3184-3186)GTT>GCT	p.V1062A		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1062	HEAT 3.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242337	42242337	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42242337A>G	uc003cky.2	+	12	1434	c.1218A>G	c.(1216-1218)GTA>GTG	p.V406V	TRAK1_uc011azh.1_Silent_p.V406V|TRAK1_uc011azi.1_Silent_p.V406V|TRAK1_uc003ckz.3_Silent_p.V332V|TRAK1_uc011azj.1_Silent_p.V332V|TRAK1_uc003cla.2_Silent_p.V348V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	406	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42576474	42576474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42576474G>A	uc003clf.2	+	11	1142	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	VIPR1_uc011azl.1_Missense_Mutation_p.A292T|VIPR1_uc011azm.1_Missense_Mutation_p.A130T|VIPR1_uc011azn.1_Missense_Mutation_p.A313T|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	340	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42577688	42577688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42577688G>A	uc003clf.2	+	13	1413	c.1289G>A	c.(1288-1290)TGC>TAC	p.C430Y	VIPR1_uc011azl.1_Missense_Mutation_p.C382Y|VIPR1_uc011azm.1_Missense_Mutation_p.C220Y|VIPR1_uc011azn.1_Missense_Mutation_p.C403Y|VIPR1_uc003clg.2_Missense_Mutation_p.C75Y	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	430	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42672811	42672811	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42672811A>G	uc003clo.2	+						NKTR_uc003clm.1_Intron|NKTR_uc003clp.2_Intron|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Intron|NKTR_uc003clr.1_Intron|NKTR_uc003cls.2_Intron	NM_005385	NP_005376			natural killer-tumor recognition sequence						protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679032	42679032	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42679032C>T	uc003clo.2	+	13	1983	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	NKTR_uc003clm.1_Silent_p.D359D|NKTR_uc003clp.2_Silent_p.D359D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.D502D|NKTR_uc003clr.1_Silent_p.D359D|NKTR_uc003cls.2_Silent_p.D312D	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	612					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42916705	42916705	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42916705A>T	uc003cmh.2	-	1	929	c.604T>A	c.(604-606)TTA>ATA	p.L202I	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.L202I	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	202					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42917312	42917312	+	Translation_Start_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42917312T>C	uc003cmh.2	-	1	322	c.-3A>G	c.(-5--1)ATAGC>ATGGC		CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Translation_Start_Site	NM_004391	NP_004382			cytochrome P450, family 8, subfamily B,						bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)														---	---	---	---
ZNF662	389114	broad.mit.edu	37	3	42956105	42956105	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42956105T>C	uc003cmi.2	+	5	892	c.540T>C	c.(538-540)GGT>GGC	p.G180G	ZNF662_uc003cmk.2_Silent_p.G206G|ZNF662_uc003cmj.2_Silent_p.G72G	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43344905	43344905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43344905G>A	uc003cms.3	+	3	542	c.210G>A	c.(208-210)GTG>GTA	p.V70V	SNRK_uc003cmt.3_Silent_p.V70V|SNRK_uc010hik.2_Silent_p.V70V|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Silent_p.V70V	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	70	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
SNRK	54861	broad.mit.edu	37	3	43389110	43389110	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43389110G>A	uc003cms.3	+	7	1691	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E	SNRK_uc003cmt.3_Silent_p.E453E|SNRK_uc010hik.2_Silent_p.E453E|SNRK_uc011azr.1_Silent_p.E247E	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	453					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)														---	---	---	---
ZNF445	353274	broad.mit.edu	37	3	44492035	44492035	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44492035T>A	uc003cnf.2	-	6	1072	c.724A>T	c.(724-726)ACC>TCC	p.T242S	ZNF445_uc011azv.1_Missense_Mutation_p.T230S|ZNF445_uc011azw.1_Missense_Mutation_p.T242S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	242	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)														---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685375	44685375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44685375T>G	uc003cnm.2	+	6	2959	c.2753T>G	c.(2752-2754)GTT>GGT	p.V918G	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	918	C2H2-type 20.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44692631	44692631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44692631A>G	uc003cnq.2	+	2	293	c.72A>G	c.(70-72)GAA>GAG	p.E24E	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	T	T	rs148645131		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44701410C>T	uc003cnq.2	+	4	1776	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	ZNF35_uc003cnr.2_Nonsense_Mutation_p.R359*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	519	C2H2-type 11.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)														---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45527224	45527224	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45527224G>T	uc003cop.1	+	11	1244	c.1059G>T	c.(1057-1059)CAG>CAT	p.Q353H	LARS2_uc010hit.1_Missense_Mutation_p.Q310H	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	353					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)													---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	45972594	45972594	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45972594T>C	uc003cpb.3	-	16	4426	c.4220A>G	c.(4219-4221)GAG>GGG	p.E1407G	FYCO1_uc011bal.1_Missense_Mutation_p.E1427G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1407	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46000895	46000895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46000895G>A	uc003cpb.3	-	12	3783	c.3577C>T	c.(3577-3579)CAC>TAC	p.H1193Y	FYCO1_uc011bal.1_Missense_Mutation_p.H1193Y	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1193	FYVE-type.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46005857	46005857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46005857C>A	uc003cpb.3	-	10	3446	c.3240G>T	c.(3238-3240)GAG>GAT	p.E1080D	FYCO1_uc011bal.1_Missense_Mutation_p.E1080D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1080	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46008779	46008779	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46008779C>G	uc003cpb.3	-	8	2253	c.2047G>C	c.(2047-2049)GCT>CCT	p.A683P	FYCO1_uc011bal.1_Missense_Mutation_p.A683P	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	683	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46307353	46307353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46307353A>G	uc003cpg.1	+	4	1247	c.704A>G	c.(703-705)TAC>TGC	p.Y235C	CCR3_uc003cpi.1_Missense_Mutation_p.Y235C|CCR3_uc003cpj.1_Missense_Mutation_p.Y235C|CCR3_uc003cpk.1_Missense_Mutation_p.Y256C|CCR3_uc010hjb.1_Missense_Mutation_p.Y253C|CCR3_uc003cpl.1_Missense_Mutation_p.Y268C	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	235	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)														---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399365	46399365	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46399365T>A	uc003cpn.3	+	2	832	c.347T>A	c.(346-348)TTC>TAC	p.F116Y	CCR2_uc003cpm.3_Missense_Mutation_p.F116Y	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	116	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)														---	---	---	---
LTF	4057	broad.mit.edu	37	3	46484968	46484968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46484968C>T	uc003cpq.2	-	13	1657	c.1619G>A	c.(1618-1620)AGC>AAC	p.S540N	LTF_uc003fzr.2_Missense_Mutation_p.S496N|LTF_uc010hjh.2_Missense_Mutation_p.S538N|LTF_uc003cpr.2_Missense_Mutation_p.S527N	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	540	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)													---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46560562	46560562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46560562G>A	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46586530	46586530	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46586530A>G	uc010hji.2	-						LRRC2_uc003cpu.3_Intron	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46729723	46729723	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46729723C>T	uc003cqa.1	-	3	357	c.167G>A	c.(166-168)AGC>AAC	p.S56N	ALS2CL_uc003cqb.1_Missense_Mutation_p.S56N|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	56					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47037074	47037074	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47037074G>A	uc003cqp.2	+	13	2028	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NBEAL2_uc003cqq.1_Missense_Mutation_p.A583T|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	617							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47042782	47042782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47042782A>G	uc003cqp.2	+	29	4677	c.4498A>G	c.(4498-4500)ATG>GTG	p.M1500V	NBEAL2_uc010hjm.1_Missense_Mutation_p.M877V|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1500							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47043945	47043945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47043945G>A	uc003cqp.2	+	32	5415	c.5236G>A	c.(5236-5238)GAC>AAC	p.D1746N	NBEAL2_uc010hjm.1_Missense_Mutation_p.D1123N|NBEAL2_uc010hjn.1_Missense_Mutation_p.D142N|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1746							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47288960	47288960	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47288960C>T	uc010hjp.2	-	13	1740	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	KIF9_uc003cqx.2_Missense_Mutation_p.R379H|KIF9_uc003cqy.2_Missense_Mutation_p.R379H|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	379	Potential.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47315142	47315142	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47315142A>G	uc010hjp.2	-	5	870	c.266T>C	c.(265-267)ATC>ACC	p.I89T	KIF9_uc003cqx.2_Missense_Mutation_p.I89T|KIF9_uc003cqy.2_Missense_Mutation_p.I89T|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	89	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47449865	47449865	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47449865C>T	uc003crf.1	+	15	1311	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	PTPN23_uc011baw.1_Silent_p.P370P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P275P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	405	TPR 2.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.P405P(1)		breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454597	47454597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454597G>A	uc003crf.1	+	25	4929	c.4833G>A	c.(4831-4833)GGG>GGA	p.G1611G	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.G1481G|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1611					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47454675	47454675	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47454675A>G	uc003crf.1	+	25	5007	c.4911A>G	c.(4909-4911)TGA>TGG	p.*1637W	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Nonstop_Mutation_p.*1507W|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1637					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47456380	47456380	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47456380G>A	uc003crh.1	-	20	3498	c.3243C>T	c.(3241-3243)CCC>CCT	p.P1081P	SCAP_uc011baz.1_Silent_p.P825P|SCAP_uc003crg.2_Silent_p.P688P|uc003cri.2_RNA	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1081	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 4.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)														---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47618735	47618735	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47618735C>T	uc003crp.3	-	2	957	c.781G>A	c.(781-783)GAT>AAT	p.D261N	CSPG5_uc003crn.2_Missense_Mutation_p.D123N|CSPG5_uc003cro.3_Missense_Mutation_p.D261N|CSPG5_uc011bbb.1_Missense_Mutation_p.D123N	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	261	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47719791	47719791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47719791A>G	uc003crq.2	-	16	1586	c.1468T>C	c.(1468-1470)TAT>CAT	p.Y490H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.Y381H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	490	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47787474	47787474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47787474A>G	uc003crq.2	-	3	443	c.325T>C	c.(325-327)TTC>CTC	p.F109L	SMARCC1_uc011bbd.1_5'UTR	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	109					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889772	47889772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47889772C>T	uc003cru.2	+	15	2815	c.2389C>T	c.(2389-2391)CGA>TGA	p.R797*	DHX30_uc003crt.2_Nonsense_Mutation_p.R758*|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	797	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47890735	47890735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47890735C>A	uc003cru.2	+	19	3409	c.2983C>A	c.(2983-2985)CCC>ACC	p.P995T	DHX30_uc003crt.2_Missense_Mutation_p.P956T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	995						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200451	48200451	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48200451C>T	uc003csh.1	-	15	1923	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	CDC25A_uc003csi.1_Missense_Mutation_p.R480H	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	520				R->L: Abrogates binding to CCNB1; when associated with L-514.	cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48205845	48205845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48205845A>G	uc003csh.1	-	13	1638	c.1274T>C	c.(1273-1275)GTC>GCC	p.V425A	CDC25A_uc003csi.1_Missense_Mutation_p.V385A	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	425	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
CAMP	820	broad.mit.edu	37	3	48266137	48266137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48266137G>T	uc003csj.1	+	3	494	c.354G>T	c.(352-354)AGG>AGT	p.R118S		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				upper_aerodigestive_tract(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
NME6	10201	broad.mit.edu	37	3	48336637	48336637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48336637G>A	uc003csp.3	-	5	373	c.322C>T	c.(322-324)CGC>TGC	p.R108C	NME6_uc003cso.2_Missense_Mutation_p.R116C|NME6_uc011bbh.1_Silent_p.H94H|NME6_uc010hju.2_Missense_Mutation_p.R10C|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	108					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48453266	48453266	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48453266C>T	uc003csw.2	-						PLXNB1_uc003cst.2_Intron|PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Intron	NM_002673	NP_002664			plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48456404	48456404	+	Missense_Mutation	SNP	C	T	T	rs149435305	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48456404C>T	uc003csw.2	-	21	4283	c.4013G>A	c.(4012-4014)CGC>CAC	p.R1338H	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1155H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1338H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_Missense_Mutation_p.R46H	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1338	Extracellular (Potential).|IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48615911	48615911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48615911C>T	uc003ctz.2	-	63	5463	c.5462G>A	c.(5461-5463)GGC>GAC	p.G1821D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1821	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
UQCRC1	7384	broad.mit.edu	37	3	48638105	48638105	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48638105C>T	uc003cub.1	-						UQCRC1_uc003cua.1_Intron|UQCRC1_uc003cuc.1_Intron|UQCRC1_uc003cud.1_Intron	NM_003365	NP_003356			ubiquinol-cytochrome c reductase core protein I						aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)													---	---	---	---
TMEM89	440955	broad.mit.edu	37	3	48658279	48658279	+	Missense_Mutation	SNP	C	T	T	rs150843832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48658279C>T	uc011bbo.1	-	2	476	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	159	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48697789	48697789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48697789T>A	uc003cul.2	-	1	2560	c.2279A>T	c.(2278-2280)GAG>GTG	p.E760V	CELSR3_uc003cuf.1_Missense_Mutation_p.E830V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48717233	48717233	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48717233C>T	uc003cun.2	-	7	1444	c.1350_splice	c.e7+1	p.M450_splice	NCKIPSD_uc003cum.2_Splice_Site_p.M443_splice	NM_016453	NP_057537			NCK interacting protein with SH3 domain isoform						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48725700	48725700	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48725700G>A	uc003cup.2	-	6					NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_3'UTR	NM_001005909	NP_001005909			inositol hexaphosphate kinase 2 isoform a						negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0																		---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	48965110	48965110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48965110T>C	uc003cvb.2	+	3	431	c.119T>C	c.(118-120)GTG>GCG	p.V40A	ARIH2_uc003cvc.2_Missense_Mutation_p.V40A|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Missense_Mutation_p.V40A|ARIH2_uc003cvd.1_Missense_Mutation_p.V40A|ARIH2_uc003cve.1_Missense_Mutation_p.V40A	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	40	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49017838	49017838	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49017838T>A	uc003cvb.2	+	13	1478	c.1166T>A	c.(1165-1167)ATT>AAT	p.I389N	ARIH2_uc003cvc.2_Missense_Mutation_p.I389N|ARIH2_uc003cvf.2_Missense_Mutation_p.I307N|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	389	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49049542	49049542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49049542C>T	uc003cvj.2	+	2	803	c.665C>T	c.(664-666)GCC>GTC	p.A222V	WDR6_uc011bbx.1_Missense_Mutation_p.A93V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A166V|WDR6_uc011bbz.1_Missense_Mutation_p.A141V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	192	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)														---	---	---	---
IMPDH2	3615	broad.mit.edu	37	3	49062235	49062235	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49062235A>G	uc003cvt.2	-	12	1388	c.1296T>C	c.(1294-1296)AGT>AGC	p.S432S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	432					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)													---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148577	49148577	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148577A>G	uc003cwd.1	-	22	3203	c.3042T>C	c.(3040-3042)GGT>GGC	p.G1014G	USP19_uc003cwa.2_Silent_p.G822G|USP19_uc003cvz.3_Silent_p.G1117G|USP19_uc011bcg.1_Silent_p.G1105G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G772G|USP19_uc011bch.1_Silent_p.G1115G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1014	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
USP19	10869	broad.mit.edu	37	3	49148735	49148735	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49148735A>C	uc003cwd.1	-	21	3133	c.2972T>G	c.(2971-2973)ATC>AGC	p.I991S	USP19_uc003cwa.2_Missense_Mutation_p.I799S|USP19_uc003cvz.3_Missense_Mutation_p.I1094S|USP19_uc011bcg.1_Missense_Mutation_p.I1082S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.I749S|USP19_uc011bch.1_Missense_Mutation_p.I1092S	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	991	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49159770	49159770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49159770A>G	uc003cwe.2	-	28	4906	c.4607T>C	c.(4606-4608)GTG>GCG	p.V1536A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1536	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49163223	49163223	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49163223G>T	uc003cwe.2	-	18	2744	c.2445C>A	c.(2443-2445)CTC>CTA	p.L815L	LAMB2_uc003cwf.1_Silent_p.L815L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	815	Laminin EGF-like 6.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
CCDC71	64925	broad.mit.edu	37	3	49201174	49201174	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49201174A>G	uc003cwg.3	-	2	606	c.468T>C	c.(466-468)GGT>GGC	p.G156G		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	156										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49293631	49293631	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49293631A>C	uc003cwk.2	+	10	1088	c.701A>C	c.(700-702)CAG>CCG	p.Q234P	CCDC36_uc011bck.1_Missense_Mutation_p.Q234P	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	234	Potential.									ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49331880	49331880	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49331880T>G	uc003cwq.2	-	14	1922	c.1843A>C	c.(1843-1845)ACC>CCC	p.T615P	USP4_uc003cwo.2_Missense_Mutation_p.T327P|USP4_uc003cwp.2_Missense_Mutation_p.T345P|USP4_uc003cwr.2_Missense_Mutation_p.T568P	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	615					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689428	49689428	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689428C>T	uc003cxe.3	+	5	2553	c.2439C>T	c.(2437-2439)GAC>GAT	p.D813D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	813					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693164	49693164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693164C>T	uc003cxe.3	+	5	6289	c.6175C>T	c.(6175-6177)CGG>TGG	p.R2059W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2059					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693315	49693315	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693315A>T	uc003cxe.3	+	5	6440	c.6326A>T	c.(6325-6327)GAC>GTC	p.D2109V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2109					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49698225	49698225	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49698225A>T	uc003cxe.3	+	6	9061	c.8947A>T	c.(8947-8949)ATC>TTC	p.I2983F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2983					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
MST1	4485	broad.mit.edu	37	3	49721785	49721785	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49721785A>G	uc003cxg.2	-	17	2050	c.1978T>C	c.(1978-1980)TGC>CGC	p.C660R		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	646	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737706	49737706	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737706G>A	uc003cxh.2	+	13	1117	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	RNF123_uc010hky.1_Missense_Mutation_p.G6D|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	344						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49737739	49737739	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49737739A>C	uc003cxh.2	+	13	1150	c.1064A>C	c.(1063-1065)CAG>CCG	p.Q355P	RNF123_uc010hky.1_Missense_Mutation_p.Q17P|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	355						cytoplasm	ligase activity|protein binding|zinc ion binding	p.Q355fs*60(1)		kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)														---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49740860	49740860	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49740860A>G	uc003cxh.2	+	21	1837	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	RNF123_uc010hky.1_Missense_Mutation_p.E246G|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	584						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)												OREG0015571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755433	49755433	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755433C>T	uc003cxj.2	-	1	1806	c.1466G>A	c.(1465-1467)GGC>GAC	p.G489D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	489	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755718	49755718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755718C>T	uc003cxj.2	-	1	1521	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	394	Helical; (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756426	49756426	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756426G>A	uc003cxj.2	-	1	813	c.473C>T	c.(472-474)GCG>GTG	p.A158V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	158	Extracellular (Potential).|LRR 5.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49756752	49756752	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49756752G>C	uc003cxj.2	-	1	487	c.147C>G	c.(145-147)GGC>GGG	p.G49G	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	49	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50098595	50098595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50098595G>T	uc003cyc.2	+	13	2427	c.2294G>T	c.(2293-2295)AGG>ATG	p.R765M	RBM6_uc010hlc.1_Missense_Mutation_p.R284M|RBM6_uc003cyd.2_Missense_Mutation_p.R243M|RBM6_uc003cye.2_Missense_Mutation_p.R243M|RBM6_uc011bdi.1_Missense_Mutation_p.R107M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	765					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)														---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50220395	50220395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50220395G>A	uc003cyj.2	+	10	1160	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R290Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	321	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)														---	---	---	---
NAT6	24142	broad.mit.edu	37	3	50334959	50334959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50334959C>T	uc003czi.2	-						HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Intron|NAT6_uc003czk.3_5'UTR|NAT6_uc003czl.1_5'UTR	NM_012191	NP_036323			N-acetyltransferase 6							cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50380781	50380781	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50380781C>G	uc003dag.1	-	5	613	c.467G>C	c.(466-468)GGC>GCC	p.G156A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.G156A|ZMYND10_uc003dah.1_Missense_Mutation_p.G77A|ZMYND10_uc010hlm.1_Missense_Mutation_p.G113A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	156						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)											TSP Lung(30;0.18)			---	---	---	---
NPRL2	10641	broad.mit.edu	37	3	50385278	50385278	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50385278A>T	uc003daj.1	-	10	1390	c.987T>A	c.(985-987)TAT>TAA	p.Y329*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Nonsense_Mutation_p.Y209*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	329					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1																		---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50413106	50413106	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50413106T>C	uc003daq.2	-	21	1914	c.1876A>G	c.(1876-1878)ACC>GCC	p.T626A	CACNA2D2_uc003dap.2_Missense_Mutation_p.T626A	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	626	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)													---	---	---	---
CISH	1154	broad.mit.edu	37	3	50645243	50645243	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50645243G>A	uc003dax.2	-	3	753	c.572C>T	c.(571-573)GCG>GTG	p.A191V	CISH_uc010hlq.2_Missense_Mutation_p.A208V	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	191					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51101984G>A	uc011bds.1	+	6	444	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352414	51352414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352414A>G	uc011bds.1	+	32	3280	c.3257A>G	c.(3256-3258)GAA>GGA	p.E1086G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1086						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352435	51352435	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352435C>T	uc011bds.1	+	32	3301	c.3278C>T	c.(3277-3279)CCG>CTG	p.P1093L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1093						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51352488	51352488	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51352488C>T	uc011bds.1	+	32	3354	c.3331C>T	c.(3331-3333)CGG>TGG	p.R1111W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1111						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51376458	51376458	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51376458A>G	uc011bds.1	+	37	3788	c.3765A>G	c.(3763-3765)ACA>ACG	p.T1255T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1255	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51393879	51393879	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51393879C>T	uc011bds.1	+	43	4481	c.4458C>T	c.(4456-4458)AGC>AGT	p.S1486S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1486	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51456125	51456125	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51456125C>G	uc003dbe.1	-						VPRBP_uc003dbf.1_Intron	NM_014703	NP_055518			HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
PCBP4	57060	broad.mit.edu	37	3	51992332	51992332	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51992332C>T	uc003dcd.1	-	12	1353	c.957G>A	c.(955-957)ACG>ACA	p.T319T	PCBP4_uc003dcb.1_Silent_p.T285T|PCBP4_uc003dcc.1_Silent_p.T340T|PCBP4_uc003dce.1_Missense_Mutation_p.A321T|PCBP4_uc003dcf.1_Silent_p.T319T|PCBP4_uc003dcg.1_Silent_p.T285T|PCBP4_uc003dch.1_Silent_p.T319T|PCBP4_uc003dci.1_Silent_p.T159T|PCBP4_uc003dcj.1_Silent_p.T319T|PCBP4_uc003dck.1_Silent_p.T276T|PCBP4_uc003dcl.1_Intron	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	319						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
POC1A	25886	broad.mit.edu	37	3	52183949	52183949	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52183949C>T	uc003dcu.2	-	3	476	c.158G>A	c.(157-159)CGC>CAC	p.R53H	POC1A_uc003dcv.2_Missense_Mutation_p.R15H|POC1A_uc003dcw.2_Missense_Mutation_p.R53H	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	53	WD 1.					centriole|microtubule basal body					0																		---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52255388	52255388	+	Missense_Mutation	SNP	G	A	A	rs142806370		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52256541	52256541	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52256541A>G	uc003dda.1	-	2	2425	c.1791T>C	c.(1789-1791)AGT>AGC	p.S597S	TLR9_uc003ddb.2_Silent_p.S694S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	597	LRR 19.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257218	52257218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257218G>A	uc003dda.1	-	2	1748	c.1114C>T	c.(1114-1116)CAC>TAC	p.H372Y	TLR9_uc003ddb.2_Missense_Mutation_p.H469Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	372	LRR 12.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257565	52257565	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52257565C>T	uc003dda.1	-	2	1401	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TLR9_uc003ddb.2_Missense_Mutation_p.R353H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	256	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)													---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52383021	52383021	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52383021A>T	uc011bef.1	+	13	2485	c.2224A>T	c.(2224-2226)ATC>TTC	p.I742F	DNAH1_uc003ddt.1_Missense_Mutation_p.I742F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	742	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52403902	52403902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52403902G>A	uc011bef.1	+	38	6266	c.6005G>A	c.(6004-6006)CGC>CAC	p.R2002H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2002	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52429663	52429663	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52429663A>T	uc011bef.1	+	70	11489	c.11228A>T	c.(11227-11229)GAA>GTA	p.E3743V	DNAH1_uc003ddv.2_Missense_Mutation_p.E601V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3808	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52485813	52485813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52485813G>A	uc003deb.2	-	4	290	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	88					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
TNNC1	7134	broad.mit.edu	37	3	52486162	52486162	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52486162A>G	uc003deb.2	-	3	188	c.162T>C	c.(160-162)CCT>CCC	p.P54P	NISCH_uc011beg.1_5'Flank	NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	54	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)													---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52504925	52504925	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52504925T>C	uc011beg.1	+	5	481	c.409_splice	c.e5+2	p.G137_splice	NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice	NM_007184	NP_009115			nischarin						apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556242	52556242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556242G>A	uc003dej.2	+	59	6535	c.6461G>A	c.(6460-6462)GGC>GAC	p.G2154D	STAB1_uc003dek.1_Missense_Mutation_p.G169D|STAB1_uc003del.2_Missense_Mutation_p.G41D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2154	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556614	52556614	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52556614T>G	uc003dej.2	+	61	6728	c.6654T>G	c.(6652-6654)CCT>CCG	p.P2218P	STAB1_uc003dek.1_Silent_p.P233P|STAB1_uc003del.2_Silent_p.P105P	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2218	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598072	52598072	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52598072T>A	uc003des.2	-	23	3881	c.3869A>T	c.(3868-3870)TAC>TTC	p.Y1290F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Y1290F|PBRM1_uc003der.2_Missense_Mutation_p.Y1258F|PBRM1_uc003det.2_Missense_Mutation_p.Y1305F|PBRM1_uc003deu.2_Missense_Mutation_p.Y1305F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Y1290F|PBRM1_uc010hmk.1_Missense_Mutation_p.Y1265F|PBRM1_uc003dey.2_Missense_Mutation_p.Y1265F|PBRM1_uc003dez.1_Missense_Mutation_p.Y1289F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1290					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52643740	52643740	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52643740T>C	uc003des.2	-	16	2168	c.2156A>G	c.(2155-2157)CAA>CGA	p.Q719R	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q719R|PBRM1_uc003der.2_Missense_Mutation_p.Q687R|PBRM1_uc003det.2_Missense_Mutation_p.Q734R|PBRM1_uc003deu.2_Missense_Mutation_p.Q734R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q719R|PBRM1_uc010hmk.1_Missense_Mutation_p.Q719R|PBRM1_uc003dey.2_Missense_Mutation_p.Q719R|PBRM1_uc003dez.1_Missense_Mutation_p.Q719R|PBRM1_uc003dfb.1_Missense_Mutation_p.Q632R|PBRM1_uc003dfa.1_Missense_Mutation_p.Q65R|PBRM1_uc003dfc.2_Missense_Mutation_p.Q86R	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	719	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y718_Q719>*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52745874	52745874	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52745874C>T	uc003dfq.3	-	16	2634	c.2445G>A	c.(2443-2445)CGG>CGA	p.R815R	NEK4_uc011bej.1_Silent_p.R726R	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	815					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)														---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52821105	52821105	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52821105G>T	uc003dfs.2	+	14	1902	c.1878G>T	c.(1876-1878)AAG>AAT	p.K626N	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.K227N|ITIH1_uc010hmo.1_Missense_Mutation_p.K180N|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	626	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)														---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833437	52833437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833437T>C	uc003dfv.2	+	8	875	c.839T>C	c.(838-840)GTG>GCG	p.V280A	ITIH3_uc011bek.1_Missense_Mutation_p.V280A	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	280					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52867330	52867330	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52867330C>T	uc003dgc.3	-	10					ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|MUSTN1_uc010hmq.1_Intron|MUSTN1_uc003dga.3_3'UTR|MUSTN1_uc003dgb.3_3'UTR	NM_198563	NP_940965			transmembrane protein 110							integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52877754C>T	uc003dge.2	-	6	682	c.601G>A	c.(601-603)GTC>ATC	p.V201I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V201I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	201	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52977522	52977522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52977522T>C	uc003dgf.2	-	5	780	c.211A>G	c.(211-213)ACC>GCC	p.T71A	SFMBT1_uc010hmr.2_Missense_Mutation_p.T18A|SFMBT1_uc003dgg.2_Missense_Mutation_p.T71A|SFMBT1_uc003dgh.2_Missense_Mutation_p.T71A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	71	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52988359	52988359	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52988359C>A	uc003dgf.2	-	4	666	c.97G>T	c.(97-99)GCA>TCA	p.A33S	SFMBT1_uc003dgg.2_Missense_Mutation_p.A33S|SFMBT1_uc003dgh.2_Missense_Mutation_p.A33S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	33	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---
RFT1	91869	broad.mit.edu	37	3	53157860	53157860	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53157860T>C	uc003dgj.2	-						RFT1_uc003dgk.2_Intron	NM_052859	NP_443091			RFT1 homolog						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53700410	53700410	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53700410A>G	uc003dgv.3	+	7	1127	c.964A>G	c.(964-966)AAT>GAT	p.N322D	CACNA1D_uc003dgu.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgy.3_Missense_Mutation_p.N322D|CACNA1D_uc003dgw.3_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	322	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53757947G>A	uc003dgv.3	+	14	2184	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	CACNA1D_uc003dgu.3_Missense_Mutation_p.G694D|CACNA1D_uc003dgy.3_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.3_Missense_Mutation_p.G341D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	674	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53783420	53783420	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53783420T>C	uc003dgv.3	+	27	3603	c.3440T>C	c.(3439-3441)TTT>TCT	p.F1147S	CACNA1D_uc003dgu.3_Missense_Mutation_p.F1167S|CACNA1D_uc003dgy.3_Missense_Mutation_p.F1147S|CACNA1D_uc003dgw.3_Missense_Mutation_p.F814S|CACNA1D_uc003dgx.1_Missense_Mutation_p.F295S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1147	Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53892801	53892801	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53892801T>C	uc003dha.2	+	9	842	c.803T>C	c.(802-804)GTT>GCT	p.V268A		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	268	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)														---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53902862	53902862	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53902862T>A	uc003dhd.2	-	13	1818	c.1759A>T	c.(1759-1761)AAA>TAA	p.K587*	ACTR8_uc003dhb.2_Nonsense_Mutation_p.K292*|ACTR8_uc003dhc.2_Nonsense_Mutation_p.K476*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	587					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54157558	54157558	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54157558G>A	uc003dhf.2	+	2	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	47	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54905633	54905633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54905633A>G	uc003dhf.2	+	18	1742	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E471G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E299G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	565	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54922023	54922023	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54922023G>A	uc003dhf.2	+	24	2142	c.2094G>A	c.(2092-2094)GCG>GCA	p.A698A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A604A|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54958982	54958982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54958982C>T	uc003dhl.2	-	2	402	c.268G>A	c.(268-270)GCC>ACC	p.A90T	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	90	Extracellular (Potential).|LRR 2.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)														---	---	---	---
ERC2	26059	broad.mit.edu	37	3	56114985	56114985	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56114985C>T	uc003dhr.1	-	7	1757	c.1501G>A	c.(1501-1503)GAA>AAA	p.E501K	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	501	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)														---	---	---	---
C3orf63	23272	broad.mit.edu	37	3	56657354	56657354	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56657354T>A	uc003did.3	-	23	4642	c.4541A>T	c.(4540-4542)GAT>GTT	p.D1514V	C3orf63_uc003dib.3_Missense_Mutation_p.D633V|C3orf63_uc003dic.3_Missense_Mutation_p.D1138V|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1575										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)														---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57107810	57107810	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57107810G>A	uc003dij.1	+	2	763	c.88G>A	c.(88-90)GTT>ATT	p.V30I	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	30											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)														---	---	---	---
HESX1	8820	broad.mit.edu	37	3	57232257	57232257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57232257T>C	uc003din.3	-	4	860	c.526A>G	c.(526-528)AAA>GAA	p.K176E		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)														---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57274552	57274552	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57274552T>C	uc003dio.2	+	5	492	c.345T>C	c.(343-345)ATT>ATC	p.I115I	APPL1_uc010hnb.2_Silent_p.I115I|APPL1_uc011bey.1_Silent_p.I98I	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	115	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)														---	---	---	---
ASB14	142686	broad.mit.edu	37	3	57312659	57312659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57312659C>T	uc003diq.2	-	8	1273	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ASB14_uc003dip.1_Missense_Mutation_p.A108T	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	393	ANK 10.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58097866	58097866	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58097866A>T	uc003djj.2	+						FLNB_uc010hne.2_Intron|FLNB_uc003djk.2_Intron|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Intron|FLNB_uc003djm.2_Intron	NM_001457	NP_001448			filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58104628	58104628	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58104628T>C	uc003djj.2	+	19	2940	c.2775T>C	c.(2773-2775)GGT>GGC	p.G925G	FLNB_uc010hne.2_Silent_p.G925G|FLNB_uc003djk.2_Silent_p.G925G|FLNB_uc010hnf.2_Silent_p.G925G|FLNB_uc003djl.2_Silent_p.G756G|FLNB_uc003djm.2_Silent_p.G756G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	925	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
RPP14	11102	broad.mit.edu	37	3	58302681	58302681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58302681A>G	uc010hnh.2	+	5	707	c.279A>G	c.(277-279)GGA>GGG	p.G93G	RPP14_uc010hni.2_5'UTR|RPP14_uc003dju.3_Silent_p.G93G|RPP14_uc003djv.3_5'UTR|RPP14_uc003djw.3_5'UTR	NM_001098783	NP_001092253	O95059	RPP14_HUMAN	ribonuclease P 14kDa subunit	93					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)														---	---	---	---
PXK	54899	broad.mit.edu	37	3	58395860	58395860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58395860C>T	uc003djz.1	+	16	1538	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V	PXK_uc003djx.1_Missense_Mutation_p.A480V|PXK_uc003djy.1_Missense_Mutation_p.A463V|PXK_uc003dka.1_Missense_Mutation_p.A480V|PXK_uc003dkb.1_Missense_Mutation_p.A397V|PXK_uc003dkc.1_Missense_Mutation_p.A463V|PXK_uc011bfe.1_Missense_Mutation_p.A447V|PXK_uc010hnj.1_Missense_Mutation_p.A447V|PXK_uc003dkd.1_Missense_Mutation_p.A343V|PXK_uc010hnk.1_Missense_Mutation_p.A254V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	480	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	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)														---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58502969	58502969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58502969G>A	uc003dkl.2	-	13	1989	c.1814C>T	c.(1813-1815)GCA>GTA	p.A605V		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	605					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)														---	---	---	---
FAM3D	131177	broad.mit.edu	37	3	58639434	58639434	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58639434T>G	uc003dkq.2	-	3	385	c.88A>C	c.(88-90)AGC>CGC	p.S30R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	30					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62180761	62180761	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62180761C>T	uc003dlb.2	+	10	1963	c.1244C>T	c.(1243-1245)CCC>CTC	p.P415L	PTPRG_uc003dlc.2_Missense_Mutation_p.P415L	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	415	Fibronectin type-III.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62262706	62262706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62262706A>G	uc003dlb.2	+	25	4338	c.3619A>G	c.(3619-3621)AAT>GAT	p.N1207D	PTPRG_uc003dlc.2_Missense_Mutation_p.N1178D|PTPRG_uc011bfi.1_Missense_Mutation_p.N453D|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1207	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
C3orf14	57415	broad.mit.edu	37	3	62318926	62318926	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62318926C>T	uc003dlf.2	+						C3orf14_uc010hnq.2_Intron|C3orf14_uc003dlg.2_Intron	NM_020685	NP_065736			hypothetical protein LOC57415											central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)														---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63466614	63466614	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63466614C>T	uc003dlq.2	+	2	500	c.131C>T	c.(130-132)GCG>GTG	p.A44V	SYNPR_uc003dlp.2_Missense_Mutation_p.A64V|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.A53V|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	44	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)														---	---	---	---
THOC7	80145	broad.mit.edu	37	3	63822025	63822025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63822025G>A	uc003dlt.3	-	5	493	c.362C>T	c.(361-363)GCT>GTT	p.A121V	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.A58V	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	121	Potential.|Interaction with THOC5.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)														---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63975959	63975959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63975959T>C	uc003dlw.3	+	10	2022	c.1469T>C	c.(1468-1470)TTA>TCA	p.L490S	ATXN7_uc003dlv.2_Missense_Mutation_p.L490S|ATXN7_uc010hnv.2_Missense_Mutation_p.L490S|ATXN7_uc011bfn.1_Missense_Mutation_p.L345S	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	490					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)														---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64184539	64184539	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64184539C>A	uc003dmf.2	-	2	651	c.65G>T	c.(64-66)AGG>ATG	p.R22M		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	22	PET.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64587866	64587866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64587866A>G	uc003dmg.2	-	26	3803	c.3771T>C	c.(3769-3771)GGT>GGC	p.G1257G	ADAMTS9_uc011bfo.1_Silent_p.G1229G|ADAMTS9_uc003dmh.1_Silent_p.G1086G|ADAMTS9_uc011bfp.1_Silent_p.G168G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1257	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64589923	64589923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64589923G>A	uc003dmg.2	-	24	3591	c.3559C>T	c.(3559-3561)CGA>TGA	p.R1187*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.R1159*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.R1016*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.R98*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1187	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65350521	65350521	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65350521G>A	uc003dmn.2	-						MAGI1_uc003dmm.2_Intron|MAGI1_uc003dmo.2_Intron|MAGI1_uc003dmp.2_Intron	NM_001033057	NP_001028229			membrane associated guanylate kinase, WW and PDZ						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65416466	65416466	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65416466G>A	uc003dmn.2	-	11	1980	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	MAGI1_uc003dmm.2_Missense_Mutation_p.T485M|MAGI1_uc003dmo.2_Missense_Mutation_p.T485M|MAGI1_uc003dmp.2_Missense_Mutation_p.T485M|MAGI1_uc010hny.2_Missense_Mutation_p.T370M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	485	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66430685	66430685	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66430685A>C	uc003dmx.2	-	19					SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_3'UTR|LRIG1_uc003dmw.2_3'UTR|LRIG1_uc010hnz.2_3'UTR|LRIG1_uc010hoa.2_3'UTR	NM_015541	NP_056356			leucine-rich repeats and immunoglobulin-like							integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66434438	66434438	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66434438G>T	uc003dmx.2	-	14	2062	c.2048C>A	c.(2047-2049)GCT>GAT	p.A683D	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A303D|LRIG1_uc003dmw.2_Missense_Mutation_p.A349D|LRIG1_uc010hnz.2_Missense_Mutation_p.A399D|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66467619	66467619	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66467619A>C	uc003dmx.2	-	4	451	c.437T>G	c.(436-438)CTG>CGG	p.L146R	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L146R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	146	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---
KBTBD8	84541	broad.mit.edu	37	3	67054650	67054650	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67054650G>A	uc003dmy.2	+	3	1312	c.1259G>A	c.(1258-1260)TGT>TAT	p.C420Y	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	420	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)														---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67426240	67426240	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67426240T>C	uc003dna.3	-	11	1255	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G	SUCLG2_uc010hob.2_Silent_p.G156G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	409					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---
LMOD3	56203	broad.mit.edu	37	3	69168050	69168050	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69168050G>A	uc003dns.2	-	2	1665	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	LMOD3_uc003dnt.2_Missense_Mutation_p.R486W	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	486						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)														---	---	---	---
MITF	4286	broad.mit.edu	37	3	69928327	69928327	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69928327C>A	uc003dnz.2	+	2	263	c.147C>A	c.(145-147)AGC>AGA	p.S49R	MITF_uc011bgb.1_5'UTR|MITF_uc003doa.2_Missense_Mutation_p.S48R|MITF_uc003dob.2_Missense_Mutation_p.S33R|MITF_uc003dod.2_Missense_Mutation_p.S24R|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
MITF	4286	broad.mit.edu	37	3	69987112	69987112	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69987112G>A	uc003dnz.2	+	3	610	c.494G>A	c.(493-495)GGC>GAC	p.G165D	MITF_uc011bgb.1_Missense_Mutation_p.G113D|MITF_uc003doa.2_Missense_Mutation_p.G164D|MITF_uc003dob.2_Missense_Mutation_p.G149D|MITF_uc003dod.2_Missense_Mutation_p.G140D|MITF_uc003doe.2_Missense_Mutation_p.G58D|MITF_uc003dof.2_Missense_Mutation_p.G58D	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71015100	71015100	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71015100C>A	uc003dol.2	-	16	2153	c.1830G>T	c.(1828-1830)ATG>ATT	p.M610I	FOXP1_uc003dom.2_Missense_Mutation_p.M534I|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.M609I|FOXP1_uc003dop.2_Missense_Mutation_p.M610I|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.M510I|FOXP1_uc003doj.2_Missense_Mutation_p.M510I|FOXP1_uc003dok.2_Missense_Mutation_p.M423I	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	610					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71026102	71026102	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71026102G>C	uc003dol.2	-	13	1843	c.1520C>G	c.(1519-1521)GCC>GGC	p.A507G	FOXP1_uc003dom.2_Missense_Mutation_p.A431G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A506G|FOXP1_uc003dop.2_Missense_Mutation_p.A507G|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A407G|FOXP1_uc003doj.2_Missense_Mutation_p.A407G|FOXP1_uc003dok.2_Missense_Mutation_p.A320G|FOXP1_uc003dor.1_Missense_Mutation_p.A284G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	507	Fork-head.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73047252	73047252	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73047252A>T	uc003dph.1	+	2	129	c.59A>T	c.(58-60)GAA>GTA	p.E20V	PPP4R2_uc003dpi.1_Missense_Mutation_p.E20V	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	20					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73432638	73432638	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73432638T>C	uc003dpl.1	-	10	3175	c.3079A>G	c.(3079-3081)AAG>GAG	p.K1027E	PDZRN3_uc011bgh.1_Missense_Mutation_p.K684E|PDZRN3_uc010hoe.1_Missense_Mutation_p.K725E|PDZRN3_uc011bgf.1_Missense_Mutation_p.K744E|PDZRN3_uc011bgg.1_Missense_Mutation_p.K747E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1027							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433389	73433389	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433389G>A	uc003dpl.1	-	10	2424	c.2328C>T	c.(2326-2328)GAC>GAT	p.D776D	PDZRN3_uc011bgh.1_Silent_p.D433D|PDZRN3_uc010hoe.1_Silent_p.D474D|PDZRN3_uc011bgf.1_Silent_p.D493D|PDZRN3_uc011bgg.1_Silent_p.D496D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	776							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74383974	74383974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74420395	74420395	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74420395T>G	uc003dpm.1	-	5	690	c.610A>C	c.(610-612)AAT>CAT	p.N204H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	204	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77530337	77530337	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77530337A>G	uc003dpy.3	+	4	1277	c.634A>G	c.(634-636)AGG>GGG	p.R212G	ROBO2_uc003dpz.2_Missense_Mutation_p.R212G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R212G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	212	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77629161	77629161	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77629161T>A	uc003dpy.3	+	16	3035	c.2392T>A	c.(2392-2394)TCC>ACC	p.S798T	ROBO2_uc003dpz.2_Missense_Mutation_p.S802T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.S802T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	798	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77684140	77684140	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77684140G>T	uc003dpy.3	+	24	4523	c.3880G>T	c.(3880-3882)GGG>TGG	p.G1294W	ROBO2_uc003dpz.2_Missense_Mutation_p.G1359W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1298W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1294	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78680329	78680329	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78680329T>C	uc003dqe.2	-	25	3816	c.3608A>G	c.(3607-3609)AAC>AGC	p.N1203S	ROBO1_uc003dqb.2_Missense_Mutation_p.N1164S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1103S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1158S|ROBO1_uc010hoh.2_Missense_Mutation_p.N395S|ROBO1_uc011bgl.1_Missense_Mutation_p.N775S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1203	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78763600	78763600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78763600A>G	uc003dqe.2	-	8	1200	c.992T>C	c.(991-993)GTT>GCT	p.V331A	ROBO1_uc003dqb.2_Missense_Mutation_p.V292A|ROBO1_uc003dqc.2_Missense_Mutation_p.V292A|ROBO1_uc003dqd.2_Missense_Mutation_p.V292A|ROBO1_uc003dqf.1_Missense_Mutation_p.V7A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	331	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
POU1F1	5449	broad.mit.edu	37	3	87313466	87313466	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:87313466A>G	uc003dqq.1	-	3	536	c.411T>C	c.(409-411)AAT>AAC	p.N137N	POU1F1_uc010hoj.1_Silent_p.N163N	NM_000306	NP_000297	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	137	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)														---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88040099T>C	uc003dqr.2	+	2	358	c.200T>C	c.(199-201)GTC>GCC	p.V67A		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)													---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205231	88205231	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88205231T>C	uc003dqw.2	+	4	747	c.436T>C	c.(436-438)TGT>CGT	p.C146R		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	146					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391057	89391057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89391057C>T	uc003dqy.2	+	5	1348	c.1123C>T	c.(1123-1125)CCA>TCA	p.P375S	EPHA3_uc003dqx.1_Missense_Mutation_p.P375S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	375	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89498434	89498434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89498434G>A	uc003dqy.2	+	14	2631	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	802	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
STX19	415117	broad.mit.edu	37	3	93733654	93733654	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:93733654T>C	uc003drh.1	-	2	717	c.460A>G	c.(460-462)ACA>GCA	p.T154A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	154					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945107	96945107	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945107G>A	uc010how.1	+	4	1158	c.1115_splice	c.e4-1	p.A372_splice	EPHA6_uc003drp.1_Splice_Site_p.A372_splice	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945273	96945273	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96945273T>C	uc010how.1	+						EPHA6_uc003drp.1_Intron	NM_001080448	NP_001073917			EPH receptor A6 isoform a							integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97251327	97251327	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97251327A>G	uc010how.1	+	11	2369	c.2326A>G	c.(2326-2328)AGT>GGT	p.S776G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.S142G|EPHA6_uc003drs.3_Missense_Mutation_p.S168G|EPHA6_uc003drr.3_Missense_Mutation_p.S168G|EPHA6_uc003drt.2_Missense_Mutation_p.S168G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	681	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97596328	97596328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97596328A>T	uc003drx.2	+	1	510	c.446A>T	c.(445-447)GAC>GTC	p.D149V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0																		---	---	---	---
MINA	84864	broad.mit.edu	37	3	97680537	97680537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97680537T>A	uc003drz.1	-	3	954	c.448A>T	c.(448-450)ATC>TTC	p.I150F	MINA_uc003dsa.1_Missense_Mutation_p.I150F|MINA_uc003dsb.1_Missense_Mutation_p.I150F|MINA_uc003dsc.1_Missense_Mutation_p.I150F|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	150	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806045	97806045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97806045T>C	uc011bgs.1	+	1	29	c.29T>C	c.(28-30)CTT>CCT	p.L10P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868324	97868324	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97868324T>C	uc003dsg.1	+	1	95	c.95T>C	c.(94-96)TTG>TCG	p.L32S		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983222	97983222	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983222G>T	uc003dsi.1	+	1	94	c.94G>T	c.(94-96)GGA>TGA	p.G32*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983483	97983483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983483T>C	uc003dsi.1	+	1	355	c.355T>C	c.(355-357)TCC>CCC	p.S119P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002053	98002053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002053T>C	uc003dsj.1	+	1	322	c.322T>C	c.(322-324)TCC>CCC	p.S108P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002164	98002164	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002164C>T	uc003dsj.1	+	1	433	c.433C>T	c.(433-435)CTA>TTA	p.L145L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98217044	98217044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98217044A>G	uc011bgx.1	+	1	520	c.520A>G	c.(520-522)ATC>GTC	p.I174V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2																		---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251463	98251463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98251463T>C	uc011bgy.1	+	1	586	c.586T>C	c.(586-588)TCC>CCC	p.S196P		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	196	Helical; Name=5; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)														---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98510729	98510729	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98510729G>A	uc003dsz.2	+	9	1037	c.801G>A	c.(799-801)GCG>GCA	p.A267A	ST3GAL6_uc003dsy.2_Silent_p.A181A|ST3GAL6_uc003dta.2_Silent_p.A149A|ST3GAL6_uc003dtb.2_Silent_p.A123A|ST3GAL6_uc003dtc.2_Silent_p.A267A|ST3GAL6_uc010hpd.2_Silent_p.A320A	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	267	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518401	98518401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98518401A>G	uc003dtd.2	-	16	2506	c.2143T>C	c.(2143-2145)TAC>CAC	p.Y715H	DCBLD2_uc003dte.2_Missense_Mutation_p.Y729H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	715	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98600376	98600376	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98600376A>G	uc003dtd.2	-						DCBLD2_uc003dte.2_Intron|DCBLD2_uc003dtf.1_Intron	NM_080927	NP_563615			discoidin, CUB and LCCL domain containing 2						cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99513553	99513553	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99513553G>T	uc003dtg.1	+	5	1053	c.808G>T	c.(808-810)GGA>TGA	p.G270*	COL8A1_uc003dth.1_Nonsense_Mutation_p.G270*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G271*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	270	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99567352	99567352	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99567352A>G	uc003dtm.2	-	5	3631	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T1056T|FILIP1L_uc010hpf.2_Silent_p.T632T|FILIP1L_uc010hpg.2_Silent_p.T816T|FILIP1L_uc003dtn.2_Silent_p.T816T|FILIP1L_uc003dtp.1_Silent_p.T816T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1056						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568036	99568036	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99568036A>G	uc003dtm.2	-	5	2947	c.2484T>C	c.(2482-2484)TAT>TAC	p.Y828Y	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.Y828Y|FILIP1L_uc010hpf.2_Silent_p.Y404Y|FILIP1L_uc010hpg.2_Silent_p.Y588Y|FILIP1L_uc003dtn.2_Silent_p.Y588Y|FILIP1L_uc003dtp.1_Silent_p.Y588Y	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	828						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99569857	99569857	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99569857C>A	uc003dtm.2	-	5	1126	c.663G>T	c.(661-663)AAG>AAT	p.K221N	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K221N|FILIP1L_uc010hpf.2_Translation_Start_Site|FILIP1L_uc010hpg.2_Translation_Start_Site|FILIP1L_uc003dtn.2_Translation_Start_Site|FILIP1L_uc003dtp.1_Translation_Start_Site	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	221	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100067663	100067663	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100067663A>C	uc003dtv.2	+	7	596	c.522A>C	c.(520-522)GTA>GTC	p.V174V	NIT2_uc011bha.1_Missense_Mutation_p.Y143S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	174	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1																		---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148609	100148609	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100148609T>C	uc003dtx.3	+	2	1316	c.36T>C	c.(34-36)TCT>TCC	p.S12S	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	12											0																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413729	100413729	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413729T>C	uc003duc.2	+	16	2546	c.2278T>C	c.(2278-2280)TAT>CAT	p.Y760H	GPR128_uc011bhc.1_Missense_Mutation_p.Y461H|GPR128_uc003dud.2_Missense_Mutation_p.Y283H	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	760	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100413823	100413823	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100413823A>T	uc003duc.2	+	16	2640	c.2372A>T	c.(2371-2373)GAC>GTC	p.D791V	GPR128_uc011bhc.1_Missense_Mutation_p.D492V|GPR128_uc003dud.2_Missense_Mutation_p.D314V	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	791	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100964745	100964745	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100964745T>C	uc003duq.1	-	12	1647	c.1444A>G	c.(1444-1446)AGC>GGC	p.S482G	IMPG2_uc011bhe.1_Missense_Mutation_p.S345G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	482	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101047497	101047497	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101047497A>G	uc003dut.2	-	21	2899	c.2788T>C	c.(2788-2790)TGT>CGT	p.C930R	SENP7_uc003duu.2_Missense_Mutation_p.C865R|SENP7_uc003duv.2_Missense_Mutation_p.C897R|SENP7_uc003duw.2_Missense_Mutation_p.C864R|SENP7_uc003dux.2_Missense_Mutation_p.C766R|SENP7_uc003dus.2_Missense_Mutation_p.C118R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	930	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101080556	101080556	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101080556T>A	uc003dut.2	-						SENP7_uc003duu.2_Intron|SENP7_uc003duv.2_Intron|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705			sentrin/SUMO-specific protease 7 isoform 1						proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101311518	101311518	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101311518A>G	uc003dva.2	+	5	476	c.458A>G	c.(457-459)CAT>CGT	p.H153R	PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_3'UTR	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	153					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101370373	101370373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101370373C>T	uc003dve.3	-	11	3029	c.2799G>A	c.(2797-2799)ATG>ATA	p.M933I		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	933	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
FAM55C	91775	broad.mit.edu	37	3	101525942	101525942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101525942G>A	uc003dvn.2	+	6	1531	c.894G>A	c.(892-894)TGG>TGA	p.W298*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.W298*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	298						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
CBLB	868	broad.mit.edu	37	3	105378039	105378039	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:105378039T>C	uc003dwc.2	-	19	3046	c.2724A>G	c.(2722-2724)CCA>CCG	p.P908P	CBLB_uc003dwa.2_Silent_p.P123P|CBLB_uc011bhi.1_Silent_p.P886P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	908	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9								Mis S		AML								---	---	---	---
BBX	56987	broad.mit.edu	37	3	107463488	107463488	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107463488C>T	uc010hpr.2	+	8	1008	c.681C>T	c.(679-681)GGC>GGT	p.G227G	BBX_uc003dwk.3_Silent_p.G227G|BBX_uc003dwl.3_Silent_p.G227G|BBX_uc010hps.1_Silent_p.G248G|BBX_uc003dwm.3_Silent_p.G227G	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108300296	108300296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108300296T>C	uc003dxb.3	-	5	784	c.515A>G	c.(514-516)CAC>CGC	p.H172R	KIAA1524_uc003dxc.1_Missense_Mutation_p.H13R|KIAA1524_uc010hpw.1_Missense_Mutation_p.H13R	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	172						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108303909	108303909	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108303909T>C	uc003dxb.3	-						KIAA1524_uc003dxc.1_Intron|KIAA1524_uc010hpw.1_Intron	NM_020890	NP_065941			p90 autoantigen							cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108366943	108366943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108366943T>C	uc003dxd.2	+	16	2368	c.1946T>C	c.(1945-1947)CTT>CCT	p.L649P	DZIP3_uc003dxf.1_Missense_Mutation_p.L649P|DZIP3_uc011bhm.1_Missense_Mutation_p.L100P|DZIP3_uc003dxe.1_Missense_Mutation_p.L649P|DZIP3_uc003dxg.1_Missense_Mutation_p.L372P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	649	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108392929	108392929	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108392929A>T	uc003dxd.2	+	24	3016	c.2594A>T	c.(2593-2595)TAT>TTT	p.Y865F	DZIP3_uc003dxf.1_Missense_Mutation_p.Y865F|DZIP3_uc011bhm.1_Missense_Mutation_p.Y316F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	865					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108639352	108639352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108639352C>T	uc003dxj.2	-	2	353	c.285G>A	c.(283-285)TGG>TGA	p.W95*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W95*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	95	EF-hand 3.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0																		---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110840996	110840996	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:110840996T>C	uc003dxt.1	+	4	828	c.828T>C	c.(826-828)TAT>TAC	p.Y276Y	PVRL3_uc003dxu.1_Silent_p.Y253Y	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	276	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2																		---	---	---	---
CD96	10225	broad.mit.edu	37	3	111356947	111356947	+	Missense_Mutation	SNP	C	T	T	rs146409785		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111356947C>T	uc003dxw.2	+	13	1627	c.1457C>T	c.(1456-1458)GCC>GTC	p.A486V	CD96_uc003dxx.2_Missense_Mutation_p.A470V|CD96_uc010hpy.1_Missense_Mutation_p.A469V	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	486	Extracellular (Potential).|Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111692618	111692618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111692618A>G	uc010hqa.2	+	17	3986	c.3575A>G	c.(3574-3576)CAA>CGA	p.Q1192R	PHLDB2_uc003dyc.2_Missense_Mutation_p.Q1176R|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q1192R|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q1149R|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q683R|PHLDB2_uc003dyj.2_Missense_Mutation_p.Q247R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1192	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111873873	111873873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111873873C>T	uc003dyu.2	-	27	3610	c.3388G>A	c.(3388-3390)GGC>AGC	p.G1130S	SLC9A10_uc011bhu.1_Missense_Mutation_p.G393S|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1082S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1130					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111921193	111921193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111921193C>A	uc003dyu.2	-	18	2448	c.2226G>T	c.(2224-2226)AAG>AAT	p.K742N	SLC9A10_uc011bhu.1_Missense_Mutation_p.K5N|SLC9A10_uc010hqc.2_Missense_Mutation_p.K694N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	742					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
SLC35A5	55032	broad.mit.edu	37	3	112299708	112299708	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112299708C>T	uc003dze.2	+	6	989	c.744C>T	c.(742-744)ATC>ATT	p.I248I		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	248	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358757	112358757	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112358757T>C	uc003dzf.2	-	2					CCDC80_uc011bhv.1_5'UTR|CCDC80_uc003dzg.2_5'UTR|CCDC80_uc003dzh.1_5'UTR	NM_199512	NP_955806			steroid-sensitive protein 1 precursor											ovary(2)	2																		---	---	---	---
BOC	91653	broad.mit.edu	37	3	112999441	112999441	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112999441G>T	uc003dzx.2	+	14	2860	c.2239G>T	c.(2239-2241)GGC>TGC	p.G747C	BOC_uc003dzy.2_Missense_Mutation_p.G747C|BOC_uc003dzz.2_Missense_Mutation_p.G748C|BOC_uc003eab.2_Missense_Mutation_p.G448C|BOC_uc003eac.2_Missense_Mutation_p.G62C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	747	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)															---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113166994	113166994	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113166994T>C	uc003eag.3	-						CCDC52_uc003eaf.3_Intron	NM_144718	NP_653319			coiled-coil domain containing 52						cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113169271	113169271	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113169271T>A	uc003eag.3	-	15	2526	c.2235A>T	c.(2233-2235)CTA>CTT	p.L745L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L641L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	745	Potential.				cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113346561	113346561	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113346561C>T	uc003eak.2	+	25					SIDT1_uc011big.1_3'UTR|SIDT1_uc011bii.1_3'UTR	NM_017699	NP_060169			SID1 transmembrane family, member 1 precursor							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375207	113375207	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375207A>C	uc003eam.2	-	7	5733	c.5322T>G	c.(5320-5322)GCT>GCG	p.A1774A	KIAA2018_uc003eal.2_Silent_p.A1718A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1774					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375611	113375611	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375611T>A	uc003eam.2	-	7	5329	c.4918A>T	c.(4918-4920)ATG>TTG	p.M1640L	KIAA2018_uc003eal.2_Missense_Mutation_p.M1584L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1640					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375915	113375915	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375915T>C	uc003eam.2	-	7	5025	c.4614A>G	c.(4612-4614)TTA>TTG	p.L1538L	KIAA2018_uc003eal.2_Silent_p.L1482L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1538	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377880	113377880	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113377880A>G	uc003eam.2	-	7	3060	c.2649T>C	c.(2647-2649)TCT>TCC	p.S883S	KIAA2018_uc003eal.2_Silent_p.S827S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	883	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378568	113378568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113378568A>G	uc003eam.2	-	7	2372	c.1961T>C	c.(1960-1962)GTT>GCT	p.V654A	KIAA2018_uc003eal.2_Missense_Mutation_p.V598A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	654					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
QTRTD1	79691	broad.mit.edu	37	3	113798905	113798905	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113798905G>T	uc003eay.2	+	8	1128	c.898_splice	c.e8+1	p.L300_splice	QTRTD1_uc003eaz.2_Splice_Site_p.L312_splice|QTRTD1_uc011biq.1_Splice_Site_p.L177_splice|QTRTD1_uc011bir.1_Splice_Site_p.L194_splice	NM_024638	NP_078914			queuine tRNA-ribosyltransferase domain						queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890743	113890743	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113890743C>T	uc003ebd.2	-	3	520	c.97G>A	c.(97-99)GCC>ACC	p.A33T	DRD3_uc010hqn.1_Missense_Mutation_p.A33T|DRD3_uc003ebb.1_Missense_Mutation_p.A33T|DRD3_uc003ebc.1_Missense_Mutation_p.A33T	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	33	Helical; Name=1.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.A33D(1)		ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)													---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115738431	115738431	+	Missense_Mutation	SNP	C	T	T	rs143751711		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:115738431C>T	uc003ebt.2	-	3	945	c.445G>A	c.(445-447)GTG>ATG	p.V149M	LSAMP_uc011bis.1_Missense_Mutation_p.V149M	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	149	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)														---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621666	118621666	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118621666C>A	uc003ebw.2	-	7	1244	c.997G>T	c.(997-999)GAG>TAG	p.E333*	IGSF11_uc011biv.1_Nonsense_Mutation_p.E305*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E309*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E332*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E308*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E332*	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	333	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0																		---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118867070	118867070	+	Missense_Mutation	SNP	G	A	A	rs138537972		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118867070G>A	uc003ecb.1	+	2	1482	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R481H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	481										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)														---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119084197	119084197	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119084197A>G	uc003ecj.3	+	2	667	c.135A>G	c.(133-135)ATA>ATG	p.I45M		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	45	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119120684	119120684	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119120684G>C	uc003ecj.3	+	10	1617	c.1085G>C	c.(1084-1086)GGA>GCA	p.G362A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119207829	119207829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119207829A>G	uc003ecm.2	+	8	876	c.792A>G	c.(790-792)AAA>AAG	p.K264K	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.K105K	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	264						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119306347	119306347	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119306347A>T	uc003ecs.2	+	5	994	c.696A>T	c.(694-696)AAA>AAT	p.K232N	ADPRH_uc010hqv.2_Missense_Mutation_p.K232N|ADPRH_uc011bjb.1_Missense_Mutation_p.K125N|ADPRH_uc003ect.2_Missense_Mutation_p.K232N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)														---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119912236	119912236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119912236A>G	uc011bjf.1	-	3	269	c.269T>C	c.(268-270)GTG>GCG	p.V90A	GPR156_uc011bjg.1_Missense_Mutation_p.V90A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	90	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120369653	120369653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120369653G>A	uc003edw.2	-	6	772	c.402C>T	c.(400-402)CAC>CAT	p.H134H	HGD_uc003edv.2_5'UTR	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
HGD	3081	broad.mit.edu	37	3	120393819	120393819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120393819G>A	uc003edw.2	-	3	475	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	35					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)														---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120500128	120500128	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120500128A>G	uc003edz.3	+	5	1245	c.1131A>G	c.(1129-1131)CGA>CGG	p.R377R		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120924830	120924830	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120924830A>G	uc003eec.3	+	10	1078	c.938A>G	c.(937-939)TAC>TGC	p.Y313C	STXBP5L_uc011bji.1_Missense_Mutation_p.Y313C	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	313	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120998642	120998642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120998642T>C	uc003eec.3	+						STXBP5L_uc011bji.1_Intron	NM_014980	NP_055795			syntaxin binding protein 5-like						exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121263672	121263672	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121263672T>A	uc003eee.3	-	2	374	c.245A>T	c.(244-246)GAA>GTA	p.E82V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	82					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341232	121341232	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121341232T>A	uc003eeg.2	+	3	1166	c.956T>A	c.(955-957)ATA>AAA	p.I319K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	319					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121383850	121383850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121383850G>A	uc003eei.3	-	21	9694	c.9568C>T	c.(9568-9570)CGG>TGG	p.R3190W	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3200W|GOLGB1_uc003eej.3_Missense_Mutation_p.R3156W	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3190	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416590	121416590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121416590A>G	uc003eei.3	-	13	2891	c.2765T>C	c.(2764-2766)TTT>TCT	p.F922S	GOLGB1_uc010hrc.2_Missense_Mutation_p.F927S|GOLGB1_uc003eej.3_Missense_Mutation_p.F888S|GOLGB1_uc011bjm.1_Missense_Mutation_p.F808S|GOLGB1_uc010hrd.1_Missense_Mutation_p.F886S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	922	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121433709	121433709	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121433709T>C	uc003eei.3	-	10	1514	c.1388A>G	c.(1387-1389)CAG>CGG	p.Q463R	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q468R|GOLGB1_uc003eej.3_Missense_Mutation_p.Q429R|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q349R|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q427R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	463	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121448715	121448715	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121448715T>C	uc003eei.3	-	3	372	c.246A>G	c.(244-246)CTA>CTG	p.L82L	GOLGB1_uc010hrc.2_Silent_p.L82L|GOLGB1_uc003eej.3_Silent_p.L43L|GOLGB1_uc011bjm.1_Silent_p.L43L|GOLGB1_uc010hrd.1_Silent_p.L82L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	82	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121576008	121576008	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121576008A>G	uc003een.2	+						EAF2_uc003eeo.2_Intron	NM_018456	NP_060926			ELL associated factor 2						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)														---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121634113	121634113	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121634113T>A	uc003eep.2	+	6	721	c.568T>A	c.(568-570)TCC>ACC	p.S190T	SLC15A2_uc011bjn.1_Missense_Mutation_p.S159T	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	190	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---
CASR	846	broad.mit.edu	37	3	121973127	121973127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121973127G>A	uc003eev.3	+	2	463	c.91G>A	c.(91-93)GAC>AAC	p.D31N	CASR_uc003eew.3_Missense_Mutation_p.D31N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	31	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CASR	846	broad.mit.edu	37	3	122002928	122002928	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122002928G>T	uc003eev.3	+	7	2499	c.2127G>T	c.(2125-2127)AAG>AAT	p.K709N	CASR_uc003eew.3_Missense_Mutation_p.K719N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	709	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
CCDC58	131076	broad.mit.edu	37	3	122087062	122087062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122087062A>T	uc003eey.2	-	3	288	c.285T>A	c.(283-285)GAT>GAA	p.D95E		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	95	Potential.										0				GBM - Glioblastoma multiforme(114;0.148)														---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122133953	122133953	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122133953G>A	uc003efa.1	-	1	930	c.423C>T	c.(421-423)ATC>ATT	p.I141I		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	141	WD 3.									ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)														---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259515	122259515	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122259515T>G	uc010hri.2	-	8	1819	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PARP9_uc003eff.3_Missense_Mutation_p.E523D|PARP9_uc011bjs.1_Missense_Mutation_p.E523D|PARP9_uc003efg.2_Missense_Mutation_p.E103D|PARP9_uc003efi.2_Missense_Mutation_p.E523D|PARP9_uc003efh.2_Missense_Mutation_p.E558D|PARP9_uc003efj.2_Missense_Mutation_p.E523D	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	558					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)														---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287953	122287953	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122287953C>T	uc003efk.2	+	3	1106	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	339					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)														---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122334584	122334584	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122334584T>C	uc003efm.2	+						PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Intron|PARP15_uc003efp.1_Silent_p.L10L|PARP15_uc011bjt.1_Silent_p.L10L	NM_001113523	NP_001106995			poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418877	122418877	+	Silent	SNP	G	A	A	rs144051474	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418877G>A	uc003efq.3	+	6	1535	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.T209T|PARP14_uc003efs.1_Silent_p.T209T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437464	122437464	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122437464A>G	uc003efq.3	+	14	4525	c.4466A>G	c.(4465-4467)GAC>GGC	p.D1489G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D1206G|PARP14_uc003efs.1_Missense_Mutation_p.D1206G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122641228	122641228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122641228G>A	uc003efz.1	-	11	1643	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	SEMA5B_uc011bju.1_Missense_Mutation_p.R389C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R447C|SEMA5B_uc010hro.1_Missense_Mutation_p.R389C|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	447	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122808124	122808124	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122808124T>C	uc003egc.1	+	2	208	c.152T>C	c.(151-153)GTG>GCG	p.V51A	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	51					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869205	122869205	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122869205G>A	uc003egc.1	+	14	1323	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	423	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123018977	123018977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123018977C>T	uc003egh.1	-	15	2890	c.2890G>A	c.(2890-2892)GCC>ACC	p.A964T	ADCY5_uc003egg.1_Missense_Mutation_p.A597T|ADCY5_uc003egi.1_Missense_Mutation_p.A523T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	964					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123166319	123166319	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123166319G>A	uc003egh.1	-	1	1074	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	358					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123376176	123376176	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123376176G>T	uc003ego.2	-	24	4367	c.4085C>A	c.(4084-4086)GCT>GAT	p.A1362D	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.A162D|MYLK_uc011bjw.1_Missense_Mutation_p.A1362D|MYLK_uc003egp.2_Missense_Mutation_p.A1293D|MYLK_uc003egq.2_Missense_Mutation_p.A1362D|MYLK_uc003egr.2_Missense_Mutation_p.A1293D|MYLK_uc003egs.2_Missense_Mutation_p.A1186D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1362	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)														---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123634043	123634043	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123634043T>C	uc011bjx.1	-	13	2536	c.2445A>G	c.(2443-2445)GGA>GGG	p.G815G	CCDC14_uc003egv.3_Silent_p.G456G|CCDC14_uc003egx.3_Silent_p.G615G|CCDC14_uc010hrt.2_Silent_p.G774G|CCDC14_uc003egy.3_Silent_p.G615G|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	815						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124132336	124132336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124132336C>T	uc003ehg.2	+	14	2487	c.2360C>T	c.(2359-2361)GCC>GTC	p.A787V	KALRN_uc010hrv.1_Missense_Mutation_p.A787V|KALRN_uc003ehf.1_Missense_Mutation_p.A787V|KALRN_uc011bjy.1_Missense_Mutation_p.A787V|KALRN_uc003ehh.1_Missense_Mutation_p.A133V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	787					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124215187	124215187	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124215187G>T	uc003ehg.2	+	33	4983	c.4856G>T	c.(4855-4857)GGG>GTG	p.G1619V	KALRN_uc010hrv.1_Missense_Mutation_p.G1610V|KALRN_uc003ehf.1_Missense_Mutation_p.G1619V|KALRN_uc011bjy.1_Missense_Mutation_p.G1610V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1619					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124379771	124379771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124379771A>G	uc003ehg.2	+	44	6342	c.6215A>G	c.(6214-6216)GAC>GGC	p.D2072G	KALRN_uc003ehi.2_Missense_Mutation_p.D413G|KALRN_uc003ehk.2_Missense_Mutation_p.D375G|KALRN_uc011bjz.1_Missense_Mutation_p.D164G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2071	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124415108	124415108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124415108G>T	uc003ehg.2	+						KALRN_uc003ehk.2_Intron	NM_001024660	NP_001019831			kalirin, RhoGEF kinase isoform 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124728610	124728610	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124728610C>A	uc003ehs.3	-	8	3200	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	HEG1_uc011bke.1_Missense_Mutation_p.Q1144H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1044	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124731782	124731782	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124731782G>A	uc003ehs.3	-	6	2709	c.2641C>T	c.(2641-2643)CTC>TTC	p.L881F	HEG1_uc011bke.1_Missense_Mutation_p.L981F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	881	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125271019	125271019	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125271019A>G	uc003eic.2	-							NM_022776	NP_073613			oxysterol binding protein-like 11						lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125651561	125651561	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125651561A>T	uc003eig.1	-							NM_001015050	NP_001015050			asparagine-linked glycosylation 1-like								transferase activity, transferring glycosyl groups				0																		---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125734386	125734386	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125734386A>G	uc003eij.2	-	8	1147	c.921T>C	c.(919-921)GTT>GTC	p.V307V	SLC41A3_uc003eii.2_Silent_p.V281V|SLC41A3_uc003eil.2_Silent_p.V307V|SLC41A3_uc003eik.2_Silent_p.V271V|SLC41A3_uc011bkh.1_Silent_p.V190V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	307						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125741771	125741771	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125741771C>G	uc003eij.2	-	6	829	c.603G>C	c.(601-603)GTG>GTC	p.V201V	SLC41A3_uc003eii.2_Silent_p.V175V|SLC41A3_uc003eil.2_Silent_p.V201V|SLC41A3_uc003eik.2_Silent_p.V165V|SLC41A3_uc011bkh.1_Silent_p.V84V|SLC41A3_uc010hsd.1_Silent_p.V216V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	201	Helical; (Potential).					integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
SLC41A3	54946	broad.mit.edu	37	3	125787043	125787043	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125787043C>T	uc003eij.2	-	2	246	c.20G>A	c.(19-21)CGG>CAG	p.R7Q	SLC41A3_uc003eil.2_Missense_Mutation_p.R7Q|SLC41A3_uc003eik.2_Missense_Mutation_p.R7Q|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.R7Q	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	7						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)														---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125850318	125850318	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125850318G>A	uc003eim.1	-	13	1722	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.A410V|ALDH1L1_uc003eio.2_Missense_Mutation_p.A213V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	511	Aldehyde dehydrogenase.		A -> V (in a colorectal cancer sample; somatic mutation).		10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.A511V(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125879768	125879768	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125879768G>T	uc003eim.1	-	2	245	c.55C>A	c.(55-57)CTG>ATG	p.L19M	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L19M|ALDH1L1_uc010hsf.1_Translation_Start_Site|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_Translation_Start_Site	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	19	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126216888	126216888	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126216888C>T	uc003eiz.1	-						UROC1_uc010hsi.1_Intron	NM_144639	NP_653240			urocanase domain containing 1 isoform 1						histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126224593	126224593	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126224593G>T	uc003eiz.1	-	8	796	c.764C>A	c.(763-765)GCT>GAT	p.A255D	UROC1_uc010hsi.1_Missense_Mutation_p.A255D	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	255					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126730880	126730880	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126730880A>G	uc003ejg.2	+	9	2127	c.2123A>G	c.(2122-2124)AAC>AGC	p.N708S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	731	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126749143	126749143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126749143C>T	uc003ejg.2	+	28	5054	c.5050C>T	c.(5050-5052)CGG>TGG	p.R1684W	PLXNA1_uc003ejh.2_Missense_Mutation_p.R352W	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1707	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327330	127327330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127327330G>A	uc003ejp.2	+	7	1264	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	MCM2_uc011bkm.1_Missense_Mutation_p.V273M|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V287M	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	403					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4																		---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127395250	127395250	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127395250T>C	uc003ejt.2	+	5	544	c.456T>C	c.(454-456)AGT>AGC	p.S152S	ABTB1_uc003ejr.2_Silent_p.S10S|ABTB1_uc003ejs.2_Silent_p.S127S|ABTB1_uc003eju.2_Silent_p.S10S|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	152	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0																		---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127817786	127817786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127817786C>T	uc003ekh.2	-	7	860	c.756G>A	c.(754-756)GGG>GGA	p.G252G	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.G192G|RUVBL1_uc010hss.2_Silent_p.G252G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	252					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127831737	127831737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127831737C>T	uc003ekh.2	-	3	459	c.355G>A	c.(355-357)GCC>ACC	p.A119T	RUVBL1_uc003ekf.2_Missense_Mutation_p.A59T|RUVBL1_uc010hss.2_Missense_Mutation_p.A119T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	119					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127965841	127965841	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127965841T>A	uc003eki.2	+	2	517	c.479T>A	c.(478-480)ATT>AAT	p.I160N	EEFSEC_uc003ekj.2_Missense_Mutation_p.I160N	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	160						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	128077166	128077166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128077166T>C	uc003eki.2	+	6	1588	c.1550T>C	c.(1549-1551)ATC>ACC	p.I517T	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	517						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128707683	128707683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128707683C>T	uc003elj.3	-	3	537	c.341G>A	c.(340-342)CGT>CAT	p.R114H	KIAA1257_uc003elg.1_Missense_Mutation_p.R114H|KIAA1257_uc003eli.3_Missense_Mutation_p.R2H	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	114											0																		---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128711957	128711957	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128711957G>T	uc003elj.3	-	2	387	c.191C>A	c.(190-192)ACT>AAT	p.T64N	KIAA1257_uc003elg.1_Missense_Mutation_p.T64N|KIAA1257_uc003eli.3_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	64											0																		---	---	---	---
GP9	2815	broad.mit.edu	37	3	128780907	128780907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128780907C>T	uc003elm.2	+	3	512	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	109	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)													---	---	---	---
RAB43	339122	broad.mit.edu	37	3	128813922	128813922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128813922C>T	uc003eln.1	-	2	582	c.295G>A	c.(295-297)GAC>AAC	p.D99N	RAB43_uc003elo.1_Silent_p.T314T|RAB43_uc010hsy.1_Missense_Mutation_p.D99N	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	RAB43 protein	99					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	129137111	129137111	+	Missense_Mutation	SNP	C	T	T	rs149643945	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129137111C>T	uc003emg.2	-	3	830	c.667G>A	c.(667-669)GCG>ACG	p.A223T		NM_207307	NP_997190			hypothetical protein LOC90288																														---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129152683	129152683	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129152683A>G	uc003emh.1	-						MBD4_uc003emi.1_Intron|MBD4_uc003emj.1_Intron|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Intron	NM_003925	NP_003916			methyl-CpG binding domain protein 4						depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2													BER_DNA_glycosylases					---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129185775	129185775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129185775C>T	uc003emm.2	+	8	812	c.606C>T	c.(604-606)GCC>GCT	p.A202A	IFT122_uc003eml.2_Silent_p.A253A|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.A52A|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	202					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195221	129195221	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195221T>C	uc003emm.2	+	10	1086	c.880T>C	c.(880-882)TAC>CAC	p.Y294H	IFT122_uc003eml.2_Missense_Mutation_p.Y345H|IFT122_uc003emn.2_Missense_Mutation_p.Y235H|IFT122_uc003emo.2_Missense_Mutation_p.Y183H|IFT122_uc003emp.2_Missense_Mutation_p.Y144H|IFT122_uc010htc.2_Missense_Mutation_p.Y286H|IFT122_uc011bky.1_Missense_Mutation_p.Y85H|IFT122_uc003emq.2_Missense_Mutation_p.Y134H|IFT122_uc003emr.2_Missense_Mutation_p.Y85H|IFT122_uc011bla.1_Missense_Mutation_p.Y85H|IFT122_uc011bkx.1_Missense_Mutation_p.Y134H|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	294	WD 5.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129195527	129195527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129195527A>G	uc003emm.2	+	11	1236	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	IFT122_uc003eml.2_Missense_Mutation_p.T395A|IFT122_uc003emn.2_Missense_Mutation_p.T285A|IFT122_uc003emo.2_Missense_Mutation_p.T233A|IFT122_uc003emp.2_Missense_Mutation_p.T194A|IFT122_uc010htc.2_Missense_Mutation_p.T336A|IFT122_uc011bky.1_Missense_Mutation_p.T135A|IFT122_uc003emq.2_Missense_Mutation_p.T184A|IFT122_uc003emr.2_Missense_Mutation_p.T135A|IFT122_uc011bla.1_Missense_Mutation_p.T135A|IFT122_uc011bkx.1_Missense_Mutation_p.T184A|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	344	WD 6.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129226602	129226602	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129226602C>G	uc003emm.2	+	23	3089	c.2883C>G	c.(2881-2883)CAC>CAG	p.H961Q	IFT122_uc003eml.2_Missense_Mutation_p.H1012Q|IFT122_uc003emn.2_Missense_Mutation_p.H902Q|IFT122_uc003emo.2_Missense_Mutation_p.H851Q|IFT122_uc003emp.2_Missense_Mutation_p.H811Q|IFT122_uc010htc.2_Missense_Mutation_p.H954Q|IFT122_uc011bky.1_Missense_Mutation_p.H752Q|IFT122_uc003emq.2_Missense_Mutation_p.H801Q|IFT122_uc003emr.2_Missense_Mutation_p.H714Q|IFT122_uc011bla.1_Missense_Mutation_p.H735Q|IFT122_uc010hte.2_Missense_Mutation_p.H287Q|IFT122_uc003ems.2_Missense_Mutation_p.H343Q|IFT122_uc011bkx.1_Missense_Mutation_p.H802Q|IFT122_uc010htd.1_Missense_Mutation_p.H440Q	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	961					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
RHO	6010	broad.mit.edu	37	3	129249874	129249874	+	Missense_Mutation	SNP	G	A	A	rs139731264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129249874G>A	uc003emt.2	+	2	612	c.517G>A	c.(517-519)GCC>ACC	p.A173T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	173	Helical; Name=4; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)													---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129279264	129279264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129279264T>C	uc003emx.2	-	31	5142	c.5042A>G	c.(5041-5043)GAC>GGC	p.D1681G	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.D349G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1681	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129304789	129304789	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129304789A>G	uc003emx.2	-							NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695921	129695921	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129695921T>C	uc003enc.2	+	3	1152	c.591T>C	c.(589-591)TGT>TGC	p.C197C		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	197					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130285978	130285978	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130285978T>C	uc010htl.2	+	4	1746	c.1715T>C	c.(1714-1716)ATC>ACC	p.I572T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	572	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130300604	130300604	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130300604A>C	uc010htl.2	+	8	3778	c.3747A>C	c.(3745-3747)AAA>AAC	p.K1249N	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1249	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311908	130311908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311908G>T	uc010htl.2	+	15	4406	c.4375G>T	c.(4375-4377)GAA>TAA	p.E1459*	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1459	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311932	130311932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130311932G>A	uc010htl.2	+	15	4430	c.4399G>A	c.(4399-4401)GGA>AGA	p.G1467R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1467	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130381128	130381128	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130381128A>G	uc010htl.2	+	34	6509	c.6478A>G	c.(6478-6480)AAG>GAG	p.K2160E	COL6A6_uc003eni.3_Missense_Mutation_p.K259E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2160	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130405096	130405096	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130405096G>A	uc003enj.2	-	15	4015	c.3434C>T	c.(3433-3435)ACT>ATT	p.T1145I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1145	WD 4.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130447430	130447430	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130447430T>C	uc003enj.2	-	6	2265	c.1684A>G	c.(1684-1686)ACA>GCA	p.T562A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	562					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682809	130682809	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682809T>C	uc003enl.2	+						ATP2C1_uc011blg.1_Intron|ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enk.2_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003eno.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enq.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197			calcium-transporting ATPase 2C1 isoform 1a						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682820	130682820	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130682820C>T	uc003enl.2	+	13	1127	c.905C>T	c.(904-906)GCT>GTT	p.A302V	ATP2C1_uc011blg.1_Missense_Mutation_p.A336V|ATP2C1_uc011blh.1_Missense_Mutation_p.A297V|ATP2C1_uc011bli.1_Missense_Mutation_p.A336V|ATP2C1_uc003enk.2_Missense_Mutation_p.A286V|ATP2C1_uc003enm.2_Missense_Mutation_p.A302V|ATP2C1_uc003enn.2_Missense_Mutation_p.A286V|ATP2C1_uc003eno.2_Missense_Mutation_p.A302V|ATP2C1_uc003enp.2_Missense_Mutation_p.A302V|ATP2C1_uc003enq.2_Missense_Mutation_p.A302V|ATP2C1_uc003enr.2_Missense_Mutation_p.A302V|ATP2C1_uc003ens.2_Missense_Mutation_p.A302V|ATP2C1_uc003ent.2_Missense_Mutation_p.A302V|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	302	Helical; Name=4; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743433	130743433	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131271320	131271320	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131271320C>A	uc003eok.2	-	13	1567	c.1132G>T	c.(1132-1134)GCA>TCA	p.A378S	CPNE4_uc011blq.1_Missense_Mutation_p.A396S|CPNE4_uc003eol.2_Missense_Mutation_p.A396S|CPNE4_uc003eom.2_Missense_Mutation_p.A378S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	378	VWFA.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131300411	131300411	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131300411T>C	uc003eok.2	-						CPNE4_uc011blq.1_Intron|CPNE4_uc003eol.2_Intron|CPNE4_uc003eom.2_Intron	NM_130808	NP_570720			copine IV											upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132051108	132051108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132051108C>T	uc010htp.2	+	4	466	c.376C>T	c.(376-378)CCA>TCA	p.P126S	ACPP_uc003eon.3_Missense_Mutation_p.P126S|ACPP_uc003eop.3_Missense_Mutation_p.P126S	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	126						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132056293	132056293	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132056293T>A	uc010htp.2	+						ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Intron	NM_001099	NP_001090			acid phosphatase, prostate short isoform							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
ACPP	55	broad.mit.edu	37	3	132068825	132068825	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132068825A>G	uc010htp.2	+	8	933	c.843A>G	c.(841-843)AAA>AAG	p.K281K	ACPP_uc003eon.3_Silent_p.K248K|ACPP_uc003eop.3_Silent_p.K281K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	281						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132202234	132202234	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132202234A>G	uc003eor.2	+	28	3060	c.2995A>G	c.(2995-2997)ACC>GCC	p.T999A		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	999							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132207831	132207831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132207831A>G	uc003eor.2	+	31	3499	c.3434A>G	c.(3433-3435)TAC>TGC	p.Y1145C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1145							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132257035	132257035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132257035G>A	uc003eor.2	+	56	6706	c.6641G>A	c.(6640-6642)GGC>GAC	p.G2214D		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2214							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
CCRL1	51554	broad.mit.edu	37	3	132319590	132319590	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132319590G>A	uc003eow.2	+	2	432	c.349G>A	c.(349-351)GCC>ACC	p.A117T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A117T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	117	Helical; Name=3; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132402349	132402349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132402349A>G	uc003epe.1	-	25	3667	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	NPHP3_uc003eoz.1_Missense_Mutation_p.V76A|NPHP3_uc003epd.1_Missense_Mutation_p.V439A	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1197	TPR 9.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132409456	132409456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132409456G>A	uc003epe.1	-	19	2686	c.2609C>T	c.(2608-2610)CCG>CTG	p.P870L	NPHP3_uc003epd.1_Missense_Mutation_p.P112L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	870					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132432040	132432040	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132432040G>A	uc003epe.1	-	6	1125	c.1048C>T	c.(1048-1050)CTC>TTC	p.L350F	NPHP3_uc003epf.1_Missense_Mutation_p.L105F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	350					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133341983	133341983	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133341983T>C	uc003eps.2	-	19	3262	c.3130A>G	c.(3130-3132)AAA>GAA	p.K1044E	TOPBP1_uc003ept.1_Missense_Mutation_p.K48E	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---
TF	7018	broad.mit.edu	37	3	133473404	133473404	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133473404C>T	uc003epu.1	+	9	2119	c.391C>T	c.(391-393)CTT>TTT	p.L131F	TF_uc011bls.1_Missense_Mutation_p.L131F|TF_uc011blt.1_Missense_Mutation_p.L4F|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L131F	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
TF	7018	broad.mit.edu	37	3	133494403	133494403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133494403C>A	uc003epu.1	+	20	3542	c.1814C>A	c.(1813-1815)GCT>GAT	p.A605D	TF_uc011blt.1_Missense_Mutation_p.A478D|TF_uc003epw.1_Missense_Mutation_p.A44D|TF_uc003epv.1_Missense_Mutation_p.A605D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	605	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133538536	133538536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133538536G>A	uc003epx.1	+	7	758	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	248		GTP; via amide nitrogen (By similarity).				endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133583486	133583486	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133583486A>C	uc003epy.2	-	2	452	c.71T>G	c.(70-72)GTC>GGC	p.V24G	RAB6B_uc011blu.1_Missense_Mutation_p.V11G	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	24	GTP.				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1																		---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134089923	134089923	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134089923G>A	uc003eqf.2	-	2	644	c.527C>T	c.(526-528)GCG>GTG	p.A176V	AMOTL2_uc003eqg.1_Missense_Mutation_p.A118V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A118V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	118										large_intestine(1)	1																		---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134277113	134277113	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134277113A>T	uc003eqo.1	+	14	2046	c.1597A>T	c.(1597-1599)ATG>TTG	p.M533L	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	533	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134323034	134323034	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134323034G>A	uc010hty.2	-	11	1435	c.1373C>T	c.(1372-1374)TCG>TTG	p.S458L	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.S437L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	458						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134338077	134338077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134338077T>C	uc010hty.2	-	8	685	c.623A>G	c.(622-624)GAC>GGC	p.D208G	KY_uc011blw.1_Missense_Mutation_p.D208G|KY_uc011blx.1_Missense_Mutation_p.D187G|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	208						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135720924	135720924	+	Missense_Mutation	SNP	C	T	T	rs138854105		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135720924C>T	uc003eqv.1	+	2	1149	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	195					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721357	135721357	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135721357G>A	uc003eqv.1	+	2	1582	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	339					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135870699	135870699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135870699G>A	uc003eqx.1	-	2	1757	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	MSL2_uc011bmb.1_Nonsense_Mutation_p.R268*	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	342					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136152490	136152490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136152490G>A	uc003era.1	-	16	1850	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	STAG1_uc003erb.1_Missense_Mutation_p.R520C|STAG1_uc003erc.1_Missense_Mutation_p.R294C|STAG1_uc010hua.1_Missense_Mutation_p.R383C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	520					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136323179	136323179	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136323179A>G	uc003era.1	-	4	561	c.269T>C	c.(268-270)GTG>GCG	p.V90A	STAG1_uc003erb.1_Missense_Mutation_p.V90A|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.V90A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	90					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136665098	136665098	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136665098A>G	uc003erh.2	+	3	1007	c.900A>G	c.(898-900)GGA>GGG	p.G300G	NCK1_uc011bme.1_Silent_p.G236G	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	300	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1																		---	---	---	---
IL20RB	53833	broad.mit.edu	37	3	136699431	136699431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136699431A>G	uc003eri.1	+	2	461	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	71	Fibronectin type-III 1.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1																		---	---	---	---
CLDN18	51208	broad.mit.edu	37	3	137749876	137749876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137749876G>A	uc003ero.1	+	5	732	c.679G>A	c.(679-681)GCC>ACC	p.A227T	CLDN18_uc003erp.1_Missense_Mutation_p.A227T|CLDN18_uc010hue.1_Missense_Mutation_p.A183T	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	227	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137991841	137991841	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137991841A>G	uc003esa.1	+	18	1837	c.1470A>G	c.(1468-1470)AAA>AAG	p.K490K	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.K473K|ARMC8_uc011bmg.1_Silent_p.K437K|ARMC8_uc011bmh.1_Silent_p.K431K|ARMC8_uc003esb.1_Silent_p.K462K|ARMC8_uc003esc.1_Silent_p.K262K|ARMC8_uc003esf.1_Silent_p.K73K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	504	ARM 11.						binding				0																		---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138117299	138117299	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138117299T>C	uc003esh.3	+						MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Intron|MRAS_uc011bmj.1_Intron	NM_012219	NP_036351			muscle RAS oncogene homolog precursor						actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138183274	138183274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138183274G>A	uc003esk.2	+	9	1229	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	335	C2 1.					integral to membrane|plasma membrane					0																		---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138191352	138191352	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138191352C>T	uc003esk.2	+	18	2114	c.1888C>T	c.(1888-1890)CCC>TCC	p.P630S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	630						integral to membrane|plasma membrane					0																		---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138224301	138224301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138224301A>G	uc003esl.2	-	13	1255	c.1057T>C	c.(1057-1059)TGT>CGT	p.C353R	CEP70_uc011bmk.1_Missense_Mutation_p.C333R|CEP70_uc011bml.1_Missense_Mutation_p.C335R|CEP70_uc011bmm.1_Missense_Mutation_p.C201R|CEP70_uc003esm.2_Missense_Mutation_p.C353R	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	353					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138383975	138383975	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138383975T>C	uc011bmq.1	-	18	2575	c.2575A>G	c.(2575-2577)ACA>GCA	p.T859A	PIK3CB_uc011bmn.1_Missense_Mutation_p.T371A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T310A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T446A	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	859	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138409870	138409870	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138409870T>A	uc011bmq.1	-	13	2008	c.2008A>T	c.(2008-2010)ATA>TTA	p.I670L	PIK3CB_uc011bmn.1_Missense_Mutation_p.I182L|PIK3CB_uc011bmo.1_Missense_Mutation_p.I116L|PIK3CB_uc011bmp.1_Missense_Mutation_p.I257L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	670	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138453548	138453548	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138453548T>G	uc011bmq.1	-	5	900	c.900A>C	c.(898-900)ATA>ATC	p.I300I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	300					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138461549	138461549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138461549C>T	uc011bmq.1	-	3	472	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	158					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
C3orf72	401089	broad.mit.edu	37	3	138669110	138669110	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138669110C>T	uc003esx.1	+	3	355	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	75											0																		---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163724	141163724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163724A>G	uc003etw.2	+	8	3476	c.2494A>G	c.(2494-2496)AAT>GAT	p.N832D	ZBTB38_uc010hun.2_Missense_Mutation_p.N829D|ZBTB38_uc010huo.2_Missense_Mutation_p.N832D|ZBTB38_uc003ety.2_Missense_Mutation_p.N832D|ZBTB38_uc010hup.2_Missense_Mutation_p.N833D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	832					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141277721	141277721	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141277721T>C	uc003etz.1	+						RASA2_uc010huq.1_Intron|RASA2_uc003eua.1_Intron|RASA2_uc011bnc.1_Intron	NM_006506	NP_006497			RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141497221	141497221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141497221G>A	uc011bnd.1	+	1	179	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141671866	141671866	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141671866A>G	uc003eun.3	-						TFDP2_uc003euk.3_Intron|TFDP2_uc010hur.2_Intron|TFDP2_uc003eul.3_Intron|TFDP2_uc011bnf.1_Intron|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_Intron	NM_006286	NP_006277			transcription factor Dp-2 (E2F dimerization						cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141678643	141678643	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141678643G>C	uc003eun.3	-	11	1303	c.924C>G	c.(922-924)ATC>ATG	p.I308M	TFDP2_uc003euk.3_Missense_Mutation_p.I221M|TFDP2_uc010hur.2_Missense_Mutation_p.I248M|TFDP2_uc003eul.3_Missense_Mutation_p.I248M|TFDP2_uc011bnf.1_Missense_Mutation_p.I211M|TFDP2_uc011bng.1_Missense_Mutation_p.I172M|TFDP2_uc003eum.3_Missense_Mutation_p.I248M	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	308	DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142037739	142037739	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142037739T>C	uc003eus.2	-	38	4475	c.4408A>G	c.(4408-4410)ACC>GCC	p.T1470A	XRN1_uc010huu.2_Missense_Mutation_p.T937A|XRN1_uc003eut.2_Missense_Mutation_p.T1470A|XRN1_uc003euu.2_Missense_Mutation_p.T1471A	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1470					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ATR	545	broad.mit.edu	37	3	142186802	142186802	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142186802T>C	uc003eux.3	-	39	6783	c.6661A>G	c.(6661-6663)AAG>GAG	p.K2221E	ATR_uc003euy.1_Missense_Mutation_p.K107E	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2221					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
ATR	545	broad.mit.edu	37	3	142242991	142242991	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142242991G>T	uc003eux.3	-	22	4118	c.3996C>A	c.(3994-3996)ATC>ATA	p.I1332I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1332	HEAT 2.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20													Other_conserved_DNA_damage_response_genes					---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840751	142840751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142840751C>T	uc003evm.2	+	2	1982	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	365	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142841186	142841186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142841186C>T	uc003evm.2	+	2	2417	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	510	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143185920	143185920	+	Silent	SNP	A	G	G	rs61734421	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143185920A>G	uc003evn.2	-	12	1610	c.1428T>C	c.(1426-1428)TTT>TTC	p.F476F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	476	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143513844	143513844	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143513844C>A	uc003evn.2	-	4	714	c.532G>T	c.(532-534)GGG>TGG	p.G178W	SLC9A9_uc011bnk.1_Missense_Mutation_p.G52W	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	178	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145824343	145824343	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145824343T>G	uc003evs.1	-	5	1097	c.591A>C	c.(589-591)AAA>AAC	p.K197N	PLOD2_uc011bnm.1_Missense_Mutation_p.K142N|PLOD2_uc003evr.1_Missense_Mutation_p.K197N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	197					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146234850	146234850	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146234850G>A	uc003evx.3	-	8	1231	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLSCR1_uc003evy.3_Silent_p.F274F|PLSCR1_uc011bnn.1_Silent_p.F200F|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	281	Cytoplasmic.			F->A: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling.	phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128883	147128883	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147128883T>C	uc003ewe.2	+	1	1701	c.982_splice	c.e1+2	p.G328_splice		NM_003412	NP_003403			zinc finger protein of the cerebellum 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148750057	148750057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148750057C>T	uc003ewq.1	-	25	3198	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K	HLTF_uc003ewr.1_Missense_Mutation_p.E994K|HLTF_uc003ews.1_Missense_Mutation_p.E993K|HLTF_uc010hve.1_Missense_Mutation_p.E993K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	994	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148766639	148766639	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148766639G>A	uc003ewq.1	-						HLTF_uc003ewr.1_Intron|HLTF_uc003ews.1_Intron|HLTF_uc010hve.1_Intron	NM_139048	NP_620636			helicase-like transcription factor						chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---
CP	1356	broad.mit.edu	37	3	148894077	148894077	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148894077A>G	uc003ewy.3	-	18	3394	c.3141T>C	c.(3139-3141)CAT>CAC	p.H1047H	CP_uc011bnr.1_Intron|CP_uc003eww.3_3'UTR|CP_uc003ewx.3_Silent_p.H828H	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	1047	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
CP	1356	broad.mit.edu	37	3	148896212	148896212	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148896212A>T	uc003ewy.3	-	16	3121	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.N108K|CP_uc003ewx.3_Missense_Mutation_p.N737K|CP_uc003ewz.2_Missense_Mutation_p.N956K	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	956	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
TM4SF18	116441	broad.mit.edu	37	3	149051032	149051032	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149051032G>A	uc003exa.2	-	2	275	c.138C>T	c.(136-138)TAC>TAT	p.Y46Y		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	46	Extracellular (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149374675	149374675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149374675C>A	uc003exe.2	-	1	435	c.419G>T	c.(418-420)AGG>ATG	p.R140M	WWTR1_uc003exf.2_Missense_Mutation_p.R140M|WWTR1_uc011bns.1_Missense_Mutation_p.R140M|WWTR1_uc003exh.2_Missense_Mutation_p.R140M|uc010hvg.1_5'Flank|uc003exi.1_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	140	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149468597	149468597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149468597T>C	uc003exk.2	-	4	317	c.270A>G	c.(268-270)GGA>GGG	p.G90G		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	90							protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---
RNF13	11342	broad.mit.edu	37	3	149678562	149678562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149678562A>G	uc003exn.3	+	11	1601	c.817A>G	c.(817-819)AAA>GAA	p.K273E	RNF13_uc003exp.3_Missense_Mutation_p.K273E|RNF13_uc010hvh.2_Missense_Mutation_p.K154E	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	273	Cytoplasmic (Potential).|RING-type; atypical.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149686261	149686261	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149686261T>C	uc003ext.1	-	2	307	c.209A>G	c.(208-210)AAA>AGA	p.K70R	PFN2_uc003exs.1_Missense_Mutation_p.K21R|PFN2_uc003exu.1_Missense_Mutation_p.K70R|PFN2_uc011bnu.1_Missense_Mutation_p.K70R	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	70					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150282089	150282089	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150282089T>G	uc003eya.2	+	6	412	c.396T>G	c.(394-396)TGT>TGG	p.C132W	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.C5W|EIF2A_uc003eyc.2_Missense_Mutation_p.C5W|EIF2A_uc011bnv.1_Missense_Mutation_p.C107W|EIF2A_uc011bnw.1_Intron|EIF2A_uc003eyd.2_5'UTR	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	132	WD 2.				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150460021	150460021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150460021G>A	uc003eyi.2	-	2	1509	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150845683	150845683	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150845683A>G	uc003eyp.2	+	4	506	c.468A>G	c.(466-468)GCA>GCG	p.A156A	MED12L_uc011bnz.1_Silent_p.A156A|MED12L_uc003eym.1_Silent_p.A156A|MED12L_uc003eyn.2_Silent_p.A156A|MED12L_uc003eyo.2_Silent_p.A156A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	156					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150874007	150874007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150874007T>C	uc003eyp.2	+	5	654	c.616T>C	c.(616-618)TAC>CAC	p.Y206H	MED12L_uc011bnz.1_Missense_Mutation_p.Y206H|MED12L_uc003eym.1_Missense_Mutation_p.Y206H|MED12L_uc003eyn.2_Missense_Mutation_p.Y206H|MED12L_uc003eyo.2_Missense_Mutation_p.Y206H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	206					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150881670	150881670	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150881670T>C	uc003eyp.2	+						MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Intron|MED12L_uc003eyo.2_Intron	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012189	151012189	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012189C>A	uc003eyt.2	-	3	1206	c.845G>T	c.(844-846)AGG>ATG	p.R282M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	282	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012373	151012373	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012373T>C	uc003eyt.2	-	3	1022	c.661A>G	c.(661-663)ATT>GTT	p.I221V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	221	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046686	151046686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151046686A>G	uc003eyv.2	-	2	179	c.158T>C	c.(157-159)GTG>GCG	p.V53A	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	53	Helical; Name=1; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)															---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055700	151055700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055700T>C	uc003eyw.1	-	2	1150	c.934A>G	c.(934-936)ATG>GTG	p.M312V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.M312V	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	312	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151055985	151055985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151055985A>G	uc003eyw.1	-	2	865	c.649T>C	c.(649-651)TAC>CAC	p.Y217H	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.Y217H	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	217	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)													---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151085503	151085503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151085503T>C	uc003eyp.2	+	22	3330	c.3292T>C	c.(3292-3294)TCC>CCC	p.S1098P	MED12L_uc011bnz.1_Missense_Mutation_p.S958P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S261P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1098					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151102876	151102876	+	Missense_Mutation	SNP	T	C	C	rs61740424		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151102876T>C	uc003eyp.2	+	34	4918	c.4880T>C	c.(4879-4881)TTG>TCG	p.L1627S	MED12L_uc011bnz.1_Missense_Mutation_p.L1487S|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.L790S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1627					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151129193	151129193	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151129193A>G	uc003eyp.2	+	39	5971	c.5933A>G	c.(5932-5934)AAC>AGC	p.N1978S	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1978	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161304	151161304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151161304T>C	uc011bod.1	-	5	5431	c.5431A>G	c.(5431-5433)AGT>GGT	p.S1811G	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1811	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164151	151164151	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164151T>A	uc011bod.1	-	4	3618	c.3618A>T	c.(3616-3618)CAA>CAT	p.Q1206H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1206					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458527	151458527	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458527T>A	uc003ezc.2	+	2	352	c.232T>A	c.(232-234)TAC>AAC	p.Y78N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	78						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458575	151458575	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151458575T>A	uc003ezc.2	+	2	400	c.280T>A	c.(280-282)TAC>AAC	p.Y94N	AADACL2_uc010hvn.2_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	94						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151474982	151474982	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151474982A>C	uc003ezc.2	+	5	926	c.806A>C	c.(805-807)CAC>CCC	p.H269P	AADACL2_uc010hvn.2_Missense_Mutation_p.H56P	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	269						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
SUCNR1	56670	broad.mit.edu	37	3	151598454	151598454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151598454T>A	uc003ezf.1	+	3	222	c.123T>A	c.(121-123)AAT>AAA	p.N41K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)													---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152554074	152554074	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152554074C>T	uc003ezq.2	+	1	1339	c.503C>T	c.(502-504)GCG>GTG	p.A168V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	168	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)															---	---	---	---
SGEF	26084	broad.mit.edu	37	3	153840495	153840495	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153840495C>G	uc011bog.1	+	2	925	c.714C>G	c.(712-714)AAC>AAG	p.N238K	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.N238K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	238					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154007584	154007584	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154007584T>G	uc003ezy.3	-	16	1927	c.1846A>C	c.(1846-1848)AAT>CAT	p.N616H	DHX36_uc010hvq.2_Missense_Mutation_p.N602H|DHX36_uc003ezz.3_Missense_Mutation_p.N616H	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	616	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154033048	154033048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154033048A>G	uc003ezy.3	-	3	471	c.390T>C	c.(388-390)ACT>ACC	p.T130T	DHX36_uc010hvq.2_Silent_p.T130T|DHX36_uc003ezz.3_Silent_p.T130T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	130	Potential.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154146892	154146892	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154146892G>T	uc003faa.2	-	1	613	c.513C>A	c.(511-513)GGC>GGA	p.G171G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
MME	4311	broad.mit.edu	37	3	154834710	154834710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154834710A>G	uc010hvr.1	+	7	800	c.589A>G	c.(589-591)AAA>GAA	p.K197E	MME_uc003fab.1_Missense_Mutation_p.K197E|MME_uc003fac.1_Missense_Mutation_p.K197E|MME_uc003fad.1_Missense_Mutation_p.K197E|MME_uc003fae.1_Missense_Mutation_p.K197E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	197	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155210593	155210593	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155210593C>T	uc011bok.1	-	17	2473	c.2196G>A	c.(2194-2196)AAG>AAA	p.K732K	PLCH1_uc011boj.1_Silent_p.K732K|PLCH1_uc011bol.1_Silent_p.K714K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	732	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232571	155232571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232571A>G	uc011bok.1	-	11	1814	c.1537T>C	c.(1537-1539)TTC>CTC	p.F513L	PLCH1_uc011boj.1_Missense_Mutation_p.F513L|PLCH1_uc011bol.1_Missense_Mutation_p.F495L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	513					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232581	155232581	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155232581A>T	uc011bok.1	-	11	1804	c.1527T>A	c.(1525-1527)GAT>GAA	p.D509E	PLCH1_uc011boj.1_Missense_Mutation_p.D509E|PLCH1_uc011bol.1_Missense_Mutation_p.D491E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	509					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155314063	155314063	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155314063G>A	uc011bok.1	-	2	425	c.148C>T	c.(148-150)CGC>TGC	p.R50C	PLCH1_uc011boj.1_Missense_Mutation_p.R50C|PLCH1_uc011bol.1_Missense_Mutation_p.R32C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	50	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155551721	155551721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155551721A>G	uc003fan.3	-	3	1454	c.1073T>C	c.(1072-1074)ATA>ACA	p.I358T	SLC33A1_uc003fao.1_Missense_Mutation_p.I358T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	358	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155571069	155571069	+	Missense_Mutation	SNP	A	G	G	rs145201278		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155571069A>G	uc003fan.3	-	1	1099	c.718T>C	c.(718-720)TTT>CTT	p.F240L	SLC33A1_uc003fao.1_Missense_Mutation_p.F240L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	240	Extracellular (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---
GMPS	8833	broad.mit.edu	37	3	155624029	155624029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155624029C>T	uc003faq.2	+	5	838	c.503C>T	c.(502-504)GCA>GTA	p.A168V	GMPS_uc011bom.1_Missense_Mutation_p.A69V	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	168	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			T	MLL	AML								---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156139398	156139398	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156139398A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156170729	156170729	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156170729A>T	uc003far.2	+						KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc003fat.2_Intron|KCNAB1_uc010hvt.1_Intron	NM_172160	NP_751892			potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156241671	156241671	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156241671A>C	uc003far.2	+	12	1080	c.1016A>C	c.(1015-1017)AAC>ACC	p.N339T	KCNAB1_uc011bon.1_Missense_Mutation_p.N310T|KCNAB1_uc003fas.2_Missense_Mutation_p.N328T|KCNAB1_uc003fat.2_Missense_Mutation_p.N321T|KCNAB1_uc010hvt.1_Missense_Mutation_p.N292T|KCNAB1_uc011boo.1_Missense_Mutation_p.N215T	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	339						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	156979019	156979019	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156979019C>A	uc003fbj.1	-	14	2723	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	VEPH1_uc003fbk.1_Missense_Mutation_p.K802N|VEPH1_uc010hvu.1_Missense_Mutation_p.K757N	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	802	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157031509	157031509	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157031509A>G	uc003fbj.1	-	11	2228	c.1911T>C	c.(1909-1911)CAT>CAC	p.H637H	VEPH1_uc003fbk.1_Silent_p.H637H|VEPH1_uc010hvu.1_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	637						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158366884	158366884	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158366884T>A	uc003fce.2	+	5	734	c.627T>A	c.(625-627)GGT>GGA	p.G209G	GFM1_uc003fcd.2_Silent_p.G209G|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.G121G	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	209					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158369951	158369951	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158369951G>A	uc003fce.2	+	6	863	c.756G>A	c.(754-756)GAG>GAA	p.E252E	GFM1_uc003fcd.2_Silent_p.E252E|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.E183E	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	252					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158408121	158408121	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158408121T>A	uc003fce.2	+						GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron	NM_024996	NP_079272			G elongation factor, mitochondrial 1 precursor						mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160099392	160099392	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160099392A>G	uc011boy.1	-	3	591	c.158T>C	c.(157-159)CTT>CCT	p.L53P	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	53						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160122366	160122366	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160122366T>A	uc003fdh.2	+						IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Intron|SMC4_uc003fdg.1_Intron|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Intron|SMC4_uc010hwd.2_Intron|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800			SMC4 structural maintenance of chromosomes						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160146611	160146611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160146611A>G	uc003fdh.2	+	18	2789	c.2676A>G	c.(2674-2676)GTA>GTG	p.V892V	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.V867V|SMC4_uc003fdj.2_Silent_p.V892V|SMC4_uc010hwd.2_Silent_p.V892V|SMC4_uc003fdl.2_Silent_p.V595V	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	892	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160155817	160155817	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160155817T>C	uc003fdm.2	-	3	1350	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	IFT80_uc003fda.2_Intron	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	385						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160951189	160951189	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160951189A>G	uc003feb.1	+	5	398	c.279A>G	c.(277-279)GTA>GTG	p.V93V	NMD3_uc003fec.2_Silent_p.V93V|NMD3_uc003fed.1_Silent_p.V93V|NMD3_uc010hwh.2_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	93					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---
Unknown	0	broad.mit.edu	37	3	161146942	161146942	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:161146942A>G								C3orf57 (57071 upstream) : OTOL1 (67654 downstream)																																			---	---	---	---
SI	6476	broad.mit.edu	37	3	164750471	164750471	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164750471C>G	uc003fei.2	-	24	2637	c.2575G>C	c.(2575-2577)GAT>CAT	p.D859H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	859	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164764647	164764647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164764647A>G	uc003fei.2	-	16	1931	c.1869T>C	c.(1867-1869)AGT>AGC	p.S623S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	623	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SI	6476	broad.mit.edu	37	3	164772976	164772976	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164772976A>G	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906123	164906123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906123C>T	uc003fej.3	-	2	2940	c.2496G>A	c.(2494-2496)ACG>ACA	p.T832T	SLITRK3_uc003fek.2_Silent_p.T832T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	832	Cytoplasmic (Potential).					integral to membrane		p.T832M(1)		ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547744	165547744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165547744A>G	uc003fem.3	-	2	1238	c.1078T>C	c.(1078-1080)TAT>CAT	p.Y360H	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	360					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189553	167189553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189553G>A	uc003fer.1	-	1	128	c.70C>T	c.(70-72)CAA>TAA	p.Q24*	SERPINI2_uc003fes.1_Nonsense_Mutation_p.Q34*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q24*	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	24					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167422672	167422672	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167422672T>A	uc003fex.2	-	4	506	c.108A>T	c.(106-108)GTA>GTT	p.V36V	PDCD10_uc003fez.2_Silent_p.V36V|PDCD10_uc003fey.2_Silent_p.V36V	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	36					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833263	168833263	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168833263T>C	uc003ffi.3	-	7	2102	c.1833A>G	c.(1831-1833)GGA>GGG	p.G611G	MECOM_uc010hwk.1_Silent_p.G634G|MECOM_uc003ffj.3_Silent_p.G676G|MECOM_uc011bpi.1_Silent_p.G612G|MECOM_uc003ffn.3_Silent_p.G611G|MECOM_uc003ffk.2_Silent_p.G611G|MECOM_uc003ffl.2_Silent_p.G771G|MECOM_uc011bpj.1_Silent_p.G799G|MECOM_uc011bpk.1_Silent_p.G601G|MECOM_uc010hwn.2_Silent_p.G799G	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	611					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168864280	168864280	+	5'Flank	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168864280C>T	uc003ffi.3	-						MECOM_uc003ffj.3_5'Flank|MECOM_uc011bpi.1_5'Flank|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_5'Flank	NM_005241	NP_005232			MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	169099286	169099286	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169099286G>A	uc011bpj.1	-	2	467	c.64C>T	c.(64-66)CCT>TCT	p.P22S	MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P22S|MECOM_uc011bpl.1_Missense_Mutation_p.P22S	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R22C(1)		lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169497203	169497203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169497203A>G	uc003fft.2	+	3	1343	c.914A>G	c.(913-915)AAC>AGC	p.N305S	MYNN_uc011bpm.1_Missense_Mutation_p.N191S|MYNN_uc003ffu.2_Missense_Mutation_p.N305S|MYNN_uc003ffv.2_Missense_Mutation_p.N32S|MYNN_uc010hwo.2_Missense_Mutation_p.N305S|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	305	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169574164T>A	uc003fgc.1	-	5	860	c.783A>T	c.(781-783)TTA>TTT	p.L261F	LRRC31_uc010hwp.1_Missense_Mutation_p.L205F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261	LRR 2.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169801907	169801907	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169801907C>T	uc003fgi.2	+	4	737	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPR160_uc010hwq.2_Silent_p.N49N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169802241	169802241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169802241T>C	uc003fgi.2	+	4	1071	c.481T>C	c.(481-483)TAC>CAC	p.Y161H	GPR160_uc010hwq.2_Missense_Mutation_p.Y161H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	161	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169831155	169831155	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169831155A>G	uc010hws.1	-	11	2374	c.2310T>C	c.(2308-2310)ATT>ATC	p.I770I	PHC3_uc003fgl.2_Silent_p.I782I|PHC3_uc011bpq.1_Silent_p.I729I	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	770					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	169953064	169953064	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169953064C>A	uc003fgs.2	+	2	386	c.148C>A	c.(148-150)CTT>ATT	p.L50I		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	50	Regulatory domain.|OPR.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170219127	170219127	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170219127G>T	uc003fgz.2	-	3	628	c.312C>A	c.(310-312)TGC>TGA	p.C104*	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	104						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170244439	170244439	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170244439A>T	uc003fgz.2	-	2	603	c.287T>A	c.(286-288)GTC>GAC	p.V96D	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	96	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170885049	170885049	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170885049A>T	uc003fhh.2	-	10	1129	c.784T>A	c.(784-786)TTC>ATC	p.F262I	TNIK_uc003fhi.2_Missense_Mutation_p.F262I|TNIK_uc003fhj.2_Missense_Mutation_p.F262I|TNIK_uc003fhk.2_Missense_Mutation_p.F262I|TNIK_uc003fhl.2_Missense_Mutation_p.F262I|TNIK_uc003fhm.2_Missense_Mutation_p.F262I|TNIK_uc003fhn.2_Missense_Mutation_p.F262I|TNIK_uc003fho.2_Missense_Mutation_p.F262I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	262	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170945964	170945964	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170945964T>A	uc003fhh.2	-	3	515	c.170A>T	c.(169-171)GAT>GTT	p.D57V	TNIK_uc003fhi.2_Missense_Mutation_p.D57V|TNIK_uc003fhj.2_Missense_Mutation_p.D57V|TNIK_uc003fhk.2_Missense_Mutation_p.D57V|TNIK_uc003fhl.2_Missense_Mutation_p.D57V|TNIK_uc003fhm.2_Missense_Mutation_p.D57V|TNIK_uc003fhn.2_Missense_Mutation_p.D57V|TNIK_uc003fho.2_Missense_Mutation_p.D57V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	57	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171455832	171455832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171455832T>C	uc003fhs.2	-	2	126	c.10A>G	c.(10-12)AAA>GAA	p.K4E	PLD1_uc003fht.2_Missense_Mutation_p.K4E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	4					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172055197	172055197	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172055197G>T	uc003fhy.2	+						FNDC3B_uc003fhz.3_Intron|FNDC3B_uc003fia.2_Missense_Mutation_p.V551F	NM_022763	NP_073600			fibronectin type III domain containing 3B							endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165751	172165751	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172165751G>A	uc003fib.1	-	1	453	c.453C>T	c.(451-453)GCC>GCT	p.A151A	GHSR_uc011bpv.1_Silent_p.A151A	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	151	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172473166	172473166	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172473166T>C	uc003fii.2	+	3	348	c.210_splice	c.e3+2	p.K70_splice	ECT2_uc010hwv.1_Splice_Site_p.K70_splice|ECT2_uc003fih.2_Splice_Site_p.K69_splice|ECT2_uc003fij.1_Splice_Site_p.K70_splice|ECT2_uc003fik.1_Splice_Site_p.K70_splice|ECT2_uc003fil.1_Splice_Site_p.K70_splice	NM_018098	NP_060568			epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172482158	172482158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172482158C>T	uc003fii.2	+	11	1204	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	ECT2_uc010hwv.1_Missense_Mutation_p.L387F|ECT2_uc003fih.2_Missense_Mutation_p.L355F|ECT2_uc003fij.1_Missense_Mutation_p.L356F|ECT2_uc003fik.1_Missense_Mutation_p.L356F|ECT2_uc003fil.1_Missense_Mutation_p.L387F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	356					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172607409C>T	uc003fin.3	-	11	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)															---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173999064	173999064	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173999064C>T	uc003fio.1	+	7	2866	c.2443C>T	c.(2443-2445)CCC>TCC	p.P815S	NLGN1_uc003fip.1_Missense_Mutation_p.P815S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	832	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178748682	178748682	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178748682G>T	uc003fjg.2	-	3	635	c.376C>A	c.(376-378)CCA>ACA	p.P126T	ZMAT3_uc010hxa.2_Missense_Mutation_p.P126T|ZMAT3_uc003fji.2_Missense_Mutation_p.P126T	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	126					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)															---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178917660	178917660	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178917660A>G	uc003fjk.2	+	3	692	c.535A>G	c.(535-537)AAG>GAG	p.K179E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	179	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K179T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921493	178921493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178921493A>G	uc003fjk.2	+	5	1132	c.975A>G	c.(973-975)AAA>AAG	p.K325K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	325					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178927472	178927472	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178927472G>A	uc003fjk.2	+	7	1392	c.1235G>A	c.(1234-1236)CGA>CAA	p.R412Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	412	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936097	178936097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178936097G>A	uc003fjk.2	+	10	1796	c.1639G>A	c.(1639-1641)GAG>AAG	p.E547K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	547	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E547K(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	G	G	rs121913279		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179052007	179052007	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179052007T>C	uc003fjq.1	+	6	1598	c.1255T>C	c.(1255-1257)TGC>CGC	p.C419R	ZNF639_uc003fjr.1_Missense_Mutation_p.C419R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	419	Interaction with CTNNA2.|C2H2-type 6.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179093044	179093044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179093044G>A	uc003fjs.2	+	10	1138	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E366K|MFN1_uc010hxc.2_Missense_Mutation_p.E191K	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	338	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179095217	179095217	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179095217T>C	uc003fjs.2	+	12	1436	c.1310T>C	c.(1309-1311)GTA>GCA	p.V437A	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V465A|MFN1_uc010hxc.2_Missense_Mutation_p.V290A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	437	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179104341	179104341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179104341T>C	uc003fjs.2	+	16	2062	c.1936T>C	c.(1936-1938)TTT>CTT	p.F646L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F674L|MFN1_uc010hxc.2_Missense_Mutation_p.F388L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	646	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292257	179292257	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179292257T>C	uc003fjw.2	+	5	649	c.476_splice	c.e5+2	p.A159_splice	ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice	NM_004301	NP_004292			actin-like 6A isoform 1						chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179294685	179294685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179294685A>G	uc003fjw.2	+	8	925	c.752A>G	c.(751-753)CAC>CGC	p.H251R	ACTL6A_uc003fjx.2_Missense_Mutation_p.H209R|ACTL6A_uc003fjy.2_Missense_Mutation_p.H209R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	251					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179310501	179310501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179310501G>A	uc003fjz.2	-	6	582	c.560C>T	c.(559-561)CCT>CTT	p.P187L	MRPL47_uc003fka.2_Missense_Mutation_p.P77L|MRPL47_uc003fkb.2_Missense_Mutation_p.P167L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	187					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180322027A>C	uc003fkk.2	+	4	633	c.501A>C	c.(499-501)TTA>TTC	p.L167F	TTC14_uc003fkl.2_Missense_Mutation_p.L167F|TTC14_uc003fkm.2_Missense_Mutation_p.L167F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	167	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327713	180327713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180327713T>C	uc003fkk.2	+	12	1828	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.Y566H	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	566							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180364906	180364906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180364906A>G	uc010hxe.2	-	11	1603	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	496	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666128	180666128	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180666128C>A	uc003fkq.2	+						FXR1_uc003fkp.2_Intron|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Intron|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Intron	NM_005087	NP_005078			fragile X mental retardation-related protein 1						apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180686004	180686004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180686004G>A	uc003fkq.2	+	14	1386	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	FXR1_uc003fkp.2_Missense_Mutation_p.R370H|FXR1_uc003fkr.2_Missense_Mutation_p.R455H|FXR1_uc011bqj.1_Missense_Mutation_p.R369H|FXR1_uc003fks.2_Missense_Mutation_p.R398H|FXR1_uc011bqk.1_Missense_Mutation_p.R406H|FXR1_uc011bql.1_Missense_Mutation_p.R442H	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	455	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)															---	---	---	---
DNAJC19	131118	broad.mit.edu	37	3	180703789	180703789	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180703789T>C	uc003fkt.2	-						DNAJC19_uc003fku.2_Intron	NM_145261	NP_660304			DnaJ homolog, subfamily C, member 19						genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182598714	182598714	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182598714T>A	uc003flb.2	+	21	2711	c.2454T>A	c.(2452-2454)GCT>GCA	p.A818A	ATP11B_uc003flc.2_Silent_p.A402A|ATP11B_uc011bqm.1_Silent_p.A122A|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	818	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182605474	182605474	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182605474T>C	uc003flb.2	+	24	3073	c.2816T>C	c.(2815-2817)GTG>GCG	p.V939A	ATP11B_uc003flc.2_Missense_Mutation_p.V523A|ATP11B_uc011bqm.1_Silent_p.C219C|ATP11B_uc010hxf.1_Missense_Mutation_p.V101A	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	939	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183013131	183013131	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183013131T>C	uc003fli.1	-	13	1722	c.1632A>G	c.(1630-1632)TCA>TCG	p.S544S	MCF2L2_uc003flj.1_Silent_p.S544S|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	544					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183209848	183209848	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183209848C>T	uc003flr.2	-	7	1791	c.1733G>A	c.(1732-1734)TGC>TAC	p.C578Y	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	578	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183368392	183368392	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183368392T>C	uc003flv.2	+	3	543	c.248T>C	c.(247-249)GTG>GCG	p.V83A	KLHL24_uc003flw.2_Missense_Mutation_p.V83A|KLHL24_uc003flx.2_Missense_Mutation_p.V83A	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	83	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183390214	183390214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183390214A>G	uc003flv.2	+	7	1839	c.1544A>G	c.(1543-1545)TAC>TGC	p.Y515C	KLHL24_uc003flw.2_Missense_Mutation_p.Y515C|KLHL24_uc003flx.2_Missense_Mutation_p.Y515C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	515	Kelch 5.			Y -> C (in Ref. 3; BAB15447).		axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183435470	183435470	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183435470T>C	uc003fly.2	+	3	327	c.132T>C	c.(130-132)ACT>ACC	p.T44T		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	44					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183479352	183479352	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183479352A>G	uc003fly.2	+	14	1909	c.1714A>G	c.(1714-1716)AAG>GAG	p.K572E		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183660562	183660562	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183660562G>A	uc003fmg.2	-	25	3812	c.3647C>T	c.(3646-3648)ACG>ATG	p.T1216M	ABCC5_uc011bqt.1_Missense_Mutation_p.T744M|ABCC5_uc010hxl.2_Missense_Mutation_p.T1173M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1216	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183663738	183663738	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183663738A>C	uc003fmg.2	-						ABCC5_uc011bqt.1_Intron|ABCC5_uc010hxl.2_Intron	NM_005688	NP_005679			ATP-binding cassette, sub-family C, member 5							integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700588	183700588	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183700588T>A	uc003fmg.2	-	6	964	c.799A>T	c.(799-801)AAC>TAC	p.N267Y	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.N267Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	267	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183854437	183854437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183854437A>G	uc003fmp.2	+	2	597	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	EIF2B5_uc010hxs.2_Missense_Mutation_p.Y78C|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	78					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183911336	183911336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183911336G>A	uc003fmz.2	+	21	2113	c.1980G>A	c.(1978-1980)GTG>GTA	p.V660V	ABCF3_uc003fna.2_Silent_p.V654V|ABCF3_uc003fnb.2_Silent_p.V341V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	660	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183976238	183976238	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183976238G>A	uc003fni.3	+						ECE2_uc003fnh.3_Missense_Mutation_p.G215R	NM_014693	NP_055508			endothelin converting enzyme 2 isoform A						brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184025236	184025236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184025236C>T	uc003fnn.1	+	17	2159	c.2126C>T	c.(2125-2127)ACC>ATC	p.T709I	PSMD2_uc011brj.1_Missense_Mutation_p.T550I|PSMD2_uc011brk.1_Missense_Mutation_p.T579I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	709	PC 6.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046703	184046703	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184046703T>A	uc003fnp.2	+	28	4284	c.4086T>A	c.(4084-4086)ATT>ATA	p.I1362I	EIF4G1_uc003fnt.2_Silent_p.I1073I|EIF4G1_uc003fnq.2_Silent_p.I1275I|EIF4G1_uc003fnr.2_Silent_p.I1198I|EIF4G1_uc010hxx.2_Silent_p.I1369I|EIF4G1_uc003fns.2_Silent_p.I1322I|EIF4G1_uc010hxy.2_Silent_p.I1369I|EIF4G1_uc003fnv.3_Silent_p.I1363I|EIF4G1_uc003fnu.3_Silent_p.I1362I|EIF4G1_uc003fnw.2_Silent_p.I1369I|EIF4G1_uc003fnx.2_Silent_p.I1167I|EIF4G1_uc003fny.3_Silent_p.I1166I|EIF4G1_uc003foa.2_Silent_p.I34I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1362	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184049520	184049520	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184049520A>T	uc003fnp.2	+	31	4598	c.4400A>T	c.(4399-4401)AAC>ATC	p.N1467I	EIF4G1_uc003fnt.2_Missense_Mutation_p.N1178I|EIF4G1_uc003fnq.2_Missense_Mutation_p.N1380I|EIF4G1_uc003fnr.2_Missense_Mutation_p.N1303I|EIF4G1_uc010hxx.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fns.2_Missense_Mutation_p.N1427I|EIF4G1_uc010hxy.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnv.3_Missense_Mutation_p.N1468I|EIF4G1_uc003fnu.3_Missense_Mutation_p.N1467I|EIF4G1_uc003fnw.2_Missense_Mutation_p.N1474I|EIF4G1_uc003fnx.2_Missense_Mutation_p.N1272I|EIF4G1_uc003fny.3_Missense_Mutation_p.N1271I|EIF4G1_uc003foa.2_Missense_Mutation_p.N139I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1467	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184062678	184062678	+	Missense_Mutation	SNP	C	T	T	rs148217150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184062678C>T	uc003fog.2	+	3	2292	c.928C>T	c.(928-930)CGG>TGG	p.R310W	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Missense_Mutation_p.R256W|FAM131A_uc003foe.2_Missense_Mutation_p.R256W	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	310						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184069837	184069837	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184069837A>G	uc003foi.2	-	22	2503	c.2379T>C	c.(2377-2379)GCT>GCC	p.A793A	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Silent_p.A776A|CLCN2_uc011brl.1_Silent_p.A793A|CLCN2_uc011brm.1_Silent_p.A749A	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	793	CBS 2.|Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075458	184075458	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184075458G>A	uc003foi.2	-	7	846	c.722C>T	c.(721-723)GCT>GTT	p.A241V	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A241V|CLCN2_uc011brl.1_Missense_Mutation_p.A241V|CLCN2_uc011brm.1_Missense_Mutation_p.A197V|CLCN2_uc011brn.1_Missense_Mutation_p.A241V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	241						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---
THPO	7066	broad.mit.edu	37	3	184090537	184090537	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184090537A>G	uc003fol.1	-	6	1041	c.826T>C	c.(826-828)TCA>CCA	p.S276P	THPO_uc003fom.1_Missense_Mutation_p.S272P|THPO_uc003fon.2_Missense_Mutation_p.L237P|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.L233P|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.L197P	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	276					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184290963	184290963	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184290963C>T	uc003foz.2	+	3	1292	c.855C>T	c.(853-855)CGC>CGT	p.R285R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	285	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298290	184298290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184298290A>G	uc003foz.2	+	12	2710	c.2273A>G	c.(2272-2274)GAC>GGC	p.D758G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	758	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).				integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184632771	184632771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184632771G>A	uc003fpb.1	+	26	2357	c.2186G>A	c.(2185-2187)TGT>TAT	p.C729Y	VPS8_uc010hyd.1_Missense_Mutation_p.C639Y|VPS8_uc010hye.1_Missense_Mutation_p.C158Y	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	731							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910033	184910033	+	Missense_Mutation	SNP	G	A	A	rs140662313		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184910033G>A	uc003fpf.2	-	7	2180	c.2153C>T	c.(2152-2154)TCC>TTC	p.S718F	EHHADH_uc011brs.1_Missense_Mutation_p.S622F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922382	184922382	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184922382G>T	uc003fpf.2	-	6	759	c.732C>A	c.(730-732)CCC>CCA	p.P244P	EHHADH_uc011brs.1_Silent_p.P148P	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	244	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184935912	184935912	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184935912T>G	uc003fpf.2	-						EHHADH_uc011brs.1_Intron	NM_001966	NP_001957			enoyl-Coenzyme A, hydratase/3-hydroxyacyl							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
ETV5	2119	broad.mit.edu	37	3	185782253	185782253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185782253C>T	uc003fpz.2	-	9	1170	c.923G>A	c.(922-924)TGC>TAC	p.C308Y	ETV5_uc003fpy.2_Missense_Mutation_p.C350Y	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	308					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)					T	TMPRSS2|SCL45A3	Prostate 								---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185993329	185993329	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185993329T>C	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185997631	185997631	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185997631T>G	uc003fqa.2	-						DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron	NM_001346	NP_001337			diacylglycerol kinase gamma isoform 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---
CRYGS	1427	broad.mit.edu	37	3	186256574	186256574	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186256574A>G	uc003fqe.2	-	3	500	c.448T>C	c.(448-450)TAC>CAC	p.Y150H	CRYGS_uc003fqf.2_Missense_Mutation_p.Y150H	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	150	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)														---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186364090	186364090	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186364090T>C	uc010hyq.2	+	6	909	c.648T>C	c.(646-648)TGT>TGC	p.C216C	FETUB_uc011brz.1_Silent_p.C68C|FETUB_uc003fqn.2_Silent_p.C216C|FETUB_uc003fqo.2_Silent_p.C111C|FETUB_uc010hyr.2_Silent_p.C179C|FETUB_uc010hys.2_Silent_p.C68C|FETUB_uc003fqp.3_Silent_p.C151C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	216	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)														---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186459531	186459531	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186459531G>A	uc011bsa.1	+	10	1558	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	449	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)													---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186505288	186505288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186505288G>A	uc003fqs.2	+	9	953	c.914G>A	c.(913-915)GGT>GAT	p.G305D	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.G306D|EIF4A2_uc003fqv.2_Missense_Mutation_p.G210D|EIF4A2_uc003fqw.2_Missense_Mutation_p.G210D|EIF4A2_uc011bsb.1_Missense_Mutation_p.G178D|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	305	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)				T	BCL6	NHL								---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690672	189690672	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690672C>T	uc011bsk.1	-	11	2078	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	LEPREL1_uc003fsg.2_Missense_Mutation_p.A383T	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	564	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189690757	189690757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690757G>A	uc011bsk.1	-	11	1993	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	LEPREL1_uc003fsg.2_Silent_p.S354S	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	535					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190158100	190158100	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190158100T>A	uc003fsj.2	-	4	304	c.237A>T	c.(235-237)AGA>AGT	p.R79S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	79						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190341190	190341190	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190341190A>T	uc003fsm.1	+	7	967	c.761A>T	c.(760-762)TAT>TTT	p.Y254F	IL1RAP_uc003fsk.2_Missense_Mutation_p.Y254F|IL1RAP_uc003fsl.2_Missense_Mutation_p.Y254F|IL1RAP_uc010hzf.2_Missense_Mutation_p.Y113F|IL1RAP_uc010hzg.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.Y254F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.Y254F	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	254	Extracellular (Potential).|Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190366254	190366254	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190366254C>A	uc003fsm.1	+	12	1679	c.1473C>A	c.(1471-1473)GCC>GCA	p.A491A	IL1RAP_uc010hzg.1_Silent_p.A491A|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.A491A|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	491	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)														---	---	---	---
OSTN	344901	broad.mit.edu	37	3	190930420	190930420	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190930420A>G	uc011bsn.1	+	1	99	c.99A>G	c.(97-99)ACA>ACG	p.T33T		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	33					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)														---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192125880	192125880	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192125880C>T	uc003fsx.2	-	1	959	c.133G>A	c.(133-135)GTC>ATC	p.V45I	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	45					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)														---	---	---	---
C3orf59	151963	broad.mit.edu	37	3	192516331	192516331	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516331T>A	uc011bsp.1	-	2	1641	c.1320A>T	c.(1318-1320)CCA>CCT	p.P440P		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	440											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193039614	193039614	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193039614C>A	uc011bsq.1	-	16	1771	c.1771G>T	c.(1771-1773)GCC>TCC	p.A591S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193071938	193071938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193071938A>G	uc011bsq.1	-	6	584	c.584T>C	c.(583-585)ATA>ACA	p.I195T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193210730	193210730	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193210730A>G	uc003ftd.2	-	5	617	c.509T>C	c.(508-510)TTG>TCG	p.L170S	ATP13A4_uc003fte.1_Missense_Mutation_p.L170S|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	170	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193353272	193353272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193353272G>A	uc003ftm.2	+	7	978	c.744G>A	c.(742-744)TTG>TTA	p.L248L	OPA1_uc003ftg.2_Silent_p.L303L|OPA1_uc003fth.2_Silent_p.L267L|OPA1_uc003fti.2_Silent_p.L285L|OPA1_uc003ftj.2_Silent_p.L266L|OPA1_uc003ftk.2_Silent_p.L249L|OPA1_uc003ftl.2_Silent_p.L230L|OPA1_uc003ftn.2_Silent_p.L212L	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	248	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062642	194062642	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194062642G>T	uc003fts.2	-	2	880	c.790C>A	c.(790-792)CTG>ATG	p.L264M		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	264					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)														---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	A	A	rs113394891	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194080147G>A	uc003ftu.2	-	2	1712	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	LRRC15_uc003ftt.2_Silent_p.A548A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	542	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)														---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118737	194118737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194118737C>A	uc003ftv.1	-	2	306	c.275G>T	c.(274-276)GGC>GTC	p.G92V		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	92	LRR 1.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)														---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194158135	194158135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194158135A>G	uc003fty.3	-	18	2306	c.1904T>C	c.(1903-1905)ATG>ACG	p.M635T	ATP13A3_uc003ftz.1_Missense_Mutation_p.M341T	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	635					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)														---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195485993	195485993	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195485993A>G	uc011bto.1	-	18	15062	c.14602_splice	c.e18+1	p.E4868_splice	MUC4_uc003fuz.2_Splice_Site_p.E594_splice|MUC4_uc003fva.2_Splice_Site_p.E476_splice|MUC4_uc003fvb.2_Splice_Site_p.E512_splice|MUC4_uc003fvc.2_Splice_Site|MUC4_uc003fvd.2_Splice_Site|MUC4_uc003fve.2_Splice_Site_p.E512_splice|MUC4_uc010hzr.2_Splice_Site|MUC4_uc011btf.1_Splice_Site_p.E476_splice|MUC4_uc011btg.1_Splice_Site|MUC4_uc011bth.1_Splice_Site_p.E560_splice|MUC4_uc011bti.1_Splice_Site_p.E560_splice|MUC4_uc011btj.1_Splice_Site_p.E737_splice|MUC4_uc011btk.1_Splice_Site_p.E476_splice|MUC4_uc011btl.1_Splice_Site_p.E505_splice|MUC4_uc011btm.1_Splice_Site_p.E685_splice|MUC4_uc011btn.1_Splice_Site_p.E476_splice|MUC4_uc003fvo.2_Splice_Site_p.E760_splice|MUC4_uc003fvp.2_Splice_Site_p.E709_splice	NM_018406	NP_060876			mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195785242	195785242	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195785242A>G	uc003fvz.3	-						TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron	NM_003234	NP_003225			transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)				T	BCL6	NHL								---	---	---	---
TM4SF19	116211	broad.mit.edu	37	3	196050829	196050829	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196050829G>A	uc003fwl.1	-	5	614	c.489C>T	c.(487-489)TGC>TGT	p.C163C	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.A32T|TM4SF19_uc010iad.1_Missense_Mutation_p.A162V|TM4SF19_uc011btv.1_Silent_p.C137C	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	163	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
FBXO45	200933	broad.mit.edu	37	3	196304328	196304328	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196304328G>A	uc010iai.2	+	2	454	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	108	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196612777	196612777	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196612777G>A	uc003fwz.3	+	2	974	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	SENP5_uc011bty.1_Missense_Mutation_p.R242Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196626927	196626927	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196626927T>C	uc003fwz.3	+	4	2001	c.1752T>C	c.(1750-1752)AAT>AAC	p.N584N	SENP5_uc011bty.1_Silent_p.N584N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	584	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196736663	196736663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196736663A>G	uc003fxk.3	-	11	1464	c.1351T>C	c.(1351-1353)TAC>CAC	p.Y451H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	451	Transferrin-like 2.	Iron 2 (By similarity).			cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196751234	196751234	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196751234G>A	uc003fxk.3	-	4	540	c.427C>T	c.(427-429)CCC>TCC	p.P143S	MFI2_uc003fxl.3_Missense_Mutation_p.P143S|MFI2_uc011bua.1_Missense_Mutation_p.P143S	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	143	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
DLG1	1739	broad.mit.edu	37	3	197023333	197023333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197023333A>G	uc003fxo.3	-	3	225	c.35T>C	c.(34-36)TTG>TCG	p.L12S	DLG1_uc003fxn.3_Missense_Mutation_p.L12S|DLG1_uc011bue.1_Missense_Mutation_p.L12S|DLG1_uc010ial.2_Missense_Mutation_p.L12S|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.L12S|uc003fxq.2_5'Flank	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	12	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197428660	197428660	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197428660T>C	uc003fyc.2	-	6	829	c.646A>G	c.(646-648)ACC>GCC	p.T216A	KIAA0226_uc003fyd.3_Missense_Mutation_p.T156A|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.T49A|KIAA0226_uc003fyg.2_Missense_Mutation_p.T209A	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	216	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)														---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197665523	197665523	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197665523G>A	uc003fyo.2	-	4	557	c.411C>T	c.(409-411)GGC>GGT	p.G137G	IQCG_uc003fyn.2_Silent_p.G39G|IQCG_uc003fyp.2_Silent_p.G137G|IQCG_uc003fyq.3_Silent_p.G137G	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	137											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197707271	197707271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197707271T>G	uc011buo.1	+	6	646	c.624T>G	c.(622-624)GAT>GAG	p.D208E	LMLN_uc003fyt.2_Missense_Mutation_p.D156E|LMLN_uc010iar.2_Missense_Mutation_p.D208E|LMLN_uc010ias.2_Missense_Mutation_p.D156E|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	208					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)														---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	437167	437167	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:437167G>A	uc003gag.2	-	3	1780	c.1089C>T	c.(1087-1089)TGC>TGT	p.C363C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.C395C|ZNF721_uc010ibe.2_Silent_p.C351C	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	363						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	731294	731294	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:731294A>G	uc011bva.1	+	7	721	c.246A>G	c.(244-246)GTA>GTG	p.V82V	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.V82V|PCGF3_uc010ibh.2_Silent_p.V82V|PCGF3_uc003gbg.1_Silent_p.V48V|PCGF3_uc003gbh.2_Silent_p.V48V	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	755208	755208	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:755208A>G	uc011bva.1	+						PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron|PCGF3_uc003gbg.1_Intron|PCGF3_uc003gbh.2_Intron	NM_006315	NP_006306			ring finger protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0																		---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	944311	944311	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:944311G>T	uc003gbq.2	+						TMEM175_uc010ibl.1_Intron|TMEM175_uc003gbp.1_Intron|TMEM175_uc003gbr.2_Intron|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Intron|TMEM175_uc003gbt.2_Intron|TMEM175_uc003gbv.2_Intron|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702			transmembrane protein 175							integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	949616	949616	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:949616C>T	uc003gbq.2	+	10	878	c.780C>T	c.(778-780)CGC>CGT	p.R260R	TMEM175_uc010ibl.1_Silent_p.R260R|TMEM175_uc003gbp.1_Silent_p.R178R|TMEM175_uc003gbr.2_Silent_p.R178R|TMEM175_uc003gbu.2_Silent_p.R178R|TMEM175_uc003gbs.2_Silent_p.R143R|TMEM175_uc003gbt.2_Silent_p.R143R|TMEM175_uc003gbv.2_Silent_p.R143R|TMEM175_uc010ibm.2_Silent_p.R76R	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	260						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	954521	954521	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:954521C>T	uc003gbw.2	-						DGKQ_uc010ibn.2_Intron	NM_001347	NP_001338			diacylglycerol kinase, theta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
SLC26A1	10861	broad.mit.edu	37	4	985234	985234	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:985234C>A	uc003gcb.2	-	3	636	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC26A1_uc003gbx.2_Missense_Mutation_p.Q86H|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.Q86H	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	86	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996113	996113	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996113C>T	uc003gby.2	+	8	1117	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y365Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	343					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
IDUA	3425	broad.mit.edu	37	4	996128	996128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:996128C>T	uc003gby.2	+	8	1132	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N370N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	348					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)													---	---	---	---
RNF212	285498	broad.mit.edu	37	4	1067437	1067437	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1067437G>A	uc003gcj.2	-	9	854	c.524C>T	c.(523-525)GCC>GTC	p.A175V	RNF212_uc003gch.2_Missense_Mutation_p.A17V|RNF212_uc003gci.2_Missense_Mutation_p.A175V|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	175							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)												OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1347004	1347004	+	Missense_Mutation	SNP	G	A	A	rs76217876	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1347004G>A	uc003gde.3	+	5	1184	c.737G>A	c.(736-738)CGG>CAG	p.R246Q		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	246											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1377542	1377542	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1377542T>C	uc003gde.3	+						KIAA1530_uc010ibv.2_Intron	NM_020894	NP_065945			hypothetical protein LOC57654												0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388698	1388698	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388698G>A	uc003gdf.2	+	1	3359	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388760	1388760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1388760G>A	uc003gdf.2	+	1	3421	c.461G>A	c.(460-462)CGG>CAG	p.R154Q		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	154					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389092	1389092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1389092C>T	uc003gdf.2	+	1	3753	c.793C>T	c.(793-795)CCC>TCC	p.P265S		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	265	7.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1656774	1656774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656774C>T	uc011bve.1	-	4	1011	c.813G>A	c.(811-813)CGG>CGA	p.R271R	FAM53A_uc010ibw.2_Silent_p.R271R	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	271	Nuclear localization signal (Potential).					nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1656868	1656868	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656868C>T	uc011bve.1	-	4	917	c.719G>A	c.(718-720)AGC>AAC	p.S240N	FAM53A_uc010ibw.2_Missense_Mutation_p.S240N	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	240						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1902809	1902809	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1902809T>G	uc003gdz.3	+	2	604	c.428T>G	c.(427-429)ATT>AGT	p.I143S	WHSC1_uc003geb.3_Missense_Mutation_p.I143S|WHSC1_uc003gec.3_Missense_Mutation_p.I143S|WHSC1_uc003ged.3_Missense_Mutation_p.I143S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.I143S|WHSC1_uc003gdy.1_Missense_Mutation_p.I143S|WHSC1_uc010icd.1_Missense_Mutation_p.I143S|WHSC1_uc003gea.1_Missense_Mutation_p.I143S|WHSC1_uc010ice.1_Missense_Mutation_p.I143S|WHSC1_uc003geg.1_Missense_Mutation_p.I143S|WHSC1_uc003geh.1_Missense_Mutation_p.I143S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	143					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273447	2273447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2273447A>G	uc003gex.1	-	11	2702	c.2383T>C	c.(2383-2385)TCA>CCA	p.S795P	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S725P|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S765P|ZFYVE28_uc003gew.1_Missense_Mutation_p.S681P	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	795					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3																		---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2834759	2834759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2834759T>C	uc003gfi.3	+	12	1651	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SH3BP2_uc011bvp.1_Missense_Mutation_p.Y539H|SH3BP2_uc003gfj.3_Missense_Mutation_p.Y568H|SH3BP2_uc003gfk.3_Missense_Mutation_p.Y511H|SH3BP2_uc003gfl.3_Missense_Mutation_p.Y444H|SH3BP2_uc003gfm.3_Missense_Mutation_p.Y486H	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	511	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---
ADD1	118	broad.mit.edu	37	4	2886334	2886334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2886334G>A	uc003gfr.2	+	4	639	c.451G>A	c.(451-453)GCG>ACG	p.A151T	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.A151T|ADD1_uc003gfo.2_Missense_Mutation_p.A151T|ADD1_uc003gfp.2_Missense_Mutation_p.A151T|ADD1_uc003gfq.2_Missense_Mutation_p.A151T|ADD1_uc003gfs.2_Missense_Mutation_p.A151T|ADD1_uc003gft.3_Missense_Mutation_p.A151T|ADD1_uc003gfu.2_5'Flank	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	151					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3037113	3037113	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3037113T>C	uc003ggn.1	+	13	1725	c.1270T>C	c.(1270-1272)TTA>CTA	p.L424L	GRK4_uc003ggo.1_Silent_p.L424L|GRK4_uc003ggp.1_Silent_p.L392L|GRK4_uc003ggq.1_Silent_p.L392L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	424	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
HTT	3064	broad.mit.edu	37	4	3148604	3148604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3148604C>T	uc011bvq.1	+	26	3375	c.3230C>T	c.(3229-3231)TCG>TTG	p.S1077L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1075					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318001	3318001	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318001C>T	uc003ggw.2	+	2	1008	c.104C>T	c.(103-105)ACG>ATG	p.T35M	RGS12_uc003ggu.2_Missense_Mutation_p.T35M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T35M|RGS12_uc003ggx.1_Missense_Mutation_p.T35M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	35	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318443	3318443	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318443A>G	uc003ggw.2	+	2	1450	c.546A>G	c.(544-546)GGA>GGG	p.G182G	RGS12_uc003ggu.2_Silent_p.G182G|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.G182G|RGS12_uc003ggx.1_Silent_p.G182G	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	182						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
LRPAP1	4043	broad.mit.edu	37	4	3526647	3526647	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3526647T>C	uc003ghi.2	-	2	421	c.336A>G	c.(334-336)ATA>ATG	p.I112M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	112					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)														---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3769612	3769612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3769612T>C	uc003ghm.2	+	1	1317	c.1279T>C	c.(1279-1281)TAC>CAC	p.Y427H	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	427	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624510	5624510	+	Missense_Mutation	SNP	C	T	T	rs139717271		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5624510C>T	uc003gij.2	-	14	2309	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	EVC2_uc011bwb.1_Missense_Mutation_p.R192Q|EVC2_uc003gik.2_Missense_Mutation_p.R672Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	752	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
EVC	2121	broad.mit.edu	37	4	5754593	5754593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5754593C>T	uc003gil.1	+	9	1313	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	377					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6064122	6064122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6064122G>A	uc003giu.3	-	10	1753	c.1477C>T	c.(1477-1479)CGG>TGG	p.R493W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R493W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R308W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R493W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R328W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R493W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R493W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	493	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6083425	6083425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6083425G>A	uc003giu.3	-	6	1288	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R338W|JAKMIP1_uc010idc.1_Missense_Mutation_p.R173W|JAKMIP1_uc010idd.1_Missense_Mutation_p.R338W|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R173W|JAKMIP1_uc003giv.3_Missense_Mutation_p.R338W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R338W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	338	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303480	6303480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303480G>A	uc003giy.2	+	8	2124	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H	WFS1_uc003gix.2_Missense_Mutation_p.R653H|WFS1_uc003giz.2_Missense_Mutation_p.R471H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	653			R -> C (in a patient with type 2 diabetes).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303751	6303751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6303751C>T	uc003giy.2	+	8	2395	c.2229C>T	c.(2227-2229)AGC>AGT	p.S743S	WFS1_uc003gix.2_Silent_p.S743S|WFS1_uc003giz.2_Silent_p.S561S	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	743					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)														---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6380273	6380273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6380273G>A	uc003gjc.2	-	3	565	c.195C>T	c.(193-195)GGC>GGT	p.G65G	PPP2R2C_uc003gjb.2_Silent_p.G48G|PPP2R2C_uc011bwd.1_Silent_p.G58G|PPP2R2C_uc011bwe.1_Silent_p.G58G|PPP2R2C_uc003gja.2_Silent_p.G65G|PPP2R2C_uc003gjd.1_Silent_p.G153G	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	65					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6826332	6826332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6826332G>A	uc003gjr.3	+	3	615	c.152G>A	c.(151-153)GGC>GAC	p.G51D	KIAA0232_uc003gjq.3_Missense_Mutation_p.G51D	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	51							ATP binding			ovary(2)	2																		---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6863906	6863906	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6863906T>C	uc003gjr.3	+	7	2260	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G	KIAA0232_uc003gjq.3_Silent_p.G599G	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	599							ATP binding			ovary(2)	2																		---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	7011616	7011616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7011616C>T	uc011bwg.1	+	10	1538	c.1459C>T	c.(1459-1461)CAT>TAT	p.H487Y	TBC1D14_uc003gjs.3_Missense_Mutation_p.H487Y|TBC1D14_uc010idh.2_Missense_Mutation_p.H207Y|TBC1D14_uc011bwh.1_Missense_Mutation_p.H134Y|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056629	7056629	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7056629A>G	uc003gjw.3	+	2	1262	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A	TADA2B_uc010idi.2_Missense_Mutation_p.T296A	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0																		---	---	---	---
GRPEL1	80273	broad.mit.edu	37	4	7064145	7064145	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7064145T>C	uc003gjy.1	-	3	315	c.274A>G	c.(274-276)AGC>GGC	p.S92G	GRPEL1_uc003gjz.1_Missense_Mutation_p.S92G	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	92					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0																		---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7435600	7435600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7435600C>A	uc011bwj.1	-	1	1101	c.1007G>T	c.(1006-1008)TGC>TTC	p.C336F	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	336	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome					0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7788020	7788020	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7788020A>G	uc003gkg.1	-	12	1704	c.1431T>C	c.(1429-1431)GTT>GTC	p.V477V	AFAP1_uc011bwk.1_Silent_p.V477V	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	477						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7795484	7795484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7795484G>A	uc003gkg.1	-	11	1609	c.1336C>T	c.(1336-1338)CCG>TCG	p.P446S	AFAP1_uc011bwk.1_Missense_Mutation_p.P446S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	446						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7840356	7840356	+	Silent	SNP	C	T	T	rs144556165		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7840356C>T	uc003gkg.1	-	6	894	c.621G>A	c.(619-621)CCG>CCA	p.P207P	AFAP1_uc011bwk.1_Silent_p.P207P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	207	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229166	8229166	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229166A>T	uc003gkv.3	+	12	1846	c.1745A>T	c.(1744-1746)TAC>TTC	p.Y582F	SH3TC1_uc003gkw.3_Missense_Mutation_p.Y506F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	582	TPR 1.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229515	8229515	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229515G>A	uc003gkv.3	+	12	2195	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	SH3TC1_uc003gkw.3_Silent_p.S622S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	698	TPR 3.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8233870	8233870	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8233870C>A	uc003gkv.3	+	13	3219	c.3118C>A	c.(3118-3120)CTG>ATG	p.L1040M	SH3TC1_uc003gkw.3_Missense_Mutation_p.L964M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1040	TPR 7.						binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8271808	8271808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8271808G>A	uc003gla.2	+	1	317	c.113G>A	c.(112-114)CGC>CAC	p.R38H	HTRA3_uc003gkz.2_Missense_Mutation_p.R38H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	38	IGFBP N-terminal.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8307843	8307843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8307843G>A	uc003gla.2	+	9	1546	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	448					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447359	10447359	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10447359A>G	uc003gmn.2	-	3	1081	c.594T>C	c.(592-594)GGT>GGC	p.G198G		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	198	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13590398	13590398	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13590398T>C	uc003gmz.1	-	15	8345	c.8228A>G	c.(8227-8229)AAA>AGA	p.K2743R		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2743							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13603610	13603610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13603610G>A	uc003gmz.1	-	10	5031	c.4914C>T	c.(4912-4914)ATC>ATT	p.I1638I	BOD1L_uc010idr.1_Silent_p.I975I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1638							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15018811	15018811	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15018811G>A	uc003gni.1	+	4	811	c.724_splice	c.e4-1	p.D242_splice	CPEB2_uc003gnj.1_Splice_Site_p.D212_splice|CPEB2_uc003gnk.1_Splice_Site_p.D242_splice|CPEB2_uc003gnl.1_Splice_Site_p.D215_splice|CPEB2_uc003gnm.1_Splice_Site_p.D212_splice|CPEB2_uc003gnn.1_Splice_Site_p.D215_splice	NM_182485	NP_872291			cytoplasmic polyadenylation element binding						regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1																		---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15614035	15614035	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15614035A>C	uc003goc.1	-	10	1956	c.1853T>G	c.(1852-1854)GTT>GGT	p.V618G	FBXL5_uc010idw.1_Missense_Mutation_p.V531G|FBXL5_uc003gob.1_Missense_Mutation_p.V492G|FBXL5_uc010idx.1_Missense_Mutation_p.V617G|FBXL5_uc003god.1_Missense_Mutation_p.V601G|FBXL5_uc010idy.1_Missense_Mutation_p.V618G	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	618	LRR 6.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0																		---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15964674C>A	uc003gon.2	-	1	186	c.79G>T	c.(79-81)GGA>TGA	p.G27*		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	27						extracellular space	growth factor binding				0																		---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15994012	15994012	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15994012A>G	uc003goo.2	-	16	1982	c.1770T>C	c.(1768-1770)CAT>CAC	p.H590H	PROM1_uc003gor.2_Silent_p.H590H|PROM1_uc003gos.2_Silent_p.H581H|PROM1_uc003got.2_Silent_p.H590H|PROM1_uc003gou.2_Silent_p.H581H|PROM1_uc003gop.2_Silent_p.H581H|PROM1_uc003goq.3_Silent_p.H581H	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	590	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7																		---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16188435	16188435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16188435T>C	uc010ied.1	-	6	896	c.815A>G	c.(814-816)AAG>AGG	p.K272R	TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.K161R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	272						integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504260	16504260	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504260A>T	uc003goz.2	-	8					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_3'UTR|LDB2_uc011bxh.1_3'UTR|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_3'UTR|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281			LIM domain binding 2 isoform a								LIM domain binding|transcription cofactor activity				0																		---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	T	T	rs138614817		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504355C>T	uc003goz.2	-	8	1349	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.A343T|LDB2_uc011bxh.1_Missense_Mutation_p.A317T|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.A220T|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	345							LIM domain binding|transcription cofactor activity				0																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805232	17805232	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805232C>T	uc003gpn.2	-	3	1594	c.533G>A	c.(532-534)TGC>TAC	p.C178Y	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	178						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805389	17805389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17805389T>C	uc003gpn.2	-	3	1437	c.376A>G	c.(376-378)AAG>GAG	p.K126E	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	126						CUL4 RING ubiquitin ligase complex				ovary(1)	1																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20469366	20469366	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20469366T>C	uc003gpr.1	+						SLIT2_uc003gps.1_Intron	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20521008	20521008	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20521008C>T	uc003gpr.1	+	12	1266	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	SLIT2_uc003gps.1_Silent_p.V354V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	354	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525792G>A	uc003gpr.1	+	14	1634	c.1430G>A	c.(1429-1431)CGT>CAT	p.R477H	SLIT2_uc003gps.1_Missense_Mutation_p.R477H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20597443C>T	uc003gpr.1	+	31	3510	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711339	20711339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20711339G>A	uc010iek.2	+	5	700	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.Q151Q|PACRGL_uc003gpz.2_Silent_p.Q103Q|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.Q103Q|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	103							binding				0																		---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20734355	20734355	+	Nonsense_Mutation	SNP	A	T	T	rs141959590	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20734355A>T	uc003gqe.2	-	6	624	c.540T>A	c.(538-540)TAT>TAA	p.Y180*	KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y176*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y135*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y172*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y135*|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y177*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y160*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	197						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884223	20884223	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884223A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Intron|KCNIP4_uc003gqd.3_Intron	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20884319	20884319	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20884319A>G	uc003gqe.2	-						KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc010iel.2_Silent_p.A5A|KCNIP4_uc003gqd.3_5'UTR	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22463404	22463404	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22463404A>G	uc003gqm.1	-	3	622	c.357T>C	c.(355-357)AGT>AGC	p.S119S	GPR125_uc003gqo.2_Silent_p.S119S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	119	Extracellular (Potential).|LRR 2.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22737695	22737695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22737695T>C	uc003gqp.3	+	2	241	c.150T>C	c.(148-150)GAT>GAC	p.D50D	GBA3_uc010iep.2_Silent_p.D50D|GBA3_uc011bxo.1_Silent_p.D51D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	50					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---
MIR573	693158	broad.mit.edu	37	4	24521905	24521905	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24521905A>G	hsa-mir-573|MI0003580	-			c.9A>G																				0																		---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24550530C>T	uc003gqx.2	-	6	1364	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24556472	24556472	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24556472A>G	uc003gqx.2	-	5	1124	c.956T>C	c.(955-957)GTT>GCT	p.V319A		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	319					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25146678	25146678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25146678T>C	uc003grg.2	-	7	1095	c.882A>G	c.(880-882)ATA>ATG	p.I294M	SEPSECS_uc003gri.2_Missense_Mutation_p.I293M|SEPSECS_uc003grh.2_Missense_Mutation_p.I215M	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	294					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27010471	27010471	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27010471G>A	uc003gsh.3	+	11	1837	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	STIM2_uc003gsg.3_Missense_Mutation_p.A533T|STIM2_uc010iex.2_Missense_Mutation_p.A533T|STIM2_uc010iey.2_Missense_Mutation_p.A157T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	446	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725086	30725086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30725086A>G	uc003gsk.1	+	1	3050	c.2042A>G	c.(2041-2043)AAC>AGC	p.N681S	PCDH7_uc011bxw.1_Missense_Mutation_p.N634S|PCDH7_uc011bxx.1_Missense_Mutation_p.N681S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	681	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36109300	36109300	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36109300T>C	uc003gsq.1	-	27	4510	c.4172A>G	c.(4171-4173)TAC>TGC	p.Y1391C		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1391	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36149198	36149198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36149198T>A	uc003gsq.1	-	18	3509	c.3171A>T	c.(3169-3171)AGA>AGT	p.R1057S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1057	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36161111	36161111	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36161111A>G	uc003gsq.1	-	14	2797	c.2459T>C	c.(2458-2460)GTA>GCA	p.V820A		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	820					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38138948	38138948	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38138948G>T	uc003gtb.2	+	20	3842	c.3499G>T	c.(3499-3501)GGC>TGC	p.G1167C	TBC1D1_uc011byd.1_Missense_Mutation_p.G1158C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G954C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G179C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1167						nucleus	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38776589	38776589	+	Missense_Mutation	SNP	C	T	T	rs147715812		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38776589C>T	uc003gti.2	-	2	1002	c.623G>A	c.(622-624)CGT>CAT	p.R208H	TLR10_uc003gtj.2_Missense_Mutation_p.R208H|TLR10_uc003gtk.2_Missense_Mutation_p.R208H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	208	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2																		---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798650	38798650	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38798650G>A	uc003gtl.2	-	4	2077	c.1803C>T	c.(1801-1803)TGC>TGT	p.C601C		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	601	Helical; (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39064525	39064525	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39064525G>A	uc003gts.2	+	1	466	c.391G>A	c.(391-393)GCA>ACA	p.A131T	KLHL5_uc003gtp.2_Missense_Mutation_p.A85T|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Missense_Mutation_p.A131T|KLHL5_uc003gtt.2_Missense_Mutation_p.A131T	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	131						cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39083781	39083781	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39083781T>C	uc003gts.2	+	4	1113	c.1038_splice	c.e4+2	p.M346_splice	KLHL5_uc003gtp.2_Splice_Site_p.M300_splice|KLHL5_uc003gtq.2_Splice_Site_p.M159_splice|KLHL5_uc003gtr.1_Splice_Site_p.M346_splice|KLHL5_uc003gtt.2_Splice_Site_p.M285_splice	NM_015990	NP_057074			kelch-like 5 isoform 1							cytoplasm|cytoskeleton	actin binding			ovary(1)	1																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39297264	39297264	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39297264A>G	uc003gty.1	-	22	3061	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A	RFC1_uc003gtx.1_Missense_Mutation_p.V975A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	976					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39843614	39843614	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39843614A>C	uc003guv.3	-	31	4151	c.3611T>G	c.(3610-3612)ATT>AGT	p.I1204S	PDS5A_uc010ifo.2_Missense_Mutation_p.I1164S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1204					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39863914	39863914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39863914T>C	uc003guv.3	-	26	3551	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y964C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1004					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123127	40123127	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123127A>T	uc003guy.3	+	9	3734	c.3396A>T	c.(3394-3396)TTA>TTT	p.L1132F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1052F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1052F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1132						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---
NSUN7	79730	broad.mit.edu	37	4	40776855	40776855	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40776855A>T	uc003gvj.3	+	6	1208	c.713A>T	c.(712-714)GAT>GTT	p.D238V	NSUN7_uc003gvh.2_Missense_Mutation_p.D238V|NSUN7_uc003gvi.3_Missense_Mutation_p.D238V	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0																		---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016219	41016219	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41016219T>C	uc003gvl.2	-	6	846	c.216A>G	c.(214-216)CTA>CTG	p.L72L	APBB2_uc003gvm.2_Silent_p.L72L|APBB2_uc003gvn.2_Silent_p.L72L|APBB2_uc011byt.1_Silent_p.L55L	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	72					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951356	41951356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951356A>G	uc003gwi.2	+	6	933	c.568A>G	c.(568-570)AGA>GGA	p.R190G	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	190						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
TMEM33	55161	broad.mit.edu	37	4	41951372	41951372	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41951372G>A	uc003gwi.2	+	6	949	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	195						integral to membrane|melanosome	protein binding			ovary(1)	1																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42065102	42065102	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42065102A>T	uc003gwl.2	+	11	1142	c.996A>T	c.(994-996)GGA>GGT	p.G332G	SLC30A9_uc011byx.1_Silent_p.G92G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	332	Helical; (Potential).				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42069122	42069122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42069122A>G	uc003gwl.2	+	14	1311	c.1165A>G	c.(1165-1167)AGT>GGT	p.S389G	SLC30A9_uc011byx.1_Missense_Mutation_p.S149G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	389					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42416673	42416673	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42416673C>T	uc003gwr.2	-	36	3600	c.3368G>A	c.(3367-3369)CGC>CAC	p.R1123H	ATP8A1_uc003gwq.2_Missense_Mutation_p.R349H|ATP8A1_uc003gws.2_Missense_Mutation_p.R1108H	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1123	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42467001	42467001	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42467001A>T	uc003gwr.2	-	26	2649	c.2417T>A	c.(2416-2418)GTC>GAC	p.V806D	ATP8A1_uc003gwq.2_Missense_Mutation_p.V32D|ATP8A1_uc003gws.2_Missense_Mutation_p.V791D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	806	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42588453	42588453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42588453A>G	uc003gwr.2	-	9	867	c.635T>C	c.(634-636)TTG>TCG	p.L212S	ATP8A1_uc003gws.2_Missense_Mutation_p.L212S|ATP8A1_uc011byz.1_Missense_Mutation_p.L212S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	212	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42895339G>A	uc003gwt.2	+	1	56	c.56G>A	c.(55-57)CGG>CAG	p.R19Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42964999	42964999	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42964999G>A	uc003gwt.2	+	2	475	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	159	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450344	44450344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44450344G>A	uc003gwu.2	-	1	481	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	66	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3															HNSCC(17;0.042)			---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44692771	44692771	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44692771C>G	uc003gww.3	+	12	1580	c.1373C>G	c.(1372-1374)GCA>GGA	p.A458G		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	458					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252449	46252449	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46252449A>G	uc003gxc.3	-	9	1905	c.1232T>C	c.(1231-1233)TTC>TCC	p.F411S	GABRA2_uc010igc.2_Missense_Mutation_p.F411S|GABRA2_uc011bzc.1_Missense_Mutation_p.F416S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	411	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305564	46305564	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46305564T>G	uc003gxc.3	-	7	1442	c.769A>C	c.(769-771)ACC>CCC	p.T257P	GABRA2_uc010igc.2_Missense_Mutation_p.T257P|GABRA2_uc011bzc.1_Missense_Mutation_p.T202P|GABRA2_uc003gxe.2_Missense_Mutation_p.T257P	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	257	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46334631	46334631	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46334631C>T	uc003gxc.3	-	3	928	c.255_splice	c.e3+1	p.M85_splice	GABRA2_uc010igc.2_Splice_Site_p.M85_splice|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Splice_Site_p.M85_splice	NM_001114175	NP_001107647			gamma-aminobutyric acid A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930536	46930536	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46930536A>C	uc003gxg.2	-	9	1510	c.1371T>G	c.(1369-1371)ACT>ACG	p.T457T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	457	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46995427C>A	uc003gxg.2	-	1	154	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	5					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47405734	47405734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47405734A>G	uc003gxh.2	+						GABRB1_uc011bze.1_Intron	NM_000812	NP_000803			gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47571042	47571042	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47571042G>T	uc003gxk.1	+	16	3206	c.3042G>T	c.(3040-3042)AAG>AAT	p.K1014N	ATP10D_uc003gxl.1_Missense_Mutation_p.K262N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1014	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47663845	47663845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47663845A>G	uc003gxm.2	-	12	1711	c.1618T>C	c.(1618-1620)TGT>CGT	p.C540R	CORIN_uc011bzf.1_Missense_Mutation_p.C401R|CORIN_uc011bzg.1_Missense_Mutation_p.C473R|CORIN_uc011bzh.1_Missense_Mutation_p.C503R|CORIN_uc011bzi.1_Missense_Mutation_p.C503R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	540	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47695094	47695094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47695094C>T	uc003gxm.2	-	6	899	c.806G>A	c.(805-807)TGT>TAT	p.C269Y	CORIN_uc011bzf.1_Missense_Mutation_p.C130Y|CORIN_uc011bzg.1_Missense_Mutation_p.C202Y|CORIN_uc011bzh.1_Missense_Mutation_p.C269Y|CORIN_uc011bzi.1_Missense_Mutation_p.C269Y|CORIN_uc003gxn.3_Missense_Mutation_p.C269Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	269	Extracellular (Potential).|LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939081	47939081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939081A>G	uc003gxt.3	-	11	1696	c.1430T>C	c.(1429-1431)GTA>GCA	p.V477A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V546A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	477	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939244	47939244	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939244A>G	uc003gxt.3	-	11	1533	c.1267T>C	c.(1267-1269)TTT>CTT	p.F423L	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F492L	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	423	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939482	47939482	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47939482G>A	uc003gxt.3	-	11	1295	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.G412G	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	343	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
TEC	7006	broad.mit.edu	37	4	48147163	48147163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48147163C>T	uc003gxz.2	-	14	1494	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	468	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48542963	48542963	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48542963T>C	uc003gyh.1	-	46	6307	c.5702A>G	c.(5701-5703)GAT>GGT	p.D1901G	FRYL_uc003gyg.1_Missense_Mutation_p.D597G|FRYL_uc003gyi.1_Missense_Mutation_p.D789G|FRYL_uc003gyj.1_Missense_Mutation_p.D196G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1901					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48566115	48566115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48566115T>C	uc003gyh.1	-	31	4051	c.3446A>G	c.(3445-3447)CAC>CGC	p.H1149R	FRYL_uc003gyk.2_Missense_Mutation_p.H1149R|FRYL_uc003gyi.1_Missense_Mutation_p.H38R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48584736	48584736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48584736C>T	uc003gyh.1	-	20	2369	c.1764G>A	c.(1762-1764)ATG>ATA	p.M588I	FRYL_uc003gyk.2_Missense_Mutation_p.M588I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
OCIAD1	54940	broad.mit.edu	37	4	48859353	48859353	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48859353C>A	uc003gyo.2	+	8	928	c.671C>A	c.(670-672)CCT>CAT	p.P224H	OCIAD1_uc003gyr.2_Missense_Mutation_p.P224H|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.P229H	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	224						endosome	protein binding				0																		---	---	---	---
DCUN1D4	23142	broad.mit.edu	37	4	52758003	52758003	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52758003A>G	uc003gze.2	+	7	625	c.492A>G	c.(490-492)GGA>GGG	p.G164G	DCUN1D4_uc003gzf.2_Silent_p.G164G|DCUN1D4_uc011bzn.1_Silent_p.G104G|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.G208G	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	164	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)															---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861789	52861789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52861789C>A	uc003gzi.2	-	4	1412	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	467						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52945916	52945916	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52945916A>C	uc003gzl.2	+	9	1464	c.1186A>C	c.(1186-1188)ATC>CTC	p.I396L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.I364L|SPATA18_uc003gzk.1_Missense_Mutation_p.I396L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	396					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
SCFD2	152579	broad.mit.edu	37	4	54231548	54231548	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54231548A>G	uc003gzu.2	-	1	695	c.561T>C	c.(559-561)CTT>CTC	p.L187L	SCFD2_uc010igm.2_Silent_p.L187L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	187					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54440034	54440034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54440034G>A	uc003hag.3	-	2	392	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	46	RING-type.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---
KIT	3815	broad.mit.edu	37	4	55524239	55524239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55524239G>A	uc010igr.2	+	1	145	c.58G>A	c.(58-60)GTC>ATC	p.V20I	KIT_uc010igs.2_Missense_Mutation_p.V20I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	20					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55565802	55565802	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55565802A>T	uc010igr.2	+	4	713	c.626A>T	c.(625-627)AAA>ATA	p.K209I	KIT_uc010igs.2_Missense_Mutation_p.K209I	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	209	Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KIT	3815	broad.mit.edu	37	4	55592157	55592157	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55592157A>G	uc010igr.2	+	9	1568	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	KIT_uc010igs.2_Missense_Mutation_p.Y494C|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	494	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.Y494Y(1)|p.E490_F504>DHIVVSLTF(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---
KDR	3791	broad.mit.edu	37	4	55964961	55964961	+	Missense_Mutation	SNP	T	A	A	rs151060903		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55964961T>A	uc003has.2	-	16	2578	c.2276A>T	c.(2275-2277)GAA>GTA	p.E759V	KDR_uc003hat.1_Missense_Mutation_p.E759V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	759	Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972863	55972863	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55972863T>C	uc003has.2	-	11	1829	c.1527A>G	c.(1525-1527)GGA>GGG	p.G509G	KDR_uc003hat.1_Silent_p.G509G|KDR_uc011bzx.1_Silent_p.G509G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	509	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56730485	56730485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56730485G>A	uc003hbe.1	+	4	506	c.348G>A	c.(346-348)TGG>TGA	p.W116*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.W116*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.W116*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	116					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57269249	57269249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57269249T>C	uc003hbr.2	-	5	820	c.618A>G	c.(616-618)TTA>TTG	p.L206L		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	206	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57384867	57384867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57384867T>A	uc003hby.1	+	3	488	c.40T>A	c.(40-42)TCC>ACC	p.S14T		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	78							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
ARL9	132946	broad.mit.edu	37	4	57389893	57389893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57389893A>T	uc003hby.1	+	4	671	c.223A>T	c.(223-225)ATC>TTC	p.I75F		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	139							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57897134	57897134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57897134C>T	uc003hcl.1	+	25	3548	c.3505C>T	c.(3505-3507)CCG>TCG	p.P1169S	POLR2B_uc011cae.1_Missense_Mutation_p.P1162S|POLR2B_uc011caf.1_Missense_Mutation_p.P1094S|POLR2B_uc003hcm.1_Missense_Mutation_p.P662S	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62813808	62813808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62813808T>C	uc010ihh.2	+						LPHN3_uc003hcq.3_Intron|LPHN3_uc003hct.2_Intron	NM_015236	NP_056051			latrophilin 3 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66535289	66535289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66535289T>G	uc003hcy.2	-	1	365	c.172A>C	c.(172-174)AGC>CGC	p.S58R	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.S58R|EPHA5_uc011cah.1_Missense_Mutation_p.S58R|EPHA5_uc011cai.1_Missense_Mutation_p.S58R|EPHA5_uc003hda.2_Missense_Mutation_p.S58R|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	58	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489832	68489832	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489832T>C	uc003hdg.3	-							NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68489854	68489854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68489854T>C	uc003hdg.3	-	30	2882	c.2830A>G	c.(2830-2832)ACT>GCT	p.T944A		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	944					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68490772	68490772	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68490772C>A	uc003hdg.3	-	29	2704	c.2652G>T	c.(2650-2652)AAG>AAT	p.K884N		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	884					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610386	68610386	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610386G>T	uc003hdn.2	-	2	2393	c.642C>A	c.(640-642)TTC>TTA	p.F214L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	214	Helical; Name=5; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68610404	68610404	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68610404T>G	uc003hdn.2	-	2	2375	c.624A>C	c.(622-624)CAA>CAC	p.Q208H	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	208	Extracellular (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
GNRHR	2798	broad.mit.edu	37	4	68619626	68619626	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68619626A>T	uc003hdn.2	-	1	2179	c.428T>A	c.(427-429)ATC>AAC	p.I143N	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.I143N	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	143	Cytoplasmic (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)													---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68928328	68928328	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68928328A>G	uc003hdt.1	-						LOC550112_uc003hdl.3_RNA|uc011cak.1_RNA|SYT14L_uc010ihn.2_RNA	NM_207407	NP_997290			transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202890	69202890	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69202890T>C	uc003hdx.2	-	4	1091	c.738A>G	c.(736-738)GAA>GAG	p.E246E	YTHDC1_uc003hdy.2_Silent_p.E246E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	246	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69203419	69203419	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69203419A>G	uc003hdx.2	-	3	683	c.330T>C	c.(328-330)GAT>GAC	p.D110D	YTHDC1_uc003hdy.2_Silent_p.D110D	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	110										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811057	69811057	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69811057T>G	uc003hef.2	-	2	862	c.831A>C	c.(829-831)GGA>GGC	p.G277G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	277	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066414	70066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70066414A>G	uc003heh.2	-	6	1343	c.1334T>C	c.(1333-1335)TTA>TCA	p.L445S	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	445					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3																		---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70592890	70592890	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70592890G>T	uc003hen.2	-	8	1105	c.807C>A	c.(805-807)TTC>TTA	p.F269L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	269					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0																		---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71200957	71200957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71200957A>G	uc003hff.2	+	1	287	c.201A>G	c.(199-201)AAA>AAG	p.K67K		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	67						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71201519	71201519	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71201519G>A	uc003hff.2	+	1	849	c.763G>A	c.(763-765)GCT>ACT	p.A255T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	255						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508727	71508727	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71508727A>G	uc011caw.1	+	9	1865	c.1584A>G	c.(1582-1584)CCA>CCG	p.P528P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555419	71555419	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71555419A>G	uc003hfo.2	+	1	1224	c.1025A>G	c.(1024-1026)AAA>AGA	p.K342R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	342					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)															---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71634299	71634299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71634299C>T	uc003hfq.2	+	5	1212	c.617C>T	c.(616-618)GCC>GTC	p.A206V	RUFY3_uc003hfp.3_Missense_Mutation_p.A266V|RUFY3_uc011cax.1_Missense_Mutation_p.A224V|RUFY3_uc003hfr.2_Missense_Mutation_p.A206V|RUFY3_uc011cay.1_Missense_Mutation_p.A142V	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	206	RUN.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72363287	72363287	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72363287G>A	uc003hfy.2	+	16	2161	c.2044G>A	c.(2044-2046)GTC>ATC	p.V682I	SLC4A4_uc010iic.2_Missense_Mutation_p.V682I|SLC4A4_uc010iib.2_Missense_Mutation_p.V682I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V682I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V638I|SLC4A4_uc010iid.2_Intron	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	682	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72429508	72429508	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72429508A>G	uc003hfy.2	+	24	3217	c.3100_splice	c.e24-2	p.S1034_splice	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Splice_Site_p.S950_splice|SLC4A4_uc003hfz.2_Splice_Site_p.S1034_splice|SLC4A4_uc003hgc.3_Splice_Site_p.S990_splice|SLC4A4_uc010iid.2_Splice_Site_p.S238_splice	NM_001098484	NP_001091954			solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	72994607	72994607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72994607C>A	uc003hgg.2	+	2	703	c.605C>A	c.(604-606)CCT>CAT	p.P202H	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.P103H|NPFFR2_uc003hgh.2_Missense_Mutation_p.P100H	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	202	Helical; Name=2; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73943171	73943171	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73943171T>C	uc003hgp.2	-	32	7605	c.7488A>G	c.(7486-7488)CAA>CAG	p.Q2496Q	ANKRD17_uc003hgo.2_Silent_p.Q2383Q|ANKRD17_uc003hgq.2_Silent_p.Q2245Q|ANKRD17_uc003hgr.2_Silent_p.Q2495Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2496					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73956669	73956669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73956669T>A	uc003hgp.2	-	29	6793	c.6676A>T	c.(6676-6678)ACA>TCA	p.T2226S	ANKRD17_uc003hgo.2_Missense_Mutation_p.T2113S|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1975S|ANKRD17_uc003hgr.2_Missense_Mutation_p.T2225S	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2226					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957601	73957601	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957601C>T	uc003hgp.2	-	29	5861	c.5744G>A	c.(5743-5745)GGT>GAT	p.G1915D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G1802D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G1664D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G1914D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1915					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957799	73957799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73957799G>A	uc003hgp.2	-	29	5663	c.5546C>T	c.(5545-5547)GCC>GTC	p.A1849V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1736V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1598V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1848V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1849					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005463	74005463	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005463G>A	uc003hgp.2	-	15	2987	c.2870C>T	c.(2869-2871)GCG>GTG	p.A957V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A844V|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A957V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A522V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	957	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005740	74005740	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74005740T>A	uc003hgp.2	-	15	2710	c.2593A>T	c.(2593-2595)ATT>TTT	p.I865F	ANKRD17_uc003hgo.2_Missense_Mutation_p.I752F|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.I865F|ANKRD17_uc011cbd.1_Missense_Mutation_p.I430F	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	865	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74007530	74007530	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74007530T>C	uc003hgp.2	-	14	2377	c.2260A>G	c.(2260-2262)ATG>GTG	p.M754V	ANKRD17_uc003hgo.2_Missense_Mutation_p.M641V|ANKRD17_uc003hgq.2_Missense_Mutation_p.M754V|ANKRD17_uc003hgr.2_Missense_Mutation_p.M754V|ANKRD17_uc011cbd.1_Missense_Mutation_p.M319V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	754					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
ALB	213	broad.mit.edu	37	4	74275073	74275073	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74275073T>A	uc003hgs.3	+	5	557	c.484T>A	c.(484-486)TAC>AAC	p.Y162N	ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.Y162N|ALB_uc010iii.2_Missense_Mutation_p.Y47N|ALB_uc003hgu.3_Missense_Mutation_p.Y12N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.Y52N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	162	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)													---	---	---	---
AFM	173	broad.mit.edu	37	4	74357801	74357801	+	Silent	SNP	G	A	A	rs141061547		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74357801G>A	uc003hhb.2	+	8	1087	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	352	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76582913	76582913	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76582913T>A	uc003hir.2	-	4	344	c.179A>T	c.(178-180)GAT>GTT	p.D60V	G3BP2_uc003his.2_Missense_Mutation_p.D60V|G3BP2_uc003hit.2_Missense_Mutation_p.D60V	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	60	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76731585	76731585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76731585G>A	uc003hiu.2	+	21	2651	c.2476G>A	c.(2476-2478)GCA>ACA	p.A826T	USO1_uc003hiv.2_Missense_Mutation_p.A668T|USO1_uc003hiw.2_Missense_Mutation_p.A661T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	826	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76734383	76734383	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76734383T>A	uc003hiu.2	+	23	2999	c.2824T>A	c.(2824-2826)TCT>ACT	p.S942T	USO1_uc003hiv.2_Missense_Mutation_p.S784T|USO1_uc003hiw.2_Missense_Mutation_p.S777T	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	942	Asp/Glu-rich (acidic).			S->D: Decreased association with Golgi membranes.|S->A: Loss of phosphorylation. Promotes association with Golgi membranes.	intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NAAA	27163	broad.mit.edu	37	4	76842211	76842211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76842211A>G	uc003hjb.2	-	6	796	c.732T>C	c.(730-732)GCT>GCC	p.A244A	NAAA_uc003hja.2_Silent_p.A244A|NAAA_uc003hjc.3_Silent_p.A244A|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.A143A	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	244					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1																		---	---	---	---
ART3	419	broad.mit.edu	37	4	77003397	77003397	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77003397A>G	uc003hjo.2	+	3	609	c.490A>G	c.(490-492)ACA>GCA	p.T164A	ART3_uc003hji.2_Missense_Mutation_p.T164A|ART3_uc003hjj.2_Missense_Mutation_p.T164A|ART3_uc003hjk.2_Missense_Mutation_p.T164A|ART3_uc010ija.1_Missense_Mutation_p.T164A|ART3_uc003hjn.2_Missense_Mutation_p.T164A|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.T134A|ART3_uc010ijc.2_Missense_Mutation_p.T134A|ART3_uc010ijd.2_Missense_Mutation_p.T134A	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	164					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NUP54	53371	broad.mit.edu	37	4	77057529	77057529	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77057529G>A	uc003hjs.2	-	4	460	c.332C>T	c.(331-333)CCT>CTT	p.P111L	NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Missense_Mutation_p.P63L|NUP54_uc003hjt.2_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	111	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2																		---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677703	77677703	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77677703C>T	uc011cbx.1	+	8	5764	c.4811C>T	c.(4810-4812)TCT>TTT	p.S1604F	SHROOM3_uc003hkg.2_Missense_Mutation_p.S1382F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1604					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---
ANKRD56	345079	broad.mit.edu	37	4	77817430	77817430	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77817430G>A	uc003hki.2	-	1	1573	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	525											0																		---	---	---	---
SEPT11	55752	broad.mit.edu	37	4	77926846	77926846	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77926846C>T	uc003hkj.2	+	3	397	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SEPT11_uc010ijh.1_Missense_Mutation_p.R71W|SEPT11_uc011cca.1_Missense_Mutation_p.R89W	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	79					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79367983	79367983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79367983G>A	uc003hlb.2	+	43	6399	c.5959G>A	c.(5959-5961)GAC>AAC	p.D1987N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1986	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79461776	79461776	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79461776C>T	uc003hlb.2	+	74	11977	c.11537C>T	c.(11536-11538)GCT>GTT	p.A3846V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3841	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81188238	81188238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81188238G>A	uc003hmd.2	+	1	497	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	FGF5_uc003hme.2_Missense_Mutation_p.R87Q	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	87					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967100	81967100	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967100C>T	uc003hmg.3	+	2	845	c.525C>T	c.(523-525)AAC>AAT	p.N175N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967414	81967414	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967414C>T	uc003hmg.3	+	2	1159	c.839C>T	c.(838-840)GCC>GTC	p.A280V		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	280					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5																		---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82096046	82096046	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82096046T>G	uc003hmh.2	-	2	543	c.529A>C	c.(529-531)ATC>CTC	p.I177L	PRKG2_uc011cch.1_Missense_Mutation_p.I177L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	177	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7																		---	---	---	---
ENOPH1	58478	broad.mit.edu	37	4	83378162	83378162	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83378162A>G	uc003hmv.2	+	5	874	c.617A>G	c.(616-618)AAC>AGC	p.N206S	ENOPH1_uc003hmw.2_Missense_Mutation_p.N118S|ENOPH1_uc003hmx.2_Missense_Mutation_p.N60S	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	206					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0																		---	---	---	---
MRPS18C	51023	broad.mit.edu	37	4	84379541	84379541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84379541T>C	uc003hor.3	+	3	306	c.193T>C	c.(193-195)TGT>CGT	p.C65R	HELQ_uc003hom.2_5'Flank|HELQ_uc010ikb.2_5'Flank|HELQ_uc003hol.3_5'Flank|HELQ_uc010ikc.2_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank|MRPS18C_uc011ccu.1_Missense_Mutation_p.C65R	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)																---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414655	85414655	+	Silent	SNP	G	A	A	rs140353706	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85414655G>A	uc003hpa.1	-	3	897	c.891C>T	c.(889-891)GCC>GCT	p.A297A		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	297					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)														---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85552990	85552990	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85552990T>A	uc011ccv.1	+	6	1097	c.599T>A	c.(598-600)CTG>CAG	p.L200Q	CDS1_uc010ike.1_Missense_Mutation_p.L4Q	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	200	Helical; (Potential).				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612938	85612938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612938T>C	uc003hpd.2	-	60	9458	c.9050A>G	c.(9049-9051)GAA>GGA	p.E3017G	WDFY3_uc003hpe.1_Missense_Mutation_p.E628G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3017						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85612945	85612945	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85612945A>T	uc003hpd.2	-						WDFY3_uc003hpe.1_Intron	NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85657439	85657439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85657439G>A	uc003hpd.2	-	42	7207	c.6799C>T	c.(6799-6801)CCC>TCC	p.P2267S	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2267						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85658471	85658471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85658471A>T	uc003hpd.2	-	41	7031	c.6623T>A	c.(6622-6624)ATA>AAA	p.I2208K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2208						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85687073	85687073	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85687073A>G	uc003hpd.2	-	32	5486	c.5078T>C	c.(5077-5079)GTC>GCC	p.V1693A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1693						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85707196	85707196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85707196G>A	uc003hpd.2	-	24	4406	c.3998C>T	c.(3997-3999)TCT>TTT	p.S1333F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1333						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85771148	85771148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85771148T>C	uc003hpd.2	-	5	619	c.211A>G	c.(211-213)ACA>GCA	p.T71A	WDFY3_uc003hpf.2_Missense_Mutation_p.T71A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	71						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916261	86916261	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916261G>A	uc003hpk.2	+	9	1903	c.1454G>A	c.(1453-1455)GGC>GAC	p.G485D	ARHGAP24_uc003hpl.2_Missense_Mutation_p.G390D|ARHGAP24_uc010ikf.2_Missense_Mutation_p.G400D|ARHGAP24_uc003hpm.2_Missense_Mutation_p.G392D	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	485					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916682	86916682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86916682T>C	uc003hpk.2	+	9	2324	c.1875T>C	c.(1873-1875)AGT>AGC	p.S625S	ARHGAP24_uc003hpl.2_Silent_p.S530S|ARHGAP24_uc010ikf.2_Silent_p.S540S|ARHGAP24_uc003hpm.2_Silent_p.S532S	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	625					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86950338	86950338	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86950338G>A	uc003hpq.2	-						MAPK10_uc010ikg.2_Intron|MAPK10_uc003hpr.2_Intron|MAPK10_uc003hps.2_Intron|MAPK10_uc003hpt.2_Intron|MAPK10_uc003hpu.2_Intron|MAPK10_uc003hpv.2_Intron|MAPK10_uc003hpn.2_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Intron|MAPK10_uc003hpp.2_Intron	NM_138982	NP_620448			mitogen-activated protein kinase 10 isoform 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87693926	87693926	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87693926T>C	uc003hpz.2	+						PTPN13_uc003hpy.2_Intron|PTPN13_uc003hqa.2_Intron|PTPN13_uc003hqb.2_Intron|PTPN13_uc003hqc.1_Intron	NM_080683	NP_542414			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87694086	87694086	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87694086A>G	uc003hpz.2	+	32	5804	c.5324A>G	c.(5323-5325)GAA>GGA	p.E1775G	PTPN13_uc003hpy.2_Missense_Mutation_p.E1780G|PTPN13_uc003hqa.2_Missense_Mutation_p.E1756G|PTPN13_uc003hqb.2_Missense_Mutation_p.E1584G|PTPN13_uc003hqc.1_Missense_Mutation_p.E141G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1775						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
C4orf36	132989	broad.mit.edu	37	4	87809323	87809323	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87809323C>T	uc003hqe.3	-	3	484	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	57											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)														---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87967930	87967930	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87967930G>T	uc003hqj.3	+	3	629	c.222G>T	c.(220-222)AAG>AAT	p.K74N	AFF1_uc011ccx.1_Missense_Mutation_p.K15N|AFF1_uc003hqh.1_Missense_Mutation_p.K81N|AFF1_uc011ccy.1_Missense_Mutation_p.K81N|AFF1_uc011ccz.1_Missense_Mutation_p.K81N|AFF1_uc003hqk.3_Missense_Mutation_p.K74N|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	74						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88055677	88055677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88055677A>G	uc003hqj.3	+	19	3749	c.3342A>G	c.(3340-3342)GTA>GTG	p.V1114V	AFF1_uc011ccz.1_Silent_p.V1122V|AFF1_uc003hqk.3_Silent_p.V1115V|AFF1_uc011cda.1_Silent_p.V753V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1114						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88394950	88394950	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88394950T>C	uc010ikm.2	-	12	2544	c.1972A>G	c.(1972-1974)ATA>GTA	p.I658V	SPARCL1_uc011cdc.1_Missense_Mutation_p.I533V|SPARCL1_uc003hqs.3_Missense_Mutation_p.I658V|SPARCL1_uc011cdd.1_Missense_Mutation_p.I533V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	658					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)														---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535299	88535299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88535299T>C	uc003hqu.2	+	5	1605	c.1485T>C	c.(1483-1485)TCT>TCC	p.S495S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	495	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88731774	88731774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88731774G>T	uc003hqx.3	+	6	361	c.263G>T	c.(262-264)GGA>GTA	p.G88V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	88	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732877	88732877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88732877G>A	uc003hqx.3	+	7	867	c.769G>A	c.(769-771)GTT>ATT	p.V257I		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	257					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)														---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88964569	88964569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88964569T>C	uc003hre.2	+	5	1345	c.1279T>C	c.(1279-1281)TCA>CCA	p.S427P	PKD2_uc011cdf.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	427	Extracellular (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)														---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89384765	89384765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89384765A>G	uc003hrt.2	+	5	924	c.771A>G	c.(769-771)CTA>CTG	p.L257L		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	257	RCC1 3.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89577147	89577147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89577147T>C	uc003hrw.1	+	9	1196	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	HERC3_uc003hrv.2_Missense_Mutation_p.Y344H|HERC3_uc011cdn.1_Missense_Mutation_p.Y226H|HERC3_uc011cdo.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	344	RCC1 7.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89588651	89588651	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89588651T>C	uc003hrw.1	+						HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421			hect domain and RLD 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89668866	89668866	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89668866C>T	uc003hse.1	-	18	2506	c.2298G>A	c.(2296-2298)AAG>AAA	p.K766K	FAM13A_uc003hsa.1_Silent_p.K237K|FAM13A_uc003hsb.1_Silent_p.K440K|FAM13A_uc003hsd.1_Silent_p.K440K|FAM13A_uc003hsc.1_Silent_p.K426K|FAM13A_uc011cdq.1_Silent_p.K412K|FAM13A_uc003hsf.1_Silent_p.K352K|FAM13A_uc003hsg.1_Silent_p.K237K	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	766					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
TIGD2	166815	broad.mit.edu	37	4	90034768	90034768	+	Missense_Mutation	SNP	G	A	A	rs147964825		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90034768G>A	uc003hsk.2	+	1	801	c.643G>A	c.(643-645)GCA>ACA	p.A215T	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	215	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)														---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94690472	94690472	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94690472C>T	uc011cdt.1	+	15	2730	c.2472C>T	c.(2470-2472)GGC>GGT	p.G824G	GRID2_uc011cdu.1_Silent_p.G729G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)													---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95162126	95162126	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95162126A>T	uc003htc.3	+	6	929	c.674A>T	c.(673-675)GAT>GTT	p.D225V	SMARCAD1_uc003htb.3_Missense_Mutation_p.D225V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D225V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D88V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	225					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95174135	95174135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95174135C>T	uc003htc.3	+	9	1513	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	SMARCAD1_uc003htb.3_Missense_Mutation_p.P420S|SMARCAD1_uc003htd.3_Missense_Mutation_p.P420S|SMARCAD1_uc010ila.2_Missense_Mutation_p.P283S|SMARCAD1_uc011cdw.1_5'Flank	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	420					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95496995	95496995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95496995T>C	uc003hti.2	+	5	671	c.520T>C	c.(520-522)TTC>CTC	p.F174L	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.F52L	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	174					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95575695	95575695	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95575695T>C	uc003hti.2	+	10	1519	c.1368T>C	c.(1366-1368)ATT>ATC	p.I456I	PDLIM5_uc011cdx.1_Silent_p.I353I|PDLIM5_uc003hth.2_Silent_p.I347I|PDLIM5_uc003htj.2_Silent_p.I131I|PDLIM5_uc003htk.2_Silent_p.I485I|PDLIM5_uc011cdy.1_Silent_p.I334I|PDLIM5_uc003htl.2_Silent_p.I131I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	456	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96025677	96025677	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96025677C>T	uc003htm.3	+	4	376	c.102C>T	c.(100-102)TGC>TGT	p.C34C	BMPR1B_uc010ilb.2_Silent_p.C34C|BMPR1B_uc003htn.3_Silent_p.C34C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	34	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96035907	96035907	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96035907T>C	uc003htm.3	+	5	454	c.180T>C	c.(178-180)GAT>GAC	p.D60D	BMPR1B_uc010ilb.2_Silent_p.D60D|BMPR1B_uc003htn.3_Silent_p.D60D	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	60	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761865	96761865	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96761865T>C	uc003htr.3	+	1	627	c.564T>C	c.(562-564)TGT>TGC	p.C188C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	188					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)													---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99969899	99969899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99969899G>A	uc003huf.3	+	9	920	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	268					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---
ADH7	131	broad.mit.edu	37	4	100341722	100341722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100341722T>C	uc003huv.1	-	6	928	c.829A>G	c.(829-831)ACC>GCC	p.T277A		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	277					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)													---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522814	100522814	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100522814G>A	uc003hvc.3	+	11	1543	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I	MTTP_uc011cej.1_Missense_Mutation_p.M456I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	429	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100824976	100824976	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100824976A>T	uc003hvl.2	-	7	1073	c.922T>A	c.(922-924)TAT>AAT	p.Y308N	DNAJB14_uc003hvk.2_Missense_Mutation_p.Y223N|DNAJB14_uc010ili.2_Missense_Mutation_p.Y241N	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	308					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DNAJB14	79982	broad.mit.edu	37	4	100844339	100844339	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100844339T>C	uc003hvl.2	-	3	460	c.309A>G	c.(307-309)ATA>ATG	p.I103M	DNAJB14_uc003hvk.2_Missense_Mutation_p.I18M|DNAJB14_uc010ili.2_Missense_Mutation_p.I36M	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	103					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108899	101108899	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108899C>A	uc003hvq.2	-	3	720	c.517G>T	c.(517-519)GGA>TGA	p.G173*		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	173					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108907	101108907	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108907A>G	uc003hvq.2	-	3	712	c.509T>C	c.(508-510)CTC>CCC	p.L170P		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	170					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108927	101108927	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108927A>C	uc003hvq.2	-	3	692	c.489T>G	c.(487-489)GGT>GGG	p.G163G		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	163					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101108948	101108948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101108948A>G	uc003hvq.2	-	3	671	c.468T>C	c.(466-468)AGT>AGC	p.S156S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	156					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500113	103500113	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500113T>G	uc011ceq.1	+	8	1111	c.644T>G	c.(643-645)ATG>AGG	p.M215R	NFKB1_uc011cep.1_Missense_Mutation_p.M216R|NFKB1_uc011cer.1_Missense_Mutation_p.M35R	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	215	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103500181	103500181	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103500181G>A	uc011ceq.1	+	8	1179	c.712G>A	c.(712-714)GCC>ACC	p.A238T	NFKB1_uc011cep.1_Missense_Mutation_p.A239T|NFKB1_uc011cer.1_Missense_Mutation_p.A58T	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	238	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103501757	103501757	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103501757G>T	uc011ceq.1	+	9	1260	c.793G>T	c.(793-795)GGG>TGG	p.G265W	NFKB1_uc011cep.1_Missense_Mutation_p.G266W|NFKB1_uc011cer.1_Missense_Mutation_p.G85W	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	265	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103514652	103514652	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103514652T>C	uc011ceq.1	+	12	1601	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	NFKB1_uc011cep.1_Silent_p.S379S|NFKB1_uc011cer.1_Silent_p.S198S	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	378	GRR.|Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103527752	103527752	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103527752T>G	uc011ceq.1	+	17	2316	c.1849T>G	c.(1849-1851)TCT>GCT	p.S617A	NFKB1_uc011cep.1_Missense_Mutation_p.S618A|NFKB1_uc011cer.1_Missense_Mutation_p.S437A	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	617	Interaction with CFLAR.|ANK 3.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)													---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103595084	103595084	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103595084G>T	uc003hwg.2	-	8	1204	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T	MANBA_uc011ces.1_Silent_p.T311T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	368					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103827697	103827697	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103827697A>G	uc003hww.2	-	10	1313	c.1191T>C	c.(1189-1191)ATT>ATC	p.I397I	NHEDC1_uc003hwu.2_Silent_p.I397I|NHEDC1_uc010ilm.2_Silent_p.I164I|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Silent_p.I170I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	397						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103870469	103870469	+	Silent	SNP	T	A	A	rs139729203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103870469T>A	uc003hww.2	-	4	449	c.327A>T	c.(325-327)GGA>GGT	p.G109G	NHEDC1_uc003hwu.2_Silent_p.G109G|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	109	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104059586	104059586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104059586T>C	uc003hxb.1	-	39	6315	c.6225A>G	c.(6223-6225)GTA>GTG	p.V2075V	CENPE_uc003hxc.1_Silent_p.V1954V|CENPE_uc003hxd.1_RNA	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2075	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104080340	104080340	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104080340A>G	uc003hxb.1	-	22	2518	c.2428T>C	c.(2428-2430)TCG>CCG	p.S810P	CENPE_uc003hxc.1_Missense_Mutation_p.S785P	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	810	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104101599	104101599	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104101599T>C	uc003hxb.1	-	13	1201	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	CENPE_uc003hxc.1_Missense_Mutation_p.M371V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	371	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104106977	104106977	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104106977T>C	uc003hxb.1	-	9	825	c.735A>G	c.(733-735)ACA>ACG	p.T245T	CENPE_uc003hxc.1_Silent_p.T245T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	245	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104577457	104577457	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104577457A>C	uc003hxe.1	-	3	925	c.782T>G	c.(781-783)CTC>CGC	p.L261R		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	261	Helical; Name=5; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)														---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155657	106155657	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106155657G>A	uc003hxk.2	+	3	944	c.558G>A	c.(556-558)GAG>GAA	p.E186E	TET2_uc011cez.1_Silent_p.E207E|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.E186E|TET2_uc003hxi.1_Silent_p.E186E	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	186					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
TET2	54790	broad.mit.edu	37	4	106156631	106156631	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106156631A>G	uc003hxk.2	+	3	1918	c.1532A>G	c.(1531-1533)CAC>CGC	p.H511R	TET2_uc011cez.1_Missense_Mutation_p.H532R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H511R|TET2_uc003hxi.1_Missense_Mutation_p.H511R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	511					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)				Mis N|F		MDS								---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106848532	106848532	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106848532G>A	uc003hya.2	+	3	417	c.212G>A	c.(211-213)GGG>GAG	p.G71E	NPNT_uc011cfc.1_Missense_Mutation_p.G88E|NPNT_uc011cfd.1_Missense_Mutation_p.G71E|NPNT_uc011cfe.1_Missense_Mutation_p.G71E|NPNT_uc010ilt.1_Missense_Mutation_p.G71E|NPNT_uc011cff.1_Missense_Mutation_p.G71E|NPNT_uc010ilu.1_5'UTR	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	71	EGF-like 1.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106861286	106861286	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106861286T>C	uc003hya.2	+	6	765	c.560T>C	c.(559-561)GTC>GCC	p.V187A	NPNT_uc011cfc.1_Missense_Mutation_p.V204A|NPNT_uc011cfd.1_Missense_Mutation_p.V217A|NPNT_uc011cfe.1_Missense_Mutation_p.V217A|NPNT_uc010ilt.1_Missense_Mutation_p.V187A|NPNT_uc011cff.1_Missense_Mutation_p.V187A|NPNT_uc010ilu.1_Missense_Mutation_p.V83A	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	187	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
PAPSS1	9061	broad.mit.edu	37	4	108566127	108566127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108566127C>T	uc003hyk.2	-	10	1421	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	446	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)														---	---	---	---
HADH	3033	broad.mit.edu	37	4	108954337	108954337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108954337G>A	uc003hyq.2	+	7	864	c.715G>A	c.(715-717)GCA>ACA	p.A239T	HADH_uc010ilx.2_Missense_Mutation_p.A256T|HADH_uc010ily.2_Missense_Mutation_p.A62T|HADH_uc003hyr.2_Missense_Mutation_p.A243T	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	239					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)													---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110427546	110427546	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110427546A>G	uc003hzk.2	+	7	1606	c.1551A>G	c.(1549-1551)CCA>CCG	p.P517P	SEC24B_uc003hzl.2_Silent_p.P482P|SEC24B_uc011cfp.1_Silent_p.P547P|SEC24B_uc011cfq.1_Silent_p.P516P|SEC24B_uc011cfr.1_Silent_p.P481P	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	517					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)														---	---	---	---
CFI	3426	broad.mit.edu	37	4	110685814	110685814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110685814T>C	uc003hzr.3	-	3	569	c.361A>G	c.(361-363)ACA>GCA	p.T121A	CFI_uc003hzq.2_5'Flank|CFI_uc011cft.1_Missense_Mutation_p.T121A|CFI_uc003hzs.3_Missense_Mutation_p.T121A	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	121	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)														---	---	---	---
EGF	1950	broad.mit.edu	37	4	110925696	110925696	+	Missense_Mutation	SNP	C	A	A	rs121434567		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110925696C>A	uc003hzy.3	+	22	3661	c.3209C>A	c.(3208-3210)CCT>CAT	p.P1070H	EGF_uc011cfu.1_Missense_Mutation_p.P1028H|EGF_uc011cfv.1_Missense_Mutation_p.P1029H|EGF_uc010imk.2_Missense_Mutation_p.P218H	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1070	Cytoplasmic (Potential).		P -> L (in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation).		angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)													---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111474605	111474605	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111474605T>C	uc003iab.3	+	18	2978	c.2636T>C	c.(2635-2637)GTC>GCC	p.V879A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	879	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113353667	113353667	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113353667G>A	uc003iap.3	+	11	3243	c.2964G>A	c.(2962-2964)AGG>AGA	p.R988R	ALPK1_uc003ian.3_Silent_p.R988R|ALPK1_uc011cfx.1_Silent_p.R910R|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.R816R	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	988							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113362087	113362087	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113362087A>G	uc003iap.3	+	15	3832	c.3553A>G	c.(3553-3555)AAT>GAT	p.N1185D	ALPK1_uc003ian.3_Missense_Mutation_p.N1185D|ALPK1_uc011cfx.1_Missense_Mutation_p.N1107D|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.N1013D	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1185	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)														---	---	---	---
MIR302A	407028	broad.mit.edu	37	4	113569359	113569359	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113569359C>G	hsa-mir-302a|MI0000738	-			c.49C>G			LARP7_uc003iay.2_Intron|LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank|MIR302D_hsa-mir-302d|MI0000774_5'Flank|uc011cfz.1_RNA																	0																		---	---	---	---
ANK2	287	broad.mit.edu	37	4	114276808	114276808	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114276808A>G	uc003ibe.3	+	38	7134	c.7034A>G	c.(7033-7035)GAG>GGG	p.E2345G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2360G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277375	114277375	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114277375G>T	uc003ibe.3	+	38	7701	c.7601G>T	c.(7600-7602)AGC>ATC	p.S2534I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2549I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2501					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280116	114280116	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114280116A>G	uc003ibe.3	+	38	10442	c.10342A>G	c.(10342-10344)AGC>GGC	p.S3448G	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S750G|ANK2_uc011cgb.1_Missense_Mutation_p.S3463G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3415					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114294255	114294255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114294255A>G	uc003ibe.3	+	44	11720	c.11620A>G	c.(11620-11622)ATG>GTG	p.M3874V	ANK2_uc003ibd.3_Missense_Mutation_p.M1780V|ANK2_uc003ibf.3_Missense_Mutation_p.M1789V|ANK2_uc011cgc.1_Missense_Mutation_p.M965V|ANK2_uc003ibg.3_Missense_Mutation_p.M804V|ANK2_uc003ibh.3_Missense_Mutation_p.M494V|ANK2_uc011cgd.1_Missense_Mutation_p.M1176V|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3841					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114473243	114473243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114473243T>C	uc003ibi.2	-	5	1144	c.285A>G	c.(283-285)GGA>GGG	p.G95G	CAMK2D_uc003ibj.2_Silent_p.G95G|CAMK2D_uc003ibk.2_Silent_p.G95G|CAMK2D_uc003ibo.3_Silent_p.G95G|CAMK2D_uc003ibm.2_Silent_p.G95G|CAMK2D_uc003ibn.2_Silent_p.G95G|CAMK2D_uc003ibl.2_Silent_p.G95G	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	95	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767046	115767046	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115767046A>G	uc003ibu.2	-	10	2727	c.2048T>C	c.(2047-2049)CTT>CCT	p.L683P	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	683	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115998016	115998016	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115998016T>A	uc003ibu.2	-	2	856	c.177A>T	c.(175-177)CCA>CCT	p.P59P	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	59	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005579	118005579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:118005579A>G	uc003ibv.3	-	1	1158	c.971T>C	c.(970-972)GTA>GCA	p.V324A		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	324	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631199	119631199	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631199A>G	uc003icf.2	+	11	1229	c.1113A>G	c.(1111-1113)GCA>GCG	p.A371A	METTL14_uc003icg.2_Silent_p.A333A	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	371						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119631225	119631225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119631225C>T	uc003icf.2	+	11	1255	c.1139C>T	c.(1138-1140)GCT>GTT	p.A380V	METTL14_uc003icg.2_Missense_Mutation_p.A342V	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	380						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644689	119644689	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644689A>G	uc003ici.3	-	23	3352	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.I1028T	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1027					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644736	119644736	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119644736G>A	uc003ici.3	-	23	3305	c.3033C>T	c.(3031-3033)TAC>TAT	p.Y1011Y	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119686061	119686061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119686061A>G	uc003ici.3	-	10	1464	c.1192T>C	c.(1192-1194)TAT>CAT	p.Y398H	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399H|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0																		---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119947952	119947952	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119947952C>A	uc003icm.3	+	3	624	c.428C>A	c.(427-429)GCT>GAT	p.A143D	SYNPO2_uc010ina.2_Missense_Mutation_p.A143D|SYNPO2_uc010inb.2_Missense_Mutation_p.A143D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A71D	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	143						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
MYOZ2	51778	broad.mit.edu	37	4	120107215	120107215	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120107215T>G	uc003icp.3	+	6	868	c.655T>G	c.(655-657)TTT>GTT	p.F219V		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	219							protein phosphatase 2B binding				0																		---	---	---	---
USP53	54532	broad.mit.edu	37	4	120181691	120181691	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120181691C>T	uc003ics.3	+	10	1771	c.705C>T	c.(703-705)CGC>CGT	p.R235R	USP53_uc003icr.3_Silent_p.R235R|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	235					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121719441	121719441	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121719441A>T	uc003idn.2	-	10	1419	c.1169T>A	c.(1168-1170)GTT>GAT	p.V390D	PRDM5_uc003ido.2_Missense_Mutation_p.V359D|PRDM5_uc010ine.2_Missense_Mutation_p.V359D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	390	C2H2-type 8.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121742449	121742449	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121742449C>G	uc003idn.2	-	4	602	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	PRDM5_uc003ido.2_Missense_Mutation_p.E118Q|PRDM5_uc010ine.2_Missense_Mutation_p.E118Q|PRDM5_uc010inf.2_Missense_Mutation_p.E118Q	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	118	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
C4orf31	79625	broad.mit.edu	37	4	121957507	121957507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121957507G>A	uc003idq.1	-	4	2146	c.1619C>T	c.(1618-1620)TCT>TTT	p.S540F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	540	Fibronectin type-III 2.										0																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122075702	122075702	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122075702A>G	uc010ing.2	-						TNIP3_uc010inh.2_Intron|TNIP3_uc011cgj.1_Intron|TNIP3_uc010ini.2_Missense_Mutation_p.S166P	NM_024873	NP_079149			TNFAIP3 interacting protein 3											ovary(1)	1																		---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122728787	122728787	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122728787G>A	uc003iea.2	+						EXOSC9_uc003idz.2_Intron|EXOSC9_uc003ieb.2_Intron|EXOSC9_uc010inp.1_Intron	NM_005033	NP_005024			exosome component 9 isoform 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122782845	122782845	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122782845T>A	uc003ied.2	-						BBS7_uc003iee.1_Intron|BBS7_uc010inq.1_Intron	NM_176824	NP_789794			Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122833021	122833021	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122833021A>G	uc003ieg.2	-						TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Intron|TRPC3_uc011cgl.1_Intron	NM_001130698	NP_001124170			transient receptor potential cation channel,						axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107245	123107245	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123107245T>C	uc003ieh.2	+	5	458	c.413T>C	c.(412-414)GTC>GCC	p.V138A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	138					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123109221	123109221	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123109221T>G	uc003ieh.2	+	7	844	c.799T>G	c.(799-801)TAT>GAT	p.Y267D	KIAA1109_uc003iei.1_Missense_Mutation_p.Y21D	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	267					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123176118	123176118	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123176118T>C	uc003ieh.2	+						KIAA1109_uc003iel.1_Intron|KIAA1109_uc003iek.2_Intron	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123184100	123184100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123184100G>A	uc003ieh.2	+	41	6989	c.6944G>A	c.(6943-6945)AGC>AAC	p.S2315N	KIAA1109_uc003iel.1_Missense_Mutation_p.S250N|KIAA1109_uc003iek.2_Missense_Mutation_p.S934N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2315					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123229282	123229282	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123229282G>A	uc003ieh.2	+	56	10065	c.10020G>A	c.(10018-10020)CTG>CTA	p.L3340L	KIAA1109_uc003iel.1_Silent_p.L1275L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3340					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123254921	123254921	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123254921A>G	uc003ieh.2	+	66	11648	c.11603A>G	c.(11602-11604)GAC>GGC	p.D3868G	KIAA1109_uc003iem.2_Missense_Mutation_p.D259G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3868					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123257435	123257435	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123257435T>A	uc003ieh.2	+	68	11982	c.11937T>A	c.(11935-11937)AGT>AGA	p.S3979R	KIAA1109_uc003iem.2_Missense_Mutation_p.S335R|KIAA1109_uc003ien.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3979					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302219	123302219	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123302219T>A	uc003ieo.2	+	4	477	c.245T>A	c.(244-246)ATA>AAA	p.I82K	ADAD1_uc003iep.2_Missense_Mutation_p.I82K|ADAD1_uc003ieq.2_Missense_Mutation_p.I64K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	82					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123329057	123329057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123329057T>C	uc003ieo.2	+						ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Intron	NM_139243	NP_640336			adenosine deaminase domain containing 1						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123838694	123838694	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123838694C>T	uc003iew.2	-	2	436	c.404G>A	c.(403-405)AGA>AAA	p.R135K	NUDT6_uc003iex.2_5'UTR	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	135						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123843587	123843587	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123843587C>A	uc003iew.2	-	1	173	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	47						mitochondrion|nucleus	growth factor activity|hydrolase activity				0																		---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123844395	123844395	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123844395C>T	uc003iez.3	+	1	171	c.98C>T	c.(97-99)CCT>CTT	p.P33L	SPATA5_uc003iey.2_Missense_Mutation_p.P33L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	33					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590911	125590911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125590911C>T	uc003ifg.3	-	3	3787	c.3521G>A	c.(3520-3522)CGG>CAG	p.R1174Q	ANKRD50_uc011cgo.1_Missense_Mutation_p.R995Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R1174Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1174	Ser-rich.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591399	125591399	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591399T>C	uc003ifg.3	-	3	3299	c.3033A>G	c.(3031-3033)GAA>GAG	p.E1011E	ANKRD50_uc011cgo.1_Silent_p.E832E|ANKRD50_uc010inw.2_Silent_p.E1011E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1011	ANK 17.									central_nervous_system(1)	1																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591412	125591412	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125591412G>T	uc003ifg.3	-	3	3286	c.3020C>A	c.(3019-3021)GCT>GAT	p.A1007D	ANKRD50_uc011cgo.1_Missense_Mutation_p.A828D|ANKRD50_uc010inw.2_Missense_Mutation_p.A1007D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1007	ANK 16.									central_nervous_system(1)	1																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239682	126239682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239682A>G	uc003ifj.3	+	1	2116	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	706	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241702	126241702	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126241702A>T	uc003ifj.3	+	1	4136	c.4136A>T	c.(4135-4137)GAC>GTC	p.D1379V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1379	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126371457	126371457	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126371457G>A	uc003ifj.3	+	9	9286	c.9286G>A	c.(9286-9288)GCA>ACA	p.A3096T	FAT4_uc011cgp.1_Missense_Mutation_p.A1394T|FAT4_uc003ifi.1_Missense_Mutation_p.A574T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3096	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373323	126373323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126373323G>A	uc003ifj.3	+	9	11152	c.11152G>A	c.(11152-11154)GGC>AGC	p.G3718S	FAT4_uc011cgp.1_Missense_Mutation_p.G2016S|FAT4_uc003ifi.1_Missense_Mutation_p.G1196S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3718	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411099	126411099	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126411099A>C	uc003ifj.3	+	17	13122	c.13122A>C	c.(13120-13122)GAA>GAC	p.E4374D	FAT4_uc011cgp.1_Missense_Mutation_p.E2615D|FAT4_uc003ifi.1_Missense_Mutation_p.E1851D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4374	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412663	126412663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126412663C>T	uc003ifj.3	+	17	14686	c.14686C>T	c.(14686-14688)CGC>TGC	p.R4896C	FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4896	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128584698	128584698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128584698T>C	uc003ifk.1	+	4	1001	c.931T>C	c.(931-933)TAT>CAT	p.Y311H	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	311										ovary(1)	1																		---	---	---	---
INTU	27152	broad.mit.edu	37	4	128627710	128627710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128627710A>G	uc003ifk.1	+	12	1927	c.1857A>G	c.(1855-1857)GGA>GGG	p.G619G	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	619										ovary(1)	1																		---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128724795	128724795	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128724795T>C	uc003ifm.2	+	7	928	c.675T>C	c.(673-675)ACT>ACC	p.T225T	HSPA4L_uc010iny.1_Silent_p.T184T|HSPA4L_uc011cgr.1_Silent_p.T192T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	225					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129812262	129812262	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129812262G>A	uc003igp.2	-	19	2366	c.1860C>T	c.(1858-1860)ACC>ACT	p.T620T	SCLT1_uc003ign.2_Silent_p.T284T|SCLT1_uc003igo.2_Silent_p.T230T|SCLT1_uc003igq.2_Silent_p.T239T|SCLT1_uc010iob.1_Silent_p.T107T	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	620	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129886438	129886438	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129886438T>G	uc003igp.2	-	11	1319	c.813A>C	c.(811-813)GAA>GAC	p.E271D	SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	271	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129920859	129920859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129920859G>A	uc003igp.2	-	7	1023	c.517C>T	c.(517-519)CAG>TAG	p.Q173*	SCLT1_uc003igo.2_5'Flank|SCLT1_uc003igq.2_Nonsense_Mutation_p.Q173*|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	173	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071888	134071888	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134071888G>A	uc003iha.2	+	1	1419	c.593G>A	c.(592-594)CGC>CAC	p.R198H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R198H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073742	134073742	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134073742A>G	uc003iha.2	+	1	3273	c.2447A>G	c.(2446-2448)AAC>AGC	p.N816S	PCDH10_uc003igz.2_Missense_Mutation_p.N816S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	816	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451511	138451511	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451511C>A	uc003ihe.3	-	1	2119	c.1732G>T	c.(1732-1734)GGG>TGG	p.G578W	PCDH18_uc003ihf.3_Missense_Mutation_p.G571W|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G358W|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	578	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
SLC7A11	23657	broad.mit.edu	37	4	139103485	139103485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139103485C>T	uc011chb.1	-	9	1362	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	361	Cytoplasmic (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)													---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140265423	140265423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140265423A>T	uc003ihu.1	+	6	877	c.621A>T	c.(619-621)AGA>AGT	p.R207S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	207					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641423	140641423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140641423C>T	uc003ihz.1	-	7	3208	c.2456G>A	c.(2455-2457)CGA>CAA	p.R819Q	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R287Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	820	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811420	140811420	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811420C>T	uc003ihz.1	-	2	1922	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	390					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811851	140811851	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140811851C>A	uc003ihz.1	-	2	1491	c.739G>T	c.(739-741)GGT>TGT	p.G247C	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	247					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141310438	141310438	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141310438G>A	uc011chi.1	-	16	1991	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	CLGN_uc003iii.2_Silent_p.S591S	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	591	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141321662	141321662	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141321662T>C	uc011chi.1	-	8	761	c.543A>G	c.(541-543)GGA>GGG	p.G181G	CLGN_uc003iii.2_Silent_p.G181G	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	181	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
RNF150	57484	broad.mit.edu	37	4	142053845	142053845	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142053845A>G	uc003iio.1	-	1	772	c.118T>C	c.(118-120)TAC>CAC	p.Y40H	RNF150_uc010iok.1_Missense_Mutation_p.Y40H|RNF150_uc003iip.1_Missense_Mutation_p.Y40H	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	40	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
IL15	3600	broad.mit.edu	37	4	142649144	142649144	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142649144A>G	uc003iis.2	+						IL15_uc003iit.2_Intron|IL15_uc010iol.2_Intron|IL15_uc003iiu.2_Intron	NM_000585	NP_000576			interleukin 15 preproprotein						cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143067143	143067143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143067143C>T	uc003iix.3	-	19	2165	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	INPP4B_uc003iiw.3_Missense_Mutation_p.V524M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V339M|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V395M	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	524					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143181673	143181673	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143181673T>G	uc003iix.3	-	12	1255	c.660A>C	c.(658-660)GGA>GGC	p.G220G	INPP4B_uc003iiw.3_Silent_p.G220G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G35G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G91G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144127279	144127279	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144127279A>G	uc003ijb.2	+	6	1837	c.1303A>G	c.(1303-1305)AGA>GGA	p.R435G	USP38_uc003ija.3_Missense_Mutation_p.R435G|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	435					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)																	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144380563	144380563	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144380563A>G	uc003ije.2	+	7	1970	c.1611A>G	c.(1609-1611)AAA>AAG	p.K537K	GAB1_uc003ijd.2_Silent_p.K567K|GAB1_uc011chq.1_Silent_p.K434K	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	537	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)																	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144468578	144468578	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144468578G>A	uc003ijg.2	+	21	3156	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
GYPA	2993	broad.mit.edu	37	4	145038087	145038087	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:145038087T>G	uc003ijo.3	-	5	393	c.277A>C	c.(277-279)ACA>CCA	p.T93P	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.T60P|GYPA_uc003ijp.3_Missense_Mutation_p.T61P|GYPA_uc010ioq.2_Missense_Mutation_p.T80P|GYPA_uc010ior.2_Missense_Mutation_p.T28P|GYPA_uc010ios.1_RNA	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	93	Helical.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058572	146058572	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146058572G>A	uc003ika.3	-	21					OTUD4_uc003ijz.3_3'UTR	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146059221	146059221	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146059221A>G	uc003ika.3	-	21	2649	c.2511T>C	c.(2509-2511)GAT>GAC	p.D837D	OTUD4_uc003ijz.3_Silent_p.D836D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	901							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146065564	146065564	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146065564G>T	uc003ika.3	-	15	1388	c.1250C>A	c.(1249-1251)GCT>GAT	p.A417D	OTUD4_uc003ijz.3_Missense_Mutation_p.A416D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	481							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146076712	146076712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146076712T>C	uc003ika.3	-						OTUD4_uc003ijz.3_Intron	NM_001102653	NP_001096123			OTU domain containing 4 protein isoform 3								protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146468016	146468016	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146468016C>T	uc003ikc.2	+	5	1353	c.937C>T	c.(937-939)CTG>TTG	p.L313L	SMAD1_uc003ikd.2_Silent_p.L313L|SMAD1_uc010iov.2_Silent_p.L313L|SMAD1_uc011cic.1_Silent_p.L274L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	313	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146770638	146770638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146770638A>G	uc003ikn.2	-	6	2105	c.2057T>C	c.(2056-2058)GTC>GCC	p.V686A	ZNF827_uc003ikm.2_Missense_Mutation_p.V686A|ZNF827_uc010iox.2_Missense_Mutation_p.V336A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146806922	146806922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146806922T>C	uc003ikn.2	-	4	1703	c.1655A>G	c.(1654-1656)GAC>GGC	p.D552G	ZNF827_uc003ikm.2_Missense_Mutation_p.D552G|ZNF827_uc010iox.2_Missense_Mutation_p.D202G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560286	147560286	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147560286C>T	uc003ikv.2	+	1						NM_004575	NP_004566			Brn3b POU domain transcription factor						estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)																	---	---	---	---
PRMT10	90826	broad.mit.edu	37	4	148578932	148578932	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148578932A>G	uc003ilc.2	-						PRMT10_uc003ilb.2_Intron|PRMT10_uc003ild.2_Intron	NM_138364	NP_612373			protein arginine methyltransferase 10							cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148803060	148803060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148803060T>C	uc003ilf.2	+	10	1011	c.1011T>C	c.(1009-1011)TGT>TGC	p.C337C	ARHGAP10_uc003ilg.2_5'UTR	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	337	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148993239	148993239	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148993239G>A	uc003ilf.2	+	23					ARHGAP10_uc003ilg.2_3'UTR|ARHGAP10_uc003ilh.2_3'UTR|ARHGAP10_uc003ili.2_3'UTR	NM_024605	NP_078881			Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)														---	---	---	---
MAB21L2	10586	broad.mit.edu	37	4	151504543	151504543	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151504543G>C	uc003ilw.2	+	1	1467	c.362G>C	c.(361-363)GGC>GCC	p.G121A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	121					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)														---	---	---	---
TIGD4	201798	broad.mit.edu	37	4	153690946	153690946	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153690946G>T	uc003imy.2	-	2	1993	c.1211C>A	c.(1210-1212)GCT>GAT	p.A404D		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	404					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)																	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896633	153896633	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153896633T>C	uc003inf.2	+	11	2265	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	730					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)																	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154191569	154191569	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154191569C>A	uc003ing.2	+	2	233	c.32C>A	c.(31-33)CCT>CAT	p.P11H	TRIM2_uc003inh.2_Missense_Mutation_p.P38H|TRIM2_uc003ini.1_Missense_Mutation_p.P29H	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	11						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154216755	154216755	+	Silent	SNP	C	T	T	rs116558260	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154216755C>T	uc003ing.2	+	6	1197	c.996C>T	c.(994-996)GGC>GGT	p.G332G	TRIM2_uc003inh.2_Silent_p.G359G	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	332	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154508908	154508908	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154508908T>G	uc003inm.3	+	15	1546	c.1494T>G	c.(1492-1494)GGT>GGG	p.G498G	KIAA0922_uc010ipp.2_Silent_p.G499G|KIAA0922_uc010ipq.2_Silent_p.G351G|KIAA0922_uc010ips.1_Missense_Mutation_p.V109G	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	498	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625730	154625730	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154625730T>C	uc003inq.2	+	3	1890	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	TLR2_uc003inr.2_Silent_p.D557D|TLR2_uc003ins.2_Silent_p.D557D	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	557	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)																---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156833	155156833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155156833C>T	uc003inw.2	-	25	7606	c.7606G>A	c.(7606-7608)GCC>ACC	p.A2536T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157336	155157336	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155157336T>A	uc003inw.2	-	25	7103	c.7103A>T	c.(7102-7104)GAT>GTT	p.D2368V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2368	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
FGA	2243	broad.mit.edu	37	4	155509977	155509977	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155509977T>C	uc003iod.1	-	3	390	c.332A>G	c.(331-333)GAA>GGA	p.E111G	FGA_uc003ioe.1_Missense_Mutation_p.E111G|FGA_uc003iof.1_Missense_Mutation_p.E111G	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	111	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	A	A	rs121909606		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155510666G>A	uc003iod.1	-	2	161	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156625120	156625120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156625120G>A	uc003iov.2	+	5	828	c.292G>A	c.(292-294)GCA>ACA	p.A98T	GUCY1A3_uc003iou.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqc.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iow.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A98T|GUCY1A3_uc003iox.2_Missense_Mutation_p.A98T|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A98T|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A98T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	98					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156629407	156629407	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156629407G>T	uc003iov.2	+	6	873	c.337G>T	c.(337-339)GAC>TAC	p.D113Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iow.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003iox.2_Missense_Mutation_p.D113Y|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D113Y|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D113Y	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	113					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632185	156632185	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156632185T>A	uc003iov.2	+	7	1404	c.868T>A	c.(868-870)TTC>ATC	p.F290I	GUCY1A3_uc003iou.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.F290I|GUCY1A3_uc003iow.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.F289I|GUCY1A3_uc003iox.2_Missense_Mutation_p.F290I|GUCY1A3_uc003ioz.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ioy.2_Missense_Mutation_p.F290I|GUCY1A3_uc010iqe.2_Missense_Mutation_p.F55I|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.F290I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	290					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156723547	156723547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156723547G>A	uc003ipc.2	+	10	1396	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	GUCY1B3_uc011cio.1_Missense_Mutation_p.R432H|GUCY1B3_uc011cip.1_Missense_Mutation_p.R390H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R338H|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R381H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R338H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	410					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156858514	156858514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156858514C>A	uc003ipg.2	-	5	723	c.674G>T	c.(673-675)AGT>ATT	p.S225I		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	225					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284014	158284014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158284014C>T	uc003ipm.3	+	15	2929	c.2470C>T	c.(2470-2472)CTT>TTT	p.L824F	GRIA2_uc011cit.1_Missense_Mutation_p.L777F|GRIA2_uc003ipl.3_Missense_Mutation_p.L824F|GRIA2_uc003ipk.3_Missense_Mutation_p.L777F|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	824	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)													---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159052070	159052070	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159052070T>C	uc003ipp.3	-	4	1672	c.1220A>G	c.(1219-1221)CAA>CGA	p.Q407R	FAM198B_uc003ipq.3_Missense_Mutation_p.Q415R|FAM198B_uc003ipr.3_Missense_Mutation_p.Q407R	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	407	Extracellular (Potential).					Golgi membrane|integral to membrane					0																		---	---	---	---
PPID	5481	broad.mit.edu	37	4	159640370	159640370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159640370A>G	uc003iqc.2	-	3	407	c.295T>C	c.(295-297)TAT>CAT	p.Y99H		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	99	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160252876	160252876	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160252876C>A	uc003iqg.3	+	9	1497	c.1187C>A	c.(1186-1188)CCT>CAT	p.P396H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	396	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160264153	160264153	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160264153G>A	uc003iqg.3	+	15	2768	c.2458G>A	c.(2458-2460)GCA>ACA	p.A820T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	820	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393149	164393149	+	Missense_Mutation	SNP	C	T	T	rs140731828		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393149C>T	uc003iqp.3	-	1	1899	c.1738G>A	c.(1738-1740)GTC>ATC	p.V580I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	580						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166159928	166159928	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166159928A>G	uc003irb.2	+	4	519	c.260_splice	c.e4-2	p.G87_splice	KLHL2_uc011cjm.1_Splice_Site_p.G91_splice|KLHL2_uc003irc.2_Splice_Site	NM_007246	NP_009177			kelch-like 2, Mayven isoform 1						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166160009	166160009	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166160009T>C	uc003irb.2	+	4	598	c.339T>C	c.(337-339)TAT>TAC	p.Y113Y	KLHL2_uc011cjm.1_Silent_p.Y117Y|KLHL2_uc003irc.2_Silent_p.Y25Y	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	113	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166232671	166232671	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166232671T>A	uc003irb.2	+	11	1552	c.1293T>A	c.(1291-1293)GCT>GCA	p.A431A	KLHL2_uc011cjm.1_Silent_p.A435A|KLHL2_uc003irc.2_Silent_p.A343A|KLHL2_uc010ira.2_Silent_p.A84A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	431	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166924671	166924671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166924671G>A	uc003irh.1	+	6	1408	c.761G>A	c.(760-762)AGA>AAA	p.R254K	TLL1_uc011cjn.1_Missense_Mutation_p.R254K|TLL1_uc011cjo.1_Missense_Mutation_p.R78K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	254	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167656082	167656082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167656082A>G	uc003iri.1	-	12	1442	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A	SPOCK3_uc011cjp.1_Missense_Mutation_p.V391A|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443A|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314A|SPOCK3_uc003irj.1_Missense_Mutation_p.V431A|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383A|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342A|SPOCK3_uc011cju.1_Missense_Mutation_p.V327A|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336A	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167675702	167675702	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167675702T>A	uc003iri.1	-	9	1038	c.897A>T	c.(895-897)TTA>TTT	p.L299F	SPOCK3_uc011cjp.1_Missense_Mutation_p.L256F|SPOCK3_uc011cjq.1_Missense_Mutation_p.L308F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L179F|SPOCK3_uc003irj.1_Missense_Mutation_p.L296F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L248F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L207F|SPOCK3_uc011cju.1_Missense_Mutation_p.L192F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L201F|SPOCK3_uc003irk.3_Missense_Mutation_p.L296F	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	299					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
ANXA10	11199	broad.mit.edu	37	4	169099117	169099117	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169099117A>G	uc003irm.2	+	8	756	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	ANXA10_uc003irn.2_Missense_Mutation_p.Y76C	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	204	Annexin 3.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176911	169176911	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176911C>T	uc003irp.2	-	26	3800	c.3508G>A	c.(3508-3510)GCT>ACT	p.A1170T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1170							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169176992	169176992	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169176992C>T	uc003irp.2	-	26	3719	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1143							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169294923	169294923	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169294923A>G	uc003irq.3	-	35	4891	c.4670T>C	c.(4669-4671)GTG>GCG	p.V1557A		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1557							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)														---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169433123	169433123	+	Silent	SNP	G	A	A	rs146108255		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169433123G>A	uc011cjx.1	+	2	679	c.468G>A	c.(466-468)ACG>ACA	p.T156T	PALLD_uc003iru.2_Silent_p.T156T	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)										Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613350	170613350	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170613350C>A	uc003isi.2	+	7	1324	c.815C>A	c.(814-816)GCT>GAT	p.A272D	CLCN3_uc003ish.2_Missense_Mutation_p.A272D|CLCN3_uc011cjz.1_Missense_Mutation_p.A255D|CLCN3_uc011cka.1_Missense_Mutation_p.A272D|CLCN3_uc003isj.1_Missense_Mutation_p.A245D	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	272	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)														---	---	---	---
C4orf27	54969	broad.mit.edu	37	4	170663209	170663209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170663209T>C	uc003isl.3	-	5	612	c.547A>G	c.(547-549)AAT>GAT	p.N183D		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	183						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)														---	---	---	---
AADAT	51166	broad.mit.edu	37	4	171010811	171010811	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:171010811T>C	uc003isr.2	-	1	373	c.31A>G	c.(31-33)AGC>GGC	p.S11G	AADAT_uc003iss.2_Missense_Mutation_p.S11G|AADAT_uc003ist.2_Missense_Mutation_p.S11G	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	11					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177071675	177071675	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177071675T>C	uc003iuj.2	+	17	2463	c.2307T>C	c.(2305-2307)GAT>GAC	p.D769D	WDR17_uc003iuk.2_Silent_p.D745D|WDR17_uc003ium.3_Silent_p.D745D|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'UTR	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	769										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098614	177098614	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177098614A>G	uc003iuj.2	+						WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Intron	NM_170710	NP_733828			WD repeat domain 17 isoform 1											ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183575044	183575044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183575044A>G	uc003ivd.1	+	5	1146	c.1109A>G	c.(1108-1110)AAT>AGT	p.N370S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	370	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183652077	183652077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183652077G>A	uc003ivd.1	+	15	2789	c.2752G>A	c.(2752-2754)GAA>AAA	p.E918K	ODZ3_uc003ive.1_Missense_Mutation_p.E324K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	918	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183659700	183659700	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183659700A>G	uc003ivd.1	+						ODZ3_uc003ive.1_Intron	NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
C4orf41	60684	broad.mit.edu	37	4	184585014	184585014	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184585014C>T	uc003ivx.2	+	2					C4orf41_uc003ivw.2_5'UTR|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761			hypothetical protein LOC60684 isoform a												0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185309962	185309962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185309962C>T	uc003iwf.3	-	9	1200	c.1000G>A	c.(1000-1002)GTC>ATC	p.V334I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	334					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185329430	185329430	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185329430C>T	uc003iwf.3	-	6	612	c.412_splice	c.e6-1	p.Q138_splice		NM_002199	NP_002190			interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185340707G>A	uc003iwf.3	-	3	303	c.103C>T	c.(103-105)CAG>TAG	p.Q35*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
CCDC111	201973	broad.mit.edu	37	4	185593326	185593326	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185593326G>T	uc003iwk.2	+	7	990	c.557_splice	c.e7-1	p.G186_splice	CCDC111_uc010isd.1_Splice_Site|CCDC111_uc003iwj.2_Splice_Site_p.G186_splice|CCDC111_uc003iwl.2_Splice_Site_p.G186_splice|CCDC111_uc003iwm.2_Splice_Site_p.G57_splice|CCDC111_uc003iwn.2_Splice_Site_p.G11_splice	NM_152683	NP_689896			coiled-coil domain containing 111						DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)														---	---	---	---
SLC25A4	291	broad.mit.edu	37	4	186065961	186065961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186065961A>G	uc003ixd.2	+	2	284	c.155A>G	c.(154-156)AAA>AGA	p.K52R	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	52	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)													---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186253808	186253808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186253808A>C	uc003ixh.2	+	10	1506	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	SNX25_uc010ish.2_Missense_Mutation_p.E210D|SNX25_uc003ixi.2_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	439	Potential.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186381022	186381022	+	Missense_Mutation	SNP	T	A	A	rs143728634		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186381022T>A	uc003ixu.3	-	6	795	c.719A>T	c.(718-720)GAC>GTC	p.D240V	CCDC110_uc003ixv.3_Missense_Mutation_p.D203V|CCDC110_uc011ckt.1_Missense_Mutation_p.D240V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	240						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186382236	186382236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186382236A>T	uc003ixu.3	-	5	391	c.315T>A	c.(313-315)AAT>AAA	p.N105K	CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.N105K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	105						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186533060	186533060	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186533060T>C	uc003iyl.2	-	18	3816	c.2958A>G	c.(2956-2958)CAA>CAG	p.Q986Q	SORBS2_uc003iyh.2_Silent_p.Q710Q|SORBS2_uc011ckw.1_Silent_p.Q547Q|SORBS2_uc003iyi.2_Silent_p.Q617Q|SORBS2_uc011ckx.1_Silent_p.Q552Q|SORBS2_uc003iyk.2_Silent_p.Q530Q|SORBS2_uc003iym.2_Silent_p.Q1086Q|SORBS2_uc003iyn.1_Silent_p.Q577Q|SORBS2_uc011cku.1_Silent_p.Q378Q|SORBS2_uc011ckv.1_Silent_p.Q890Q|SORBS2_uc003iyd.2_Silent_p.Q685Q|SORBS2_uc003iye.2_Silent_p.Q559Q|SORBS2_uc003iya.2_Silent_p.Q506Q|SORBS2_uc003iyb.2_Silent_p.Q459Q|SORBS2_uc003iyc.2_Silent_p.Q439Q|SORBS2_uc003iyg.2_Silent_p.Q1100Q|SORBS2_uc003iyf.2_Silent_p.Q522Q|SORBS2_uc003iyo.1_Silent_p.Q435Q	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	986	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544479	186544479	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186544479C>T	uc003iyl.2	-	13	2950	c.2092G>A	c.(2092-2094)GCT>ACT	p.A698T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A798T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A602T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A812T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	698						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187177156	187177156	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187177156A>C	uc003iyy.2	+	13	1571	c.1500A>C	c.(1498-1500)AAA>AAC	p.K500N	KLKB1_uc011clc.1_Missense_Mutation_p.K298N|KLKB1_uc011cld.1_Missense_Mutation_p.K462N	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	500	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)														---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187521118	187521118	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187521118C>T	uc003izf.2	-	22	12225	c.12037G>A	c.(12037-12039)GCC>ACC	p.A4013T	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4013	Extracellular (Potential).|EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187524831	187524831	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187524831T>C	uc003izf.2	-	19	11037	c.10849A>G	c.(10849-10851)ACA>GCA	p.T3617A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3617	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540078	187540078	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187540078A>C	uc003izf.2	-	10	7850	c.7662T>G	c.(7660-7662)CTT>CTG	p.L2554L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2554	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541346	187541346	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541346A>C	uc003izf.2	-	10	6582	c.6394T>G	c.(6394-6396)TTG>GTG	p.L2132V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2132	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549799	187549799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549799A>G	uc003izf.2	-	8	4630	c.4442T>C	c.(4441-4443)GTG>GCG	p.V1481A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1481	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549801	187549801	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187549801A>G	uc003izf.2	-	8	4628	c.4440T>C	c.(4438-4440)GCT>GCC	p.A1480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1480	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187627796	187627796	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187627796G>A	uc003izf.2	-	2	3374	c.3186C>T	c.(3184-3186)GAC>GAT	p.D1062D	FAT1_uc010iso.1_Silent_p.D1062D	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1062	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188923990	188923990	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:188923990A>G	uc003izg.1	+	3	274	c.29A>G	c.(28-30)AAG>AGG	p.K10R	ZFP42_uc003izh.1_Missense_Mutation_p.K10R|ZFP42_uc003izi.1_Missense_Mutation_p.K10R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	10					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)														---	---	---	---
TUBB4Q	56604	broad.mit.edu	37	4	190905503	190905503	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190905503G>A	uc011clg.1	-	3	184	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	169511	169511	+	Missense_Mutation	SNP	G	A	A	rs146749875		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169511G>A	uc003jak.2	+	12	2515	c.2465G>A	c.(2464-2466)CGG>CAG	p.R822Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)														---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	192330	192330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:192330C>T	uc003jal.1	+	1	705	c.677C>T	c.(676-678)GCG>GTG	p.A226V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	226										skin(1)	1																		---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	195116	195116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:195116A>T	uc003jal.1	+	2	1221	c.1193A>T	c.(1192-1194)AAC>ATC	p.N398I		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	398	LRR 5.									skin(1)	1																		---	---	---	---
CCDC127	133957	broad.mit.edu	37	5	205460	205460	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:205460G>A	uc003jam.1	-	3	835	c.735C>T	c.(733-735)GTC>GTT	p.V245V		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	245											0			all cancers(22;0.0236)|Lung(60;0.113)															---	---	---	---
SDHA	6389	broad.mit.edu	37	5	235410	235410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:235410G>A	uc003jao.3	+	9	1331	c.1216G>A	c.(1216-1218)GTG>ATG	p.V406M	SDHA_uc003jan.2_Missense_Mutation_p.V406M|SDHA_uc011clv.1_Missense_Mutation_p.V406M|SDHA_uc011clw.1_Missense_Mutation_p.V358M|SDHA_uc003jap.3_Missense_Mutation_p.V406M|SDHA_uc003jaq.3_Missense_Mutation_p.V181M|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	406					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
PDCD6	10016	broad.mit.edu	37	5	306755	306755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:306755A>G	uc003jat.1	+	4	347	c.247A>G	c.(247-249)AGC>GGC	p.S83G	AHRR_uc003jav.2_Intron|AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.S115G	NM_013232	NP_037364	O75340	PDCD6_HUMAN	programmed cell death 6	83	EF-hand 2.|2 (Potential).				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(1)	1			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)															---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	453871	453871	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:453871A>G	uc003jba.2	+	4	879	c.751A>G	c.(751-753)ATC>GTC	p.I251V		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	262					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640603	640603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:640603G>A	uc003jbf.2	+	9	1495	c.1423G>A	c.(1423-1425)GGC>AGC	p.G475S		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	475					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)															---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2748698	2748698	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2748698G>A	uc003jda.2	-	3	1366	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	IRX2_uc003jdb.2_Missense_Mutation_p.S375L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	375						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749541	2749541	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2749541G>T	uc003jda.2	-	2	852	c.610C>A	c.(610-612)CCC>ACC	p.P204T	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.P204T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)														---	---	---	---
C5orf38	153571	broad.mit.edu	37	5	2752744	2752744	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2752744T>C	uc003jdc.2	+	2	326	c.209T>C	c.(208-210)TTG>TCG	p.L70S	C5orf38_uc011cmg.1_Missense_Mutation_p.L70S|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	70						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)														---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3600783	3600783	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3600783C>T	uc003jde.2	+	3	1425	c.1373C>T	c.(1372-1374)CCG>CTG	p.P458L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463038	5463038	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463038T>C	uc003jdm.3	+	13	3813	c.3591T>C	c.(3589-3591)TCT>TCC	p.S1197S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1197										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5463287	5463287	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5463287A>T	uc003jdm.3	+	13	4062	c.3840A>T	c.(3838-3840)AAA>AAT	p.K1280N		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1280										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5464075	5464075	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5464075A>G	uc003jdm.3	+	13	4850	c.4628A>G	c.(4627-4629)AAC>AGC	p.N1543S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1543										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7773061	7773061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7773061G>A	uc003jdz.1	+	18	2298	c.2231G>A	c.(2230-2232)TGC>TAC	p.C744Y	ADCY2_uc011cmo.1_Missense_Mutation_p.C564Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	744	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9054308	9054308	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9054308T>C	uc003jek.2	-	19	3292	c.2580A>G	c.(2578-2580)GGA>GGG	p.G860G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	860	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154655	9154655	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154655G>A	uc003jek.2	-	12	2138	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	476	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154780	9154780	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9154780A>G	uc003jek.2	-	12	2013	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	434	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10407250	10407250	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10407250C>A	uc003jet.1	+	17	1672	c.1489C>A	c.(1489-1491)CTT>ATT	p.L497I	MARCH6_uc011cmu.1_Missense_Mutation_p.L449I|MARCH6_uc003jeu.1_Missense_Mutation_p.L195I|MARCH6_uc011cmv.1_Missense_Mutation_p.L392I	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	497	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10464976	10464976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10464976G>A	uc003jex.3	+	5	881	c.610G>A	c.(610-612)GGC>AGC	p.G204S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	204					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10992687	10992687	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10992687G>A	uc003jfa.1	-	19	3332	c.3187C>T	c.(3187-3189)CGC>TGC	p.R1063C	CTNND2_uc010itt.2_Missense_Mutation_p.R972C|CTNND2_uc011cmy.1_Missense_Mutation_p.R726C|CTNND2_uc011cmz.1_Missense_Mutation_p.R630C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R655C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411702	11411702	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11411702T>G	uc003jfa.1	-	5	530	c.385A>C	c.(385-387)AGG>CGG	p.R129R	CTNND2_uc010itt.2_Silent_p.R38R|CTNND2_uc011cmy.1_Silent_p.R38R|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	129					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735943	13735943	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13735943C>A	uc003jfd.2	-	67	11596	c.11554G>T	c.(11554-11556)GAC>TAC	p.D3852Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D20Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3852					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13759025	13759025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13759025T>C	uc003jfd.2	-	61	10391	c.10349A>G	c.(10348-10350)GAG>GGG	p.E3450G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3450	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13811930	13811930	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13811930A>C	uc003jfd.2	-	44	7275	c.7233T>G	c.(7231-7233)GGT>GGG	p.G2411G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2411	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13882935	13882935	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13882935A>G	uc003jfd.2	-							NM_001369	NP_001360			dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919401	13919401	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13919401G>A	uc003jfd.2	-	7	901	c.859C>T	c.(859-861)CTG>TTG	p.L287L	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	287	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14485290	14485290	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14485290G>T	uc003jff.2	+	47	6776	c.6770G>T	c.(6769-6771)AGT>ATT	p.S2257I	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1906I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2257	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14492761	14492761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14492761A>G	uc003jff.2	+	49	7724	c.7718A>G	c.(7717-7719)TAC>TGC	p.Y2573C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2573	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
FAM105B	90268	broad.mit.edu	37	5	14681660	14681660	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14681660G>A	uc003jfk.2	+	4	564	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	138										ovary(2)	2	Lung NSC(4;0.00696)																	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14871519	14871519	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14871519A>G	uc003jfm.3	-	1	369	c.38T>C	c.(37-39)CTG>CCG	p.L13P		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	13	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16672884	16672884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16672884C>T	uc003jft.3	-	37	5691	c.5223G>A	c.(5221-5223)ATG>ATA	p.M1741I	MYO10_uc011cnb.1_Missense_Mutation_p.M370I|MYO10_uc011cnc.1_Missense_Mutation_p.M620I|MYO10_uc011cnd.1_Missense_Mutation_p.M1098I|MYO10_uc011cne.1_Missense_Mutation_p.M1098I|MYO10_uc010itx.2_Missense_Mutation_p.M1363I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1741	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975268	21975268	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975268A>T	uc010iuc.2	-	3	916	c.458T>A	c.(457-459)ATT>AAT	p.I153N	CDH12_uc011cno.1_Missense_Mutation_p.I153N|CDH12_uc003jgk.2_Missense_Mutation_p.I153N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	153	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078547	22078547	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078547G>T	uc010iuc.2	-						CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron	NM_004061	NP_004052			cadherin 12, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23522467	23522467	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23522467G>C	uc003jgo.2	+	7	745	c.563G>C	c.(562-564)GGT>GCT	p.G188A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	188					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488088	24488088	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24488088T>A	uc003jgr.1	-	12	2383	c.2051A>T	c.(2050-2052)AAA>ATA	p.K684I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881477	26881477	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26881477T>C	uc003jgs.1	-	12	2307	c.2138A>G	c.(2137-2139)CAA>CGA	p.Q713R	CDH9_uc011cnv.1_Missense_Mutation_p.Q306R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	713	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886083	26886083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26886083T>C	uc003jgs.1	-	10	1791	c.1622A>G	c.(1621-1623)GAT>GGT	p.D541G	CDH9_uc011cnv.1_Missense_Mutation_p.D134G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	541	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26906938	26906938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26906938A>G	uc003jgs.1	-	4	702	c.533T>C	c.(532-534)GTT>GCT	p.V178A	CDH9_uc010iug.2_Missense_Mutation_p.V178A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305342	31305342	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31305342T>G	uc003jhe.1	+	7	1387	c.1061T>G	c.(1060-1062)GTT>GGT	p.V354G	CDH6_uc003jhd.1_Missense_Mutation_p.V354G	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	354	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7																		---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31526342	31526342	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31526342T>A	uc003jhg.2	-	4	1057	c.698A>T	c.(697-699)CAC>CTC	p.H233L	RNASEN_uc003jhh.2_Missense_Mutation_p.H233L|RNASEN_uc003jhi.2_Missense_Mutation_p.H233L|RNASEN_uc010iui.1_Missense_Mutation_p.H224L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	233	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983390	31983390	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983390C>A	uc003jhl.2	+	3	994	c.606C>A	c.(604-606)ACC>ACA	p.T202T	PDZD2_uc003jhm.2_Silent_p.T202T|PDZD2_uc011cnx.1_Silent_p.T28T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	202					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32355933	32355933	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32355933T>C	uc003jhr.1	-	20	3238	c.3158A>G	c.(3157-3159)GAT>GGT	p.D1053G	ZFR_uc010ium.1_Missense_Mutation_p.D184G|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32387778	32387778	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32387778T>C	uc003jhr.1	-	14	2456	c.2376A>G	c.(2374-2376)GGA>GGG	p.G792G	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	792	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
C5orf23	79614	broad.mit.edu	37	5	32789518	32789518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32789518C>T	uc003jhw.1	+	1	574	c.11C>T	c.(10-12)TCC>TTC	p.S4F		NM_024563	NP_078839			hypothetical protein LOC79614												0																		---	---	---	---
TARS	6897	broad.mit.edu	37	5	33455788	33455788	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33455788A>G	uc003jhy.2	+	6	967	c.672A>G	c.(670-672)GAA>GAG	p.E224E	TARS_uc011cob.1_Silent_p.E212E|TARS_uc010iup.1_Silent_p.E165E|TARS_uc011coc.1_Silent_p.E245E|TARS_uc003jhz.2_Silent_p.E120E|TARS_uc011cod.1_Silent_p.E103E	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	224					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
TARS	6897	broad.mit.edu	37	5	33457508	33457508	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33457508G>T	uc003jhy.2	+	9	1279	c.984G>T	c.(982-984)AGG>AGT	p.R328S	TARS_uc011cob.1_Missense_Mutation_p.R316S|TARS_uc010iup.1_Missense_Mutation_p.R269S|TARS_uc011coc.1_Missense_Mutation_p.R349S|TARS_uc003jhz.2_Missense_Mutation_p.R224S|TARS_uc011cod.1_Missense_Mutation_p.R207S	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	328					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)													---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938202	33938202	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938202G>A	uc003jic.1	+	1	1714	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	453	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33944918	33944918	+	Silent	SNP	G	A	A	rs139551409		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33944918G>A	uc003jid.2	-	7	1520	c.1428C>T	c.(1426-1428)TGC>TGT	p.C476C		NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	476	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34814723	34814723	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34814723G>A	uc003jir.2	+	12	1084	c.888G>A	c.(886-888)TCG>TCA	p.S296S	RAI14_uc010iur.2_Silent_p.S267S|RAI14_uc011coj.1_Silent_p.S296S|RAI14_uc010ius.1_Silent_p.S225S|RAI14_uc003jis.2_Silent_p.S299S|RAI14_uc003jit.2_Silent_p.S296S|RAI14_uc011cok.1_Silent_p.S288S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	296						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)																	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35806994	35806994	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35806994T>C	uc003jjo.2	+	35	5307	c.5196T>C	c.(5194-5196)AGT>AGC	p.S1732S	SPEF2_uc003jjp.1_Silent_p.S1218S|SPEF2_uc003jjr.2_Silent_p.S787S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35860990	35860990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35860990T>C	uc003jjs.2	+	2	208	c.119T>C	c.(118-120)TTC>TCC	p.F40S	IL7R_uc011coo.1_Missense_Mutation_p.F40S|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	40	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36153144	36153144	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36153144G>T	uc003jkc.1	+	2	462	c.280G>T	c.(280-282)GGT>TGT	p.G94C	SKP2_uc011cou.1_Translation_Start_Site|SKP2_uc003jkd.2_Missense_Mutation_p.G94C|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	94	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
SKP2	6502	broad.mit.edu	37	5	36182033	36182033	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36182033A>G	uc003jkc.1	+	10	1357	c.1175A>G	c.(1174-1176)CAT>CGT	p.H392R	SKP2_uc011cou.1_Missense_Mutation_p.H178R|SKP2_uc003jkd.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36961658	36961658	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36961658A>G	uc003jkl.3	+	5	930	c.431A>G	c.(430-432)CAA>CGA	p.Q144R	NIPBL_uc003jkk.3_Missense_Mutation_p.Q144R|NIPBL_uc003jkm.1_Missense_Mutation_p.Q23R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006447	37006447	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006447A>G	uc003jkl.3	+						NIPBL_uc003jkk.3_Intron	NM_133433	NP_597677			delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37006671	37006671	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37006671C>A	uc003jkl.3	+	17	4567	c.4068C>A	c.(4066-4068)TAC>TAA	p.Y1356*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.Y1356*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020717	37020717	+	Nonsense_Mutation	SNP	C	T	T	rs121918267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020717C>T	uc003jkl.3	+	26	5666	c.5167C>T	c.(5167-5169)CGA>TGA	p.R1723*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1723*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1723					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020965	37020965	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37020965A>T	uc003jkl.3	+	27	5813	c.5314A>T	c.(5314-5316)ATT>TTT	p.I1772F	NIPBL_uc003jkk.3_Missense_Mutation_p.I1772F	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1772	HEAT 1.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37187584	37187584	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37187584A>G	uc011cpa.1	-	23	4243	c.4012T>C	c.(4012-4014)TTT>CTT	p.F1338L	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F413L|C5orf42_uc011cpb.1_Missense_Mutation_p.F219L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1338										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37364478	37364478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37364478T>C	uc003jku.1	-	2	284	c.166A>G	c.(166-168)ACC>GCC	p.T56A	NUP155_uc003jkt.1_5'UTR|NUP155_uc010iuz.1_Missense_Mutation_p.T56A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37605339	37605339	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37605339C>A	uc003jkv.2	+	10	1149	c.1091C>A	c.(1090-1092)ACT>AAT	p.T364N	WDR70_uc010iva.1_Missense_Mutation_p.T364N	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	364	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38511961	38511961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38511961A>G	uc010ive.1	-	6	999	c.667T>C	c.(667-669)TAC>CAC	p.Y223H	LIFR_uc003jli.2_Missense_Mutation_p.Y223H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	223	Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)							T	PLAG1	salivary adenoma								---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38947539	38947539	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38947539T>C	uc003jlp.2	-	32	4165	c.4141A>G	c.(4141-4143)ATG>GTG	p.M1381V	RICTOR_uc003jlo.2_Missense_Mutation_p.M1405V|RICTOR_uc010ivf.2_Missense_Mutation_p.M1096V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1381					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38952456	38952456	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38952456C>G	uc003jlp.2	-	30	2993	c.2969G>C	c.(2968-2970)TGG>TCG	p.W990S	RICTOR_uc003jlo.2_Missense_Mutation_p.W990S|RICTOR_uc010ivf.2_Missense_Mutation_p.W705S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	990					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002671	39002671	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002671C>T	uc003jlp.2	-	5	382	c.358G>A	c.(358-360)GTG>ATG	p.V120M	RICTOR_uc003jlo.2_Missense_Mutation_p.V120M|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.V104M|RICTOR_uc011cpk.1_Missense_Mutation_p.V120M	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	39002727	39002727	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39002727G>A	uc003jlp.2	-	5	326	c.302C>T	c.(301-303)GCA>GTA	p.A101V	RICTOR_uc003jlo.2_Missense_Mutation_p.A101V|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.A85V|RICTOR_uc011cpk.1_Missense_Mutation_p.A101V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
C9	735	broad.mit.edu	37	5	39285290	39285290	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39285290A>G	uc003jlv.3	-	11						NM_001737	NP_001728			complement component 9 precursor						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
C9	735	broad.mit.edu	37	5	39311418	39311418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39311418C>T	uc003jlv.3	-	7	1021	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39376984	39376984	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39376984A>C	uc003jlx.2	-	12	2436	c.1905T>G	c.(1903-1905)GAT>GAG	p.D635E	DAB2_uc003jlw.2_Missense_Mutation_p.D614E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	635					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)													OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39382948	39382948	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39382948G>T	uc003jlx.2	-	10	1644	c.1113C>A	c.(1111-1113)ACC>ACA	p.T371T	DAB2_uc003jlw.2_Silent_p.T350T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	371					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39390565	39390565	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39390565G>A	uc003jlx.2	-	5	974	c.443C>T	c.(442-444)GCC>GTC	p.A148V	DAB2_uc003jlw.2_Missense_Mutation_p.A148V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	148	PID.			A -> T (in Ref. 2; AAA98975).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39392490	39392490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39392490T>C	uc003jlx.2	-	4	838	c.307A>G	c.(307-309)AAA>GAA	p.K103E	DAB2_uc003jlw.2_Missense_Mutation_p.K103E	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	103	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40691943	40691943	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40691943A>G	uc003jlz.2	+	3	1522	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	310	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2																		---	---	---	---
PTGER4	5734	broad.mit.edu	37	5	40692107	40692107	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40692107A>G	uc003jlz.2	+	3	1686	c.1094A>G	c.(1093-1095)GAC>GGC	p.D365G		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.D365D(1)		lung(2)	2																		---	---	---	---
PRKAA1	5562	broad.mit.edu	37	5	40777625	40777625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40777625C>T	uc003jmc.2	-	2	197	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	PRKAA1_uc003jmb.2_Missense_Mutation_p.R64Q	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	64	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)													---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853695	40853695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40853695G>A	uc003jmg.2	+	3	2336	c.2261G>A	c.(2260-2262)GGC>GAC	p.G754D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	754					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
C7	730	broad.mit.edu	37	5	40955575	40955575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40955575G>A	uc003jmh.2	+	10	1294	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41018434	41018434	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018434A>G	uc003jmj.3	-						HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760			HEAT repeat family member 7B2								binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41842866	41842866	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41842866A>T	uc003jmn.2	-	6	913	c.582T>A	c.(580-582)GGT>GGA	p.G194G		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	194					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850186	41850186	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41850248	41850248	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41850248C>T	uc003jmn.2	-	5	779	c.448G>A	c.(448-450)GCT>ACT	p.A150T		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	150					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41934226	41934226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41934226T>C	uc003jmq.2	+						FBXO4_uc003jmp.2_Intron|FBXO4_uc003jmr.2_Intron	NM_012176	NP_036308			F-box only protein 4 isoform 1						positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)																---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43527569	43527569	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43527569T>C	uc003job.2	-	11	1596	c.1349A>G	c.(1348-1350)TAC>TGC	p.Y450C	PAIP1_uc003joa.2_Missense_Mutation_p.Y371C|PAIP1_uc010ivp.2_Missense_Mutation_p.T340A|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Y338C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	450	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43556088	43556088	+	Silent	SNP	G	A	A	rs144446267		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43556088G>A	uc003job.2	-	2	526	c.279C>T	c.(277-279)CCC>CCT	p.P93P	PAIP1_uc003joa.2_Silent_p.P14P|PAIP1_uc010ivp.2_Silent_p.P14P|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_5'UTR	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	93	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43616140	43616140	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43616140C>A	uc003joe.2	+	4	827	c.572C>A	c.(571-573)GCG>GAG	p.A191E	NNT_uc003jof.2_Missense_Mutation_p.A191E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	191	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
NNT	23530	broad.mit.edu	37	5	43624143	43624143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43624143G>A	uc003joe.2	+	6	952	c.697G>A	c.(697-699)GTT>ATT	p.V233I	NNT_uc003jof.2_Missense_Mutation_p.V233I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	233	Mitochondrial matrix.|NAD (By similarity).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809273	44809273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:44809273T>C	uc003joh.2	+	1	247	c.209T>C	c.(208-210)GTG>GCG	p.V70A	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	70					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)																	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262884	45262884	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262884C>T	uc003jok.2	-	8	1837	c.1812G>A	c.(1810-1812)AAG>AAA	p.K604K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	604	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45695850	45695850	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45695850T>A	uc003jok.2	-	1	371	c.346A>T	c.(346-348)AGC>TGC	p.S116C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	116	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50130758	50130758	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50130758T>G	uc003jon.3	+						PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Intron|PARP8_uc003jop.2_Intron	NM_024615	NP_078891			poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52157298	52157298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52157298C>T	uc003jou.2	+	3	252	c.200C>T	c.(199-201)CCG>CTG	p.P67L	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	67	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52221106	52221106	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52221106A>G	uc003jou.2	+	19	2456	c.2404_splice	c.e19-2	p.I802_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.I333_splice	NM_181501	NP_852478			integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52344509	52344509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52344509A>G	uc003joy.2	+	6	682	c.539A>G	c.(538-540)GAT>GGT	p.D180G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.D104G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	180	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52353888	52353888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52353888A>G	uc003joy.2	+	10	1273	c.1130A>G	c.(1129-1131)GAA>GGA	p.E377G	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E301G|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	377	Extracellular (Potential).|FG-GAP 3.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52367773	52367773	+	Silent	SNP	C	A	A	rs41366951	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52367773C>A	uc003joy.2	+	18	2384	c.2241C>A	c.(2239-2241)CCC>CCA	p.P747P	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.P671P|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	747	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52780953	52780953	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52780953T>A	uc003jpd.2	+	5	875	c.848T>A	c.(847-849)GTC>GAC	p.V283D	FST_uc003jpc.2_Missense_Mutation_p.V283D	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	283	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
FST	10468	broad.mit.edu	37	5	52781060	52781060	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52781060A>G	uc003jpd.2	+						FST_uc003jpc.2_Intron	NM_013409	NP_037541			follistatin isoform FST344 precursor						hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54603965	54603965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54603965G>A	uc003jpy.3	+	1	390	c.124G>A	c.(124-126)GAC>AAC	p.D42N	SKIV2L2_uc011cqi.1_Missense_Mutation_p.R9K|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	42					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54696086	54696086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54696086G>A	uc003jpy.3	+	21	2584	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	SKIV2L2_uc011cqi.1_Missense_Mutation_p.G672D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	773					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168208	55168208	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168208T>A	uc003jql.2	+	4	448	c.383T>A	c.(382-384)ATT>AAT	p.I128N	IL31RA_uc003jqk.2_Missense_Mutation_p.I128N|IL31RA_uc011cqj.1_Translation_Start_Site|IL31RA_uc003jqm.2_Missense_Mutation_p.I96N|IL31RA_uc003jqn.2_Missense_Mutation_p.I128N|IL31RA_uc010iwa.1_Missense_Mutation_p.I96N|IL31RA_uc003jqo.2_Translation_Start_Site	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	96	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168291	55168291	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168291T>C	uc003jql.2	+						IL31RA_uc003jqk.2_Intron|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc010iwa.1_Intron|IL31RA_uc003jqo.2_Intron	NM_139017	NP_620586			gp130-like monocyte receptor						anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55237466	55237466	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55237466A>G	uc003jqq.2	-	17	2456	c.2201T>C	c.(2200-2202)ATG>ACG	p.M734T	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.M673T|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.M53T|IL6ST_uc011cqk.1_Missense_Mutation_p.M445T|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	734	Cytoplasmic (Potential).|Ser-rich.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						O		hepatocellular ca								---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55407092	55407092	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55407092T>C	uc003jqu.2	-	10	1635	c.1483A>G	c.(1483-1485)AAG>GAG	p.K495E	ANKRD55_uc003jqt.2_Missense_Mutation_p.K207E	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	494										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)																---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56219147	56219147	+	Silent	SNP	G	T	T	rs141090261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56219147G>T	uc003jrd.1	-	13	1486	c.1461C>A	c.(1459-1461)GCC>GCA	p.A487A	MIER3_uc003jqz.1_Silent_p.A424A|MIER3_uc003jra.1_Silent_p.A486A|MIER3_uc003jrb.1_Silent_p.A311A|MIER3_uc003jrc.1_Silent_p.A492A	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
MIER3	166968	broad.mit.edu	37	5	56231255	56231255	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56231255C>T	uc003jrd.1	-	7	620	c.595G>A	c.(595-597)GTA>ATA	p.V199I	MIER3_uc003jqz.1_Missense_Mutation_p.V136I|MIER3_uc003jra.1_Missense_Mutation_p.V199I|MIER3_uc003jrb.1_Missense_Mutation_p.V23I|MIER3_uc003jrc.1_Missense_Mutation_p.V204I	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	199	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)														---	---	---	---
PLK2	10769	broad.mit.edu	37	5	57751521	57751521	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:57751521A>G	uc003jrn.2	-	11	1597	c.1470T>C	c.(1468-1470)GAT>GAC	p.D490D		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	490					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)														---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59943345	59943345	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:59943345T>C	uc003jsh.2	-	3	403	c.330A>G	c.(328-330)TCA>TCG	p.S110S	DEPDC1B_uc011cqm.1_Silent_p.S110S|DEPDC1B_uc011cqn.1_Silent_p.S83S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)																---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60195478	60195478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:60195478T>C	uc003jsm.3	-	8	764	c.694A>G	c.(694-696)AAA>GAA	p.K232E	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.K174E|ERCC8_uc011cqp.1_Missense_Mutation_p.K79E	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	232					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)											Direct_reversal_of_damage|NER					---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256873	63256873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256873C>T	uc011cqt.1	-	1	674	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	225	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256991	63256991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256991C>T	uc011cqt.1	-	1	556	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	186	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
CENPK	64105	broad.mit.edu	37	5	64850721	64850721	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64850721T>C	uc003jts.2	-	3	226	c.14A>G	c.(13-15)GAT>GGT	p.D5G	CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Missense_Mutation_p.D5G	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	5					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)														---	---	---	---
PPWD1	23398	broad.mit.edu	37	5	64867672	64867672	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64867672T>C	uc003jtv.3	+	5	535	c.528T>C	c.(526-528)TTT>TTC	p.F176F	PPWD1_uc011cqv.1_Silent_p.F146F|PPWD1_uc011cqw.1_Silent_p.F20F	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	176					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)														---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64900754	64900754	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64900754G>T	uc003jty.2	-	7	1249	c.1163C>A	c.(1162-1164)CCT>CAT	p.P388H	TRIM23_uc003jtw.2_Missense_Mutation_p.P388H|TRIM23_uc003jtx.2_Missense_Mutation_p.P388H	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	388					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)														---	---	---	---
NLN	57486	broad.mit.edu	37	5	65077166	65077166	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65077166A>G	uc003juf.2	+	6	856	c.740A>G	c.(739-741)CAC>CGC	p.H247R	NLN_uc003jue.2_Missense_Mutation_p.H247R|NLN_uc003jug.2_Missense_Mutation_p.H76R	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	247					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)														---	---	---	---
SFRS12	140890	broad.mit.edu	37	5	65466667	65466667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65466667G>A	uc003juo.2	+	10	1688	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	SFRS12_uc003jun.2_Missense_Mutation_p.R459Q|SFRS12_uc010iwy.2_Missense_Mutation_p.R343Q	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	343	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)														---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66459236	66459236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66459236C>T	uc003jut.1	+	28	3730	c.3662C>T	c.(3661-3663)GCG>GTG	p.A1221V	MAST4_uc003juw.2_Missense_Mutation_p.A1149V|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1413						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67584567	67584567	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67584567C>T	uc003jva.2	+						PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Missense_Mutation_p.H2Y|PIK3R1_uc003jvd.2_5'Flank|PIK3R1_uc003jve.2_5'Flank	NM_181523	NP_852664			phosphoinositide-3-kinase, regulatory subunit 1						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67593317	67593317	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:67593317A>G	uc003jva.2	+	16	2623	c.2063A>G	c.(2062-2064)TAC>TGC	p.Y688C	PIK3R1_uc003jvb.2_Missense_Mutation_p.Y688C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y388C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y418C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y367C	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	688	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70782320	70782320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70782320G>A	uc003kbp.1	+	9	1342	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	BDP1_uc003kbn.1_Missense_Mutation_p.R360H|BDP1_uc003kbo.2_Missense_Mutation_p.R360H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	360	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70809109	70809109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70809109G>A	uc003kbp.1	+	19	4608	c.4345G>A	c.(4345-4347)GCT>ACT	p.A1449T	BDP1_uc003kbo.2_Missense_Mutation_p.A1449T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1449					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70818630	70818630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70818630T>C	uc003kbp.1	+	24	5504	c.5241T>C	c.(5239-5241)GAT>GAC	p.D1747D	BDP1_uc003kbo.2_Silent_p.D1747D|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1747					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495096	71495096	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71495096T>C	uc003kbw.3	+	5	6155	c.5914T>C	c.(5914-5916)TAC>CAC	p.Y1972H	MAP1B_uc010iyw.1_Missense_Mutation_p.Y1989H|MAP1B_uc010iyx.1_Missense_Mutation_p.Y1846H|MAP1B_uc010iyy.1_Missense_Mutation_p.Y1846H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1972	MAP1B 6.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)														---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71756528	71756528	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71756528A>T	uc003kce.1	-	2	982	c.796T>A	c.(796-798)TAC>AAC	p.Y266N		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	266	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72173107	72173107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72173107G>A	uc003kck.3	+	9	1001	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.C235Y|TNPO1_uc003kch.2_Missense_Mutation_p.C277Y|TNPO1_uc003kci.3_Missense_Mutation_p.C277Y|TNPO1_uc003kcg.3_Missense_Mutation_p.C277Y	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	285					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72183988	72183988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72183988C>T	uc003kck.3	+	13	1534	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C	TNPO1_uc011csj.1_Missense_Mutation_p.R413C|TNPO1_uc003kch.2_Missense_Mutation_p.R455C|TNPO1_uc003kci.3_Missense_Mutation_p.R455C|TNPO1_uc003kcg.3_Missense_Mutation_p.R455C	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	463	HEAT 5.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72864245	72864245	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72864245A>T	uc003kcw.1	+	4	407	c.184A>T	c.(184-186)ATT>TTT	p.I62F	UTP15_uc011cso.1_Missense_Mutation_p.I43F|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.I62F|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	62	WD 1.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72873772	72873772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72873772G>T	uc003kcw.1	+	9	1209	c.986G>T	c.(985-987)AGA>ATA	p.R329I	UTP15_uc011cso.1_Missense_Mutation_p.R310I|UTP15_uc011csp.1_Missense_Mutation_p.R139I|UTP15_uc010ize.1_Missense_Mutation_p.R329I	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	329					rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---
RGNEF	64283	broad.mit.edu	37	5	73165890	73165890	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73165890T>G	uc011csq.1	+						RGNEF_uc003kcx.2_Intron|RGNEF_uc010izf.2_Intron|RGNEF_uc011csr.1_Intron	NM_001080479	NP_001073948			Rho-guanine nucleotide exchange factor						cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)														---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74014111	74014111	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74014111A>G	uc003kdf.3	+						HEXB_uc003kdd.2_Intron|HEXB_uc010izh.2_Intron|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512			hexosaminidase B preproprotein						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)														---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74646159	74646159	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74646159A>T	uc003kdp.2	+	8	896	c.740A>T	c.(739-741)AAT>ATT	p.N247I	HMGCR_uc011cst.1_Missense_Mutation_p.N267I|HMGCR_uc003kdq.2_Missense_Mutation_p.N247I|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	247					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74650443	74650443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74650443G>A	uc003kdp.2	+	12	1640	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H	HMGCR_uc011cst.1_Missense_Mutation_p.R515H|HMGCR_uc003kdq.2_Missense_Mutation_p.R495H	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	495	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75950035	75950035	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75950035G>T	uc003kek.2	+	19	2411	c.2189G>T	c.(2188-2190)TGG>TTG	p.W730L	IQGAP2_uc010izv.2_Missense_Mutation_p.W283L|IQGAP2_uc011csv.1_Missense_Mutation_p.W226L|IQGAP2_uc003kel.2_Missense_Mutation_p.W226L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	730	IQ 2.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75954306	75954306	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75954306A>G	uc003kek.2	+	21	2565	c.2343A>G	c.(2341-2343)TTA>TTG	p.L781L	IQGAP2_uc010izv.2_Silent_p.L334L|IQGAP2_uc011csv.1_Silent_p.L277L|IQGAP2_uc003kel.2_Silent_p.L277L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	781					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75991429	75991429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75991429G>A	uc003kek.2	+	32	4366	c.4144G>A	c.(4144-4146)GAA>AAA	p.E1382K	IQGAP2_uc011csv.1_Missense_Mutation_p.E878K|IQGAP2_uc003kel.2_Missense_Mutation_p.E878K|IQGAP2_uc010izw.1_Missense_Mutation_p.E83K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1382					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
F2R	2149	broad.mit.edu	37	5	76029054	76029054	+	Missense_Mutation	SNP	C	T	T	rs17849599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76029054C>T	uc003ken.3	+	2	1269	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	335	Extracellular (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)													---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77316593	77316593	+	Missense_Mutation	SNP	T	G	G	rs139968311	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:77316593T>G	uc003kfj.2	-	25	3040	c.2915A>C	c.(2914-2916)AAT>ACT	p.N972T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	972					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										Hermansky-Pudlak_syndrome				---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78324268	78324268	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78324268T>A	uc003kfs.2	-	12	2026	c.2020A>T	c.(2020-2022)ATA>TTA	p.I674L	DMGDH_uc011cte.1_Missense_Mutation_p.I524L|DMGDH_uc011ctf.1_Missense_Mutation_p.I473L|DMGDH_uc011ctg.1_Missense_Mutation_p.I294L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	674					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78375267	78375267	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78375267A>T	uc003kft.2	+	3	265	c.242A>T	c.(241-243)GAC>GTC	p.D81V	BHMT2_uc011cth.1_Missense_Mutation_p.D81V	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	81	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78376559	78376559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78376559G>A	uc003kft.2	+	4	331	c.308G>A	c.(307-309)GGC>GAC	p.G103D	BHMT2_uc011cth.1_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	103	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025398G>A	uc003kgc.2	+	2	882	c.810G>A	c.(808-810)GAG>GAA	p.E270E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79025453	79025453	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025453G>A	uc003kgc.2	+	2	937	c.865G>A	c.(865-867)GCC>ACC	p.A289T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	289						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79030209	79030209	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79030209C>A	uc003kgc.2	+	2	5693	c.5621C>A	c.(5620-5622)CCT>CAT	p.P1874H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1874						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79031080	79031080	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79031080G>T	uc003kgc.2	+	2	6564	c.6492G>T	c.(6490-6492)CCG>CCT	p.P2164P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79032520	79032520	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79032520T>C	uc003kgc.2	+	2	8004	c.7932T>C	c.(7930-7932)GAT>GAC	p.D2644D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2644						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79084905	79084905	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79084905A>G	uc003kgc.2	+	10	11739	c.11667A>G	c.(11665-11667)GAA>GAG	p.E3889E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3889	Fibronectin type-III 2.|B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80381689	80381689	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80381689A>G	uc003kha.1	+	8	1230	c.1230A>G	c.(1228-1230)AAA>AAG	p.K410K	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.K238K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80521507	80521507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80521507A>G	uc003kha.1	+	27	3632	c.3632A>G	c.(3631-3633)TAC>TGC	p.Y1211C	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1211	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80559317	80559317	+	Missense_Mutation	SNP	G	A	A	rs148114477		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80559317G>A	uc003khc.3	+	10	1264	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R341H|CKMT2_uc003khd.3_Missense_Mutation_p.R341H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	341	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)													---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80626717	80626717	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80626717C>T	uc003khl.3	-	14	1489	c.1434G>A	c.(1432-1434)TCG>TCA	p.S478S	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	478	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81460363	81460363	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81460363A>G	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81474333	81474333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81474333A>G	uc003khs.2	+	6	809	c.380A>G	c.(379-381)GAC>GGC	p.D127G	ATG10_uc003khr.2_Missense_Mutation_p.D127G|ATG10_uc010jas.2_Missense_Mutation_p.D91G	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN	APG10 autophagy 10-like	127					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81548488	81548488	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81548488A>T	uc003khs.2	+						ATG10_uc003khr.2_Intron|ATG10_uc010jas.2_Intron	NM_001131028	NP_001124500			APG10 autophagy 10-like						autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)														---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82400807	82400807	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82400807T>C	uc003kib.2	+	2	197	c.69T>C	c.(67-69)TCT>TCC	p.S23S	XRCC4_uc003kia.1_Silent_p.S23S|XRCC4_uc003kid.2_Silent_p.S23S|XRCC4_uc003kic.2_Silent_p.S23S|XRCC4_uc003kie.2_Silent_p.S23S|XRCC4_uc003kif.1_Silent_p.S23S	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	23					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82491701	82491701	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82491701A>G	uc003kib.2	+	4	556	c.428A>G	c.(427-429)CAC>CGC	p.H143R	XRCC4_uc003kia.1_Missense_Mutation_p.H143R|XRCC4_uc003kid.2_Missense_Mutation_p.H143R|XRCC4_uc003kic.2_Missense_Mutation_p.H143R|XRCC4_uc003kie.2_Missense_Mutation_p.H143R|XRCC4_uc003kif.1_Missense_Mutation_p.H143R	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	143	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)									NHEJ					---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82779373	82779373	+	Nonsense_Mutation	SNP	T	A	A	rs113090098		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82779373T>A	uc003kii.3	+	2	392	c.36T>A	c.(34-36)TGT>TGA	p.C12*	VCAN_uc003kij.3_Nonsense_Mutation_p.C12*|VCAN_uc010jau.2_Nonsense_Mutation_p.C12*|VCAN_uc003kik.3_Nonsense_Mutation_p.C12*|VCAN_uc003kih.3_Nonsense_Mutation_p.C12*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	12					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815597	82815597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82815597A>G	uc003kii.3	+	7	1828	c.1472A>G	c.(1471-1473)GAA>GGA	p.E491G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E491G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	491	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86659208	86659208	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86659208T>C	uc003kiw.2	+	11	1615	c.1497T>C	c.(1495-1497)GGT>GGC	p.G499G	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.G322G|RASA1_uc011ctv.1_Silent_p.G332G|RASA1_uc011ctw.1_Silent_p.G333G|RASA1_uc010jaw.2_Silent_p.G321G	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	499	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87494828	87494828	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87494828C>T	uc003kjc.2	-	10	1179	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	TMEM161B_uc011cty.1_Missense_Mutation_p.A341T|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A143T	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87564551	87564551	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87564551A>G	uc003kjc.2	-	1					TMEM161B_uc011cty.1_5'UTR|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_5'UTR|uc003kjd.2_5'Flank|uc003kje.2_5'Flank	NM_153354	NP_699185			transmembrane protein 161B							integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88027692	88027692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:88027692A>G	uc003kjj.2	-	7	1337	c.664T>C	c.(664-666)TCA>CCA	p.S222P	MEF2C_uc003kji.2_Missense_Mutation_p.S222P|MEF2C_uc003kjk.2_Missense_Mutation_p.S222P|MEF2C_uc003kjm.2_Missense_Mutation_p.S220P|MEF2C_uc003kjl.2_Missense_Mutation_p.S240P	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	222					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)											HNSCC(66;0.2)			---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89923354	89923354	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89923354T>C	uc003kju.2	+	7	1095	c.999T>C	c.(997-999)TTT>TTC	p.F333F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	333	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89940532	89940532	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89940532A>G	uc003kju.2	+	15	2840	c.2744A>G	c.(2743-2745)GAT>GGT	p.D915G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	915	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052421	90052421	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90052421G>T	uc003kju.2	+	56	11827	c.11731G>T	c.(11731-11733)GGA>TGA	p.G3911*	GPR98_uc003kjt.2_Nonsense_Mutation_p.G1617*|GPR98_uc003kjv.2_Nonsense_Mutation_p.G1511*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3911	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
NR2F1	7025	broad.mit.edu	37	5	92923678	92923678	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:92923678C>T	uc003kkj.2	+	2	2206	c.519C>T	c.(517-519)CTC>CTT	p.L173L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	173					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)														---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94030751	94030751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94030751G>A	uc003kkr.3	+	21	2991	c.2911G>A	c.(2911-2913)GAT>AAT	p.D971N	ANKRD32_uc003kks.2_Missense_Mutation_p.D335N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	971										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)														---	---	---	---
FAM81B	153643	broad.mit.edu	37	5	94731831	94731831	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94731831C>T	uc003kla.1	+	3	291	c.245C>T	c.(244-246)GCC>GTC	p.A82V	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	82										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)														---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94826671	94826671	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94826671T>C	uc003klb.2	-	37	4142	c.3872A>G	c.(3871-3873)AAC>AGC	p.N1291S		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1291							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94849321	94849321	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94849321T>A	uc003klb.2	-	27	3002	c.2732A>T	c.(2731-2733)TAT>TTT	p.Y911F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94857846	94857846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94857846T>C	uc003klb.2	-	19	2193	c.1923A>G	c.(1921-1923)ATA>ATG	p.I641M	TTC37_uc010jbf.1_Missense_Mutation_p.I593M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	641	TPR 11.						binding			ovary(3)|pancreas(1)	4																		---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94858903	94858903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94858903T>C	uc003klb.2	-						TTC37_uc010jbf.1_Intron	NM_014639	NP_055454			tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4																		---	---	---	---
SPATA9	83890	broad.mit.edu	37	5	94994504	94994504	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94994504A>C	uc003klj.1	-	5	744	c.588T>G	c.(586-588)CCT>CCG	p.P196P	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	196					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)														---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95249552	95249552	+	Missense_Mutation	SNP	C	T	T	rs146144447		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95249552C>T	uc003klr.3	-	4	754	c.404G>A	c.(403-405)CGA>CAA	p.R135Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	135					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)														---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746500	95746500	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95746500C>T	uc003kls.1	-	8	1279	c.1073G>A	c.(1072-1074)GGA>GAA	p.G358E	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	358	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96139196	96139196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96139196T>C	uc003kmm.2	-	2	781	c.434A>G	c.(433-435)TAC>TGC	p.Y145C	ERAP1_uc003kml.2_Missense_Mutation_p.Y145C|ERAP1_uc010jbm.1_Intron|ERAP1_uc003kmn.2_Missense_Mutation_p.Y145C	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	145	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)														---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96251474	96251474	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96251474G>A	uc003kmq.2	+	18	3449	c.2739_splice	c.e18+1	p.E913_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.E913_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.E862_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745			endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98129124	98129124	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98129124C>T	uc003knc.2	+	5	1506	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	327					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)														---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98194704	98194704	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98194704T>C	uc003knf.2	-	33	4688	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	CHD1_uc010jbn.2_Missense_Mutation_p.N240D	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1514					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)													---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101606335	101606335	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101606335G>A	uc003knm.2	-	3	1082	c.795C>T	c.(793-795)CTC>CTT	p.L265L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	265	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101627089	101627089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101627089G>A	uc003knm.2	-	2	864	c.577C>T	c.(577-579)CAA>TAA	p.Q193*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	193	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101774410	101774410	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101774410T>C	uc003knn.2	-	7	1359	c.1187A>G	c.(1186-1188)TAT>TGT	p.Y396C	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y396C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y334C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	396	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102509634	102509634	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102509634A>G	uc003kod.3	+	21	3006	c.2487A>G	c.(2485-2487)GTA>GTG	p.V829V	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.V829V|PPIP5K2_uc003kof.2_Silent_p.V130V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	829					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2																		---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102890429	102890429	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102890429G>C	uc003koi.2	-						NUDT12_uc011cvb.1_Intron	NM_031438	NP_113626			nudix-type motif 12							nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)														---	---	---	---
EFNA5	1946	broad.mit.edu	37	5	106763092	106763092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:106763092C>T	uc003kol.2	-	2	526	c.244G>A	c.(244-246)GTG>ATG	p.V82M	EFNA5_uc010jbr.1_Missense_Mutation_p.V82M	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	82					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108290576	108290576	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108290576T>C	uc003kop.1	+	12	1860	c.1476T>C	c.(1474-1476)TAT>TAC	p.Y492Y	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Silent_p.Y317Y	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	492	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108523190	108523190	+	Missense_Mutation	SNP	A	G	G	rs149517787		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108523190A>G	uc003kop.1	+	20	2767	c.2383A>G	c.(2383-2385)AAG>GAG	p.K795E	FER_uc011cvg.1_Missense_Mutation_p.K620E	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	795	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108698724	108698724	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108698724C>A	uc003kos.3	-	6	1690	c.1470_splice	c.e6-1	p.G490_splice		NM_014819	NP_055634			praja 2, RING-H2 motif containing						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108717314	108717314	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108717314G>T	uc003kos.3	-	3	342	c.122C>A	c.(121-123)GCT>GAT	p.A41D		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	41					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109049437	109049437	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109049437T>C	uc003kou.1	+	2	1315	c.352T>C	c.(352-354)TTT>CTT	p.F118L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	118	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)														---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110428101	110428101	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110428101G>T	uc003kpd.2	+	1	232	c.115G>T	c.(115-117)GGT>TGT	p.G39C	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	39					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110712562	110712562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110712562A>G	uc011cvj.1	+	5	407	c.308A>G	c.(307-309)AAA>AGA	p.K103R	CAMK4_uc003kpf.2_Missense_Mutation_p.K103R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	103	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110730432	110730432	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110730432T>C	uc011cvj.1	+	6	510	c.411T>C	c.(409-411)AGT>AGC	p.S137S	CAMK4_uc003kpf.2_Silent_p.S137S|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	137	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111500719	111500719	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111500719T>C	uc003kpv.1	-	23	2303	c.2029A>G	c.(2029-2031)ATA>GTA	p.I677V	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	677						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111594953	111594953	+	Missense_Mutation	SNP	T	A	A	rs34755755	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:111594953T>A	uc003kpv.1	-	9	1042	c.768A>T	c.(766-768)CAA>CAT	p.Q256H		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	256	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)														---	---	---	---
APC	324	broad.mit.edu	37	5	112178940	112178940	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112178940A>T	uc010jby.2	+	16	8029	c.7649A>T	c.(7648-7650)GAG>GTG	p.E2550V	APC_uc011cvt.1_Missense_Mutation_p.E2532V|APC_uc003kpz.3_Missense_Mutation_p.E2550V|APC_uc003kpy.3_Missense_Mutation_p.E2550V|APC_uc010jbz.2_Missense_Mutation_p.E2267V|APC_uc010jca.2_Missense_Mutation_p.E1850V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2550	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112200164	112200164	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112200164A>G	uc003kqc.2	+	3	209	c.128A>G	c.(127-129)AAT>AGT	p.N43S	SRP19_uc003kqb.1_Missense_Mutation_p.N43S|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	43					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)														---	---	---	---
MCC	4163	broad.mit.edu	37	5	112406914	112406914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112406914T>C	uc003kqj.3	-	10	1762	c.1232A>G	c.(1231-1233)AAA>AGA	p.K411R	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.K601R|MCC_uc011cwb.1_Missense_Mutation_p.K411R|MCC_uc010jcd.1_Missense_Mutation_p.K373R	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	411					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)														---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822881	113822881	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:113822881A>T	uc003kqo.2	+						KCNN2_uc003kqp.2_Intron|KCNN2_uc010jcg.2_Intron|uc003kqr.1_Intron	NM_021614	NP_067627			small conductance calcium-activated potassium							integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)														---	---	---	---
PGGT1B	5229	broad.mit.edu	37	5	114548274	114548274	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114548274A>G	uc003kqw.3	-	9	980	c.959T>C	c.(958-960)TTG>TCG	p.L320S	PGGT1B_uc003kqx.3_Missense_Mutation_p.L197S|PGGT1B_uc010jch.2_Missense_Mutation_p.L243S	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	320	PFTB 4.				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)													---	---	---	---
CCDC112	153733	broad.mit.edu	37	5	114610906	114610906	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114610906T>A	uc003kqy.2	-						CCDC112_uc003kqz.2_Intron|CCDC112_uc003kra.2_Intron	NM_152549	NP_689762			coiled-coil domain containing 112 isoform 2												0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)														---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115298718	115298718	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115298718T>A	uc003kro.2	+	1	568	c.404T>A	c.(403-405)GTG>GAG	p.V135E	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	135	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782800	115782800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115782800C>T	uc010jck.2	-	19	3311	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	SEMA6A_uc003krx.3_Missense_Mutation_p.V885M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V247M|SEMA6A_uc003krv.3_Missense_Mutation_p.V295M|SEMA6A_uc003krw.3_Missense_Mutation_p.V345M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V412M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	868	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115824575	115824575	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115824575T>C	uc010jck.2	-						SEMA6A_uc003krx.3_Intron	NM_020796	NP_065847			sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118176600	118176600	+	3'UTR	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118176600A>C	uc003ksa.2	-	6						NM_173666	NP_775937			DTW domain containing 2												0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)														---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118513830	118513830	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118513830G>A	uc003ksd.2	+	28	7207	c.7026G>A	c.(7024-7026)GAG>GAA	p.E2342E	DMXL1_uc010jcl.1_Silent_p.E2342E	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2342										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970053	118970053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118970053C>T	uc003ksm.2	+	3	820	c.610C>T	c.(610-612)CCA>TCA	p.P204S	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.P204S|FAM170A_uc003kso.2_Missense_Mutation_p.P157S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	204						intracellular	zinc ion binding			skin(1)	1																		---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022012	120022012	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:120022012C>G	uc003ksq.2	+	2	686	c.523C>G	c.(523-525)CCC>GCC	p.P175A	PRR16_uc003ksp.2_Missense_Mutation_p.P152A|PRR16_uc003ksr.2_Missense_Mutation_p.P105A	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	175	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)														---	---	---	---
LOX	4015	broad.mit.edu	37	5	121409723	121409723	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121409723A>G	uc003ksu.2	-	4	1395	c.1020T>C	c.(1018-1020)TGT>TGC	p.C340C	LOX_uc010jcp.2_Silent_p.C43C|LOX_uc010jcq.2_Silent_p.C43C|LOX_uc011cwk.1_Silent_p.C110C|LOX_uc010jcr.2_Silent_p.C43C	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		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)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121767674	121767674	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121767674T>A	uc003ksw.1	+	6	1399	c.1193T>A	c.(1192-1194)TTG>TAG	p.L398*	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Nonsense_Mutation_p.L398*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.L445*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.L32*|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.L32*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.L30*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.L92*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.L338*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	398	ANK 2.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121786643	121786643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121786643C>T	uc003ksw.1	+	10	2307	c.2101C>T	c.(2101-2103)CCG>TCG	p.P701S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P259S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P748S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P335S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P335S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P297S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P335S|SNCAIP_uc003kta.1_Missense_Mutation_p.P333S|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.P395S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P641S|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P217S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	701	ANK 6.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
SNX2	6643	broad.mit.edu	37	5	122137823	122137823	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122137823A>G	uc003kte.2	+						SNX2_uc011cwn.1_Intron	NM_003100	NP_003091			sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122926221	122926221	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122926221A>T	uc003ktm.2	+	9	1678	c.959A>T	c.(958-960)GAT>GTT	p.D320V	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D320V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D320V|CSNK1G3_uc003kto.2_Missense_Mutation_p.D320V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D245V|CSNK1G3_uc011cws.1_Missense_Mutation_p.D208V|CSNK1G3_uc010jda.2_Missense_Mutation_p.D321V	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	320					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123982525	123982525	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123982525C>A	uc003ktq.1	-	4	3675	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktt.1_Missense_Mutation_p.Q1184H|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1184						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984764	123984764	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:123984764G>A	uc003ktq.1	-	4	1436	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A438V|ZNF608_uc003ktt.1_Missense_Mutation_p.A438V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	438						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124080611	124080611	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:124080611A>G	uc003ktq.1	-	1	195	c.72T>C	c.(70-72)GAT>GAC	p.D24D	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.D24D|ZNF608_uc003ktt.1_Silent_p.D24D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	24						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)														---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125805413	125805413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125805413A>G	uc003ktu.2	+	3	678	c.248A>G	c.(247-249)AAC>AGC	p.N83S	GRAMD3_uc011cwt.1_Missense_Mutation_p.N98S|GRAMD3_uc011cwv.1_Missense_Mutation_p.N91S|GRAMD3_uc011cww.1_Intron|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_5'UTR|GRAMD3_uc011cwz.1_Missense_Mutation_p.N67S|GRAMD3_uc011cwu.1_Missense_Mutation_p.N67S	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	83										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126206470	126206470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126206470T>C	uc003kuf.2	-	5	1072	c.617A>G	c.(616-618)TAC>TGC	p.Y206C		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	206					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126250640	126250640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126250640T>C	uc003kuf.2	-	3	830	c.375A>G	c.(373-375)AAA>AAG	p.K125K	MARCH3_uc011cxc.1_Silent_p.K125K	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	125					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126783362	126783362	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126783362A>T	uc003kuh.3	+	22	3204	c.2842A>T	c.(2842-2844)ATG>TTG	p.M948L	MEGF10_uc003kui.3_Missense_Mutation_p.M948L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	948	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520070	127520070	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520070T>C	uc003kus.2	+	25	3476	c.3312T>C	c.(3310-3312)TTT>TTC	p.F1104F	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.F1088F	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1104	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127520484	127520484	+	Missense_Mutation	SNP	T	C	C	rs116065946	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127520484T>C	uc003kus.2	+	26	3603	c.3439T>C	c.(3439-3441)TAC>CAC	p.Y1147H	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.Y1131H	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1147	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610310	+	Missense_Mutation	SNP	A	C	C	rs151053868		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127610310A>C	uc003kuu.2	-	60	8099	c.7660T>G	c.(7660-7662)TTT>GTT	p.F2554V		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127645675	127645675	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127645675C>A	uc003kuu.2	-	40	5639	c.5200G>T	c.(5200-5202)GAC>TAC	p.D1734Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1734					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127686696	127686696	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127686696G>A	uc003kuu.2	-	21	3115	c.2676C>T	c.(2674-2676)GAC>GAT	p.D892D	FBN2_uc003kuv.2_Silent_p.D859D	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	892					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127704962	127704962	+	Missense_Mutation	SNP	C	T	T	rs149733159		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127704962C>T	uc003kuu.2	-	16	2600	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	FBN2_uc003kuv.2_Missense_Mutation_p.G688S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	721	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129001264	129001264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129001264G>A	uc003kvb.1	+	16	2480	c.2480G>A	c.(2479-2481)AGC>AAC	p.S827N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129243849	129243849	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129243849T>C	uc003kvd.2	+	2	882	c.882T>C	c.(880-882)ATT>ATC	p.I294I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	294	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)														---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131042175	131042175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131042175A>G	uc003kvs.1	-	9	985	c.843T>C	c.(841-843)TGT>TGC	p.C281C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.C253C|FNIP1_uc010jdm.1_Silent_p.C236C|FNIP1_uc003kvu.2_Silent_p.C281C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	281					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)														---	---	---	---
ACSL6	23305	broad.mit.edu	37	5	131323899	131323899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131323899C>T	uc010jdo.1	-	7	681	c.598G>A	c.(598-600)GTG>ATG	p.V200M	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.V225M|ACSL6_uc003kvy.1_Missense_Mutation_p.V225M|ACSL6_uc003kwb.2_Missense_Mutation_p.V190M|ACSL6_uc003kvz.1_Missense_Mutation_p.V165M|ACSL6_uc003kwa.1_Missense_Mutation_p.V211M|ACSL6_uc010jdn.1_Missense_Mutation_p.V215M|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	200	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131976465	131976465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131976465A>G	uc003kxi.2	+	24	4107	c.3720A>G	c.(3718-3720)GAA>GAG	p.E1240E	RAD50_uc003kxh.2_Silent_p.E1101E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1240					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232641	132232641	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132232641T>C	uc003kyd.2	-	11	2089	c.1681A>G	c.(1681-1683)ACT>GCT	p.T561A	AFF4_uc011cxk.1_Missense_Mutation_p.T239A|AFF4_uc003kye.1_Missense_Mutation_p.T561A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	561					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132412488	132412488	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132412488A>T	uc003kyj.2	+	7	1087	c.806A>T	c.(805-807)GAG>GTG	p.E269V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	269					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134050861	134050861	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134050861A>T	uc003kzs.2	+						SEC24A_uc011cxu.1_Intron	NM_021982	NP_068817			SEC24 related gene family, member A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134130617	134130617	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134130617G>T	uc003kzw.2	+	14	1872	c.1704G>T	c.(1702-1704)GAG>GAT	p.E568D	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	568	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
CATSPER3	347732	broad.mit.edu	37	5	134303734	134303734	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134303734T>C	uc003lag.2	+	1	121	c.53T>C	c.(52-54)GTT>GCT	p.V18A	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
PITX1	5307	broad.mit.edu	37	5	134364694	134364694	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134364694C>T	uc010jea.2	-	3	1113	c.720G>A	c.(718-720)TCG>TCA	p.S240S	PITX1_uc011cxy.1_Silent_p.S240S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	240	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)														---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134681658	134681658	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134681658C>T	uc003lam.1	-	7	988	c.778G>A	c.(778-780)GCT>ACT	p.A260T	H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A259T|H2AFY_uc003lan.1_Missense_Mutation_p.A257T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A88T|H2AFY_uc003las.1_Missense_Mutation_p.A260T|H2AFY_uc003lat.1_Missense_Mutation_p.A259T	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	260	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TIFAB	497189	broad.mit.edu	37	5	134785592	134785592	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134785592T>C	uc003law.3	-	2	239	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	13											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871139	134871139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134871139C>T	uc003lax.2	-	1	501	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	81					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	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
LOC153328	153328	broad.mit.edu	37	5	135207269	135207269	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135207269G>A	uc003laz.1	+	5	713	c.541G>A	c.(541-543)GCC>ACC	p.A181T	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	181	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692301	135692301	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135692301A>G	uc003lbn.1	-	1	775	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TRPC7_uc010jef.1_Missense_Mutation_p.F250L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.F250L|TRPC7_uc010jei.1_Missense_Mutation_p.F250L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	259	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
NME5	8382	broad.mit.edu	37	5	137454523	137454523	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137454523T>C	uc003lce.2	-	5	617	c.539A>G	c.(538-540)AAA>AGA	p.K180R	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	180					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492899	137492899	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492899A>G	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Nonstop_Mutation_p.*658R|BRD8_uc003lcg.2_Nonstop_Mutation_p.*952R|BRD8_uc003lci.2_Nonstop_Mutation_p.*867R|BRD8_uc003lch.2_Nonstop_Mutation_p.*758R|BRD8_uc011cym.1_Nonstop_Mutation_p.*863R|BRD8_uc010jer.1_Nonstop_Mutation_p.*833R|BRD8_uc011cyn.1_Nonstop_Mutation_p.*838R	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137492939	137492939	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137492939T>C	uc003lcf.1	-						BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Silent_p.G644G|BRD8_uc003lcg.2_Silent_p.G938G|BRD8_uc003lci.2_Silent_p.G853G|BRD8_uc003lch.2_Silent_p.G744G|BRD8_uc011cym.1_Silent_p.G849G|BRD8_uc010jer.1_Silent_p.G819G|BRD8_uc011cyn.1_Silent_p.G824G	NM_139199	NP_631938			bromodomain containing 8 isoform 2						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137500695	137500695	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137500695A>G	uc003lcf.1	-	12	1494	c.1439T>C	c.(1438-1440)GTC>GCC	p.V480A	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.V259A|BRD8_uc003lcg.2_Missense_Mutation_p.V553A|BRD8_uc003lci.2_Missense_Mutation_p.V483A|BRD8_uc003lch.2_Missense_Mutation_p.V374A|BRD8_uc011cym.1_Missense_Mutation_p.V464A|BRD8_uc010jer.1_Missense_Mutation_p.V449A|BRD8_uc011cyn.1_Missense_Mutation_p.V439A	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	480					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
GFRA3	2676	broad.mit.edu	37	5	137593531	137593531	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137593531G>A	uc003lcn.2	-	4	722	c.582C>T	c.(580-582)CAC>CAT	p.H194H	GFRA3_uc003lco.2_Silent_p.H163H	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	194					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137665314	137665314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137665314C>T	uc003lcp.1	-	3	488	c.217G>A	c.(217-219)GAT>AAT	p.D73N	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.D73N|CDC25C_uc011cyp.1_Missense_Mutation_p.D90N|CDC25C_uc003lcs.1_Missense_Mutation_p.D151N|CDC25C_uc010jet.1_Missense_Mutation_p.D73N|CDC25C_uc003lct.1_Missense_Mutation_p.D73N|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	73					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137677511	137677511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137677511A>G	uc003lcv.2	+	3	562	c.92A>G	c.(91-93)CAT>CGT	p.H31R	FAM53C_uc003lcw.2_Missense_Mutation_p.H31R|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	31										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722193	137722193	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137722193A>G	uc003lcy.1	+	7	1463	c.1263A>G	c.(1261-1263)GCA>GCG	p.A421A	KDM3B_uc010jew.1_Silent_p.A77A|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137844390	137844390	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137844390G>A	uc003ldc.3	-	10	1364	c.1199C>T	c.(1198-1200)TCT>TTT	p.S400F	ETF1_uc011cyv.1_Missense_Mutation_p.S386F|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S367F	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	400					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SIL1	64374	broad.mit.edu	37	5	138282992	138282992	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138282992T>C	uc003ldm.2	-	9	1217	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	SIL1_uc003ldn.2_Silent_p.T399T|SIL1_uc003ldo.2_Silent_p.T400T|SIL1_uc003ldp.2_Silent_p.T400T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	400					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											Marinesco-Sj_gren_syndrome				---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138658651	138658651	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138658651A>T	uc003ldu.2	+	15	2570	c.2143A>T	c.(2143-2145)AAA>TAA	p.K715*	MATR3_uc010jfb.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K377*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K715*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K715*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K392*|MATR3_uc011czb.1_Nonsense_Mutation_p.K427*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K715*|MATR3_uc003lea.2_Nonsense_Mutation_p.K715*|MATR3_uc003leb.2_Nonsense_Mutation_p.K377*|MATR3_uc003lec.2_Nonsense_Mutation_p.K392*	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	715	Nuclear localization signal (Potential).					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138718265	138718265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138718265C>T	uc003leh.2	-	2	163	c.66G>A	c.(64-66)CCG>CCA	p.P22P	SLC23A1_uc003leg.2_Silent_p.P22P	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	22					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)													---	---	---	---
MGC29506	51237	broad.mit.edu	37	5	138723491	138723491	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138723491C>A	uc003lei.2	-	4	593	c.533G>T	c.(532-534)TGC>TTC	p.C178F	MGC29506_uc010jfd.2_Missense_Mutation_p.C101F|MGC29506_uc010jfe.2_Missense_Mutation_p.C148F|MGC29506_uc003lej.2_Missense_Mutation_p.C119F	NM_016459	NP_057543	Q8WU39	PERP1_HUMAN	proapoptotic caspase adapter protein precursor	178				C->S: Does not affect activity.	apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139231249	139231249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139231249G>A	uc003lex.1	-	9	1937	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V	NRG2_uc003lev.1_Missense_Mutation_p.A579V|NRG2_uc003lew.1_Missense_Mutation_p.A573V|NRG2_uc003ley.1_Missense_Mutation_p.A565V	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	571	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC4A9	83697	broad.mit.edu	37	5	139742516	139742516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139742516G>A	uc003lfm.2	+	7	934	c.899G>A	c.(898-900)CGT>CAT	p.R300H	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276H|SLC4A9_uc011czg.1_Missense_Mutation_p.R276H|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	300	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884538	139884538	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139884538A>G	uc003lfs.1	+	16	3261	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	ANKHD1_uc003lfq.1_Missense_Mutation_p.D1065G|ANKHD1_uc003lfr.2_Missense_Mutation_p.D1046G|ANKHD1_uc003lft.1_Missense_Mutation_p.D257G|ANKHD1_uc003lfu.1_Missense_Mutation_p.D526G|ANKHD1_uc003lfv.1_Missense_Mutation_p.D123G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1046						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928648	139928648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139928648G>T	uc003lfs.1	+	35	7961	c.7837G>T	c.(7837-7839)GGA>TGA	p.G2613*	ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.G1369*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.G758*|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.E87D	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2613						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SRA1	10011	broad.mit.edu	37	5	139930498	139930498	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139930498T>C	uc003lga.2	-						SRA1_uc003lfz.2_Intron|SRA1_uc010jfm.2_Intron	NM_001035235	NP_001030312			steroid receptor RNA activator 1						apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
APBB3	10307	broad.mit.edu	37	5	139941253	139941253	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139941253G>A	uc003lgd.1	-	7	1040	c.681C>T	c.(679-681)AGC>AGT	p.S227S	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Silent_p.S220S|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'UTR	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	222	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139947206	139947206	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139947206C>A	uc003lgg.1	+	3	1180	c.452C>A	c.(451-453)GCT>GAT	p.A151D	SLC35A4_uc003lgh.1_Missense_Mutation_p.A151D	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	151	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IK	3550	broad.mit.edu	37	5	140038640	140038640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140038640G>A	uc003lgq.2	+	12	1177	c.1067G>A	c.(1066-1068)CGA>CAA	p.R356Q		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	356	8.|17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
WDR55	54853	broad.mit.edu	37	5	140048054	140048054	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140048054G>A	uc003lgr.3	+	3	461	c.347G>A	c.(346-348)GGC>GAC	p.G116D	WDR55_uc011czl.1_5'Flank	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	116	WD 2.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176593	140176593	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176593G>A	uc003lhd.2	+	1	2150	c.2044G>A	c.(2044-2046)GCG>ACG	p.A682T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A682T|PCDHA2_uc011czy.1_Missense_Mutation_p.A682T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176640	140176640	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176640C>T	uc003lhd.2	+	1	2197	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N697N|PCDHA2_uc011czy.1_Silent_p.N697N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182255	140182255	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140182255C>A	uc003lhf.2	+	1	1473	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S491S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	491	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202809	140202809	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140202809G>A	uc003lhl.2	+	1	1449	c.1449G>A	c.(1447-1449)GCG>GCA	p.A483A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A483A|PCDHA5_uc003lhj.1_Silent_p.A483A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203209	140203209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140203209G>A	uc003lhl.2	+	1	1849	c.1849G>A	c.(1849-1851)GCG>ACG	p.A617T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A617T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A617T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207924	140207924	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140207924T>C	uc003lho.2	+	1	275	c.248T>C	c.(247-249)ATT>ACT	p.I83T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.I83T|PCDHA6_uc011dab.1_Missense_Mutation_p.I83T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214222	140214222	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140214222T>C	uc003lhq.2	+	1	254	c.254T>C	c.(253-255)TTT>TCT	p.F85S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F85S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	85	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222879	140222879	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222879C>T	uc003lhs.2	+	1	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A658V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230182	140230182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140230182T>C	uc003lhu.2	+	1	2826	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I701T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140248964	140248964	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140248964C>T	uc003lia.2	+	1	1134	c.276C>T	c.(274-276)CGC>CGT	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R92R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	92	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249904	140249904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140249904T>C	uc003lia.2	+	1	2074	c.1216T>C	c.(1216-1218)TTG>CTG	p.L406L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L406L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250499	140250499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250499C>T	uc003lia.2	+	1	2669	c.1811C>T	c.(1810-1812)GCG>GTG	p.A604V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A604V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250882	140250882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250882G>A	uc003lia.2	+	1	3052	c.2194G>A	c.(2194-2196)GCG>ACG	p.A732T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256548	140256548	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140256548G>A	uc003lic.2	+	1	1618	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R497R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263955	140263955	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263955T>C	uc003lif.2	+	1	2102	c.2102T>C	c.(2101-2103)ATC>ACC	p.I701T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.I701T|PCDHA13_uc003lid.2_Missense_Mutation_p.I701T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140431551	140431551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140431551G>A	uc003lik.1	+	1	573	c.496G>A	c.(496-498)GGT>AGT	p.G166S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	166	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140433299	140433299	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140433299C>A	uc003lik.1	+	1	2321	c.2244C>A	c.(2242-2244)TCC>TCA	p.S748S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	748	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481490	140481490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140481490T>C	uc003lio.2	+	1	1257	c.1257T>C	c.(1255-1257)ATT>ATC	p.I419I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	419	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140501585	140501585	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140501585A>G	uc003lip.1	+	1	5	c.5A>G	c.(4-6)AAG>AGG	p.K2R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	2					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515442C>T	uc003liq.2	+	1	643	c.426C>T	c.(424-426)ATC>ATT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	142	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515648	140515648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140515648C>T	uc003liq.2	+	1	849	c.632C>T	c.(631-633)ACA>ATA	p.T211I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	211	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516313	140516313	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516313G>A	uc003liq.2	+	1	1514	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	433	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516700	140516700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516700T>C	uc003liq.2	+	1	1901	c.1684T>C	c.(1684-1686)TAT>CAT	p.Y562H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531928	140531928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140531928C>T	uc003lir.2	+	1	2090	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PCDHB6_uc011dah.1_Missense_Mutation_p.S561L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553330	140553330	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140553330C>T	uc003lit.2	+	1	1088	c.914C>T	c.(913-915)GCG>GTG	p.A305V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	305	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554319	140554319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554319G>A	uc003lit.2	+	1	2077	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554538	140554538	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554538G>A	uc003lit.2	+	1	2296	c.2122G>A	c.(2122-2124)GCG>ACG	p.A708T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	708	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559013	140559013	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559013C>T	uc011dai.1	+	1	1584	c.1398C>T	c.(1396-1398)AGC>AGT	p.S466S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	466	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559044	140559044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559044A>G	uc011dai.1	+	1	1615	c.1429A>G	c.(1429-1431)ACA>GCA	p.T477A	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559515	140559515	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559515C>T	uc011dai.1	+	1	2086	c.1900C>T	c.(1900-1902)CGC>TGC	p.R634C	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564217	140564217	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564217G>A	uc003liv.2	+	1	3238	c.2083G>A	c.(2083-2085)GCC>ACC	p.A695T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	695	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB9	56127	broad.mit.edu	37	5	140568905	140568905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140568905C>T	uc003liw.1	+	3	2014	c.2014C>T	c.(2014-2016)CCT>TCT	p.P672S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588478	140588478	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140588478C>T	uc003liz.2	+	1					PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755			protocadherin beta 12 precursor						homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589857	140589857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140589857G>A	uc003liz.2	+	1	1567	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB12_uc011dak.1_Missense_Mutation_p.V123I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140603685	140603685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140603685A>G	uc003ljb.2	+	1	608	c.608A>G	c.(607-609)GAA>GGA	p.E203G	PCDHB14_uc011dal.1_Missense_Mutation_p.E50G	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	203	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	A	A	rs142658705		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626180	140626180	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140626180C>T	uc003lje.2	+	1	1034	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	345	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683071	140683071	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683071G>A	uc003ljf.2	-	1	542	c.362C>T	c.(361-363)GCA>GTA	p.A121V		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	121	Helical; Name=3; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683297	140683297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683297C>T	uc003ljf.2	-	1	316	c.136G>A	c.(136-138)GGC>AGC	p.G46S		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	46	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
TAF7	6879	broad.mit.edu	37	5	140699608	140699608	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140699608T>A	uc003ljg.2	-	1	744	c.4A>T	c.(4-6)AGT>TGT	p.S2C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	2					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140719387	140719387	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140719387A>G	uc003ljk.1	+	1	1034	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.K283K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720359	140720359	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720359C>T	uc003ljk.1	+	1	2006	c.1821C>T	c.(1819-1821)CAC>CAT	p.H607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720427	140720427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720427G>A	uc003ljk.1	+	1	2074	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R630Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724148	140724148	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724148A>C	uc003ljm.1	+	1	548	c.548A>C	c.(547-549)AAT>ACT	p.N183T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.N183T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	183	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724815	140724815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724815G>A	uc003ljm.1	+	1	1215	c.1215G>A	c.(1213-1215)GTG>GTA	p.V405V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.V165V|PCDHGA3_uc011dap.1_Silent_p.V405V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	405	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725277	140725277	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140725277G>A	uc003ljm.1	+	1	1677	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A319A|PCDHGA3_uc011dap.1_Silent_p.A559A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730650	140730650	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140730650A>G	uc003ljo.1	+	1	823	c.823A>G	c.(823-825)ACC>GCC	p.T275A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T275A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	275	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735028	140735028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140735028G>A	uc003ljq.1	+	1	261	c.261G>A	c.(259-261)GCG>GCA	p.A87A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A87A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	87	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745654	140745654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140745654A>G	uc003lju.1	+	1	1757	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Y586C	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751474	140751474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751474G>A	uc003ljw.1	+	1	1513	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V505M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	505	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763143	140763143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140763143C>T	uc003lka.1	+	1	677	c.677C>T	c.(676-678)GCC>GTC	p.A226V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A226V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	226	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140764596	140764596	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140764596A>G	uc003lka.1	+	1	2130	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.V710V|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769090	140769090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140769090C>T	uc003lkc.1	+	1	1639	c.1639C>T	c.(1639-1641)CGC>TGC	p.R547C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R547C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	547	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773828	140773828	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773828A>G	uc003lkd.1	+	1	2346	c.1448A>G	c.(1447-1449)GAG>GGG	p.E483G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.E483G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774055	140774055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140774055G>A	uc003lkd.1	+	1	2573	c.1675G>A	c.(1675-1677)GCG>ACG	p.A559T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A559T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	559	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784150	140784150	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140784150G>A	uc003lkh.1	+	1	1631	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S544N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	544	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799290	140799290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140799290C>T	uc003lkn.1	+	1	2009	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.R622*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140800891	140800891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140800891C>T	uc003lkq.1	+	1	355	c.97C>T	c.(97-99)CGA>TGA	p.R33*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.R33*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.R33*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	33	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812139	140812139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812139T>C	uc003lkt.1	+	1	1982	c.1813T>C	c.(1813-1815)TCC>CCC	p.S605P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S605P	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812199	140812199	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140812199G>A	uc003lkt.1	+	1	2042	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E625K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857037	140857037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140857037G>A	uc003lkv.1	+	1	1469	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D452N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	452	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140866146	140866146	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140866146G>A	uc003lky.1	+	1	1406	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R469H|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243630	141243630	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141243630T>C	uc003llq.2	-	3	2383	c.2266A>G	c.(2266-2268)ATT>GTT	p.I756V	PCDH1_uc003llp.2_Missense_Mutation_p.I756V|PCDH1_uc011dbf.1_Missense_Mutation_p.I734V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	756	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244610	141244610	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141244610G>A	uc003llq.2	-	3	1403	c.1286C>T	c.(1285-1287)GCT>GTT	p.A429V	PCDH1_uc003llp.2_Missense_Mutation_p.A429V|PCDH1_uc011dbf.1_Missense_Mutation_p.A407V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	429	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336597	141336597	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141336597C>T	uc003llx.2	-	1	2031	c.820G>A	c.(820-822)GGC>AGC	p.G274S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	274	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RNF14	9604	broad.mit.edu	37	5	141354437	141354437	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141354437C>A	uc003lly.2	+	3	262	c.223C>A	c.(223-225)CTG>ATG	p.L75M	RNF14_uc003llz.2_Missense_Mutation_p.L75M|RNF14_uc003lma.2_Missense_Mutation_p.L75M|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Missense_Mutation_p.L75M|RNF14_uc011dbg.1_Missense_Mutation_p.L75M|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.L75M	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	75	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---
FGF1	2246	broad.mit.edu	37	5	141993704	141993704	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141993704T>C	uc003lmm.2	-	2					FGF1_uc011dbi.1_5'UTR|FGF1_uc003lmn.3_5'UTR|FGF1_uc003lmp.3_5'UTR|FGF1_uc003lmq.2_5'UTR|FGF1_uc010jgj.2_5'UTR|FGF1_uc003lmr.2_5'UTR|FGF1_uc003lms.3_5'UTR	NM_001144892	NP_001138364			fibroblast growth factor 1 (acidic) isoform 1						angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)													---	---	---	---
YIPF5	81555	broad.mit.edu	37	5	143545034	143545034	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:143545034T>C	uc003lnk.3	-	3	686	c.245A>G	c.(244-246)TAT>TGT	p.Y82C	YIPF5_uc003lnl.3_Missense_Mutation_p.Y82C|YIPF5_uc010jgl.2_Missense_Mutation_p.Y28C	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	82	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)															---	---	---	---
PLAC8L1	153770	broad.mit.edu	37	5	145477795	145477795	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145477795C>T	uc003lnv.2	-	2	252	c.180G>A	c.(178-180)ACG>ACA	p.T60T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	60											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145719218	145719218	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145719218C>A	uc003loa.2	+	2	317	c.228C>A	c.(226-228)CCC>CCA	p.P76P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	76					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145838891	145838891	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145838891A>G	uc003lob.2	+	4	923	c.883A>G	c.(883-885)ACA>GCA	p.T295A	TCERG1_uc003loc.2_Missense_Mutation_p.T295A|TCERG1_uc011dbt.1_Missense_Mutation_p.T295A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	295	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145888807	145888807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145888807A>G	uc003lob.2	+	21	3134	c.3094A>G	c.(3094-3096)AGA>GGA	p.R1032G	TCERG1_uc003loc.2_Missense_Mutation_p.R1011G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1032	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
STK32A	202374	broad.mit.edu	37	5	146722576	146722576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146722576A>G	uc010jgn.1	+	6	722	c.442A>G	c.(442-444)AAG>GAG	p.K148E	STK32A_uc003lol.3_Missense_Mutation_p.K148E|STK32A_uc003lom.2_Missense_Mutation_p.K148E|STK32A_uc011dbw.1_Missense_Mutation_p.K148E	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	148	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146780384	146780384	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146780384C>T	uc003lon.1	-	10	1091	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	DPYSL3_uc003loo.2_Silent_p.Q441Q	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	327					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146788299	146788299	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146788299G>T	uc003lon.1	-	7	792	c.682C>A	c.(682-684)CCA>ACA	p.P228T	DPYSL3_uc003loo.2_Missense_Mutation_p.P342T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	228					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795370	146795370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146795370G>A	uc003lon.1	-	4	490	c.380C>T	c.(379-381)GCT>GTT	p.A127V	DPYSL3_uc003loo.2_Missense_Mutation_p.A241V	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SPINK1	6690	broad.mit.edu	37	5	147207595	147207595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147207595A>G	uc003los.2	-	3	304	c.184T>C	c.(184-186)TTT>CTT	p.F62L		NM_003122	NP_003113	P00995	ISK1_HUMAN	serine protease inhibitor, Kazal type 1	62	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											Hereditary_Pancreatitis				---	---	---	---
SPINK14	408187	broad.mit.edu	37	5	147553843	147553843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147553843C>T	uc003loz.1	+	3	158	c.158C>T	c.(157-159)ACG>ATG	p.T53M		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	53	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0																		---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147796770	147796770	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147796770A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147813094	147813094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147813094A>G	uc003lpf.1	+						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206582	148206582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148206582G>A	uc003lpr.1	+	1	427	c.188G>A	c.(187-189)CGT>CAT	p.R63H	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	63	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207139	148207139	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148207139G>A	uc003lpr.1	+	1	984	c.745G>A	c.(745-747)GAG>AAG	p.E249K	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	249	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)													---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148420185	148420185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148420185T>C	uc003lpu.2	-	7	939	c.787A>G	c.(787-789)ACA>GCA	p.T263A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.T256A|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.T148A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	263							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148626049	148626049	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148626049C>A	uc003lpy.2	+	17	1742	c.1491C>A	c.(1489-1491)CCC>CCA	p.P497P	ABLIM3_uc003lpz.1_Silent_p.P497P|ABLIM3_uc003lqa.1_Silent_p.P394P|ABLIM3_uc003lqb.2_Silent_p.P386P|ABLIM3_uc003lqc.1_Silent_p.P464P|ABLIM3_uc003lqd.1_Silent_p.P402P|ABLIM3_uc003lqf.2_Silent_p.P386P|ABLIM3_uc003lqe.1_Silent_p.P386P	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	497					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148687000	148687000	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148687000T>A	uc003lqh.2	+	7	702	c.571T>A	c.(571-573)TCC>ACC	p.S191T	AFAP1L1_uc003lqg.3_Missense_Mutation_p.S191T|AFAP1L1_uc010jgy.2_Missense_Mutation_p.S191T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	191							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148754010	148754010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148754010C>T	uc003lqo.2	-	3	515	c.465G>A	c.(463-465)CCG>CCA	p.P155P		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	155					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
IL17B	27190	broad.mit.edu	37	5	148756561	148756561	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148756561G>T	uc003lqo.2	-	2	99	c.49C>A	c.(49-51)CTG>ATG	p.L17M		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	17					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149001301	149001301	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149001301A>T	uc003lra.1	+	9	1075	c.1011A>T	c.(1009-1011)CAA>CAT	p.Q337H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	337	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212461	149212461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149212461C>T	uc003lrc.2	+	5	867	c.825C>T	c.(823-825)CCC>CCT	p.P275P	PPARGC1B_uc003lrb.1_Silent_p.P275P|PPARGC1B_uc003lrd.2_Silent_p.P236P|PPARGC1B_uc003lrf.2_Silent_p.P254P|PPARGC1B_uc003lre.1_Silent_p.P254P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	275					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149361002	149361002	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149361002G>A	uc003lrh.2	+	3	2114	c.1846G>A	c.(1846-1848)GCA>ACA	p.A616T		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	616	STAS.|Extracellular (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149456864	149456864	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149456864G>A	uc003lrl.2	-	5	1059	c.864C>T	c.(862-864)TCC>TCT	p.S288S	CSF1R_uc011dcd.1_Silent_p.S140S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S288S|CSF1R_uc011dce.1_Silent_p.S288S|CSF1R_uc011dcf.1_Silent_p.S288S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	288	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)													---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149583563	149583563	+	Missense_Mutation	SNP	G	A	A	rs139016893		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149583563G>A	uc003lrr.2	+	10	1665	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	432	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)													---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677666	149677666	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149677666A>C	uc003lrv.2	-	2	1410	c.821T>G	c.(820-822)GTG>GGG	p.V274G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	274						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755412	149755412	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149755412C>T	uc003lry.2	+	12	1941	c.1833C>T	c.(1831-1833)AGC>AGT	p.S611S	TCOF1_uc003lrw.2_Silent_p.S611S|TCOF1_uc011dch.1_Silent_p.S611S|TCOF1_uc003lrz.2_Silent_p.S611S|TCOF1_uc003lrx.2_Silent_p.S534S|TCOF1_uc003lsa.2_Silent_p.S534S|TCOF1_uc011dci.1_Silent_p.S100S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	611					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150027979	150027979	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150027979C>A	uc003lsn.2	+	3	1248	c.874C>A	c.(874-876)CGA>AGA	p.R292R	SYNPO_uc003lso.3_Silent_p.R48R|SYNPO_uc003lsp.2_Silent_p.R48R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	292					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150138455	150138455	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150138455C>T	uc003lsv.2	-	1	203	c.101G>A	c.(100-102)AGC>AAC	p.S34N	DCTN4_uc003lsu.2_5'Flank|DCTN4_uc010jhi.2_Missense_Mutation_p.S34N|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_5'Flank	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	34						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275987	150275987	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150275987C>T	uc003lsy.1	-	6	1081	c.814G>A	c.(814-816)GTT>ATT	p.V272I	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	272	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A3	285641	broad.mit.edu	37	5	150678148	150678148	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150678148T>C	uc003ltw.2	-						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_5'Flank|SLC36A3_uc003ltx.2_Intron	NM_181774	NP_861439			solute carrier family 36, member 3 isoform 2							integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150704980	150704980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150704980G>A	uc003lty.2	-	8	1007	c.877C>T	c.(877-879)CGC>TGC	p.R293C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.R95C|SLC36A2_uc010jhv.2_Missense_Mutation_p.R293C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	293	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SLC36A1	206358	broad.mit.edu	37	5	150838460	150838460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150838460G>A	uc003luc.2	+	2	324	c.107G>A	c.(106-108)GGC>GAC	p.G36D	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.G36D|SLC36A1_uc010jhw.1_Missense_Mutation_p.G36D	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	36	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)													---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150887158	150887158	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150887158G>A	uc003lue.3	-	22	12087	c.12074C>T	c.(12073-12075)GCG>GTG	p.A4025V	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A632V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4025	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150901461	150901461	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150901461T>C	uc003lue.3	-	18	10706	c.10693A>G	c.(10693-10695)ACC>GCC	p.T3565A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T258A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3565	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922517	150922517	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150922517T>C	uc003lue.3	-	9	8184	c.8171A>G	c.(8170-8172)TAC>TGC	p.Y2724C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2724	Cadherin 24.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945761	150945761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150945761A>G	uc003lue.3	-	1	2745	c.2732T>C	c.(2731-2733)CTG>CCG	p.L911P	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L911P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	911	Extracellular (Potential).|Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151208616	151208616	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151208616T>C	uc003lut.2	-	8	1212	c.925A>G	c.(925-927)AAA>GAA	p.K309E	GLRA1_uc003lur.2_Missense_Mutation_p.K309E|GLRA1_uc003lus.2_Missense_Mutation_p.K226E	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	309					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153174264	153174264	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153174264G>A	uc003lva.3	+						GRIA1_uc003luy.3_Missense_Mutation_p.G785D|GRIA1_uc003luz.3_Intron|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.G705D|GRIA1_uc011dcx.1_Missense_Mutation_p.G716D|GRIA1_uc011dcy.1_Intron|GRIA1_uc011dcz.1_Missense_Mutation_p.G795D	NM_001114183	NP_001107655			glutamate receptor, ionotropic, AMPA 1 isoform						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153372657	153372657	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153372657G>C	uc003lvb.2	-	14	1985	c.1397C>G	c.(1396-1398)GCC>GGC	p.A466G	FAM114A2_uc003lvc.2_Missense_Mutation_p.A466G|FAM114A2_uc003lvd.2_Missense_Mutation_p.A466G|FAM114A2_uc003lve.2_Missense_Mutation_p.A282G|FAM114A2_uc011dda.1_Missense_Mutation_p.A396G	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	466							purine nucleotide binding				0																		---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153792469	153792469	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153792469G>A	uc003lvh.2	+	10	1539	c.1407G>A	c.(1405-1407)GGG>GGA	p.G469G	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.G310G|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.G140G	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	469	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
SAP30L	79685	broad.mit.edu	37	5	153830686	153830686	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153830686T>A	uc003lvk.2	+	2	885	c.237T>A	c.(235-237)AAT>AAA	p.N79K	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154169932	154169932	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154169932C>T	uc003lvp.2	+	2	913	c.484C>T	c.(484-486)CGC>TGC	p.R162C	LARP1_uc003lvo.2_Missense_Mutation_p.R85C|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	162							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154174725	154174725	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154174725C>A	uc003lvp.2	+						LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_Intron	NM_033551	NP_291029			la related protein isoform 2								protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154185462	154185462	+	Silent	SNP	G	A	A	rs138080657		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154185462G>A	uc003lvp.2	+	15	2997	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	LARP1_uc003lvo.2_Silent_p.T779T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	856							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154287325	154287325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154287325G>A	uc003lvx.3	-	16	2304	c.2221C>T	c.(2221-2223)CCC>TCC	p.P741S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P740S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	741	Poly-Lys.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154393675	154393675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154393675G>A	uc010jih.1	+	1	416	c.256G>A	c.(256-258)GCC>ACC	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514181	156514181	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156514181A>G	uc003lwk.1	-	7	982	c.838T>C	c.(838-840)TAT>CAT	p.Y280H		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	280	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533902	156533902	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156533902C>T	uc003lwk.1	-	2	274	c.130G>A	c.(130-132)GCC>ACC	p.A44T	HAVCR2_uc003lwl.2_Missense_Mutation_p.A44T	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	44	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589648	156589648	+	Missense_Mutation	SNP	G	T	T	rs17852327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156589648G>T	uc003lwn.2	-	2	1728	c.1628C>A	c.(1627-1629)GCC>GAC	p.A543D		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	543						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590270	156590270	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156590270T>C	uc003lwn.2	-	2	1106	c.1006A>G	c.(1006-1008)ATA>GTA	p.I336V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	336						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
ITK	3702	broad.mit.edu	37	5	156608049	156608049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156608049A>G	uc003lwo.1	+	1	143	c.61A>G	c.(61-63)ACT>GCT	p.T21A		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)					T	SYK	peripheral T-cell lymphoma								---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156895765	156895765	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156895765G>T	uc003lwx.3	+	4	672	c.556G>T	c.(556-558)GCA>TCA	p.A186S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A167S|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	186	Extracellular (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156920054	156920054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156920054C>T	uc003lwz.2	-	16	1899	c.1835G>A	c.(1834-1836)CGA>CAA	p.R612Q	ADAM19_uc003lww.1_Missense_Mutation_p.R345Q|ADAM19_uc003lwy.2_Missense_Mutation_p.R211Q|ADAM19_uc011ddr.1_Missense_Mutation_p.R543Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	612	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157073639	157073639	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:157073639A>C	uc003lxb.1	-						SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Intron	NM_178424	NP_848511			SRY (sex determining region Y)-box 30 isoform a						regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158596721	158596721	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158596721A>G	uc003lxp.2	-	7	1217	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	RNF145_uc011ddy.1_Missense_Mutation_p.Y316H|RNF145_uc003lxo.1_Missense_Mutation_p.Y330H|RNF145_uc011ddz.1_Missense_Mutation_p.Y319H|RNF145_uc010jiq.1_Missense_Mutation_p.Y332H|RNF145_uc011dea.1_Missense_Mutation_p.Y318H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	302						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158747327	158747327	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158747327G>A	uc003lxr.1	-	5	726	c.684C>T	c.(682-684)TTC>TTT	p.F228F		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	228					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159832114	159832114	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159832114C>T	uc003lyg.2	-	13	1471	c.1316G>A	c.(1315-1317)GGC>GAC	p.G439D		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	439					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161317996	161317996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161317996A>T	uc010jiw.2	+	9	1264	c.796A>T	c.(796-798)ATT>TTT	p.I266F	GABRA1_uc010jix.2_Missense_Mutation_p.I266F|GABRA1_uc010jiy.2_Missense_Mutation_p.I266F|GABRA1_uc003lyx.3_Missense_Mutation_p.I266F|GABRA1_uc010jiz.2_Missense_Mutation_p.I266F|GABRA1_uc010jja.2_Missense_Mutation_p.I266F|GABRA1_uc010jjb.2_Missense_Mutation_p.I266F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	266	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)													---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580347	161580347	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161580347C>A	uc003lyz.3	+	9	1735	c.1377C>A	c.(1375-1377)GTC>GTA	p.V459V	GABRG2_uc010jjc.2_Silent_p.V507V|GABRG2_uc003lyy.3_Silent_p.V467V|GABRG2_uc011dej.1_Silent_p.V364V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	459	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167674382	167674382	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167674382C>T	uc010jjd.2	+	27	6411	c.6411C>T	c.(6409-6411)GCC>GCT	p.A2137A	ODZ2_uc003lzr.3_Silent_p.A1907A|ODZ2_uc003lzt.3_Silent_p.A1510A|ODZ2_uc010jje.2_Silent_p.A1401A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167855037	167855037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167855037G>T	uc003lzu.2	+	12	1904	c.1811_splice	c.e12-1	p.A604_splice	WWC1_uc003lzv.2_Splice_Site_p.A604_splice|WWC1_uc011den.1_Splice_Site_p.A604_splice|WWC1_uc003lzw.2_Splice_Site_p.A403_splice	NM_015238	NP_056053			WW and C2 domain containing 1 isoform 3						cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)														---	---	---	---
FBLL1	345630	broad.mit.edu	37	5	167957293	167957293	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167957293G>A	uc011dep.1	+	1	712	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NR_024356				RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1;          EC=2.1.1.-;												0																		---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168244401	168244401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168244401G>A	uc003mab.2	-	8	1117	c.697C>T	c.(697-699)CGA>TGA	p.R233*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.R233*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R233*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R30*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	233	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169025591	169025591	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169025591T>C	uc003mae.3	+						CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255			coiled-coil domain containing 99						cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139186	169139186	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139186A>G	uc003maf.2	+	17	1698	c.1618A>G	c.(1618-1620)ACT>GCT	p.T540A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Missense_Mutation_p.T58A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	540	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169139203	169139203	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169139203A>G	uc003maf.2	+	17	1715	c.1635A>G	c.(1633-1635)GGA>GGG	p.G545G	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Intron|DOCK2_uc010jjl.1_Silent_p.G63G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	545	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188543	169188543	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169188543A>G	uc003maf.2	+	25	2548	c.2468A>G	c.(2467-2469)TAC>TGC	p.Y823C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y315C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	823					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169445980	169445980	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169445980C>T	uc003maf.2	+	33	3329	c.3249C>T	c.(3247-3249)TGC>TGT	p.C1083C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.C575C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1083	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169461563	169461563	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169461563C>T	uc003maf.2	+						DOCK2_uc011der.1_Intron|DOCK2_uc010jjm.2_Intron	NM_004946	NP_004937			dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169675795	169675795	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169675795T>A	uc003man.1	-	21	1715	c.1508A>T	c.(1507-1509)GAC>GTC	p.D503V	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.D298V|LCP2_uc011det.1_Missense_Mutation_p.D332V	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	503	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169685133	169685133	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169685133A>G	uc003man.1	-	16	1215	c.1008T>C	c.(1006-1008)CCT>CCC	p.P336P	LCP2_uc011des.1_Silent_p.P131P|LCP2_uc011det.1_Silent_p.P165P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	336					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)														---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	170149719	170149719	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170149719C>G	uc003mas.2	+	6	892	c.363C>G	c.(361-363)GAC>GAG	p.D121E	KCNIP1_uc003map.2_Missense_Mutation_p.D119E|KCNIP1_uc003mat.2_Missense_Mutation_p.D110E|KCNIP1_uc010jjp.2_Missense_Mutation_p.D82E|KCNIP1_uc010jjq.2_Missense_Mutation_p.D135E	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	121	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170669797	170669797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170669797T>A	uc003mba.2	+	24	2765	c.2749T>A	c.(2749-2751)TCT>ACT	p.S917T	RANBP17_uc003mbb.2_Missense_Mutation_p.S242T|RANBP17_uc003mbd.2_Missense_Mutation_p.S280T|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	917					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170725821	170725821	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170725821G>A	uc003mba.2	+	28	3242	c.3226G>A	c.(3226-3228)GAT>AAT	p.D1076N	RANBP17_uc003mbb.2_Missense_Mutation_p.D401N|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1076					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
NPM1	4869	broad.mit.edu	37	5	170818392	170818392	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170818392A>T	uc011dex.1	+	4	357	c.222A>T	c.(220-222)GTA>GTT	p.V74V	NPM1_uc003mbh.2_Silent_p.V74V|NPM1_uc003mbi.2_Silent_p.V74V|NPM1_uc003mbj.2_Silent_p.V74V	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	74	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T|F 	ALK|RARA|MLF1	NHL|APL|AML								---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171303497	171303497	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171303497A>T	uc003mbm.1	-	8	1321	c.950T>A	c.(949-951)ATC>AAC	p.I317N	FBXW11_uc011dey.1_Missense_Mutation_p.I285N|FBXW11_uc003mbl.1_Missense_Mutation_p.I304N|FBXW11_uc003mbn.1_Missense_Mutation_p.I283N	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	317					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172386991	172386991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172386991C>T	uc003mcc.2	+	2	157	c.115C>T	c.(115-117)CGG>TGG	p.R39W	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172660160	172660160	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172660160G>A	uc003mcm.1	-	2	563	c.387C>T	c.(385-387)AAC>AAT	p.N129N	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	129					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
STC2	8614	broad.mit.edu	37	5	172752893	172752893	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172752893T>C	uc003mco.1	-	2	1582	c.272A>G	c.(271-273)AAC>AGC	p.N91S	STC2_uc003mcn.1_Missense_Mutation_p.N6S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	91					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
HMP19	51617	broad.mit.edu	37	5	173531319	173531319	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173531319G>A	uc003mcx.2	+	4	447	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	HMP19_uc011dfh.1_Missense_Mutation_p.A5T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	101	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176004773	176004773	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176004773G>A	uc003mem.1	+	14	1552	c.1486G>A	c.(1486-1488)GGC>AGC	p.G496S	CDHR2_uc003men.1_Missense_Mutation_p.G496S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	496	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176005480	176005480	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176005480C>T	uc003mem.1	+	16	1755	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	CDHR2_uc003men.1_Silent_p.G563G	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	563	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011262	176011262	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176011262T>C	uc003mem.1	+	18	2194	c.2128_splice	c.e18+2	p.G710_splice	CDHR2_uc003men.1_Splice_Site_p.G710_splice	NM_017675	NP_060145			protocadherin LKC precursor						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176295830	176295830	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176295830C>T	uc003mey.2	+	5	778	c.586C>T	c.(586-588)CCC>TCC	p.P196S	UNC5A_uc003mex.1_Missense_Mutation_p.P196S|UNC5A_uc010jkg.1_Missense_Mutation_p.P156S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	196	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176297464	176297464	+	Missense_Mutation	SNP	G	A	A	rs147243158	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176297464G>A	uc003mey.2	+	6	1007	c.815G>A	c.(814-816)CGC>CAC	p.R272H	UNC5A_uc003mex.1_Missense_Mutation_p.R272H|UNC5A_uc010jkg.1_Missense_Mutation_p.R232H	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	272	TSP type-1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306343	176306343	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176306343G>T	uc003mey.2	+	14	2409	c.2217G>T	c.(2215-2217)GAG>GAT	p.E739D		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	739	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
HK3	3101	broad.mit.edu	37	5	176314586	176314586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176314586G>A	uc003mfa.2	-	11	1558	c.1466C>T	c.(1465-1467)CCA>CTA	p.P489L	HK3_uc003mez.2_Missense_Mutation_p.P45L	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	489	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176382954	176382954	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176382954A>G	uc011dfp.1	-						UIMC1_uc003mfc.1_Intron|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374			ubiquitin interaction motif containing 1						double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176562872	176562872	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176562872C>T	uc003mfr.3	+	2	906	c.768C>T	c.(766-768)GCC>GCT	p.A256A	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.A256A|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.A256A|NSD1_uc003mfq.2_Silent_p.A256A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	256					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176694615	176694615	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176694615C>T	uc003mfr.3	+	15	5337	c.5199C>T	c.(5197-5199)TGC>TGT	p.C1733C	NSD1_uc003mft.3_Silent_p.C1464C|NSD1_uc003mfs.1_Silent_p.C1630C|NSD1_uc011dfx.1_Silent_p.C1381C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1733	PHD-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707623	176707623	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176707623C>T	uc003mfr.3	+	18	5818	c.5680C>T	c.(5680-5682)CGT>TGT	p.R1894C	NSD1_uc003mft.3_Missense_Mutation_p.R1625C|NSD1_uc003mfs.1_Missense_Mutation_p.R1791C|NSD1_uc011dfx.1_Missense_Mutation_p.R1542C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1894	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
MXD3	83463	broad.mit.edu	37	5	176734623	176734623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176734623T>C	uc003mgb.2	-	6	1048	c.587A>G	c.(586-588)CAC>CGC	p.H196R	MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.T222A|MXD3_uc003mgc.2_Missense_Mutation_p.H186R	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176765512	176765512	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176765512T>C	uc003mge.2	-	3	647	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	LMAN2_uc003mgd.2_Missense_Mutation_p.Y137C	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	137	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176943356	176943356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176943356G>A	uc003mho.2	-	3	252	c.231C>T	c.(229-231)ATC>ATT	p.I77I	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	77					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)															---	---	---	---
TMED9	54732	broad.mit.edu	37	5	177022356	177022356	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177022356C>T	uc003mhx.2	+	5	650	c.647C>T	c.(646-648)GCC>GTC	p.A216V	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	216	Helical; (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419899	177419899	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177419899C>T	uc003mif.1	-	3	801	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	164					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177682016	177682016	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177682016G>A	uc003mje.2	-	16	1252	c.894C>T	c.(892-894)GGC>GGT	p.G298G	COL23A1_uc010jkt.2_Silent_p.G180G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	298	Extracellular (Potential).|Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)														---	---	---	---
ZNF354B	117608	broad.mit.edu	37	5	178293336	178293336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178293336T>C	uc003mjl.2	+	3	351	c.125T>C	c.(124-126)GTG>GCG	p.V42A	ZNF354B_uc003mjm.2_Missense_Mutation_p.V42A	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
ZFP2	80108	broad.mit.edu	37	5	178359389	178359389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178359389T>C	uc003mjn.1	+	5	1584	c.1075T>C	c.(1075-1077)TGT>CGT	p.C359R	ZFP2_uc010jky.2_Missense_Mutation_p.C359R|ZFP2_uc010jkx.1_Missense_Mutation_p.C359R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	359	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178408805	178408805	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178408805C>T	uc003mjr.2	-	10	2666	c.2487G>A	c.(2485-2487)TCG>TCA	p.S829S	GRM6_uc003mjq.2_Silent_p.S232S	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	829	Helical; Name=7; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413301	178413301	+	Missense_Mutation	SNP	C	T	T	rs150850494		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413301C>T	uc003mjr.2	-	8	2133	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A235T|GRM6_uc003mjs.1_Missense_Mutation_p.A272T	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	652	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178556924	178556924	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178556924T>C	uc003mjw.2	-							NM_014244	NP_055059			ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178699971	178699971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178699971A>G	uc003mjw.2	-	3	629	c.629T>C	c.(628-630)GTG>GCG	p.V210A	ADAMTS2_uc011dgm.1_Missense_Mutation_p.V210A	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)														---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179201856	179201856	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179201856A>G	uc003mkm.2	+	5	3292	c.3029A>G	c.(3028-3030)GAC>GGC	p.D1010G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	1010					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
SQSTM1	8878	broad.mit.edu	37	5	179251252	179251252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179251252G>A	uc003mkw.3	+	4	697	c.602G>A	c.(601-603)GGT>GAT	p.G201D	SQSTM1_uc011dgr.1_Missense_Mutation_p.G117D|SQSTM1_uc011dgs.1_Missense_Mutation_p.G117D|SQSTM1_uc003mkv.3_Missense_Mutation_p.G201D|SQSTM1_uc003mkx.2_Missense_Mutation_p.G117D	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	201	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											Paget_Disease_of_Bone				---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179302057	179302057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179302057G>A	uc003mlh.2	-	12	2068	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	TBC1D9B_uc003mli.2_Silent_p.S677S|TBC1D9B_uc003mlj.2_Silent_p.S677S|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	677	Helical; (Potential).|Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
RASGEF1C	255426	broad.mit.edu	37	5	179564616	179564616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179564616G>A	uc003mlq.2	-	2	571	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	RASGEF1C_uc003mlr.2_Nonsense_Mutation_p.Q92*|RASGEF1C_uc003mlp.3_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	92	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179688787	179688787	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179688787C>T	uc003mls.3	-	5	618	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	MAPK9_uc003mlt.3_Missense_Mutation_p.C116Y|MAPK9_uc010jlc.2_Missense_Mutation_p.C116Y|MAPK9_uc003mlv.3_Missense_Mutation_p.C116Y|MAPK9_uc011dgx.1_Missense_Mutation_p.C116Y	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	116	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179696371	179696371	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179696371A>T	uc003mls.3	-	3	432	c.161T>A	c.(160-162)GTC>GAC	p.V54D	MAPK9_uc003mlt.3_Missense_Mutation_p.V54D|MAPK9_uc010jlc.2_Missense_Mutation_p.V54D|MAPK9_uc003mlv.3_Missense_Mutation_p.V54D|MAPK9_uc011dgx.1_Missense_Mutation_p.V54D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	54	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180049752	180049752	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180049752G>A	uc003mma.3	-	12	1715	c.1636C>T	c.(1636-1638)CTC>TTC	p.L546F	FLT4_uc003mlz.3_Missense_Mutation_p.L546F|FLT4_uc003mmb.1_Missense_Mutation_p.L79F|FLT4_uc011dgy.1_Missense_Mutation_p.L546F	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	546	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
OR2Y1	134083	broad.mit.edu	37	5	180166620	180166620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180166620C>T	uc003mmf.1	-	1	439	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219453	180219453	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180219453C>T	uc003mmg.3	-	2	1014	c.519G>A	c.(517-519)CCG>CCA	p.P173P	MGAT1_uc010jlf.2_Silent_p.P173P|MGAT1_uc010jlg.2_Silent_p.P173P|MGAT1_uc003mmh.3_Silent_p.P173P|MGAT1_uc010jlh.2_Silent_p.P173P|MGAT1_uc003mmi.3_Silent_p.P173P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582008	180582008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180582008T>C	uc011dhj.1	+	1	66	c.66T>C	c.(64-66)AGT>AGC	p.S22S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687728	180687728	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180687728G>A	uc003mnp.2	-	1	392	c.87C>T	c.(85-87)GAC>GAT	p.D29D	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	29	RING-type.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)														---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	335142	335142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:335142C>T	uc003msx.2	+	4	606	c.167C>T	c.(166-168)GCG>GTG	p.A56V	DUSP22_uc011dhn.1_Missense_Mutation_p.A56V|DUSP22_uc003msy.1_Missense_Mutation_p.A13V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)														---	---	---	---
IRF4	3662	broad.mit.edu	37	6	405036	405036	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:405036A>G	uc003msz.3	+	8	1231	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H372R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	373					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)				T	IGH@	MM 								---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	486729	486729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:486729C>T	uc003mtd.2	-	28	2851	c.2717G>A	c.(2716-2718)AGC>AAC	p.S906N	EXOC2_uc003mte.2_Missense_Mutation_p.S906N|EXOC2_uc011dho.1_Missense_Mutation_p.S501N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	906					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	532476	532476	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:532476A>T	uc003mtd.2	-	23	2507	c.2373T>A	c.(2371-2373)CCT>CCA	p.P791P	EXOC2_uc003mte.2_Silent_p.P791P|EXOC2_uc011dho.1_Silent_p.P386P	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	791					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	564541	564541	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:564541T>A	uc003mtd.2	-						EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773			Sec5 protein						exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---
GMDS	2762	broad.mit.edu	37	6	1960171	1960171	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1960171C>T	uc003mtq.2	-	6	763	c.573G>A	c.(571-573)GTG>GTA	p.V191V		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	191					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)														---	---	---	---
MYLK4	340156	broad.mit.edu	37	6	2680510	2680510	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2680510A>G	uc003mty.3	-	8	1000	c.703T>C	c.(703-705)TGT>CGT	p.C235R	MYLK4_uc003mtx.3_5'Flank	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	235	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)																---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2954826	2954826	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2954826C>A	uc003muk.2	-	3	2425	c.430G>T	c.(430-432)GGT>TGT	p.G144C	SERPINB6_uc003mui.2_Missense_Mutation_p.G27C|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G144C|SERPINB6_uc003mum.2_Missense_Mutation_p.G144C|SERPINB6_uc003mun.2_Missense_Mutation_p.G144C|SERPINB6_uc003muo.2_Missense_Mutation_p.G144C	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	144					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)													---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850883	3850883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850883G>T	uc003mvu.2	+	2	950	c.838G>T	c.(838-840)GCC>TCC	p.A280S		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	280						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4031897	4031897	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4031897A>G	uc003mvv.2	+	2	237	c.146A>G	c.(145-147)AAA>AGA	p.K49R	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	49	His-rich.|Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032892	4032892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032892T>C	uc003mvv.2	+	2	1232	c.1141T>C	c.(1141-1143)TCC>CCC	p.S381P	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	381	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4053072	4053072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4053072A>G	uc003mvv.2	+	11	2522	c.2431A>G	c.(2431-2433)ATC>GTC	p.I811V	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	811	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4716115	4716115	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4716115G>A	uc003mwi.2	+	2	234	c.103G>A	c.(103-105)GTG>ATG	p.V35M		NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	35					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4892095	4892095	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4892095G>A	uc003mwi.2	+	4	466	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CDYL_uc003mwj.2_Missense_Mutation_p.R58H|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	112	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5613496	5613496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5613496C>T	uc010jnv.1	+	6	1496	c.1160C>T	c.(1159-1161)ACA>ATA	p.T387I	FARS2_uc003mwr.2_Missense_Mutation_p.T387I	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	387	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)													---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7374252	7374252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7374252G>A	uc003mxi.2	-	4	1113	c.392C>T	c.(391-393)ACT>ATT	p.T131I	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T22I|CAGE1_uc003mxk.1_Missense_Mutation_p.T22I	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	267											0	Ovarian(93;0.0418)																	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7571730	7571730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7571730C>T	uc003mxp.1	+	14	2095	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	DSP_uc003mxq.1_Missense_Mutation_p.R606W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	606	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7580889	7580889	+	Missense_Mutation	SNP	T	C	C	rs143380327		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7580889T>C	uc003mxp.1	+	23	4745	c.4466T>C	c.(4465-4467)CTG>CCG	p.L1489P	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1489	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584584	7584584	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7584584C>T	uc003mxp.1	+	24	7368	c.7089C>T	c.(7087-7089)CAC>CAT	p.H2363H	DSP_uc003mxq.1_Silent_p.H1764H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2363	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SLC35B3	51000	broad.mit.edu	37	6	8428191	8428191	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8428191A>G	uc010joe.2	-	4	564	c.398T>C	c.(397-399)CTT>CCT	p.L133P	SLC35B3_uc003mya.2_Missense_Mutation_p.L101P|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L133P|SLC35B3_uc011did.1_Missense_Mutation_p.L133P|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	133	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)																	---	---	---	---
C6orf218	221718	broad.mit.edu	37	6	10430275	10430275	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10430275T>C	uc003myz.2	-	3		c.761A>G				NR_027793				Homo sapiens chromosome 6 open reading frame 218, mRNA (cDNA clone IMAGE:3917693).												0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.124)														OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAK1IP1	55003	broad.mit.edu	37	6	10709645	10709645	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10709645A>G	uc003mzg.2	+	10	1170	c.1139A>G	c.(1138-1140)GAA>GGA	p.E380G		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	380					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10796316	10796316	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10796316A>G	uc003mzl.2	-	8	1287	c.1058T>C	c.(1057-1059)CTG>CCG	p.L353P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L353P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10802142	10802142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10802142G>A	uc003mzl.2	-	7	1043	c.814C>T	c.(814-816)CGA>TGA	p.R272*	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Nonsense_Mutation_p.R272*|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	272	Protein kinase.		R -> P (in a breast infiltrating ductal carcinoma sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R272P(2)		breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)														OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ELOVL2	54898	broad.mit.edu	37	6	10989995	10989995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10989995T>C	uc003mzp.3	-	7	867	c.706A>G	c.(706-708)ATC>GTC	p.I236V		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	236	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191156	11191156	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11192566	11192566	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11192566T>C	uc003mzv.2	-						NEDD9_uc010joz.2_Intron|NEDD9_uc003mzw.3_Intron	NM_006403	NP_006394			neural precursor cell expressed, developmentally						actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11565992	11565992	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11565992A>T	uc010jpa.2	+	2	191	c.191A>T	c.(190-192)CAT>CTT	p.H64L		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	64	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13588569	13588569	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13588569C>G	uc003nay.2	+	4	418	c.122C>G	c.(121-123)GCA>GGA	p.A41G	SIRT5_uc003naw.2_Missense_Mutation_p.A41G|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.A41G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	41	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13634706	13634706	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13634706G>A	uc003nbb.2	-	11	1811	c.1752C>T	c.(1750-1752)AGC>AGT	p.S584S	RANBP9_uc003nba.2_Silent_p.S243S	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	584					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)															---	---	---	---
CCDC90A	63933	broad.mit.edu	37	6	13802559	13802559	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13802559T>C	uc003nbd.2	-	3	683	c.555A>G	c.(553-555)GCA>GCG	p.A185A	CCDC90A_uc010jpf.2_RNA	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	coiled-coil domain containing 90A precursor	185						integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496890	15496890	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15496890A>G	uc003nbj.2	+	7	1678	c.1434A>G	c.(1432-1434)AGA>AGG	p.R478R	JARID2_uc011diu.1_Silent_p.R342R|JARID2_uc011div.1_Silent_p.R306R|JARID2_uc011diw.1_Silent_p.R440R	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	478					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15501302	15501302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15501302T>C	uc003nbj.2	+	8	2354	c.2110T>C	c.(2110-2112)TAC>CAC	p.Y704H	JARID2_uc011div.1_Missense_Mutation_p.Y532H|JARID2_uc011diw.1_Missense_Mutation_p.Y666H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	704	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15512570	15512570	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15512570C>T	uc003nbj.2	+	14	3328	c.3084C>T	c.(3082-3084)ACC>ACT	p.T1028T	JARID2_uc011div.1_Silent_p.T856T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1028	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
DTNBP1	84062	broad.mit.edu	37	6	15523311	15523311	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15523311G>T	uc003nbm.2	-	10	1122	c.951C>A	c.(949-951)CCC>CCA	p.P317P	DTNBP1_uc003nbl.2_Silent_p.P236P|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	317	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)											Hermansky-Pudlak_syndrome				---	---	---	---
GMPR	2766	broad.mit.edu	37	6	16279053	16279053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16279053T>C	uc003nbs.2	+	6	700	c.586T>C	c.(586-588)TAC>CAC	p.Y196H		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	196					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)																---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16307007	16307007	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16307007C>T	uc003nbt.2	-	9	2972	c.2001G>A	c.(1999-2001)CAG>CAA	p.Q667Q	ATXN1_uc010jpi.2_Silent_p.Q667Q|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	667	Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)																---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292149	17292149	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17292149T>C	uc003nbz.3	+	4	514	c.510T>C	c.(508-510)GCT>GCC	p.A170A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A112A|RBM24_uc003nca.2_Silent_p.A125A|RBM24_uc011diy.1_Missense_Mutation_p.L84P|RBM24_uc011diz.1_Missense_Mutation_p.L69P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	170	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17626268	17626268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17626268A>G	uc003ncd.1	-	19	3872	c.3672T>C	c.(3670-3672)GCT>GCC	p.A1224A	NUP153_uc011dje.1_Silent_p.A1255A|NUP153_uc010jpl.1_Silent_p.A1182A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1224					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17632925	17632925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17632925A>G	uc003ncd.1	-	17	2815	c.2615T>C	c.(2614-2616)TTG>TCG	p.L872S	NUP153_uc011dje.1_Missense_Mutation_p.L903S|NUP153_uc010jpl.1_Missense_Mutation_p.L830S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	872	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637492	17637492	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637492A>C	uc003ncd.1	-	16	2556	c.2356T>G	c.(2356-2358)TTT>GTT	p.F786V	NUP153_uc011dje.1_Missense_Mutation_p.F817V|NUP153_uc010jpl.1_Missense_Mutation_p.F744V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	786					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637537	17637537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17637537T>A	uc003ncd.1	-	16	2511	c.2311A>T	c.(2311-2313)ACT>TCT	p.T771S	NUP153_uc011dje.1_Missense_Mutation_p.T802S|NUP153_uc010jpl.1_Missense_Mutation_p.T729S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	771					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17764724	17764724	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17764724T>C	uc003ncg.3	-	39	5140	c.5035A>G	c.(5035-5037)AGC>GGC	p.S1679G	KIF13A_uc003ncf.2_Missense_Mutation_p.S1631G|KIF13A_uc003nch.3_Missense_Mutation_p.S1644G|KIF13A_uc003nci.3_Missense_Mutation_p.S1631G|KIF13A_uc003nce.1_Missense_Mutation_p.S230G	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1679					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---
NHLRC1	378884	broad.mit.edu	37	6	18122144	18122144	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18122144T>C	uc003ncl.1	-	1	708	c.694A>G	c.(694-696)ACT>GCT	p.T232A		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	232	NHL 3.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)															---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18217973	18217973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18217973G>A	uc003nco.1	+	14	1708	c.1633G>A	c.(1633-1635)GAT>AAT	p.D545N	KDM1B_uc003ncn.1_Missense_Mutation_p.D516N|KDM1B_uc003ncp.1_Missense_Mutation_p.D101N|KDM1B_uc003ncq.1_Missense_Mutation_p.D101N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	748					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1																		---	---	---	---
RNF144B	255488	broad.mit.edu	37	6	18465249	18465249	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18465249G>A	uc003ncs.2	+	8	1167	c.863G>A	c.(862-864)TGC>TAC	p.C288Y		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	288					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20483131	20483131	+	Silent	SNP	C	T	T	rs139915140		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20483131C>T	uc003nda.2	+	4	1191	c.864C>T	c.(862-864)ACC>ACT	p.T288T	E2F3_uc003ncz.2_Silent_p.T282T	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	288	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20490487	20490487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20490487G>A	uc003nda.2	+	7	1551	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	408	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)															---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178686	24178686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178686G>A	uc003ndx.2	-	9	1500	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	DCDC2_uc003ndy.2_Missense_Mutation_p.R400C|DCDC2_uc003ndw.2_Missense_Mutation_p.R151C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178771	24178771	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178771A>G	uc003ndx.2	-	9	1415	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	DCDC2_uc003ndy.2_Silent_p.G371G|DCDC2_uc003ndw.2_Silent_p.G122G	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	371					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24436855	24436855	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24436855A>G	uc003ned.1	-	22	2418	c.2307T>C	c.(2305-2307)GGT>GGC	p.G769G		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	769	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24463015	24463015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24463015T>C	uc003ned.1	-	11	941	c.830A>G	c.(829-831)AAC>AGC	p.N277S	GPLD1_uc010jpr.1_Missense_Mutation_p.N114S|GPLD1_uc010jps.1_Missense_Mutation_p.N277S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	277						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24850864	24850864	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24850864T>C	uc003neo.1	-	10	935	c.759A>G	c.(757-759)ACA>ACG	p.T253T	FAM65B_uc011djs.1_Silent_p.T282T|FAM65B_uc011dju.1_Silent_p.T287T|FAM65B_uc003nep.2_Silent_p.T253T|FAM65B_uc011djt.1_Silent_p.T253T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	253					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1																		---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25600765	25600765	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25600765G>A	uc011djw.1	+	33	3719	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	LRRC16A_uc010jpx.2_Missense_Mutation_p.E1115K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1115K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1115					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726369	25726369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726369T>C	uc003nfc.2	-	1	422	c.387A>G	c.(385-387)CAA>CAG	p.Q129Q	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	129					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25819947	25819947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25819947C>T	uc003nfh.3	-	4	520	c.404G>A	c.(403-405)TGG>TAG	p.W135*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.W133*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.W133*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	135	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983804	25983804	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25983804T>A	uc003nfm.2	+	8	1722	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	TRIM38_uc003nfn.2_Missense_Mutation_p.N411K|TRIM38_uc010jqd.2_Missense_Mutation_p.N65K	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	429	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---
HIST1H3C	8352	broad.mit.edu	37	6	26045888	26045888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26045888C>T	uc003nfv.2	+	1	250	c.250C>T	c.(250-252)CGT>TGT	p.R84C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	84					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056483	26056483	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26056483A>T	uc003nfw.2	-	1	217	c.174T>A	c.(172-174)TCT>TCA	p.S58S		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	58	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5																		---	---	---	---
HIST1H2BC	8347	broad.mit.edu	37	6	26123956	26123956	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26123956G>T	uc003ngk.3	-	1	199	c.177C>A	c.(175-177)GCC>GCA	p.A59A	HIST1H2BC_uc003ngl.2_Silent_p.A59A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	59					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1																		---	---	---	---
HIST1H4D	8360	broad.mit.edu	37	6	26189068	26189068	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26189068G>A	uc003ngu.2	-	1	237	c.237C>T	c.(235-237)CGC>CGT	p.R79R		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	79					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200153	26200153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26200153A>T	uc003ngx.2	+	1	367	c.367A>T	c.(367-369)ACC>TCC	p.T123S	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217403	26217403	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26217403T>A	uc003nha.1	+	1	256	c.201T>A	c.(199-201)GCT>GCA	p.A67A	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	67					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)																---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26235016	26235016	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26235016A>G	uc003nhd.2	-	1	201	c.146T>C	c.(145-147)GTG>GCG	p.V49A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)																---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393114	26393114	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26393114T>C	uc003nhq.2	+	8	1577	c.1491T>C	c.(1489-1491)CCT>CCC	p.P497P	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Silent_p.P381P|BTN2A2_uc011dkh.1_Silent_p.P287P|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Silent_p.P497P|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	497	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0																		---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26405878	26405878	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26405878T>C	uc003nhv.2	+	2	453	c.85_splice	c.e2+2	p.A29_splice	BTN3A1_uc011dkj.1_Splice_Site_p.A29_splice|BTN3A1_uc011dkk.1_Splice_Site_p.A29_splice|BTN3A1_uc010jqj.2_Splice_Site_p.A29_splice	NM_007048	NP_008979			butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783212	27783212	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27783212T>C	uc003njo.2	+	1					HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512			histone cluster 1, H2bm						nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834982	27834982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27834982T>C	uc003njx.2	-	1	378	c.326A>G	c.(325-327)AAA>AGA	p.K109R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835025	27835025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27835025T>C	uc003njx.2	-	1	335	c.283A>G	c.(283-285)ACC>GCC	p.T95A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	95	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879120	27879120	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27879120T>G	uc011dkw.1	-	1	978	c.978A>C	c.(976-978)ACA>ACC	p.T326T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	326	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056987	28056987	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28056987C>A	uc003nkg.2	+	5	2281	c.1197C>A	c.(1195-1197)CCC>CCA	p.P399P	ZNF165_uc003nkh.2_Silent_p.P399P|ZNF165_uc003nki.3_Silent_p.P399P|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	399					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28268774	28268774	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28268774G>T	uc003nky.2	+	7	1513	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	PGBD1_uc003nkz.2_Missense_Mutation_p.K381N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	381					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4																		---	---	---	---
ZNF323	64288	broad.mit.edu	37	6	28294205	28294205	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28294205T>C	uc003nla.2	-	4	1359	c.959A>G	c.(958-960)GAA>GGA	p.E320G	ZNF323_uc003nld.2_Missense_Mutation_p.E320G|ZNF323_uc010jra.2_Missense_Mutation_p.E320G|ZNF323_uc003nlb.2_Missense_Mutation_p.E161G|ZNF323_uc010jrb.2_Missense_Mutation_p.E161G|ZNF323_uc003nlc.2_Missense_Mutation_p.E320G	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327716	28327716	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28327716T>C	uc003nle.3	+	2	569	c.353T>C	c.(352-354)GTG>GCG	p.V118A	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.V118A|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	118	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---
SCAND3	114821	broad.mit.edu	37	6	28554087	28554087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28554087T>A	uc003nlo.2	-	1	1026	c.408A>T	c.(406-408)GAA>GAT	p.E136D	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	136					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29079854	29079854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29079854T>C	uc011dll.1	+	1	187	c.187T>C	c.(187-189)TAC>CAC	p.Y63H		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29394945	29394945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29394945T>C	uc003nmg.2	-	1	565	c.474A>G	c.(472-474)GGA>GGG	p.G158G		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29576503	29576503	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29576503G>T	uc003nmt.3	-	16	2203	c.1867C>A	c.(1867-1869)CAG>AAG	p.Q623K	GABBR1_uc003nmp.3_Missense_Mutation_p.Q506K|GABBR1_uc003nms.3_Missense_Mutation_p.Q506K|GABBR1_uc003nmu.3_Missense_Mutation_p.Q561K|GABBR1_uc011dlr.1_Missense_Mutation_p.Q446K|GABBR1_uc011dls.1_Silent_p.S572S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	623	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
ZFP57	346171	broad.mit.edu	37	6	29643256	29643256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29643256A>G	uc011dlw.1	-	3	410	c.259T>C	c.(259-261)TTT>CTT	p.F87L	ZFP57_uc003nnl.3_Missense_Mutation_p.F67L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	59	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043021	30043021	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043021G>A	uc003npe.2	-	1	608	c.546C>T	c.(544-546)GGC>GGT	p.G182G	RNF39_uc003npd.2_Silent_p.G182G	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	182						cytoplasm	zinc ion binding				0																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30043550	30043550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30043550A>G	uc003npe.2	-	1	79	c.17T>C	c.(16-18)TTG>TCG	p.L6S	RNF39_uc003npd.2_Missense_Mutation_p.L6S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	6						cytoplasm	zinc ion binding				0																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30514577	30514577	+	Missense_Mutation	SNP	G	A	A	rs141407258	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30514577G>A	uc003nqh.2	-	11	2506	c.1478C>T	c.(1477-1479)GCG>GTG	p.A493V	GNL1_uc011dmi.1_Missense_Mutation_p.A290V|GNL1_uc011dmj.1_Missense_Mutation_p.A491V|GNL1_uc011dmk.1_Missense_Mutation_p.A148V	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	493					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30515059	30515059	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30515059A>G	uc003nqh.2	-						GNL1_uc011dmi.1_Intron|GNL1_uc011dmj.1_Intron|GNL1_uc011dmk.1_Intron	NM_005275	NP_005266			guanine nucleotide binding protein-like 1						response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30523965	30523965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30523965G>A	uc003nqh.2	-	1	1044	c.16C>T	c.(16-18)CCA>TCA	p.P6S	GNL1_uc011dmi.1_5'Flank|GNL1_uc011dmj.1_5'Flank|GNL1_uc011dmk.1_5'UTR|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	6					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569986	30569986	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30569986G>A	uc003nqn.1	-	19	2992	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	PPP1R10_uc010jsc.1_Missense_Mutation_p.R468C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	814	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30571905	30571905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30571905C>T	uc003nqn.1	-	14	1940	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	PPP1R10_uc010jsc.1_Missense_Mutation_p.C117Y	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	463	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572227	30572227	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30572227T>C	uc003nqn.1	-	13	1716	c.1164A>G	c.(1162-1164)CAA>CAG	p.Q388Q	PPP1R10_uc010jsc.1_Silent_p.Q42Q	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	388	Necessary for interaction with PPP1CA (By similarity).|Essential for PPP1CA inhibition (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
MRPS18B	28973	broad.mit.edu	37	6	30587523	30587523	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30587523T>C	uc003nqo.2	+	3	382	c.225T>C	c.(223-225)GCT>GCC	p.A75A	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Silent_p.A75A|MRPS18B_uc010jsd.1_Silent_p.A75A	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	75					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1																		---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30630513	30630513	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30630513A>G	uc003nqz.2	-	9	1647	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.Y419H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	479	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4																		---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30671508	30671508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30671508T>C	uc003nrg.3	-	10	5892	c.5452A>G	c.(5452-5454)ATG>GTG	p.M1818V	MDC1_uc003nrf.3_Missense_Mutation_p.M449V|MDC1_uc011dmp.1_Missense_Mutation_p.M1425V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1818	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675399	30675399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30675399G>A	uc003nrg.3	-	8	3397	c.2957C>T	c.(2956-2958)TCT>TTT	p.S986F	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	986				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30890980	30890980	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30890980A>T	uc003nsc.1	+	23	2917	c.2285A>T	c.(2284-2286)GAG>GTG	p.E762V	VARS2_uc011dmx.1_Missense_Mutation_p.E762V|VARS2_uc011dmy.1_Missense_Mutation_p.E622V|VARS2_uc011dmz.1_Missense_Mutation_p.E792V|VARS2_uc011dna.1_Missense_Mutation_p.E760V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.E200V|VARS2_uc010jsg.1_Missense_Mutation_p.E134V|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	762					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31116476	31116476	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31116476G>A	uc003nsr.3	-	9	1248	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	CCHCR1_uc011dne.1_Silent_p.S375S|CCHCR1_uc003nsq.3_Silent_p.S428S|CCHCR1_uc003nsp.3_Silent_p.S464S|CCHCR1_uc010jsk.1_Silent_p.S375S	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	375	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1																		---	---	---	---
TCF19	6941	broad.mit.edu	37	6	31130321	31130321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31130321G>A	uc003nss.2	+	4	1389	c.865G>A	c.(865-867)GGG>AGG	p.G289R	TCF19_uc003nst.2_Missense_Mutation_p.G289R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	289	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
LTA	4049	broad.mit.edu	37	6	31540749	31540749	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31540749C>A	uc011dnu.1	+	3	357	c.144C>A	c.(142-144)GCC>GCA	p.A48A	LTA_uc003nue.1_Silent_p.A48A|LTA_uc003nuf.2_RNA|LTA_uc003nuh.2_5'UTR|LTA_uc003nug.2_5'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	48					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541079	31541079	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31541079C>T	uc011dnu.1	+	4	440	c.227C>T	c.(226-228)TCA>TTA	p.S76L	LTA_uc003nue.1_Missense_Mutation_p.S76L|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23L|LTA_uc003nug.2_Missense_Mutation_p.S23L|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	76					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31593291	31593291	+	Missense_Mutation	SNP	C	A	A	rs144276631		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31593291C>A	uc003nvb.3	+	7	911	c.662C>A	c.(661-663)CCG>CAG	p.P221Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.P221Q|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	221	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31600367	31600367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31600367C>T	uc003nvb.3	+	16	4166	c.3917C>T	c.(3916-3918)TCT>TTT	p.S1306F	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S1306F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1306	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31602965	31602965	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31602965G>T	uc003nvb.3	+	22	5466	c.5217G>T	c.(5215-5217)CAG>CAT	p.Q1739H	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.Q1739H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1739	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
BAT3	7917	broad.mit.edu	37	6	31611972	31611972	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31611972C>A	uc003nvg.3	-	12	1780	c.1466_splice	c.e12-1	p.G489_splice	BAT3_uc003nvf.3_Splice_Site_p.G483_splice|BAT3_uc003nvh.3_Splice_Site_p.G483_splice|BAT3_uc003nvi.3_Splice_Site_p.G483_splice|BAT3_uc011dnw.1_Splice_Site_p.G483_splice|BAT3_uc011dnx.1_Splice_Site_p.G483_splice	NM_004639	NP_004630			HLA-B associated transcript-3 isoform a						apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0																		---	---	---	---
C6orf47	57827	broad.mit.edu	37	6	31627032	31627032	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31627032C>G	uc003nvm.1	-	1	1518	c.693G>C	c.(691-693)GGG>GGC	p.G231G		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	231										ovary(1)	1																		---	---	---	---
VARS	7407	broad.mit.edu	37	6	31747231	31747231	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31747231T>A	uc003nxe.2	-	28	3794	c.3371A>T	c.(3370-3372)GAC>GTC	p.D1124V	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.D61V	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---
C6orf48	50854	broad.mit.edu	37	6	31805219	31805219	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31805219A>G	uc003rjx.1	+						C6orf48_uc003rjy.1_Intron|C6orf48_uc003rjz.1_Intron	NM_001040437	NP_001035527			G8 protein												0																		---	---	---	---
CFB	629	broad.mit.edu	37	6	31914250	31914250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31914250C>T	uc003nyj.3	+	2	443	c.165C>T	c.(163-165)GGC>GGT	p.G55G	CFB_uc011dor.1_Silent_p.G557G|CFB_uc011dos.1_Silent_p.G55G|CFB_uc003nyi.2_Silent_p.G55G	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963556	31963556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963556G>A	uc011doy.1	+	25	3266	c.3215G>A	c.(3214-3216)CGG>CAG	p.R1072Q	C4A_uc011doz.1_Missense_Mutation_p.R1072Q	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
C4A	720	broad.mit.edu	37	6	31963570	31963570	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31963570T>C	uc011doy.1	+	25	3280	c.3229T>C	c.(3229-3231)TGG>CGG	p.W1077R	C4A_uc011doz.1_Missense_Mutation_p.W1077R	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1077					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017118	32017118	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32017118T>C	uc003nzl.2	-	28	9882	c.9680A>G	c.(9679-9681)AAA>AGA	p.K3227R	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3274	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32021419	32021419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32021419C>T	uc003nzl.2	-	25	8733	c.8531G>A	c.(8530-8532)CGC>CAC	p.R2844H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2893	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32046840	32046840	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32046840C>T	uc003nzl.2	-	11	4547	c.4345G>A	c.(4345-4347)GTG>ATG	p.V1449M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1536	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32064256	32064256	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32064256G>A	uc003nzl.2	-	3	1576	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	458	EGF-like 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32065914	32065914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32065914G>A	uc003nzl.2	-	2	264	c.62C>T	c.(61-63)GCC>GTC	p.A21V	TNXB_uc010jts.1_Missense_Mutation_p.A20V|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	21					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155497	32155497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32155497T>C	uc003oav.1	-	5	1068	c.797A>G	c.(796-798)CAC>CGC	p.H266R	PBX2_uc003oaw.2_Missense_Mutation_p.H266R	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	266	Homeobox; TALE-type.						transcription factor binding			ovary(1)	1																		---	---	---	---
HLA-DRA	3122	broad.mit.edu	37	6	32410334	32410334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32410334G>A	uc003obh.2	+	2	273	c.192G>A	c.(190-192)AAG>AAA	p.K64K	HLA-DRA_uc003obi.2_Silent_p.K64K	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	64	Extracellular (Potential).|Alpha-1.			K -> L (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2														T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782325	32782325	+	Missense_Mutation	SNP	T	A	A	rs139684832		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782325T>A	uc011dqf.1	-	14	2358	c.2236A>T	c.(2236-2238)AAT>TAT	p.N746Y	HLA-DOB_uc003oca.2_Missense_Mutation_p.N139Y|HLA-DOB_uc011dqg.1_Missense_Mutation_p.N139Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32782846	32782846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32906545	32906545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32906545T>C	uc003ocl.1	-	2	486	c.253A>G	c.(253-255)ACC>GCC	p.T85A	HLA-DMB_uc003ocj.1_Missense_Mutation_p.T85A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.T85A	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	85	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32944082	32944082	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32944082A>G	uc003ocn.3	+	6	2367	c.666A>G	c.(664-666)TCA>TCG	p.S222S	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.S222S|BRD2_uc003ocp.3_Silent_p.S102S|BRD2_uc010juh.2_Silent_p.S222S	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	222					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32947622	32947622	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32947622C>G	uc003ocn.3	+	11	3560	c.1859C>G	c.(1858-1860)ACA>AGA	p.T620R	BRD2_uc003ocq.3_Missense_Mutation_p.T620R|BRD2_uc003ocp.3_Missense_Mutation_p.T500R|BRD2_uc010juh.2_Missense_Mutation_p.T655R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	620					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5																		---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975164	32975164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32975164G>A	uc003ocr.2	-	3	613	c.537C>T	c.(535-537)TTC>TTT	p.F179F	HLA-DOA_uc010juj.2_Silent_p.F149F|HLA-DOA_uc010jui.2_Silent_p.F179F	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	179	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133401	33133401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133401G>A	uc003ocx.1	-	63	4903	c.4675C>T	c.(4675-4677)CGG>TGG	p.R1559W	COL11A2_uc010jul.1_Missense_Mutation_p.R129W|COL11A2_uc003ocy.1_Missense_Mutation_p.R1473W|COL11A2_uc003ocz.1_Missense_Mutation_p.R1452W	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1559	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133486	33133486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33133486G>A	uc003ocx.1	-	63	4818	c.4590C>T	c.(4588-4590)ACC>ACT	p.T1530T	COL11A2_uc010jul.1_Silent_p.T100T|COL11A2_uc003ocy.1_Silent_p.T1444T|COL11A2_uc003ocz.1_Silent_p.T1423T	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1530					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---
RING1	6015	broad.mit.edu	37	6	33177443	33177443	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33177443G>A	uc003odk.2	+	3	313	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	RING1_uc011dqw.1_3'UTR|RING1_uc011dqx.1_Missense_Mutation_p.R40Q|RING1_uc003odl.2_Missense_Mutation_p.R11Q	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	40	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245430	33245430	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245430C>T	uc003odr.2	+	1	514	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	78	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245707G>A	uc003odr.2	+	1	791	c.511G>A	c.(511-513)GTC>ATC	p.V171I		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33247573	33247573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33247573C>T	uc003ods.2	-	13	1632	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K	WDR46_uc011dra.1_Missense_Mutation_p.E476K	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	530											0																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33365928	33365928	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33365928C>T	uc003oef.3	+	2	585	c.135C>T	c.(133-135)GGC>GGT	p.G45G	KIFC1_uc011drf.1_Silent_p.G45G|uc011drg.1_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	45					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33641390	33641390	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33641390A>T	uc011drk.1	+	23	3170	c.2951A>T	c.(2950-2952)GAT>GTT	p.D984V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	984	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33648175	33648175	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33648175T>C	uc011drk.1	+	32	4513	c.4294T>C	c.(4294-4296)TAC>CAC	p.Y1432H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1432	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
C6orf125	84300	broad.mit.edu	37	6	33669177	33669177	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33669177A>G	uc003ofa.1	-	2	200	c.159T>C	c.(157-159)TGT>TGC	p.C53C	C6orf125_uc003oez.1_5'Flank|C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	53											0																		---	---	---	---
LEMD2	221496	broad.mit.edu	37	6	33746099	33746099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33746099G>A	uc011drm.1	-	6	1089	c.1076C>T	c.(1075-1077)GCC>GTC	p.A359V	LEMD2_uc010jvg.2_Missense_Mutation_p.A68V|LEMD2_uc011drl.1_Missense_Mutation_p.A57V|LEMD2_uc003ofe.2_Missense_Mutation_p.A57V	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	359						integral to nuclear inner membrane				central_nervous_system(1)	1																		---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008103	34008103	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34008103G>A	uc003oir.3	-						GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Intron|GRM4_uc010jvi.2_Intron|GRM4_uc003oio.2_Intron|GRM4_uc003oip.2_Intron|GRM4_uc011dsl.1_Intron|GRM4_uc003oiq.2_Intron|GRM4_uc011dsm.1_Intron	NM_000841	NP_000832			glutamate receptor, metabotropic 4 precursor						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34495114	34495114	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34495114G>A	uc003ojo.2	+	3	275	c.69G>A	c.(67-69)GGG>GGA	p.G23G	PACSIN1_uc003ojp.2_Silent_p.G23G	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	23	FCH.				endocytosis		protein kinase activity				0																OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C6orf106	64771	broad.mit.edu	37	6	34574322	34574322	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34574322G>T	uc003ojr.2	-						C6orf106_uc003ojs.2_Intron	NM_024294	NP_077270			chromosome 6 open reading frame 106 isoform a											skin(2)|ovary(1)	3																		---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826075	34826075	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34826075T>C	uc003oju.3	+	14	2176	c.1942T>C	c.(1942-1944)TAT>CAT	p.Y648H	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	648										ovary(3)	3																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34935065	34935065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34935065C>T	uc003ojx.3	+	2	389	c.247C>T	c.(247-249)CCC>TCC	p.P83S	ANKS1A_uc011dss.1_Missense_Mutation_p.P83S|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	83	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985579	34985579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34985579A>G	uc003ojx.3	+	11	1895	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.T125A|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	585						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
STK38	11329	broad.mit.edu	37	6	36465624	36465624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36465624C>T	uc003omg.2	-	11	1693	c.1105G>A	c.(1105-1107)GGA>AGA	p.G369R	STK38_uc003omh.2_Missense_Mutation_p.G369R|STK38_uc003omi.2_Missense_Mutation_p.G369R	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	369	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38256037	38256037	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38256037A>T	uc003ooa.3	-						BTBD9_uc003ony.3_Intron|BTBD9_uc010jwv.2_Intron|BTBD9_uc010jww.2_Intron|BTBD9_uc010jwx.2_Intron	NM_052893	NP_443125			BTB (POZ) domain containing 9 isoform a						cell adhesion						0																		---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38560367	38560367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38560367A>G	uc003ooa.3	-	5	1375	c.799T>C	c.(799-801)TAT>CAT	p.Y267H	BTBD9_uc003ony.3_Missense_Mutation_p.Y199H|BTBD9_uc010jwv.2_Missense_Mutation_p.Y199H|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.Y267H	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	267					cell adhesion						0																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38690609	38690609	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38690609C>T	uc003ooe.1	+	1					DNAH8_uc003ood.1_Silent_p.G8G	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38738194	38738194	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38738194C>T	uc003ooe.1	+	10	1572	c.972C>T	c.(970-972)TGC>TGT	p.C324C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813476	38813476	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38813476G>T	uc003ooe.1	+	34	4921	c.4321G>T	c.(4321-4323)GGA>TGA	p.G1441*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38858521	38858521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38858521T>C	uc003ooe.1	+	56	8516	c.7916T>C	c.(7915-7917)CTG>CCG	p.L2639P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563911	39563911	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563911C>A	uc003oot.2	-	7	860	c.765G>T	c.(763-765)GAG>GAT	p.E255D	KIF6_uc010jxa.1_Missense_Mutation_p.E46D|KIF6_uc011dua.1_Missense_Mutation_p.E255D|KIF6_uc010jxb.1_Missense_Mutation_p.E255D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	255	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39563941	39563941	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39563941T>C	uc003oot.2	-	7	830	c.735A>G	c.(733-735)AAA>AAG	p.K245K	KIF6_uc010jxa.1_Silent_p.K36K|KIF6_uc011dua.1_Silent_p.K245K|KIF6_uc010jxb.1_Silent_p.K245K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	245	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39877611	39877611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39877611G>A	uc003opb.2	-	8	1208	c.1070C>T	c.(1069-1071)GCT>GTT	p.A357V	MOCS1_uc003opa.2_Missense_Mutation_p.A357V|MOCS1_uc003opc.2_Missense_Mutation_p.A357V|MOCS1_uc003opd.2_Missense_Mutation_p.A357V|MOCS1_uc003ope.2_Missense_Mutation_p.A270V	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39880039	39880039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39880039C>T	uc003opb.2	-	7	1088	c.950G>A	c.(949-951)CGC>CAC	p.R317H	MOCS1_uc003opa.2_Missense_Mutation_p.R317H|MOCS1_uc003opc.2_Missense_Mutation_p.R317H|MOCS1_uc003opd.2_Missense_Mutation_p.R317H|MOCS1_uc003ope.2_Missense_Mutation_p.R230H	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
UNC5CL	222643	broad.mit.edu	37	6	40996189	40996189	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40996189T>A	uc003opi.2	-	9	1569	c.1480A>T	c.(1480-1482)ACA>TCA	p.T494S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	494	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)															OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41613964	41613964	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41613964C>A	uc003oqp.3	+	4	506	c.177C>A	c.(175-177)ACC>ACA	p.T59T	MDFI_uc003oqq.3_Silent_p.T59T|MDFI_uc010jxn.2_Silent_p.T59T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	59					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41617445	41617445	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41617445G>T	uc003oqp.3	+	5	677	c.348G>T	c.(346-348)GCG>GCT	p.A116A	MDFI_uc003oqq.3_Silent_p.A116A|MDFI_uc010jxn.2_Silent_p.A116A	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	116					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773764	41773764	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773764C>T	uc003ori.2	-	4	1180	c.958G>A	c.(958-960)GAC>AAC	p.D320N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42225919	42225919	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42225919C>T	uc003osd.2	-	10	2853	c.2290G>A	c.(2290-2292)GTG>ATG	p.V764M	TRERF1_uc011duq.1_Missense_Mutation_p.V681M|TRERF1_uc003osb.2_Missense_Mutation_p.V520M|TRERF1_uc003osc.2_Missense_Mutation_p.V520M|TRERF1_uc003ose.2_Missense_Mutation_p.V784M	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	764	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42562040	42562040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42562040G>T	uc011dur.1	+	4	529	c.529G>T	c.(529-531)GAG>TAG	p.E177*	UBR2_uc003osf.2_Nonsense_Mutation_p.E177*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	177					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42603281	42603281	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42603281A>G	uc011dur.1	+	14	1671	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	UBR2_uc011dus.1_Silent_p.S202S|UBR2_uc010jxv.1_Silent_p.S61S|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	557					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42641876	42641876	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42641876A>C	uc011dur.1	+	38	4196	c.4196A>C	c.(4195-4197)AAT>ACT	p.N1399T	UBR2_uc011dus.1_Missense_Mutation_p.N1044T|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1399					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42647508	42647508	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42647508A>G	uc011dur.1	+	42	4656	c.4656A>G	c.(4654-4656)CTA>CTG	p.L1552L	UBR2_uc011dus.1_Silent_p.L1197L|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.L140L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1552					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
PPP2R5D	5528	broad.mit.edu	37	6	42975254	42975254	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42975254C>T	uc003oth.2	+						MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_Intron|PPP2R5D_uc003oti.2_Intron|PPP2R5D_uc003otj.2_Intron	NM_006245	NP_006236			delta isoform of regulatory subunit B56, protein						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43020464	43020464	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43020464A>G	uc003otq.2	-	2	366	c.63T>C	c.(61-63)TAT>TAC	p.Y21Y	CUL7_uc011dvb.1_Silent_p.Y73Y|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	21					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43022010	43022010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43022010T>C	uc003ots.1	-	7					CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034			mitochondrial ribosomal protein L2 precursor						translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)														---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43039057	43039057	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43039057A>G	uc003otv.1	+	9	1277	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Silent_p.T323T|KLC4_uc003otw.1_Silent_p.T418T|KLC4_uc003otx.1_Silent_p.T400T|KLC4_uc003oty.1_Silent_p.T400T|KLC4_uc003otz.1_Silent_p.T400T	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	400	TPR 6.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)															---	---	---	---
SRF	6722	broad.mit.edu	37	6	43146933	43146933	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43146933C>T	uc003oui.2	+	7					SRF_uc011dvf.1_3'UTR|CUL9_uc003ouj.1_5'Flank|CUL9_uc003ouk.2_5'Flank|CUL9_uc003oul.2_5'Flank|CUL9_uc010jyk.2_5'Flank	NM_003131	NP_003122			serum response factor (c-fos serum response						angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)															---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155142	43155142	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155142C>T	uc003ouk.2	+	6	1621	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.P516S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	516					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155582	43155582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155582G>A	uc003ouk.2	+	7	1788	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K	CUL9_uc003ouj.1_Silent_p.K461K|CUL9_uc003oul.2_Silent_p.K571K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.K29K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	571					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43168555	43168555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43168555C>T	uc003ouk.2	+	16	3705	c.3630C>T	c.(3628-3630)CAC>CAT	p.H1210H	CUL9_uc003oul.2_Silent_p.H1210H|CUL9_uc010jyk.2_Silent_p.H362H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1210	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172842	43172842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43172842A>G	uc003ouk.2	+	23	4696	c.4621A>G	c.(4621-4623)ACT>GCT	p.T1541A	CUL9_uc003oul.2_Missense_Mutation_p.T1541A|CUL9_uc010jyk.2_Missense_Mutation_p.T693A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1541					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43226815	43226815	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43226815G>A	uc003ouq.1	+	11	1335	c.1056G>A	c.(1054-1056)CGG>CGA	p.R352R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	352						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43237375	43237375	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43237375T>G	uc003ouq.1	+						TTBK1_uc011dvg.1_Intron	NM_032538	NP_115927			tau tubulin kinase 1							cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43406490	43406490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43406490A>G	uc003ouy.1	+	8	2299	c.2084A>G	c.(2083-2085)TAC>TGC	p.Y695C	ABCC10_uc003ouz.1_Missense_Mutation_p.Y667C|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	695	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
DLK2	65989	broad.mit.edu	37	6	43418614	43418614	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43418614A>G	uc003ova.2	-	6	1024	c.815T>C	c.(814-816)GTA>GCA	p.V272A	DLK2_uc003ovb.2_Missense_Mutation_p.V272A	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	272	Extracellular (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488739	43488739	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43488739A>T	uc003ovn.2	+	8	932	c.875A>T	c.(874-876)AAG>ATG	p.K292M	POLR1C_uc003ovo.1_Missense_Mutation_p.K292M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43541338	43541338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43541338A>T	uc003ovp.2	-	2	317	c.106T>A	c.(106-108)TTT>ATT	p.F36I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	36	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---
POLH	5429	broad.mit.edu	37	6	43581998	43581998	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43581998G>T	uc003ovq.3	+	11	2150	c.1846G>T	c.(1846-1848)GTG>TTG	p.V616L	POLH_uc010jyu.2_Missense_Mutation_p.V492L|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.V517L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	616					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)										DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				---	---	---	---
GTPBP2	54676	broad.mit.edu	37	6	43591810	43591810	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43591810A>G	uc003ovs.2	-						GTPBP2_uc010jyv.2_Intron|GTPBP2_uc003ovt.1_Intron	NM_019096	NP_061969			GTP binding protein 2								GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)															---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44121530	44121530	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44121530C>T	uc003owr.2	+	21	2124	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	TMEM63B_uc003ows.2_Missense_Mutation_p.A590V|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	687	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)															---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216456	44216456	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44216456T>C	uc003oxa.1	+	2	174	c.90T>C	c.(88-90)AAT>AAC	p.N30N	HSP90AB1_uc011dvr.1_Silent_p.N30N|HSP90AB1_uc003oxb.1_Silent_p.N30N|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	30					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
NFKBIE	4794	broad.mit.edu	37	6	44229356	44229356	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44229356T>C	uc003oxe.1	-							NM_004556	NP_004547			nuclear factor of kappa light polypeptide gene						cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44271037	44271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44271037G>A	uc010jza.1	-	15	2134	c.2131C>T	c.(2131-2133)CGC>TGC	p.R711C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	711					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44279148	44279148	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44279148C>A	uc010jza.1	-	3	563	c.560G>T	c.(559-561)AGG>ATG	p.R187M	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	187					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44320601	44320601	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44320601C>A	uc003oxk.2	+	2	625	c.278C>A	c.(277-279)GCT>GAT	p.A93D	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	93										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371587	44371587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44371587C>T	uc003oxl.2	+	6	840	c.581C>T	c.(580-582)GCT>GTT	p.A194V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	194	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45917038	45917038	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:45917038A>T	uc003oxv.3	-	3	837	c.731T>A	c.(730-732)GTC>GAC	p.V244D	CLIC5_uc003oxu.3_Missense_Mutation_p.V85D|CLIC5_uc003oxx.2_Missense_Mutation_p.V85D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	244					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2																		---	---	---	---
ENPP5	59084	broad.mit.edu	37	6	46129477	46129477	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46129477A>T	uc003oxz.1	-	4	1228	c.1020T>A	c.(1018-1020)GGT>GGA	p.G340G	ENPP5_uc003oya.1_Silent_p.G340G|ENPP5_uc011dvz.1_Silent_p.G246G|ENPP5_uc010jzc.1_Missense_Mutation_p.L342I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	340						extracellular region|integral to membrane	hydrolase activity				0																		---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658498	46658498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658498A>G	uc003oyj.2	+	1	2633	c.2633A>G	c.(2632-2634)CAG>CGG	p.Q878R	TDRD6_uc010jze.2_Missense_Mutation_p.Q872R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	878					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658994	46658994	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658994G>T	uc003oyj.2	+	1	3129	c.3129G>T	c.(3127-3129)AAG>AAT	p.K1043N	TDRD6_uc010jze.2_Missense_Mutation_p.K1037N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1043	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
PLA2G7	7941	broad.mit.edu	37	6	46690512	46690512	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46690512C>T	uc010jzf.2	-						PLA2G7_uc010jzg.1_Intron|PLA2G7_uc011dwd.1_Intron|PLA2G7_uc011dwe.1_Intron	NM_005084	NP_005075			phospholipase A2, group VII						inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46821794	46821794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46821794A>G	uc003oyo.3	-	21	4265	c.3976T>C	c.(3976-3978)TCC>CCC	p.S1326P	GPR116_uc011dwj.1_Missense_Mutation_p.S881P|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S1184P|GPR116_uc003oyq.3_Missense_Mutation_p.S1326P	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1326	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46827202	46827202	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46827202A>C	uc003oyo.3	-	17	2727	c.2438T>G	c.(2437-2439)GTT>GGT	p.V813G	GPR116_uc011dwj.1_Missense_Mutation_p.V368G|GPR116_uc011dwk.1_Missense_Mutation_p.V242G|GPR116_uc003oyp.3_Missense_Mutation_p.V671G|GPR116_uc003oyq.3_Missense_Mutation_p.V813G|GPR116_uc010jzi.1_Missense_Mutation_p.V485G	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	813	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46851907	46851907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46851907C>T	uc003oyo.3	-	5	719	c.430G>A	c.(430-432)GTC>ATC	p.V144I	GPR116_uc003oyp.3_Missense_Mutation_p.V144I|GPR116_uc003oyq.3_Missense_Mutation_p.V144I|GPR116_uc003oyr.2_Missense_Mutation_p.V144I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	144	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977420	46977420	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46977420A>G	uc003oyt.2	-	11	1950	c.1751T>C	c.(1750-1752)GTT>GCT	p.V584A	GPR110_uc011dwl.1_Missense_Mutation_p.V272A	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47254265	47254265	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47254265G>A	uc003oyv.2	-	2	596	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	55	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)															---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47675983	47675983	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47675983T>C	uc003oza.1	+	3	375	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GPR115_uc003oyz.1_Silent_p.P96P|GPR115_uc003ozb.1_Silent_p.P37P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	39	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8																		---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49676859	49676859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49676859T>C	uc003ozq.2	-	4	307	c.51A>G	c.(49-51)TTA>TTG	p.L17L	CRISP2_uc003ozl.2_Silent_p.L17L|CRISP2_uc003ozn.2_Silent_p.L17L|CRISP2_uc003ozr.2_Silent_p.L17L|CRISP2_uc003ozo.2_Silent_p.L17L|CRISP2_uc003ozm.2_Silent_p.L17L|CRISP2_uc003ozp.2_Silent_p.L17L	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	17						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50681799	50681799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50681799G>A	uc003paf.2	+	1	543	c.31G>A	c.(31-33)GAT>AAT	p.D11N	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	11							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50796364	50796364	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50796364T>A	uc003pag.2	+	3	739	c.573T>A	c.(571-573)AAT>AAA	p.N191K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	191					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51619589	51619589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51619589C>T	uc003pah.1	-	56	9066	c.8790G>A	c.(8788-8790)CGG>CGA	p.R2930R	PKHD1_uc010jzn.1_Silent_p.R913R|PKHD1_uc003pai.2_Silent_p.R2930R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2930	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51897950	51897950	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1081C(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53134010	53134010	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53134010C>A	uc003pbq.1	-	8	1263	c.815G>T	c.(814-816)GGG>GTG	p.G272V	ELOVL5_uc003pbr.1_Missense_Mutation_p.G272V|ELOVL5_uc011dwx.1_Missense_Mutation_p.G299V|ELOVL5_uc003pbs.1_Missense_Mutation_p.W230C	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	272					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)																	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519830	53519830	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53519830T>G	uc003pcb.3	-	2	382	c.241A>C	c.(241-243)ACC>CCC	p.T81P		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)																	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53784454	53784454	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53784454A>C	uc003pcd.1	+	12	1542	c.1265A>C	c.(1264-1266)GAA>GCA	p.E422A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	422						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)														---	---	---	---
C6orf142	90523	broad.mit.edu	37	6	53989479	53989479	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53989479G>A	uc003pcg.3	+	3	541	c.428G>A	c.(427-429)AGC>AAC	p.S143N	C6orf142_uc003pcf.2_Missense_Mutation_p.S143N|C6orf142_uc003pch.3_Missense_Mutation_p.S81N|C6orf142_uc011dwz.1_Missense_Mutation_p.S102N|C6orf142_uc011dxa.1_Missense_Mutation_p.S154N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	143						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)																	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806068	54806068	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54806068T>G	uc003pck.2	+	5	2415	c.2299T>G	c.(2299-2301)TTT>GTT	p.F767V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	767										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044520	56044520	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56044520A>G	uc003pcs.2	-	3	728	c.496T>C	c.(496-498)TTT>CTT	p.F166L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.F166L|COL21A1_uc003pcu.1_Missense_Mutation_p.F166L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	166	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---
DST	667	broad.mit.edu	37	6	56354379	56354379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56354379T>C	uc003pdf.2	-	80	14457	c.14429A>G	c.(14428-14430)GAG>GGG	p.E4810G	DST_uc003pcz.3_Missense_Mutation_p.E4632G|DST_uc011dxj.1_Missense_Mutation_p.E4661G|DST_uc011dxk.1_Missense_Mutation_p.E4672G|DST_uc003pcy.3_Missense_Mutation_p.E4306G|DST_uc003pda.3_Missense_Mutation_p.E2G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6718	Spectrin 18.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56362299	56362299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56362299C>A	uc003pdf.2	-	76	13772	c.13744G>T	c.(13744-13746)GGG>TGG	p.G4582W	DST_uc003pcz.3_Missense_Mutation_p.G4404W|DST_uc011dxj.1_Missense_Mutation_p.G4433W|DST_uc011dxk.1_Missense_Mutation_p.G4444W|DST_uc003pcy.3_Missense_Mutation_p.G4078W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6490	Spectrin 16.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56417167	56417167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56417167T>C	uc003pdf.2	-	55	10094	c.10066A>G	c.(10066-10068)AAG>GAG	p.K3356E	DST_uc003pcz.3_Missense_Mutation_p.K3178E|DST_uc011dxj.1_Missense_Mutation_p.K3207E|DST_uc011dxk.1_Missense_Mutation_p.K3218E|DST_uc003pcy.3_Missense_Mutation_p.K2852E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56437713	56437713	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56437713A>G	uc003pdf.2	-	46	7057	c.7029T>C	c.(7027-7029)AGT>AGC	p.S2343S	DST_uc003pcz.3_Silent_p.S2165S|DST_uc011dxj.1_Silent_p.S2194S|DST_uc011dxk.1_Silent_p.S2205S|DST_uc003pcy.3_Silent_p.S1839S|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56483403	56483403	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56483403T>A	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.Y1810F	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56819348	56819348	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56819348T>C	uc003pdf.2	-	1	66	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
BEND6	221336	broad.mit.edu	37	6	56880075	56880075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56880075G>A	uc010kab.2	+	4	1029	c.443G>A	c.(442-444)TGC>TAC	p.C148Y	BEND6_uc003pdi.3_Missense_Mutation_p.C50Y	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	148											0																		---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918985	56918985	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56918985C>A	uc003pdj.2	+	4	1858	c.1688C>A	c.(1687-1689)GCT>GAT	p.A563D	KIAA1586_uc011dxm.1_Missense_Mutation_p.A536D	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	563							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57015643	57015643	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:57015643T>C	uc003pdm.1	+	11	2959	c.2735T>C	c.(2734-2736)TTT>TCT	p.F912S	ZNF451_uc003pdl.2_Missense_Mutation_p.F912S|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.F912S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990621	63990621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63990621C>T	uc003peh.2	-	4	869	c.835G>A	c.(835-837)GCT>ACT	p.A279T	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	279					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995646	63995646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63995646T>C	uc003peh.2	-	3	210	c.176A>G	c.(175-177)GAC>GGC	p.D59G	LGSN_uc003pei.2_Missense_Mutation_p.D59G|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	59					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64286857	64286857	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64286857T>A	uc003pek.2	+	4	1058	c.72T>A	c.(70-72)AAT>AAA	p.N24K	PTP4A1_uc003pel.2_Missense_Mutation_p.N24K	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	24					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422823	64422823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64422823T>A	uc003pep.1	+	15	5365	c.5339T>A	c.(5338-5340)ATC>AAC	p.I1780N	PHF3_uc003pen.2_Missense_Mutation_p.I1692N|PHF3_uc011dxs.1_Missense_Mutation_p.I1049N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1780					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---
EYS	346007	broad.mit.edu	37	6	66094267	66094267	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66094267T>C	uc011dxu.1	-						EYS_uc003peq.2_Intron|EYS_uc003per.1_Intron	NM_001142800	NP_001136272			eyes shut homolog isoform 1						response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115115	66115115	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66115115A>G	uc011dxu.1	-	6	1546	c.1008T>C	c.(1006-1008)TTT>TTC	p.F336F	EYS_uc003peq.2_Silent_p.F336F|EYS_uc003per.1_Silent_p.F336F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	336	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
BAI3	577	broad.mit.edu	37	6	69758078	69758078	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69758078G>C	uc003pev.3	+	14	2557	c.2109G>C	c.(2107-2109)GTG>GTC	p.V703V	BAI3_uc010kak.2_Silent_p.V703V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	703	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
BAI3	577	broad.mit.edu	37	6	70064145	70064145	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70064145C>T	uc003pev.3	+	27	3928	c.3480C>T	c.(3478-3480)TGC>TGT	p.C1160C	BAI3_uc010kak.2_Silent_p.C1160C|BAI3_uc011dxx.1_Silent_p.C366C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1160	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70409017	70409017	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70409017A>G	uc003pfa.2	-	13	1371	c.1256T>C	c.(1255-1257)CTT>CCT	p.L419P	LMBRD1_uc003pey.2_Missense_Mutation_p.L215P|LMBRD1_uc003pez.2_Missense_Mutation_p.L346P|LMBRD1_uc010kal.2_Missense_Mutation_p.L346P|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	419	Helical; Name=8; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70428954	70428954	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70428954A>G	uc003pfa.2	-	8	771	c.656T>C	c.(655-657)TTA>TCA	p.L219S	LMBRD1_uc003pey.2_Missense_Mutation_p.L15S|LMBRD1_uc003pez.2_Missense_Mutation_p.L146S|LMBRD1_uc010kal.2_Missense_Mutation_p.L146S|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	219	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70462228	70462228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70462228A>G	uc003pfa.2	-	4	443	c.328T>C	c.(328-330)TTC>CTC	p.F110L	LMBRD1_uc003pez.2_Missense_Mutation_p.F37L|LMBRD1_uc010kal.2_Missense_Mutation_p.F37L|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	110	Helical; Name=3; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70744135	70744135	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70744135A>C	uc003pfc.1	+	13	1198	c.1081_splice	c.e13-2	p.G361_splice	COL19A1_uc010kam.1_Splice_Site_p.G257_splice	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---
B3GAT2	135152	broad.mit.edu	37	6	71603827	71603827	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:71603827T>C	uc003pfv.2	-						B3GAT2_uc011dxz.1_Intron|B3GAT2_uc003pfw.2_Intron	NM_080742	NP_542780			beta-1,3-glucuronyltransferase 2						carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
OGFRL1	79627	broad.mit.edu	37	6	72006048	72006048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72006048A>G	uc003pfx.1	+	4	592	c.429A>G	c.(427-429)AAA>AAG	p.K143K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	143						membrane	receptor activity				0																		---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72960976	72960976	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72960976A>G	uc003pga.2	+	15	2680	c.2603A>G	c.(2602-2604)CAG>CGG	p.Q868R	RIMS1_uc011dyb.1_Missense_Mutation_p.Q494R|RIMS1_uc003pgc.2_Missense_Mutation_p.Q494R|RIMS1_uc010kaq.2_Missense_Mutation_p.Q342R|RIMS1_uc011dyc.1_Missense_Mutation_p.Q342R|RIMS1_uc010kar.2_Missense_Mutation_p.Q261R|RIMS1_uc011dyd.1_Missense_Mutation_p.Q327R|RIMS1_uc003pgf.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgg.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgi.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgh.2_Missense_Mutation_p.Q85R|RIMS1_uc003pgd.2_Missense_Mutation_p.Q85R|RIMS1_uc003pge.2_Missense_Mutation_p.Q85R|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.Q494R|RIMS1_uc010kas.1_Missense_Mutation_p.Q327R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	868					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904299	73904299	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904299C>T	uc003pgk.2	+	14	2308	c.1961C>T	c.(1960-1962)ACA>ATA	p.T654I	KCNQ5_uc011dyh.1_Missense_Mutation_p.T673I|KCNQ5_uc011dyi.1_Missense_Mutation_p.T664I|KCNQ5_uc010kat.2_Missense_Mutation_p.T645I|KCNQ5_uc011dyj.1_Missense_Mutation_p.T544I|KCNQ5_uc011dyk.1_Missense_Mutation_p.T404I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	654					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904338	73904338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904338C>T	uc003pgk.2	+	14	2347	c.2000C>T	c.(1999-2001)TCG>TTG	p.S667L	KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	667					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904905	73904905	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73904905G>A	uc003pgk.2	+	14	2914	c.2567G>A	c.(2566-2568)GGC>GAC	p.G856D	KCNQ5_uc011dyh.1_Missense_Mutation_p.G875D|KCNQ5_uc011dyi.1_Missense_Mutation_p.G866D|KCNQ5_uc010kat.2_Missense_Mutation_p.G847D|KCNQ5_uc011dyj.1_Missense_Mutation_p.G746D|KCNQ5_uc011dyk.1_Missense_Mutation_p.G606D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	856					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74107473	74107473	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74107473C>T	uc003pgw.2	+						OOEP_uc003pgv.3_5'Flank|DDX43_uc011dyn.1_Intron	NM_018665	NP_061135			DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4																		---	---	---	---
MTO1	25821	broad.mit.edu	37	6	74210336	74210336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74210336G>A	uc003pgy.3	+	13	2156	c.2032G>A	c.(2032-2034)GCC>ACC	p.A678T	MTO1_uc010kav.2_Missense_Mutation_p.A693T|MTO1_uc003pgz.3_Missense_Mutation_p.A653T|MTO1_uc003pha.3_Missense_Mutation_p.A315T|MTO1_uc003phb.3_Missense_Mutation_p.A604T	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	678					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74476735	74476735	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74476735T>C	uc003php.2	+	13	1922	c.1497_splice	c.e13+2	p.M499_splice	CD109_uc010kaz.2_Splice_Site_p.M499_splice|CD109_uc003phq.2_Splice_Site_p.M499_splice|CD109_uc010kba.2_Splice_Site_p.M422_splice	NM_133493	NP_598000			CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
CD109	135228	broad.mit.edu	37	6	74481262	74481262	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74481262T>C	uc003php.2	+	15	2210	c.1785T>C	c.(1783-1785)AGT>AGC	p.S595S	CD109_uc010kaz.2_Silent_p.S595S|CD109_uc003phq.2_Silent_p.S595S|CD109_uc010kba.2_Silent_p.S518S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	595	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75827138	75827138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75827138T>C	uc003phs.2	-	47	7645	c.7479A>G	c.(7477-7479)GAA>GAG	p.E2493E	COL12A1_uc003pht.2_Silent_p.E1329E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2493	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75833968	75833968	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75833968T>A	uc003phs.2	-						COL12A1_uc003pht.2_Intron	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75853014	75853014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75853014C>T	uc003phs.2	-	26	4947	c.4781G>A	c.(4780-4782)CGT>CAT	p.R1594H	COL12A1_uc003pht.2_Missense_Mutation_p.R430H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1594	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75884990	75884990	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75884990G>T	uc003phs.2	-	13	2640	c.2474C>A	c.(2473-2475)CCT>CAT	p.P825H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	825	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75898176	75898176	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75898176G>A	uc003phs.2	-	8	1065	c.899C>T	c.(898-900)GCC>GTC	p.A300V	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	300	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023662	76023662	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76023662A>G	uc003pia.2	-	5	2259	c.1886T>C	c.(1885-1887)ATT>ACT	p.I629T	FILIP1_uc003phy.1_Missense_Mutation_p.I629T|FILIP1_uc003phz.2_Missense_Mutation_p.I530T|FILIP1_uc010kbe.2_Missense_Mutation_p.I632T|FILIP1_uc003pib.1_Missense_Mutation_p.I381T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	629	Potential.									skin(3)|ovary(1)	4																		---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76545675	76545675	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76545675T>C	uc003pih.1	+	7	832	c.553_splice	c.e7+2	p.A185_splice	MYO6_uc003pig.1_Splice_Site_p.A185_splice|MYO6_uc003pii.1_Splice_Site_p.A185_splice	NM_004999	NP_004990			myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76617407	76617407	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76617407A>G	uc003pih.1	+	31	3541	c.3262A>G	c.(3262-3264)ACC>GCC	p.T1088A	MYO6_uc003pig.1_Missense_Mutation_p.T1065A|MYO6_uc003pii.1_Missense_Mutation_p.T1065A|MYO6_uc003pij.1_Missense_Mutation_p.T45A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1097					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76657071	76657071	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76657071G>A	uc003pik.1	-	14	2134	c.2004C>T	c.(2002-2004)CTC>CTT	p.L668L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	668	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715197	76715197	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76715197T>G	uc003pik.1	-	10	1072	c.942A>C	c.(940-942)GAA>GAC	p.E314D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	314	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76734953	76734953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76734953T>C	uc003pik.1	-	5	650	c.520A>G	c.(520-522)AAG>GAG	p.K174E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	174					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---
SH3BGRL2	83699	broad.mit.edu	37	6	80409210	80409210	+	Intron	SNP	T	A	A	rs35728679		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80409210T>A	uc003piz.1	+							NM_031469	NP_113657			SH3 domain binding glutamic acid-rich protein							nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)														---	---	---	---
BCKDHB	594	broad.mit.edu	37	6	80816557	80816557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80816557G>A	uc003pjd.2	+	1	214	c.147G>A	c.(145-147)CGG>CGA	p.R49R	BCKDHB_uc003pje.2_Silent_p.R49R	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	49					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)														---	---	---	---
UBE2CBP	90025	broad.mit.edu	37	6	83732251	83732251	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83732251T>C	uc003pjp.2	-	7	875	c.767A>G	c.(766-768)CAG>CGG	p.Q256R	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.Q46R	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	256	Interaction with UBE2C.					cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83818737	83818737	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83818737T>A	uc003pjs.1	+	5	689	c.429T>A	c.(427-429)GGT>GGA	p.G143G	DOPEY1_uc011dyy.1_Silent_p.G143G|DOPEY1_uc010kbl.1_Silent_p.G143G	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	143					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83823030	83823030	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83823030C>T	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83830457	83830457	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83830457A>G	uc003pjs.1	+	10	1306	c.1046A>G	c.(1045-1047)CAG>CGG	p.Q349R	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q340R|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q340R	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	349					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83848231	83848231	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83848231A>G	uc003pjs.1	+	21	4730	c.4470A>G	c.(4468-4470)ATA>ATG	p.I1490M	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1481M|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1481M|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1490					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83863667	83863667	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83863667T>C	uc003pjs.1	+	32	6554	c.6294T>C	c.(6292-6294)AGT>AGC	p.S2098S	DOPEY1_uc011dyy.1_Silent_p.S2089S|DOPEY1_uc010kbl.1_Silent_p.S2089S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2098					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
PGM3	5238	broad.mit.edu	37	6	83888390	83888390	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83888390A>G	uc003pjv.2	-	8	1069	c.1029_splice	c.e8+1	p.K343_splice	PGM3_uc003pjw.2_Splice_Site_p.K262_splice|PGM3_uc011dyz.1_Splice_Site_p.K371_splice	NM_015599	NP_056414			phosphoglucomutase 3						dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)														---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84799100	84799100	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84799100A>G	uc003pkg.3	+	4	708	c.518A>G	c.(517-519)GAC>GGC	p.D173G	MRAP2_uc010kbo.2_Missense_Mutation_p.D87G	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	173					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2																		---	---	---	---
KIAA1009	22832	broad.mit.edu	37	6	84910585	84910585	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84910585T>C	uc010kbp.2	-	9	854	c.757A>G	c.(757-759)AAT>GAT	p.N253D	KIAA1009_uc003pkj.3_Missense_Mutation_p.N177D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N253D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	253					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)														---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446856	85446856	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85446856A>G	uc003pkl.1	-	8	1371	c.1371T>C	c.(1369-1371)TAT>TAC	p.Y457Y	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86267737	86267737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86267737T>C	uc003pkr.2	-	7	784	c.591A>G	c.(589-591)GCA>GCG	p.A197A	SNX14_uc003pkp.2_Silent_p.A60A|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.A145A|SNX14_uc003pks.2_Silent_p.A153A|SNX14_uc003pkt.2_Silent_p.A197A	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	197	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)														---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86329028	86329028	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86329028A>T	uc003pla.2	-	9	1657	c.1116T>A	c.(1114-1116)GAT>GAA	p.D372E	SYNCRIP_uc003pku.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D337E|SYNCRIP_uc003pky.2_Missense_Mutation_p.D274E|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D372E|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D220E|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D337E	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	372	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)														---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965271	87965271	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87965271T>G	uc003plm.3	+	8	1965	c.1924T>G	c.(1924-1926)TCA>GCA	p.S642A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88227990	88227990	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88227990A>G	uc003pme.2	-						RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron	NM_020320	NP_064716			arginyl-tRNA synthetase 2, mitochondrial						arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)														---	---	---	---
ORC3L	23595	broad.mit.edu	37	6	88367632	88367632	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88367632T>A	uc003pmh.2	+						ORC3L_uc011dzn.1_Intron|ORC3L_uc003pmg.2_Intron|ORC3L_uc003pmi.2_Intron|ORC3L_uc011dzo.1_Intron|ORC3L_uc011dzp.1_Intron	NM_012381	NP_036513			origin recognition complex, subunit 3 isoform 2						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88385594	88385594	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88385594T>C	uc003pmk.2	-	4	1168	c.585A>G	c.(583-585)GGA>GGG	p.G195G		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	195					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
AKIRIN2	55122	broad.mit.edu	37	6	88387678	88387678	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88387678T>C	uc003pmk.2	-	3	970	c.387A>G	c.(385-387)TCA>TCG	p.S129S		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	129					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0																		---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853779	88853779	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88853779T>C	uc011dzq.1	-	2	4778	c.1215A>G	c.(1213-1215)CGA>CGG	p.R405R	CNR1_uc010kbz.2_Silent_p.R405R|CNR1_uc011dzr.1_Silent_p.R405R|CNR1_uc011dzs.1_Silent_p.R405R|CNR1_uc003pmq.3_Silent_p.R405R|CNR1_uc011dzt.1_Silent_p.R405R|CNR1_uc010kca.2_Silent_p.R372R	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	405	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888794	89888794	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89888794A>T	uc003pna.2	-						GABRR1_uc011dzv.1_Intron	NM_002042	NP_002033			gamma-aminobutyric acid (GABA) receptor, rho 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89890057	89890057	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89890057T>C	uc003pna.2	-	9	1555	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GABRR1_uc011dzv.1_Missense_Mutation_p.Y344C	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	367	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372614	90372614	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372614T>C	uc003pnn.1	-	86	14425	c.14309A>G	c.(14308-14310)GAA>GGA	p.E4770G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4770					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90372634	90372634	+	Missense_Mutation	SNP	C	T	T	rs116035185	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90372634C>T	uc003pnn.1	-	86	14405	c.14289G>A	c.(14287-14289)ATG>ATA	p.M4763I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4763					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410395	90410395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410395T>C	uc003pnn.1	-	56	8724	c.8608A>G	c.(8608-8610)AGA>GGA	p.R2870G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2870					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90410508	90410508	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90410508T>C	uc003pnn.1	-	56	8611	c.8495A>G	c.(8494-8496)CAG>CGG	p.Q2832R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2832					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90482319	90482319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90482319T>C	uc003pnn.1	-	14	2172	c.2056A>G	c.(2056-2058)ACC>GCC	p.T686A	MDN1_uc003pno.1_Missense_Mutation_p.T104A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	686					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90491146	90491146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90491146T>C	uc003pnn.1	-	10	1731	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.T539A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90494776	90494776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90494776C>A	uc003pnn.1	-	9	1520	c.1404G>T	c.(1402-1404)TGG>TGT	p.W468C	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.W468C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	468					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90571956	90571956	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90571956G>T	uc003pnr.2	+	7	724	c.528G>T	c.(526-528)AAG>AAT	p.K176N	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K176N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K176N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	176					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90577062	90577062	+	Silent	SNP	C	T	T	rs147437828	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90577062C>T	uc003pnr.2	+	8	4249	c.4053C>T	c.(4051-4053)TGC>TGT	p.C1351C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1351C|CASP8AP2_uc011dzz.1_Silent_p.C1351C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1351					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90578332	90578332	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90578332A>G	uc003pnr.2	+	8	5519	c.5323A>G	c.(5323-5325)AAG>GAG	p.K1775E	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1775E|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1775E	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1775	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90642371	90642371	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90642371G>A	uc011eab.1	-	9	3091	c.2282C>T	c.(2281-2283)GCA>GTA	p.A761V	BACH2_uc003pnw.2_Missense_Mutation_p.A761V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	761						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661298	90661298	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661298G>A	uc011eab.1	-	7	1336	c.527C>T	c.(526-528)GCC>GTC	p.A176V	BACH2_uc003pnw.2_Missense_Mutation_p.A176V|BACH2_uc010kch.2_Missense_Mutation_p.A176V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	176						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661318	90661318	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661318C>T	uc011eab.1	-	7	1316	c.507G>A	c.(505-507)GAG>GAA	p.E169E	BACH2_uc003pnw.2_Silent_p.E169E|BACH2_uc010kch.2_Silent_p.E169E	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	169	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226365	91226365	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91226365T>C	uc003pnz.1	-	17	1838	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	MAP3K7_uc003pny.1_Missense_Mutation_p.K96R|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.K532R|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	559					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91233425	91233425	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91233425A>T	uc003pnz.1	-	14	1596	c.1434T>A	c.(1432-1434)AGT>AGA	p.S478R	MAP3K7_uc003pny.1_Missense_Mutation_p.S15R|MAP3K7_uc003poa.1_Missense_Mutation_p.S478R|MAP3K7_uc003pob.1_Missense_Mutation_p.S451R|MAP3K7_uc003poc.1_Missense_Mutation_p.S451R	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	478					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91260185	91260185	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91260185A>T	uc003pnz.1	-	9	1111	c.949_splice	c.e9+1	p.G317_splice	MAP3K7_uc003poa.1_Splice_Site_p.G317_splice|MAP3K7_uc003pob.1_Splice_Site_p.G317_splice|MAP3K7_uc003poc.1_Splice_Site_p.G317_splice	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91266208	91266208	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91266208T>A	uc003pnz.1	-						MAP3K7_uc003poa.1_Intron|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651601	96651601	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96651601C>T	uc003pop.3	+	3	911	c.570C>T	c.(568-570)TGC>TGT	p.C190C		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	190	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)														---	---	---	---
KIAA0776	23376	broad.mit.edu	37	6	96986536	96986536	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96986536A>C	uc003por.2	+	10	1056	c.1008A>C	c.(1006-1008)GAA>GAC	p.E336D	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	336					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97634560	97634560	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97634560C>T	uc003ppb.2	-	15	2312	c.2046G>A	c.(2044-2046)ATG>ATA	p.M682I	C6orf167_uc011eaf.1_Missense_Mutation_p.M642I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	682					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---
C6orf168	84553	broad.mit.edu	37	6	99729068	99729068	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99729068T>A	uc003ppj.3	-	6	1485	c.1202A>T	c.(1201-1203)GAC>GTC	p.D401V	C6orf168_uc003ppi.3_Missense_Mutation_p.D121V	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99849264	99849264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99849264T>C	uc003ppo.3	-	12	1798	c.1570A>G	c.(1570-1572)ACT>GCT	p.T524A	SFRS18_uc003ppl.2_Missense_Mutation_p.T70A|SFRS18_uc003ppp.3_Missense_Mutation_p.T524A|SFRS18_uc011eag.1_Missense_Mutation_p.T524A	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	524	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SFRS18	25957	broad.mit.edu	37	6	99862500	99862500	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99862500C>A	uc003ppo.3	-	3	264	c.36G>T	c.(34-36)TGG>TGT	p.W12C	SFRS18_uc003ppp.3_Missense_Mutation_p.W12C|SFRS18_uc011eag.1_Missense_Mutation_p.W12C|SFRS18_uc003ppr.2_Missense_Mutation_p.W12C|SFRS18_uc003ppt.2_Missense_Mutation_p.W12C|SFRS18_uc003pps.2_Missense_Mutation_p.W12C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	12	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)														---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841584	100841584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100841584G>A	uc003pqj.3	-	10	1556	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	SIM1_uc010kcu.2_Missense_Mutation_p.A450V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101073063	101073063	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101073063C>A	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101090637	101090637	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101090637T>C	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101099511	101099511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101099511T>C	uc003pqk.2	-	19	3329	c.3000A>G	c.(2998-3000)GAA>GAG	p.E1000E	ASCC3_uc011eai.1_Silent_p.E902E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1000	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296112	101296112	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296112A>G	uc003pqk.2	-	4	1042	c.713T>C	c.(712-714)ATG>ACG	p.M238T	ASCC3_uc011eai.1_Missense_Mutation_p.M140T|ASCC3_uc003pql.2_Missense_Mutation_p.M238T|ASCC3_uc010kcv.2_Missense_Mutation_p.M238T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296277	101296277	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101296277G>T	uc003pqk.2	-	4	877	c.548C>A	c.(547-549)CCA>CAA	p.P183Q	ASCC3_uc011eai.1_Missense_Mutation_p.P85Q|ASCC3_uc003pql.2_Missense_Mutation_p.P183Q|ASCC3_uc010kcv.2_Missense_Mutation_p.P183Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105606454	105606454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105606454T>C	uc003prb.2	-	4	1169	c.767A>G	c.(766-768)TAT>TGT	p.Y256C	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	256						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)																---	---	---	---
PREP	5550	broad.mit.edu	37	6	105736671	105736671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105736671G>A	uc003prc.2	-	11	1619	c.1416C>T	c.(1414-1416)GGC>GGT	p.G472G		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	472					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---
AIM1	202	broad.mit.edu	37	6	106968337	106968337	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106968337C>T	uc003prh.2	+	2	2517	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	677							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---
RTN4IP1	84816	broad.mit.edu	37	6	107050795	107050795	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107050795A>G	uc003prj.2	-	5	1100	c.623T>C	c.(622-624)GTT>GCT	p.V208A	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.V108A	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	208						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)														---	---	---	---
QRSL1	55278	broad.mit.edu	37	6	107096961	107096961	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107096961T>A	uc003prm.2	+	5	558	c.442T>A	c.(442-444)TAT>AAT	p.Y148N	QRSL1_uc003prl.2_Missense_Mutation_p.Y148N	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	148					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)														---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108067978	108067978	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108067978G>A	uc010kdf.2	-	4	653	c.402C>T	c.(400-402)GCC>GCT	p.A134A	SCML4_uc003prz.3_Silent_p.A76A|SCML4_uc011eam.1_Silent_p.A134A|SCML4_uc003psa.3_Silent_p.A105A	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108246125	108246125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108246125A>G	uc003psc.3	-	3	505	c.236T>C	c.(235-237)CTG>CCG	p.L79P		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	79	Helical; (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
OSTM1	28962	broad.mit.edu	37	6	108395540	108395540	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108395540C>T	uc003psd.2	-	1	402	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	106	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109282770	109282770	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109282770T>C	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109315666	109315666	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109315666T>C	uc003pst.3	-	6	1034	c.942A>G	c.(940-942)TCA>TCG	p.S314S	SESN1_uc003psu.2_Silent_p.S373S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	314					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)														---	---	---	---
C6orf182	285753	broad.mit.edu	37	6	109484127	109484127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109484127A>G	uc010kdk.2	+	13	1914	c.1337A>G	c.(1336-1338)AAT>AGT	p.N446S	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.N446S|C6orf182_uc003psy.3_Missense_Mutation_p.N446S	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	446						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)														---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109748083	109748083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109748083G>A	uc003ptg.3	-	5	652	c.598C>T	c.(598-600)CGA>TGA	p.R200*	PPIL6_uc010kdo.2_Nonsense_Mutation_p.R168*|PPIL6_uc010kdp.2_Nonsense_Mutation_p.R200*	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	200	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)														---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109803146	109803146	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109803146C>A	uc003ptl.1	-	2	252	c.84G>T	c.(82-84)GAG>GAT	p.E28D	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.E28D|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.E28D	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	28	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)														---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109854523	109854523	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109854523C>G	uc003ptn.2	-	28	3578	c.3501G>C	c.(3499-3501)AAG>AAC	p.K1167N	AKD1_uc011eat.1_Missense_Mutation_p.K246N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1167					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109867248	109867248	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109867248T>C	uc003ptn.2	-	26	3124	c.3047A>G	c.(3046-3048)AAC>AGC	p.N1016S	AKD1_uc011eat.1_Missense_Mutation_p.N95S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1016					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
AKD1	221264	broad.mit.edu	37	6	109871475	109871475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109871475G>A	uc003ptn.2	-	25	2859	c.2782C>T	c.(2782-2784)CAT>TAT	p.H928Y	AKD1_uc011eat.1_Missense_Mutation_p.H7Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	928					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300428	110300428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300428C>T	uc011eaw.1	+	2	293	c.113C>T	c.(112-114)CCC>CTC	p.P38L	GPR6_uc011eav.1_Missense_Mutation_p.P53L|GPR6_uc003ptu.2_Missense_Mutation_p.P38L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	38	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300509	110300509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300509C>T	uc011eaw.1	+	2	374	c.194C>T	c.(193-195)CCG>CTG	p.P65L	GPR6_uc011eav.1_Missense_Mutation_p.P80L|GPR6_uc003ptu.2_Missense_Mutation_p.P65L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	65	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300639	110300639	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300639C>T	uc011eaw.1	+	2	504	c.324C>T	c.(322-324)TTC>TTT	p.F108F	GPR6_uc011eav.1_Silent_p.F123F|GPR6_uc003ptu.2_Silent_p.F108F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	108	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110768070	110768070	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110768070A>G	uc003puf.2	-						SLC22A16_uc003pue.2_Intron	NM_033125	NP_149116			solute carrier family 22, member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110777921	110777921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110777921C>T	uc003puf.2	-	2	420	c.353G>A	c.(352-354)GGC>GAC	p.G118D	SLC22A16_uc003pue.2_Missense_Mutation_p.G99D|SLC22A16_uc003pug.2_Missense_Mutation_p.G118D	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	118					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
AMD1	262	broad.mit.edu	37	6	111213504	111213504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111213504A>G	uc003puk.1	+	6	795	c.473A>G	c.(472-474)TAC>TGC	p.Y158C	AMD1_uc011eay.1_Missense_Mutation_p.Y89C|AMD1_uc011eaz.1_Missense_Mutation_p.Y129C|AMD1_uc011eba.1_Missense_Mutation_p.Y38C|AMD1_uc003pul.1_Missense_Mutation_p.Y10C	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	158					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)													---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111585063	111585063	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111585063T>C	uc003puv.3	+	3	649	c.227T>C	c.(226-228)CTT>CCT	p.L76P		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	76	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)														---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111694279	111694279	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111694279T>A	uc003puy.3	-	13	5602	c.5279A>T	c.(5278-5280)GAT>GTT	p.D1760V	REV3L_uc003pux.3_Missense_Mutation_p.D1682V|REV3L_uc003puz.3_Missense_Mutation_p.D1682V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1760					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696103	111696103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696103C>T	uc003puy.3	-	13	3778	c.3455G>A	c.(3454-3456)GGT>GAT	p.G1152D	REV3L_uc003pux.3_Missense_Mutation_p.G1074D|REV3L_uc003puz.3_Missense_Mutation_p.G1074D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1152					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696362	111696362	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696362T>C	uc003puy.3	-	13	3519	c.3196A>G	c.(3196-3198)AAT>GAT	p.N1066D	REV3L_uc003pux.3_Missense_Mutation_p.N988D|REV3L_uc003puz.3_Missense_Mutation_p.N988D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1066					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726841	111726841	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726841A>T	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111726843	111726843	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111726843A>G	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
FYN	2534	broad.mit.edu	37	6	112041137	112041137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112041137G>A	uc003pvj.2	-	3	458	c.118C>T	c.(118-120)CCC>TCC	p.P40S	FYN_uc003pvi.2_Missense_Mutation_p.P40S|FYN_uc003pvk.2_Missense_Mutation_p.P40S|FYN_uc003pvh.2_Missense_Mutation_p.P40S	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	40					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)													---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114267237	114267237	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114267237A>T	uc003pwd.1	-	9	1199	c.1199T>A	c.(1198-1200)ATC>AAC	p.I400N	HDAC2_uc003pwc.1_Missense_Mutation_p.I276N|HDAC2_uc003pwe.1_Missense_Mutation_p.I276N	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)													---	---	---	---
DSE	29940	broad.mit.edu	37	6	116758204	116758204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116758204A>G	uc003pws.2	+	6	2767	c.2573A>G	c.(2572-2574)GAC>GGC	p.D858G	DSE_uc011ebg.1_Missense_Mutation_p.D877G|DSE_uc003pwt.2_Missense_Mutation_p.D858G|DSE_uc003pwu.2_Missense_Mutation_p.D525G	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	858					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)														---	---	---	---
ZUFSP	221302	broad.mit.edu	37	6	116987885	116987885	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116987885T>C	uc003pxf.1	-	2	717	c.471A>G	c.(469-471)CCA>CCG	p.P157P	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	157	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)														---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117113550	117113550	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117113550T>C	uc003pxj.1	-	6	2558	c.2536A>G	c.(2536-2538)AAG>GAG	p.K846E	GPRC6A_uc003pxk.1_Missense_Mutation_p.K671E|GPRC6A_uc003pxl.1_Missense_Mutation_p.K775E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	846	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)														---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237196	117237196	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117237196A>G	uc003pxm.2	+	8	869	c.806A>G	c.(805-807)AAA>AGA	p.K269R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	269					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117700211	117700211	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117700211A>G	uc003pxp.1	-						ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935			proto-oncogene c-ros-1 protein precursor						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117715341	117715341	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117715341A>G	uc003pxp.1	-	10	1347	c.1148T>C	c.(1147-1149)TTC>TCC	p.F383S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	383	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
ASF1A	25842	broad.mit.edu	37	6	119221946	119221946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119221946T>C	uc011ebn.1	+	2	462	c.125T>C	c.(124-126)ATT>ACT	p.I42T		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	42	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)														---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119341193	119341193	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119341193T>G	uc003pyj.2	-	4	1630	c.1282A>C	c.(1282-1284)ACC>CCC	p.T428P	FAM184A_uc003pyk.3_Missense_Mutation_p.T308P|FAM184A_uc003pyl.3_Missense_Mutation_p.T308P	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	428	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7																		---	---	---	---
C6orf170	221322	broad.mit.edu	37	6	121452891	121452891	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121452891A>T	uc003pyo.1	-	25	2849	c.2781T>A	c.(2779-2781)GAT>GAA	p.D927E	C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_Missense_Mutation_p.D26E|C6orf170_uc003pyp.1_Missense_Mutation_p.D487E	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	927					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)														---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768523	121768523	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768523A>G	uc003pyr.2	+	2	780	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	GJA1_uc011ebo.1_Missense_Mutation_p.Y78C|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	177	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768775	121768775	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768775G>T	uc003pyr.2	+	2	1032	c.782G>T	c.(781-783)GGG>GTG	p.G261V	GJA1_uc011ebo.1_Missense_Mutation_p.G162V|GJA1_uc011ebp.1_Missense_Mutation_p.G49V	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	261	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122777743	122777743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:122777743A>G	uc003pyy.1	-	3	324	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	85	Lumenal (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)														---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332155	123332155	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332155G>A	uc003pzi.1	+	3	1284	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	139	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125541286	125541286	+	Missense_Mutation	SNP	T	C	C	rs150625143	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125541286T>C	uc003pzu.1	+	2	301	c.82T>C	c.(82-84)TCT>CCT	p.S28P	TPD52L1_uc003pzv.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzw.1_Missense_Mutation_p.S28P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	28	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
HDDC2	51020	broad.mit.edu	37	6	125621699	125621699	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125621699C>T	uc003qaa.1	-	2	395	c.191G>A	c.(190-192)CGT>CAT	p.R64H	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	64	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)														---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126203608	126203608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126203608G>A	uc010kes.2	+	9	1059	c.610G>A	c.(610-612)GAA>AAA	p.E204K	NCOA7_uc003qae.3_Missense_Mutation_p.E204K|NCOA7_uc003qah.2_Missense_Mutation_p.E204K|NCOA7_uc003qai.2_Missense_Mutation_p.E204K|NCOA7_uc010ket.2_Missense_Mutation_p.E100K|NCOA7_uc003qaf.2_Missense_Mutation_p.E204K|NCOA7_uc003qag.2_Missense_Mutation_p.E204K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	204					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---
HINT3	135114	broad.mit.edu	37	6	126293417	126293417	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126293417T>C	uc003qal.3	+	3	595	c.332T>C	c.(331-333)GTA>GCA	p.V111A	HINT3_uc010keu.2_Missense_Mutation_p.V2A	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	111	HIT.					mitochondrion|nucleolus	hydrolase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)														---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127476519	127476519	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127476519T>C	uc003qar.2	+	4	860	c.570T>C	c.(568-570)TGT>TGC	p.C190C	RSPO3_uc003qas.1_Silent_p.C190C	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	190	TSP type-1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)														---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608346	127608346	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127608346C>T	uc003qav.2	+	3	747	c.588C>T	c.(586-588)AGC>AGT	p.S196S	RNF146_uc003qat.2_Silent_p.S195S|RNF146_uc003qau.2_Silent_p.S195S|RNF146_uc003qaw.2_Silent_p.S195S	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	196					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127836177	127836177	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127836177G>T	uc003qbd.2	-	3	1982	c.1117C>A	c.(1117-1119)CTG>ATG	p.L373M		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	373	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837089	127837089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837089C>T	uc003qbd.2	-	2	1536	c.671G>A	c.(670-672)GGC>GAC	p.G224D		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	224	Gly-rich.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127837612	127837612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127837612G>A	uc003qbd.2	-	2	1013	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	50						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128040898	128040898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128040898C>A	uc003qbi.2	-	6	2148	c.1829G>T	c.(1828-1830)GGT>GTT	p.G610V	THEMIS_uc010kfa.2_Missense_Mutation_p.G513V|THEMIS_uc011ebt.1_Missense_Mutation_p.G649V|THEMIS_uc010kfb.2_Missense_Mutation_p.G575V	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	610					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128302346	128302346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128302346T>C	uc003qbk.2	-	25	3990	c.3623A>G	c.(3622-3624)GAC>GGC	p.D1208G	PTPRK_uc003qbj.2_Missense_Mutation_p.D1209G|PTPRK_uc010kfc.2_Missense_Mutation_p.D1215G|PTPRK_uc011ebu.1_Missense_Mutation_p.D1231G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1208	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128388793	128388793	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128388793C>T	uc003qbk.2	-	12	2395	c.2028G>A	c.(2026-2028)CCG>CCA	p.P676P	PTPRK_uc003qbj.2_Silent_p.P676P|PTPRK_uc010kfc.2_Silent_p.P676P|PTPRK_uc011ebu.1_Silent_p.P676P|PTPRK_uc003qbl.1_Silent_p.P546P|PTPRK_uc011ebv.1_Silent_p.P676P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	676	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128410836	128410836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128410836A>G	uc003qbk.2	-	8	1831	c.1464T>C	c.(1462-1464)GAT>GAC	p.D488D	PTPRK_uc003qbj.2_Silent_p.D488D|PTPRK_uc010kfc.2_Silent_p.D488D|PTPRK_uc011ebu.1_Silent_p.D488D|PTPRK_uc003qbl.1_Silent_p.D358D|PTPRK_uc011ebv.1_Silent_p.D488D	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	488	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129636704	129636704	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129636704A>G	uc003qbn.2	+	25	3744	c.3639A>G	c.(3637-3639)CAA>CAG	p.Q1213Q	LAMA2_uc003qbo.2_Silent_p.Q1213Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1213	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129704342	129704342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129704342G>T	uc003qbn.2	+	35	5140	c.5035G>T	c.(5035-5037)GGA>TGA	p.G1679*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1679*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1679	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129799866	129799866	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129799866G>A	uc003qbn.2	+	53	7585	c.7480G>A	c.(7480-7482)GGC>AGC	p.G2494S	LAMA2_uc003qbo.2_Missense_Mutation_p.G2490S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2494	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129802444	129802444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129802444G>A	uc003qbn.2	+	54	7714	c.7609G>A	c.(7609-7611)GTG>ATG	p.V2537M	LAMA2_uc003qbo.2_Missense_Mutation_p.V2533M|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2537	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129826384	129826384	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129826384G>T	uc003qbn.2	+	60	8692	c.8587G>T	c.(8587-8589)GTA>TTA	p.V2863L	LAMA2_uc003qbo.2_Missense_Mutation_p.V2859L|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2863	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130381225	130381225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130381225G>A	uc003qbt.2	+	10	974	c.804G>A	c.(802-804)ATG>ATA	p.M268I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.M243I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	268	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130425727	130425727	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130425727A>G	uc003qbt.2	+						L3MBTL3_uc003qbu.2_Intron	NM_032438	NP_115814			l(3)mbt-like 3 isoform a						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130465868	130465868	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130465868C>T	uc003qbv.2	-	13	1686	c.1360G>A	c.(1360-1362)GAG>AAG	p.E454K	SAMD3_uc003qbx.2_Missense_Mutation_p.E454K|SAMD3_uc003qbw.2_Missense_Mutation_p.E454K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	454										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131220650	131220650	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131220650A>T	uc003qch.2	-	8	1399	c.1217T>A	c.(1216-1218)GTT>GAT	p.V406D	EPB41L2_uc003qcg.1_Missense_Mutation_p.V406D|EPB41L2_uc011eby.1_Missense_Mutation_p.V406D|EPB41L2_uc003qci.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfk.2_Missense_Mutation_p.V406D|EPB41L2_uc010kfl.1_Missense_Mutation_p.V406D	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	406	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225685	131225685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131225685A>T	uc003qch.2	-						EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Intron	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277431	131277431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277431C>T	uc003qch.2	-	2	377	c.195G>A	c.(193-195)GAG>GAA	p.E65E	EPB41L2_uc003qcg.1_Silent_p.E65E|EPB41L2_uc011eby.1_Silent_p.E65E|EPB41L2_uc003qci.2_Silent_p.E65E|EPB41L2_uc010kfk.2_Silent_p.E65E|EPB41L2_uc010kfl.1_Silent_p.E65E	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	65					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277633	131277633	+	Translation_Start_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131277633G>T	uc003qch.2	-	2	175	c.-7C>A	c.(-9--5)AGCTG>AGATG		EPB41L2_uc003qcg.1_Translation_Start_Site|EPB41L2_uc011eby.1_Translation_Start_Site|EPB41L2_uc003qci.2_Translation_Start_Site|EPB41L2_uc010kfk.2_Translation_Start_Site|EPB41L2_uc010kfl.1_Translation_Start_Site	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131910744	131910744	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131910744A>G	uc003qcs.1	-						MED23_uc003qcq.2_Intron|MED23_uc003qcr.1_Intron	NM_004830	NP_004821			mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131915302	131915302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131915302C>T	uc003qcs.1	-	23	3343	c.3169G>A	c.(3169-3171)GAG>AAG	p.E1057K	MED23_uc003qcq.2_Missense_Mutation_p.E1063K|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.E698K	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1057					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131927653	131927653	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131927653T>A	uc003qcs.1	-	13	1507	c.1333A>T	c.(1333-1335)ATT>TTT	p.I445F	MED23_uc003qcq.2_Missense_Mutation_p.I451F|MED23_uc011eca.1_Missense_Mutation_p.I86F|MED23_uc003qct.1_Missense_Mutation_p.I451F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	445					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131992414	131992414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131992414A>G	uc003qcu.3	+	8	936	c.589A>G	c.(589-591)ATG>GTG	p.M197V	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.M163V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.M197V	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	197	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)														---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132186085	132186085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132186085A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132194193	132194193	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132194193A>G	uc011ecf.1	+						ENPP1_uc003qcy.2_Intron	NM_006208	NP_006199			ectonucleotide pyrophosphatase/phosphodiesterase						3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132636881	132636881	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132636881T>C	uc003qdf.2	-	10	1500	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	MOXD1_uc003qde.2_Silent_p.S399S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	467	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132695860	132695860	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132695860A>G	uc003qdf.2	-	2	420	c.321T>C	c.(319-321)CAT>CAC	p.H107H	MOXD1_uc003qde.2_Silent_p.H39H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	107	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132909949	132909949	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132909949A>C	uc003qdk.2	-	1	929	c.877T>G	c.(877-879)TTT>GTT	p.F293V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	293	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)														---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133072393	133072393	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133072393T>C	uc003qdt.2	-	5	1102	c.1091A>G	c.(1090-1092)GAG>GGG	p.E364G	VNN2_uc003qds.2_Missense_Mutation_p.E73G|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.E311G	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	364					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)														---	---	---	---
C6orf192	116843	broad.mit.edu	37	6	133092043	133092043	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133092043A>G	uc003qdw.1	-	13	1442	c.1290T>C	c.(1288-1290)TAT>TAC	p.Y430Y	C6orf192_uc010kgd.1_RNA	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	430	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133834178	133834178	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133834178T>C	uc003qec.3	+	16	1959	c.1501_splice	c.e16+2	p.G501_splice	EYA4_uc011ecq.1_Splice_Site_p.G447_splice|EYA4_uc011ecr.1_Splice_Site_p.G453_splice|EYA4_uc003qed.3_Splice_Site_p.G501_splice|EYA4_uc003qee.3_Splice_Site_p.G478_splice|EYA4_uc011ecs.1_Splice_Site_p.G507_splice|uc003qeg.1_Intron	NM_004100	NP_004091			eyes absent 4 isoform a						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210807	134210807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210807G>A	uc003qei.3	+	1	548	c.272G>A	c.(271-273)CGC>CAC	p.R91H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.R91H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	91	Basic motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210965	134210965	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134210965T>C	uc003qei.3	+	1	706	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Y144H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	144					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)														---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135271131	135271131	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135271131A>G	uc003qew.2	-	1	114	c.61T>C	c.(61-63)TGT>CGT	p.C21R	ALDH8A1_uc003qex.2_Missense_Mutation_p.C21R|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.C21R	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	21					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135751062	135751062	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135751062A>T	uc003qgi.2	-	18	2834	c.2450T>A	c.(2449-2451)ATC>AAC	p.I817N	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.I267N|AHI1_uc003qgh.2_Missense_Mutation_p.I817N|AHI1_uc003qgj.2_Missense_Mutation_p.I817N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I817N	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	817	WD 5.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135778714	135778714	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135778714A>G	uc003qgi.2	-	9	1453	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P	AHI1_uc003qgh.2_Missense_Mutation_p.S357P|AHI1_uc003qgj.2_Missense_Mutation_p.S357P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S357P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	357						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136173140	136173140	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136173140T>C	uc003qgp.2	+	1	307	c.4T>C	c.(4-6)TCT>CCT	p.S2P		NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	2					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136472325	136472325	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136472325A>G	uc003qgp.2	+	6	713	c.410A>G	c.(409-411)CAC>CGC	p.H137R	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.H189R	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	137					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599062	136599062	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599062G>T	uc003qgx.1	-	4	1210	c.957C>A	c.(955-957)TCC>TCA	p.S319S	BCLAF1_uc003qgw.1_Silent_p.S319S|BCLAF1_uc003qgy.1_Silent_p.S317S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.S317S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	319					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136677924	136677924	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136677924C>T	uc003qgz.2	-	16	2167	c.1921G>A	c.(1921-1923)GCA>ACA	p.A641T	MAP7_uc011edf.1_Missense_Mutation_p.A626T|MAP7_uc011edg.1_Missense_Mutation_p.A671T|MAP7_uc010kgu.2_Missense_Mutation_p.A663T|MAP7_uc011edh.1_Missense_Mutation_p.A626T|MAP7_uc010kgv.2_Missense_Mutation_p.A663T|MAP7_uc010kgs.2_Missense_Mutation_p.A495T|MAP7_uc011edi.1_Missense_Mutation_p.A495T|MAP7_uc010kgq.1_Missense_Mutation_p.A547T|MAP7_uc003qha.1_Missense_Mutation_p.A604T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	641					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187764	137187764	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187764G>A	uc003qhd.2	+	6	629	c.527_splice	c.e6-1	p.G176_splice	PEX7_uc010kgx.2_Splice_Site	NM_000288	NP_000279			peroxisomal biogenesis factor 7						ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187813	137187813	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137187813T>A	uc003qhd.2	+	6	677	c.575T>A	c.(574-576)ATC>AAC	p.I192N	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	192					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)														---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519370	137519370	+	Missense_Mutation	SNP	C	A	A	rs121913188		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519370C>A	uc003qho.2	-	7	1371	c.1268G>T	c.(1267-1269)AGC>ATC	p.S423I	IFNGR1_uc011edm.1_Missense_Mutation_p.S395I	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	423	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519722	137519722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137519722A>G	uc003qho.2	-	7	1019	c.916T>C	c.(916-918)TCA>CCA	p.S306P	IFNGR1_uc011edm.1_Missense_Mutation_p.S278P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	306	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)													---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138583990	138583990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138583990G>A	uc003qhu.2	+	12	1370	c.1370G>A	c.(1369-1371)CGC>CAC	p.R457H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	457					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)														---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139203916	139203916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139203916G>A	uc003qif.1	+	14	2039	c.1936G>A	c.(1936-1938)GTG>ATG	p.V646M	ECT2L_uc011edq.1_Missense_Mutation_p.V577M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	646	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
HECA	51696	broad.mit.edu	37	6	139487472	139487472	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139487472T>C	uc003qin.2	+	2	608	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	108					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)														---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139591760	139591760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139591760C>T	uc011eds.1	-	4	685	c.520G>A	c.(520-522)GAT>AAT	p.D174N		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	174	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)														---	---	---	---
NMBR	4829	broad.mit.edu	37	6	142397169	142397169	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142397169G>A	uc003qiu.2	-	3	930	c.789C>T	c.(787-789)CGC>CGT	p.R263R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	263	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142714119	142714119	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142714119T>G	uc010khc.2	+	8	1754	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	GPR126_uc010khd.2_Missense_Mutation_p.V420G|GPR126_uc010khe.2_Missense_Mutation_p.V448G|GPR126_uc010khf.2_Missense_Mutation_p.V420G	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	448	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142741057	142741057	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142741057G>A	uc010khc.2	+	22	3546	c.3135G>A	c.(3133-3135)GTG>GTA	p.V1045V	GPR126_uc010khd.2_Silent_p.V1017V|GPR126_uc010khe.2_Silent_p.V1045V|GPR126_uc010khf.2_Silent_p.V1017V|GPR126_uc011edv.1_Silent_p.V105V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1045	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142764510	142764510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142764510C>T	uc010khc.2	+	26	4068	c.3657C>T	c.(3655-3657)GGC>GGT	p.G1219G	GPR126_uc010khd.2_Silent_p.G1191G|GPR126_uc010khe.2_Missense_Mutation_p.A1204V|GPR126_uc010khf.2_Missense_Mutation_p.A1176V|GPR126_uc011edv.1_Missense_Mutation_p.A264V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1219	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143093789	143093789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143093789T>C	uc003qjd.2	-	5	2830	c.2087A>G	c.(2086-2088)AAA>AGA	p.K696R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---
STX11	8676	broad.mit.edu	37	6	144507898	144507898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144507898A>G	uc003qks.3	+	2	326	c.134A>G	c.(133-135)TAC>TGC	p.Y45C		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	45	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)										Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144747473	144747473	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144747473T>C	uc003qkt.2	+	6	548	c.456T>C	c.(454-456)AGT>AGC	p.S152S	UTRN_uc010khq.1_Silent_p.S152S	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	152	CH 2.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144750813	144750813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144750813G>A	uc003qkt.2	+	8	883	c.791G>A	c.(790-792)CGT>CAT	p.R264H	UTRN_uc010khq.1_Missense_Mutation_p.R264H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	264	Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144811253	144811253	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144811253T>C	uc003qkt.2	+	30	4273	c.4181T>C	c.(4180-4182)TTG>TCG	p.L1394S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1394	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144835835	144835835	+	Missense_Mutation	SNP	G	A	A	rs115466543	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144835835G>A	uc003qkt.2	+	36	5215	c.5123G>A	c.(5122-5124)CGC>CAC	p.R1708H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.|Spectrin 12.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145156925	145156925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145156925G>A	uc003qkt.2	+	69	9767	c.9675G>A	c.(9673-9675)GAG>GAA	p.E3225E		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3225					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126254	146126254	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146126254A>G	uc003qla.2	-	2	1487	c.1288T>C	c.(1288-1290)TTG>CTG	p.L430L	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	430							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)														---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720540	146720540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146720540T>C	uc010khw.1	+	8	2835	c.2365T>C	c.(2365-2367)TTC>CTC	p.F789L	GRM1_uc010khv.1_Missense_Mutation_p.F789L|GRM1_uc003qll.2_Missense_Mutation_p.F789L|GRM1_uc011edz.1_Missense_Mutation_p.F789L|GRM1_uc011eea.1_Missense_Mutation_p.F789L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	789	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755885	146755885	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146755885G>A	uc010khw.1	+	9	4008	c.3538G>A	c.(3538-3540)GCC>ACC	p.A1180T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1180	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147632675	147632675	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147632675A>G	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147655326	147655326	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147655326T>A	uc003qlz.2	+	19	2275	c.2114T>A	c.(2113-2115)GTT>GAT	p.V705D	STXBP5_uc010khz.1_Missense_Mutation_p.V705D|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V376D|STXBP5_uc003qma.2_Missense_Mutation_p.V52D	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	705					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147705839	147705839	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147705839T>C	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron|uc003qmb.2_5'Flank	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148854021	148854021	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148854021C>T	uc003qme.1	+	14	2128	c.1653C>T	c.(1651-1653)TAC>TAT	p.Y551Y	SASH1_uc011eeb.1_Silent_p.Y312Y|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	551							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865849	148865849	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865849G>C	uc003qme.1	+	18	3718	c.3243G>C	c.(3241-3243)TTG>TTC	p.L1081F	SASH1_uc011eeb.1_Missense_Mutation_p.L842F|SASH1_uc003qmf.1_Missense_Mutation_p.L491F	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1081							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
UST	10090	broad.mit.edu	37	6	149340278	149340278	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149340278A>G	uc003qmg.2	+	6	981	c.685A>G	c.(685-687)ATC>GTC	p.I229V		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	229	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)														---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149699659	149699659	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149699659C>T	uc003qmj.2	+	3	786	c.608C>T	c.(607-609)CCT>CTT	p.P203L	TAB2_uc011eec.1_Missense_Mutation_p.P171L|TAB2_uc010kia.1_Missense_Mutation_p.P203L|TAB2_uc010kib.1_Missense_Mutation_p.P203L|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	203					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700267	149700267	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149700267A>G	uc003qmj.2	+	3	1394	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A	TAB2_uc011eec.1_Missense_Mutation_p.T374A|TAB2_uc010kia.1_Missense_Mutation_p.T406A|TAB2_uc010kib.1_Missense_Mutation_p.T406A|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149862572	149862572	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149862572A>G	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
C6orf72	116254	broad.mit.edu	37	6	149900053	149900053	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149900053T>C	uc003qmq.1	+	4	400	c.373T>C	c.(373-375)TCC>CCC	p.S125P	C6orf72_uc010kie.1_Missense_Mutation_p.S5P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	125	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149924471	149924471	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149924471A>G	uc003qmr.1	-	5	707	c.662T>C	c.(661-663)CTT>CCT	p.L221P	KATNA1_uc003qms.2_Missense_Mutation_p.L221P|KATNA1_uc003qmt.2_Intron|KATNA1_uc011eed.1_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	221					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149944357	149944357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149944357T>C	uc003qmr.1	-	3	428	c.383A>G	c.(382-384)AAT>AGT	p.N128S	KATNA1_uc003qms.2_Missense_Mutation_p.N128S|KATNA1_uc003qmt.2_Missense_Mutation_p.N128S|KATNA1_uc011eed.1_Missense_Mutation_p.N128S	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	128	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001426	150001426	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001426A>G	uc003qmu.1	-	5	2726	c.2178T>C	c.(2176-2178)GAT>GAC	p.D726D	LATS1_uc010kif.1_Silent_p.D621D|LATS1_uc003qmv.1_Silent_p.D726D	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	726	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001570	150001570	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150001570C>A	uc003qmu.1	-	5	2582	c.2034G>T	c.(2032-2034)CAG>CAT	p.Q678H	LATS1_uc010kif.1_Missense_Mutation_p.Q573H|LATS1_uc003qmv.1_Missense_Mutation_p.Q678H	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	678					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
IYD	389434	broad.mit.edu	37	6	150713543	150713543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150713543G>A	uc003qnu.1	+	3	573	c.433G>A	c.(433-435)GTG>ATG	p.V145M	IYD_uc003qnv.1_Missense_Mutation_p.V145M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V145M|IYD_uc010kik.1_Missense_Mutation_p.V63M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	145	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151270190	151270190	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151270190T>C	uc003qob.2	+	16	1915	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.D550D|MTHFD1L_uc003qoc.2_Silent_p.D497D	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	549	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151331062	151331062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151331062C>T	uc003qob.2	+	21	2501	c.2233C>T	c.(2233-2235)CGA>TGA	p.R745*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.R746*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.R693*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	745	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)														---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151687891	151687891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151687891C>T	uc003qoh.2	-	3	445	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)														---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151790133	151790133	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151790133C>T	uc003qok.1	+	5	1473	c.1214C>T	c.(1213-1215)GCT>GTT	p.A405V	C6orf211_uc011ees.1_Missense_Mutation_p.A286V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	405							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---
C6orf97	80129	broad.mit.edu	37	6	151869554	151869554	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151869554T>C	uc003qol.2	+	5	793	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	235	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152415579	152415579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152415579C>T	uc003qom.3	+	9	1799	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	ESR1_uc010kin.2_Nonsense_Mutation_p.R477*|ESR1_uc010kio.2_Nonsense_Mutation_p.R479*|ESR1_uc010kip.2_Nonsense_Mutation_p.R476*|ESR1_uc003qon.3_Nonsense_Mutation_p.R477*|ESR1_uc003qoo.3_Nonsense_Mutation_p.R477*|ESR1_uc010kiq.2_Nonsense_Mutation_p.R75*|ESR1_uc010kir.2_Nonsense_Mutation_p.R216*|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Nonsense_Mutation_p.R62*|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Nonsense_Mutation_p.R146*|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	477	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)													---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152453334	152453334	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152453334A>T	uc010kiw.2	-	144	26619	c.26017T>A	c.(26017-26019)TCT>ACT	p.S8673T	SYNE1_uc010kiv.2_Missense_Mutation_p.S3197T|SYNE1_uc003qos.3_Missense_Mutation_p.S3197T|SYNE1_uc003qot.3_Missense_Mutation_p.S8625T|SYNE1_uc003qou.3_Missense_Mutation_p.S8673T|SYNE1_uc003qop.3_Missense_Mutation_p.S858T|SYNE1_uc011eez.1_Missense_Mutation_p.S875T|SYNE1_uc003qoq.3_Missense_Mutation_p.S875T|SYNE1_uc003qor.3_Missense_Mutation_p.S1596T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8673	Ser-rich.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152473104	152473104	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152473104C>T	uc010kiw.2	-	134	24904	c.24302G>A	c.(24301-24303)CGC>CAC	p.R8101H	SYNE1_uc010kiv.2_Missense_Mutation_p.R2625H|SYNE1_uc003qos.3_Missense_Mutation_p.R2625H|SYNE1_uc003qot.3_Missense_Mutation_p.R8030H|SYNE1_uc003qou.3_Missense_Mutation_p.R8101H|SYNE1_uc003qop.3_Missense_Mutation_p.R263H|SYNE1_uc011eez.1_Missense_Mutation_p.R303H|SYNE1_uc003qoq.3_Missense_Mutation_p.R303H|SYNE1_uc003qor.3_Missense_Mutation_p.R1001H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8101	Spectrin 29.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152558018	152558018	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152558018G>A	uc010kiw.2	-	109	20735	c.20133C>T	c.(20131-20133)AGC>AGT	p.S6711S	SYNE1_uc010kiv.2_Silent_p.S1235S|SYNE1_uc003qos.3_Silent_p.S1235S|SYNE1_uc003qot.3_Silent_p.S6640S|SYNE1_uc003qou.3_Silent_p.S6711S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6711	Cytoplasmic (Potential).|Potential.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152599230	152599230	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152599230G>A	uc010kiw.2	-	98	19169	c.18567C>T	c.(18565-18567)AAC>AAT	p.N6189N	SYNE1_uc010kiv.2_Silent_p.N713N|SYNE1_uc003qos.3_Silent_p.N713N|SYNE1_uc003qot.3_Silent_p.N6118N|SYNE1_uc003qou.3_Silent_p.N6189N|SYNE1_uc010kiy.1_Silent_p.N368N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6189	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152652942	152652942	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152652942T>C	uc010kiw.2	-	78	13480	c.12878A>G	c.(12877-12879)GAA>GGA	p.E4293G	SYNE1_uc003qot.3_Missense_Mutation_p.E4222G|SYNE1_uc003qou.3_Missense_Mutation_p.E4293G|SYNE1_uc010kiz.2_Missense_Mutation_p.E48G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4293	Cytoplasmic (Potential).|Spectrin 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152757241	152757241	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152757241A>G	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771898	152771898	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771898A>G	uc010kiw.2	-	27	3859	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	SYNE1_uc003qot.3_Missense_Mutation_p.V1093A|SYNE1_uc003qou.3_Missense_Mutation_p.V1086A|SYNE1_uc010kjb.1_Missense_Mutation_p.V1069A|SYNE1_uc003qow.2_Missense_Mutation_p.V381A|SYNE1_uc003qox.1_Missense_Mutation_p.V602A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1086	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152771937	152771937	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152771937A>T	uc010kiw.2	-	27	3820	c.3218T>A	c.(3217-3219)CTC>CAC	p.L1073H	SYNE1_uc003qot.3_Missense_Mutation_p.L1080H|SYNE1_uc003qou.3_Missense_Mutation_p.L1073H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1056H|SYNE1_uc003qow.2_Missense_Mutation_p.L368H|SYNE1_uc003qox.1_Missense_Mutation_p.L589H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1073	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153043137	153043137	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153043137G>T	uc003qpd.3	+	2	465	c.457G>T	c.(457-459)GCA>TCA	p.A153S	MYCT1_uc010kjc.1_Missense_Mutation_p.A105S|MYCT1_uc003qpc.3_Missense_Mutation_p.A153S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	153						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---
FBXO5	26271	broad.mit.edu	37	6	153293537	153293537	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153293537A>C	uc003qpg.2	-	4	1071	c.962T>G	c.(961-963)TTC>TGC	p.F321C	FBXO5_uc003qph.2_Missense_Mutation_p.F275C	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)														---	---	---	---
MTRF1L	54516	broad.mit.edu	37	6	153312324	153312324	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153312324A>T	uc003qpi.3	-	6	1043	c.938T>A	c.(937-939)ATT>AAT	p.I313N	MTRF1L_uc003qpl.3_Intron|MTRF1L_uc011efa.1_Missense_Mutation_p.I277N|MTRF1L_uc003qpj.3_Missense_Mutation_p.I171N|MTRF1L_uc003qpk.3_Intron	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	313						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)														---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360916	154360916	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154360916C>T	uc003qpr.2	+	1	474	c.237C>T	c.(235-237)ATC>ATT	p.I79I	OPRM1_uc011efb.1_Silent_p.I127I|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.I172I|OPRM1_uc003qpn.2_Silent_p.I79I|OPRM1_uc003qpo.1_Silent_p.I79I|OPRM1_uc011eff.1_Silent_p.I79I|OPRM1_uc011efg.1_Silent_p.I79I|OPRM1_uc011efh.1_Silent_p.I79I|OPRM1_uc003qpq.1_Silent_p.I79I|OPRM1_uc003qpt.1_Silent_p.I79I|OPRM1_uc011efi.1_Silent_p.I79I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	79	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154414463	154414463	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154414463A>G	uc003qpr.2	+						OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Intron|OPRM1_uc003qpo.1_Missense_Mutation_p.Y408C|OPRM1_uc011eff.1_Intron|OPRM1_uc011efg.1_Intron|OPRM1_uc011efh.1_Intron|OPRM1_uc003qpq.1_Intron|OPRM1_uc003qpt.1_Intron|OPRM1_uc011efi.1_Intron|OPRM1_uc003qpp.2_Intron|OPRM1_uc003qps.2_Intron|OPRM1_uc010kjg.2_Intron	NM_000914	NP_000905			opioid receptor, mu 1 isoform MOR-1						behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155113964	155113964	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155113964T>C	uc003qqa.2	+	6	561	c.329T>C	c.(328-330)ATA>ACA	p.I110T	RBM16_uc011efj.1_Missense_Mutation_p.I176T|RBM16_uc011efk.1_Missense_Mutation_p.I155T|RBM16_uc003qpz.2_Missense_Mutation_p.I110T|RBM16_uc010kji.2_Missense_Mutation_p.I131T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	110	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
RBM16	22828	broad.mit.edu	37	6	155153655	155153655	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155153655G>T	uc003qqa.2	+	21	3174	c.2942G>T	c.(2941-2943)AGA>ATA	p.R981I	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.R1047I|RBM16_uc011efk.1_Missense_Mutation_p.R1026I|RBM16_uc003qpz.2_Missense_Mutation_p.R981I|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	981	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155503432	155503432	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155503432A>G	uc003qqb.2	+	15	4053	c.2780A>G	c.(2779-2781)GAT>GGT	p.D927G	TIAM2_uc003qqe.2_Missense_Mutation_p.D927G|TIAM2_uc010kjj.2_Missense_Mutation_p.D460G|TIAM2_uc003qqf.2_Missense_Mutation_p.D303G|TIAM2_uc011efl.1_Missense_Mutation_p.D263G|TIAM2_uc003qqg.2_Missense_Mutation_p.D239G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	927	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155577773	155577773	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155577773A>G	uc003qqb.2	+	29	5897	c.4624A>G	c.(4624-4626)AAG>GAG	p.K1542E	TIAM2_uc003qqe.2_Missense_Mutation_p.K1542E|TIAM2_uc010kjj.2_Missense_Mutation_p.K1104E|TIAM2_uc003qqf.2_Missense_Mutation_p.K918E|TIAM2_uc011efl.1_Missense_Mutation_p.K886E|TIAM2_uc003qqg.2_Missense_Mutation_p.K854E|TIAM2_uc003qqh.2_Missense_Mutation_p.K467E|uc003qqi.1_RNA	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1542					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157470090	157470090	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157470090G>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron|ARID1B_uc003qqq.1_Missense_Mutation_p.A333T|ARID1B_uc010kjl.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157495225	157495225	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157495225A>G	uc003qqn.2	+	10	3048	c.2896A>G	c.(2896-2898)ACT>GCT	p.T966A	ARID1B_uc003qqo.2_Missense_Mutation_p.T979A|ARID1B_uc003qqp.2_Missense_Mutation_p.T966A|ARID1B_uc010kjl.2_Missense_Mutation_p.T164A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511165	157511165	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157511165T>A	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157525017	157525017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157525017C>T	uc003qqn.2	+	19	5010	c.4858C>T	c.(4858-4860)CGT>TGT	p.R1620C	ARID1B_uc003qqo.2_Missense_Mutation_p.R1580C|ARID1B_uc003qqp.2_Missense_Mutation_p.R1567C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1625					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
C6orf35	729515	broad.mit.edu	37	6	157714011	157714011	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157714011T>G	uc003sih.3	-	4	611	c.348A>C	c.(346-348)AAA>AAC	p.K116N		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	116						integral to membrane					0																		---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158532390	158532390	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158532390C>T	uc003qrc.2	-	17					SERAC1_uc003qrb.2_3'UTR	NM_032861	NP_116250			serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158873219	158873219	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158873219G>A	uc003qrf.2	+	5	2135	c.778G>A	c.(778-780)GTC>ATC	p.V260I	TULP4_uc011efo.1_Missense_Mutation_p.V260I|TULP4_uc003qrg.2_Missense_Mutation_p.V260I	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	260					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158925039	158925039	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158925039G>A	uc003qrf.2	+	13	5701	c.4344G>A	c.(4342-4344)CGG>CGA	p.R1448R	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1448					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159457718	159457718	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159457718G>A	uc003qrz.2	-	10	1669	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	TAGAP_uc011eft.1_Missense_Mutation_p.A383V|TAGAP_uc003qsa.2_Missense_Mutation_p.A268V	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653499	159653499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159653499G>A	uc010kjv.2	+	11	2155	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H	FNDC1_uc010kjw.1_Missense_Mutation_p.R537H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159654614	159654614	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159654614G>A	uc010kjv.2	+	11	3270	c.3070G>A	c.(3070-3072)GCG>ACG	p.A1024T	FNDC1_uc010kjw.1_Missense_Mutation_p.A909T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1024						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
MRPL18	29074	broad.mit.edu	37	6	160219095	160219095	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160219095A>T	uc003qsw.3	+	4	611	c.483A>T	c.(481-483)CTA>CTT	p.L161L	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	161					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)														---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160221765	160221765	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160221765T>A	uc003qsx.1	+	2	176	c.5T>A	c.(4-6)TTC>TAC	p.F2Y	PNLDC1_uc003qsy.1_Intron	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	2						integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328535	160328535	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160328535A>T	uc003qsz.2	+	1	562	c.548A>T	c.(547-549)GAC>GTC	p.D183V		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	183	Extracellular (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160469473	160469473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160469473C>T	uc003qta.2	+	18	2560	c.2412C>T	c.(2410-2412)GTC>GTT	p.V804V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	804	6.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160482540	160482540	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160482540G>A	uc003qta.2	+	24	3416	c.3268G>A	c.(3268-3270)GCT>ACT	p.A1090T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1090	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160484579	160484579	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160484579A>T	uc003qta.2	+	27	3951	c.3803A>T	c.(3802-3804)GAC>GTC	p.D1268V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1268	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
PLG	5340	broad.mit.edu	37	6	161127481	161127481	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161127481C>T	uc003qtm.3	+	2	155	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	31	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161173138	161173138	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161173138T>A	uc003qtm.3	+							NM_000301	NP_000292			plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161781224	161781224	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161781224T>C	uc003qtx.3	-	11	1315	c.1181A>G	c.(1180-1182)GAT>GGT	p.D394G	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D203G|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.D366G|PARK2_uc003qtz.3_Missense_Mutation_p.D245G|PARK2_uc011egf.1_Missense_Mutation_p.D68G	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	394					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715755	165715755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715755G>A	uc003qum.3	-	2	92	c.56C>T	c.(55-57)CCA>CTA	p.P19L	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	19											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165806270	165806270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165806270C>T	uc003qun.2	-	17	1732	c.1491G>A	c.(1489-1491)AAG>AAA	p.K497K	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K427K|PDE10A_uc003quo.2_Silent_p.K507K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	497					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)													---	---	---	---
T	6862	broad.mit.edu	37	6	166571914	166571914	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166571914T>C	uc003quu.1	-	9	1690	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	T_uc003qut.1_Silent_p.P400P|T_uc003quv.1_Silent_p.P341P	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	399					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										Chordoma_Familial_Clustering_of				---	---	---	---
BRP44L	51660	broad.mit.edu	37	6	166779545	166779545	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166779545C>T	uc011egn.1	-	3	344	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	BRP44L_uc003qva.2_RNA	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN	brain protein 44-like	74						mitochondrion				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166902367	166902367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166902367C>T	uc003qvb.1	-	10	1080	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	RPS6KA2_uc011ego.1_Silent_p.Q198Q|RPS6KA2_uc010kkl.1_Silent_p.Q198Q|RPS6KA2_uc003qvc.1_Silent_p.Q295Q|RPS6KA2_uc003qvd.1_Silent_p.Q312Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	287	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166944731	166944731	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166944731G>T	uc003qvb.1	-	3	506	c.287C>A	c.(286-288)GCC>GAC	p.A96D	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7D|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7D|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104D|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A121D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	96	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754976	167754976	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167754976T>C	uc003qvs.1	+	3	1676	c.1588T>C	c.(1588-1590)TCG>CCG	p.S530P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	530					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168344744	168344744	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168344744G>T	uc003qwd.2	+						MLLT4_uc003qwb.1_Intron|MLLT4_uc003qwc.1_Intron|MLLT4_uc003qwg.1_Intron	NM_001040001	NP_001035090			myeloid/lymphoid or mixed-lineage leukemia						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168947785	168947785	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168947785C>T	uc003qws.1	+						SMOC2_uc003qwr.1_Silent_p.S177S	NM_022138	NP_071421			SPARC related modular calcium binding 2						signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168999591	168999591	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168999591G>A	uc003qws.1	+	8	751	c.731G>A	c.(730-732)GGC>GAC	p.G244D	SMOC2_uc003qwr.1_Missense_Mutation_p.G255D	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	244	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169053890	169053890	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169053890G>A	uc003qws.1	+	11	1287	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	SMOC2_uc003qwr.1_Missense_Mutation_p.D434N|SMOC2_uc011egu.1_Missense_Mutation_p.D100N	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	423					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169625300	169625300	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169625300C>T	uc003qwt.2	-	18	2961	c.2713G>A	c.(2713-2715)GTC>ATC	p.V905I		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	905	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)														---	---	---	---
TCTE3	6991	broad.mit.edu	37	6	170151476	170151476	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170151476G>A	uc003qxe.1	-	1	163	c.79C>T	c.(79-81)CCT>TCT	p.P27S	TCTE3_uc003qxf.2_RNA|C6orf70_uc003qxg.1_5'Flank|C6orf70_uc011ehb.1_5'Flank|C6orf70_uc003qxh.1_5'Flank|C6orf70_uc010kky.1_5'Flank	NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	27					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)														---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170176102	170176102	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170176102T>A	uc003qxg.1	+	15	1494	c.1461T>A	c.(1459-1461)TAT>TAA	p.Y487*	C6orf70_uc011ehb.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxh.1_Nonsense_Mutation_p.Y487*|C6orf70_uc010kky.1_Nonsense_Mutation_p.Y361*|C6orf70_uc003qxi.1_Nonsense_Mutation_p.Y135*	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	487						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627418	170627418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170627418T>G	uc003qxp.2	+	2	1048	c.940T>G	c.(940-942)TTT>GTT	p.F314V	FAM120B_uc003qxo.1_Missense_Mutation_p.F314V|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	314					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)														---	---	---	---
HEATR2	54919	broad.mit.edu	37	7	810177	810177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:810177A>G	uc010krz.1	+	9	1873	c.1853A>G	c.(1852-1854)GAC>GGC	p.D618G	HEATR2_uc003siz.2_Missense_Mutation_p.D486G|HEATR2_uc003sja.2_Missense_Mutation_p.D76G|HEATR2_uc003sjb.2_5'UTR|HEATR2_uc003sjc.2_Missense_Mutation_p.D43G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	618	HEAT 7.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883126	883126	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883126G>A	uc011jvp.1	+	6	706	c.627G>A	c.(625-627)TCG>TCA	p.S209S	SUN1_uc010ksa.1_Silent_p.S230S|SUN1_uc003sje.1_Silent_p.S209S|SUN1_uc003sjf.2_Silent_p.S159S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.S20S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	209	SYNE2-binding.|Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
GPR146	115330	broad.mit.edu	37	7	1097377	1097377	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1097377C>T	uc003sjw.2	+	2	302	c.226C>T	c.(226-228)CTC>TTC	p.L76F	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.L76F|GPR146_uc003sjy.1_Missense_Mutation_p.L76F	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
GPER	2852	broad.mit.edu	37	7	1131927	1131927	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1131927C>T	uc010ksd.1	+	2	952	c.563C>T	c.(562-564)GCC>GTC	p.A188V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A188V|GPER_uc003ska.1_Missense_Mutation_p.A188V|GPER_uc003skb.2_Missense_Mutation_p.A188V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	188	Helical; Name=4; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)														---	---	---	---
UNCX	340260	broad.mit.edu	37	7	1273256	1273256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1273256C>T	uc011jvw.1	+	2	375	c.375C>T	c.(373-375)AAC>AAT	p.N125N		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	125	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1513960	1513960	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1513960G>T	uc003skn.2	-	41	5774	c.5673C>A	c.(5671-5673)CGC>CGA	p.R1891R	INTS1_uc003skm.1_Silent_p.R28R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1891					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1526379	1526379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1526379C>T	uc003skn.2	-	22	2959	c.2858G>A	c.(2857-2859)CGC>CAC	p.R953H	INTS1_uc003skp.1_Missense_Mutation_p.R300H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	953					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1538925	1538925	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1538925G>A	uc003skn.2	-	7	1017	c.916C>T	c.(916-918)CTG>TTG	p.L306L	INTS1_uc003skq.2_Silent_p.L306L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	306					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	1855722	1855722	+	Missense_Mutation	SNP	C	T	T	rs148957172	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1855722C>T	uc003slh.1	-	19	2407	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	MAD1L1_uc003sle.1_Missense_Mutation_p.R443H|MAD1L1_uc003slf.1_Missense_Mutation_p.R714H|MAD1L1_uc003slg.1_Missense_Mutation_p.R714H|MAD1L1_uc010ksh.1_Missense_Mutation_p.R714H|MAD1L1_uc003sli.1_Missense_Mutation_p.R622H|MAD1L1_uc003sld.1_Missense_Mutation_p.R170H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	714					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2262372	2262372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2262372G>A	uc003slh.1	-	5	575	c.309C>T	c.(307-309)AAC>AAT	p.N103N	MAD1L1_uc003slf.1_Silent_p.N103N|MAD1L1_uc003slg.1_Silent_p.N103N|MAD1L1_uc010ksh.1_Silent_p.N103N|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.N56N|MAD1L1_uc010ksj.2_Silent_p.N103N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	103	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)														---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2311504	2311504	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2311504A>G	uc003slw.2	-	4	564	c.521T>C	c.(520-522)TTC>TCC	p.F174S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	174	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)														---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2770886	2770886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2770886C>T	uc003smu.2	-	4	1239	c.1075G>A	c.(1075-1077)GTC>ATC	p.V359I	GNA12_uc011jwb.1_Missense_Mutation_p.V342I|GNA12_uc003smt.2_Missense_Mutation_p.V300I	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	359					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2951840	2951840	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2951840A>T	uc003smv.2	-	23	3514	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1037	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)				Mis		DLBCL								---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4116654	4116654	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4116654A>G	uc003smx.2	+	21	3174	c.3035A>G	c.(3034-3036)TAC>TGC	p.Y1012C	SDK1_uc010kso.2_Missense_Mutation_p.Y288C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1012	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Y1012Y(1)		large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4277380	4277380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4277380C>T	uc003smx.2	+	42	6233	c.6094C>T	c.(6094-6096)CAC>TAC	p.H2032Y	SDK1_uc010kso.2_Missense_Mutation_p.H1288Y|SDK1_uc003smy.2_Missense_Mutation_p.H519Y|SDK1_uc003smz.2_Missense_Mutation_p.H92Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2032	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4780606	4780606	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4780606A>G	uc003snc.1	+	2	708	c.698A>G	c.(697-699)GAC>GGC	p.D233G	FOXK1_uc003sna.1_Missense_Mutation_p.D70G|FOXK1_uc003snb.1_Missense_Mutation_p.D233G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	233					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)														---	---	---	---
KIAA0415	9907	broad.mit.edu	37	7	4825911	4825911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4825911T>A	uc003sne.2	+	10	1246	c.1163T>A	c.(1162-1164)GTC>GAC	p.V388D	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	388					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)														---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901085	4901085	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4901085G>A	uc003snk.2	-	1	541	c.357C>T	c.(355-357)TGC>TGT	p.C119C	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	118					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4965157	4965157	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4965157C>T	uc003sno.3	-	2	250	c.54G>A	c.(52-54)ATG>ATA	p.M18I	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.M18I|MMD2_uc010ksq.2_Missense_Mutation_p.M18I	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	18	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)														---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104918	5104918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5104918A>G	uc010kss.1	+	6	2155	c.1831A>G	c.(1831-1833)ACT>GCT	p.T611A	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.T611A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	611	C2H2-type 13.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5232779	5232779	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5232779T>A	uc003snv.2	+	2	321	c.105T>A	c.(103-105)GGT>GGA	p.G35G	WIPI2_uc003snw.2_Silent_p.G35G|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	35					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5265492	5265492	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5265492G>A	uc003snv.2	+	9	995	c.779G>A	c.(778-780)GGC>GAC	p.G260D	WIPI2_uc003snw.2_Missense_Mutation_p.G260D|WIPI2_uc003snx.2_Missense_Mutation_p.G242D|WIPI2_uc003sny.2_Missense_Mutation_p.G242D|WIPI2_uc010ksv.2_Missense_Mutation_p.G116D|WIPI2_uc003soa.2_Missense_Mutation_p.G201D|WIPI2_uc003sob.2_Missense_Mutation_p.G3D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	260	WD 2.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352438	5352438	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5352438G>A	uc003soi.3	-	27	8433	c.8084C>T	c.(8083-8085)GCG>GTG	p.A2695V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2695							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5427427	5427427	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5427427T>A	uc003soi.3	-	5	2377	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	TNRC18_uc010ksx.1_Missense_Mutation_p.E602D	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	676							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6017399	6017399	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6017399A>G	uc003spl.2	-						PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526			PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6064312	6064312	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6064312C>T	uc003spp.2	-	15	2031	c.1885G>A	c.(1885-1887)GTG>ATG	p.V629M	EIF2AK1_uc003spq.2_Missense_Mutation_p.V628M|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	629					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)														---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476083	7476083	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7476083T>C	uc003src.1	-	23	1920	c.1803A>G	c.(1801-1803)GGA>GGG	p.G601G	COL28A1_uc011jxe.1_Silent_p.G284G|COL28A1_uc003srd.2_Silent_p.G156G|COL28A1_uc003sre.1_Silent_p.G22G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	601					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7625282A>G	uc003srf.2	+	7	1972	c.1664A>G	c.(1663-1665)AAT>AGT	p.N555S	MIOS_uc003srg.2_Missense_Mutation_p.N90S|MIOS_uc010ktq.2_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	555											0																		---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7636009	7636009	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7636009C>T	uc003srf.2	+	11	2626	c.2318C>T	c.(2317-2319)ACA>ATA	p.T773I	MIOS_uc003srg.2_Missense_Mutation_p.T308I|MIOS_uc010ktq.2_Missense_Mutation_p.T168I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	773											0																		---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8272362	8272362	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8272362T>A	uc003srm.2	-	3	108	c.41A>T	c.(40-42)GAT>GTT	p.D14V	ICA1_uc010ktr.2_Missense_Mutation_p.D14V|ICA1_uc003srl.2_Missense_Mutation_p.D2V|ICA1_uc003srn.3_5'UTR|ICA1_uc003srp.3_Missense_Mutation_p.D13V|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.D14V|ICA1_uc003srr.2_Missense_Mutation_p.D13V|ICA1_uc003sro.3_Missense_Mutation_p.D14V|ICA1_uc011jxg.1_Missense_Mutation_p.D14V|ICA1_uc003srs.1_Missense_Mutation_p.D14V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	14					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10977710	10977710	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10977710A>G	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
NDUFA4	4697	broad.mit.edu	37	7	10979632	10979632	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:10979632C>T	uc003srx.1	-							NM_002489	NP_002480			NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)													---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11101630	11101630	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11101630T>C	uc003sry.1	+	16	3007	c.2572T>C	c.(2572-2574)TTG>CTG	p.L858L	PHF14_uc011jxi.1_Silent_p.L573L|PHF14_uc003srz.2_Silent_p.L858L|PHF14_uc011jxj.1_Silent_p.L573L	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	858							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)														---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11422208	11422208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11422208C>A	uc003ssf.3	-	23	4699	c.4447G>T	c.(4447-4449)GCT>TCT	p.A1483S	uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1483	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676020	11676020	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11676020G>T	uc003ssf.3	-	2	1011	c.759C>A	c.(757-759)TAC>TAA	p.Y253*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	253	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12270750	12270750	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12270750A>G	uc011jxk.1	+						TMEM106B_uc003ssh.2_Intron	NM_018374	NP_060844			transmembrane protein 106B							integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12271530	12271530	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12271530G>A	uc011jxk.1	+	9	1154	c.754G>A	c.(754-756)GAC>AAC	p.D252N	TMEM106B_uc003ssh.2_Missense_Mutation_p.D252N	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	252						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14724957	14724957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:14724957G>A	uc003ssz.2	-	9	929	c.742C>T	c.(742-744)CGA>TGA	p.R248*	DGKB_uc011jxt.1_Nonsense_Mutation_p.R241*|DGKB_uc003sta.2_Nonsense_Mutation_p.R248*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R248*|DGKB_uc011jxv.1_Nonsense_Mutation_p.R248*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	248	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)													---	---	---	---
SOSTDC1	25928	broad.mit.edu	37	7	16505200	16505200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16505200G>T	uc003stg.2	-	1	275	c.94C>A	c.(94-96)CTT>ATT	p.L32I	SOSTDC1_uc003sth.2_Missense_Mutation_p.L32I	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	32					Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)														---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20180770	20180770	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20180770T>A	uc003sus.3	-	7	2667	c.2358A>T	c.(2356-2358)AAA>AAT	p.K786N	MACC1_uc010kug.2_Missense_Mutation_p.K786N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	786					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20199707	20199707	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20199707T>A	uc003sus.3	-	5	586	c.277A>T	c.(277-279)ATT>TTT	p.I93F	MACC1_uc010kug.2_Missense_Mutation_p.I93F	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	93					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20449319	20449319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20449319T>C	uc003suu.2	+	13	2810	c.2105T>C	c.(2104-2106)CTG>CCG	p.L702P	ITGB8_uc011jyh.1_Missense_Mutation_p.L567P	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	702	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20666232	20666232	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20666232A>T	uc010kuh.2	+	3	343	c.106A>T	c.(106-108)ATA>TTA	p.I36L		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	689	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20778637	20778637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21603998	21603998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21603998A>T	uc003svc.2	+	6	1208	c.1177A>T	c.(1177-1179)AAT>TAT	p.N393Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	393	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21906122	21906122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21906122A>T	uc003svc.2	+	72	11583	c.11552A>T	c.(11551-11553)GAC>GTC	p.D3851V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3851					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21923982	21923982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21923982G>A	uc003svc.2	+	77	12513	c.12482G>A	c.(12481-12483)CGC>CAC	p.R4161H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4161					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23164720	23164720	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23164720A>G	uc003svs.3	+	4	664	c.371A>G	c.(370-372)TAT>TGT	p.Y124C	KLHL7_uc003svr.3_Missense_Mutation_p.Y102C|KLHL7_uc011jys.1_Missense_Mutation_p.Y48C|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Y76C|KLHL7_uc003svp.2_Missense_Mutation_p.Y102C|KLHL7_uc003svq.2_Missense_Mutation_p.Y124C|KLHL7_uc011jyu.1_Missense_Mutation_p.Y102C	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	124						Golgi apparatus|nucleolus|plasma membrane					0																		---	---	---	---
C7orf46	340277	broad.mit.edu	37	7	23724154	23724154	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23724154T>A	uc003swo.3	+	2	191	c.102T>A	c.(100-102)ACT>ACA	p.T34T	C7orf46_uc003swq.3_Silent_p.T34T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	34											0																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23751728	23751728	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23751728A>T	uc003sws.3	+	2	128	c.61A>T	c.(61-63)ATT>TTT	p.I21F	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Missense_Mutation_p.I21F|STK31_uc010kuq.2_5'UTR	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	21							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23776518	23776518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23776518T>C	uc003sws.3	+						STK31_uc003swt.3_Intron|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Intron	NM_031414	NP_113602			serine/threonine kinase 31 isoform a								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
STK31	56164	broad.mit.edu	37	7	23809300	23809300	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23809300C>T	uc003sws.3	+	13	1705	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D	STK31_uc003swt.3_Silent_p.D523D|STK31_uc011jze.1_Silent_p.D546D|STK31_uc010kuq.2_Silent_p.D523D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	546							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26724393	26724393	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26724393A>C	uc003syc.2	-	11	1242	c.949T>G	c.(949-951)TCA>GCA	p.S317A	SKAP2_uc011jzi.1_Missense_Mutation_p.S145A|SKAP2_uc011jzj.1_Missense_Mutation_p.S302A	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	317	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27141056	27141056	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27141056G>A	uc003syh.2	-	2	695	c.420C>T	c.(418-420)GGC>GGT	p.G140G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	140						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27147767	27147767	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27147767C>T	uc011jzl.1	-	3	1299	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	HOXA3_uc011jzk.1_Missense_Mutation_p.V209M|HOXA3_uc003syk.2_Missense_Mutation_p.V367M	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27149900	27149900	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27149900C>T	uc011jzl.1	-	2	560	c.360G>A	c.(358-360)CCG>CCA	p.P120P	HOXA3_uc011jzk.1_Splice_Site|HOXA3_uc003syk.2_Silent_p.P120P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27150214	27150214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27150214A>G	uc011jzl.1	-	2	246	c.46T>C	c.(46-48)TAC>CAC	p.Y16H	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.Y16H	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	16					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29111986	29111986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29111986G>A	uc003szv.2	-	8	782	c.663C>T	c.(661-663)AAC>AAT	p.N221N	CPVL_uc003szw.2_Silent_p.N221N|CPVL_uc003szx.2_Silent_p.N221N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	221					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29160521	29160521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29160521T>C	uc003szv.2	-	2	276	c.157A>G	c.(157-159)AAG>GAG	p.K53E	CPVL_uc003szw.2_Missense_Mutation_p.K53E|CPVL_uc003szx.2_Missense_Mutation_p.K53E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	53					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2																		---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29552310	29552310	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29552310A>G	uc003szz.2	+	13	1803	c.1366A>G	c.(1366-1368)ATT>GTT	p.I456V	CHN2_uc011jzs.1_Missense_Mutation_p.I531V|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.I421V|CHN2_uc011jzt.1_Missense_Mutation_p.I469V|CHN2_uc010kvd.2_Missense_Mutation_p.I312V|CHN2_uc011jzu.1_Missense_Mutation_p.I441V|CHN2_uc010kvg.2_Missense_Mutation_p.I274V|CHN2_uc010kvh.2_Missense_Mutation_p.I216V|CHN2_uc010kvi.2_Missense_Mutation_p.I248V|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.I320V|CHN2_uc010kvf.2_Missense_Mutation_p.I262V|CHN2_uc010kvj.2_Missense_Mutation_p.I229V|CHN2_uc010kvk.2_Missense_Mutation_p.I131V|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.I275V|CHN2_uc011jzv.1_Missense_Mutation_p.I249V	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	456	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2																		---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30094922	30094922	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30094922T>A	uc003tam.1	+	9	1094	c.1003T>A	c.(1003-1005)TTC>ATC	p.F335I	PLEKHA8_uc003tao.2_Missense_Mutation_p.F219I|PLEKHA8_uc003tap.1_Missense_Mutation_p.F335I|PLEKHA8_uc003tan.2_Missense_Mutation_p.F335I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	335					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30490868	30490868	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30490868T>C	uc003tav.2	-	6	2688	c.2165A>G	c.(2164-2166)GAG>GGG	p.E722G		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	722	LRR 2.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491688	30491688	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30491688G>A	uc003tav.2	-	6	1868	c.1345C>T	c.(1345-1347)CCA>TCA	p.P449S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	449	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---
GARS	2617	broad.mit.edu	37	7	30661016	30661016	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30661016T>A	uc003tbm.2	+	11	1724	c.1367T>A	c.(1366-1368)ATT>AAT	p.I456N		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	456					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30693176	30693176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30693176T>C	uc003tbn.2	-	12	1380	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.D378G|CRHR2_uc010kvy.1_Missense_Mutation_p.D215G|CRHR2_uc003tbo.2_Missense_Mutation_p.D365G|CRHR2_uc003tbp.2_Missense_Mutation_p.D406G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	379	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31014631	31014631	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31014631A>G	uc003tbx.2	+	9	906	c.858A>G	c.(856-858)AAA>AAG	p.K286K	GHRHR_uc003tbw.1_Silent_p.K286K|GHRHR_uc003tby.2_Silent_p.K222K|GHRHR_uc003tbz.2_Missense_Mutation_p.R53G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	286	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31102904	31102904	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31102904C>T	uc003tca.1	+	2	247	c.24C>T	c.(22-24)TCC>TCT	p.S8S	ADCYAP1R1_uc003tcb.1_Silent_p.S8S|ADCYAP1R1_uc003tcc.1_Silent_p.S8S|ADCYAP1R1_uc003tcd.1_Silent_p.S8S|ADCYAP1R1_uc003tce.1_Silent_p.S8S	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	8					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31683452	31683452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31683452G>A	uc003tcj.1	+	11	3461	c.2468G>A	c.(2467-2469)GGC>GAC	p.G823D	CCDC129_uc011kad.1_Missense_Mutation_p.G833D|CCDC129_uc003tci.1_Missense_Mutation_p.G674D|CCDC129_uc011kae.1_Missense_Mutation_p.G849D|CCDC129_uc003tck.1_Missense_Mutation_p.G731D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	823	Cys-rich.										0																		---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909594	32909594	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32909594A>G	uc003tdb.2	-	4	1894	c.1235T>C	c.(1234-1236)GTA>GCA	p.V412A	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	412	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)															---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33042307	33042307	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33042307T>C	uc003tdh.2	+	9	1573	c.1392T>C	c.(1390-1392)AGT>AGC	p.S464S	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.S517S|FKBP9_uc011kam.1_Silent_p.S232S	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	464	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)															---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33303972	33303972	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33303972G>T	uc003tdn.1	+	7	1201	c.688G>T	c.(688-690)GGA>TGA	p.G230*	BBS9_uc003tdo.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdp.1_Nonsense_Mutation_p.G230*|BBS9_uc003tdq.1_Nonsense_Mutation_p.G230*|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Nonsense_Mutation_p.G230*|BBS9_uc011kao.1_Nonsense_Mutation_p.G108*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	230					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33573721	33573721	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33573721A>T	uc003tdn.1	+	21	2967	c.2454A>T	c.(2452-2454)AGA>AGT	p.R818S	BBS9_uc003tdo.1_Missense_Mutation_p.R783S|BBS9_uc003tdp.1_Missense_Mutation_p.R813S|BBS9_uc003tdq.1_Missense_Mutation_p.R778S|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R342S|BBS9_uc003tds.1_Missense_Mutation_p.R241S|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	818					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
EEPD1	80820	broad.mit.edu	37	7	36194118	36194118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36194118G>A	uc003tfa.2	+	2	825	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	62	HhH.				DNA repair		DNA binding				0																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	36934620	36934620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36934620T>C	uc003tfk.1	-	17	1747	c.1440A>G	c.(1438-1440)GTA>GTG	p.V480V	ELMO1_uc003tfi.1_5'UTR|ELMO1_uc003tfj.1_5'UTR|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.V384V|ELMO1_uc010kxg.1_Silent_p.V480V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	480	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37172811G>A	uc003tfk.1	-	14	1422	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	ELMO1_uc011kbc.1_Missense_Mutation_p.T276M|ELMO1_uc010kxg.1_Missense_Mutation_p.T372M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37251126	37251126	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37251126A>T	uc003tfk.1	-						ELMO1_uc011kbc.1_Intron|ELMO1_uc010kxg.1_Intron	NM_014800	NP_055615			engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37311473	37311473	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37311473T>C	uc003tfk.1	-	5	514	c.207A>G	c.(205-207)ATA>ATG	p.I69M	ELMO1_uc011kbc.1_Translation_Start_Site|ELMO1_uc010kxg.1_Missense_Mutation_p.I69M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
TXNDC3	51314	broad.mit.edu	37	7	37907455	37907455	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37907455T>C	uc003tfn.2	+	11	1145	c.773T>C	c.(772-774)GTC>GCC	p.V258A		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3														Kartagener_syndrome				---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37960798	37960798	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37960798T>A	uc003tfp.2	+	1	636	c.617T>A	c.(616-618)ATC>AAC	p.I206N	EPDR1_uc003tfq.2_Missense_Mutation_p.I206N|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	86					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
STARD3NL	83930	broad.mit.edu	37	7	38247245	38247245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38247245G>A	uc003tfr.2	+	2	288	c.140G>A	c.(139-141)GGC>GAC	p.G47D	STARD3NL_uc003tfs.2_Missense_Mutation_p.G47D|STARD3NL_uc003tft.2_Missense_Mutation_p.G47D	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	47	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1																		---	---	---	---
AMPH	273	broad.mit.edu	37	7	38502674	38502674	+	Silent	SNP	C	T	T	rs148695925		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134332	40134332	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134332A>T	uc003thh.3	+	14	4574	c.4292A>T	c.(4291-4293)CAT>CTT	p.H1431L	CDK13_uc003thi.3_Missense_Mutation_p.H1371L|CDK13_uc003thj.2_Missense_Mutation_p.H482L|CDK13_uc003thk.2_Missense_Mutation_p.H364L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1431					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134336	40134336	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134336T>C	uc003thh.3	+	14	4578	c.4296T>C	c.(4294-4296)GGT>GGC	p.G1432G	CDK13_uc003thi.3_Silent_p.G1372G|CDK13_uc003thj.2_Silent_p.G483G|CDK13_uc003thk.2_Silent_p.G365G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1432					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134465	40134465	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134465C>T	uc003thh.3	+	14	4707	c.4425C>T	c.(4423-4425)CTC>CTT	p.L1475L	CDK13_uc003thi.3_Silent_p.L1415L|CDK13_uc003thj.2_Silent_p.L526L|CDK13_uc003thk.2_Silent_p.L408L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1475					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---
C7orf10	79783	broad.mit.edu	37	7	40314127	40314127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40314127C>T	uc003thn.1	+	8	637	c.592C>T	c.(592-594)CGC>TGC	p.R198C	C7orf10_uc003thm.1_Missense_Mutation_p.R168C|C7orf10_uc003tho.1_Intron	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	205							transferase activity			ovary(2)	2																		---	---	---	---
STK17A	9263	broad.mit.edu	37	7	43647896	43647896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43647896G>A	uc003tih.2	+	3	612	c.461G>A	c.(460-462)AGA>AAA	p.R154K		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	154	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2																		---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43830895	43830895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43830895A>G	uc003tir.2	+	4	265	c.182A>G	c.(181-183)GAT>GGT	p.D61G	BLVRA_uc010kxv.2_Missense_Mutation_p.D61G	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	61					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43846580	43846580	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43846580C>T	uc003tir.2	+	8	720	c.637C>T	c.(637-639)CTG>TTG	p.L213L	BLVRA_uc010kxv.2_Silent_p.L213L	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	213					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43916390	43916390	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43916390A>G	uc003tiw.2	-	6	2729	c.2672T>C	c.(2671-2673)GTG>GCG	p.V891A	URGCP_uc003tiu.2_Missense_Mutation_p.V848A|URGCP_uc003tiv.2_Missense_Mutation_p.V816A|URGCP_uc003tix.2_Missense_Mutation_p.V882A|URGCP_uc003tiy.2_Missense_Mutation_p.V848A|URGCP_uc003tiz.2_Missense_Mutation_p.V848A|URGCP_uc011kbj.1_Missense_Mutation_p.V848A	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	891					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917311	43917311	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43917311T>C	uc003tiw.2	-	6	1808	c.1751A>G	c.(1750-1752)CAG>CGG	p.Q584R	URGCP_uc003tiu.2_Missense_Mutation_p.Q541R|URGCP_uc003tiv.2_Missense_Mutation_p.Q509R|URGCP_uc003tix.2_Missense_Mutation_p.Q575R|URGCP_uc003tiy.2_Missense_Mutation_p.Q541R|URGCP_uc003tiz.2_Missense_Mutation_p.Q541R|URGCP_uc011kbj.1_Missense_Mutation_p.Q541R	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	584					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
POLM	27434	broad.mit.edu	37	7	44116212	44116212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44116212A>G	uc003tjt.2	-	6	823	c.731T>C	c.(730-732)TTC>TCC	p.F244S	POLM_uc003tjw.1_5'UTR|POLM_uc003tju.2_Missense_Mutation_p.F244S|POLM_uc003tjx.2_Intron|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_RNA|POLM_uc003tjz.3_Missense_Mutation_p.S239P	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	244					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3													DNA_polymerases_(catalytic_subunits)					---	---	---	---
MYL7	58498	broad.mit.edu	37	7	44178596	44178596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44178596G>A	uc003tkg.2	-	7	464	c.452C>T	c.(451-453)CCC>CTC	p.P151L		NM_021223	NP_067046	Q01449	MLRA_HUMAN	myosin light chain 2a	151	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity				0																		---	---	---	---
YKT6	10652	broad.mit.edu	37	7	44246004	44246004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44246004G>A	uc003tkm.2	+	3	365	c.208G>A	c.(208-210)GTC>ATC	p.V70I	YKT6_uc011kbv.1_Missense_Mutation_p.V70I	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	70	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0																		---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44882918	44882918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44882918G>A	uc003tma.2	-	2	194	c.39C>T	c.(37-39)GCC>GCT	p.A13A	H2AFV_uc003tlz.2_Silent_p.A13A|H2AFV_uc003tmb.2_Silent_p.A13A|H2AFV_uc003tmc.2_Silent_p.A13A|H2AFV_uc003tmd.2_Intron	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	13					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
TBRG4	9238	broad.mit.edu	37	7	45142067	45142067	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45142067C>A	uc003tmv.2	-	7	1326	c.1200G>T	c.(1198-1200)GAG>GAT	p.E400D	TBRG4_uc003tmu.2_Missense_Mutation_p.E225D|TBRG4_uc003tmw.2_Missense_Mutation_p.E290D|TBRG4_uc003tmx.2_Missense_Mutation_p.E290D|TBRG4_uc011kcd.1_Missense_Mutation_p.E411D	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	400					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0																		---	---	---	---
RAMP3	10268	broad.mit.edu	37	7	45216982	45216982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45216982G>A	uc003tnb.2	+	2	194	c.133G>A	c.(133-135)GCA>ACA	p.A45T	RAMP3_uc003tnc.2_Missense_Mutation_p.A13T	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	45	Extracellular (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717627	45717627	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717627A>G	uc003tne.3	+	9	1783	c.1765A>G	c.(1765-1767)ACC>GCC	p.T589A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	589	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45717666	45717666	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45717666A>G	uc003tne.3	+							NM_021116	NP_066939			adenylate cyclase 1						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45743052	45743052	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45743052C>T	uc003tne.3	+	15	2550	c.2532C>T	c.(2530-2532)CAC>CAT	p.H844H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	844	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750165	45750165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750165G>A	uc003tne.3	+	19	2989	c.2971G>A	c.(2971-2973)GCT>ACT	p.A991T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	991	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45750202	45750202	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45750202T>C	uc003tne.3	+	19	3026	c.3008T>C	c.(3007-3009)GTC>GCC	p.V1003A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1003	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
IGFBP3	3486	broad.mit.edu	37	7	45957003	45957003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45957003C>T	uc003tns.2	-	2	571	c.439G>A	c.(439-441)GGC>AGC	p.G147S	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.G153S|IGFBP3_uc003tnt.2_Missense_Mutation_p.G50S	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408173	47408173	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408173C>T	uc003tnv.2	-	17	2437	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S	TNS3_uc003tnw.2_Silent_p.S690S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	690						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408194	47408194	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408194G>A	uc003tnv.2	-	17	2416	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	TNS3_uc003tnw.2_Silent_p.S683S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	683						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47453571	47453571	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47453571T>C	uc003tnv.2	-	12	978	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TNS3_uc003tnw.2_Missense_Mutation_p.Y204C|TNS3_uc010kyo.1_Missense_Mutation_p.Y204C	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	204	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47869198	47869198	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47869198A>G	uc003tny.1	-	44	6560	c.6560T>C	c.(6559-6561)GTA>GCA	p.V2187A	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2187	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47894797	47894797	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47894797G>A	uc003tny.1	-	29	4657	c.4657C>T	c.(4657-4659)CTA>TTA	p.L1553L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1553	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47897384	47897384	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47897384C>T	uc003tny.1	-	28	4409	c.4409G>A	c.(4408-4410)CGG>CAG	p.R1470Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1470	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47906161	47906161	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47906161G>A	uc003tny.1	-	25	3948	c.3948C>T	c.(3946-3948)TAC>TAT	p.Y1316Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1316	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48026922	48026922	+	3'UTR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48026922C>A	uc003tof.2	-	11					SUN3_uc010kyq.2_3'UTR|SUN3_uc003tog.2_3'UTR|SUN3_uc011kcf.1_3'UTR	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48269449	48269449	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48269449T>C	uc003toq.2	+	7	685	c.660T>C	c.(658-660)GAT>GAC	p.D220D	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	220					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315257	48315257	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315257T>C	uc003toq.2	+	17	6019	c.5994T>C	c.(5992-5994)ATT>ATC	p.I1998I	ABCA13_uc010kyr.2_Silent_p.I1501I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1998					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315591	48315591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315591T>C	uc003toq.2	+	17	6353	c.6328T>C	c.(6328-6330)TCA>CCA	p.S2110P	ABCA13_uc010kyr.2_Missense_Mutation_p.S1613P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2110					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318231	48318231	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318231T>C	uc003toq.2	+	18	7465	c.7440T>C	c.(7438-7440)GGT>GGC	p.G2480G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2480					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318639	48318639	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318639T>C	uc003toq.2	+	18	7873	c.7848T>C	c.(7846-7848)AGT>AGC	p.S2616S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2616					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48337993	48337993	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48337993T>C	uc003toq.2	+	23	9255	c.9230T>C	c.(9229-9231)ATC>ACC	p.I3077T	ABCA13_uc010kys.1_Missense_Mutation_p.I151T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3077					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
VWC2	375567	broad.mit.edu	37	7	49951753	49951753	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:49951753G>A	uc003tot.1	+	4	1506	c.950G>A	c.(949-951)TGC>TAC	p.C317Y		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	317					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0																		---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513108	50513108	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513108A>G	uc003tpc.2	-	4	2255	c.1878T>C	c.(1876-1878)GCT>GCC	p.A626A	FIGNL1_uc003tpb.2_Silent_p.A515A|FIGNL1_uc003tpd.2_Silent_p.A626A|FIGNL1_uc003tpe.2_Silent_p.A626A|FIGNL1_uc010kyy.2_Silent_p.A626A	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	626					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50513894	50513894	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513894T>A	uc003tpc.2	-	4	1469	c.1092A>T	c.(1090-1092)GGA>GGT	p.G364G	FIGNL1_uc003tpb.2_Silent_p.G253G|FIGNL1_uc003tpd.2_Silent_p.G364G|FIGNL1_uc003tpe.2_Silent_p.G364G|FIGNL1_uc010kyy.2_Silent_p.G364G	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	364					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---
DDC	1644	broad.mit.edu	37	7	50535009	50535009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50535009A>G	uc003tpf.3	-	13	1231	c.1145T>C	c.(1144-1146)GTC>GCC	p.V382A	DDC_uc010kza.2_Missense_Mutation_p.V297A|DDC_uc003tpg.3_Missense_Mutation_p.V382A	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	382					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)													---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096557	51096557	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096557C>A	uc003tpr.3	-	10	2421	c.2236G>T	c.(2236-2238)GGC>TGC	p.G746C	COBL_uc003tps.2_Missense_Mutation_p.G803C|COBL_uc011kcl.1_Missense_Mutation_p.G746C|COBL_uc003tpp.3_Missense_Mutation_p.G532C|COBL_uc003tpq.3_Missense_Mutation_p.G687C|COBL_uc003tpo.3_Missense_Mutation_p.G288C	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	746										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096763	51096763	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096763T>A	uc003tpr.3	-	10	2215	c.2030A>T	c.(2029-2031)AAC>ATC	p.N677I	COBL_uc003tps.2_Missense_Mutation_p.N734I|COBL_uc011kcl.1_Missense_Mutation_p.N677I|COBL_uc003tpp.3_Missense_Mutation_p.N463I|COBL_uc003tpq.3_Missense_Mutation_p.N618I|COBL_uc003tpo.3_Missense_Mutation_p.N219I	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	677										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55229200	55229200	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55229200G>T	uc003tqk.2	+	13	1753	c.1507G>T	c.(1507-1509)GGC>TGC	p.G503C	EGFR_uc003tqi.2_Missense_Mutation_p.G503C|EGFR_uc003tqj.2_Missense_Mutation_p.G503C|EGFR_uc010kzg.1_Missense_Mutation_p.G458C|EGFR_uc011kco.1_Missense_Mutation_p.G450C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	503	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55496101	55496101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55496101G>A	uc003tqp.2	+	8	1797	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	407					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)															---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56129476	56129476	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56129476A>T	uc003trl.1	+	12	1548	c.1384A>T	c.(1384-1386)ACA>TCA	p.T462S	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.T417S|CCT6A_uc011kcu.1_Missense_Mutation_p.T431S|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	462					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56132072	56132072	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56132072G>A	uc003trv.2	+	1	155	c.124_splice	c.e1+1	p.G42_splice	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Splice_Site_p.G42_splice|SUMF2_uc011kcv.1_Splice_Site|SUMF2_uc011kcw.1_Splice_Site_p.G42_splice|SUMF2_uc011kcx.1_Splice_Site_p.G42_splice|SUMF2_uc003trt.2_Splice_Site|SUMF2_uc011kcy.1_Splice_Site_p.G42_splice|SUMF2_uc011kcz.1_Splice_Site_p.G42_splice|SUMF2_uc003tru.2_Splice_Site|SUMF2_uc011kda.1_Splice_Site|SUMF2_uc003trx.2_Splice_Site	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56146161	56146161	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56146161G>A	uc003trv.2	+						PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.A280T|SUMF2_uc011kcx.1_Missense_Mutation_p.A211T|SUMF2_uc003trt.2_Missense_Mutation_p.A173T|SUMF2_uc011kcy.1_Missense_Mutation_p.A265T|SUMF2_uc011kcz.1_Missense_Mutation_p.A196T|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Silent_p.Q44Q|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541			sulfatase modifying factor 2 isoform e							endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
ZNF680	340252	broad.mit.edu	37	7	63982663	63982663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63982663C>T	uc003tta.2	-	4	642	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ZNF680_uc010kzr.2_Missense_Mutation_p.D84N	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)																---	---	---	---
ZNF138	7697	broad.mit.edu	37	7	64291846	64291846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64291846G>A	uc011kdp.1	+	5	539	c.363G>A	c.(361-363)TTG>TTA	p.L121L	ZNF138_uc003ttg.2_Missense_Mutation_p.A19T|ZNF138_uc011kdq.1_Missense_Mutation_p.A50T|ZNF138_uc003tth.2_RNA|ZNF138_uc010kzs.2_Missense_Mutation_p.A44T	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	121					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)																---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64377979	64377979	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64377979T>C	uc003tto.2	+	2	199	c.123T>C	c.(121-123)GAT>GAC	p.D41D	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64438701	64438701	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64438701G>A	uc003ttr.2	-	4	2533	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65440067	65440067	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65440067G>A	uc003tun.2	-						GUSB_uc011kdt.1_Intron	NM_000181	NP_000172			glucuronidase, beta precursor						glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65599349	65599349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65599349A>G	uc003tus.2	+	4	372	c.227A>G	c.(226-228)CAC>CGC	p.H76R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.H69R|CRCP_uc003tut.2_Missense_Mutation_p.H43R|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	76					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0																		---	---	---	---
TPST1	8460	broad.mit.edu	37	7	65705699	65705699	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65705699G>A	uc003tuw.2	+	2	639	c.287G>A	c.(286-288)CGC>CAC	p.R96H	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.R96H|TPST1_uc010laa.2_Missense_Mutation_p.R96H	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	96	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0																		---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66236966	66236966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66236966G>T	uc011kee.1	+	2	286	c.122G>T	c.(121-123)GGC>GTC	p.G41V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvh.2_Missense_Mutation_p.G27V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	165	Interaction with ubiquitinated proteins.|A20-type.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70246639	70246639	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70246639A>G	uc003tvw.3	+	15	2786	c.2043A>G	c.(2041-2043)GGA>GGG	p.G681G	AUTS2_uc003tvx.3_Silent_p.G657G|AUTS2_uc011keg.1_Silent_p.G133G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	681										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255176	70255176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70255176C>T	uc003tvw.3	+	19	3717	c.2974C>T	c.(2974-2976)CTG>TTG	p.L992L	AUTS2_uc003tvx.3_Silent_p.L968L|AUTS2_uc011keg.1_Silent_p.L444L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	992										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70880917	70880917	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70880917A>G	uc003tvy.2	+	4	632	c.632A>G	c.(631-633)TAC>TGC	p.Y211C	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	211	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71135084	71135084	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:71135084C>T	uc003tvy.2	+	8	1394	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A164V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	465	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
STAG3L3	442578	broad.mit.edu	37	7	72470007	72470007	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72470007T>A	uc003txd.3	-	6	850	c.334A>T	c.(334-336)ATA>TTA	p.I112L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	112						nucleus	binding				0		Lung NSC(55;0.197)																---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72880734	72880734	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72880734A>G	uc003tyc.2	-							NM_032408	NP_115784			bromodomain adjacent to zinc finger domain, 1B						ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73010717	73010717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73010717G>A	uc003tyn.1	-	12	1963	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	MLXIPL_uc003tyj.1_Missense_Mutation_p.R20W|MLXIPL_uc003tyk.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R639W|MLXIPL_uc003tym.1_Missense_Mutation_p.R639W|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R545W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	639					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
ABHD11	83451	broad.mit.edu	37	7	73153044	73153044	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73153044G>A	uc003tzb.2	-	1	141	c.84C>T	c.(82-84)GGC>GGT	p.G28G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G28G|ABHD11_uc003tzc.2_Silent_p.G28G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G28G|ABHD11_uc011kfc.1_Silent_p.G28G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	28							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73245601	73245601	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73245601T>C	uc003tzi.3	+	1	409	c.70T>C	c.(70-72)TGC>CGC	p.C24R	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	24	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73246012	73246012	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73246012G>T	uc003tzi.3	+	1	820	c.481G>T	c.(481-483)GGT>TGT	p.G161C	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	161	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)																---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462858	73462858	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462858A>G	uc003tzw.2	+	15	862	c.771A>G	c.(769-771)GCA>GCG	p.A257A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Splice_Site|ELN_uc011kfe.1_Silent_p.A226A|ELN_uc003tzn.2_Silent_p.A257A|ELN_uc003tzz.2_Silent_p.A221A|ELN_uc003tzo.2_Silent_p.A243A|ELN_uc003tzp.2_Silent_p.A213A|ELN_uc003tzq.2_Silent_p.A140A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A257A|ELN_uc003tzt.2_Silent_p.A262A|ELN_uc003tzu.2_Silent_p.A262A|ELN_uc003tzv.2_Silent_p.A247A|ELN_uc003tzx.2_Silent_p.A247A|ELN_uc011kff.1_Silent_p.A257A|ELN_uc003tzy.2_Silent_p.A252A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462877	73462877	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73462877G>A	uc003tzw.2	+	15	881	c.790G>A	c.(790-792)GCA>ACA	p.A264T	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A233T|ELN_uc003tzn.2_Missense_Mutation_p.A264T|ELN_uc003tzz.2_Missense_Mutation_p.A228T|ELN_uc003tzo.2_Missense_Mutation_p.A250T|ELN_uc003tzp.2_Missense_Mutation_p.A220T|ELN_uc003tzq.2_Missense_Mutation_p.A147T|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A264T|ELN_uc003tzt.2_Missense_Mutation_p.A269T|ELN_uc003tzu.2_Missense_Mutation_p.A269T|ELN_uc003tzv.2_Missense_Mutation_p.A254T|ELN_uc003tzx.2_Missense_Mutation_p.A254T|ELN_uc011kff.1_Missense_Mutation_p.A264T|ELN_uc003tzy.2_Missense_Mutation_p.A259T	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	264	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73510954	73510954	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73510954G>A	uc003uaa.1	+	3	320	c.155G>A	c.(154-156)TGT>TAT	p.C52Y	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.C18Y|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	52	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)																---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73604186	73604186	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73604186C>A	uc003uad.1	+	4	355	c.347C>A	c.(346-348)GCA>GAA	p.A116E	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.A116E|EIF4H_uc010lbm.2_Missense_Mutation_p.A116E|EIF4H_uc003uae.1_Missense_Mutation_p.A116E|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	116	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73664117	73664117	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73664117C>T	uc003uaj.2	-						RFC2_uc011kfa.1_Intron|RFC2_uc003uak.2_Intron|RFC2_uc010lbp.2_Intron|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73666758	73666758	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73666758C>T	uc003uaj.2	-	2	208	c.183_splice	c.e2+1	p.E61_splice	RFC2_uc011kfa.1_Splice_Site|RFC2_uc003uak.2_Splice_Site_p.E61_splice|RFC2_uc010lbp.2_Splice_Site_p.E24_splice|RFC2_uc003ual.2_Intron	NM_181471	NP_852136			replication factor C 2 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2																		---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731916	73731916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73731916G>A	uc003uam.2	+	2	367	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CLIP2_uc003uan.2_Missense_Mutation_p.G14R	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				skin(3)	3																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953006	73953006	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953006G>A	uc003uaq.2	+						GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron	NM_016328	NP_057412			GTF2I repeat domain containing 1 isoform 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73953039	73953039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73953039C>T	uc003uaq.2	+	13	1870	c.1477C>T	c.(1477-1479)CCG>TCG	p.P493S	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P525S|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P493S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P493S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	493						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75068445	75068445	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75068445T>C	uc010lde.1	-	4	1011	c.1011A>G	c.(1009-1011)GGA>GGG	p.G337G	POM121C_uc003udk.3_Silent_p.G95G			A8CG34	P121C_HUMAN	Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds.	337	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0																		---	---	---	---
RHBDD2	57414	broad.mit.edu	37	7	75517387	75517387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75517387C>T	uc003udw.1	+	4	899	c.815C>T	c.(814-816)ACG>ATG	p.T272M	RHBDD2_uc003udv.1_Missense_Mutation_p.T131M	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	272						integral to membrane	serine-type endopeptidase activity				0																		---	---	---	---
POR	5447	broad.mit.edu	37	7	75614176	75614176	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75614176C>T	uc003udy.2	+	11	1230	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	POR_uc011kgc.1_Missense_Mutation_p.P191L|POR_uc011kgd.1_Missense_Mutation_p.P282L|POR_uc011kge.1_Missense_Mutation_p.P121L|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	380	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)													---	---	---	---
YWHAG	7532	broad.mit.edu	37	7	75959437	75959437	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75959437C>T	uc011kgj.1	-	2	418	c.201G>A	c.(199-201)GAG>GAA	p.E67E		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112470	76112470	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76112470G>A	uc003uff.3	+						DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron	NM_020892	NP_065943			deltex 2 isoform a						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76126704	76126704	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76126704C>T	uc003uff.3	+	7	1616	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	DTX2_uc011kgk.1_Missense_Mutation_p.R263C|DTX2_uc003ufg.3_Missense_Mutation_p.R354C|DTX2_uc003ufh.3_Missense_Mutation_p.R354C|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.R17C|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	354					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76825713	76825713	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76825713G>A	uc003ugb.2	-	2	1243	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	401	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76829058	76829058	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76829058C>A	uc003ugb.2	-	1	93	c.53G>T	c.(52-54)GGT>GTT	p.G18V	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	18					signal transduction	fibrinogen complex	receptor binding			skin(2)	2																		---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77708270	77708270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77708270C>A	uc003ugx.2	-	21	3954	c.3700G>T	c.(3700-3702)GAA>TAA	p.E1234*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.E1220*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.E827*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1234				E -> Q (in Ref. 1; AAC05370).		cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77789472	77789472	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77789472G>T	uc003ugx.2	-	16	2969	c.2715C>A	c.(2713-2715)GCC>GCA	p.A905A	MAGI2_uc003ugy.2_Silent_p.A891A|MAGI2_uc010ldx.1_Silent_p.A498A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	905						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	79082520	79082520	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:79082520T>A	uc003ugx.2	-	1	371	c.117A>T	c.(115-117)GGA>GGT	p.G39G	MAGI2_uc003ugy.2_Silent_p.G39G|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	39	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---
HGF	3082	broad.mit.edu	37	7	81374395	81374395	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81374395T>C	uc003uhl.2	-	6	832	c.667A>G	c.(667-669)ATG>GTG	p.M223V	HGF_uc003uhm.2_Missense_Mutation_p.M218V|HGF_uc003uhn.1_Missense_Mutation_p.M223V|HGF_uc003uho.1_Missense_Mutation_p.M218V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	223	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	T	T	rs137853235		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81381566C>T	uc003uhl.2	-	5	660	c.495G>A	c.(493-495)TCG>TCA	p.S165S	HGF_uc003uhm.2_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.2_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579252	82579252	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82579252T>C	uc003uhx.2	-	6	10941	c.10652A>G	c.(10651-10653)AAA>AGA	p.K3551R	PCLO_uc003uhv.2_Missense_Mutation_p.K3551R|PCLO_uc010lec.2_Missense_Mutation_p.K516R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583904	82583904	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82583904C>A	uc003uhx.2	-	5	6654	c.6365G>T	c.(6364-6366)AGT>ATT	p.S2122I	PCLO_uc003uhv.2_Missense_Mutation_p.S2122I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2053					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82763785	82763785	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82763785T>A	uc003uhx.2	-	3	3370	c.3081A>T	c.(3079-3081)CCA>CCT	p.P1027P	PCLO_uc003uhv.2_Silent_p.P1027P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	973	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784146	82784146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82784146T>C	uc003uhx.2	-	2	2100	c.1811A>G	c.(1810-1812)AAG>AGG	p.K604R	PCLO_uc003uhv.2_Missense_Mutation_p.K604R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	550	C4-type (Potential).|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84671486	84671486	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84671486C>T	uc003uic.2	-	8	1016	c.976_splice	c.e8+1	p.Q326_splice	SEMA3D_uc010led.2_Splice_Site_p.Q326_splice|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86541542	86541542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86541542C>T	uc011kha.1	-	15	2200	c.2015G>A	c.(2014-2016)AGT>AAT	p.S672N	KIAA1324L_uc003uif.1_Missense_Mutation_p.S432N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.S558N|KIAA1324L_uc003uie.2_Missense_Mutation_p.S505N	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	672	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86802919	86802919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86802919A>G	uc003uih.2	+	6	722	c.396A>G	c.(394-396)CAA>CAG	p.Q132Q	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.Q44Q|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.Q132Q|DMTF1_uc003uim.1_Silent_p.Q132Q|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	132	Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86824348	86824348	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86824348T>A	uc003uih.2	+	18	2501	c.2175T>A	c.(2173-2175)GAT>GAA	p.D725E	DMTF1_uc003uii.2_Missense_Mutation_p.D459E|DMTF1_uc003uij.2_Missense_Mutation_p.D459E|DMTF1_uc011khb.1_Missense_Mutation_p.D637E|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.D725E|DMTF1_uc003uin.2_Missense_Mutation_p.D459E	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	725	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179871	87179871	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179871C>T	uc003uiz.1	-	12	1555	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	ABCB1_uc011khc.1_Silent_p.S315S	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	379	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87507464	87507464	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87507464G>A	uc003ujf.1	+	2	647	c.143G>A	c.(142-144)GGA>GAA	p.G48E	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	48	BRCT 1.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516180	87516180	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516180T>A	uc003ujf.1	+	4	925	c.421T>A	c.(421-423)TTA>ATA	p.L141I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	141					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87760680	87760680	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87760680A>G	uc003ujn.2	+	11	1001	c.922A>G	c.(922-924)ACC>GCC	p.T308A	ADAM22_uc003ujj.1_Missense_Mutation_p.T308A|ADAM22_uc003ujk.1_Missense_Mutation_p.T308A|ADAM22_uc003ujl.1_Missense_Mutation_p.T308A|ADAM22_uc003ujm.2_Missense_Mutation_p.T308A|ADAM22_uc003ujo.2_Missense_Mutation_p.T308A|ADAM22_uc003ujp.1_Missense_Mutation_p.T360A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	308	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87780325	87780325	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87780325A>T	uc003ujn.2	+	19	1675	c.1596A>T	c.(1594-1596)GGA>GGT	p.G532G	ADAM22_uc003ujk.1_Silent_p.G532G|ADAM22_uc003ujl.1_Silent_p.G532G|ADAM22_uc003ujm.2_Silent_p.G532G|ADAM22_uc003ujo.2_Silent_p.G532G|ADAM22_uc003ujp.1_Silent_p.G584G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	532	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87912203	87912203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87912203A>G	uc003ujs.2	-	3	842	c.737T>C	c.(736-738)ATC>ACC	p.I246T	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I246T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	246	Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)																	---	---	---	---
MGC26647	219557	broad.mit.edu	37	7	88424168	88424168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88424168T>C	uc003ujv.2	-	2	271	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	30											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)															---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847605	88847605	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847605A>C	uc011khi.1	+	2	783	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	82						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89854552	89854552	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89854552C>T	uc003ujz.2	+	2	549	c.156C>T	c.(154-156)TGC>TGT	p.C52C	STEAP2_uc003ujy.2_Silent_p.C94C|STEAP2_uc010len.2_Silent_p.C52C|STEAP2_uc003uka.2_Silent_p.C52C|STEAP2_uc003ukb.2_Silent_p.C52C|STEAP2_uc003ukc.2_Silent_p.C52C|STEAP2_uc003ukd.2_Silent_p.C52C	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	52					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856621	89856621	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89856621G>T	uc003ujz.2	+	3	1222	c.829G>T	c.(829-831)GCA>TCA	p.A277S	STEAP2_uc003ujy.2_Missense_Mutation_p.A319S|STEAP2_uc010len.2_Missense_Mutation_p.A277S|STEAP2_uc003uka.2_Missense_Mutation_p.A277S|STEAP2_uc003ukb.2_Missense_Mutation_p.A277S|STEAP2_uc003ukc.2_Missense_Mutation_p.A277S|STEAP2_uc003ukd.2_Missense_Mutation_p.A277S	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	277	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)																	---	---	---	---
GTPBP10	85865	broad.mit.edu	37	7	90014459	90014459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90014459T>C	uc003ukm.1	+	10	1221	c.1155T>C	c.(1153-1155)GAT>GAC	p.D385D	GTPBP10_uc003ukn.1_Silent_p.D306D|GTPBP10_uc003uko.1_Silent_p.D195D|CLDN12_uc003ukp.2_5'UTR|CLDN12_uc003ukq.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	385					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90356055	90356055	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90356055T>C	uc003uky.2	+	3	520	c.298T>C	c.(298-300)TGC>CGC	p.C100R	CDK14_uc003ukt.1_Missense_Mutation_p.C54R|CDK14_uc003ukv.1_Missense_Mutation_p.C54R|CDK14_uc003uku.1_Missense_Mutation_p.C54R|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.C82R|CDK14_uc010les.1_Missense_Mutation_p.C54R|CDK14_uc011khl.1_Silent_p.L2L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	100					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895161	90895161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895161G>A	uc003ula.2	+	1	1379	c.966G>A	c.(964-966)TGG>TGA	p.W322*		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	322	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895558	90895558	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90895558C>T	uc003ula.2	+	1	1776	c.1363C>T	c.(1363-1365)CCG>TCG	p.P455S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	455	Helical; Name=4; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)															---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91708815	91708815	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91708815T>A	uc003ulg.2	+	31	7593	c.7368T>A	c.(7366-7368)GAT>GAA	p.D2456E	AKAP9_uc003ulf.2_Missense_Mutation_p.D2448E|AKAP9_uc003uli.2_Missense_Mutation_p.D2079E|AKAP9_uc003ulj.2_Missense_Mutation_p.D226E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2468	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92020590	92020590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92020590G>A	uc003ulw.2	+	16	2539	c.2163G>A	c.(2161-2163)AGG>AGA	p.R721R	ANKIB1_uc010lew.1_Missense_Mutation_p.A8T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	721							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027890	92027890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92027890A>G	uc003ulw.2	+	20	3273	c.2897A>G	c.(2896-2898)AAT>AGT	p.N966S	ANKIB1_uc010lew.1_Missense_Mutation_p.N235S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	966							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92129140	92129140	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92129140A>C	uc003uly.2	-	16	2692	c.2596T>G	c.(2596-2598)TTT>GTT	p.F866V	PEX1_uc011khr.1_Missense_Mutation_p.F658V|PEX1_uc010ley.2_Missense_Mutation_p.F809V|PEX1_uc011khs.1_Missense_Mutation_p.F544V|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	866					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92247520	92247520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92247520C>T	uc011khw.1	-	7	1112	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CDK6_uc010lez.2_Missense_Mutation_p.V234M	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
CDK6	1021	broad.mit.edu	37	7	92404119	92404119	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92404119C>T	uc011khw.1	-	3	672	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	CDK6_uc010lez.2_Missense_Mutation_p.R87Q	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	87	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)					T	MLLT10	ALL								---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92734465	92734465	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92734465A>T	uc003umf.2	-	3	1202	c.946T>A	c.(946-948)TGC>AGC	p.C316S	SAMD9_uc003umg.2_Missense_Mutation_p.C316S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	316						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92735292	92735292	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92735292T>C	uc003umf.2	-	3	375	c.119A>G	c.(118-120)GAC>GGC	p.D40G	SAMD9_uc003umg.2_Missense_Mutation_p.D40G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	40	SAM.					cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760589	92760589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92760589A>G	uc003umh.1	-	5	5912	c.4696T>C	c.(4696-4698)TCT>CCT	p.S1566P	SAMD9L_uc003umj.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umi.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1566P|SAMD9L_uc003umk.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1566P|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1566P|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1566										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92982940	92982940	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92982940T>C	uc003umo.2	+						CCDC132_uc003umq.2_Intron|CCDC132_uc003ump.2_Intron|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron	NM_017667	NP_060137			coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
GNGT1	2792	broad.mit.edu	37	7	93540172	93540172	+	Missense_Mutation	SNP	G	A	A	rs138254553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:93540172G>A	uc003unc.1	+	3	315	c.167G>A	c.(166-168)GGC>GAC	p.G56D	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	56					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)															---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94146970	94146970	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94146970T>C	uc003uni.3	+	2	457	c.230_splice	c.e2+2	p.S77_splice	CASD1_uc003unh.2_Splice_Site_p.S77_splice|CASD1_uc003unj.3_Splice_Site_p.S77_splice	NM_022900	NP_075051			CAS1 domain containing 1 precursor							integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)															---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94827660	94827660	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94827660G>T	uc003unp.2	+	6	2037	c.1755_splice	c.e6-1	p.R585_splice	PPP1R9A_uc010lfj.2_Splice_Site_p.R585_splice|PPP1R9A_uc011kif.1_Splice_Site_p.R585_splice|PPP1R9A_uc003unq.2_Splice_Site_p.R585_splice|PPP1R9A_uc011kig.1_Splice_Site_p.R585_splice	NM_017650	NP_060120			protein phosphatase 1, regulatory (inhibitor)							cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)												HNSCC(28;0.073)			---	---	---	---
PON1	5444	broad.mit.edu	37	7	94944662	94944662	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94944662A>C	uc003uns.2	-	4	439	c.342T>G	c.(340-342)CCT>CCG	p.P114P	PON1_uc011kih.1_Silent_p.P114P	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
PON1	5444	broad.mit.edu	37	7	95025597	95025597	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95025597C>G	uc011kih.1	-	1	91	c.66G>C	c.(64-66)CTG>CTC	p.L22L	PON3_uc003unt.2_Silent_p.L22L|PON3_uc011kii.1_Silent_p.L22L			P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	22					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95813609	95813609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95813609C>T	uc003uof.3	-	11	1348	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	SLC25A13_uc003uog.3_Missense_Mutation_p.G387D|SLC25A13_uc011kik.1_Missense_Mutation_p.G278D	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	386	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95814285	95814285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95814285T>C	uc003uof.3	-	10	1163	c.972A>G	c.(970-972)CAA>CAG	p.Q324Q	SLC25A13_uc003uog.3_Silent_p.Q325Q|SLC25A13_uc011kik.1_Silent_p.Q216Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	324					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639170	96639170	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96639170T>A	uc003uom.2	+	4	609	c.609T>A	c.(607-609)AAT>AAA	p.N203K	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	113					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650040	96650040	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96650040C>T	uc003uon.2	-	3						NM_005221	NP_005212			distal-less homeobox 5						cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97498452	97498452	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97498452G>A	uc003uot.3	-	3	523	c.17C>T	c.(16-18)GCG>GTG	p.A6V	ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.A6V|ASNS_uc003uov.3_Missense_Mutation_p.A6V|ASNS_uc011kio.1_Intron|ASNS_uc003uow.3_Intron|ASNS_uc003uox.3_Intron	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	6	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823866	97823866	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97823866A>G	uc003upd.1	+	11	4382	c.4089A>G	c.(4087-4089)ACA>ACG	p.T1363T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1363					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860361	97860361	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97860361A>G	uc003upg.2	-	15	2399	c.2194T>C	c.(2194-2196)TGG>CGG	p.W732R	TECPR1_uc003uph.1_Missense_Mutation_p.W662R	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	732	TECPR 5.					integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98513399	98513399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98513399G>T	uc003upp.2	+	19	2462	c.2253G>T	c.(2251-2253)AAG>AAT	p.K751N	TRRAP_uc011kis.1_Missense_Mutation_p.K751N|TRRAP_uc003upr.2_Missense_Mutation_p.K443N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	751					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98530903	98530903	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98530903C>A	uc003upp.2	+	27	4101	c.3892C>A	c.(3892-3894)CGA>AGA	p.R1298R	TRRAP_uc011kis.1_Silent_p.R1298R|TRRAP_uc003upr.2_Silent_p.R990R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1298					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98533266	98533266	+	Missense_Mutation	SNP	C	T	T	rs139426093		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98533266C>T	uc003upp.2	+	28	4288	c.4079C>T	c.(4078-4080)CCG>CTG	p.P1360L	TRRAP_uc011kis.1_Missense_Mutation_p.P1360L|TRRAP_uc003upr.2_Missense_Mutation_p.P1052L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1360					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98535356	98535356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98535356C>T	uc003upp.2	+	30	4526	c.4317C>T	c.(4315-4317)AGC>AGT	p.S1439S	TRRAP_uc011kis.1_Silent_p.S1439S|TRRAP_uc003upr.2_Silent_p.S1131S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1439					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
SMURF1	57154	broad.mit.edu	37	7	98655120	98655120	+	Silent	SNP	A	T	T	rs150079661		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98655120A>T	uc003upu.1	-	4	578	c.258T>A	c.(256-258)ATT>ATA	p.I86I	SMURF1_uc003upv.1_Silent_p.I86I|SMURF1_uc003upt.2_Silent_p.I86I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	86	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	99002518	99002518	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99002518G>A	uc003uqe.2	-	2	193	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	24					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99021445	99021445	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99021445T>C	uc003uqh.2	-	7	2004	c.1873A>G	c.(1873-1875)ATC>GTC	p.I625V	PTCD1_uc011kiw.1_Missense_Mutation_p.I674V	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	625										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022974	99022974	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99022974T>C	uc003uqh.2	-	6	1312	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	PTCD1_uc011kiw.1_Missense_Mutation_p.Q443R	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	394										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084466	99084466	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99084466G>A	uc003uqq.1	+	5	852	c.633G>A	c.(631-633)AGG>AGA	p.R211R	ZNF789_uc010lfw.1_Silent_p.R116R|ZNF789_uc003uqr.1_Silent_p.R153R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	211	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99092051	99092051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99092051C>A	uc003uqs.2	-	3	948	c.787G>T	c.(787-789)GGA>TGA	p.G263*	ZNF394_uc003uqt.2_Nonsense_Mutation_p.G56*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	263					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99129621	99129621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99129621T>C	uc003uqv.2	+	7	2393	c.2269T>C	c.(2269-2271)TGT>CGT	p.C757R	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.C757R|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.C684R|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.C493R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	757	C2H2-type 11; atypical.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
ZNF498	221785	broad.mit.edu	37	7	99227533	99227533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99227533A>G	uc003url.1	+	8	1852	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	ZNF498_uc003urm.1_Missense_Mutation_p.T345A|ZNF498_uc010lge.1_Missense_Mutation_p.T345A|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.T437A|ZNF498_uc003uro.1_Missense_Mutation_p.T293A	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	509					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)																	---	---	---	---
CYP3A4	1576	broad.mit.edu	37	7	99366086	99366086	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99366086T>C	uc003urv.1	-	7	665	c.561A>G	c.(559-561)ACA>ACG	p.T187T	CYP3A4_uc003urw.1_Silent_p.T187T|CYP3A4_uc011kiz.1_Silent_p.T146T|CYP3A4_uc011kja.1_Silent_p.T138T|CYP3A4_uc011kjb.1_Silent_p.T37T	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	187				T -> S (in Ref. 1; BAA00001/AAA35742).	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)													---	---	---	---
GJC3	349149	broad.mit.edu	37	7	99526644	99526644	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99526644A>C	uc011kjd.1	-	1	600	c.600T>G	c.(598-600)GGT>GGG	p.G200G		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	200	Helical; (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)																	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99631365	99631365	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99631365G>A	uc003usk.1	+	6	1456	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.A377T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.A200T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	413	C2H2-type 2.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99703151	99703151	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99703151A>G	uc003utb.3	+	11	1126	c.918A>G	c.(916-918)CGA>CGG	p.R306R	AP4M1_uc011kjg.1_Silent_p.R260R|AP4M1_uc010lgl.1_Silent_p.R281R|AP4M1_uc003utc.3_Silent_p.R313R|AP4M1_uc010lgm.2_Silent_p.R178R|AP4M1_uc003utd.2_Silent_p.R306R|AP4M1_uc011kjh.1_Silent_p.R258R|AP4M1_uc003ute.3_Silent_p.R81R|AP4M1_uc003utf.3_Silent_p.R178R	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	306	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99711671	99711671	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99711671G>A	uc003uti.2	-						TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Intron|TAF6_uc003utk.2_Intron|TAF6_uc011kji.1_Intron|TAF6_uc003utj.2_Intron|TAF6_uc003utl.2_Intron|TAF6_uc003utm.2_Intron|TAF6_uc003utn.1_Intron	NM_139315	NP_647476			TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf43	55262	broad.mit.edu	37	7	99754477	99754477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99754477C>T	uc003utr.2	-	6	1164	c.984G>A	c.(982-984)GGG>GGA	p.G328G	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.G96G|C7orf43_uc003uts.2_Silent_p.G59G	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	328											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	A	A	rs150667953	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99757655G>A	uc003utt.2	-	3	2374	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99811392	99811392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99811392G>A	uc003utx.1	+	33	3787	c.3632G>A	c.(3631-3633)GGG>GAG	p.G1211E	STAG3_uc011kjk.1_Missense_Mutation_p.G1153E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G436E|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1211					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028639	100028639	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100028639C>A	uc003uuw.2	+	1	1111	c.998C>A	c.(997-999)CCA>CAA	p.P333Q	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	333							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
C7orf51	222950	broad.mit.edu	37	7	100086267	100086267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100086267C>T	uc003uvd.1	+	4	1082	c.923C>T	c.(922-924)CCG>CTG	p.P308L	C7orf51_uc003uve.1_Missense_Mutation_p.P90L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	308	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100243920	100243920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100243920C>A	uc003uvy.2	-	13	1259	c.1152G>T	c.(1150-1152)ATG>ATT	p.M384I	ACTL6B_uc003uvx.1_Missense_Mutation_p.M175I|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	384					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350794	100350794	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100350794A>G	uc003uwj.2	+	14	3231	c.3066A>G	c.(3064-3066)CCA>CCG	p.P1022P	ZAN_uc003uwk.2_Silent_p.P1022P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1022	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100469238	100469238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100469238A>G	uc003uww.2	+	7	1243	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	358	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490064	100490064	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100490064T>C	uc003uxd.2	-	2	1600	c.1444A>G	c.(1444-1446)ATC>GTC	p.I482V	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.I482V|ACHE_uc003uxf.2_Missense_Mutation_p.I482V|ACHE_uc003uxg.2_Missense_Mutation_p.I482V|ACHE_uc003uxh.2_Missense_Mutation_p.I394V|ACHE_uc003uxi.2_Missense_Mutation_p.I482V	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	482					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
ACHE	43	broad.mit.edu	37	7	100491298	100491298	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100491298C>T	uc003uxd.2	-	1	712	c.556G>A	c.(556-558)GCC>ACC	p.A186T	ACHE_uc003uxe.2_Missense_Mutation_p.A186T|ACHE_uc003uxf.2_Missense_Mutation_p.A186T|ACHE_uc003uxg.2_Missense_Mutation_p.A186T|ACHE_uc003uxh.2_Missense_Mutation_p.A186T|ACHE_uc003uxi.2_Missense_Mutation_p.A186T|ACHE_uc003uxj.1_Missense_Mutation_p.A305T	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	186					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677683	100677683	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677683G>A	uc003uxp.1	+	3	3039	c.2986G>A	c.(2986-2988)GCC>ACC	p.A996T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	996	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679615	100679615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100679615A>G	uc003uxp.1	+	3	4971	c.4918A>G	c.(4918-4920)ACC>GCC	p.T1640A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1640	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683690	100683690	+	Missense_Mutation	SNP	C	T	T	rs142796970		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683690C>T	uc003uxp.1	+	3	9046	c.8993C>T	c.(8992-8994)CCG>CTG	p.P2998L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2998	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686475	100686475	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100686475A>G	uc003uxp.1	+	3	11831	c.11778A>G	c.(11776-11778)GTA>GTG	p.V3926V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3926	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100732344	100732344	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100732344C>T	uc003uxq.2	+	3	1982	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	584					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856390	100856390	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100856390T>C	uc003uyd.2	-	7	1231	c.775A>G	c.(775-777)AAG>GAG	p.K259E	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	259					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
EMID2	136227	broad.mit.edu	37	7	101188738	101188738	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101188738C>T	uc010lhy.1	+	7	1009	c.817C>T	c.(817-819)CTC>TTC	p.L273F	EMID2_uc003uyo.1_Missense_Mutation_p.L275F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	275						collagen				ovary(1)	1	Lung NSC(181;0.215)																	---	---	---	---
SH2B2	10603	broad.mit.edu	37	7	101960844	101960844	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101960844A>G	uc011kko.1	+	6	1616	c.1571A>G	c.(1570-1572)CAT>CGT	p.H524R		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	481	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102106487	102106487	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102106487C>T	uc003uzn.2	+	2	442	c.304C>T	c.(304-306)CCC>TCC	p.P102S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	102	LRR 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102108751	102108751	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102108751C>T	uc003uzn.2	+	7	984	c.846C>T	c.(844-846)CAC>CAT	p.H282H	LRWD1_uc003uzo.2_Silent_p.H130H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	282					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1																		---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760524	102760524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102760524A>T	uc003vbc.2	-	3	769	c.441T>A	c.(439-441)GAT>GAA	p.D147E	NAPEPLD_uc003vbd.2_Missense_Mutation_p.D147E|NAPEPLD_uc011klj.1_Missense_Mutation_p.D220E|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	147					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1																		---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102948078	102948078	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102948078T>C	uc003vbl.2	+	7	806	c.772T>C	c.(772-774)TTT>CTT	p.F258L	PMPCB_uc010liu.1_Missense_Mutation_p.F258L|PMPCB_uc003vbk.1_Missense_Mutation_p.F258L|PMPCB_uc003vbm.2_Missense_Mutation_p.F167L|PMPCB_uc010liv.2_Missense_Mutation_p.F164L|PMPCB_uc010liw.2_Missense_Mutation_p.F167L|PMPCB_uc011kll.1_Missense_Mutation_p.F153L|PMPCB_uc011klm.1_Missense_Mutation_p.F133L	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	258					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	T	T	rs115035120	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103124188C>T	uc003vca.2	-	62	10253	c.10093G>A	c.(10093-10095)GTC>ATC	p.V3365I	RELN_uc010liz.2_Missense_Mutation_p.V3365I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3365	BNR 16.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103130326	103130326	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103130326A>T	uc003vca.2	-	60	9786	c.9626T>A	c.(9625-9627)ATC>AAC	p.I3209N	RELN_uc010liz.2_Missense_Mutation_p.I3209N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103191549	103191549	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103191549C>A	uc003vca.2	-	41	6427	c.6267G>T	c.(6265-6267)AGG>AGT	p.R2089S	RELN_uc010liz.2_Missense_Mutation_p.R2089S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2089					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230160	103230160	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103230160G>T	uc003vca.2	-	28	4188	c.4028C>A	c.(4027-4029)GCA>GAA	p.A1343E	RELN_uc010liz.2_Missense_Mutation_p.A1343E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1343					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
MLL5	55904	broad.mit.edu	37	7	104742044	104742044	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:104742044T>C	uc003vcm.2	+						MLL5_uc010ljc.2_Intron|MLL5_uc010lje.1_Intron	NM_182931	NP_891847			myeloid/lymphoid or mixed-lineage leukemia 5						cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148964	105148964	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105148964A>G	uc003vcx.2	-	2					PUS7_uc010lji.2_5'UTR|PUS7_uc003vcy.2_5'UTR|PUS7_uc003vcz.1_5'UTR	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105641973	105641973	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105641973C>T	uc003vdl.3	+	7	887	c.779C>T	c.(778-780)GCG>GTG	p.A260V	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.A247V|CDHR3_uc011klt.1_Missense_Mutation_p.A172V|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508059	106508059	+	Missense_Mutation	SNP	G	A	A	rs142380460	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508059G>A	uc003vdv.3	+	2	138	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R18Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R18Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	18					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R18Q(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508394C>T	uc003vdv.3	+	2	473	c.388C>T	c.(388-390)CGG>TGG	p.R130W	PIK3CG_uc003vdu.2_Missense_Mutation_p.R130W|PIK3CG_uc003vdw.2_Missense_Mutation_p.R130W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106781302	106781302	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106781302C>T	uc003vdx.2	+	5	666	c.491C>T	c.(490-492)TCT>TTT	p.S164F		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	164	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106799932	106799932	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106799932T>A	uc003vdx.2	+	11	1337	c.1162T>A	c.(1162-1164)TGC>AGC	p.C388S		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	388	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1																		---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106830637	106830637	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106830637A>G	uc003vdy.2	+	8	1128	c.942A>G	c.(940-942)CCA>CCG	p.P314P	HBP1_uc011klv.1_Silent_p.P324P|HBP1_uc003vdz.2_Silent_p.P314P|HBP1_uc003vea.2_Silent_p.P314P|HBP1_uc003veb.1_Silent_p.P314P	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	314	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1																		---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107258781	107258781	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107258781A>G	uc003vej.2	+	8	1038	c.699A>G	c.(697-699)TTA>TTG	p.L233L	BCAP29_uc011kly.1_Silent_p.L139L|BCAP29_uc011klz.1_Intron|BCAP29_uc011kma.1_Missense_Mutation_p.R260G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	233	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2																		---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107330694	107330694	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107330694A>C	uc003vep.2	+						SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	NM_000441	NP_000432			pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7														Pendred_syndrome				---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107394336	107394336	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107394336A>G	uc003veq.2	+						CBLL1_uc011kme.1_Intron|CBLL1_uc011kmf.1_Intron	NM_024814	NP_079090			Cas-Br-M (murine) ecotropic retroviral						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107575974	107575974	+	Silent	SNP	G	A	A	rs146681738		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107575974G>A	uc003vew.2	-	27	4409	c.4074C>T	c.(4072-4074)GAC>GAT	p.D1358D	LAMB1_uc003vev.2_Silent_p.D1382D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1358	Potential.|Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107677924	107677924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107677924G>A	uc010ljo.1	-	30	4672	c.4588C>T	c.(4588-4590)CAA>TAA	p.Q1530*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1530*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q499*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1530	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107732062	107732062	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107732062A>G	uc010ljo.1	-						LAMB4_uc003vey.2_Intron	NM_007356	NP_031382			laminin, beta 4 precursor						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108213489	108213489	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108213489T>C	uc003vfn.2	+	3	566	c.364T>C	c.(364-366)TTT>CTT	p.F122L		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	122					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0																		---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763174	110763174	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763174C>T	uc003vft.3	+	4	1392	c.346C>T	c.(346-348)CCT>TCT	p.P116S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P116S|LRRN3_uc003vfs.3_Missense_Mutation_p.P116S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	116	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764599	110764599	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764599A>G	uc003vft.3	+	4	2817	c.1771A>G	c.(1771-1773)ATT>GTT	p.I591V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I591V|LRRN3_uc003vfs.3_Missense_Mutation_p.I591V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	591	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764825	110764825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764825T>A	uc003vft.3	+	4	3043	c.1997T>A	c.(1996-1998)TTA>TAA	p.L666*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L666*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L666*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	666	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
GPR85	54329	broad.mit.edu	37	7	112723818	112723818	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112723818A>T	uc010ljv.2	-	2	1476	c.959T>A	c.(958-960)TTT>TAT	p.F320Y	GPR85_uc003vgp.1_Missense_Mutation_p.F320Y|GPR85_uc003vgq.2_Missense_Mutation_p.F320Y|GPR85_uc010ljw.1_Missense_Mutation_p.F320Y	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519801	113519801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113519801C>T	uc010ljy.1	-	4	1377	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	449					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558357	113558357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113558357T>C	uc010ljy.1	-	1	726	c.695A>G	c.(694-696)CAA>CGA	p.Q232R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	232					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114304425	114304425	+	Missense_Mutation	SNP	A	G	G	rs145154396	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:114304425A>G	uc003vhb.2	+	16	2311	c.1937A>G	c.(1936-1938)AAT>AGT	p.N646S	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N671S|FOXP2_uc003vha.2_Missense_Mutation_p.N554S|FOXP2_uc011kmu.1_Missense_Mutation_p.N663S|FOXP2_uc011kmv.1_Missense_Mutation_p.N645S|FOXP2_uc010ljz.1_Missense_Mutation_p.N461S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	646					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8																		---	---	---	---
MET	4233	broad.mit.edu	37	7	116339390	116339390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339390C>T	uc003vij.2	+	2	439	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	MET_uc010lkh.2_Silent_p.Y84Y|MET_uc011knc.1_Silent_p.Y84Y|MET_uc011knd.1_Silent_p.Y84Y|MET_uc011kne.1_Silent_p.Y84Y|MET_uc011knf.1_Silent_p.Y84Y|MET_uc011kng.1_Silent_p.Y84Y|MET_uc011knh.1_Silent_p.Y84Y|MET_uc011kni.1_Silent_p.Y84Y|MET_uc003vii.1_Silent_p.Y103Y|MET_uc010lkg.2_Silent_p.Y84Y|MET_uc011kmz.1_Silent_p.Y84Y|MET_uc011kna.1_Silent_p.Y84Y|MET_uc011knb.1_Silent_p.Y84Y	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	84	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
MET	4233	broad.mit.edu	37	7	116339813	116339813	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116339813T>C	uc003vij.2	+	2	862	c.675T>C	c.(673-675)GGT>GGC	p.G225G	MET_uc010lkh.2_Silent_p.G225G|MET_uc011knc.1_Silent_p.G225G|MET_uc011knd.1_Silent_p.G225G|MET_uc011kne.1_Silent_p.G225G|MET_uc011knf.1_Silent_p.G225G|MET_uc011kng.1_Silent_p.G225G|MET_uc011knh.1_Silent_p.G225G|MET_uc011kni.1_Silent_p.G225G|MET_uc003vii.1_Silent_p.G244G|MET_uc010lkg.2_Silent_p.G225G|MET_uc011kmz.1_Silent_p.G225G|MET_uc011kna.1_Silent_p.G225G|MET_uc011knb.1_Silent_p.G225G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	225	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---
ST7	7982	broad.mit.edu	37	7	116861965	116861965	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116861965T>C	uc003vin.2	+						ST7_uc011knl.1_Intron|ST7_uc003vio.2_Intron|ST7_uc003viq.2_Intron|ST7_uc011knm.1_Intron|ST7_uc003vir.2_Intron|ST7_uc011knn.1_Intron	NM_021908	NP_068708			suppression of tumorigenicity 7 isoform b							integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955236	116955236	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116955236A>T	uc003viz.2	-	3	777	c.477T>A	c.(475-477)GAT>GAA	p.D159E	WNT2_uc003vja.2_Missense_Mutation_p.D63E	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	159					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116960775	116960775	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116960775C>T	uc003viz.2	-	2	456	c.156G>A	c.(154-156)CGG>CGA	p.R52R	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431265	117431265	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117431265A>G	uc003vjf.2	-	4	2077	c.1985T>C	c.(1984-1986)ATT>ACT	p.I662T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	662										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432080	117432080	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117432080T>C	uc003vjf.2	-	4	1262	c.1170A>G	c.(1168-1170)TCA>TCG	p.S390S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	390	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117876922	117876922	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117876922T>C	uc003vji.2	+	5	827	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	218	ANK 5.				male gonad development						0																		---	---	---	---
TSPAN12	23554	broad.mit.edu	37	7	120496772	120496772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120496772C>T	uc003vjk.2	-	2	420	c.46G>A	c.(46-48)GCC>ACC	p.A16T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	16	Helical; (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)																	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121650696	121650696	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121650696A>C	uc003vjy.2	+	12	1991	c.1596A>C	c.(1594-1596)GAA>GAC	p.E532D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.E532D|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	532	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121652348	121652348	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121652348C>T	uc003vjy.2	+	12	3643	c.3248C>T	c.(3247-3249)GCG>GTG	p.A1083V	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1083	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121694043	121694043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121694043G>A	uc003vjy.2	+	26	6727	c.6332G>A	c.(6331-6333)TGG>TAG	p.W2111*	PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.W1244*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.W701*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2111	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121719675	121719675	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121719675T>C	uc003vka.2	-	20	2468	c.2372A>G	c.(2371-2373)AAT>AGT	p.N791S	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.N791S|AASS_uc011knw.1_Missense_Mutation_p.N279S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	791	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
AASS	10157	broad.mit.edu	37	7	121773641	121773641	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121773641A>G	uc003vka.2	-	1	236	c.140T>C	c.(139-141)ATC>ACC	p.I47T	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.I47T|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	47	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	121960379	121960379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121960379T>C	uc010lkp.2	-	29	3894	c.3731A>G	c.(3730-3732)GAC>GGC	p.D1244G	CADPS2_uc011knx.1_Missense_Mutation_p.D619G|CADPS2_uc003vkg.3_Missense_Mutation_p.D898G|CADPS2_uc010lkq.2_Missense_Mutation_p.D1203G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1244					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342388	122342388	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122342388T>A	uc003vkk.1	-	1	634	c.417A>T	c.(415-417)GTA>GTT	p.V139V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	139	PA.					integral to membrane	zinc ion binding				0																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635453	122635453	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635453C>A	uc003vkl.1	-	1	302	c.236G>T	c.(235-237)TGC>TTC	p.C79F		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	79	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635559	122635559	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635559G>A	uc003vkl.1	-	1	196	c.130C>T	c.(130-132)CCT>TCT	p.P44S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	44	Helical; Name=2; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635650	122635650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635650G>T	uc003vkl.1	-	1	105	c.39C>A	c.(37-39)ATC>ATA	p.I13I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	13	Helical; Name=1; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124387074	124387074	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:124387074A>G	uc003vli.2	-	2	1998	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	449	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173162	126173162	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173162G>A	uc003vlr.2	-	8	2585	c.2274C>T	c.(2272-2274)CTC>CTT	p.L758L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L758L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	758	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127238634	127238634	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127238634A>G	uc003vmd.1	+	4	1325	c.1106A>G	c.(1105-1107)AAT>AGT	p.N369S	FSCN3_uc011koh.1_Missense_Mutation_p.N235S|FSCN3_uc010llc.1_Missense_Mutation_p.N369S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	369						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127240464	127240464	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127240464G>T	uc003vmd.1	+						FSCN3_uc010llc.1_Intron	NM_020369	NP_065102			fascin 3							actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127361418	127361418	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127361418C>T	uc003vmi.2	+	10	1342	c.1116C>T	c.(1114-1116)AGC>AGT	p.S372S	SND1_uc010lle.2_Silent_p.S25S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	372	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SND1	27044	broad.mit.edu	37	7	127731895	127731895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127731895G>A	uc003vmi.2	+	23	2855	c.2629G>A	c.(2629-2631)GAA>AAA	p.E877K	SND1_uc010lle.2_Missense_Mutation_p.E530K	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	877					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128038643	128038643	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128038643C>T	uc011kol.1	-	7	750	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	IMPDH1_uc011kom.1_Missense_Mutation_p.C210Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.C190Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.C300Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.C290Y|IMPDH1_uc011kon.1_Missense_Mutation_p.C267Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.C264Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.C223Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.C231Y	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	215	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128452045	128452045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128452045C>T	uc003vnv.1	+	13	2587	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.S556S|CCDC136_uc010llq.1_Silent_p.S109S|CCDC136_uc003vny.1_Silent_p.S350S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	740						integral to membrane	protein binding			ovary(2)	2																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128470877	128470877	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128470877C>T	uc003vnz.3	+	1	395	c.186C>T	c.(184-186)CGC>CGT	p.R62R	FLNC_uc003voa.3_Silent_p.R62R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	62	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478072	128478072	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128478072G>A	uc003vnz.3	+	6	1210	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	FLNC_uc003voa.3_Missense_Mutation_p.R334H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	334	Filamin 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610202	128610202	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128610202C>T	uc003vol.1	-	20	2972	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P	TNPO3_uc010llx.1_Silent_p.P277P|TNPO3_uc003vom.1_Silent_p.P800P|TNPO3_uc010lly.1_Silent_p.P900P|TNPO3_uc010llz.1_Silent_p.P802P	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	866					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128804332	128804332	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128804332T>C	uc003vop.1	+	5	610	c.381T>C	c.(379-381)AGT>AGC	p.S127S	TSPAN33_uc003voq.1_5'Flank	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	127	Extracellular (Potential).					integral to membrane				ovary(1)	1																OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SMO	6608	broad.mit.edu	37	7	128843398	128843398	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128843398T>G	uc003vor.2	+	2	785	c.505T>G	c.(505-507)TGC>GGC	p.C169G		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	169	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37								Mis		skin basal cell 								---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122759	129122759	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122759T>A	uc011koy.1	+	20	2166	c.2126T>A	c.(2125-2127)GTC>GAC	p.V709D	FAM40B_uc003vow.2_Missense_Mutation_p.V709D|FAM40B_uc011koz.1_Missense_Mutation_p.V201D	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	709											0																		---	---	---	---
FAM40B	57464	broad.mit.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129122851C>T	uc011koy.1	+	20	2258	c.2218C>T	c.(2218-2220)CGT>TGT	p.R740C	FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	740											0																		---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131113829	131113829	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131113829A>G	uc011kpm.1	+	9	949	c.885A>G	c.(883-885)CAA>CAG	p.Q295Q	MKLN1_uc011kpl.1_Silent_p.Q272Q|MKLN1_uc010lmh.2_Silent_p.Q295Q|MKLN1_uc003vqs.2_Silent_p.Q88Q	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	295	Kelch 1.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)																	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131883351	131883351	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131883351A>C	uc003vra.3	-	13	2860	c.2631T>G	c.(2629-2631)ACT>ACG	p.T877T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	877	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131982870	131982870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131982870A>G	uc003vra.3	-	4	1712	c.1483T>C	c.(1483-1485)TAC>CAC	p.Y495H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	495	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132192892	132192892	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132192892C>T	uc003vra.3	-	2	790	c.561G>A	c.(559-561)ACG>ACA	p.T187T	PLXNA4_uc003vrc.2_Silent_p.T187T|PLXNA4_uc003vrb.2_Silent_p.T187T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	187	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132959843	132959843	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132959843C>T	uc003vrk.2	+	2	228	c.193C>T	c.(193-195)CAC>TAC	p.H65Y	EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.H65Y|EXOC4_uc003vrj.2_Missense_Mutation_p.H65Y	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	65	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133002097	133002097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133002097G>A	uc003vrk.2	+	5	751	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	EXOC4_uc011kpo.1_Missense_Mutation_p.R138Q|EXOC4_uc003vri.2_Missense_Mutation_p.R239Q|EXOC4_uc003vrj.2_Missense_Mutation_p.R239Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	239					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134133174	134133174	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134133174G>A	uc003vrp.1	-	6	698	c.624C>T	c.(622-624)ACC>ACT	p.T208T	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	208					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)													---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134221503	134221503	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134221503A>G	uc003vrr.2	+	5	851	c.531A>G	c.(529-531)AAA>AAG	p.K177K		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	177					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5																		---	---	---	---
BPGM	669	broad.mit.edu	37	7	134346583	134346583	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134346583T>C	uc003vrv.2	+	3	865	c.324T>C	c.(322-324)GGT>GGC	p.G108G	BPGM_uc003vrw.2_Silent_p.G108G|BPGM_uc003vrx.2_Silent_p.G108G	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	108					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135098336	135098336	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135098336G>A	uc003vsv.1	-	6	895	c.588C>T	c.(586-588)TGC>TGT	p.C196C	CNOT4_uc003vss.2_Silent_p.C196C|CNOT4_uc011kpz.1_Silent_p.C196C|CNOT4_uc003vst.2_Silent_p.C196C|CNOT4_uc003vsu.1_Silent_p.C196C|CNOT4_uc011kpy.1_Silent_p.C196C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	196	C3H1-type.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135282958	135282958	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135282958T>C	uc003vsw.2	+							NM_015135	NP_055950			nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135292081	135292081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135292081G>A	uc003vsw.2	+	22	3188	c.3157G>A	c.(3157-3159)GTG>ATG	p.V1053M		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1053					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135304309	135304309	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135304309G>A	uc003vsw.2	+	29	4133	c.4102G>A	c.(4102-4104)GCT>ACT	p.A1368T	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1368					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135309918	135309918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135309918G>A	uc003vsw.2	+	32	4517	c.4486G>A	c.(4486-4488)GCC>ACC	p.A1496T	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1496					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135333207	135333207	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135333207A>T	uc003vsw.2	+	43	5973	c.5942A>T	c.(5941-5943)GAC>GTC	p.D1981V	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1981					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135392908	135392908	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135392908G>A	uc003vta.2	-	3	1008	c.319C>T	c.(319-321)CGC>TGC	p.R107C	SLC13A4_uc003vtb.2_Missense_Mutation_p.R107C|SLC13A4_uc003vtc.1_Missense_Mutation_p.R107C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	107						integral to plasma membrane	sodium:sulfate symporter activity				0																		---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136587912	136587912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136587912T>C	uc003vtf.1	+						CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron|MIR490_hsa-mir-490|MI0003125_5'Flank	NM_001006630	NP_001006631			cholinergic receptor, muscarinic 2						activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137282651	137282651	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137282651A>C	uc003vtt.2	-	12	1254	c.1253T>G	c.(1252-1254)CTT>CGT	p.L418R	DGKI_uc003vtu.2_Missense_Mutation_p.L118R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	418	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137590509	137590509	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137590509A>G	uc003vtw.2	-	6	1249	c.854T>C	c.(853-855)TTG>TCG	p.L285S	CREB3L2_uc003vtx.1_Missense_Mutation_p.L285S|CREB3L2_uc003vtv.2_Missense_Mutation_p.L222S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	285	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160								T	FUS	fibromyxoid sarcoma								---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137773399	137773399	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137773399A>G	uc003vtz.2	+	2	215	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	AKR1D1_uc011kqb.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.Y49C|AKR1D1_uc011kqf.1_Missense_Mutation_p.Y49C	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	49					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138210040	138210040	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138210040A>G	uc003vuc.2	+	5	1034	c.819A>G	c.(817-819)CTA>CTG	p.L273L	TRIM24_uc003vub.2_Silent_p.L273L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	273					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138235936	138235936	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138235936A>G	uc003vuc.2	+						TRIM24_uc003vub.2_Intron	NM_015905	NP_056989			transcriptional intermediary factor 1 alpha						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138556002	138556002	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138556002A>G	uc011kql.1	-	13	4501	c.4452T>C	c.(4450-4452)AGT>AGC	p.S1484S	KIAA1549_uc011kqi.1_Silent_p.S268S|KIAA1549_uc003vuk.3_Silent_p.S1434S|KIAA1549_uc011kqj.1_Silent_p.S1484S|KIAA1549_uc011kqk.1_Silent_p.S268S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1484						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603255	138603255	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603255A>G	uc011kql.1	-	2	1166	c.1117T>C	c.(1117-1119)TCA>CCA	p.S373P	KIAA1549_uc003vuk.3_Missense_Mutation_p.S323P|KIAA1549_uc011kqj.1_Missense_Mutation_p.S373P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	373						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603418	138603418	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603418A>G	uc011kql.1	-	2	1003	c.954T>C	c.(952-954)AGT>AGC	p.S318S	KIAA1549_uc003vuk.3_Silent_p.S268S|KIAA1549_uc011kqj.1_Silent_p.S318S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	318						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603691	138603691	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603691A>T	uc011kql.1	-	2	730	c.681T>A	c.(679-681)AGT>AGA	p.S227R	KIAA1549_uc003vuk.3_Missense_Mutation_p.S177R|KIAA1549_uc011kqj.1_Missense_Mutation_p.S227R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	227						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764213	138764213	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764213T>C	uc003vun.2	-						ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Intron	NM_020119	NP_064504			zinc finger antiviral protein isoform 1						response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764925	138764925	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764925A>G	uc003vun.2	-	4	1150	c.762T>C	c.(760-762)TTT>TTC	p.F254F	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.F254F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	254	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138854101	138854101	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138854101A>G	uc003vus.2	+						TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_Intron|TTC26_uc003vut.2_Intron|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202			tetratricopeptide repeat domain 26 isoform 1								binding			ovary(1)	1																		---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138968607	138968607	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138968607A>G	uc011kqr.1	+	15	2956	c.2956A>G	c.(2956-2958)ACC>GCC	p.T986A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	986	Ser-rich.									ovary(1)|skin(1)	2																		---	---	---	---
KLRG2	346689	broad.mit.edu	37	7	139168212	139168212	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139168212G>A	uc003vvb.2	-	1	246	c.177C>T	c.(175-177)GGC>GGT	p.G59G	KLRG2_uc010lnc.2_Silent_p.G59G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	59	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)																	---	---	---	---
JHDM1D	80853	broad.mit.edu	37	7	139826622	139826622	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139826622T>A	uc003vvm.2	-	6	707	c.703A>T	c.(703-705)ATG>TTG	p.M235L		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	235	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)																	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140439719	140439719	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140439719G>A	uc003vwc.3	-	17	2081	c.2020C>T	c.(2020-2022)CTG>TTG	p.L674L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	674	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
AGK	55750	broad.mit.edu	37	7	141341172	141341172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141341172C>T	uc003vwi.2	+	12	1022	c.851C>T	c.(850-852)GCG>GTG	p.A284V	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	284					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)																	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141422951	141422951	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141422951G>A	uc003vwn.2	+	6	1304	c.898G>A	c.(898-900)GCT>ACT	p.A300T	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	300	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)																	---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464641	141464641	+	Missense_Mutation	SNP	C	T	T	rs149980259		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141464641C>T	uc003vwp.1	+	1	745	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	228	Cytoplasmic (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478688	141478688	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141478688C>T	uc003vwq.1	+	1	400	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	134	Helical; Name=4; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)														---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141724940	141724940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141724940A>G	uc003vwy.2	+	8	1027	c.973A>G	c.(973-975)AAT>GAT	p.N325D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	325	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141765238	141765238	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141765238G>A	uc003vwy.2	+	38	4642	c.4588G>A	c.(4588-4590)GCA>ACA	p.A1530T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1530	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	142495163	142495163	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142495163C>T	uc011ksh.1	+						uc011ksi.1_Intron|uc003vzw.1_RNA|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_5'Flank|uc003wbe.3_Intron|uc003wbf.3_Intron|uc003wbg.3_Intron|uc003wbh.3_Intron|uc003wbi.3_Intron|uc003wbj.3_Intron|uc003wbm.3_Intron|uc003wbn.3_Intron|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	142499034	142499034	+	RNA	SNP	C	T	T	rs61732509	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142499034C>T	uc011ksh.1	+	3		c.413C>T			uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Missense_Mutation_p.S150L|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																														---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142611854	142611854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142611854C>T	uc003wby.1	-	12	1739	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	492	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)																	---	---	---	---
C7orf34	135927	broad.mit.edu	37	7	142637475	142637475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142637475C>T	uc003wca.2	+	2	286	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	57						extracellular region					0	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142638398	142638398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142638398A>G	uc003wcb.2	-	19	2350	c.2140T>C	c.(2140-2142)TAT>CAT	p.Y714H		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	714	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142640415	142640415	+	Silent	SNP	G	A	A	rs145850557		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142640415G>A	uc003wcb.2	-	16	1929	c.1719C>T	c.(1717-1719)GGC>GGT	p.G573G		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	573	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881269	142881269	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881269G>T	uc011ksw.1	+	1	758	c.758G>T	c.(757-759)AGC>ATC	p.S253I		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	253	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R39	259285	broad.mit.edu	37	7	142881406	142881406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142881406A>G	uc011ksw.1	+	1	895	c.895A>G	c.(895-897)ATC>GTC	p.I299V		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	299	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919425	142919425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142919425G>A	uc011ksx.1	+	1	254	c.254G>A	c.(253-255)CGA>CAA	p.R85Q		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143013357	143013357	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143013357A>G	uc003wcr.1	+	1	139	c.52A>G	c.(52-54)AGT>GGT	p.S18G	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	18	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143039041	143039041	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143039041T>C	uc003wcr.1	+	15	1689	c.1602T>C	c.(1600-1602)GGT>GGC	p.G534G	CLCN1_uc011ktc.1_Silent_p.G146G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	534					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747579	143747579	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143747579C>A	uc011ktw.1	+	1	85	c.85C>A	c.(85-87)CTT>ATT	p.L29I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)																	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144150652	144150652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144150652C>T	uc003weq.2	-	9	821	c.718G>A	c.(718-720)GCC>ACC	p.A240T	TPK1_uc003weo.2_Missense_Mutation_p.A186T|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.A191T|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	240					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707793	144707793	+	IGR	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707793C>G								TPK1 (174647 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	144707921	144707921	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144707921A>T								TPK1 (174775 upstream) : None (None downstream)																																			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805249	146805249	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146805249T>A	uc003weu.1	+	5	1077	c.561T>A	c.(559-561)GTT>GTA	p.V187V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	187	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147844651	147844651	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147844651A>G	uc003weu.1	+	17	3139	c.2623A>G	c.(2623-2625)ACC>GCC	p.T875A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	875	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148497652	148497652	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148497652A>G	uc010lpg.2	+	22	2835	c.2309A>G	c.(2308-2310)GAC>GGC	p.D770G	CUL1_uc003wey.2_Missense_Mutation_p.D770G|CUL1_uc003wez.2_Missense_Mutation_p.D660G|CUL1_uc003wfa.2_Missense_Mutation_p.D431G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148525902	148525902	+	Silent	SNP	G	A	A	rs137864062		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148525902G>A	uc003wfd.1	-	6	721	c.555C>T	c.(553-555)GAC>GAT	p.D185D	EZH2_uc011kug.1_Silent_p.D176D|EZH2_uc003wfb.1_Silent_p.D185D|EZH2_uc003wfc.1_Silent_p.D146D|EZH2_uc011kuh.1_Silent_p.D176D|EZH2_uc011kui.1_Silent_p.D185D|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	185	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769148	148769148	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148769148T>A	uc003wfh.2	-	4	853	c.716A>T	c.(715-717)CAC>CTC	p.H239L	ZNF786_uc011kuk.1_Missense_Mutation_p.H202L|ZNF786_uc003wfi.2_Missense_Mutation_p.H153L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148800939	148800939	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148800939T>C	uc003wfj.2	-	4	2097	c.2024A>G	c.(2023-2025)TAC>TGC	p.Y675C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	675	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148895675	148895675	+	Missense_Mutation	SNP	C	T	T	rs139886507		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148895675C>T	uc003wfm.2	+	2	521	c.416C>T	c.(415-417)ACG>ATG	p.T139M	ZNF282_uc011kun.1_Missense_Mutation_p.T139M|ZNF282_uc003wfn.2_Missense_Mutation_p.T79M|ZNF282_uc003wfo.2_Missense_Mutation_p.T79M	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	139					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	148978623	148978623	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148978623C>T	uc003wfr.3	+						uc011kuo.1_5'Flank					Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.																														---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129101	149129101	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129101C>T	uc003wfv.2	-	6	2425	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129387	149129387	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129387G>A	uc003wfv.2	-	6	2139	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152807	149152807	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149152807T>C	uc003wfv.2	-	2	470	c.307A>G	c.(307-309)ACC>GCC	p.T103A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149467579	149467579	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149467579T>C	uc003wgd.2	-	3	242	c.101A>G	c.(100-102)CAG>CGG	p.Q34R	ZNF467_uc003wgc.2_Missense_Mutation_p.Q34R	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149516491	149516491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149516491G>A	uc010lpk.2	+	85	11894	c.11894G>A	c.(11893-11895)GGC>GAC	p.G3965D	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3965	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149529972	149529972	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149529972C>T	uc010lpk.2	+	111	15386	c.15386C>T	c.(15385-15387)CCG>CTG	p.P5129L	SSPO_uc003wgh.2_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	5129	CTCK.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149557749	149557749	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149557749A>G	uc010lpn.2	+	7	1692	c.1500A>G	c.(1498-1500)TCA>TCG	p.S500S	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	500	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1																		---	---	---	---
ATP6V0E2	155066	broad.mit.edu	37	7	149575841	149575841	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149575841T>C	uc003wgr.2	+						ATP6V0E2_uc003wgs.2_Intron|ATP6V0E2_uc003wgp.2_Missense_Mutation_p.V125A|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265			ATPase, H+ transporting, V0 subunit isoform 1						ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)															---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174507	150174507	+	Missense_Mutation	SNP	C	T	T	rs146125013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150174507C>T	uc003whj.2	+	5	1967	c.1637C>T	c.(1636-1638)GCG>GTG	p.A546V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150270151	150270151	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150270151T>C	uc003whl.2	+	3					GIMAP4_uc011kuu.1_3'UTR|GIMAP4_uc011kuv.1_3'UTR	NM_018326	NP_060796			GTPase, IMAP family member 4								GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553893	150553893	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553893C>T	uc003why.1	+	3	4553	c.335C>T	c.(334-336)ACC>ATC	p.T112I	ABP1_uc003whz.1_Missense_Mutation_p.T112I|ABP1_uc003wia.1_Missense_Mutation_p.T112I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	112					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150553979	150553979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150553979A>G	uc003why.1	+	3	4639	c.421A>G	c.(421-423)AGG>GGG	p.R141G	ABP1_uc003whz.1_Missense_Mutation_p.R141G|ABP1_uc003wia.1_Missense_Mutation_p.R141G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	141					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ABP1	26	broad.mit.edu	37	7	150555934	150555934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150555934C>T	uc003why.1	+	4	5872	c.1654C>T	c.(1654-1656)CCA>TCA	p.P552S	ABP1_uc003whz.1_Missense_Mutation_p.P552S|ABP1_uc003wia.1_Missense_Mutation_p.P552S	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	552					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150715789	150715789	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150715789T>C	uc011kvc.1	-	6	1712	c.1636A>G	c.(1636-1638)ACC>GCC	p.T546A	ATG9B_uc003wig.3_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	546	Helical; (Potential).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150752108	150752108	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150752108G>T	uc003wir.1	-							NM_004935	NP_004926			cyclin-dependent kinase 5 isoform 1						activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)														---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150932145	150932145	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150932145T>A	uc003wjr.1	+	2	1788	c.275T>A	c.(274-276)ATC>AAC	p.I92N	CHPF2_uc003wjq.1_Missense_Mutation_p.I84N	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1																		---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151049913	151049913	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151049913T>C	uc003wjx.2	+	5	437	c.432T>C	c.(430-432)TTT>TTC	p.F144F	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.F120F|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_5'Flank	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	120					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151053219	151053219	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151053219G>T	uc003wjx.2	+	7	681	c.676G>T	c.(676-678)GAG>TAG	p.E226*	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Nonsense_Mutation_p.E202*|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	202	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151716738	151716738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151716738T>C	uc003wkp.2	+	9	1407	c.1184T>C	c.(1183-1185)TTT>TCT	p.F395S	GALNTL5_uc003wkq.2_Missense_Mutation_p.F146S|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.F284S	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	395	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151845492	151845492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151845492T>C	uc003wla.2	-	52	13739	c.13520A>G	c.(13519-13521)AAA>AGA	p.K4507R	MLL3_uc003wkz.2_Missense_Mutation_p.K3625R|MLL3_uc003wkx.2_Missense_Mutation_p.K665R|MLL3_uc003wky.2_Missense_Mutation_p.K2071R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4507					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151859810	151859810	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151859810A>T	uc003wla.2	-	43	11071	c.10852T>A	c.(10852-10854)TCC>ACC	p.S3618T	MLL3_uc003wkz.2_Missense_Mutation_p.S2679T|MLL3_uc003wky.2_Missense_Mutation_p.S1127T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3618					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151864460	151864460	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151864460T>A	uc003wla.2	-	42	9740	c.9521A>T	c.(9520-9522)GAT>GTT	p.D3174V	MLL3_uc003wkz.2_Missense_Mutation_p.D2235V|MLL3_uc003wky.2_Missense_Mutation_p.D683V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3174	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151873608	151873608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151873608G>T	uc003wla.2	-	38	9149	c.8930C>A	c.(8929-8931)TCT>TAT	p.S2977Y	MLL3_uc003wkz.2_Missense_Mutation_p.S2038Y|MLL3_uc003wky.2_Missense_Mutation_p.S486Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2977					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151874681	151874681	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151874681T>C	uc003wla.2	-	38	8076	c.7857A>G	c.(7855-7857)CTA>CTG	p.L2619L	MLL3_uc003wkz.2_Silent_p.L1680L|MLL3_uc003wky.2_Silent_p.L128L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2619	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151917681	151917681	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151960175	151960175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151960175A>G	uc003wla.2	-	9	1444	c.1225T>C	c.(1225-1227)TGT>CGT	p.C409R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	409	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346370	152346370	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152346370A>G	uc003wld.2	-	3	286	c.200T>C	c.(199-201)CTT>CCT	p.L67P		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	67					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)									Homologous_recombination					---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154645512	154645512	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154645512G>A	uc003wlk.2	+	17	1818	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	DPP6_uc003wli.2_Silent_p.T499T|DPP6_uc003wlm.2_Silent_p.T501T|DPP6_uc011kvq.1_Silent_p.T456T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	563	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154863077	154863077	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154863077C>T	uc003wlu.1	+	1	532	c.468C>T	c.(466-468)TGC>TGT	p.C156C	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	156	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)														---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094494	155094494	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155094494C>A	uc003wly.2	+	5	953	c.742C>A	c.(742-744)CTC>ATC	p.L248I	INSIG1_uc011kvu.1_Missense_Mutation_p.L96I|INSIG1_uc003wlz.2_Silent_p.G150G	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	248	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156758976	156758976	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156758976G>T	uc003wmy.2	+	8	2061	c.2046G>T	c.(2044-2046)AAG>AAT	p.K682N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	682	MI.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)														---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157009567	157009567	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157009567A>T	uc010lqs.2	+	14	2128	c.1816A>T	c.(1816-1818)ACC>TCC	p.T606S	UBE3C_uc003wng.2_Missense_Mutation_p.T606S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	606					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)														---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157985112	157985112	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157985112T>A	uc003wno.2	-	5	577	c.456A>T	c.(454-456)CGA>CGT	p.R152R	PTPRN2_uc003wnp.2_Silent_p.R135R|PTPRN2_uc003wnq.2_Silent_p.R152R|PTPRN2_uc003wnr.2_Silent_p.R114R|PTPRN2_uc011kwa.1_Silent_p.R175R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	152	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158447815	158447815	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158447815T>C	uc003wnv.1	-	21	2786	c.2641A>G	c.(2641-2643)ATC>GTC	p.I881V	NCAPG2_uc010lqu.1_Missense_Mutation_p.I673V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwe.1_Missense_Mutation_p.I881V|NCAPG2_uc011kwc.1_Missense_Mutation_p.I382V|NCAPG2_uc011kwd.1_Missense_Mutation_p.I324V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	881					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158829484	158829484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158829484G>A	uc003woh.2	-	7	893	c.707C>T	c.(706-708)CCC>CTC	p.P236L	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	236	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
ZNF596	169270	broad.mit.edu	37	8	196313	196313	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:196313A>G	uc003wot.2	+	6	1754	c.1466A>G	c.(1465-1467)AAC>AGC	p.N489S	ZNF596_uc003wou.2_Missense_Mutation_p.N388S|ZNF596_uc003wov.2_Missense_Mutation_p.N489S|ZNF596_uc003wow.2_Missense_Mutation_p.N489S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	489	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)														---	---	---	---
C8orf42	157695	broad.mit.edu	37	8	442651	442651	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:442651T>G	uc003wpd.2	-	3	880	c.306A>C	c.(304-306)AAA>AAC	p.K102N	C8orf42_uc011kwg.1_Missense_Mutation_p.K102N	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	102											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)														---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	614628	614628	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:614628A>T	uc003wph.2	-	6	1372	c.1307T>A	c.(1306-1308)ATC>AAC	p.I436N	ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	436										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497551	1497551	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497551C>T	uc003wpl.2	+	2	789	c.692C>T	c.(691-693)ACG>ATG	p.T231M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497607	1497607	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1497607G>A	uc003wpl.2	+	2	845	c.748G>A	c.(748-750)GCG>ACG	p.A250T	DLGAP2_uc003wpm.2_Missense_Mutation_p.A250T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)														---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1719553	1719553	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1719553G>A	uc003wpo.3	+	2	638	c.333G>A	c.(331-333)ACG>ACA	p.T111T		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	111	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1828298	1828298	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1828298A>T	uc003wpr.2	+	9	1106	c.928A>T	c.(928-930)ATT>TTT	p.I310F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.I335F|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	335	Potential.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851564	1851564	+	Missense_Mutation	SNP	C	T	T	rs141069028		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851564C>T	uc003wpr.2	+	16	1946	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.R614C|ARHGEF10_uc003wps.2_Missense_Mutation_p.R552C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.R466C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.R323C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R270C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	615					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1877548	1877548	+	Silent	SNP	G	A	A	rs148672492	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1877548G>A	uc003wpr.2	+	25	3196	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T	ARHGEF10_uc003wps.2_Silent_p.T968T|ARHGEF10_uc010lre.2_Silent_p.T657T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1031					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1904934	1904934	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1904934C>T	uc003wpr.2	+	29	3718	c.3540C>T	c.(3538-3540)TAC>TAT	p.Y1180Y	ARHGEF10_uc003wps.2_Silent_p.Y1142Y|ARHGEF10_uc010lre.2_Silent_p.Y831Y	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1205					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2005502	2005502	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2005502G>T	uc003wpx.3	+	4	438	c.300G>T	c.(298-300)AAG>AAT	p.K100N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	100					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2037899	2037899	+	Silent	SNP	C	G	G	rs144220288		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2037899C>G	uc003wpx.3	+	15	1851	c.1713C>G	c.(1711-1713)GCC>GCG	p.A571A	MYOM2_uc011kwi.1_5'UTR	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	571	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2056581	2056581	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2056581C>T	uc003wpx.3	+	24	3141	c.3003C>T	c.(3001-3003)CTC>CTT	p.L1001L	MYOM2_uc011kwi.1_Silent_p.L426L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1001	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830724	2830724	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830724A>T	uc011kwk.1	-	57	9231	c.8841T>A	c.(8839-8841)TGT>TGA	p.C2947*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.C2276*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.C957*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2947	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830828	2830828	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2830828A>G	uc011kwk.1	-						CSMD1_uc011kwj.1_Intron|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094			CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3038700	3038700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3038700T>C	uc011kwk.1	-	37	6050	c.5660A>G	c.(5659-5661)AAC>AGC	p.N1887S	CSMD1_uc011kwj.1_Missense_Mutation_p.N1279S|CSMD1_uc003wqe.2_Missense_Mutation_p.N1043S|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1887	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087575	3087575	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087575A>G	uc011kwk.1	-	27	4725	c.4335T>C	c.(4333-4335)CCT>CCC	p.P1445P	CSMD1_uc011kwj.1_Silent_p.P837P|CSMD1_uc003wqe.2_Silent_p.P601P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1445	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087584	3087584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087584T>C	uc011kwk.1	-	27	4716	c.4326A>G	c.(4324-4326)CAA>CAG	p.Q1442Q	CSMD1_uc011kwj.1_Silent_p.Q834Q|CSMD1_uc003wqe.2_Silent_p.Q598Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1442	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165968	3165968	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3474301	3474301	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3474301G>A	uc011kwk.1	-	8	1418	c.1028C>T	c.(1027-1029)GCA>GTA	p.A343V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	343	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302609	6302609	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302609T>A	uc003wqi.2	+	8	1434	c.1366T>A	c.(1366-1368)TTT>ATT	p.F456I	MCPH1_uc003wqh.2_Missense_Mutation_p.F456I|MCPH1_uc011kwl.1_Missense_Mutation_p.F408I	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	456						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302810	6302810	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302810A>G	uc003wqi.2	+	8	1635	c.1567A>G	c.(1567-1569)AAT>GAT	p.N523D	MCPH1_uc003wqh.2_Missense_Mutation_p.N523D|MCPH1_uc011kwl.1_Missense_Mutation_p.N475D	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	523						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)														---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8185778	8185778	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8185778G>A	uc003wsh.3	-	4	2514	c.2514C>T	c.(2512-2514)CCC>CCT	p.P838P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	838							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234932	8234932	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8234932G>T	uc003wsh.3	-	2	987	c.987C>A	c.(985-987)TCC>TCA	p.S329S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	329							ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748972	8748972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8748972A>G	uc003wsj.1	-	1	2160	c.1597T>C	c.(1597-1599)TGC>CGC	p.C533R		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	533	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998972	8998972	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998972A>G	uc003wsn.3	-	2	355	c.190T>C	c.(190-192)TCC>CCC	p.S64P	PPP1R3B_uc003wso.3_Missense_Mutation_p.S63P	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	64					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8999110	8999110	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8999110G>A	uc003wsn.3	-	2	217	c.52C>T	c.(52-54)CGC>TGC	p.R18C	PPP1R3B_uc003wso.3_Missense_Mutation_p.R17C	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	18					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9413539	9413539	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9413539A>G	uc003wss.2	+	1	95	c.90A>G	c.(88-90)CCA>CCG	p.P30P	TNKS_uc011kwv.1_Silent_p.P30P|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	30	Poly-Pro.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9622236	9622236	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9622236C>G	uc003wss.2	+	23	3388	c.3383C>G	c.(3382-3384)ACT>AGT	p.T1128S	TNKS_uc011kww.1_Missense_Mutation_p.T891S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1128	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464716	10464716	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10464716G>A	uc003wtc.2	-	4	7121	c.6892C>T	c.(6892-6894)CCT>TCT	p.P2298S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2298					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465537	10465537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10465537T>C	uc003wtc.2	-	4	6300	c.6071A>G	c.(6070-6072)GAG>GGG	p.E2024G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2024					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466551	10466551	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466551G>A	uc003wtc.2	-	4	5286	c.5057C>T	c.(5056-5058)GCC>GTC	p.A1686V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1686					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466938	10466938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466938G>A	uc003wtc.2	-	4	4899	c.4670C>T	c.(4669-4671)GCG>GTG	p.A1557V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1557					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468315	10468315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468315C>T	uc003wtc.2	-	4	3522	c.3293G>A	c.(3292-3294)AGC>AAC	p.S1098N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1098					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468389	10468389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468389C>T	uc003wtc.2	-	4	3448	c.3219G>A	c.(3217-3219)CGG>CGA	p.R1073R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10469390	10469390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10469390C>T	uc003wtc.2	-	4	2447	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	740					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470474	10470474	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10470474C>A	uc003wtc.2	-	4	1363	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	378					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
XKR6	286046	broad.mit.edu	37	8	11058241	11058241	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11058241C>G	uc003wtk.1	-	1	635	c.608G>C	c.(607-609)GGC>GCC	p.G203A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	203						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)														---	---	---	---
MTMR9	66036	broad.mit.edu	37	8	11167152	11167152	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11167152A>G	uc003wtm.2	+	6	1324	c.926A>G	c.(925-927)AAA>AGA	p.K309R	MTMR9_uc010lrx.2_Missense_Mutation_p.K202R|MTMR9_uc011kxa.1_Missense_Mutation_p.K224R	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	309	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)														---	---	---	---
AMAC1L2	83650	broad.mit.edu	37	8	11189446	11189446	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11189446C>A	uc003wtp.1	+	1	952	c.831C>A	c.(829-831)GCC>GCA	p.A277A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	277	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)														---	---	---	---
BLK	640	broad.mit.edu	37	8	11414274	11414274	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11414274G>A	uc003wty.2	+	9	1461	c.880G>A	c.(880-882)GAG>AAG	p.E294K	BLK_uc003wtz.2_Missense_Mutation_p.E223K	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---
DEFB135	613209	broad.mit.edu	37	8	11842018	11842018	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11842018C>T	uc003wuw.1	+	2	153	c.153C>T	c.(151-153)AAC>AAT	p.N51N		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	51					defense response to bacterium	extracellular region					0																		---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12598381	12598381	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12598381A>T	uc003wwd.1	-	3	1026	c.963_splice	c.e3+1	p.K321_splice	LONRF1_uc010lsp.1_Splice_Site	NM_152271	NP_689484			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
C8orf79	57604	broad.mit.edu	37	8	12870187	12870187	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12870187T>G	uc010lsq.2	+						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_5'UTR|C8orf79_uc010lsr.2_5'UTR	NM_020844	NP_065895			hypothetical protein LOC57604 isoform 1								methyltransferase activity				0																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12947943	12947943	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12947943T>C	uc003wwm.2	-	15	4336	c.3892A>G	c.(3892-3894)ACC>GCC	p.T1298A	DLC1_uc003wwk.1_Missense_Mutation_p.T861A|DLC1_uc003wwl.1_Missense_Mutation_p.T895A|DLC1_uc011kxx.1_Missense_Mutation_p.T787A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1298					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957440	12957440	+	Silent	SNP	T	G	G	rs17854877		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12957440T>G	uc003wwm.2	-	9	2850	c.2406A>C	c.(2404-2406)CCA>CCC	p.P802P	DLC1_uc003wwk.1_Silent_p.P365P|DLC1_uc003wwl.1_Silent_p.P399P|DLC1_uc011kxx.1_Silent_p.P291P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	802					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357407	13357407	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357407A>G	uc003wwm.2	-	2	618	c.174T>C	c.(172-174)TGT>TGC	p.C58C	DLC1_uc003wwn.2_Silent_p.C58C|DLC1_uc011kxy.1_Silent_p.C58C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	58					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357493	13357493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13357493C>A	uc003wwm.2	-	2	532	c.88G>T	c.(88-90)GCA>TCA	p.A30S	DLC1_uc003wwn.2_Missense_Mutation_p.A30S|DLC1_uc011kxy.1_Missense_Mutation_p.A30S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	30					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15480695	15480695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15480695G>A	uc003wwt.2	+	2	455	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	TUSC3_uc003wwr.2_Missense_Mutation_p.R82Q|TUSC3_uc003wws.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwu.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwv.2_Missense_Mutation_p.R82Q|TUSC3_uc003www.2_Missense_Mutation_p.R82Q|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R82Q	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	82					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---
EFHA2	286097	broad.mit.edu	37	8	16935341	16935341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16935341C>T	uc003wxd.2	+	4	659	c.617C>T	c.(616-618)TCG>TTG	p.S206L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	206						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---
VPS37A	137492	broad.mit.edu	37	8	17137631	17137631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17137631G>A	uc003wxj.2	+	7	1161	c.808G>A	c.(808-810)GAT>AAT	p.D270N	VPS37A_uc003wxk.2_Missense_Mutation_p.D245N|VPS37A_uc003wxl.2_Missense_Mutation_p.D47N	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	270					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17157398	17157398	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17157398A>G	uc003wxm.2	-	14	2195	c.1956T>C	c.(1954-1956)TCT>TCC	p.S652S	MTMR7_uc011kya.1_Silent_p.S286S|MTMR7_uc011kyb.1_Silent_p.S243S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	652							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17198974	17198974	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17198974G>A	uc003wxm.2	-	6	869	c.630C>T	c.(628-630)TCC>TCT	p.S210S	MTMR7_uc003wxn.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)														---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17401121	17401121	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17401121C>T	uc011kyc.1	+	2	442	c.273C>T	c.(271-273)GCC>GCT	p.A91A	SLC7A2_uc011kyd.1_Silent_p.A131A|SLC7A2_uc011kye.1_Silent_p.A131A|SLC7A2_uc011kyf.1_Silent_p.A91A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	91	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17503433	17503433	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17503433T>G	uc003wxv.2	-	15					MTUS1_uc003wxt.2_3'UTR|MTUS1_uc011kyg.1_3'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_3'UTR|MTUS1_uc003wxs.2_3'UTR	NM_001001924	NP_001001924			mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17810589	17810589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17810589C>T	uc003wyi.3	+	9	1604	c.1182C>T	c.(1180-1182)GTC>GTT	p.V394V	PCM1_uc011kyh.1_Silent_p.V394V|PCM1_uc003wyj.3_Silent_p.V394V|PCM1_uc003wyg.2_Silent_p.V394V|PCM1_uc003wyh.2_Silent_p.V433V|PCM1_uc010lta.1_Silent_p.V433V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	394					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
NAT1	9	broad.mit.edu	37	8	18079909	18079909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18079909A>G	uc010ltd.2	+	5	720	c.353A>G	c.(352-354)AAC>AGC	p.N118S	NAT1_uc003wyt.2_Missense_Mutation_p.N180S|NAT1_uc003wyu.2_Missense_Mutation_p.N118S|NAT1_uc003wyv.2_Missense_Mutation_p.N118S|NAT1_uc010ltc.2_Missense_Mutation_p.N118S|NAT1_uc003wys.2_Missense_Mutation_p.N180S|NAT1_uc003wyr.2_Missense_Mutation_p.N118S|NAT1_uc003wyq.2_Missense_Mutation_p.N118S|NAT1_uc011kyl.1_Missense_Mutation_p.N118S	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	118					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)														---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19276160	19276160	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19276160T>C	uc011kyn.1	-						CSGALNACT1_uc011kyo.1_Intron|CSGALNACT1_uc003wzg.2_Intron|CSGALNACT1_uc011kyp.1_Intron	NM_001130518	NP_001123990			chondroitin sulfate						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19681411	19681411	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19681411C>T	uc003wzj.2	+	7	823	c.692C>T	c.(691-693)TCA>TTA	p.S231L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	231					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19690705	19690705	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19690705G>A	uc003wzj.2	+	12	1534	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	468					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20074720	20074720	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20074720T>C	uc003wzp.2	+						ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684			vacuolar H+ATPase B2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110461	20110461	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)														---	---	---	---
FGF17	8822	broad.mit.edu	37	8	21903733	21903733	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21903733A>G	uc003xag.2	+	3	193	c.181A>G	c.(181-183)ACC>GCC	p.T61A	FGF17_uc003xah.2_Missense_Mutation_p.T50A|FGF17_uc003xai.2_Missense_Mutation_p.T84A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	61					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)														---	---	---	---
EPB49	2039	broad.mit.edu	37	8	21926583	21926583	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21926583C>A	uc011kyt.1	+						EPB49_uc010ltl.2_Intron|EPB49_uc011kys.1_Intron|EPB49_uc010ltn.2_Intron|EPB49_uc011kyu.1_Intron|EPB49_uc011kyv.1_Intron|EPB49_uc010ltq.2_Intron	NM_001114136	NP_001107608			erythrocyte membrane protein band 4.9 isoform 1						actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976568	21976568	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976568T>G	uc003xas.2	-	16	3773	c.3108A>C	c.(3106-3108)TCA>TCC	p.S1036S	HR_uc003xat.2_Silent_p.S1036S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1036	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21976797	21976797	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21976797C>T	uc003xas.2	-	15	3643	c.2978_splice	c.e15-1	p.G993_splice	HR_uc003xat.2_Splice_Site_p.G993_splice	NM_005144	NP_005135			hairless protein isoform a								DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996041	21996041	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996041G>A	uc003xau.1	-	8	1186	c.733C>T	c.(733-735)CGG>TGG	p.R245W	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	245						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)												OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996183	21996183	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21996183C>T	uc003xau.1	-	7	1130	c.677G>A	c.(676-678)CGT>CAT	p.R226H	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	226						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22006022	22006022	+	Missense_Mutation	SNP	C	T	T	rs113893603	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22006022C>T	uc003xav.2	-	8	1587	c.1298G>A	c.(1297-1299)CGC>CAC	p.R433H	LGI3_uc010ltu.2_Missense_Mutation_p.R409H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	433	EAR 5.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22012934	22012934	+	Silent	SNP	C	T	T	rs142850097		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22012934C>T	uc003xav.2	-	2	538	c.249G>A	c.(247-249)GCG>GCA	p.A83A	LGI3_uc010ltu.2_Silent_p.A83A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	83					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22105428	22105428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22105428C>T	uc003xbl.2	+	4	351	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Nonsense_Mutation_p.R90*|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	90					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22137081	22137081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22137081G>A	uc003xbn.2	+	2	330	c.182G>A	c.(181-183)AGG>AAG	p.R61K	PIWIL2_uc011kzf.1_Missense_Mutation_p.R61K|PIWIL2_uc010ltv.2_Missense_Mutation_p.R61K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	61					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22163529	22163529	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22163529G>T	uc003xbn.2	+	13	1693	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	PIWIL2_uc011kzf.1_Missense_Mutation_p.K515N|PIWIL2_uc010ltv.2_Missense_Mutation_p.K515N	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	515					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22262401	22262401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22262401C>T	uc003xbq.3	+	2	353	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	SLC39A14_uc011kzg.1_Nonsense_Mutation_p.Q60*|SLC39A14_uc003xbp.3_Nonsense_Mutation_p.Q60*|SLC39A14_uc011kzh.1_Nonsense_Mutation_p.Q60*	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	60	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)														---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22864590	22864590	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22864590A>G	uc003xcq.2	+	5	1369	c.832A>G	c.(832-834)ATC>GTC	p.I278V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I300V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I285V|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	278	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
TNFRSF10B	8795	broad.mit.edu	37	8	22881771	22881771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22881771T>A	uc003xcu.2	-	8	1232	c.939A>T	c.(937-939)GAA>GAT	p.E313D	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E78D|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E284D|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E133D|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E211D	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	313	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)														---	---	---	---
TNFRSF10C	8794	broad.mit.edu	37	8	22969324	22969324	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22969324A>G	uc003xcy.2	+	2	353	c.152A>G	c.(151-153)GAG>GGG	p.E51G	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	51	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23155621	23155621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23155621C>T	uc003xdh.1	-	14	2599	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	LOXL2_uc010lty.1_Silent_p.A255A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	754					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23167310	23167310	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23167310G>A	uc003xdh.1	-	10	2090	c.1751C>T	c.(1750-1752)GCC>GTC	p.A584V	LOXL2_uc010lty.1_Missense_Mutation_p.A123V	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	584	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23177441	23177441	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23177441A>G	uc003xdh.1	-	8	1766	c.1427T>C	c.(1426-1428)GTC>GCC	p.V476A	LOXL2_uc010lty.1_Missense_Mutation_p.V15A	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	476	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23198524	23198524	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23198524A>G	uc003xdh.1	-	4	1063	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	uc003xdj.2_Intron|uc003xdi.2_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	242	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23538760	23538760	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23538760C>G	uc011kzx.1	-	2	727	c.679G>C	c.(679-681)GGC>CGC	p.G227R	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	227					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)														---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24200626	24200626	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24200626G>A	uc003xdy.2	+	17	1926	c.1843G>A	c.(1843-1845)GCA>ACA	p.A615T	ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.A302T	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	615	Extracellular (Potential).|Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)														---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24356804	24356804	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24356804G>A	uc003xeb.2	+	17	2011	c.1898G>A	c.(1897-1899)TGC>TAC	p.C633Y	ADAM7_uc003xec.2_Missense_Mutation_p.C405Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	633	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771921	24771921	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771921G>A	uc003xed.3	+	1	648	c.615G>A	c.(613-615)GCG>GCA	p.A205A	NEFM_uc011lac.1_Silent_p.A205A|NEFM_uc010lue.2_5'Flank|uc010luc.1_Silent_p.S49S	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	205	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24772257	24772257	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24772257C>T	uc003xed.3	+	1	984	c.951C>T	c.(949-951)ATC>ATT	p.I317I	NEFM_uc011lac.1_Silent_p.I317I|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	317	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24775961	24775961	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24775961G>T	uc003xed.3	+	3	2626	c.2593G>T	c.(2593-2595)GGG>TGG	p.G865W	NEFM_uc011lac.1_Missense_Mutation_p.G647W|NEFM_uc010lue.2_Missense_Mutation_p.G489W	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	865	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25203086	25203086	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25203086C>A	uc003xeg.2	+	26	2850	c.2713C>A	c.(2713-2715)CTT>ATT	p.L905I	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L619I|DOCK5_uc003xei.2_Missense_Mutation_p.L475I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	905						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25293964	25293964	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25293964T>C	uc003xeo.2	-	7	695	c.537A>G	c.(535-537)TCA>TCG	p.S179S	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)														---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25317936	25317936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25317936T>C	uc003xep.1	+	3	577	c.98T>C	c.(97-99)GTG>GCG	p.V33A	PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.V33A|CDCA2_uc003xeq.1_Missense_Mutation_p.V18A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	33					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25718615	25718615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25718615C>T	uc003xes.1	-	13	1309	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	431					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26220238	26220238	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26220238A>C	uc003xeu.2	+	7	978	c.676A>C	c.(676-678)ACA>CCA	p.T226P	PPP2R2A_uc003xek.2_Missense_Mutation_p.T227P|PPP2R2A_uc011laf.1_Missense_Mutation_p.T236P	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	226	WD 4.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26227921	26227921	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26227921G>A	uc003xeu.2	+	10	1638	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	PPP2R2A_uc003xek.2_Missense_Mutation_p.V447M|PPP2R2A_uc011laf.1_Missense_Mutation_p.V456M	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	446	WD 7.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722496	26722496	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26722496C>T	uc003xfh.1	-	1					ADRA1A_uc003xfc.1_5'UTR|ADRA1A_uc010lul.1_5'UTR|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_5'UTR|ADRA1A_uc010lum.1_5'UTR|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_5'UTR	NM_000680	NP_000671			alpha-1A-adrenergic receptor isoform 1						activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---
STMN4	81551	broad.mit.edu	37	8	27097663	27097663	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27097663A>G	uc003xfk.2	-	5	449	c.335T>C	c.(334-336)CTC>CCC	p.L112P	STMN4_uc003xfj.2_Missense_Mutation_p.L139P|STMN4_uc011lai.1_Missense_Mutation_p.L139P|STMN4_uc011laj.1_Missense_Mutation_p.L103P|STMN4_uc011lak.1_Missense_Mutation_p.L139P|STMN4_uc010luo.2_Missense_Mutation_p.L112P			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	112	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)														---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27255114	27255114	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27255114T>A	uc003xfn.1	+	7	821	c.13T>A	c.(13-15)TCC>ACC	p.S5T	PTK2B_uc003xfo.1_Missense_Mutation_p.S5T|PTK2B_uc003xfp.1_Missense_Mutation_p.S5T|PTK2B_uc003xfq.1_Missense_Mutation_p.S5T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)														---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27382949	27382949	+	Missense_Mutation	SNP	G	A	A	rs148677997		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27382949G>A	uc003xfu.2	+	12	1210	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EPHX2_uc010lut.1_Missense_Mutation_p.A377T|EPHX2_uc010luu.2_Missense_Mutation_p.A345T|EPHX2_uc010luv.2_Missense_Mutation_p.A311T|EPHX2_uc003xfv.2_Missense_Mutation_p.A324T|EPHX2_uc010luw.2_Missense_Mutation_p.A311T	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	377	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)													---	---	---	---
CLU	1191	broad.mit.edu	37	8	27457490	27457490	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27457490C>T	uc003xfw.1	-	6	1029	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	CLU_uc010lux.1_Missense_Mutation_p.R189Q|CLU_uc003xfx.1_Missense_Mutation_p.R324Q|CLU_uc003xfy.1_Missense_Mutation_p.R335Q|CLU_uc003xfz.1_Missense_Mutation_p.R376Q	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	324					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)														---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516928	27516928	+	Missense_Mutation	SNP	G	A	A	rs142551514		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27516928G>A	uc003xga.1	+	5	1382	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R414Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	414	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)														---	---	---	---
CCDC25	55246	broad.mit.edu	37	8	27606083	27606083	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27606083T>C	uc003xgc.2	-	6	390	c.277A>G	c.(277-279)ACG>GCG	p.T93A	CCDC25_uc003xgd.2_Missense_Mutation_p.T25A|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	93											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)														---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27650265	27650265	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27650265T>C	uc003xgg.2	+	9	1517	c.1434T>C	c.(1432-1434)ACT>ACC	p.T478T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	478					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)										SC_Phocomelia_syndrome				---	---	---	---
PBK	55872	broad.mit.edu	37	8	27680702	27680702	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27680702T>C	uc003xgi.2	-	4	374	c.173A>G	c.(172-174)CAT>CGT	p.H58R	PBK_uc011lap.1_Missense_Mutation_p.H58R	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	58	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737078	27737078	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737078C>T	uc003xgj.2	-						SCARA5_uc010luz.2_Intron	NM_173833	NP_776194			scavenger receptor class A, member 5						cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27737144	27737144	+	Silent	SNP	G	A	A	rs138986901	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737144G>A	uc003xgj.2	-	8	1733	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SCARA5_uc010luz.2_Silent_p.C206C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	431	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27764677	27764677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27764677G>A	uc003xgj.2	-	6	1524	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	SCARA5_uc010luz.2_Missense_Mutation_p.R137C|SCARA5_uc003xgk.2_Missense_Mutation_p.R319C|SCARA5_uc003xgl.2_Missense_Mutation_p.R362C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28017959	28017959	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28017959A>G	uc003xgo.3	+	13	1619	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ELP3_uc003xgn.3_Missense_Mutation_p.K476E|ELP3_uc011laq.1_Missense_Mutation_p.K419E|ELP3_uc011lar.1_Missense_Mutation_p.K399E|ELP3_uc011las.1_Missense_Mutation_p.K372E|ELP3_uc011lat.1_Missense_Mutation_p.K372E	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	491	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	28019591	28019591	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28019591A>G	uc003xgo.3	+	14	1711	c.1563A>G	c.(1561-1563)ATA>ATG	p.I521M	ELP3_uc003xgn.3_Missense_Mutation_p.I506M|ELP3_uc011laq.1_Missense_Mutation_p.I449M|ELP3_uc011lar.1_Missense_Mutation_p.I429M|ELP3_uc011las.1_Missense_Mutation_p.I402M|ELP3_uc011lat.1_Missense_Mutation_p.I402M	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	521	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210108	28210108	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210108A>T	uc003xgq.2	-	6	990	c.902T>A	c.(901-903)GTC>GAC	p.V301D	ZNF395_uc003xgt.2_Missense_Mutation_p.V301D|ZNF395_uc003xgr.2_Missense_Mutation_p.V301D|ZNF395_uc003xgs.2_Missense_Mutation_p.V301D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	301	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210168	28210168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210168T>C	uc003xgq.2	-	6	930	c.842A>G	c.(841-843)AAG>AGG	p.K281R	ZNF395_uc003xgt.2_Missense_Mutation_p.K281R|ZNF395_uc003xgr.2_Missense_Mutation_p.K281R|ZNF395_uc003xgs.2_Missense_Mutation_p.K281R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	281	C2H2-type.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28413243	28413243	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28413243T>C	uc003xgx.2	+						FZD3_uc010lvb.2_Intron	NM_017412	NP_059108			frizzled 3 precursor						canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)														---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28608394	28608394	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28608394C>T	uc003xgz.1	+	7						NM_001440	NP_001431			exostoses-like 3							integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)														---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28625833	28625833	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28625833A>G	uc003xha.2	-	17	2106	c.1807T>C	c.(1807-1809)TTC>CTC	p.F603L	INTS9_uc011lav.1_Missense_Mutation_p.F579L|INTS9_uc011law.1_Missense_Mutation_p.F582L|INTS9_uc011lax.1_Missense_Mutation_p.F496L|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	603					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)														---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29025093	29025093	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29025093C>T	uc003xhh.3	-	11	1014	c.955G>A	c.(955-957)GGG>AGG	p.G319R	KIF13B_uc003xhj.2_Missense_Mutation_p.G216R|KIF13B_uc010lvf.1_Missense_Mutation_p.G255R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	319					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)														---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30416475	30416475	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30416475T>C	uc003xic.1	+	7	1263	c.598_splice	c.e7+2		RBPMS_uc003xid.1_Splice_Site|RBPMS_uc003xie.1_Splice_Site|RBPMS_uc003xif.1_Splice_Site	NM_006867	NP_006858			RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30436555	30436555	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30436555C>A	uc003xig.2	-							NM_002095	NP_002086			general transcription factor IIE, polypeptide 2,						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30510971	30510971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30510971A>G	uc003xig.2	-	2	398	c.145T>C	c.(145-147)TCA>CCA	p.S49P		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	49					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695219	30695219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30695219G>A	uc003xil.2	-	3	7432	c.7432C>T	c.(7432-7434)CAG>TAG	p.Q2478*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2478										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701846	30701846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30701846T>C	uc003xil.2	-	1	4688	c.4688A>G	c.(4687-4689)TAT>TGT	p.Y1563C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1563										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702154	30702154	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30702154T>C	uc003xil.2	-	1	4380	c.4380A>G	c.(4378-4380)ATA>ATG	p.I1460M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1460										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703082	30703082	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30703082T>C	uc003xil.2	-	1	3452	c.3452A>G	c.(3451-3453)TAT>TGT	p.Y1151C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1151	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704392	30704392	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704392C>A	uc003xil.2	-	1	2142	c.2142G>T	c.(2140-2142)AAG>AAT	p.K714N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	714										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704541	30704541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704541C>T	uc003xil.2	-	1	1993	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	665										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704620	30704620	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30704620T>C	uc003xil.2	-	1	1914	c.1914A>G	c.(1912-1914)TTA>TTG	p.L638L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	638										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
PURG	29942	broad.mit.edu	37	8	30889514	30889514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30889514G>A	uc003xin.2	-	1	804	c.785C>T	c.(784-786)CCA>CTA	p.P262L	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.P262L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	262	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)														---	---	---	---
WRN	7486	broad.mit.edu	37	8	30933738	30933738	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30933738T>C	uc003xio.3	+	8	1562	c.774T>C	c.(772-774)TCT>TCC	p.S258S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	258	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
WRN	7486	broad.mit.edu	37	8	31007893	31007893	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31007893T>G	uc003xio.3	+	31	4397	c.3609T>G	c.(3607-3609)GGT>GGG	p.G1203G	WRN_uc010lvk.2_Silent_p.G670G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1203	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32600216	32600216	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32600216A>G	uc003xiv.2	+						NRG1_uc003xip.2_Missense_Mutation_p.D400G|NRG1_uc010lvn.2_Missense_Mutation_p.D185G|NRG1_uc003xis.2_Missense_Mutation_p.D219G|NRG1_uc011lbf.1_Missense_Mutation_p.D219G|NRG1_uc010lvo.2_Missense_Mutation_p.D219G|NRG1_uc003xiu.2_Missense_Mutation_p.D219G|NRG1_uc003xiw.2_Missense_Mutation_p.D219G|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Missense_Mutation_p.D168G|NRG1_uc010lvq.2_Missense_Mutation_p.D151G|NRG1_uc003xix.2_Missense_Mutation_p.I132V|NRG1_uc003xiy.2_Missense_Mutation_p.D274G|NRG1_uc010lvt.2_Missense_Mutation_p.I231V|NRG1_uc011lbg.1_Intron|NRG1_uc011lbh.1_Missense_Mutation_p.D65G|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Intron	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621679	32621679	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32621679A>C	uc003xiv.2	+	12	2199	c.1682A>C	c.(1681-1683)GAA>GCA	p.E561A	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.E566A|NRG1_uc003xiw.2_Missense_Mutation_p.E558A|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.E303A|NRG1_uc010lvs.2_Missense_Mutation_p.E303A|NRG1_uc010lvp.2_Missense_Mutation_p.E515A|NRG1_uc010lvq.2_Missense_Mutation_p.E498A|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.E404A|NRG1_uc003xja.2_Missense_Mutation_p.E372A	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	561	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33246847	33246847	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33246847A>G	uc003xje.2	-	4	1202	c.846T>C	c.(844-846)AAT>AAC	p.N282N	FUT10_uc003xjc.2_Silent_p.N289N|FUT10_uc003xjd.2_Silent_p.N254N|FUT10_uc011lbi.1_Silent_p.N332N|FUT10_uc003xjf.2_Silent_p.N220N|FUT10_uc003xjg.2_Silent_p.N254N|FUT10_uc003xjh.2_Silent_p.N282N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	282	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)														---	---	---	---
MAK16	84549	broad.mit.edu	37	8	33346248	33346248	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33346248T>A	uc003xjj.2	+						C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898			MAK16 homolog							nucleolus				ovary(1)	1																		---	---	---	---
C8orf41	80185	broad.mit.edu	37	8	33369888	33369888	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33369888G>T	uc003xjl.3	-	1	769	c.244C>A	c.(244-246)CTG>ATG	p.L82M	C8orf41_uc003xjk.3_Missense_Mutation_p.L82M|C8orf41_uc010lvv.2_Missense_Mutation_p.L82M|C8orf41_uc003xjm.3_Missense_Mutation_p.L82M|C8orf41_uc003xjn.1_Missense_Mutation_p.L82M	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	82							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36644837	36644837	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36644837C>T	uc010lvw.2	+	2	296	c.209C>T	c.(208-210)TCA>TTA	p.S70L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	70	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36746729	36746729	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36746729T>G	uc003xjw.2	+						KCNU1_uc010lvw.2_Intron|uc003xjx.2_3'UTR					Homo sapiens cDNA FLJ50072 complete cds, moderately similar to Mus musculus potassium channel, subfamily U, member 1 (Kcnu1), mRNA.							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37556065	37556065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37556065G>A	uc003xjy.1	+	2	1843	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	549					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)															---	---	---	---
BRF2	55290	broad.mit.edu	37	8	37704490	37704490	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37704490T>G	uc003xkk.2	-	3	528	c.418A>C	c.(418-420)ACG>CCG	p.T140P		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	140	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37729405	37729405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37729405A>T	uc003xkm.1	-	4	2959	c.2915T>A	c.(2914-2916)ATA>AAA	p.I972K	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xko.1_Missense_Mutation_p.I301K|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	972					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37734665	37734665	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37734665T>A	uc003xkm.1	-	2	820	c.776A>T	c.(775-777)GAA>GTA	p.E259V	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.E107V|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.E259V|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.E107V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	259					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37964605	37964605	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37964605C>T	uc003xkt.3	+	3	380	c.322C>T	c.(322-324)CGA>TGA	p.R108*	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Nonsense_Mutation_p.R14*|ASH2L_uc010lwa.2_Nonsense_Mutation_p.R14*	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	108					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)																---	---	---	---
STAR	6770	broad.mit.edu	37	8	38005720	38005720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38005720G>A	uc003xkv.1	-	3	568	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	STAR_uc010lwc.1_Nonsense_Mutation_p.Q64*	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	102	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)														---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38103772	38103772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38103772T>A	uc003xlb.2	+	9	1456	c.1079T>A	c.(1078-1080)ATC>AAC	p.I360N	DDHD2_uc003xlc.2_Missense_Mutation_p.I360N|DDHD2_uc011lbl.1_Missense_Mutation_p.I172N|DDHD2_uc003xld.2_5'Flank	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	360					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)															---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205606	38205606	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38205606G>A	uc003xli.2	-	2	602	c.84C>T	c.(82-84)ATC>ATT	p.I28I	WHSC1L1_uc011lbm.1_Silent_p.I28I|WHSC1L1_uc010lwe.2_Silent_p.I28I|WHSC1L1_uc003xlj.2_Silent_p.I28I	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	28					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38264558	38264558	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38264558T>C	uc003xlm.1	+	9	1341	c.1170_splice	c.e9+2	p.K390_splice	LETM2_uc003xll.1_Splice_Site_p.K342_splice|LETM2_uc003xln.1_Splice_Site_p.K234_splice|LETM2_uc003xlo.1_Splice_Site_p.K234_splice	NM_144652	NP_653253			leucine zipper-EF-hand containing transmembrane							integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)															---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38279324	38279324	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38279324C>T	uc003xlp.2	-	8	2014	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	FGFR1_uc011lbo.1_Missense_Mutation_p.V356I|FGFR1_uc011lbp.1_Missense_Mutation_p.V269I|FGFR1_uc011lbq.1_Missense_Mutation_p.V267I|FGFR1_uc010lwk.2_Missense_Mutation_p.V350I|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V198I|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V389I|FGFR1_uc011lbv.1_Missense_Mutation_p.V356I|FGFR1_uc011lbw.1_Missense_Mutation_p.V269I|FGFR1_uc011lbx.1_Missense_Mutation_p.V269I	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	358	Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38282024	38282024	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38282024T>C	uc003xlp.2	-						FGFR1_uc011lbo.1_Intron|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Intron|FGFR1_uc011lbr.1_Intron|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Intron|FGFR1_uc011lbv.1_Intron|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Silent_p.V224V|FGFR1_uc003xlu.2_Silent_p.V222V	NM_023110	NP_075598			fibroblast growth factor receptor 1 isoform 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38911996	38911996	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38911996A>T	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495122	39495122	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39495122A>T	uc003xni.2	+	9	727	c.727A>T	c.(727-729)ATT>TTT	p.I243F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.I219F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	243	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525578	39525578	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39525578A>T	uc003xni.2	+	14	1388	c.1388A>T	c.(1387-1389)TAC>TTC	p.Y463F	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y439F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	463	Disintegrin.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39644522	39644522	+	Missense_Mutation	SNP	C	T	T	rs1059133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39644522C>T	uc003xnj.2	-	10	937	c.862G>A	c.(862-864)GAT>AAT	p.D288N	ADAM2_uc003xnk.2_Missense_Mutation_p.D269N|ADAM2_uc011lck.1_Missense_Mutation_p.D288N|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	288	Extracellular (Potential).|Peptidase M12B.			D -> H (in Ref. 1; AAC51110).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41122885	41122885	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41122885T>C	uc003xnt.2	-	3	1048	c.746A>G	c.(745-747)TAC>TGC	p.Y249C		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	249	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41355108	41355108	+	Silent	SNP	A	G	G	rs149099838		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41355108A>G	uc003xnu.2	+	3	270	c.192A>G	c.(190-192)TCA>TCG	p.S64S	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.S64S	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	64						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
GOLGA7	51125	broad.mit.edu	37	8	41363518	41363518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41363518G>A	uc003xnu.2	+	4	431	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Missense_Mutation_p.R118Q	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	118						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
AGPAT6	137964	broad.mit.edu	37	8	41469463	41469463	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41469463A>G	uc003xnz.2	+	6	1592	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	218					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41577192	41577192	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41577192T>G	uc003xok.2	-	10	1178	c.1094A>C	c.(1093-1095)AAC>ACC	p.N365T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.N365T|ANK1_uc003xoj.2_Missense_Mutation_p.N365T|ANK1_uc003xol.2_Missense_Mutation_p.N365T|ANK1_uc003xom.2_Missense_Mutation_p.N398T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	365	ANK 10.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581066	41581066	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581066T>C	uc003xok.2	-	8	881	c.797A>G	c.(796-798)GAA>GGA	p.E266G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E266G|ANK1_uc003xoj.2_Missense_Mutation_p.E266G|ANK1_uc003xol.2_Missense_Mutation_p.E266G|ANK1_uc003xom.2_Missense_Mutation_p.E299G	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	266	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41581127	41581127	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41581127C>T	uc003xok.2	-	8	820	c.736G>A	c.(736-738)GCC>ACC	p.A246T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A246T|ANK1_uc003xoj.2_Missense_Mutation_p.A246T|ANK1_uc003xol.2_Missense_Mutation_p.A246T|ANK1_uc003xom.2_Missense_Mutation_p.A279T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	246	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42019935	42019935	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42019935A>T	uc003xop.2	+	5	873	c.582A>T	c.(580-582)TCA>TCT	p.S194S	AP3M2_uc003xoo.2_Silent_p.S194S|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.S79S|AP3M2_uc003xor.1_Silent_p.S194S	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	194	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42023011	42023011	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42023011C>T	uc003xop.2	+	7	1027	c.736C>T	c.(736-738)CGC>TGC	p.R246C	AP3M2_uc003xoo.2_Missense_Mutation_p.R246C|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R131C|AP3M2_uc003xor.1_Missense_Mutation_p.R246C	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	246	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42025322	42025322	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42025322A>G	uc003xop.2	+	9	1441	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	AP3M2_uc003xoo.2_Missense_Mutation_p.I384V|AP3M2_uc010lxe.2_RNA	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	384	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)															---	---	---	---
C8orf40	114926	broad.mit.edu	37	8	42401751	42401751	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42401751T>C	uc011lcv.1	+	2	183	c.134_splice	c.e2+2	p.R45_splice	C8orf40_uc003xph.2_Splice_Site_p.R45_splice|C8orf40_uc003xpg.2_Splice_Site_p.R45_splice|C8orf40_uc010lxo.2_Splice_Site_p.R45_splice	NM_001135676	NP_001129148			hypothetical protein LOC114926							cytoplasm|integral to membrane|nucleolus					0	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42924694	42924694	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42924694C>A	uc003xps.2	+						FNTA_uc003xpt.2_Intron|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_Intron	NM_002027	NP_002018			farnesyltransferase, CAAX box, alpha isoform a						cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42932477	42932477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42932477A>G	uc003xps.2	+	6	800	c.752A>G	c.(751-753)AAT>AGT	p.N251S	FNTA_uc003xpt.2_Missense_Mutation_p.N160S|FNTA_uc003xpu.2_Missense_Mutation_p.N184S|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	251					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
SGK196	84197	broad.mit.edu	37	8	42977574	42977574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42977574T>A	uc003xpw.2	+	5	866	c.607T>A	c.(607-609)TGC>AGC	p.C203S		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	203	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0																		---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147761	43147761	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43147761C>A	uc003xpz.1	+	1	177	c.134C>A	c.(133-135)GCT>GAT	p.A45D	POTEA_uc003xqa.1_Missense_Mutation_p.A45D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	45										ovary(1)	1																		---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48309037	48309037	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48309037C>T	uc003xqd.2	+	6	636	c.627C>T	c.(625-627)CAC>CAT	p.H209H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.H209H|KIAA0146_uc010lxs.2_Translation_Start_Site|KIAA0146_uc011ldc.1_Silent_p.H139H|KIAA0146_uc011ldd.1_Silent_p.H149H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	209											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48613001	48613001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48613001G>A	uc003xqd.2	+	12	1731	c.1722G>A	c.(1720-1722)TGG>TGA	p.W574*	KIAA0146_uc011ldb.1_Nonsense_Mutation_p.W574*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.W49*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.W504*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.W514*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.W49*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.W263*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.W263*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.W79*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.W64*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.W68*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	574											0		Lung NSC(58;0.175)																---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48647993	48647993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48647993G>A	uc003xqd.2	+	20	2738	c.2729G>A	c.(2728-2730)GGG>GAG	p.G910E	KIAA0146_uc011ldc.1_Missense_Mutation_p.G840E|KIAA0146_uc011ldd.1_Silent_p.R850R|KIAA0146_uc003xqe.2_Missense_Mutation_p.G385E|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Missense_Mutation_p.G415E|KIAA0146_uc011ldg.1_Missense_Mutation_p.G400E|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	910											0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48689516	48689516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48689516C>T	uc003xqi.2	-	86	12128	c.12071G>A	c.(12070-12072)GGA>GAA	p.G4024E	PRKDC_uc003xqj.2_Missense_Mutation_p.G3993E|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	4024					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48748958	48748958	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48748958A>G	uc003xqi.2	-	59	7949	c.7892T>C	c.(7891-7893)GTG>GCG	p.V2631A	PRKDC_uc003xqj.2_Missense_Mutation_p.V2631A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2631	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49643102	49643102	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49643102T>C	uc003xqo.2	-	3	476	c.316A>G	c.(316-318)AAA>GAA	p.K106E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.K54E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	106	EF-hand 2.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)																---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832964	49832964	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49832964A>G	uc003xqp.2	-	2	280	c.116T>C	c.(115-117)ATG>ACG	p.M39T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	39					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51415351	51415351	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51415351G>T	uc010lxy.1	+	10	748	c.377G>T	c.(376-378)CGG>CTG	p.R126L	SNTG1_uc003xqs.1_Missense_Mutation_p.R126L|SNTG1_uc010lxz.1_Missense_Mutation_p.R126L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321321	52321321	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321321G>T	uc003xqu.3	-	17	2964	c.2863C>A	c.(2863-2865)CTG>ATG	p.L955M	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	955					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321557	52321557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321906	52321906	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321906C>T	uc003xqu.3	-	17	2379	c.2278G>A	c.(2278-2280)GGC>AGC	p.G760S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	760					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53077746	53077746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53077746G>A	uc003xqz.2	-	7	1400	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L	ST18_uc011ldq.1_Missense_Mutation_p.P62L|ST18_uc011ldr.1_Missense_Mutation_p.P380L|ST18_uc011lds.1_Missense_Mutation_p.P320L|ST18_uc003xra.2_Missense_Mutation_p.P415L|ST18_uc003xrb.2_Missense_Mutation_p.P415L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	415	C2HC-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084434	53084434	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084434C>A	uc003xqz.2	-	5	1143	c.987G>T	c.(985-987)AGG>AGT	p.R329S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R294S|ST18_uc011lds.1_Missense_Mutation_p.R234S|ST18_uc003xra.2_Missense_Mutation_p.R329S|ST18_uc003xrb.2_Missense_Mutation_p.R329S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	329						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084924	53084924	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53084924T>A	uc003xqz.2	-	5	653	c.497A>T	c.(496-498)GAG>GTG	p.E166V	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E131V|ST18_uc011lds.1_Missense_Mutation_p.E71V|ST18_uc003xra.2_Missense_Mutation_p.E166V|ST18_uc003xrb.2_Missense_Mutation_p.E166V	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)																---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53569953	53569953	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53569953T>A	uc003xre.3	-	15	2994	c.2436A>T	c.(2434-2436)ATA>ATT	p.I812I	RB1CC1_uc003xrf.3_Silent_p.I812I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	812					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53853261	53853261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53853261C>T	uc011ldu.1	+	1	794	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	265	Helical; Name=6; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)																---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142295	54142295	+	Silent	SNP	G	A	A	rs112014812	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54142295G>A	uc003xrh.1	-	3	1080	c.705C>T	c.(703-705)TTC>TTT	p.F235F	OPRK1_uc003xri.1_Silent_p.F235F|OPRK1_uc010lyc.1_Silent_p.F146F	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	235	Helical; Name=5; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54163422	54163422	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54163422G>A	uc003xrh.1	-	1	551	c.176C>T	c.(175-177)CCG>CTG	p.P59L	OPRK1_uc003xri.1_Missense_Mutation_p.P59L|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	59	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708210	54708210	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708210A>G	uc003xrl.2	-	9	1019	c.867T>C	c.(865-867)TTT>TTC	p.F289F	ATP6V1H_uc003xrk.2_Silent_p.F249F|ATP6V1H_uc003xrm.2_Silent_p.F289F|ATP6V1H_uc003xrn.2_Silent_p.F271F|ATP6V1H_uc011ldv.1_Silent_p.F209F|ATP6V1H_uc010lyd.2_Silent_p.F225F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	289					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708265	54708265	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708265T>A	uc003xrl.2	-	9	964	c.812A>T	c.(811-813)GAT>GTT	p.D271V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D231V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D271V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D253V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D191V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D207V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	271					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54708289	54708289	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54708289T>C	uc003xrl.2	-	9	940	c.788A>G	c.(787-789)TAT>TGT	p.Y263C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.Y223C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Y263C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Y245C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Y183C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Y199C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	263					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
TCEA1	6917	broad.mit.edu	37	8	54891698	54891698	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54891698T>C	uc003xru.2	-	8	1035	c.712A>G	c.(712-714)AAA>GAA	p.K238E	TCEA1_uc003xrv.2_Missense_Mutation_p.K217E|TCEA1_uc011ldw.1_Missense_Mutation_p.K54E|TCEA1_uc010lyg.2_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	238	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)					T	PLAG1	salivary adenoma								---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534073	55534073	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534073T>C	uc003xsd.1	+	2	695	c.547T>C	c.(547-549)TTT>CTT	p.F183L	RP1_uc011ldy.1_Missense_Mutation_p.F183L	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	183	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534123	55534123	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534123C>T	uc003xsd.1	+	2	745	c.597C>T	c.(595-597)TAC>TAT	p.Y199Y	RP1_uc011ldy.1_Silent_p.Y199Y	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	199	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56015541	56015541	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56015541C>T	uc003xsf.2	+	1	525	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	165						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)															---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56698458	56698458	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56698458T>A	uc003xsj.3	+						TGS1_uc010lyh.2_Intron	NM_024831	NP_079107			trimethylguanosine synthase homolog						cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863306	56863306	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56863306T>C	uc003xsk.3	+	6	732	c.450T>C	c.(448-450)GCT>GCC	p.A150A	LYN_uc003xsl.3_Silent_p.A129A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	150	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56910922	56910922	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56910922A>T	uc003xsk.3	+	11	1350	c.1068A>T	c.(1066-1068)GCA>GCT	p.A356A	LYN_uc003xsl.3_Silent_p.A335A	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	356	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
LYN	4067	broad.mit.edu	37	8	56922616	56922616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56922616G>A	uc003xsk.3	+	13	1768	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	LYN_uc003xsl.3_Missense_Mutation_p.V475I	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	496	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
MOS	4342	broad.mit.edu	37	8	57026295	57026295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57026295G>A	uc011leb.1	-	1	247	c.247C>T	c.(247-249)CCT>TCT	p.P83S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	83	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)															---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079567	57079567	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079567T>G	uc003xsq.3	-	3	1189	c.738A>C	c.(736-738)GAA>GAC	p.E246D	PLAG1_uc003xsr.3_Missense_Mutation_p.E246D|PLAG1_uc010lyi.2_Missense_Mutation_p.E246D|PLAG1_uc010lyj.2_Missense_Mutation_p.E164D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	246	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079616	57079616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57079616C>T	uc003xsq.3	-	3	1140	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	PLAG1_uc003xsr.3_Missense_Mutation_p.R230Q|PLAG1_uc010lyi.2_Missense_Mutation_p.R230Q|PLAG1_uc010lyj.2_Missense_Mutation_p.R148Q	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)					T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								---	---	---	---
CHCHD7	79145	broad.mit.edu	37	8	57129004	57129004	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57129004T>C	uc003xsx.2	+	3	165	c.67T>C	c.(67-69)TCC>CCC	p.S23P	CHCHD7_uc003xss.2_Silent_p.L49L|CHCHD7_uc003xst.2_Silent_p.L62L|CHCHD7_uc003xsu.2_Missense_Mutation_p.S35P|CHCHD7_uc003xsv.2_Missense_Mutation_p.S48P|CHCHD7_uc003xsw.2_Silent_p.L37L	NM_001011671	NP_001011671	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain	23	CHCH.								CHCHD7/PLAG1(12)	salivary_gland(12)	12		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)					T	PLAG1	salivary adenoma								---	---	---	---
SDR16C5	195814	broad.mit.edu	37	8	57218238	57218238	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57218238C>G	uc003xsy.1	-	6	1392	c.754G>C	c.(754-756)GAA>CAA	p.E252Q	SDR16C5_uc010lyk.1_Missense_Mutation_p.E252Q|SDR16C5_uc010lyl.1_Missense_Mutation_p.E208Q	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	252					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57890688	57890688	+	Silent	SNP	G	A	A	rs144109066	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57890688G>A	uc003xte.3	-	3	850	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	189						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59488584	59488584	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59488584T>C	uc003xtn.2	+	5	516	c.366T>C	c.(364-366)GAT>GAC	p.D122D	SDCBP_uc003xto.2_Silent_p.D121D|SDCBP_uc003xtr.2_Silent_p.D121D|SDCBP_uc003xtp.2_Silent_p.D116D|SDCBP_uc003xtq.2_Silent_p.D122D|SDCBP_uc003xts.2_Silent_p.D128D|SDCBP_uc011led.1_Intron	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	122	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
SDCBP	6386	broad.mit.edu	37	8	59493089	59493089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59493089C>T	uc003xtn.2	+	8	914	c.764C>T	c.(763-765)GCA>GTA	p.A255V	SDCBP_uc003xto.2_Missense_Mutation_p.A254V|SDCBP_uc003xtr.2_Missense_Mutation_p.A254V|SDCBP_uc003xtp.2_Missense_Mutation_p.A249V|SDCBP_uc003xtq.2_Missense_Mutation_p.A255V|SDCBP_uc003xts.2_Missense_Mutation_p.A261V|SDCBP_uc011led.1_Missense_Mutation_p.A196V	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	255	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59506822	59506822	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59506822G>A	uc003xtt.2	-	23	2134	c.1920C>T	c.(1918-1920)CGC>CGT	p.R640R	NSMAF_uc011lee.1_Silent_p.R671R	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	640	WD 1.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59508110	59508110	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59508110T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59515915	59515915	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59515915C>T	uc003xtt.2	-	13	1113	c.899G>A	c.(898-900)AGC>AAC	p.S300N	NSMAF_uc011lee.1_Missense_Mutation_p.S331N|NSMAF_uc003xtu.2_Missense_Mutation_p.S300N	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	300	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59544052	59544052	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59544052T>C	uc003xtt.2	-						NSMAF_uc011lee.1_Intron|NSMAF_uc003xtu.2_Intron	NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61743114	61743114	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61743114C>T	uc003xue.2	+	15	4233	c.3756C>T	c.(3754-3756)TGC>TGT	p.C1252C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61764653	61764653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61764653G>A	uc003xue.2	+	29	6218	c.5741G>A	c.(5740-5742)CGC>CAC	p.R1914H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1914					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
ASPH	444	broad.mit.edu	37	8	62430081	62430081	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62430081C>T	uc003xuj.2	-						ASPH_uc011leg.1_Intron	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
ASPH	444	broad.mit.edu	37	8	62577909	62577909	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62577909A>C	uc003xuj.2	-						ASPH_uc011leg.1_Intron|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Intron|ASPH_uc011lei.1_Intron|ASPH_uc011lej.1_Intron|ASPH_uc003xun.2_Intron|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Intron|ASPH_uc011lel.1_Missense_Mutation_p.S193R|ASPH_uc011lem.1_Missense_Mutation_p.S178R	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64099143	64099143	+	Missense_Mutation	SNP	A	T	T	rs13255728		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:64099143A>T	uc003xuy.2	+	5	890	c.574A>T	c.(574-576)ACT>TCT	p.T192S	YTHDF3_uc010lys.2_Missense_Mutation_p.T136S|YTHDF3_uc003xuz.2_Missense_Mutation_p.T136S|YTHDF3_uc003xva.2_Missense_Mutation_p.T136S|YTHDF3_uc011len.1_Missense_Mutation_p.T136S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	192											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494116	65494116	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65494116G>A	uc003xvi.2	+	1	1303	c.769G>A	c.(769-771)GAC>AAC	p.D257N	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	257	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MTFR1	9650	broad.mit.edu	37	8	66620183	66620183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66620183C>T	uc003xvm.2	+	7	1082	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MTFR1_uc011lep.1_Silent_p.S290S|MTFR1_uc003xvn.2_Silent_p.S257S|MTFR1_uc003xvo.1_Silent_p.S280S	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	290						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66651787	66651787	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66651787C>A	uc003xvq.2	-	6	557	c.545G>T	c.(544-546)GGA>GTA	p.G182V	PDE7A_uc003xvr.2_Missense_Mutation_p.G182V|PDE7A_uc003xvp.2_Missense_Mutation_p.G156V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	182						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
DNAJC5B	85479	broad.mit.edu	37	8	66963796	66963796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66963796T>C	uc003xvs.1	+	3	305	c.14T>C	c.(13-15)ATA>ACA	p.I5T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	5					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)															---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67364293	67364293	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67364293C>T	uc003xwb.3	+	9	874	c.840C>T	c.(838-840)GAC>GAT	p.D280D	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Silent_p.D232D|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Silent_p.D210D|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)															---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67577516	67577516	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67577516C>T	uc003xwn.2	-	1	1937	c.1678G>A	c.(1678-1680)GGA>AGA	p.G560R	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	560					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)															---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076737	68076737	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68076737C>A	uc003xxi.2	+	24	2943	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H	CSPP1_uc003xxj.2_Missense_Mutation_p.P936H|CSPP1_uc003xxk.2_Missense_Mutation_p.P591H|CSPP1_uc010lyw.2_Missense_Mutation_p.P31H	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	971						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68111167	68111167	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68111167C>T	uc003xxo.1	-	39					ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_3'UTR|ARFGEF1_uc003xxn.1_3'UTR|ARFGEF1_uc003xxp.1_3'UTR	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68115309	68115309	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68115309G>A	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxm.1_Intron|ARFGEF1_uc003xxn.1_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68130014	68130014	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68130014T>C	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron|ARFGEF1_uc003xxn.1_Intron	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150610	68150610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68150610T>C	uc003xxo.1	-	22	3647	c.3257A>G	c.(3256-3258)CAG>CGG	p.Q1086R	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q540R|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q69R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1086					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208816	68208816	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208816G>A	uc003xxo.1	-	5	879	c.489C>T	c.(487-489)CAC>CAT	p.H163H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	163					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208822	68208822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208822T>C	uc003xxo.1	-	5	873	c.483A>G	c.(481-483)TCA>TCG	p.S161S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	161					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68658339	68658339	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68658339C>T	uc003xxq.3	-	1	282	c.26G>A	c.(25-27)GGC>GAC	p.G9D	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.G9D	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	9					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)															---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68930155	68930155	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68930155G>A	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68939498	68939498	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68939498C>A	uc003xxv.1	+	5	510	c.483C>A	c.(481-483)CCC>CCA	p.P161P	PREX2_uc003xxu.1_Silent_p.P161P|PREX2_uc011lez.1_Silent_p.P96P	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	161	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68956765	68956765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68956765C>T	uc003xxv.1	+	8	910	c.883C>T	c.(883-885)CTT>TTT	p.L295F	PREX2_uc003xxu.1_Missense_Mutation_p.L295F|PREX2_uc011lez.1_Missense_Mutation_p.L230F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	295	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68965388	68965388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68965388G>A	uc003xxv.1	+	9	1027	c.1000G>A	c.(1000-1002)GCA>ACA	p.A334T	PREX2_uc003xxu.1_Missense_Mutation_p.A334T|PREX2_uc011lez.1_Missense_Mutation_p.A269T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68993075	68993075	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68993075T>C	uc003xxv.1	+	17	1905	c.1878_splice	c.e17+2	p.E626_splice	PREX2_uc003xxu.1_Splice_Site_p.E626_splice|PREX2_uc011lez.1_Splice_Site_p.E561_splice	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69011996	69011996	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69011996C>A	uc003xxv.1	+	23	2660	c.2633C>A	c.(2632-2634)CCT>CAT	p.P878H	PREX2_uc003xxu.1_Missense_Mutation_p.P878H|PREX2_uc011lez.1_Missense_Mutation_p.P813H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	878					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69015051	69015051	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69015051A>G	uc003xxv.1	+						PREX2_uc003xxu.1_Intron|PREX2_uc011lez.1_Intron	NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69039639	69039639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69039639C>T	uc003xxv.1	+	31	3778	c.3751C>T	c.(3751-3753)CTT>TTT	p.L1251F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1251					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69351824	69351824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69351824C>T	uc010lyz.2	+	2	209	c.160C>T	c.(160-162)CAA>TAA	p.Q54*	C8orf34_uc010lyx.1_Nonsense_Mutation_p.Q54*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.Q54*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.Q29*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	54					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70588860	70588860	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70588860A>C	uc003xyl.2	-	9	2780	c.2073T>G	c.(2071-2073)GTT>GTG	p.V691V	SLCO5A1_uc010lzb.2_Silent_p.V636V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	691	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70971024	70971024	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70971024A>G	uc003xym.2	-	6	1439	c.1237T>C	c.(1237-1239)TAT>CAT	p.Y413H		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	413	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70980555	70980555	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70980555G>A	uc003xym.2	-	4	1024	c.822C>T	c.(820-822)ATC>ATT	p.I274I		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71060570	71060570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71060570G>A	uc003xyn.1	-	12	2705	c.2543C>T	c.(2542-2544)GCT>GTT	p.A848V	NCOA2_uc011lfb.1_Missense_Mutation_p.A5V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	848					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72234492	72234492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72234492T>C	uc003xys.3	-	4	501	c.214A>G	c.(214-216)AGT>GGT	p.S72G	EYA1_uc003xyr.3_Missense_Mutation_p.S72G|EYA1_uc003xyt.3_Missense_Mutation_p.S39G|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.S72G|EYA1_uc011lfe.1_Missense_Mutation_p.S72G|EYA1_uc003xyv.2_5'UTR	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	72					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)															---	---	---	---
MSC	9242	broad.mit.edu	37	8	72755945	72755945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72755945C>T	uc003xyx.1	-	1	787	c.469G>A	c.(469-471)GCT>ACT	p.A157T	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	157	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)													OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72981364	72981364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72981364C>A	uc003xza.2	-	3	513	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	113	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72987597	72987597	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72987597C>A	uc003xza.2	-	1	223	c.48G>T	c.(46-48)GAG>GAT	p.E16D		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	16	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848595	73848595	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848595G>T	uc003xzb.2	+	3	1593	c.1005G>T	c.(1003-1005)TTG>TTT	p.L335F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	335	Helical; Name=Segment S5; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848886	73848886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848886A>G	uc003xzb.2	+	3	1884	c.1296A>G	c.(1294-1296)AAA>AAG	p.K432K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	432	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848931	73848931	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848931A>G	uc003xzb.2	+	3	1929	c.1341A>G	c.(1339-1341)GGA>GGG	p.G447G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	447	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849687	73849687	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849687T>C	uc003xzb.2	+	3	2685	c.2097T>C	c.(2095-2097)AGT>AGC	p.S699S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	699	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76470782	76470782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76470782T>A	uc003yaq.2	+	8	892	c.622T>A	c.(622-624)TGT>AGT	p.C208S	HNF4G_uc003yar.2_Missense_Mutation_p.C245S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	208					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767582	77767582	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767582G>A	uc003yav.2	+	10	8677	c.8290G>A	c.(8290-8292)GCA>ACA	p.A2764T	ZFHX4_uc003yau.1_Missense_Mutation_p.A2809T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2764T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2764						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
TPD52	7163	broad.mit.edu	37	8	80965534	80965534	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:80965534G>A	uc003ybr.1	-	3	709	c.387C>T	c.(385-387)GAC>GAT	p.D129D	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.D89D|TPD52_uc003ybt.1_Silent_p.D89D|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	129					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)															---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81431715	81431715	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81431715C>A	uc003ybx.3	+	6	3166	c.2568C>A	c.(2566-2568)CCC>CCA	p.P856P	ZBTB10_uc003ybv.3_Silent_p.P564P|ZBTB10_uc003ybw.3_Silent_p.P832P|ZBTB10_uc010lzt.2_Silent_p.P854P	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	856					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)															---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82196782	82196782	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82196782A>G	uc003yca.1	+	4	436	c.388A>G	c.(388-390)ATC>GTC	p.I130V		NM_001444	NP_001435	Q01469	FABP5_HUMAN	fatty acid binding protein 5	130	Fatty acid binding (By similarity).				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity				0	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)															---	---	---	---
FABP9	646480	broad.mit.edu	37	8	82373677	82373677	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82373677A>G	uc011lfo.1	-							NM_001080526	NP_001073995			fatty acid binding protein 9, testis								lipid binding|transporter activity				0			Epithelial(68;0.186)															---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82593741	82593741	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82593741C>T	uc003ych.2	-	2	182	c.55G>A	c.(55-57)GCT>ACT	p.A19T	IMPA1_uc011lfq.1_Missense_Mutation_p.A78T|IMPA1_uc011lfr.1_Missense_Mutation_p.A19T	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	19					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)													---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86121514	86121514	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86121514G>A	uc003ycz.3	+	6	790	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	E2F5_uc003yda.3_Silent_p.Q251Q|E2F5_uc010mab.2_Silent_p.Q90Q|E2F5_uc003ydb.3_Silent_p.Q70Q	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	251					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1																		---	---	---	---
C8orf59	401466	broad.mit.edu	37	8	86127243	86127243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86127243T>G	uc010mac.1	-	4	378	c.138A>C	c.(136-138)AAA>AAC	p.K46N	C8orf59_uc003ydd.2_Missense_Mutation_p.K46N|C8orf59_uc010mad.1_Missense_Mutation_p.K46N|C8orf59_uc003yde.2_Missense_Mutation_p.K46N|uc003ydc.1_RNA|C8orf59_uc011lfu.1_Intron	NM_001099670	NP_001093140	Q8N0T1	CH059_HUMAN	hypothetical protein LOC401466	46											0																		---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87230005	87230005	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87230005C>A	uc003ydq.1	-	3	971	c.873G>T	c.(871-873)ATG>ATT	p.M291I	SLC7A13_uc003ydr.1_Missense_Mutation_p.M282I	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	291	Helical; Name=8; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87437558	87437558	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87437558A>T	uc003ydt.2	+						WWP1_uc010mai.2_Intron	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87443720	87443720	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87443720G>T	uc003ydt.2	+	13	1752	c.1472_splice	c.e13+1	p.G491_splice	WWP1_uc010mai.2_Splice_Site_p.G267_splice	NM_007013	NP_008944			WW domain containing E3 ubiquitin protein ligase						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89081664	89081664	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89081664G>A	uc003yeb.3	-						MMP16_uc003yec.2_Missense_Mutation_p.P437S	NM_005941	NP_005932			matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89086947	89086947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89086947T>C	uc003yeb.3	-	7	1390	c.1108A>G	c.(1108-1110)AAC>GAC	p.N370D	MMP16_uc003yec.2_Missense_Mutation_p.N370D	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	370	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128833	89128833	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128833G>A	uc003yeb.3	-	6	1268	c.986C>T	c.(985-987)CCA>CTA	p.P329L	MMP16_uc003yec.2_Missense_Mutation_p.P329L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	329	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90802434	90802434	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90802434A>C	uc003yee.2	+	11	1727	c.1413A>C	c.(1411-1413)AAA>AAC	p.K471N	RIPK2_uc003yef.2_Missense_Mutation_p.K334N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	471	CARD.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)															---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92374603	92374603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92374603T>C	uc003yex.2	+	13	1615	c.1337T>C	c.(1336-1338)GTA>GCA	p.V446A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V446A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V446A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	446	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94745668	94745668	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94745668C>T	uc003yfz.2	-	3	3164	c.2971G>A	c.(2971-2973)GTT>ATT	p.V991I		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	991	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94747482	94747482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94747482A>G	uc003yfz.2	-	3	1350	c.1157T>C	c.(1156-1158)GTT>GCT	p.V386A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	386							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95782721	95782721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95782721G>A	uc003ygx.2	+	13	1500	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	459						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97172915	97172915	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97172915A>T	uc003yhp.2	-	1	106	c.6T>A	c.(4-6)GAT>GAA	p.D2E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	2					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)																	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98703401	98703401	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98703401A>G	uc003yhz.2	+	6	1361	c.1033A>G	c.(1033-1035)ATA>GTA	p.I345V	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	345	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)															---	---	---	---
MATN2	4147	broad.mit.edu	37	8	99039747	99039747	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99039747A>C	uc003yic.2	+	14	2277	c.2046A>C	c.(2044-2046)ATA>ATC	p.I682I	MATN2_uc010mbh.1_Silent_p.I641I|MATN2_uc003yid.2_Silent_p.I682I|MATN2_uc003yie.1_Silent_p.I682I|MATN2_uc010mbi.1_Silent_p.I515I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	682	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168275	99168275	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168275T>C	uc003yij.3	+						POP1_uc011lgv.1_Intron|POP1_uc003yik.2_Intron	NM_001145860	NP_001139332			processing of precursor 1						tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168483	99168483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168483C>T	uc003yij.3	+	15	2363	c.2263C>T	c.(2263-2265)CCA>TCA	p.P755S	POP1_uc011lgv.1_Missense_Mutation_p.P755S|POP1_uc003yik.2_Missense_Mutation_p.P755S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	755					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99248423	99248423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99248423A>G	uc003yil.1	-	4	652	c.396T>C	c.(394-396)GTT>GTC	p.V132V	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V132V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	132						integral to membrane					0																		---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440332	99440332	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99440332G>A	uc003yin.2	+	2	475	c.125G>A	c.(124-126)CGC>CAC	p.R42H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	42	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)															---	---	---	---
STK3	6788	broad.mit.edu	37	8	99468135	99468135	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99468135T>C	uc003yip.2	-	11	1552	c.1411A>G	c.(1411-1413)ACT>GCT	p.T471A	STK3_uc003yio.2_Missense_Mutation_p.T499A	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	471	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
STK3	6788	broad.mit.edu	37	8	99735183	99735183	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99735183A>T	uc003yip.2	-						STK3_uc003yio.2_Intron|STK3_uc010mbm.1_Intron	NM_006281	NP_006272			serine/threonine kinase 3						apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100050747	100050747	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100050747A>G	uc003yiv.2	+	3	355	c.244A>G	c.(244-246)ACC>GCC	p.T82A	VPS13B_uc003yiw.2_Missense_Mutation_p.T82A|VPS13B_uc003yit.2_Missense_Mutation_p.T82A|VPS13B_uc003yiu.1_Missense_Mutation_p.T82A|VPS13B_uc003yis.2_Missense_Mutation_p.T82A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	82					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100729416	100729416	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100729416T>A	uc003yiv.2	+	37	6658	c.6547T>A	c.(6547-6549)TCA>ACA	p.S2183T	VPS13B_uc003yiw.2_Missense_Mutation_p.S2158T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2183					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100977666	100977666	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100977666T>C	uc003yjb.1	-						RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Intron	NM_015668	NP_056483			regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101020754	101020754	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101020754A>G	uc003yjb.1	-	15	2405	c.2210T>C	c.(2209-2211)ATT>ACT	p.I737T	RGS22_uc003yja.1_Missense_Mutation_p.I556T|RGS22_uc003yjc.1_Missense_Mutation_p.I725T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	737					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101153423	101153423	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101153423A>G	uc003yjd.2	-	2	1772	c.1059T>C	c.(1057-1059)GGT>GGC	p.G353G	FBXO43_uc003yje.2_Silent_p.G319G|FBXO43_uc010mbp.1_Silent_p.G353G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	353					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101203638	101203638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101203638A>G	uc003yjh.1	+	9	939	c.853A>G	c.(853-855)ACA>GCA	p.T285A	SPAG1_uc003yjg.1_Missense_Mutation_p.T285A|SPAG1_uc003yji.1_Missense_Mutation_p.T285A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	285	TPR 3.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101237493	101237493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101237493C>A	uc003yjh.1	+	14	1867	c.1781C>A	c.(1780-1782)GCT>GAT	p.A594D	SPAG1_uc003yji.1_Missense_Mutation_p.A594D	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	594					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102589676	102589676	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102589676A>T	uc010mbu.2	+	7	1262	c.932A>T	c.(931-933)GAT>GTT	p.D311V		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	311						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)															---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103236354	103236354	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103236354T>C	uc003ykn.2	-	5	714	c.470A>G	c.(469-471)AAT>AGT	p.N157S	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N105S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	157					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)										Direct_reversal_of_damage|Modulation_of_nucleotide_pools					---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564230	103564230	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103564230G>T	uc003ykt.2	+	1	383	c.275G>T	c.(274-276)AGG>ATG	p.R92M		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	92					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---
ATP6V1C1	528	broad.mit.edu	37	8	104078589	104078589	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104078589C>T	uc003ykz.3	+	12	1212	c.967C>T	c.(967-969)CCC>TCC	p.P323S	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.P248S|ATP6V1C1_uc003yla.2_Missense_Mutation_p.P323S|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.P248S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	323					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337731	104337731	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337731A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104337736	104337736	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104337736A>G	uc003ylh.2	+						FZD6_uc003yli.2_Intron|FZD6_uc003ylj.2_Intron|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Intron	NM_003506	NP_003497			frizzled 6 isoform a precursor						angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452374	104452374	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452374C>G	uc003yln.2	+	9	1694	c.1417C>G	c.(1417-1419)CAT>GAT	p.H473D	DCAF13_uc003ylm.1_Missense_Mutation_p.H206D|DCAF13_uc003ylo.2_Missense_Mutation_p.H184D	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	321					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104452496	104452496	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104452496T>C	uc003yln.2	+	9	1816	c.1539T>C	c.(1537-1539)GGT>GGC	p.G513G	DCAF13_uc003ylm.1_Silent_p.G246G|DCAF13_uc003ylo.2_Silent_p.G224G	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	361	WD 7.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898191	104898191	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104898191G>A	uc003yls.2	+	2	939	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R455Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R263Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R263Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104955055	104955055	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104955055C>A	uc003yls.2	+	12	2177	c.1936C>A	c.(1936-1938)CTT>ATT	p.L646I	RIMS2_uc003ylp.2_Missense_Mutation_p.L868I|RIMS2_uc003ylw.2_Missense_Mutation_p.L660I|RIMS2_uc003ylq.2_Missense_Mutation_p.L660I|RIMS2_uc003ylr.2_Missense_Mutation_p.L707I|RIMS2_uc003ylt.2_Missense_Mutation_p.L253I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	930					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105360772	105360772	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105360772G>A	uc003ylx.1	+	2						NM_030788	NP_110415			dendritic cell-specific transmembrane protein						osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105361020	105361020	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105361020T>C	uc003ylx.1	+	2	289	c.240T>C	c.(238-240)TGT>TGC	p.C80C		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	80					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521172	105521172	+	Silent	SNP	A	G	G	rs146591291		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521172A>G	uc003yma.2	-	3	362	c.267T>C	c.(265-267)ACT>ACC	p.T89T	LRP12_uc003ymb.2_Silent_p.T70T|LRP12_uc003ymc.3_Silent_p.T70T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	89	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105521252	105521252	+	Missense_Mutation	SNP	T	G	G	rs113326704		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105521252T>G	uc003yma.2	-	3	282	c.187A>C	c.(187-189)AGC>CGC	p.S63R	LRP12_uc003ymb.2_Missense_Mutation_p.S44R|LRP12_uc003ymc.3_Missense_Mutation_p.S44R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	63	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796640	109796640	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796640G>A	uc003ymy.1	-	2	793	c.688C>T	c.(688-690)CGC>TGC	p.R230C	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796927	109796927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109796927T>C	uc003ymy.1	-	2	506	c.401A>G	c.(400-402)AAT>AGT	p.N134S	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	134					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)															---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110351554	110351554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110351554A>G	uc003ynd.2	+	3	151	c.89A>G	c.(88-90)AAA>AGA	p.K30R	ENY2_uc003ync.2_Missense_Mutation_p.K25R	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	30					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110471910	110471910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110471910A>G	uc003yne.2	+	47	7195	c.7091A>G	c.(7090-7092)TAC>TGC	p.Y2364C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2364	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110535613	110535613	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110535613C>T	uc003yne.2	+	76	12586	c.12482C>T	c.(12481-12483)ACA>ATA	p.T4161I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4161	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110575641	110575641	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110575641A>T	uc003ynf.2	+						EBAG9_uc003yng.2_Intron	NM_198120	NP_936056			estrogen receptor binding site associated						apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)															---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110587443	110587443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110587443C>T	uc003ynj.3	-	7	1847	c.1684G>A	c.(1684-1686)GCC>ACC	p.A562T	SYBU_uc003yni.3_Missense_Mutation_p.A559T|SYBU_uc003ynk.3_Missense_Mutation_p.A443T|SYBU_uc010mco.2_Missense_Mutation_p.A561T|SYBU_uc003ynl.3_Missense_Mutation_p.A561T|SYBU_uc010mcp.2_Missense_Mutation_p.A562T|SYBU_uc010mcq.2_Missense_Mutation_p.A562T|SYBU_uc003yno.3_Missense_Mutation_p.A443T|SYBU_uc010mcr.2_Missense_Mutation_p.A562T|SYBU_uc003ynm.3_Missense_Mutation_p.A561T|SYBU_uc003ynn.3_Missense_Mutation_p.A561T|SYBU_uc010mcs.2_Missense_Mutation_p.A443T|SYBU_uc010mct.2_Missense_Mutation_p.A562T|SYBU_uc010mcu.2_Missense_Mutation_p.A561T|SYBU_uc003ynp.3_Missense_Mutation_p.A494T|SYBU_uc010mcv.2_Missense_Mutation_p.A562T|SYBU_uc003ynh.3_Missense_Mutation_p.A356T|SYBU_uc011lhw.1_Missense_Mutation_p.A432T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	562						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588041	110588041	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588041T>C	uc003ynj.3	-	7	1249	c.1086A>G	c.(1084-1086)ATA>ATG	p.I362M	SYBU_uc003yni.3_Missense_Mutation_p.I359M|SYBU_uc003ynk.3_Missense_Mutation_p.I243M|SYBU_uc010mco.2_Missense_Mutation_p.I361M|SYBU_uc003ynl.3_Missense_Mutation_p.I361M|SYBU_uc010mcp.2_Missense_Mutation_p.I362M|SYBU_uc010mcq.2_Missense_Mutation_p.I362M|SYBU_uc003yno.3_Missense_Mutation_p.I243M|SYBU_uc010mcr.2_Missense_Mutation_p.I362M|SYBU_uc003ynm.3_Missense_Mutation_p.I361M|SYBU_uc003ynn.3_Missense_Mutation_p.I361M|SYBU_uc010mcs.2_Missense_Mutation_p.I243M|SYBU_uc010mct.2_Missense_Mutation_p.I362M|SYBU_uc010mcu.2_Missense_Mutation_p.I361M|SYBU_uc003ynp.3_Missense_Mutation_p.I294M|SYBU_uc010mcv.2_Missense_Mutation_p.I362M|SYBU_uc003ynh.3_Missense_Mutation_p.I156M|SYBU_uc011lhw.1_Missense_Mutation_p.I232M	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	362	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588192	110588192	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588192T>A	uc003ynj.3	-	7	1098	c.935A>T	c.(934-936)GAC>GTC	p.D312V	SYBU_uc003yni.3_Missense_Mutation_p.D309V|SYBU_uc003ynk.3_Missense_Mutation_p.D193V|SYBU_uc010mco.2_Missense_Mutation_p.D311V|SYBU_uc003ynl.3_Missense_Mutation_p.D311V|SYBU_uc010mcp.2_Missense_Mutation_p.D312V|SYBU_uc010mcq.2_Missense_Mutation_p.D312V|SYBU_uc003yno.3_Missense_Mutation_p.D193V|SYBU_uc010mcr.2_Missense_Mutation_p.D312V|SYBU_uc003ynm.3_Missense_Mutation_p.D311V|SYBU_uc003ynn.3_Missense_Mutation_p.D311V|SYBU_uc010mcs.2_Missense_Mutation_p.D193V|SYBU_uc010mct.2_Missense_Mutation_p.D312V|SYBU_uc010mcu.2_Missense_Mutation_p.D311V|SYBU_uc003ynp.3_Missense_Mutation_p.D244V|SYBU_uc010mcv.2_Missense_Mutation_p.D312V|SYBU_uc003ynh.3_Missense_Mutation_p.D106V|SYBU_uc011lhw.1_Missense_Mutation_p.D182V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	312	Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110984530	110984530	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110984530C>T	uc003ynr.3	-	2	1290	c.948G>A	c.(946-948)CTG>CTA	p.L316L	KCNV1_uc010mcw.2_Silent_p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241000	113241000	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113241000T>G	uc003ynu.2	-	70	11108	c.10949A>C	c.(10948-10950)TAT>TCT	p.Y3650S	CSMD3_uc003yns.2_Missense_Mutation_p.Y2852S|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3610S|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3481S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3650	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256732	113256732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256732C>T	uc003ynu.2	-	65	10452	c.10293G>A	c.(10291-10293)GGG>GGA	p.G3431G	CSMD3_uc003yns.2_Silent_p.G2633G|CSMD3_uc003ynt.2_Silent_p.G3391G|CSMD3_uc011lhx.1_Silent_p.G3262G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3431	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308208	113308208	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113308208A>T	uc003ynu.2	-	54	8627	c.8468T>A	c.(8467-8469)ATT>AAT	p.I2823N	CSMD3_uc003yns.2_Missense_Mutation_p.I2025N|CSMD3_uc003ynt.2_Missense_Mutation_p.I2783N|CSMD3_uc011lhx.1_Missense_Mutation_p.I2654N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2823	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353786	113353786	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113353786A>G	uc003ynu.2	-	42	6731	c.6572T>C	c.(6571-6573)TTC>TCC	p.F2191S	CSMD3_uc003yns.2_Missense_Mutation_p.F1393S|CSMD3_uc003ynt.2_Missense_Mutation_p.F2151S|CSMD3_uc011lhx.1_Missense_Mutation_p.F2087S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2191	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426319	116426319	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116426319T>C	uc003ynz.2	-	6	4237	c.3778A>G	c.(3778-3780)ACA>GCA	p.T1260A	TRPS1_uc011lhy.1_Missense_Mutation_p.T1264A|TRPS1_uc003yny.2_Missense_Mutation_p.T1273A|TRPS1_uc010mcy.2_Missense_Mutation_p.T1260A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1260	C2H2-type 7.|Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599390	116599390	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116599390C>T	uc003ynz.2	-	4	2958	c.2499G>A	c.(2497-2499)GTG>GTA	p.V833V	TRPS1_uc011lhy.1_Silent_p.V837V|TRPS1_uc003yny.2_Silent_p.V846V|TRPS1_uc010mcy.2_Silent_p.V833V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	833					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631923	116631923	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116631923G>A	uc003ynz.2	-	2	822	c.363C>T	c.(361-363)GTC>GTT	p.V121V	TRPS1_uc011lhy.1_Silent_p.V125V|TRPS1_uc003yny.2_Silent_p.V134V|TRPS1_uc010mcy.2_Silent_p.V121V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	121					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117658772	117658772	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117658772T>A	uc003yoa.2	-	7	925	c.899A>T	c.(898-900)GAC>GTC	p.D300V	EIF3H_uc003yob.2_Missense_Mutation_p.D314V	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	300					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)																	---	---	---	---
C8orf85	441376	broad.mit.edu	37	8	117950578	117950578	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117950578C>T	uc003yof.2	+	1	115	c.96C>T	c.(94-96)CCC>CCT	p.P32P		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	32											0																		---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118812147	118812147	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118812147G>T	uc003yok.1	-							NM_000127	NP_000118			exostosin 1						glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)					Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119209944	119209944	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119209944C>T	uc010mda.1	-	5					SAMD12_uc010mdb.1_RNA	NM_001101676	NP_001095146			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119634031	119634031	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119634031A>C	uc003yom.2	-						SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389			sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)															---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431371	120431371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431371C>T	uc003yoq.2	+	4	784	c.563C>T	c.(562-564)GCT>GTT	p.A188V		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	188					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431495	120431495	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431495C>T	uc003yoq.2	+	4	908	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	229	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOV	4856	broad.mit.edu	37	8	120435193	120435193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120435193C>T	uc003yoq.2	+	5	1116	c.895C>T	c.(895-897)CGC>TGC	p.R299C		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	299	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120809250	120809250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120809250A>G	uc003you.2	-	8	1341	c.1071T>C	c.(1069-1071)TGT>TGC	p.C357C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	357					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120847196	120847196	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120847196T>A	uc003yov.2	-	9	1254	c.1119A>T	c.(1117-1119)AAA>AAT	p.K373N	TAF2_uc003you.2_5'Flank	NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	373					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120862613	120862613	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120862613A>T	uc003yov.2	-							NM_024094	NP_076999			defective in sister chromatid cohesion 1						DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121528287	121528287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121528287T>C	uc003ypc.1	+	18	2147	c.2102T>C	c.(2101-2103)GTG>GCG	p.V701A		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	701	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121587442	121587442	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121587442C>T	uc010mdg.2	-	4	1246	c.1020G>A	c.(1018-1020)CAG>CAA	p.Q340Q	SNTB1_uc003ype.2_Silent_p.Q340Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641366	122641366	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122641366T>C	uc003yph.2	-	2	753	c.215A>G	c.(214-216)AAA>AGA	p.K72R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	72	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
WDR67	93594	broad.mit.edu	37	8	124153051	124153051	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124153051A>G	uc003ypp.1	+	18	2640	c.2550A>G	c.(2548-2550)GCA>GCG	p.A850A	WDR67_uc011lig.1_Silent_p.A819A|WDR67_uc011lih.1_Silent_p.A740A|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.A484A|WDR67_uc003ypt.1_Silent_p.A307A|WDR67_uc003ypu.1_Silent_p.A307A	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	850	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664667	124664667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124664667G>A	uc003yqs.1	-	1	524	c.500C>T	c.(499-501)GCC>GTC	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	167	BACK.										0																		---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124787521	124787521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124787521T>C	uc003yqv.2	+	3	353	c.292T>C	c.(292-294)TAT>CAT	p.Y98H	FAM91A1_uc011lik.1_Missense_Mutation_p.Y98H|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	98										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124799566	124799566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124799566T>C	uc003yqv.2	+	13	1205	c.1144T>C	c.(1144-1146)TTT>CTT	p.F382L	FAM91A1_uc011lik.1_Missense_Mutation_p.F382L|FAM91A1_uc011lil.1_Missense_Mutation_p.F140L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	382										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992848	124992848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124992848G>A	uc003yqw.2	+	11	1413	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	403	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)													OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125057997	125057997	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125057997C>A	uc003yqw.2	+							NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125094706	125094706	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125094706T>C	uc003yqw.2	+						uc003yqy.1_Intron	NM_001039112	NP_001034201			fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
RNF139	11236	broad.mit.edu	37	8	125498225	125498225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125498225C>T	uc003yrc.2	+	2	678	c.335C>T	c.(334-336)TCA>TTA	p.S112L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	112					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)											Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125565432	125565432	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125565432A>T	uc003yrk.2	-	14	2603	c.2069T>A	c.(2068-2070)ATT>AAT	p.I690N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.I339N|MTSS1_uc011lin.1_Missense_Mutation_p.I464N|MTSS1_uc011lio.1_Missense_Mutation_p.I580N|MTSS1_uc003yri.2_Missense_Mutation_p.I408N|MTSS1_uc003yrj.2_Missense_Mutation_p.I665N|MTSS1_uc003yrl.2_Missense_Mutation_p.I694N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	690	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126021568	126021568	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126021568T>A	uc011liq.1	+	6	2017	c.1091T>A	c.(1090-1092)ATT>AAT	p.I364N		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	364					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)													---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126088714	126088714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126088714C>T	uc003yrt.2	-	7	1069	c.740G>A	c.(739-741)CGC>CAC	p.R247H	KIAA0196_uc011lir.1_Missense_Mutation_p.R99H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	247					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)															---	---	---	---
FAM84B	157638	broad.mit.edu	37	8	127569528	127569528	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:127569528T>C	uc003yrz.1	-	2	391	c.107A>G	c.(106-108)TAC>TGC	p.Y36C		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	36						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)															---	---	---	---
GSDMC	56169	broad.mit.edu	37	8	130789814	130789814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130789814C>T	uc003ysr.2	-	2	902	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	7						mitochondrion				ovary(2)|skin(1)	3																		---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130866573	130866573	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130866573A>G	uc003yss.2	-	10	1004	c.455T>C	c.(454-456)ATA>ACA	p.I152T	FAM49B_uc003yst.2_Missense_Mutation_p.I152T|FAM49B_uc003ysu.2_Missense_Mutation_p.I152T|FAM49B_uc003ysv.2_Missense_Mutation_p.I6T|FAM49B_uc003ysw.2_Missense_Mutation_p.I152T|FAM49B_uc003ysx.2_Missense_Mutation_p.I152T|FAM49B_uc003ysy.1_Missense_Mutation_p.I152T	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	152											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)															---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131172154	131172154	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131172154T>C	uc003yta.1	-	11	994	c.966A>G	c.(964-966)GAA>GAG	p.E322E	ASAP1_uc003ysz.1_Silent_p.E133E|ASAP1_uc011liw.1_Silent_p.E315E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	322					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4																		---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131896899	131896899	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131896899T>A	uc003ytd.3	-	8	2276	c.2020A>T	c.(2020-2022)ACC>TCC	p.T674S	ADCY8_uc010mds.2_Missense_Mutation_p.T674S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	674	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131916273	131916273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131916273G>A	uc003ytd.3	-	7	1912	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	ADCY8_uc010mds.2_Silent_p.S552S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	552	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036882	133036882	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133036882T>C	uc003ytg.2	-	13	1280	c.1280A>G	c.(1279-1281)GAC>GGC	p.D427G	OC90_uc011lix.1_Missense_Mutation_p.D427G	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	443					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
OC90	729330	broad.mit.edu	37	8	133041316	133041316	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133041316T>C	uc003ytg.2	-						OC90_uc011lix.1_Intron	NM_001080399	NP_001073868			otoconin 90						lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133196541	133196541	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133196541T>C	uc003ytj.2	-	3	776	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	KCNQ3_uc010mdt.2_Missense_Mutation_p.Y184C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	184					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133492463	133492463	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133492463C>T	uc003ytj.2	-	1	542	c.317G>A	c.(316-318)CGC>CAC	p.R106H	KCNQ3_uc010mdt.2_Missense_Mutation_p.R106H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	106					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133645002	133645002	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133645002C>T	uc003ytk.2	-	5	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	213						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133816054	133816054	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133816054T>C	uc003ytt.2	+						PHF20L1_uc003ytr.2_Intron|PHF20L1_uc010mdv.2_Intron|PHF20L1_uc003yts.2_Intron|PHF20L1_uc011lja.1_Intron|PHF20L1_uc003ytu.1_Intron|PHF20L1_uc003ytv.2_Silent_p.F5F	NM_016018	NP_057102			PHD finger protein 20-like 1 isoform 1								nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133837511	133837511	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133837511A>G	uc003ytt.2	+	14	1964	c.1639A>G	c.(1639-1641)AAG>GAG	p.K547E	PHF20L1_uc003yts.2_3'UTR|PHF20L1_uc011lja.1_Missense_Mutation_p.K521E|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	547	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	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)															---	---	---	---
TG	7038	broad.mit.edu	37	8	133895214	133895214	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133895214A>G	uc003ytw.2	+	8	1086	c.1045A>G	c.(1045-1047)ACC>GCC	p.T349A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	349	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133975325	133975325	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133975325G>A	uc003ytw.2	+						TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_5'Flank|TG_uc010mdx.1_Intron	NM_003235	NP_003226			thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	133984908	133984908	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133984908G>T	uc003ytw.2	+	34	6162	c.6121G>T	c.(6121-6123)GGA>TGA	p.G2041*	TG_uc010mdw.2_Nonsense_Mutation_p.G800*|TG_uc011ljb.1_Nonsense_Mutation_p.G410*|TG_uc011ljc.1_Nonsense_Mutation_p.G195*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2041	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
SLA	6503	broad.mit.edu	37	8	134062229	134062229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134062229C>T	uc003ytz.2	-	5	998	c.166G>A	c.(166-168)GGG>AGG	p.G56R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G73R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G73R|SLA_uc010mdy.1_Missense_Mutation_p.G56R|SLA_uc010mdz.1_Missense_Mutation_p.G56R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.G96R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	56	SH3.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)															---	---	---	---
TG	7038	broad.mit.edu	37	8	134108554	134108554	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134108554G>T	uc003ytw.2	+	43	7550	c.7509G>T	c.(7507-7509)GAG>GAT	p.E2503D	TG_uc010mdw.2_Missense_Mutation_p.E1262D|TG_uc011ljb.1_Missense_Mutation_p.E872D|TG_uc011ljc.1_Missense_Mutation_p.E636D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2503					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
TG	7038	broad.mit.edu	37	8	134145772	134145772	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134145772C>T	uc003ytw.2	+	47	8097	c.8056C>T	c.(8056-8058)CCT>TCT	p.P2686S	TG_uc010mdw.2_Missense_Mutation_p.P1445S|TG_uc011ljb.1_Missense_Mutation_p.P1055S|TG_uc011ljc.1_Missense_Mutation_p.P819S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2686					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134276877	134276877	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134276877A>C	uc003yuh.2	-	4	704	c.118T>G	c.(118-120)TTA>GTA	p.L40V	NDRG1_uc003yug.2_Missense_Mutation_p.L40V|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	40					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164378	139164378	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139164378C>A	uc003yuy.2	-	13	2511	c.2340G>T	c.(2338-2340)GAG>GAT	p.E780D	FAM135B_uc003yux.2_Missense_Mutation_p.E681D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E342D|FAM135B_uc003yvb.2_Missense_Mutation_p.E342D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	780										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180136	139180136	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139180136A>C	uc003yuy.2	-	12	1429	c.1258_splice	c.e12+1	p.G420_splice	FAM135B_uc003yux.2_Splice_Site_p.G321_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996			hypothetical protein LOC51059											ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139278000	139278000	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139278000T>C	uc003yuy.2	-	4	414	c.243A>G	c.(241-243)GTA>GTG	p.V81V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	81										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139629147	139629147	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139629147G>A	uc003yvd.2	-						COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848			collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)												HNSCC(7;0.00092)			---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140715061	140715061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:140715061A>G	uc003yvf.1	-	1	239	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	KCNK9_uc003yvg.1_Missense_Mutation_p.Y59H	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	59	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)															---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141297761	141297761	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141297761A>G	uc003yvj.2	-	13	2061	c.1927T>C	c.(1927-1929)TAC>CAC	p.Y643H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y741H|TRAPPC9_uc010mel.1_Missense_Mutation_p.Y64H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y634H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	643					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141301164	141301164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141301164A>G	uc003yvj.2	-	12	1916	c.1782T>C	c.(1780-1782)GTT>GTC	p.V594V	TRAPPC9_uc003yvh.2_Silent_p.V692V|TRAPPC9_uc010mel.1_Silent_p.V15V|TRAPPC9_uc003yvi.1_Silent_p.V585V	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	594					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141449272	141449272	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141449272G>A	uc003yvj.2	-	3	743	c.609C>T	c.(607-609)GGC>GGT	p.G203G	TRAPPC9_uc003yvh.2_Silent_p.G301G|TRAPPC9_uc003yvi.1_Silent_p.G203G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	203					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141542676	141542676	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141542676G>A	uc003yvn.2	-	18	2350	c.2310C>T	c.(2308-2310)GAC>GAT	p.D770D	EIF2C2_uc010men.2_Silent_p.D693D|EIF2C2_uc010meo.2_Silent_p.D736D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	770	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141551423	141551423	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141551423T>C	uc003yvn.2	-	15	1914	c.1874A>G	c.(1873-1875)TAC>TGC	p.Y625C	EIF2C2_uc010men.2_Missense_Mutation_p.Y548C|EIF2C2_uc010meo.2_Missense_Mutation_p.Y625C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	625	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141559224	141559224	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141559224G>A	uc003yvn.2	-	12	1617	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M	EIF2C2_uc010men.2_Missense_Mutation_p.T449M|EIF2C2_uc010meo.2_Missense_Mutation_p.T526M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	526	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141745491	141745491	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141745491T>C	uc003yvu.2	-	22	2119	c.1889A>G	c.(1888-1890)GAT>GGT	p.D630G	PTK2_uc003yvo.2_Missense_Mutation_p.D258G|PTK2_uc011ljq.1_Missense_Mutation_p.D325G|PTK2_uc003yvp.2_Missense_Mutation_p.D298G|PTK2_uc003yvq.2_Missense_Mutation_p.D156G|PTK2_uc003yvr.2_Missense_Mutation_p.D570G|PTK2_uc003yvs.2_Missense_Mutation_p.D630G|PTK2_uc003yvt.2_Missense_Mutation_p.D652G|PTK2_uc003yvv.2_Missense_Mutation_p.D530G|PTK2_uc011ljr.1_Missense_Mutation_p.D630G|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	630	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141754863	141754863	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141754863T>C	uc003yvu.2	-	19	1752	c.1522A>G	c.(1522-1524)AGG>GGG	p.R508G	PTK2_uc003yvo.2_Missense_Mutation_p.R136G|PTK2_uc011ljq.1_Missense_Mutation_p.R203G|PTK2_uc003yvp.2_Missense_Mutation_p.R176G|PTK2_uc003yvq.2_Missense_Mutation_p.R34G|PTK2_uc003yvr.2_Missense_Mutation_p.R448G|PTK2_uc003yvs.2_Missense_Mutation_p.R508G|PTK2_uc003yvt.2_Missense_Mutation_p.R530G|PTK2_uc003yvv.2_Missense_Mutation_p.R408G|PTK2_uc011ljr.1_Missense_Mutation_p.R508G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	508	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141889685	141889685	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141889685A>G	uc003yvu.2	-	4	477	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.Y83H|PTK2_uc003yvt.2_Missense_Mutation_p.Y105H|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.Y83H	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	83	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178176	142178176	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142178176C>T	uc003yvy.2	+	13	1865	c.1587C>T	c.(1585-1587)TGC>TGT	p.C529C	DENND3_uc010mep.2_Silent_p.C490C|DENND3_uc003yvz.1_Silent_p.C213C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	529										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142231844	142231844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142231844T>C	uc003ywd.1	-	2	417	c.109A>G	c.(109-111)AGC>GGC	p.S37G	SLC45A4_uc003ywc.1_Missense_Mutation_p.S37G|SLC45A4_uc010meq.1_Missense_Mutation_p.S35G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	88	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---
BAI1	575	broad.mit.edu	37	8	143623370	143623370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143623370C>T	uc003ywm.2	+	27	3958	c.3775C>T	c.(3775-3777)CCC>TCC	p.P1259S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1259	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ARC	23237	broad.mit.edu	37	8	143694743	143694743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143694743G>A	uc003ywn.1	-	1	1091	c.890C>T	c.(889-891)CCG>CTG	p.P297L		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	297					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)																---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961155	143961155	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143961155G>A	uc003yxi.2	-	1	82	c.75C>T	c.(73-75)GGC>GGT	p.G25G	CYP11B1_uc003yxj.2_Silent_p.G25G|CYP11B1_uc010mey.2_Silent_p.G25G	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									Familial_Hyperaldosteronism_type_I				---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143994781G>A	uc003yxk.1	-	6	1044	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									Familial_Hyperaldosteronism_type_I				---	---	---	---
ZFP41	286128	broad.mit.edu	37	8	144332621	144332621	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144332621T>C	uc003yxw.2	+	2					ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193			zinc finger protein 41 homolog						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378517	144378517	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378517C>T	uc003yxy.3	+	3	1081	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	224	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144413431	144413431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144413431G>A	uc003yxz.2	-	2	220	c.201C>T	c.(199-201)TAC>TAT	p.Y67Y	TOP1MT_uc011lkd.1_Translation_Start_Site|TOP1MT_uc011lke.1_Translation_Start_Site|TOP1MT_uc010mfb.2_Translation_Start_Site|TOP1MT_uc010mfd.1_Translation_Start_Site	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	67					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)													---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620360	144620360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144620360G>A	uc003yyd.2	-	2	1206	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	393					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)															---	---	---	---
TSTA3	7264	broad.mit.edu	37	8	144696501	144696501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144696501T>C	uc003yza.2	-	6	623	c.587A>G	c.(586-588)CAC>CGC	p.H196R	TSTA3_uc003yzb.2_Missense_Mutation_p.H196R	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	196					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)													---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874878	144874878	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144874878C>T	uc003yzp.1	-	30	4184	c.4177G>A	c.(4177-4179)GCC>ACC	p.A1393T	SCRIB_uc003yzn.1_Missense_Mutation_p.G102S|SCRIB_uc003yzo.1_Missense_Mutation_p.A1393T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1393	Potential.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144877663	144877663	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144877663C>T	uc003yzp.1	-	25	3648	c.3641G>A	c.(3640-3642)GGC>GAC	p.G1214D	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.G1214D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1214	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144898884	144898884	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144898884C>T	uc003yzs.2	-	12	1550	c.1486G>A	c.(1486-1488)GTC>ATC	p.V496I	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.V436I|PUF60_uc003yzt.2_Missense_Mutation_p.V479I|PUF60_uc003yzq.2_Missense_Mutation_p.V453I	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	496	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144899832	144899832	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144899832G>A	uc003yzs.2	-	9	1002	c.938C>T	c.(937-939)GCC>GTC	p.A313V	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A253V|PUF60_uc003yzt.2_Missense_Mutation_p.A296V|PUF60_uc003yzq.2_Missense_Mutation_p.A270V|PUF60_uc003yzu.1_Missense_Mutation_p.A302V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	313	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144900179	144900179	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144900179C>T	uc003yzs.2	-	8	734	c.670G>A	c.(670-672)GCC>ACC	p.A224T	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.A164T|PUF60_uc003yzt.2_Missense_Mutation_p.A207T|PUF60_uc003yzq.2_Missense_Mutation_p.A181T|PUF60_uc003yzu.1_Missense_Mutation_p.A213T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	224	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144902883	144902883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144902883C>T	uc003yzs.2	-	5	365	c.301G>A	c.(301-303)GCA>ACA	p.A101T	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.A58T|PUF60_uc003yzu.1_Missense_Mutation_p.A90T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
NRBP2	340371	broad.mit.edu	37	8	144920921	144920921	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144920921A>G	uc011lkt.1	-	10	911	c.771T>C	c.(769-771)AAT>AAC	p.N257N	NRBP2_uc003yzv.2_Silent_p.N14N|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.N14N|NRBP2_uc011lks.1_Silent_p.N14N|NRBP2_uc003yzy.2_Silent_p.N14N	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	257	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940304	144940304	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144940304T>C	uc003zaa.1	-	2	15141	c.15128A>G	c.(15127-15129)AAC>AGC	p.N5043S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5043	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144942445	144942445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144942445C>T	uc003zaa.1	-	1	4990	c.4977G>A	c.(4975-4977)CAG>CAA	p.Q1659Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1659	Plectin 28.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991141	144991141	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991141A>G	uc003zaf.1	-	32	13429	c.13259T>C	c.(13258-13260)ATC>ACC	p.I4420T	PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4420	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991345	144991345	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144991345T>C	uc003zaf.1	-	32	13225	c.13055A>G	c.(13054-13056)GAC>GGC	p.D4352G	PLEC_uc003zab.1_Missense_Mutation_p.D4215G|PLEC_uc003zac.1_Missense_Mutation_p.D4219G|PLEC_uc003zad.2_Missense_Mutation_p.D4215G|PLEC_uc003zae.1_Missense_Mutation_p.D4183G|PLEC_uc003zag.1_Missense_Mutation_p.D4193G|PLEC_uc003zah.2_Missense_Mutation_p.D4201G|PLEC_uc003zaj.2_Missense_Mutation_p.D4242G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4352	Globular 2.|Plectin 28.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993077	144993077	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993077C>T	uc003zaf.1	-	32	11493	c.11323G>A	c.(11323-11325)GCC>ACC	p.A3775T	PLEC_uc003zab.1_Missense_Mutation_p.A3638T|PLEC_uc003zac.1_Missense_Mutation_p.A3642T|PLEC_uc003zad.2_Missense_Mutation_p.A3638T|PLEC_uc003zae.1_Missense_Mutation_p.A3606T|PLEC_uc003zag.1_Missense_Mutation_p.A3616T|PLEC_uc003zah.2_Missense_Mutation_p.A3624T|PLEC_uc003zaj.2_Missense_Mutation_p.A3665T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3775	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993131	144993131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993131T>C	uc003zaf.1	-	32	11439	c.11269A>G	c.(11269-11271)ATC>GTC	p.I3757V	PLEC_uc003zab.1_Missense_Mutation_p.I3620V|PLEC_uc003zac.1_Missense_Mutation_p.I3624V|PLEC_uc003zad.2_Missense_Mutation_p.I3620V|PLEC_uc003zae.1_Missense_Mutation_p.I3588V|PLEC_uc003zag.1_Missense_Mutation_p.I3598V|PLEC_uc003zah.2_Missense_Mutation_p.I3606V|PLEC_uc003zaj.2_Missense_Mutation_p.I3647V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3757	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996247	144996247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144996247C>T	uc003zaf.1	-	32	8323	c.8153G>A	c.(8152-8154)CGG>CAG	p.R2718Q	PLEC_uc003zab.1_Missense_Mutation_p.R2581Q|PLEC_uc003zac.1_Missense_Mutation_p.R2585Q|PLEC_uc003zad.2_Missense_Mutation_p.R2581Q|PLEC_uc003zae.1_Missense_Mutation_p.R2549Q|PLEC_uc003zag.1_Missense_Mutation_p.R2559Q|PLEC_uc003zah.2_Missense_Mutation_p.R2567Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2608Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2718	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000981	145000981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145000981C>A	uc003zaf.1	-	30	4596	c.4426G>T	c.(4426-4428)GAG>TAG	p.E1476*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1339*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1343*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1339*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1307*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1317*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1325*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1366*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1476	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006562	145006562	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145006562G>A	uc003zaf.1	-						PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782			plectin isoform 1						cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145059959	145059959	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145059959A>C	uc003zal.3	-	3	474	c.366T>G	c.(364-366)CCT>CCG	p.P122P	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.P134P|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.P122P|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Missense_Mutation_p.L15R	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	122						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145140934	145140934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145140934A>G	uc003zax.2	+	12	1882	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	591	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
SHARPIN	81858	broad.mit.edu	37	8	145154002	145154002	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145154002G>A	uc003zba.2	-	7	1513	c.1029C>T	c.(1027-1029)AGC>AGT	p.S343S	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	343					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537516	145537516	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145537516G>A	uc003zbt.3	+	11	1426	c.1256G>A	c.(1255-1257)AGC>AAC	p.S419N	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	419	Transactivation domain.|9aaTAD.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)															---	---	---	---
DGAT1	8694	broad.mit.edu	37	8	145542209	145542209	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145542209C>T	uc003zbv.3	-	6	757	c.489G>A	c.(487-489)GCG>GCA	p.A163A	DGAT1_uc010mfv.2_Silent_p.A163A	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	163	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
SCRT1	83482	broad.mit.edu	37	8	145557088	145557088	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145557088G>A	uc003zbw.1	-	2	918	c.806C>T	c.(805-807)TCG>TTG	p.S269L		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	269	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
GPR172A	79581	broad.mit.edu	37	8	145582977	145582977	+	Silent	SNP	T	C	C	rs146942171		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145582977T>C	uc003zcc.1	+	2	181	c.24T>C	c.(22-24)CGT>CGC	p.R8R	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_Intron|GPR172A_uc003zcd.1_Silent_p.R8R|GPR172A_uc003zce.1_Silent_p.R8R|GPR172A_uc010mfy.1_Silent_p.R8R|GPR172A_uc003zcf.1_Silent_p.R8R|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	8						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)															---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145620666	145620666	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145620666T>C	uc003zcj.2	-	27	3155	c.3080A>G	c.(3079-3081)TAC>TGC	p.Y1027C	MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1027					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145641443	145641443	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145641443G>A	uc003zcq.2	-	2	325	c.225C>T	c.(223-225)GGC>GGT	p.G75G	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.G50G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145661146	145661146	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145661146T>C	uc011llg.1	-	17	2685	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	890					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145664103	145664103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145664103C>T	uc011llg.1	-	12	1511	c.1496G>A	c.(1495-1497)GGC>GAC	p.G499D	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	499	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
NFKBIL2	4796	broad.mit.edu	37	8	145665767	145665767	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145665767G>A	uc011llg.1	-	10	1272	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	419					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145735993	145735993	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145735993T>C	uc003zdi.1	+	3	1008	c.843T>C	c.(841-843)CCT>CCC	p.P281P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	281	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145745995	145745995	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145745995C>T	uc003zdk.1	+	3	849	c.703C>T	c.(703-705)CGC>TGC	p.R235C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R235C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	235											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
MGC70857	414919	broad.mit.edu	37	8	145753403	145753403	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145753403A>G	uc003zdp.1	-						LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_Intron	NM_001001795	NP_001001795			hypothetical protein LOC414919												0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)															---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947422	145947422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145947422C>T	uc003zdv.3	-	5	1879	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)														---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	146003824	146003824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146003824C>A	uc003zdy.3	-	3	198	c.96G>T	c.(94-96)CAG>CAT	p.Q32H	ZNF34_uc010mgb.2_Translation_Start_Site|ZNF34_uc003zdx.3_Missense_Mutation_p.Q11H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146016676	146016676	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146016676T>C	uc003zeb.2	-	4	596	c.485A>G	c.(484-486)AAC>AGC	p.N162S	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N126S|RPL8_uc003zec.2_Missense_Mutation_p.N162S|RPL8_uc010mgc.2_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146017173	146017173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146017173A>G	uc003zeb.2	-	3	376	c.265T>C	c.(265-267)TAT>CAT	p.Y89H	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.Y53H|RPL8_uc003zec.2_Missense_Mutation_p.Y89H|RPL8_uc010mgc.2_Missense_Mutation_p.Y89H	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117366	117366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117366C>T	uc003zfz.2	-	1	1052	c.754G>A	c.(754-756)GGG>AGG	p.G252R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:164038C>G	uc003zga.3	-	5	537	c.431_splice	c.e5-1	p.G144_splice	CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	NM_018491	NP_060961			COBW domain containing 1 isoform 1								ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)														---	---	---	---
KANK1	23189	broad.mit.edu	37	9	710960	710960	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:710960A>C	uc003zgl.1	+	7	843	c.194A>C	c.(193-195)AAG>ACG	p.K65T	KANK1_uc003zgm.2_Missense_Mutation_p.K65T|KANK1_uc003zgn.1_Missense_Mutation_p.K65T|KANK1_uc003zgo.1_Missense_Mutation_p.K65T|KANK1_uc003zgp.1_Missense_Mutation_p.K65T|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	65					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	977247	977247	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:977247C>T	uc003zgw.1	+	1	284	c.246C>T	c.(244-246)AGC>AGT	p.S82S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990339	990339	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:990339G>A	uc003zgw.1	+	2	791	c.753G>A	c.(751-753)CCG>CCA	p.P251P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	251					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1057243	1057243	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:1057243T>C	uc003zha.2	+	4	1856	c.1656T>C	c.(1654-1656)CCT>CCC	p.P552P	DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039604	2039604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039604G>A	uc003zhc.2	+	4	593	c.494G>A	c.(493-495)AGC>AAC	p.S165N	SMARCA2_uc003zhd.2_Missense_Mutation_p.S165N|SMARCA2_uc010mha.2_Missense_Mutation_p.S156N	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	165					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039854	2039854	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2039854G>A	uc003zhc.2	+	4	843	c.744G>A	c.(742-744)ACG>ACA	p.T248T	SMARCA2_uc003zhd.2_Silent_p.T248T|SMARCA2_uc010mha.2_Silent_p.T239T	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	248	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2170423	2170423	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2170423A>G	uc003zhc.2	+	29	4303	c.4204A>G	c.(4204-4206)AAC>GAC	p.N1402D	SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron|SMARCA2_uc011llw.1_Intron|SMARCA2_uc003zhf.2_Missense_Mutation_p.N66D|SMARCA2_uc011llx.1_Intron|SMARCA2_uc003zhe.2_Intron|SMARCA2_uc003zhg.2_Intron|SMARCA2_uc010mhb.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1402					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2635505	2635505	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2635505T>C	uc003zhk.1	+	2	532	c.135T>C	c.(133-135)TGT>TGC	p.C45C	VLDLR_uc003zhl.1_Silent_p.C45C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C45C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	45	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2648781	2648781	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2648781T>C	uc003zhk.1	+	14	2472	c.2075T>C	c.(2074-2076)ATT>ACT	p.I692T	VLDLR_uc003zhl.1_Missense_Mutation_p.I692T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.I651T	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	692	Extracellular (Potential).|LDL-receptor class B 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718173	2718173	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718173A>T	uc003zho.1	+	1	648	c.434A>T	c.(433-435)CAG>CTG	p.Q145L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	145	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718962	2718962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718962A>G	uc003zho.1	+	1	1437	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	408	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2729454	2729454	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2729454C>A	uc003zho.1	+	2	1579	c.1365C>A	c.(1363-1365)ATC>ATA	p.I455I		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3898791	3898791	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3898791G>A	uc003zhw.1	-	6	1757	c.1563C>T	c.(1561-1563)TGC>TGT	p.C521C	GLIS3_uc003zhx.1_Silent_p.C676C|GLIS3_uc010mhf.1_Silent_p.C70C|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.C454C|GLIS3_uc003zhz.1_Silent_p.C454C|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	521					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	4117945	4117945	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4117945G>A	uc003zhw.1	-	3	1262	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	GLIS3_uc003zhx.1_Silent_p.Y511Y|GLIS3_uc003zic.1_Silent_p.Y511Y|GLIS3_uc003zie.1_Silent_p.Y511Y|GLIS3_uc010mhh.1_Silent_p.Y386Y|GLIS3_uc003zid.1_Silent_p.Y289Y|GLIS3_uc010mhi.1_Silent_p.Y318Y|GLIS3_uc003zif.1_Silent_p.Y289Y|GLIS3_uc003zig.1_Silent_p.Y355Y|GLIS3_uc003zih.1_Silent_p.Y289Y|GLIS3_uc003zhy.1_Silent_p.Y289Y|GLIS3_uc003zhz.1_Silent_p.Y289Y|GLIS3_uc003zib.1_Silent_p.Y355Y|GLIS3_uc010mhg.1_Silent_p.Y289Y	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	356	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5044429	5044429	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5044429G>A	uc010mhm.2	+	4	490	c.377G>A	c.(376-378)AGT>AAT	p.S126N	JAK2_uc003ziw.2_Missense_Mutation_p.S126N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	126	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5070030	5070030	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5070030T>A	uc010mhm.2	+	11	1732	c.1619T>A	c.(1618-1620)ATC>AAC	p.I540N	JAK2_uc003ziw.2_Missense_Mutation_p.I540N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	540					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.I540_E543>MK(7)|p.I540_D544>MK(1)|p.I540I(1)|p.I540_E543>KK(1)|p.I540_N542>S(1)|p.H538_I540>DLS(1)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
PDCD1LG2	80380	broad.mit.edu	37	9	5557640	5557640	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5557640T>A	uc003zjg.3	+	5	927	c.654T>A	c.(652-654)CAT>CAA	p.H218Q	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.H218Q|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.S217T|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.S127T|PDCD1LG2_uc010mho.1_Missense_Mutation_p.H128Q	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	218	Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)														---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7013971	7013971	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7013971T>C	uc003zkh.2	+	14	2732	c.2152T>C	c.(2152-2154)TGT>CGT	p.C718R	KDM4C_uc010mhu.2_Missense_Mutation_p.C740R|KDM4C_uc011lmi.1_Missense_Mutation_p.C718R|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.C718R|KDM4C_uc011lmk.1_Missense_Mutation_p.C463R|KDM4C_uc011lml.1_Missense_Mutation_p.C405R	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	718	PHD-type 1.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8633320G>A	uc003zkk.2	-	13	1060	c.349C>T	c.(349-351)CGG>TGG	p.R117W	PTPRD_uc003zkp.2_Missense_Mutation_p.R117W|PTPRD_uc003zkq.2_Missense_Mutation_p.R117W|PTPRD_uc003zkr.2_Missense_Mutation_p.R117W|PTPRD_uc003zks.2_Missense_Mutation_p.R117W|PTPRD_uc003zkl.2_Missense_Mutation_p.R117W|PTPRD_uc003zkm.2_Missense_Mutation_p.R117W|PTPRD_uc003zkn.2_Missense_Mutation_p.R117W|PTPRD_uc003zko.2_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13107034	13107034	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13107034A>G	uc010mhy.2	-	45	6107	c.6056T>C	c.(6055-6057)GTC>GCC	p.V2019A	MPDZ_uc003zkx.3_Missense_Mutation_p.V243A|MPDZ_uc003zky.3_Missense_Mutation_p.V582A|MPDZ_uc010mib.2_Missense_Mutation_p.V753A|MPDZ_uc010mhx.2_Missense_Mutation_p.V870A|MPDZ_uc011lmm.1_Missense_Mutation_p.V907A|MPDZ_uc003zkz.3_Missense_Mutation_p.V741A|MPDZ_uc010mhz.2_Missense_Mutation_p.V2015A|MPDZ_uc011lmn.1_Missense_Mutation_p.V1986A|MPDZ_uc003zlb.3_Missense_Mutation_p.V2019A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2048	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168518	13168518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13168518C>T	uc010mia.1	-	21	3158	c.3101G>A	c.(3100-3102)CGA>CAA	p.R1034Q	MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1034Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1034Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1034Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1034Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1034	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13247792	13247792	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13247792G>A	uc010mia.1	-	2	82	c.25C>T	c.(25-27)CGG>TGG	p.R9W	MPDZ_uc010mhy.2_Missense_Mutation_p.R9W|MPDZ_uc010mhz.2_Missense_Mutation_p.R9W|MPDZ_uc011lmn.1_Missense_Mutation_p.R9W|MPDZ_uc003zlb.3_Missense_Mutation_p.R9W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	9	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14120524	14120524	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14120524A>T	uc003zle.2	-	8	1595	c.1160T>A	c.(1159-1161)ATC>AAC	p.I387N	NFIB_uc003zld.2_Missense_Mutation_p.I135N|NFIB_uc003zlf.2_Missense_Mutation_p.I387N|NFIB_uc011lmo.1_Missense_Mutation_p.I387N	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	387					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)				T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14801642	14801642	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14801642T>C	uc003zlm.2	-						FREM1_uc010mic.2_Intron	NM_144966	NP_659403			FRAS1 related extracellular matrix 1 precursor						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842570	14842570	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14842570G>A	uc003zlm.2	-	9	2072	c.1482C>T	c.(1480-1482)TTC>TTT	p.F494F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	494	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15267953	15267953	+	Intron	SNP	G	A	A	rs35213800		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15267953G>A	uc003zlr.1	-						TTC39B_uc010mie.1_Intron|TTC39B_uc011lmq.1_Intron|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Intron|TTC39B_uc010mig.1_Intron|TTC39B_uc011lms.1_Intron	NM_152574	NP_689787			tetratricopeptide repeat domain 39B								binding			ovary(1)	1																		---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16583063	16583063	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16583063T>C	uc003zml.2	-	4	491	c.351A>G	c.(349-351)GTA>GTG	p.V117V	BNC2_uc011lmw.1_Silent_p.V22V|BNC2_uc003zmm.2_Silent_p.V75V|BNC2_uc003zmq.1_Silent_p.V131V|BNC2_uc003zmr.1_Silent_p.V154V|BNC2_uc003zmp.1_Silent_p.V145V|BNC2_uc010mij.1_Silent_p.V39V|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Silent_p.V39V|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17394904	17394904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)														---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17789413	17789413	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17789413T>G	uc003zna.2	+	6	777	c.489T>G	c.(487-489)GGT>GGG	p.G163G	SH3GL2_uc011lmx.1_Silent_p.G128G|SH3GL2_uc011lmy.1_Silent_p.G116G	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	163	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18504839G>A	uc003zne.3	+	2	203	c.76G>A	c.(76-78)GCA>ACA	p.A26T	ADAMTSL1_uc003znb.2_Missense_Mutation_p.A26T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.A26T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	26						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18684731	18684731	+	Missense_Mutation	SNP	G	A	A	rs149221350	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18684731G>A	uc003zne.3	+	13	1634	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	ADAMTSL1_uc003znc.3_Missense_Mutation_p.A503T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	503						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826377	18826377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18826377T>C	uc003zne.3	+	22	4157	c.4030T>C	c.(4030-4032)TCC>CCC	p.S1344P	ADAMTSL1_uc003znf.3_Missense_Mutation_p.S45P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1344	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928404	18928404	+	Silent	SNP	G	A	A	rs141278609		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18928404G>A	uc003zni.1	-	4	1349	c.1071C>T	c.(1069-1071)CCC>CCT	p.P357P	FAM154A_uc010mip.1_Silent_p.P165P	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	357										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18941824	18941824	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18941824G>A	uc003zni.1	-	3	510	c.232C>T	c.(232-234)CCT>TCT	p.P78S	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	78										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19446249	19446249	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19446249C>T	uc003zny.1	+						ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Intron	NM_001010887	NP_001010887			alkaline ceramidase 2						ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2																		---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20881935	20881935	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20881935C>T	uc003zog.1	+	22	2746	c.2383C>T	c.(2383-2385)CAC>TAC	p.H795Y	KIAA1797_uc003zoh.1_Missense_Mutation_p.H231Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	795						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)														---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333123	21333123	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21333123T>A	uc003zoy.2	-	1	2307	c.1736A>T	c.(1735-1737)GAT>GTT	p.D579V	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	579	Kelch 6.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)														---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409397	21409397	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21409397T>A	uc003zpc.1	+	1	252	c.222T>A	c.(220-222)GCT>GCA	p.A74A		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	74					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)														---	---	---	---
IFNE	338376	broad.mit.edu	37	9	21481336	21481336	+	Missense_Mutation	SNP	G	T	T	rs143925423		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21481336G>T	uc003zpg.2	-	1	977	c.358C>A	c.(358-360)CTA>ATA	p.L120I	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	120					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0																		---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22447088	22447088	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:22447088C>G	uc003zpp.1	+	1	249	c.24C>G	c.(22-24)AGC>AGG	p.S8R		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	8					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26842414	26842414	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26842414G>T	uc003zqc.2	-	6	983	c.971C>A	c.(970-972)CCT>CAT	p.P324H	C9orf82_uc003zqb.2_Missense_Mutation_p.P179H	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	324											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
C9orf82	79886	broad.mit.edu	37	9	26887301	26887301	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26887301A>G	uc003zqc.2	-						C9orf82_uc003zqb.2_Intron	NM_024828	NP_079104			hypothetical protein LOC79886												0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26917168	26917168	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26917168G>A	uc003zqd.2	-						PLAA_uc003zqe.2_Intron	NM_001031689	NP_001026859			phospholipase A2-activating protein						phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26919405	26919405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26919405A>T	uc003zqd.2	-	9	1745	c.1320T>A	c.(1318-1320)AAT>AAA	p.N440K	PLAA_uc003zqe.2_Missense_Mutation_p.N440K	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	440	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26935065	26935065	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26935065A>G	uc003zqd.2	-	2	714	c.289T>C	c.(289-291)TTC>CTC	p.F97L	PLAA_uc003zqe.2_Missense_Mutation_p.F97L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	97	WD 2.			F -> L (in Ref. 5; AAD42075).	phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
LRRC19	64922	broad.mit.edu	37	9	26997993	26997993	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26997993A>G	uc003zqh.2	-	3	439	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	110	LRR 3.|Extracellular (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)														---	---	---	---
MOBKL2B	79817	broad.mit.edu	37	9	27455355	27455355	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27455355A>G	uc003zqn.2	-	2	690	c.194T>C	c.(193-195)GTG>GCG	p.V65A		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	65							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32418352	32418352	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32418352G>A	uc003zqw.3	+	6	656	c.501G>A	c.(499-501)ATG>ATA	p.M167I	ACO1_uc010mjh.1_Missense_Mutation_p.M1I|ACO1_uc003zqx.3_Missense_Mutation_p.M167I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	167					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630784	32630784	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630784A>G	uc003zrg.1	-	1	4884	c.4794T>C	c.(4792-4794)AGT>AGC	p.S1598S	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1598	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633593	32633593	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32633593A>T	uc003zrg.1	-	1	2075	c.1985T>A	c.(1984-1986)ATC>AAC	p.I662N	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	662					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634929	32634929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32634929C>T	uc003zrg.1	-	1	739	c.649G>A	c.(649-651)GCA>ACA	p.A217T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	217					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33271164	33271164	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33271164A>G	uc003zsl.3	+	6	685	c.330A>G	c.(328-330)AAA>AAG	p.K110K	SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Silent_p.K110K|CHMP5_uc011lnv.1_Silent_p.K110K|CHMP5_uc003zsn.2_RNA	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5	110	Potential.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)															---	---	---	---
AQP7	364	broad.mit.edu	37	9	33386120	33386120	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33386120G>A	uc003zst.2	-	6	652	c.480C>T	c.(478-480)ACC>ACT	p.T160T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T103T|AQP7_uc010mjs.2_Silent_p.T68T|AQP7_uc010mjt.2_Silent_p.T68T|AQP7_uc011lnx.1_Silent_p.T160T|AQP7_uc011lny.1_Silent_p.T159T|AQP7_uc003zss.3_Silent_p.T68T|AQP7_uc011lnz.1_Silent_p.T68T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	160	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33463366	33463366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33463366C>T	uc003zsz.2	-	24	3169	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R77H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R1020H|NOL6_uc011lob.1_Missense_Mutation_p.R971H|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1023					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33468037	33468037	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33468037T>C	uc003zsz.2	-	11	1516	c.1415A>G	c.(1414-1416)CAT>CGT	p.H472R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H472R|NOL6_uc010mjv.2_Missense_Mutation_p.H469R|NOL6_uc011lob.1_Missense_Mutation_p.H420R|NOL6_uc003ztb.1_Missense_Mutation_p.H472R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	472					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33973225	33973225	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33973225A>G	uc003ztq.1	-	7	644	c.531T>C	c.(529-531)CGT>CGC	p.R177R	UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Silent_p.R102R|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	177										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)														---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34256008	34256008	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34256008T>C	uc003zua.3	-	11	3717	c.3597A>G	c.(3595-3597)GTA>GTG	p.V1199V	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1199					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)															---	---	---	---
NUDT2	318	broad.mit.edu	37	9	34343290	34343290	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34343290A>G	uc003zub.2	+	5	654	c.296A>G	c.(295-297)AAG>AGG	p.K99R	NUDT2_uc003zuc.2_Missense_Mutation_p.K99R|NUDT2_uc003zud.2_Missense_Mutation_p.K99R	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	99	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34372048	34372048	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34372048A>G	uc003zue.3	-	3	1061	c.894T>C	c.(892-894)CGT>CGC	p.R298R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
GALT	2592	broad.mit.edu	37	9	34646774	34646774	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34646774C>A	uc003zve.2	+	1	140	c.73C>A	c.(73-75)CGG>AGG	p.R25R	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_5'UTR|GALT_uc011lop.1_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	25					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GALT	2592	broad.mit.edu	37	9	34647969	34647969	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34647969T>A	uc003zve.2	+						GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_Intron|GALT_uc003zvh.2_Intron|GALT_uc011lop.1_Intron|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146			galactose-1-phosphate uridylyltransferase						galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
GALT	2592	broad.mit.edu	37	9	34648762	34648762	+	Missense_Mutation	SNP	C	T	T	rs111033749		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34648762C>T	uc003zve.2	+	8	758	c.691C>T	c.(691-693)CGT>TGT	p.R231C	GALT_uc003zvf.2_Missense_Mutation_p.R122C|GALT_uc003zvg.2_Missense_Mutation_p.R103C|GALT_uc003zvh.2_Missense_Mutation_p.R183C|GALT_uc011lop.1_Missense_Mutation_p.R183C|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	231			R -> H (in GALCT; 15% of normal activity).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia				---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971621	34971621	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34971621G>A	uc003zvq.2	+	2	504	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	KIAA1045_uc003zvr.2_Missense_Mutation_p.R109Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	109							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34978047	34978047	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34978047T>A	uc003zvq.2	+	8	1320	c.1142T>A	c.(1141-1143)GTC>GAC	p.V381D	KIAA1045_uc003zvr.2_Missense_Mutation_p.V381D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	381							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043238	35043238	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35043238C>T	uc003zvw.2	+	2	641	c.612C>T	c.(610-612)AGC>AGT	p.S204S	C9orf131_uc003zvu.2_Silent_p.S156S|C9orf131_uc003zvv.2_Silent_p.S131S|C9orf131_uc003zvx.2_Silent_p.S169S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	204											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35078616	35078616	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35078616C>T	uc003zwb.1	-	3	785	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R98Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	98					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)					Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091255	35091255	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35091255T>A	uc003zwd.2	-	7	3025	c.2629A>T	c.(2629-2631)ATA>TTA	p.I877L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.I460L|PIGO_uc003zwf.2_Missense_Mutation_p.I460L|PIGO_uc003zwg.1_Missense_Mutation_p.I440L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	877	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
KIAA1539	80256	broad.mit.edu	37	9	35107420	35107420	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35107420G>T	uc003zwl.2	-	3	1177	c.852C>A	c.(850-852)CCC>CCA	p.P284P	KIAA1539_uc003zwm.2_Silent_p.P284P|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.P284P|KIAA1539_uc003zwp.1_Silent_p.P284P|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	284						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35259056	35259056	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35259056G>A	uc003zwq.2	+						UNC13B_uc010mkl.1_Intron|UNC13B_uc003zwr.2_Intron	NM_006377	NP_006368			UNC13 (C. elegans)-like						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)													OREG0019168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35380473	35380473	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35380473C>T	uc003zwq.2	+	17	2257	c.1965C>T	c.(1963-1965)TGC>TGT	p.C655C	UNC13B_uc003zwr.2_Silent_p.C655C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	655	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35382434	35382434	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35382434C>T	uc003zwq.2	+	20	2781	c.2489C>T	c.(2488-2490)GCC>GTC	p.A830V	UNC13B_uc003zwr.2_Missense_Mutation_p.A830V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	830					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547295	35547295	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547295C>T	uc003zww.2	+	2	1032	c.777C>T	c.(775-777)TCC>TCT	p.S259S	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.S259S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	259						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35547634	35547634	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35547634G>A	uc003zww.2	+	2	1371	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P372P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	372						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35561189	35561189	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35561189C>T	uc003zww.2	+	12	4616	c.4361C>T	c.(4360-4362)GCA>GTA	p.A1454V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1454V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1454	SH3.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609008	35609008	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35609008C>T	uc003zxa.2	+	10	1486	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Missense_Mutation_p.R224W	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	384					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
SIT1	27240	broad.mit.edu	37	9	35650822	35650822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35650822G>A	uc003zxe.1	-	1	126	c.29C>T	c.(28-30)GCA>GTA	p.A10V	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	10					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TPM2	7169	broad.mit.edu	37	9	35685136	35685136	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35685136G>A	uc003zxq.2	-	6	803	c.564C>T	c.(562-564)AGC>AGT	p.S188S	TPM2_uc003zxr.2_Intron|TPM2_uc003zxs.2_Intron|TPM2_uc010mkz.2_Silent_p.S188S|TPM2_uc011lpa.1_3'UTR	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	188	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720857	35720857	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35720857C>T	uc003zxt.2	-	11	1512	c.1158G>A	c.(1156-1158)GAG>GAA	p.E386E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	386	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
HINT2	84681	broad.mit.edu	37	9	35813042	35813042	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35813042T>C	uc003zyh.2	-	5					SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_3'UTR	NM_032593	NP_115982			PKCI-1-related HIT protein precursor						apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity				0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37304177	37304177	+	Intron	SNP	T	C	C	rs138557652		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37304177T>C	uc003zzq.2	+						ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Intron|ZCCHC7_uc010mlt.2_Intron	NM_032226	NP_115602			zinc finger, CCHC domain containing 7								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)														---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440560	37440560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37440560G>A	uc003zzx.2	-	2	2189	c.1989C>T	c.(1987-1989)ACC>ACT	p.T663T		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	663	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)														---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37521836	37521836	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37521836C>T	uc004aab.2	-	8	1980	c.1931_splice	c.e8-1	p.A644_splice	FBXO10_uc004aac.2_Splice_Site_p.A660_splice|FBXO10_uc004aad.2_Splice_Site_p.A194_splice	NM_012166	NP_036298			F-box protein 10							ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)														---	---	---	---
MCART1	92014	broad.mit.edu	37	9	37888102	37888102	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37888102T>G	uc004aau.2	-	3	1190	c.446A>C	c.(445-447)AAG>ACG	p.K149T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K149T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	149	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)														---	---	---	---
ANKRD20A3	441425	broad.mit.edu	37	9	42368597	42368597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:42368597C>T	uc004acd.2	+	1	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D	ANKRD20A3_uc010mmv.2_Silent_p.D61D	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	61											0																		---	---	---	---
FOXD4L3	286380	broad.mit.edu	37	9	70918913	70918913	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70918913G>A	uc004agm.1	+	1	1131	c.1046G>A	c.(1045-1047)CGT>CAT	p.R349H		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)														---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70999325	70999325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70999325G>A	uc004agr.2	+	3	665	c.436G>A	c.(436-438)GAT>AAT	p.D146N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	146					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836211	71836211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836211C>T	uc004ahe.2	+	5	951	c.751C>T	c.(751-753)CGA>TGA	p.R251*	TJP2_uc011lrs.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahb.1_Nonsense_Mutation_p.R228*|TJP2_uc011lrt.1_Nonsense_Mutation_p.R228*|TJP2_uc004ahd.2_Nonsense_Mutation_p.R251*|TJP2_uc004ahf.2_Nonsense_Mutation_p.R251*|TJP2_uc011lru.1_Nonsense_Mutation_p.R255*|TJP2_uc011lrv.1_Nonsense_Mutation_p.R273*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	251					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
APBA1	320	broad.mit.edu	37	9	72046302	72046302	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72046302T>C	uc004ahh.2	-	13	2731	c.2455A>G	c.(2455-2457)ACA>GCA	p.T819A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	819	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1																		---	---	---	---
PTAR1	375743	broad.mit.edu	37	9	72338404	72338404	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72338404G>T	uc004ahj.3	-	6	807	c.785C>A	c.(784-786)CCT>CAT	p.P262H	PTAR1_uc004ahi.2_Missense_Mutation_p.P183H	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	262					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
C9orf135	138255	broad.mit.edu	37	9	72521056	72521056	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72521056T>A	uc004ahl.2	+	6					C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_3'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	NM_001010940	NP_001010940			hypothetical protein LOC138255							integral to membrane				ovary(1)	1																		---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72892398	72892398	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72892398A>G	uc004ahr.2	+							NM_015110	NP_055925			SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KLF9	687	broad.mit.edu	37	9	73002756	73002756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73002756C>T	uc004aht.2	-	2	1965	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	224	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73240126	73240126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73240126T>C	uc004aid.2	-	13	1998	c.1754A>G	c.(1753-1755)AAC>AGC	p.N585S	TRPM3_uc004ahu.2_Missense_Mutation_p.N415S|TRPM3_uc004ahv.2_Missense_Mutation_p.N397S|TRPM3_uc004ahw.2_Missense_Mutation_p.N457S|TRPM3_uc004ahx.2_Missense_Mutation_p.N444S|TRPM3_uc004ahy.2_Missense_Mutation_p.N457S|TRPM3_uc004ahz.2_Missense_Mutation_p.N444S|TRPM3_uc004aia.2_Missense_Mutation_p.N432S|TRPM3_uc004aib.2_Missense_Mutation_p.N432S|TRPM3_uc004aic.2_Missense_Mutation_p.N585S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	610	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74313130	74313130	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74313130A>T	uc011lsa.1	-						TMEM2_uc011lrz.1_Intron|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74315635	74315635	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74315635T>A	uc011lsa.1	-	19	3840	c.3300A>T	c.(3298-3300)GAA>GAT	p.E1100D	TMEM2_uc011lrz.1_Missense_Mutation_p.E93D|TMEM2_uc010mos.2_Missense_Mutation_p.E1037D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1100						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74319730	74319730	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74319730T>C	uc011lsa.1	-						TMEM2_uc011lrz.1_5'UTR|TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron	NM_013390	NP_037522			transmembrane protein 2 isoform a							integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74360123	74360123	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74360123C>T	uc011lsa.1	-	4	1385	c.845G>A	c.(844-846)AGT>AAT	p.S282N	TMEM2_uc010mos.2_Missense_Mutation_p.S282N|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	282						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
GDA	9615	broad.mit.edu	37	9	74817550	74817550	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74817550A>G	uc004aiq.2	+	3	459	c.276A>G	c.(274-276)GGA>GGG	p.G92G	GDA_uc011lse.1_Silent_p.G18G|GDA_uc011lsf.1_Silent_p.G18G|GDA_uc004air.2_Silent_p.G92G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G50G|GDA_uc004ait.1_Silent_p.G18G	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)														---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75355124	75355124	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75355124A>C	uc004aiz.1	+	9	992	c.452A>C	c.(451-453)AAG>ACG	p.K151T	TMC1_uc010moz.1_Missense_Mutation_p.K109T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.K5T|TMC1_uc010mpa.1_Missense_Mutation_p.K5T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	151	Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				ovary(1)	1																		---	---	---	---
RORB	6096	broad.mit.edu	37	9	77280434	77280434	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77280434G>A	uc004aji.2	+	7	1005	c.956G>A	c.(955-957)TGC>TAC	p.C319Y	RORB_uc004ajh.2_Missense_Mutation_p.C308Y	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	319	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77397726	77397726	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77397726A>G	uc004ajl.1	-	22	3201	c.2963T>C	c.(2962-2964)CTG>CCG	p.L988P	TRPM6_uc004ajk.1_Missense_Mutation_p.L983P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.L274P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	988	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
OSTF1	26578	broad.mit.edu	37	9	77755767	77755767	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77755767A>G	uc004ajv.3	+	9	716	c.505A>G	c.(505-507)AGA>GGA	p.R169G	OSTF1_uc004ajw.3_Missense_Mutation_p.R126G|OSTF1_uc004ajx.3_Missense_Mutation_p.R172G	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	169					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	78907144	78907144	+	IGR	SNP	T	C	C	rs148732504		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78907144T>C								PCSK5 (98806 upstream) : RFK (93289 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	78953147	78953147	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78953147T>C	uc004akc.1	+	7	1145	c.925T>C	c.(925-927)TAT>CAT	p.Y309H						Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.																														---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79323928	79323928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79323928A>G	uc010mpk.2	-	8	3386	c.3262T>C	c.(3262-3264)TAC>CAC	p.Y1088H		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1088					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465382	79465382	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465382G>A	uc010mpk.2	-	3	465	c.341C>T	c.(340-342)GCG>GTG	p.A114V	PRUNE2_uc004akn.2_Missense_Mutation_p.A114V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	114					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79465470	79465470	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79465470A>G	uc010mpk.2	-	3	377	c.253T>C	c.(253-255)TTC>CTC	p.F85L	PRUNE2_uc004akn.2_Missense_Mutation_p.F85L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	85					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79896801	79896801	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79896801G>A	uc004akr.2	+	28	3183	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	VPS13A_uc004akp.3_Missense_Mutation_p.D975N|VPS13A_uc004akq.3_Missense_Mutation_p.D975N|VPS13A_uc004aks.2_Missense_Mutation_p.D975N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	975					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79946953	79946953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79946953T>C	uc004akr.2	+	46	6279	c.6019T>C	c.(6019-6021)TCT>CCT	p.S2007P	VPS13A_uc004akp.3_Missense_Mutation_p.S2007P|VPS13A_uc004akq.3_Missense_Mutation_p.S2007P|VPS13A_uc004aks.2_Missense_Mutation_p.S1968P|VPS13A_uc004akt.2_Missense_Mutation_p.S347P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2007					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80144131	80144131	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80144131T>C	uc004aku.2	-	2	686	c.163A>G	c.(163-165)ATG>GTG	p.M55V		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	55					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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			ovary(2)	2																		---	---	---	---
GNAQ	2776	broad.mit.edu	37	9	80343493	80343493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80343493T>C	uc004akw.2	-	6	867	c.826A>G	c.(826-828)AAA>GAA	p.K276E	GNAQ_uc011lso.1_Missense_Mutation_p.K74E	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	276	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193								Mis		uveal melanoma								---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80915531	80915531	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80915531T>C	uc004ala.2	+	2	142	c.74T>C	c.(73-75)ATA>ACA	p.I25T	PSAT1_uc004alb.2_Missense_Mutation_p.I25T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	25					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80943013	80943013	+	Missense_Mutation	SNP	C	T	T	rs113824905		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80943013C>T	uc004ala.2	+	8	984	c.916C>T	c.(916-918)CGC>TGC	p.R306C	PSAT1_uc004alb.2_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	306					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006496	82006496	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006496C>T								None (None upstream) : TLE4 (180382 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006606	82006606	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006606G>A								None (None upstream) : TLE4 (180272 downstream)																																			---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82242307	82242307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82242307C>T	uc004ald.2	+	6	1162	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	TLE4_uc004alc.2_Nonsense_Mutation_p.Q112*|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Nonsense_Mutation_p.Q105*|TLE4_uc004alf.2_Nonsense_Mutation_p.Q50*	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82319820	82319820	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82319820A>T	uc004ald.2	+						TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936			transducin-like enhancer protein 4											lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84199195	84199195	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84199195C>T	uc004aly.2	-	20	2672	c.2231G>A	c.(2230-2232)AGC>AAC	p.S744N	TLE1_uc004alz.2_Missense_Mutation_p.S754N|TLE1_uc011lsr.1_Missense_Mutation_p.S729N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	744	WD 6.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84248267	84248267	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84248267C>T	uc004aly.2	-	8	1031	c.590G>A	c.(589-591)GGC>GAC	p.G197D	TLE1_uc004alz.2_Missense_Mutation_p.G207D|TLE1_uc011lsr.1_Missense_Mutation_p.G197D|TLE1_uc004ama.1_Missense_Mutation_p.G197D|TLE1_uc011lss.1_Intron	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	197	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606307	84606307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606307G>A	uc004amn.2	+	4	969	c.922G>A	c.(922-924)GAT>AAT	p.D308N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	308						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84606581	84606581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606581T>C	uc004amn.2	+	4	1243	c.1196T>C	c.(1195-1197)ATA>ACA	p.I399T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	399						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84607051	84607051	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84607051C>T	uc004amn.2	+	4	1713	c.1666C>T	c.(1666-1668)CCT>TCT	p.P556S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	556						integral to membrane					0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608052	84608052	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608052C>A	uc004amn.2	+	4	2714	c.2667C>A	c.(2665-2667)TCC>TCA	p.S889S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	889						integral to membrane					0																		---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85612040	85612040	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85612040A>T	uc004amo.1	-	14	2068	c.1807T>A	c.(1807-1809)TTC>ATC	p.F603I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	603					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3																		---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85913663	85913663	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85913663C>A	uc004ams.1	-	12	1272	c.1070G>T	c.(1069-1071)AGA>ATA	p.R357I	FRMD3_uc004amr.1_Missense_Mutation_p.R343I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	357						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86276735	86276735	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86276735A>C	uc004amv.2	-	11	2311	c.1737T>G	c.(1735-1737)GCT>GCG	p.A579A	UBQLN1_uc004amw.2_Silent_p.A551A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	579	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86294735	86294735	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86294735A>T	uc004amv.2	-	4	1240	c.666T>A	c.(664-666)AAT>AAA	p.N222K	UBQLN1_uc004amw.2_Missense_Mutation_p.N222K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	222					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---
C9orf64	84267	broad.mit.edu	37	9	86570365	86570365	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86570365A>G	uc004anb.2	-	2	776	c.528T>C	c.(526-528)AAT>AAC	p.N176N	C9orf64_uc004anc.2_Silent_p.N35N	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	176											0																		---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87285819	87285819	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87285819C>T	uc004aoa.1	+	4	1094	c.156C>T	c.(154-156)ATC>ATT	p.I52I	NTRK2_uc004anv.1_Silent_p.I52I|NTRK2_uc004any.1_Silent_p.I52I|NTRK2_uc004anz.1_Silent_p.I52I|NTRK2_uc011lsz.1_Silent_p.I52I|NTRK2_uc011lta.1_Silent_p.I52I|NTRK2_uc004aob.1_Silent_p.I52I|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	52	Extracellular (Potential).|LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87356849	87356849	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87356849A>G	uc004aoa.1	+						NTRK2_uc004anv.1_Intron|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Intron|NTRK2_uc011ltb.1_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87425480	87425480	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87425480C>A	uc004aoa.1	+						NTRK2_uc004anv.1_Missense_Mutation_p.P461T|NTRK2_uc004any.1_Intron|NTRK2_uc004anz.1_Intron|NTRK2_uc011lsz.1_Intron|NTRK2_uc011lta.1_Intron|NTRK2_uc004aob.1_Missense_Mutation_p.P474T|NTRK2_uc011ltb.1_Missense_Mutation_p.P318T|NTRK2_uc004aoc.2_Intron	NM_001018064	NP_001018074			neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87635214	87635214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87635214G>A	uc004aoa.1	+	19	3156	c.2218G>A	c.(2218-2220)GGG>AGG	p.G740R	NTRK2_uc004anz.1_Missense_Mutation_p.G756R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	740	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88234216	88234216	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88234216A>C	uc011ltd.1	-	15	2133	c.2100T>G	c.(2098-2100)AAT>AAG	p.N700K	AGTPBP1_uc004aod.3_Missense_Mutation_p.N326K|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N598K|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N660K|AGTPBP1_uc011lte.1_Missense_Mutation_p.N712K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	700					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7																		---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88943388	88943388	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88943388C>T	uc004aoq.2	-	11	1690	c.1475G>A	c.(1474-1476)AGC>AAC	p.S492N	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S369N|ZCCHC6_uc004aou.2_Missense_Mutation_p.S492N	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	492					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90254619	90254619	+	Intron	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90254619G>C	uc004apc.2	+						DAPK1_uc004ape.2_Intron|DAPK1_uc004apd.2_Intron|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Intron	NM_004938	NP_004929			death-associated protein kinase 1						apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2														Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				---	---	---	---
C9orf79	286234	broad.mit.edu	37	9	90503684	90503684	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90503684G>A	uc004app.3	+	4	4317	c.4282G>A	c.(4282-4284)GGC>AGC	p.G1428S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1428						integral to membrane				ovary(3)	3																		---	---	---	---
S1PR3	1903	broad.mit.edu	37	9	91617218	91617218	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91617218A>G	uc004aqe.2	+	2	1499	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	368	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91972374	91972374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91972374A>G	uc004aqj.1	+	15	2242	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	SECISBP2_uc011ltk.1_Missense_Mutation_p.Q720R|SECISBP2_uc004aqk.1_Missense_Mutation_p.Q648R|SECISBP2_uc010mqo.1_Missense_Mutation_p.Q426R|SECISBP2_uc011ltl.1_Missense_Mutation_p.Q653R	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	721					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92003858	92003858	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92003858C>T	uc004aqo.1	-	12	1451	c.879G>A	c.(877-879)CTG>CTA	p.L293L	SEMA4D_uc011ltm.1_Silent_p.L293L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L291L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	293	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92008521	92008521	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92008521C>T	uc004aqo.1	-	9	1036	c.464G>A	c.(463-465)AGA>AAA	p.R155K	SEMA4D_uc011ltm.1_Missense_Mutation_p.R155K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R153K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	155	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606454	93606454	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93606454C>T	uc004aqz.2	+	2	479	c.274C>T	c.(274-276)CAC>TAC	p.H92Y	SYK_uc004aqy.2_Missense_Mutation_p.H92Y|SYK_uc004ara.2_Missense_Mutation_p.H92Y|SYK_uc004arb.2_Missense_Mutation_p.H92Y|SYK_uc004arc.2_Missense_Mutation_p.H92Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	92	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
SYK	6850	broad.mit.edu	37	9	93636501	93636501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93636501G>A	uc004aqz.2	+	8	1136	c.931G>A	c.(931-933)GGG>AGG	p.G311R	SYK_uc004ara.2_Missense_Mutation_p.G288R|SYK_uc004arb.2_Missense_Mutation_p.G288R|SYK_uc004arc.2_Missense_Mutation_p.G311R|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	311	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5								T	ETV6|ITK	MDS|peripheral T-cell lymphoma								---	---	---	---
AUH	549	broad.mit.edu	37	9	93979588	93979588	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93979588C>T	uc004arf.3	-	8	900	c.865G>A	c.(865-867)GCA>ACA	p.A289T	AUH_uc004arg.3_Missense_Mutation_p.A260T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	289					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172249	94172249	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172249T>C	uc004arh.2	-	2	1163	c.768A>G	c.(766-768)TCA>TCG	p.S256S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94486078C>T	uc004arj.1	-	9	2897	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94487031	94487031	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94487031G>A	uc004arj.1	-	9	1944	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	ROR2_uc004ari.1_Missense_Mutation_p.T442M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	582	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
IARS	3376	broad.mit.edu	37	9	95040154	95040154	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95040154A>T	uc004art.1	-	9	1142	c.885T>A	c.(883-885)TAT>TAA	p.Y295*	IARS_uc004ars.1_Nonsense_Mutation_p.Y140*|IARS_uc004aru.3_Nonsense_Mutation_p.Y295*|IARS_uc010mqr.2_Nonsense_Mutation_p.Y185*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	295					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95077604	95077604	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95077604C>T	uc004arv.2	-	7	1640	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E367K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	435					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95258669	95258669	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95258669T>A	uc004ash.2	-	10	2093	c.2028A>T	c.(2026-2028)GAA>GAT	p.E676D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Missense_Mutation_p.E676D|ECM2_uc004asg.2_Missense_Mutation_p.E654D|ECM2_uc010mqz.1_Missense_Mutation_p.E98D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	676	LRR 13.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2																		---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95418797	95418797	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95418797C>T	uc004asl.1	-	3	443	c.166G>A	c.(166-168)GTG>ATG	p.V56M		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	56					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95482980	95482980	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95482980G>A	uc004aso.1	-	4	721	c.664C>T	c.(664-666)CTC>TTC	p.L222F	BICD2_uc004asp.1_Missense_Mutation_p.L222F	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	222	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95485026	95485026	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95485026C>T	uc004aso.1	-	3	575	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	BICD2_uc004asp.1_Missense_Mutation_p.R173Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	173	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95491462	95491462	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95491462C>T	uc004aso.1	-	2	354	c.297G>A	c.(295-297)CGG>CGA	p.R99R	BICD2_uc004asp.1_Silent_p.R99R	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	99	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95780478	95780478	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95780478T>A	uc004asw.2	+	11	1964	c.1336T>A	c.(1336-1338)TCC>ACC	p.S446T	FGD3_uc004asx.2_Missense_Mutation_p.S446T|FGD3_uc004asz.2_Missense_Mutation_p.S446T|FGD3_uc004ata.2_Missense_Mutation_p.S249T|FGD3_uc011luc.1_Missense_Mutation_p.S49T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	446	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95795136	95795136	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95795136T>C	uc004asw.2	+	16	2394	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A	FGD3_uc004asx.2_Missense_Mutation_p.V589A|FGD3_uc004asz.2_Missense_Mutation_p.V589A|FGD3_uc011luc.1_Missense_Mutation_p.V192A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	589					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96294524	96294524	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96294524T>C	uc004atw.2	+	10	1847	c.1822T>C	c.(1822-1824)TAT>CAT	p.Y608H	FAM120A_uc004atx.2_Missense_Mutation_p.Y390H|FAM120A_uc004aty.2_Missense_Mutation_p.Y389H|FAM120A_uc004atz.2_Missense_Mutation_p.Y257H|FAM120A_uc010mrg.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	608						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96312895	96312895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96312895G>A	uc004atw.2	+	12	2221	c.2196G>A	c.(2194-2196)CGG>CGA	p.R732R	FAM120A_uc004aty.2_Silent_p.R513R|FAM120A_uc004atz.2_Silent_p.R381R|FAM120A_uc010mrg.2_Silent_p.R45R	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	732						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98209422	98209422	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98209422C>A	uc004avk.3	-	23	4304	c.4116G>T	c.(4114-4116)ACG>ACT	p.T1372T	PTCH1_uc010mrn.2_Silent_p.T164T|PTCH1_uc010mro.2_Silent_p.T1221T|PTCH1_uc010mrp.2_Silent_p.T1221T|PTCH1_uc010mrq.2_Silent_p.T1221T|PTCH1_uc004avl.3_Silent_p.T1221T|PTCH1_uc010mrr.2_Silent_p.T1306T|PTCH1_uc004avm.3_Silent_p.T1371T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1372	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98222017	98222017	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98222017C>T	uc004avk.3	-	17	2940	c.2752G>A	c.(2752-2754)GCT>ACT	p.A918T	PTCH1_uc010mro.2_Missense_Mutation_p.A767T|PTCH1_uc010mrp.2_Missense_Mutation_p.A767T|PTCH1_uc010mrq.2_Missense_Mutation_p.A767T|PTCH1_uc004avl.3_Missense_Mutation_p.A767T|PTCH1_uc010mrr.2_Missense_Mutation_p.A852T|PTCH1_uc004avm.3_Missense_Mutation_p.A917T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	918	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98231206	98231206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98231206T>C	uc004avk.3	-	14	2265	c.2077A>G	c.(2077-2079)ACA>GCA	p.T693A	PTCH1_uc010mro.2_Missense_Mutation_p.T542A|PTCH1_uc010mrp.2_Missense_Mutation_p.T542A|PTCH1_uc010mrq.2_Missense_Mutation_p.T542A|PTCH1_uc004avl.3_Missense_Mutation_p.T542A|PTCH1_uc010mrr.2_Missense_Mutation_p.T627A|PTCH1_uc004avm.3_Missense_Mutation_p.T692A|PTCH1_uc010mrs.1_Missense_Mutation_p.T361A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	693	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98232174	98232174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98232174G>A	uc004avk.3	-	13	1956	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F	PTCH1_uc010mro.2_Missense_Mutation_p.L439F|PTCH1_uc010mrp.2_Missense_Mutation_p.L439F|PTCH1_uc010mrq.2_Missense_Mutation_p.L439F|PTCH1_uc004avl.3_Missense_Mutation_p.L439F|PTCH1_uc010mrr.2_Missense_Mutation_p.L524F|PTCH1_uc004avm.3_Missense_Mutation_p.L589F|PTCH1_uc010mrs.1_Missense_Mutation_p.L258F	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	590	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98242681	98242681	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98242681A>T	uc004avk.3	-	6	1124	c.936T>A	c.(934-936)AAT>AAA	p.N312K	PTCH1_uc010mro.2_Missense_Mutation_p.N161K|PTCH1_uc010mrp.2_Missense_Mutation_p.N161K|PTCH1_uc010mrq.2_Missense_Mutation_p.N161K|PTCH1_uc004avl.3_Missense_Mutation_p.N161K|PTCH1_uc010mrr.2_Missense_Mutation_p.N246K|PTCH1_uc004avm.3_Missense_Mutation_p.N311K|PTCH1_uc010mrs.1_Missense_Mutation_p.N32K|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	312	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98678046	98678046	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98678046C>G	uc004avt.3	+	5	1306	c.918C>G	c.(916-918)GTC>GTG	p.V306V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V8V|C9orf102_uc010mry.1_Silent_p.V8V|C9orf102_uc010mrz.2_Silent_p.V117V	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	306	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98683463	98683463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98683463T>C	uc004avt.3	+	7	1586	c.1198T>C	c.(1198-1200)TAT>CAT	p.Y400H	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y102H|C9orf102_uc010mry.1_Missense_Mutation_p.Y102H|C9orf102_uc010mrz.2_Missense_Mutation_p.Y211H|C9orf102_uc004avu.2_5'Flank	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	400					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
SLC35D2	11046	broad.mit.edu	37	9	99113464	99113464	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99113464T>A	uc004awc.2	-						SLC35D2_uc010msd.2_Intron|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_3'UTR	NM_007001	NP_008932			solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99521344	99521344	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99521344G>A	uc004awn.1	-	6	1957	c.1768C>T	c.(1768-1770)CAT>TAT	p.H590Y	ZNF510_uc004awo.1_Missense_Mutation_p.H590Y	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	590	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99522242	99522242	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99522242A>T	uc004awn.1	-	6	1059	c.870T>A	c.(868-870)AAT>AAA	p.N290K	ZNF510_uc004awo.1_Missense_Mutation_p.N290K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100074423	100074423	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100074423G>A	uc011lut.1	+	16	1611	c.838G>A	c.(838-840)GCC>ACC	p.A280T	KIAA1529_uc004axe.1_Missense_Mutation_p.A280T|KIAA1529_uc004axg.1_Missense_Mutation_p.A141T|KIAA1529_uc011lus.1_Missense_Mutation_p.A141T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A141T|KIAA1529_uc011luv.1_Missense_Mutation_p.A141T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100093058	100093058	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100093058G>T	uc011lut.1	+						KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Intron|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron|KIAA1529_uc004axf.2_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100204028	100204028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100204028G>A	uc004axj.2	+	6	951	c.726G>A	c.(724-726)AAG>AAA	p.K242K	TDRD7_uc011lux.1_Silent_p.K168K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	242	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100222954	100222954	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100222954G>T	uc004axj.2	+	7	1575	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	TDRD7_uc011lux.1_Missense_Mutation_p.E376D	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	450					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100403911	100403911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100403911A>G	uc004axq.2	+	3	650	c.191A>G	c.(190-192)TAC>TGC	p.Y64C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	64	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100425241	100425241	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100425241A>G	uc004axq.2	+	18	2168	c.1709A>G	c.(1708-1710)CAT>CGT	p.H570R		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	570					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101533295	101533295	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101533295G>A	uc004ayu.2	-	10	1876	c.1855C>T	c.(1855-1857)CCC>TCC	p.P619S	ANKS6_uc004ayt.2_Missense_Mutation_p.P318S|ANKS6_uc004ayv.1_Missense_Mutation_p.P81S|ANKS6_uc004ayw.1_Missense_Mutation_p.P201S|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	619	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101602296	101602296	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101602296G>A	uc004ayz.2	+	7	1225	c.1225G>A	c.(1225-1227)GAT>AAT	p.D409N		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	409	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101807006	101807006	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101807006T>C	uc004azb.1	+							NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101824277	101824277	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101824277G>A	uc004azb.1	+	37	3633	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1143	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103002483	103002483	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103002483A>G	uc004bap.1	+	6	969	c.757A>G	c.(757-759)AAC>GAC	p.N253D	INVS_uc010mta.1_Missense_Mutation_p.N157D|INVS_uc011lve.1_Missense_Mutation_p.N157D|INVS_uc004bao.1_Missense_Mutation_p.N253D|INVS_uc004baq.1_Missense_Mutation_p.N157D|INVS_uc004bar.1_Missense_Mutation_p.N157D|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	253					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054911	103054911	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054911A>G	uc004bap.1	+	14	2584	c.2372A>G	c.(2371-2373)CAG>CGG	p.Q791R	INVS_uc011lve.1_Missense_Mutation_p.Q695R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.Q695R|INVS_uc010mtb.1_Missense_Mutation_p.Q465R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	791					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103054982	103054982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103054982C>T	uc004bap.1	+	14	2655	c.2443C>T	c.(2443-2445)CGG>TGG	p.R815W	INVS_uc011lve.1_Missense_Mutation_p.R719W|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.R719W|INVS_uc010mtb.1_Missense_Mutation_p.R489W	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
INVS	27130	broad.mit.edu	37	9	103055045	103055045	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103055045A>G	uc004bap.1	+	14	2718	c.2506A>G	c.(2506-2508)ACA>GCA	p.T836A	INVS_uc011lve.1_Missense_Mutation_p.T740A|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.T740A|INVS_uc010mtb.1_Missense_Mutation_p.T510A	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	836					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)																---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103109393	103109393	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103109393T>A	uc004bas.2	-	3	691	c.476A>T	c.(475-477)GAC>GTC	p.D159V	TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162V|TEX10_uc011lvh.1_Missense_Mutation_p.D94V|TEX10_uc004bat.2_Missense_Mutation_p.D159V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)														---	---	---	---
LPPR1	54886	broad.mit.edu	37	9	104048518	104048518	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104048518G>T	uc004bbb.2	+	4	784	c.385G>T	c.(385-387)GGG>TGG	p.G129W	LPPR1_uc011lvi.1_Missense_Mutation_p.G105W|LPPR1_uc004bbc.2_Missense_Mutation_p.G129W|LPPR1_uc010mtc.2_Missense_Mutation_p.G113W	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	129	Helical; (Potential).					integral to membrane	catalytic activity				0																		---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104312974	104312974	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104312974T>C	uc004bbn.2	+	10	1269	c.1179T>C	c.(1177-1179)AAT>AAC	p.N393N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	393					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385604	104385604	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385604T>C	uc004bbp.1	-	5	3211	c.2610A>G	c.(2608-2610)ATA>ATG	p.I870M	GRIN3A_uc004bbq.1_Missense_Mutation_p.I870M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	870	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104385638	104385638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104385638C>T	uc004bbp.1	-	5	3177	c.2576G>A	c.(2575-2577)TGC>TAC	p.C859Y	GRIN3A_uc004bbq.1_Missense_Mutation_p.C859Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	859	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767460	105767460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767460G>A	uc004bbs.2	+	5	617	c.547G>A	c.(547-549)GGA>AGA	p.G183R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	183	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106900323	106900323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:106900323A>G	uc004bbv.2	+	24	3582	c.3294A>G	c.(3292-3294)ATA>ATG	p.I1098M	SMC2_uc004bbw.2_Missense_Mutation_p.I1098M|SMC2_uc011lvl.1_Missense_Mutation_p.I1098M|SMC2_uc004bbx.2_Missense_Mutation_p.I1098M|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1098	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9																		---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266759	107266759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107266759G>A	uc011lvm.1	+	1	216	c.216G>A	c.(214-216)TGG>TGA	p.W72*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289076	107289076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289076C>T	uc011lvn.1	-	1	415	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289113	107289113	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289113G>C	uc011lvn.1	-	1	378	c.378C>G	c.(376-378)ATC>ATG	p.I126M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107361037	107361037	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107361037A>T	uc011lvp.1	-	1	658	c.658T>A	c.(658-660)TTA>ATA	p.L220I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107457074	107457074	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107457074C>A	uc011lvs.1	+	1	372	c.372C>A	c.(370-372)ATC>ATA	p.I124I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	124	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107535336	107535336	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107535336A>G	uc004bci.2	+	6	797	c.726A>G	c.(724-726)TCA>TCG	p.S242S	NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	242										pancreas(1)|skin(1)	2																		---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108382347	108382347	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108382347G>A	uc004bcr.2	+						FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Intron|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Intron	NM_001079802	NP_001073270			fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109687976	109687976	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109687976G>A	uc004bcz.2	+	3	2072	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	ZNF462_uc010mto.2_Missense_Mutation_p.A443T|ZNF462_uc004bda.2_Missense_Mutation_p.A443T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	595					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109688970	109688970	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109688970G>T	uc004bcz.2	+	3	3066	c.2777G>T	c.(2776-2778)CGG>CTG	p.R926L	ZNF462_uc010mto.2_Missense_Mutation_p.R774L|ZNF462_uc004bda.2_Missense_Mutation_p.R774L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	926	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617647	111617647	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617647G>A	uc004bdi.2	-	1	629	c.564C>T	c.(562-564)TCC>TCT	p.S188S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617817	111617817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617817A>G	uc004bdi.2	-	1	459	c.394T>C	c.(394-396)TAC>CAC	p.Y132H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	132						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625473	111625473	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625473A>G	uc004bdj.1	+	1	871	c.871A>G	c.(871-873)AAA>GAA	p.K291E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	291						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625641	111625641	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111625641G>A	uc004bdj.1	+	1	1039	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	347						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0																		---	---	---	---
C9orf6	54942	broad.mit.edu	37	9	111697919	111697919	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111697919T>C	uc004bdn.2	+	2	175	c.81T>C	c.(79-81)GAT>GAC	p.D27D	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_RNA	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	27					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)														---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111962507	111962507	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111962507A>G	uc004bdz.1	-							NM_019114	NP_061987			erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112029765	112029765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112029765T>C	uc004bdz.1	-	4	816	c.521A>G	c.(520-522)GAG>GGG	p.E174G	EPB41L4B_uc004bea.2_Missense_Mutation_p.E174G	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112225670	112225670	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112225670T>C	uc004bed.2	-	2	157	c.45A>G	c.(43-45)ATA>ATG	p.I15M	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.I15M|PTPN3_uc011lwh.1_Translation_Start_Site|PTPN3_uc004bee.3_Missense_Mutation_p.I15M	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	15					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898690	112898690	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112898690A>T	uc004bei.2	+	9	1754	c.1562A>T	c.(1561-1563)GAG>GTG	p.E521V	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E289V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E99V|AKAP2_uc011lwi.1_Missense_Mutation_p.E147V|AKAP2_uc004bem.2_Missense_Mutation_p.E147V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E107V|AKAP2_uc011lwj.1_Missense_Mutation_p.E58V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E58V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	58							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113169574	113169574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113169574C>T	uc010mtz.2	-	38	8643	c.8306G>A	c.(8305-8307)CGC>CAC	p.R2769H	SVEP1_uc010mty.2_Missense_Mutation_p.R695H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2769	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
LPAR1	1902	broad.mit.edu	37	9	113637717	113637717	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113637717T>A	uc004bfa.2	-	5	1334	c.1079A>T	c.(1078-1080)GAC>GTC	p.D360V	LPAR1_uc011lwm.1_Missense_Mutation_p.D361V|LPAR1_uc004bfb.2_Missense_Mutation_p.D360V|LPAR1_uc004bfc.2_Missense_Mutation_p.D360V|LPAR1_uc011lwn.1_Missense_Mutation_p.D342V|LPAR1_uc011lwo.1_Missense_Mutation_p.D361V|LPAR1_uc010mub.2_Missense_Mutation_p.D360V	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	360	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2																		---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114134086	114134086	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114134086A>T	uc004bfe.1	-	44	5086	c.5086T>A	c.(5086-5088)TAC>AAC	p.Y1696N		NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114305075	114305075	+	Silent	SNP	G	A	A	rs142830150		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114305075G>A	uc004bff.2	+	6	2084	c.1860G>A	c.(1858-1860)ACG>ACA	p.T620T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	620	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1																		---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114337052	114337052	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114337052G>A	uc004bfh.2	-	8	825	c.722C>T	c.(721-723)GCC>GTC	p.A241V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.A241V|PTGR1_uc004bfi.3_Missense_Mutation_p.A241V|PTGR1_uc004bfj.3_Missense_Mutation_p.A118V|PTGR1_uc010mue.2_Missense_Mutation_p.A241V	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	241	NADP.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114454706	114454706	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114454706C>A	uc004bfr.2	-	25	3494	c.3359G>T	c.(3358-3360)AGG>ATG	p.R1120M	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.R1081M|C9orf84_uc010mug.2_Missense_Mutation_p.R1031M	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1120										ovary(2)	2																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114456540	114456540	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114456540T>C	uc004bfr.2	-	23	3229	c.3094A>G	c.(3094-3096)AAA>GAA	p.K1032E	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K993E|C9orf84_uc010mug.2_Missense_Mutation_p.K943E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1032										ovary(2)	2																		---	---	---	---
HSDL2	84263	broad.mit.edu	37	9	115166290	115166290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115166290T>C	uc004bga.1	+	2	126	c.33T>C	c.(31-33)TGT>TGC	p.C11C	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Silent_p.C11C|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	11						peroxisome	oxidoreductase activity|sterol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115600867	115600867	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115600867T>A	uc004bgj.3	+	6	1052	c.904T>A	c.(904-906)TCA>ACA	p.S302T	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	302					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
SNX30	401548	broad.mit.edu	37	9	115626531	115626531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115626531C>A	uc004bgj.3	+	8	1254	c.1106C>A	c.(1105-1107)CCG>CAG	p.P369Q	SNX30_uc004bgi.3_Missense_Mutation_p.P51Q	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	369					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115931875	115931875	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115931875T>C	uc004bgs.2	-	26	3232	c.3114A>G	c.(3112-3114)CTA>CTG	p.L1038L	FKBP15_uc004bgr.2_Silent_p.L475L|FKBP15_uc011lxc.1_Silent_p.L619L|FKBP15_uc011lxd.1_Silent_p.L970L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1038					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115936846	115936846	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115936846T>C	uc004bgs.2	-	22	2359	c.2241A>G	c.(2239-2241)AAA>AAG	p.K747K	FKBP15_uc004bgr.2_Silent_p.K184K|FKBP15_uc011lxc.1_Silent_p.K328K|FKBP15_uc011lxd.1_Silent_p.K679K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	747	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115950662	115950662	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115950662T>A	uc004bgs.2	-						FKBP15_uc010muu.1_Intron|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Intron|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Intron	NM_015258	NP_056073			FK506 binding protein 15, 133kDa						endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116049018	116049018	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116049018A>G	uc004bgx.2	+	9	895	c.845A>G	c.(844-846)CAT>CGT	p.H282R	PRPF4_uc004bgy.2_Missense_Mutation_p.H281R	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	282	WD 2.			NVGAIVFH -> KKEQLHSI (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ALAD	210	broad.mit.edu	37	9	116151752	116151752	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116151752G>T	uc011lxf.1	-	10	969	c.767C>A	c.(766-768)CCC>CAC	p.P256H	ALAD_uc011lxe.1_Missense_Mutation_p.P239H|ALAD_uc004bhl.3_Missense_Mutation_p.P285H	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	256					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)													---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116263906	116263906	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116263906G>A	uc004bhq.2	+						RGS3_uc004bhr.2_Intron|RGS3_uc004bhs.2_Intron|RGS3_uc004bht.2_Missense_Mutation_p.R17H|RGS3_uc010muy.2_Missense_Mutation_p.R17H	NM_144488	NP_652759			regulator of G-protein signalling 3 isoform 6						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116359109	116359109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116359109G>A	uc004bhq.2	+	26	3682	c.3473G>A	c.(3472-3474)GGC>GAC	p.G1158D	RGS3_uc004bhs.2_Missense_Mutation_p.G1048D|RGS3_uc004bht.2_Missense_Mutation_p.G877D|RGS3_uc010muy.2_Missense_Mutation_p.G551D|RGS3_uc004bhv.2_Missense_Mutation_p.G479D|RGS3_uc004bhw.2_Missense_Mutation_p.G128D|RGS3_uc011lxh.1_Missense_Mutation_p.G468D|RGS3_uc004bhx.2_Missense_Mutation_p.G479D|RGS3_uc004bhz.2_Missense_Mutation_p.G500D|RGS3_uc004bia.2_Missense_Mutation_p.G271D	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	1158	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119414057	119414057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119414057C>T	uc004bjs.1	-	17	2923	c.2822G>A	c.(2821-2823)GGC>GAC	p.G941D	ASTN2_uc004bjr.1_Missense_Mutation_p.G937D|ASTN2_uc004bjt.1_Missense_Mutation_p.G890D|ASTN2_uc004bjp.1_Missense_Mutation_p.G34D|ASTN2_uc004bjq.1_5'UTR|ASTN2_uc011lxr.1_5'UTR|ASTN2_uc011lxs.1_5'UTR|ASTN2_uc011lxt.1_5'UTR|ASTN2_uc004bjv.1_5'UTR	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	941	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119460783	119460783	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119460783G>A	uc004bjx.2	+	2	920	c.762G>A	c.(760-762)CTG>CTA	p.L254L	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L254L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	254					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3														Bardet-Biedl_syndrome				---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119488179	119488179	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119488179G>T	uc004bjs.1	-	16	2778	c.2677C>A	c.(2677-2679)CTG>ATG	p.L893M	ASTN2_uc004bjr.1_Missense_Mutation_p.L889M|ASTN2_uc004bjt.1_Missense_Mutation_p.L842M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	893	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119582989	119582989	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119582989T>C	uc004bjs.1	-	12	2215	c.2114A>G	c.(2113-2115)GAT>GGT	p.D705G	ASTN2_uc004bjr.1_Missense_Mutation_p.D701G|ASTN2_uc004bjt.1_Missense_Mutation_p.D654G	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	705	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476261	120476261	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120476261C>T	uc004bjz.2	+	3	2146	c.1855C>T	c.(1855-1857)CCT>TCT	p.P619S	TLR4_uc004bka.2_Missense_Mutation_p.P579S|TLR4_uc004bkb.2_Missense_Mutation_p.P419S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	619	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---
DBC1	1620	broad.mit.edu	37	9	121971132	121971132	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:121971132T>C	uc004bkc.2	-	7	1466	c.1010A>G	c.(1009-1011)GAC>GGC	p.D337G		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	337					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123210340	123210340	+	Missense_Mutation	SNP	C	T	T	rs149193447	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123210340C>T	uc004bkf.2	-	22	3039	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R3H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R238H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R953H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R218H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R218H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R723H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R720H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	953	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123253685	123253685	+	Missense_Mutation	SNP	T	C	C	rs140513883		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123253685T>C	uc004bkf.2	-	13	1563	c.1382A>G	c.(1381-1383)TAC>TGC	p.Y461C	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y461C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y461C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y260C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	461					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
C5	727	broad.mit.edu	37	9	123776296	123776296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123776296G>A	uc004bkv.2	-	17	2142	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	C5_uc010mvm.1_Silent_p.C704C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	704	Anaphylatoxin-like.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
C5	727	broad.mit.edu	37	9	123782388	123782388	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123782388A>T	uc004bkv.2	-	12	1402	c.1372T>A	c.(1372-1374)TCA>ACA	p.S458T	C5_uc010mvm.1_Missense_Mutation_p.S458T|C5_uc010mvn.1_Missense_Mutation_p.S458T	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	458					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
CEP110	11064	broad.mit.edu	37	9	123920323	123920323	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123920323T>A	uc004bkx.1	+	28	4731	c.4700T>A	c.(4699-4701)GTC>GAC	p.V1567D	CEP110_uc010mvo.1_Missense_Mutation_p.V236D|CEP110_uc004blb.1_Missense_Mutation_p.V236D|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1567	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0																		---	---	---	---
GSN	2934	broad.mit.edu	37	9	124081025	124081025	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124081025G>A	uc004blf.1	+	9	1272	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	GSN_uc004bld.1_Missense_Mutation_p.G353D|GSN_uc010mvq.1_Missense_Mutation_p.G364D|GSN_uc010mvr.1_Missense_Mutation_p.G364D|GSN_uc010mvu.1_Missense_Mutation_p.G353D|GSN_uc010mvt.1_Missense_Mutation_p.G353D|GSN_uc010mvs.1_Missense_Mutation_p.G353D|GSN_uc004ble.1_Missense_Mutation_p.G353D|GSN_uc010mvv.1_Missense_Mutation_p.G353D|GSN_uc011lyh.1_Missense_Mutation_p.G370D|GSN_uc011lyi.1_Missense_Mutation_p.G353D|GSN_uc011lyj.1_Missense_Mutation_p.G377D|GSN_uc004blg.1_Missense_Mutation_p.G135D	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	404					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3																		---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124535066	124535066	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124535066C>T	uc004bln.2	+	12	2244	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DAB2IP_uc004blo.2_Silent_p.D629D|DAB2IP_uc004blp.2_Silent_p.D158D	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	753					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TTLL11	158135	broad.mit.edu	37	9	124751392	124751392	+	3'UTR	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124751392T>G	uc004blt.1	-	4					TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228			tubulin tyrosine ligase-like family, member 11						protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0																		---	---	---	---
NDUFA8	4702	broad.mit.edu	37	9	124906577	124906577	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124906577G>A	uc004blv.2	-	4	604	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	154					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)													---	---	---	---
RBM18	92400	broad.mit.edu	37	9	125009820	125009820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125009820G>A	uc004bma.2	-	4	470	c.304C>T	c.(304-306)CGA>TGA	p.R102*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	102	RRM.						nucleotide binding|RNA binding				0																		---	---	---	---
OR1L8	138881	broad.mit.edu	37	9	125330036	125330036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125330036T>C	uc004bmp.1	-	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551853	125551853	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551853G>A	uc011lzd.1	+	1	642	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551886	125551886	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125551886C>T	uc011lzd.1	+	1	675	c.675C>T	c.(673-675)ATC>ATT	p.I225I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1																		---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125562695	125562695	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125562695C>G	uc011lze.1	+	1	294	c.294C>G	c.(292-294)TGC>TGG	p.C98W		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125617543	125617543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125617543G>A	uc010mwc.1	-	15	2976	c.2735C>T	c.(2734-2736)TCC>TTC	p.S912F	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S912F|RC3H2_uc004bne.3_Missense_Mutation_p.S912F	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	912						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4																		---	---	---	---
ZBTB6	10773	broad.mit.edu	37	9	125673310	125673310	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125673310G>T	uc004bnh.2	-	2	1131	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	348	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125759568	125759568	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125759568T>C	uc011lzh.1	+	9	1266	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	378					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125836696	125836696	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125836696C>T	uc011lzh.1	+	17	2376	c.2242C>T	c.(2242-2244)CTT>TTT	p.L748F	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.L87F	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	748	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144873	126144873	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126144873C>T	uc004bnz.1	-	22	2101	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	DENND1A_uc011lzl.1_Missense_Mutation_p.R441H|DENND1A_uc004bny.1_Missense_Mutation_p.R405H|DENND1A_uc011lzm.1_Missense_Mutation_p.R634H|DENND1A_uc010mwh.1_Missense_Mutation_p.R44H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126214597	126214597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126214597T>C	uc004bnz.1	-	17	1490	c.1257A>G	c.(1255-1257)GTA>GTG	p.V419V	DENND1A_uc011lzl.1_Silent_p.V194V|DENND1A_uc004bny.1_Silent_p.V158V|DENND1A_uc011lzm.1_Silent_p.V387V|DENND1A_uc004boa.1_Silent_p.V419V|DENND1A_uc004bob.1_Silent_p.V389V|DENND1A_uc004boc.2_Silent_p.V387V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	419						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
NEK6	10783	broad.mit.edu	37	9	127110081	127110081	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127110081G>A	uc004bog.2	+	9	960	c.811G>A	c.(811-813)GGG>AGG	p.G271R	NEK6_uc004bof.2_Missense_Mutation_p.G289R|NEK6_uc004boh.2_Missense_Mutation_p.G305R|NEK6_uc010mwj.2_Missense_Mutation_p.G224R|NEK6_uc010mwk.2_Missense_Mutation_p.G271R|NEK6_uc004boi.2_Missense_Mutation_p.G271R	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	271	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3																		---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127298343	127298343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127298343T>C	uc004bor.1	-	7	1071	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	NR6A1_uc004boq.1_Missense_Mutation_p.Q293R|NR6A1_uc010mwq.1_Missense_Mutation_p.Q294R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	298					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127996243	127996243	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127996243T>G	uc004bpi.2	+	9	1276	c.1103T>G	c.(1102-1104)GTG>GGG	p.V368G	RABEPK_uc004bpj.2_Missense_Mutation_p.V317G|RABEPK_uc004bpk.2_Missense_Mutation_p.V368G|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.V368G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	368					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128067331	128067331	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128067331T>C	uc010mwx.2	+						GAPVD1_uc004bpo.2_Intron|GAPVD1_uc011lzs.1_Intron|GAPVD1_uc004bpp.2_Intron|GAPVD1_uc004bpq.2_Intron|GAPVD1_uc004bpr.2_Intron|GAPVD1_uc004bps.2_Intron|GAPVD1_uc010mwy.1_Intron	NM_015635	NP_056450			GTPase activating protein and VPS9 domains 1						endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128099736	128099736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128099736G>A	uc010mwx.2	+	17	3069	c.2743G>A	c.(2743-2745)GAC>AAC	p.D915N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D915N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D942N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D915N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D894N|GAPVD1_uc004bps.2_Missense_Mutation_p.D915N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D748N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	915					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128111746	128111746	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128111746C>A	uc010mwx.2	+	21	3627	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	GAPVD1_uc004bpp.2_Missense_Mutation_p.P1110T|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1083T|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1062T|GAPVD1_uc004bps.2_Missense_Mutation_p.P1056T|GAPVD1_uc004bpt.2_Missense_Mutation_p.P116T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1101					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128347881	128347881	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128347881C>T	uc004bpv.2	-	5	957	c.624G>A	c.(622-624)GGG>GGA	p.G208G	MAPKAP1_uc011lzt.1_Silent_p.G11G|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.G11G|MAPKAP1_uc011lzv.1_Silent_p.G11G|MAPKAP1_uc004bpw.2_Silent_p.G16G|MAPKAP1_uc004bpx.2_Silent_p.G16G|MAPKAP1_uc004bpy.2_Silent_p.G208G|MAPKAP1_uc004bpz.2_Silent_p.G208G|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.G11G|MAPKAP1_uc004bqa.2_Silent_p.G208G|MAPKAP1_uc010mxc.1_Silent_p.G80G	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	208					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4																		---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129458638C>A	uc004bqj.2	+	8	1098	c.1048C>A	c.(1048-1050)CTC>ATC	p.L350I	LMX1B_uc004bqi.2_Missense_Mutation_p.L343I|LMX1B_uc011maa.1_Missense_Mutation_p.L354I	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														Nail-Patella_Syndrome				---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129740006	129740006	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129740006T>C	uc004bqo.1	+	4	465	c.198T>C	c.(196-198)TTT>TTC	p.F66F	RALGPS1_uc011mab.1_Silent_p.F66F|RALGPS1_uc011mac.1_Silent_p.F66F|RALGPS1_uc004bqq.3_Silent_p.F66F	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	66	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130073930	130073930	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130073930C>T	uc011mae.1	+	3	636	c.235C>T	c.(235-237)CCT>TCT	p.P79S	GARNL3_uc011mad.1_Missense_Mutation_p.P57S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	79					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130083001	130083001	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130083001A>G	uc011mae.1	+	6	912	c.511A>G	c.(511-513)AAT>GAT	p.N171D	GARNL3_uc011mad.1_Missense_Mutation_p.N149D	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	171					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
RPL12	6136	broad.mit.edu	37	9	130210270	130210270	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130210270T>C	uc004bqy.1	-	6	468	c.380_splice	c.e6-1	p.G127_splice	RPL12_uc004bqx.1_Splice_Site|RPL12_uc004bqz.1_Splice_Site_p.G94_splice	NM_000976	NP_000967			ribosomal protein L12						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130219605	130219605	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130219605T>A	uc004brb.1	+	6	530	c.185T>A	c.(184-186)GTC>GAC	p.V62D	LRSAM1_uc010mxk.1_Missense_Mutation_p.V62D|LRSAM1_uc004brc.1_Missense_Mutation_p.V62D|LRSAM1_uc004brd.1_Missense_Mutation_p.V62D	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	62	LRR 2.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
PTRH1	138428	broad.mit.edu	37	9	130476504	130476504	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130476504C>A	uc004bro.2	-	5	538	c.520G>T	c.(520-522)GCC>TCC	p.A174S	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Missense_Mutation_p.R171S|PTRH1_uc011mah.1_Missense_Mutation_p.A187S|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	174					translation		aminoacyl-tRNA hydrolase activity|protein binding				0																		---	---	---	---
CDK9	1025	broad.mit.edu	37	9	130550553	130550553	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130550553C>A	uc004bse.2	+	5	616	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	165	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1																		---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131107478	131107478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131107478G>A	uc004but.2	+	3	490	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	69					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0																		---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131262534	131262534	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131262534A>T	uc011mbd.1	+	21	2801	c.2490A>T	c.(2488-2490)TGA>TGT	p.*830C	ODF2_uc004bvb.2_Nonstop_Mutation_p.*806C|ODF2_uc011mbe.1_Nonstop_Mutation_p.*825C|ODF2_uc004bvc.2_Nonstop_Mutation_p.*806C|ODF2_uc004bvd.3_Nonstop_Mutation_p.*830C|ODF2_uc004bvh.2_Nonstop_Mutation_p.*236C	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	830					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131337514	131337514	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131337514C>A	uc004bvl.3	+	5	654	c.541C>A	c.(541-543)CTG>ATG	p.L181M	SPTAN1_uc011mbg.1_Missense_Mutation_p.L181M|SPTAN1_uc011mbh.1_Missense_Mutation_p.L193M|SPTAN1_uc004bvm.3_Missense_Mutation_p.L181M|SPTAN1_uc004bvn.3_Missense_Mutation_p.L181M	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	181	Spectrin 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131387430	131387430	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131387430C>A	uc004bvl.3	+	46	6139	c.6026C>A	c.(6025-6027)TCT>TAT	p.S2009Y	SPTAN1_uc004bvm.3_Missense_Mutation_p.S2014Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1989Y|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2009	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131399212	131399212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131399212G>A	uc004bvq.1	-	3	654	c.530C>T	c.(529-531)GCC>GTC	p.A177V	WDR34_uc004bvs.1_Missense_Mutation_p.A168V|WDR34_uc004bvr.1_Missense_Mutation_p.A177V|WDR34_uc011mbi.1_Missense_Mutation_p.A60V	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	177						cytoplasm				central_nervous_system(2)|skin(1)	3																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131559484	131559484	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131559484G>T	uc010myj.2	+	7	657	c.534G>T	c.(532-534)GGG>GGT	p.G178G	TBC1D13_uc010myk.2_Silent_p.G178G|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	178	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0																		---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131591016	131591016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131591016C>T	uc004bwd.2	-	3	232	c.206G>A	c.(205-207)CGC>CAC	p.R69H	C9orf114_uc004bwe.2_Missense_Mutation_p.R69H|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	69											0																		---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670363	131670363	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131670363C>T	uc004bwl.3	+	3	1174	c.920C>T	c.(919-921)ACC>ATC	p.T307I	LRRC8A_uc010myp.2_Missense_Mutation_p.T307I|LRRC8A_uc010myq.2_Missense_Mutation_p.T307I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	307					pre-B cell differentiation	integral to membrane					0																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131741566	131741566	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131741566T>C	uc004bws.1	+	13	1251	c.1229T>C	c.(1228-1230)GTA>GCA	p.V410A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131755596	131755596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131755596T>C	uc004bws.1	+	26	2783	c.2761T>C	c.(2761-2763)TTC>CTC	p.F921L	NUP188_uc004bwu.2_Missense_Mutation_p.F264L	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	921					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131862874	131862874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131862874G>A	uc004bxh.2	-	7	1182	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	CRAT_uc004bxg.2_Silent_p.Y279Y|CRAT_uc004bxk.3_Silent_p.Y279Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	300					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)													---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131890312	131890312	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131890312C>G	uc004bxm.1	+	4	553	c.286C>G	c.(286-288)CCA>GCA	p.P96A	PPP2R4_uc004bxl.1_Intron|PPP2R4_uc011mbo.1_Missense_Mutation_p.P96A|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	96					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131897123	131897123	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131897123G>T	uc004bxm.1	+	7	882	c.615G>T	c.(613-615)GGG>GGT	p.G205G	PPP2R4_uc004bxl.1_Silent_p.G170G|PPP2R4_uc011mbo.1_Silent_p.G205G|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.G170G|PPP2R4_uc004bxo.1_Silent_p.G128G|PPP2R4_uc011mbp.1_Silent_p.G141G|PPP2R4_uc011mbq.1_Silent_p.G128G|PPP2R4_uc010mys.1_Silent_p.G135G	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	205					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
C9orf106	414318	broad.mit.edu	37	9	132084570	132084570	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132084570G>A	uc004bxs.2	+	2	531	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	hypothetical protein LOC414318	160											0		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)																---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132400113	132400113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132400113A>G	uc004byf.1	-	6	1388	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	ASB6_uc004bye.1_Missense_Mutation_p.Y333H|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.Y329H|ASB6_uc010myx.1_Missense_Mutation_p.Y379H	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	408	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)																---	---	---	---
PRRX2	51450	broad.mit.edu	37	9	132482979	132482979	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132482979C>T	uc004byh.2	+	3	779	c.552C>T	c.(550-552)ATC>ATT	p.I184I		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	184						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)																---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132569491	132569491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132569491G>A	uc004byk.1	+	3	550	c.490G>A	c.(490-492)GGT>AGT	p.G164S		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	164					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)																---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133511486	133511486	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133511486G>A	uc004bzr.1	+	18	1791	c.1683G>A	c.(1681-1683)ACG>ACA	p.T561T	FUBP3_uc004bzs.1_Silent_p.T450T	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)														---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901837	133901837	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133901837G>A	uc004caa.1	+	2	637	c.539G>A	c.(538-540)CGC>CAC	p.R180H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	180	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)														---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134305536	134305536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134305536C>T	uc004can.3	+	1	60	c.5C>T	c.(4-6)TCC>TTC	p.S2F	BAT2L1_uc004cam.1_Missense_Mutation_p.S2F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	2							protein binding				0																		---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134351905	134351905	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134351905G>A	uc004can.3	+	15	4444	c.4389G>A	c.(4387-4389)ACG>ACA	p.T1463T	BAT2L1_uc010mzj.1_Silent_p.T1046T|BAT2L1_uc004cao.3_Silent_p.T821T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1463							protein binding				0																		---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134465325	134465325	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134465325G>A	uc004cbc.2	-	16	2387	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R771C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	753	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---
MED27	9442	broad.mit.edu	37	9	134814871	134814871	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134814871A>G	uc004cbe.1	-						MED27_uc004cbf.1_Intron|MED27_uc011mco.1_Intron|MED27_uc004cbg.3_Intron	NM_004269	NP_004260			mediator complex subunit 27						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)														---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135116397	135116397	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135116397C>T	uc004cbh.2	+	7	2099	c.1323C>T	c.(1321-1323)TGC>TGT	p.C441C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	441	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
SETX	23064	broad.mit.edu	37	9	135204906	135204906	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135204906A>G	uc004cbk.2	-	10	2262	c.2079T>C	c.(2077-2079)AGT>AGC	p.S693S	SETX_uc004cbj.2_Silent_p.S312S|SETX_uc010mzt.2_Silent_p.S312S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	693					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135462883	135462883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135462883G>A	uc004cbp.1	+	2	826	c.634G>A	c.(634-636)GCC>ACC	p.A212T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)														---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554007	135554007	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135554007G>T	uc010mzv.2	+	2	1259	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	334					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)														---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135772974	135772974	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135772974G>T	uc004cca.2	-	21	2883	c.2649C>A	c.(2647-2649)GCC>GCA	p.A883A	TSC1_uc004ccb.3_Silent_p.A882A|TSC1_uc011mcq.1_Silent_p.A832A|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	883	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135786003	135786003	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135786003G>A	uc004cca.2	-	12	1452	c.1218C>T	c.(1216-1218)TAC>TAT	p.Y406Y	TSC1_uc004ccb.3_Silent_p.Y405Y|TSC1_uc011mcq.1_Silent_p.Y355Y|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.Y285Y|TSC1_uc004ccc.1_Silent_p.Y406Y	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	406					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135865239	135865239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135865239C>T	uc004ccg.2	+	6	910	c.759C>T	c.(757-759)TGC>TGT	p.C253C	GFI1B_uc010mzy.2_Silent_p.C207C	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	253	Mediates interaction with GATA1.|C2H2-type 4.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)														---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135932181	135932181	+	Missense_Mutation	SNP	G	A	A	rs144801827	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135932181G>A	uc004cci.3	+	10	1616	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	GTF3C5_uc004ccj.3_Missense_Mutation_p.G434R	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	427						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)														---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941940	135941940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135941940C>T	uc010naa.1	+	5	587	c.571C>T	c.(571-573)CAC>TAC	p.H191Y		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	188					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)														---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136198743	136198743	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136198743T>C	uc004cdb.3	-	5	1126	c.1048A>G	c.(1048-1050)ATC>GTC	p.I350V		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	350						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136402566	136402566	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136402566G>A	uc011mdl.1	+	3	687	c.130G>A	c.(130-132)GAC>AAC	p.D44N	ADAMTSL2_uc004cei.2_Missense_Mutation_p.D44N	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	44					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136412226	136412226	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136412226T>C	uc011mdl.1	+	9	1387	c.830T>C	c.(829-831)TTC>TCC	p.F277S	ADAMTSL2_uc004cei.2_Missense_Mutation_p.F277S	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	277					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136529132	136529132	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136529132G>A	uc004cep.3	-	21	2770	c.2636C>T	c.(2635-2637)TCG>TTG	p.S879L	SARDH_uc004ceo.2_Missense_Mutation_p.S879L|SARDH_uc011mdn.1_Missense_Mutation_p.S879L|SARDH_uc011mdo.1_Missense_Mutation_p.S711L|SARDH_uc004cen.2_Missense_Mutation_p.S329L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	879					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136555518	136555518	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136555518T>C	uc004cep.3	-	16	2187	c.2053A>G	c.(2053-2055)ATC>GTC	p.I685V	SARDH_uc004ceo.2_Missense_Mutation_p.I685V|SARDH_uc011mdn.1_Missense_Mutation_p.I685V|SARDH_uc011mdo.1_Missense_Mutation_p.I517V|SARDH_uc004cen.2_Missense_Mutation_p.I113V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	685					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136650998	136650998	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136650998C>T	uc004ces.2	-	17	1478	c.1432G>A	c.(1432-1434)GGC>AGC	p.G478S	VAV2_uc004cer.2_Missense_Mutation_p.G468S|VAV2_uc004cet.1_Missense_Mutation_p.G17S	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	478	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136656961	136656961	+	Missense_Mutation	SNP	G	A	A	rs142018797		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136656961G>A	uc004ces.2	-	13	1178	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	VAV2_uc004cer.2_Missense_Mutation_p.R373W|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662845	136662845	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136662845C>T	uc004ces.2	-	10	969	c.923G>A	c.(922-924)AGG>AAG	p.R308K	VAV2_uc004cer.2_Missense_Mutation_p.R303K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	308	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136901428	136901428	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136901428G>A	uc004cew.2	-	10	1850	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	554	Lys-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136918499	136918499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136918499C>T	uc004cew.2	-	2	289	c.101G>A	c.(100-102)CGC>CAC	p.R34H	BRD3_uc004cex.2_Missense_Mutation_p.R34H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	34						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)				T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137591897	137591897	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137658311	137658311	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137658311T>C	uc004cfe.2	+	22	2482	c.2100T>C	c.(2098-2100)GGT>GGC	p.G700G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	700	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137702161	137702161	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137702161A>G	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
KIAA0649	9858	broad.mit.edu	37	9	138377887	138377887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138377887C>T	uc004cfr.1	+	4	2080	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	511						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)														---	---	---	---
LCN1	3933	broad.mit.edu	37	9	138413364	138413364	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138413364C>T	uc004cfz.1	+	1	79	c.21C>T	c.(19-21)GCC>GCT	p.A7A	LCN1_uc004cga.1_Silent_p.A7A	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	7					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)														---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138588662	138588662	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138588662C>T	uc004cgl.2	-						SOHLH1_uc010nbe.2_Intron	NM_001012415	NP_001012415			spermatogenesis and oogenesis specific basic						cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)														---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138594154	138594154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138594154C>T	uc011mdq.1	+	1	124	c.50C>T	c.(49-51)GCG>GTG	p.A17V	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.A17V|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	17						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713275	138713275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713275G>A	uc004cgr.3	-	11	3232	c.3232C>T	c.(3232-3234)CCA>TCA	p.P1078S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P968S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P800S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1078						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138713714	138713714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138713714C>T	uc004cgr.3	-	11	2793	c.2793G>A	c.(2791-2793)AGG>AGA	p.R931R	CAMSAP1_uc004cgq.3_Silent_p.R821R|CAMSAP1_uc010nbg.2_Silent_p.R653R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	931						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139306576	139306576	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139306576A>G	uc004chl.2	+	2	204	c.199A>G	c.(199-201)ACC>GCC	p.T67A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.T67A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	67					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)														---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139326422	139326422	+	Missense_Mutation	SNP	C	T	T	rs112089228		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139326422C>T	uc004cho.2	-	7	1788	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	INPP5E_uc010nbm.2_Missense_Mutation_p.R467H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	468						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)														---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401094	139401094	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139401094A>G	uc004chz.2	-						NOTCH1_uc004cia.1_Intron	NM_017617	NP_060087			notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413179	139413179	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139413179G>A	uc004chz.2	-	6	963	c.963C>T	c.(961-963)TGC>TGT	p.C321C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	321	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
LCN10	414332	broad.mit.edu	37	9	139635324	139635324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139635324G>A	uc010nbq.2	-	3	459	c.400C>T	c.(400-402)CGT>TGT	p.R134C	LCN10_uc004civ.2_Missense_Mutation_p.R147C|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA			Q6JVE6	LCN10_HUMAN	SubName: Full=LCN10 protein;	134					transport	extracellular region	binding			large_intestine(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)														---	---	---	---
EDF1	8721	broad.mit.edu	37	9	139757745	139757745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139757745C>T	uc004cjt.1	-	3	314	c.286G>A	c.(286-288)GCC>ACC	p.A96T	EDF1_uc004cju.1_Missense_Mutation_p.A96T	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	96	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|H-T-H motif (Potential).				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847450	139847450	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139847450G>A	uc004ckb.2	+	2	233	c.221G>A	c.(220-222)GGC>GAC	p.G74D	LCN12_uc004ckc.2_Missense_Mutation_p.G74D	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	lipocalcin 12 precursor	74					lipid metabolic process	extracellular region	binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)														---	---	---	---
FUT7	2529	broad.mit.edu	37	9	139925299	139925299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139925299A>G	uc004ckq.2	-	2	1741	c.892T>C	c.(892-894)TTC>CTC	p.F298L	ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	298	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)														---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140055611	140055611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140055611T>C	uc004clk.2	+	9	1631	c.1301T>C	c.(1300-1302)GTG>GCG	p.V434A	GRIN1_uc004cli.1_Missense_Mutation_p.V109A|GRIN1_uc004clj.1_Missense_Mutation_p.V431A|GRIN1_uc004cll.2_Missense_Mutation_p.V434A|GRIN1_uc004clm.2_Missense_Mutation_p.V434A|GRIN1_uc004cln.2_Missense_Mutation_p.V452A|GRIN1_uc004clo.2_Missense_Mutation_p.V452A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	434	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)													---	---	---	---
ANAPC2	29882	broad.mit.edu	37	9	140082263	140082263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140082263C>T	uc004clr.1	-	2	483	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.R137H|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140127157	140127157	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140127157T>C	uc004cmf.1	+	4	490	c.304_splice	c.e4+2	p.S102_splice	SLC34A3_uc004cmc.1_Splice_Site|SLC34A3_uc004cmd.1_Splice_Site_p.S102_splice|SLC34A3_uc011met.1_Splice_Site_p.S102_splice	NM_080877	NP_543153			solute carrier family 34 (sodium phosphate),						cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)														---	---	---	---
NELF	26012	broad.mit.edu	37	9	140347525	140347525	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140347525C>T	uc004cna.2	-	9	1262	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.V141M|NELF_uc010nci.2_Missense_Mutation_p.V88M|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.V321M|NELF_uc004cmz.2_Missense_Mutation_p.V342M|NELF_uc004cnc.2_Missense_Mutation_p.V319M|NELF_uc004cnb.2_Missense_Mutation_p.V314M	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	344						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140476996C>T	uc004cno.1	-	6	905	c.683G>A	c.(682-684)TGA>TAA	p.*228*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	228						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140477035	140477035	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140477035C>T	uc004cno.1	-	6	866	c.644G>A	c.(643-645)AGG>AAG	p.R215K		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	215						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140507931	140507931	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140507931G>A	uc004cns.2	+	3	323	c.249G>A	c.(247-249)GAG>GAA	p.E83E	ARRDC1_uc004cnt.2_5'UTR|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.E46E|ARRDC1_uc004cnw.2_5'UTR|ARRDC1_uc004cnp.1_Silent_p.E83E|ARRDC1_uc004cnq.1_Silent_p.E83E|ARRDC1_uc011mfb.1_5'UTR|ARRDC1_uc004cnx.1_5'UTR|ARRDC1_uc004cny.2_5'Flank	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	83											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509383	140509383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140509383G>A	uc004cns.2	+	7	1242	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	ARRDC1_uc004cnt.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.G370R|ARRDC1_uc004cnw.2_Missense_Mutation_p.G265R|ARRDC1_uc004cnp.1_Missense_Mutation_p.G390R|ARRDC1_uc004cnq.1_Missense_Mutation_p.G372R|ARRDC1_uc011mfb.1_Missense_Mutation_p.G265R|ARRDC1_uc004cnx.1_Missense_Mutation_p.G265R|ARRDC1_uc004cny.2_Intron	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	390	Pro-rich.										0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140671153	140671153	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140671153C>T	uc011mfc.1	+	12	1912	c.1875C>T	c.(1873-1875)AGC>AGT	p.S625S	EHMT1_uc004coa.2_Silent_p.S625S|EHMT1_uc004cob.1_Silent_p.S594S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	625					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)														---	---	---	---
MIR602	693187	broad.mit.edu	37	9	140732894	140732894	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140732894C>T	hsa-mir-602|MI0003615	+			c.24C>T																				0																		---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140948380	140948380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140948380C>T	uc004cog.2	+	26	4035	c.3890C>T	c.(3889-3891)GCC>GTC	p.A1297V	CACNA1B_uc011mfd.1_Missense_Mutation_p.A827V|CACNA1B_uc004coi.2_Missense_Mutation_p.A511V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1297	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140995577	140995577	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140995577T>C	uc004cog.2	+						CACNA1B_uc004coi.2_Intron|CACNA1B_uc004cok.1_Intron|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709			calcium channel, voltage-dependent, N type,						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	94047	94047	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94047A>G	uc001ifi.2	-	4	285	c.285T>C	c.(283-285)TGT>TGC	p.C95C	TUBB8_uc009xhe.2_Silent_p.C58C|TUBB8_uc010pzs.1_Silent_p.C23C	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	95					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)														---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	294540	294540	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:294540C>A	uc010pzt.1	+	13	1920	c.1492C>A	c.(1492-1494)CTG>ATG	p.L498M	ZMYND11_uc001ifk.2_Missense_Mutation_p.L497M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L498M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L443M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L413M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L444M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L498M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L444M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L481M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L372M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L350M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	458	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	410959	410959	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:410959A>T	uc001ifp.2	-						DIP2C_uc009xhi.1_Intron|DIP2C_uc010pzz.1_Intron	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	445117	445117	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:445117C>A	uc001ifp.2	-	10	1282	c.1192G>T	c.(1192-1194)GCG>TCG	p.A398S	DIP2C_uc009xhj.1_Missense_Mutation_p.A94S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	398						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	468784	468784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:468784A>G	uc001ifp.2	-	5	674	c.584T>C	c.(583-585)GTC>GCC	p.V195A	DIP2C_uc009xhk.1_Missense_Mutation_p.S197P	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	195						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1779250	1779250	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1779250C>T	uc009xhq.2	-	1	469	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	32					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)														---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3151612	3151612	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)														---	---	---	---
KLF6	1316	broad.mit.edu	37	10	3822350	3822350	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3822350G>A	uc001iha.2	-	3	1015	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.H208Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	250	C2H2-type 2.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)														---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435860	5435860	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5435860C>T	uc001ihy.2	-	4	1001	c.961G>A	c.(961-963)GCC>ACC	p.A321T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A281T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1																		---	---	---	---
CALML5	51806	broad.mit.edu	37	10	5541029	5541029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5541029C>T	uc001iic.2	-	1	505	c.373G>A	c.(373-375)GAG>AAG	p.E125K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	125	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding				0																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5773004	5773004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5773004C>T	uc001iij.2	+	11	1667	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	348										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5798695	5798695	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5798695G>A	uc001iij.2	+	16	7351	c.6726G>A	c.(6724-6726)TTG>TTA	p.L2242L	C10orf18_uc001iik.2_Silent_p.L1086L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2242										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5828020	5828020	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5828020A>T	uc001iil.3	-						GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Intron	NM_001494	NP_001485			GDP dissociation inhibitor 2 isoform 1						protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409612	7409612	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7409612G>A	uc009xio.1	-	4	526	c.435C>T	c.(433-435)GAC>GAT	p.D145D	SFMBT2_uc001ijn.1_Silent_p.D145D|SFMBT2_uc010qay.1_Silent_p.D145D|SFMBT2_uc001ijo.1_Silent_p.D145D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	145					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7608186	7608186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7608186A>G	uc001ijq.2	-	13	2413	c.2334T>C	c.(2332-2334)AGT>AGC	p.S778S	ITIH5_uc001ijp.2_Silent_p.S564S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	778					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618800	7618800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7618800C>T	uc001ijq.2	-	10	1673	c.1594G>A	c.(1594-1596)GCC>ACC	p.A532T	ITIH5_uc001ijp.2_Missense_Mutation_p.A318T|ITIH5_uc001ijr.1_Missense_Mutation_p.A532T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	532					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A532P(1)		ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7657973	7657973	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7657973G>A	uc001ijq.2	-	7	990	c.911C>T	c.(910-912)GCT>GTT	p.A304V	ITIH5_uc001ijp.2_Missense_Mutation_p.A90V|ITIH5_uc001ijr.1_Missense_Mutation_p.A304V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	304	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7679259	7679259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7679259G>A	uc001ijq.2	-	5	663	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ITIH5_uc001ijr.1_Missense_Mutation_p.A195V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
KIN	22944	broad.mit.edu	37	10	7820934	7820934	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7820934A>G	uc001ijt.2	-	5	473	c.425T>C	c.(424-426)ATA>ACA	p.I142T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.I142T|KIN_uc010qba.1_Missense_Mutation_p.I36T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	142					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100631	8100631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8100631G>A	uc001ika.2	+	3	1162	c.605G>A	c.(604-606)CGT>CAT	p.R202H	GATA3_uc001ijz.2_Missense_Mutation_p.R202H	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	202					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22								F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13224949	13224949	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13224949T>G	uc001ima.2	+	8	1051	c.950T>G	c.(949-951)ATA>AGA	p.I317R	MCM10_uc001imb.2_Missense_Mutation_p.I316R|MCM10_uc001imc.2_Missense_Mutation_p.I316R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	317					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13481460	13481460	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13481460C>T	uc001imm.2	-	9	1416	c.1119G>A	c.(1117-1119)GGG>GGA	p.G373G	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	424							protein binding			ovary(1)|breast(1)	2																		---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13804685	13804685	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13804685A>T	uc001ims.2	-						FRMD4A_uc009xjf.1_Intron|FRMD4A_uc001imt.1_Intron|FRMD4A_uc001imu.1_Intron	NM_018027	NP_060497			FERM domain containing 4A							cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3																		---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14572484	14572484	+	5'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14572484T>A	uc001imx.1	-	2					FAM107B_uc001ina.1_Missense_Mutation_p.D167V|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_5'UTR|FAM107B_uc001imy.1_5'UTR|FAM107B_uc001imz.1_5'UTR	NM_031453	NP_113641			hypothetical protein LOC83641											breast(4)	4																		---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15210574	15210574	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15210574C>A	uc001inz.1	-	1	122	c.38G>T	c.(37-39)AGC>ATC	p.S13I	NMT2_uc001ioa.1_5'UTR|NMT2_uc009xjo.1_Missense_Mutation_p.S13I	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	13					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1																		---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15256309	15256309	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15256309G>A	uc001iob.2	-	8	1285	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	426	Cytoplasmic (Potential).					integral to membrane		p.S426R(1)		ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15883459	15883459	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15883459A>G	uc001iod.1	-	4	596	c.375T>C	c.(373-375)AGT>AGC	p.S125S	FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.S125S	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	125					apoptosis	nucleus	calcium ion binding			ovary(1)	1																		---	---	---	---
PTER	9317	broad.mit.edu	37	10	16528542	16528542	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16528542A>T	uc001iog.1	+	4	831	c.624A>T	c.(622-624)GCA>GCT	p.A208A	PTER_uc001ioh.1_Silent_p.A208A|PTER_uc001ioi.1_Silent_p.A208A|PTER_uc009xjp.1_Silent_p.A208A	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	208					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2																		---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16882941	16882941	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16882941T>C	uc001ioo.2	-	61	9821	c.9769A>G	c.(9769-9771)ATC>GTC	p.I3257V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3257	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
TRDMT1	1787	broad.mit.edu	37	10	17195517	17195517	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17195517G>A	uc001iop.2	-	10	1112	c.1064C>T	c.(1063-1065)CCT>CTT	p.P355L	TRDMT1_uc001ioq.2_Missense_Mutation_p.P331L|TRDMT1_uc001ior.2_Missense_Mutation_p.P309L|TRDMT1_uc001ios.2_Missense_Mutation_p.P284L|TRDMT1_uc009xjt.2_Missense_Mutation_p.P274L|TRDMT1_uc010qcc.1_Missense_Mutation_p.P284L|TRDMT1_uc010qcd.1_Missense_Mutation_p.P232L	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	355					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1																		---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17645651	17645651	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17645651A>T	uc001ipg.2	-						PTPLA_uc001iph.1_3'UTR	NM_014241	NP_055056			protein tyrosine phosphatase-like, member A						fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17865224	17865224	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17865224T>G	uc001ipk.2	+	2	316	c.213T>G	c.(211-213)TTT>TTG	p.F71L		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	71	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17891615	17891615	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17891615T>A	uc001ipk.2	+	7	1199	c.1096T>A	c.(1096-1098)TGG>AGG	p.W366R		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	366	Extracellular (Potential).				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18789845	18789845	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18789845A>G	uc001ipr.2	+	5	621	c.561A>G	c.(559-561)GAA>GAG	p.E187E	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.E187E|CACNB2_uc001ipt.2_Silent_p.E187E|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.E159E|CACNB2_uc001ipv.2_Silent_p.E159E|CACNB2_uc009xka.1_Silent_p.E159E|CACNB2_uc001ipw.2_Silent_p.E132E|CACNB2_uc001ipx.2_Silent_p.E132E|CACNB2_uc009xkb.1_Silent_p.E133E|CACNB2_uc010qcm.1_Silent_p.E133E|CACNB2_uc001ipz.2_Silent_p.E133E|CACNB2_uc001ipy.2_Silent_p.E133E|CACNB2_uc010qcn.1_Silent_p.E139E|CACNB2_uc010qco.1_Silent_p.E139E|CACNB2_uc001iqa.2_Silent_p.E139E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	187					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18825082	18825082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18825082A>G	uc001ipr.2	+	12	1319	c.1259A>G	c.(1258-1260)AAC>AGC	p.N420S	CACNB2_uc009xjz.1_Missense_Mutation_p.N170S|CACNB2_uc001ips.2_Missense_Mutation_p.N396S|CACNB2_uc001ipt.2_Missense_Mutation_p.N382S|CACNB2_uc001ipu.2_Missense_Mutation_p.N392S|CACNB2_uc001ipv.2_Missense_Mutation_p.N368S|CACNB2_uc009xka.1_Missense_Mutation_p.N354S|CACNB2_uc001ipw.2_Missense_Mutation_p.N327S|CACNB2_uc001ipx.2_Missense_Mutation_p.N365S|CACNB2_uc001ipz.2_Missense_Mutation_p.N342S|CACNB2_uc001ipy.2_Missense_Mutation_p.N366S|CACNB2_uc010qco.1_Missense_Mutation_p.N334S|CACNB2_uc001iqa.2_Missense_Mutation_p.N372S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	420					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18827115	18827115	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18827115T>C	uc001ipr.2	+	13	1369	c.1309T>C	c.(1309-1311)TTC>CTC	p.F437L	CACNB2_uc009xjz.1_Missense_Mutation_p.F187L|CACNB2_uc001ips.2_Missense_Mutation_p.F413L|CACNB2_uc001ipt.2_Missense_Mutation_p.F399L|CACNB2_uc001ipu.2_Missense_Mutation_p.F409L|CACNB2_uc001ipv.2_Missense_Mutation_p.F385L|CACNB2_uc009xka.1_Missense_Mutation_p.F371L|CACNB2_uc001ipw.2_Missense_Mutation_p.F344L|CACNB2_uc001ipx.2_Missense_Mutation_p.F382L|CACNB2_uc001ipz.2_Missense_Mutation_p.F359L|CACNB2_uc001ipy.2_Missense_Mutation_p.F383L|CACNB2_uc010qco.1_Missense_Mutation_p.F351L|CACNB2_uc001iqa.2_Missense_Mutation_p.F389L|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	437					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834947	18834947	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18834947G>A	uc010qcp.1	-	11	1743	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	442							methyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21134226	21134226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21134226T>A	uc001iqi.2	-	12	1585	c.1188A>T	c.(1186-1188)GAA>GAT	p.E396D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	396	Nebulin 11.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21309122	21309122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21309122G>A	uc001iqk.2	-	3	527	c.173C>T	c.(172-174)CCG>CTG	p.P58L		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22208825	22208825	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22208825T>C	uc001irc.2	-	5	858	c.571A>G	c.(571-573)AAA>GAA	p.K191E	DNAJC1_uc001ird.2_Missense_Mutation_p.K77E	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	191	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)																---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22657522	22657522	+	Silent	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22657522G>C	uc001iri.2	+	4	529	c.387G>C	c.(385-387)ACG>ACC	p.T129T	SPAG6_uc001irj.2_Silent_p.T129T|SPAG6_uc010qct.1_Silent_p.T99T|SPAG6_uc009xkh.2_Silent_p.T107T	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	129	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22676751	22676751	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22676751G>A	uc001iri.2	+	6	821	c.679_splice	c.e6-1	p.H227_splice	SPAG6_uc001irj.2_Splice_Site_p.H227_splice|SPAG6_uc010qct.1_Splice_Site_p.H197_splice|SPAG6_uc009xkh.2_Splice_Site_p.H205_splice	NM_012443	NP_036575			sperm associated antigen 6 isoform 1						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24813641	24813641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24813641T>A	uc001iru.3	+	13	3249	c.2846T>A	c.(2845-2847)TTC>TAC	p.F949Y	KIAA1217_uc001irs.2_Missense_Mutation_p.F869Y|KIAA1217_uc001irt.3_Missense_Mutation_p.F914Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.F914Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.F914Y|KIAA1217_uc001irv.1_Missense_Mutation_p.F764Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irz.2_Missense_Mutation_p.F632Y|KIAA1217_uc001irx.2_Missense_Mutation_p.F632Y|KIAA1217_uc001iry.2_Missense_Mutation_p.F632Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	949					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24908746	24908746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24908746G>A	uc001isb.2	-	9	2565	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.A693V|ARHGAP21_uc010qdc.1_Missense_Mutation_p.A528V|ARHGAP21_uc001isc.1_Missense_Mutation_p.A683V	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	692					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24909193	24909193	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24909193G>T	uc001isb.2	-	9	2118	c.1631C>A	c.(1630-1632)CCT>CAT	p.P544H	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P544H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P379H|ARHGAP21_uc001isc.1_Missense_Mutation_p.P534H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	543					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25226286	25226286	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25226286G>A	uc001ise.1	-	3	195	c.166C>T	c.(166-168)CTG>TTG	p.L56L	PRTFDC1_uc010qdd.1_Silent_p.L56L|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	56					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324093	27324093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27324093G>A	uc001ith.2	-	24	3455	c.3283C>T	c.(3283-3285)CGG>TGG	p.R1095W	ANKRD26_uc001itg.2_Missense_Mutation_p.R782W|ANKRD26_uc009xku.1_Missense_Mutation_p.R1096W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1095	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27409429	27409429	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27409429C>A	uc001iti.2	-	14	1699	c.1517G>T	c.(1516-1518)AGG>ATG	p.R506M	YME1L1_uc001itj.2_Missense_Mutation_p.R449M|YME1L1_uc010qdl.1_Missense_Mutation_p.R416M|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	506					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27475474	27475474	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27475474T>A	uc001itm.2	+	12					MASTL_uc001itl.2_3'UTR|MASTL_uc009xkw.1_3'UTR|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233			microtubule associated serine/threonine						cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3																		---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27512277	27512277	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27512277A>T	uc010qdp.1	-	5	671	c.480T>A	c.(478-480)GAT>GAA	p.D160E	ACBD5_uc010qdm.1_Missense_Mutation_p.D158E|ACBD5_uc010qdn.1_Missense_Mutation_p.D51E|ACBD5_uc010qdo.1_Missense_Mutation_p.D51E|ACBD5_uc001ito.2_Missense_Mutation_p.D125E|ACBD5_uc001itp.2_Missense_Mutation_p.D51E|ACBD5_uc001itq.2_Missense_Mutation_p.D51E|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	158					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0																		---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27688067	27688067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27688067G>A	uc001itu.2	-	4	1578	c.1460C>T	c.(1459-1461)GCA>GTA	p.A487V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	487	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28414032	28414032	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28414032A>G	uc001iua.1	-						MPP7_uc009xkz.1_Intron|MPP7_uc001iub.1_Intron|MPP7_uc009xla.2_Intron|MPP7_uc010qdv.1_Intron	NM_173496	NP_775767			palmitoylated membrane protein 7						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28878772	28878772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28878772G>A	uc001iuf.2	+	5	574	c.489G>A	c.(487-489)TGG>TGA	p.W163*	WAC_uc001iud.2_Nonsense_Mutation_p.W118*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.W118*|WAC_uc001iug.2_Nonsense_Mutation_p.W163*|WAC_uc001iuh.2_Nonsense_Mutation_p.W118*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	163					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
WAC	51322	broad.mit.edu	37	10	28903500	28903500	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28903500G>C	uc001iuf.2	+	11	1527	c.1442G>C	c.(1441-1443)AGT>ACT	p.S481T	WAC_uc001iud.2_Missense_Mutation_p.S436T|WAC_uc001iue.2_Missense_Mutation_p.S171T|WAC_uc001iug.2_Missense_Mutation_p.S378T|WAC_uc001iuh.2_Missense_Mutation_p.S433T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	481					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
BAMBI	25805	broad.mit.edu	37	10	28970330	28970330	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28970330G>A	uc001iuj.1	+	2	623	c.220G>A	c.(220-222)GCA>ACA	p.A74T	BAMBI_uc001iui.2_Missense_Mutation_p.A74T	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	74	Extracellular (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4																		---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759284	29759284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29759284T>C	uc001iut.1	-	32	6517	c.5764A>G	c.(5764-5766)ATC>GTC	p.I1922V	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.I836V|SVIL_uc001iuu.1_Missense_Mutation_p.I1496V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1922	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29788121	29788121	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29788121C>A	uc001iut.1	-	18	4341	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	SVIL_uc010qdw.1_Missense_Mutation_p.E110D|SVIL_uc001iuu.1_Missense_Mutation_p.E770D|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1196					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29811383	29811383	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29811383C>A	uc001iut.1	-	16	4098	c.3345G>T	c.(3343-3345)GAG>GAT	p.E1115D	SVIL_uc010qdw.1_Missense_Mutation_p.E13D|SVIL_uc001iuu.1_Missense_Mutation_p.E689D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1115					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316580	30316580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30316580T>C	uc001iux.2	-	2	2556	c.2497A>G	c.(2497-2499)AGT>GGT	p.S833G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S695G|KIAA1462_uc009xle.1_Missense_Mutation_p.S833G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	833										ovary(4)	4																		---	---	---	---
MAP3K8	1326	broad.mit.edu	37	10	30749657	30749657	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30749657C>T	uc001ivi.1	+	9	1992	c.1296C>T	c.(1294-1296)ACC>ACT	p.T432T	MAP3K8_uc009xlf.1_Silent_p.T432T|MAP3K8_uc001ivj.1_Silent_p.T432T	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	432			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)																---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31134156	31134156	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31134156T>C	uc010qdz.1	-	8	2656	c.2221A>G	c.(2221-2223)ATG>GTG	p.M741V	ZNF438_uc001ivn.2_Missense_Mutation_p.M692V|ZNF438_uc010qdy.1_Missense_Mutation_p.M731V|ZNF438_uc001ivo.3_Missense_Mutation_p.M305V|ZNF438_uc009xlg.2_Missense_Mutation_p.M741V|ZNF438_uc001ivp.3_Missense_Mutation_p.M731V|ZNF438_uc010qea.1_Missense_Mutation_p.M741V|ZNF438_uc010qeb.1_Missense_Mutation_p.M741V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)																---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809776	31809776	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809776A>G	uc001ivs.3	+	7	1576	c.1513A>G	c.(1513-1515)AGT>GGT	p.S505G	ZEB1_uc001ivr.3_Missense_Mutation_p.S287G|ZEB1_uc010qee.1_Missense_Mutation_p.S287G|ZEB1_uc010qef.1_Missense_Mutation_p.S287G|ZEB1_uc009xlj.1_Missense_Mutation_p.S431G|ZEB1_uc010qeg.1_Missense_Mutation_p.S364G|ZEB1_uc009xlk.1_Missense_Mutation_p.S287G|ZEB1_uc001ivt.3_Missense_Mutation_p.S287G|ZEB1_uc001ivu.3_Missense_Mutation_p.S506G|ZEB1_uc001ivv.3_Missense_Mutation_p.S485G|ZEB1_uc010qeh.1_Missense_Mutation_p.S438G|ZEB1_uc009xlo.1_Missense_Mutation_p.S488G|ZEB1_uc009xlp.2_Missense_Mutation_p.S489G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	505					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32560682	32560682	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32560682T>C	uc001iwg.1	-	14	2508	c.2238A>G	c.(2236-2238)ACA>ACG	p.T746T	EPC1_uc001iwi.3_Silent_p.T673T|EPC1_uc001iwh.1_Silent_p.T723T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	746					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)																---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33491884	33491884	+	Missense_Mutation	SNP	A	G	G	rs143549013		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33491884A>G	uc001iwx.3	-	11	2322	c.1799T>C	c.(1798-1800)GTG>GCG	p.V600A	NRP1_uc001iwv.3_Missense_Mutation_p.V600A|NRP1_uc009xlz.2_Missense_Mutation_p.V600A|NRP1_uc001iww.3_Missense_Mutation_p.V419A|NRP1_uc001iwy.3_Missense_Mutation_p.V600A|NRP1_uc001iwz.2_Missense_Mutation_p.V600A|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Missense_Mutation_p.V600A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	600	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35360229	35360229	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35360229C>T	uc001ixv.2	-	2	227	c.17G>A	c.(16-18)AGA>AAA	p.R6K	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.R25K|CUL2_uc001ixw.2_Missense_Mutation_p.R6K|CUL2_uc010qes.1_Missense_Mutation_p.R6K	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	6					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3																		---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35896548	35896548	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35896548T>C	uc001iyy.1	+	2	265	c.107T>C	c.(106-108)GTG>GCG	p.V36A		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	36	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35929473	35929473	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35929473G>A	uc001iyz.1	-	1	890	c.885C>T	c.(883-885)ACC>ACT	p.T295T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	295	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0																		---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345455	38345455	+	Silent	SNP	A	T	T	rs12242343	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38345455A>T	uc001izh.2	+	5	2578	c.2400A>T	c.(2398-2400)GGA>GGT	p.G800G	ZNF33A_uc001izg.2_Silent_p.G801G|ZNF33A_uc010qev.1_Silent_p.G807G|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	800						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089023	43089023	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089023G>T	uc001jaf.1	-	5	1490	c.1375C>A	c.(1375-1377)CAC>AAC	p.H459N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H347N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	459	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089341	43089341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43089341C>T	uc001jaf.1	-	5	1172	c.1057G>A	c.(1057-1059)GGA>AGA	p.G353R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.G241R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43325851	43325851	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43325851G>A	uc001jaj.2	+	22	3957	c.3599G>A	c.(3598-3600)CGC>CAC	p.R1200H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R1200G(1)		ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139744	44139744	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139744A>T	uc001jbb.2	-	3	765	c.576T>A	c.(574-576)GAT>GAA	p.D192E	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.D192E	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	192	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139814	44139814	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44139814C>G	uc001jbb.2	-	3	695	c.506G>C	c.(505-507)AGC>ACC	p.S169T	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.S169T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	169	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)														---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480371	45480371	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480371A>G	uc001jbo.2	+	6	618	c.484A>G	c.(484-486)ATC>GTC	p.I162V	RASSF4_uc001jbp.2_Missense_Mutation_p.I193V|RASSF4_uc009xmn.2_Missense_Mutation_p.I92V|RASSF4_uc001jbq.2_Missense_Mutation_p.I59V|RASSF4_uc001jbt.2_Missense_Mutation_p.I119V	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	162					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480399	45480399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480399G>A	uc001jbo.2	+	6	646	c.512G>A	c.(511-513)GGC>GAC	p.G171D	RASSF4_uc001jbp.2_Missense_Mutation_p.G202D|RASSF4_uc009xmn.2_Missense_Mutation_p.G101D|RASSF4_uc001jbq.2_Missense_Mutation_p.G68D|RASSF4_uc001jbt.2_Missense_Mutation_p.G128D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	171					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121968	46121968	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121968A>T	uc001jcp.3	-	7	1545	c.1303T>A	c.(1303-1305)TTG>ATG	p.L435M	ANUBL1_uc001jcl.3_Translation_Start_Site|ANUBL1_uc001jcm.3_Missense_Mutation_p.L435M|ANUBL1_uc009xmu.2_Missense_Mutation_p.L361M|ANUBL1_uc001jcn.3_Missense_Mutation_p.L361M|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	435							zinc ion binding				0																		---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389189	48389189	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48389189T>C	uc001jez.2	-	1	1803	c.1689A>G	c.(1687-1689)ACA>ACG	p.T563T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	563	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)													---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48413794	48413794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48413794G>A	uc001jfa.1	-	2	1237	c.1074C>T	c.(1072-1074)GGC>GGT	p.G358G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	358					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49420096	49420096	+	Silent	SNP	G	A	A	rs116034209	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49420096G>A	uc001jgi.2	-	13	1619	c.1512C>T	c.(1510-1512)ATC>ATT	p.I504I	FRMPD2_uc001jgh.2_Silent_p.I472I|FRMPD2_uc001jgj.2_Silent_p.I482I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49448436	49448436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49448436C>T	uc001jgi.2	-	6	774	c.667G>A	c.(667-669)GCA>ACA	p.A223T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A192T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A201T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	223					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49654565	49654565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49654565G>A	uc001jgt.2	-	10	2263	c.1966C>T	c.(1966-1968)CTG>TTG	p.L656L	ARHGAP22_uc001jgs.2_Silent_p.L566L|ARHGAP22_uc001jgu.2_Silent_p.L672L|ARHGAP22_uc010qgl.1_Silent_p.L613L|ARHGAP22_uc010qgm.1_Silent_p.L662L|ARHGAP22_uc001jgv.2_Silent_p.L354L|ARHGAP22_uc001jgr.2_Silent_p.L373L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	656	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1																		---	---	---	---
C10orf72	196740	broad.mit.edu	37	10	50227737	50227737	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50227737G>A	uc001jhf.2	-	8	950	c.921C>T	c.(919-921)AGC>AGT	p.S307S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50736484	50736484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50736484C>T	uc001jhs.3	-	4	785	c.631G>A	c.(631-633)GCC>ACC	p.A211T	PGBD3_uc009xoe.2_Missense_Mutation_p.A211T|PGBD3_uc001jhu.2_Missense_Mutation_p.A211T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	211					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16													Direct_reversal_of_damage|NER					---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819081	50819081	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50819081G>C	uc001jhw.2	+	1	735	c.295G>C	c.(295-297)GCG>CCG	p.A99P	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2																		---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50833609	50833609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50833609G>A	uc001jhz.2	+	6	996	c.843G>A	c.(841-843)CGG>CGA	p.R281R	CHAT_uc001jhv.1_Silent_p.R163R|CHAT_uc001jhx.1_Silent_p.R163R|CHAT_uc001jhy.1_Silent_p.R163R|CHAT_uc001jia.2_Silent_p.R163R|CHAT_uc010qgs.1_Silent_p.R163R	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	281					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835644	50835644	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50835644T>C	uc001jhz.2	+						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_Intron|CHAT_uc001jhy.1_Intron|CHAT_uc001jia.2_Intron|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574			choline acetyltransferase isoform 2						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---
AGAP7	653268	broad.mit.edu	37	10	51465221	51465221	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51465221A>G	uc001jio.2	-	7	1361	c.1235T>C	c.(1234-1236)GTC>GCC	p.V412A	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	412	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52071042	52071042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52071042G>A	uc001jje.2	-	9	1829	c.875C>T	c.(874-876)ACC>ATC	p.T292I	SGMS1_uc010qhk.1_Missense_Mutation_p.T123I|SGMS1_uc009xot.1_RNA	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	298	Helical; (Potential).				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2																		---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52610496	52610496	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52610496T>C	uc001jjj.2	-						A1CF_uc010qhn.1_Missense_Mutation_p.T18A|A1CF_uc001jji.2_Intron|A1CF_uc001jjh.2_Missense_Mutation_p.T18A|A1CF_uc010qho.1_Missense_Mutation_p.T18A|A1CF_uc009xov.2_Intron|A1CF_uc001jjk.1_Intron	NM_138932	NP_620310			apobec-1 complementation factor isoform 2						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1																		---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	52834553	52834553	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52834553T>C	uc001jjm.2	+						PRKG1_uc001jjn.2_Missense_Mutation_p.L68S|PRKG1_uc001jjo.2_Missense_Mutation_p.L68S|PRKG1_uc010qhp.1_Intron	NM_001098512	NP_001091982			protein kinase, cGMP-dependent, type I isoform						actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53457790	53457790	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53457790C>G	uc001jjp.2	-	1	1566	c.1520G>C	c.(1519-1521)GGT>GCT	p.G507A	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	507	2-1.|9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)														---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54530479	54530479	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54530479A>G	uc001jjt.2	-	2	320	c.255T>C	c.(253-255)TCT>TCC	p.S85S		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	85	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566537	55566537	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55566537A>G	uc010qhq.1	-	36	5246	c.4851T>C	c.(4849-4851)CCT>CCC	p.P1617P	PCDH15_uc010qhr.1_Silent_p.P1612P	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58117901	58117901	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58117901C>T	uc001jjx.1	-	9					ZWINT_uc001jjy.1_3'UTR|ZWINT_uc001jka.1_3'UTR	NM_007057	NP_008988			ZW10 interactor isoform a						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58119836	58119836	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:58119836G>T	uc001jjx.1	-	3	236	c.199C>A	c.(199-201)CTG>ATG	p.L67M	ZWINT_uc001jjy.1_Missense_Mutation_p.L67M|ZWINT_uc001jka.1_Missense_Mutation_p.L67M|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	67					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60273031	60273031	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60273031G>T	uc001jki.1	+	1	128	c.128G>T	c.(127-129)AGC>ATC	p.S43I		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	43					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60562892	60562892	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60562892G>A	uc001jki.1	+	15	2071	c.2071G>A	c.(2071-2073)GCT>ACT	p.A691T	BICC1_uc001jkj.1_Missense_Mutation_p.A332T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	691					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61014096	61014096	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61014096A>G	uc001jkn.2	-						FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Intron|FAM13C_uc010qie.1_Intron|FAM13C_uc010qif.1_Intron|FAM13C_uc001jkp.2_Silent_p.D365D	NM_198215	NP_937858			hypothetical protein LOC220965 isoform 1											ovary(2)	2																		---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61083850	61083850	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61083850A>G	uc001jkn.2	-	5	475	c.341T>C	c.(340-342)GTA>GCA	p.V114A	FAM13C_uc001jko.2_Missense_Mutation_p.V114A|FAM13C_uc010qid.1_Missense_Mutation_p.V31A|FAM13C_uc010qie.1_Missense_Mutation_p.V31A|FAM13C_uc010qif.1_Missense_Mutation_p.V136A|FAM13C_uc001jkp.2_Missense_Mutation_p.V31A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	114										ovary(2)	2																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828702	61828702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61828702G>A	uc001jky.2	-	37	12129	c.11937C>T	c.(11935-11937)AGC>AGT	p.S3979S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3979	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834285	61834285	+	Silent	SNP	G	A	A	rs116585069	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61834285G>A	uc001jky.2	-	37	6546	c.6354C>T	c.(6352-6354)CAC>CAT	p.H2118H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2118					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62652726	62652726	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62652726C>A	uc001jli.2	-	6	762	c.324G>T	c.(322-324)TCG>TCT	p.S108S	RHOBTB1_uc001jlh.2_Silent_p.S108S|RHOBTB1_uc001jlj.2_Silent_p.S108S|RHOBTB1_uc001jlk.2_Silent_p.S108S|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	108	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)																	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63188896	63188896	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63188896A>G	uc001jlo.2	-	4	762	c.393T>C	c.(391-393)GTT>GTC	p.V131V	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	131						integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64415333	64415333	+	Silent	SNP	G	A	A	rs141141483		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64415333G>A	uc001jmd.1	+	4	667	c.333G>A	c.(331-333)TCG>TCA	p.S111S	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	111										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573486	64573486	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64573486G>T	uc010qim.1	-	3	1066	c.912C>A	c.(910-912)GCC>GCA	p.A304A	EGR2_uc010qin.1_Silent_p.A254A|EGR2_uc001jmi.2_Silent_p.A304A|EGR2_uc010qio.1_Silent_p.A317A|EGR2_uc009xph.2_Silent_p.A304A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	304	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64937580	64937580	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64937580T>C	uc001jmn.2	-	23	7421	c.7121A>G	c.(7120-7122)GAC>GGC	p.D2374G	JMJD1C_uc001jml.2_Missense_Mutation_p.D2137G|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2086G|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2192G|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2192G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D281G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2374	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64944401	64944401	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64944401G>A	uc001jmn.2	-	21	7228	c.6928C>T	c.(6928-6930)CCT>TCT	p.P2310S	JMJD1C_uc001jml.2_Missense_Mutation_p.P2073S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P2022S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P2128S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P2128S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.P217S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2310	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686693	68686693	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686693A>G	uc001jmz.1	+	2	569	c.19A>G	c.(19-21)AGG>GGG	p.R7G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R7G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	7						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68686785	68686785	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68686785C>T	uc001jmz.1	+	2	661	c.111C>T	c.(109-111)GGC>GGT	p.G37G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.G37G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	37	Extracellular (Potential).|LRRNT.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979622	68979622	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68979622T>C	uc009xpn.1	-	6	709	c.586A>G	c.(586-588)AAA>GAA	p.K196E	CTNNA3_uc001jmw.2_Missense_Mutation_p.K196E|CTNNA3_uc001jmx.3_Missense_Mutation_p.K196E|CTNNA3_uc009xpo.1_Missense_Mutation_p.K56E|CTNNA3_uc001jna.2_Missense_Mutation_p.K208E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	196					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	69407206	69407206	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69407206G>A	uc009xpn.1	-	2	189	c.66C>T	c.(64-66)ACC>ACT	p.T22T	CTNNA3_uc001jmw.2_Silent_p.T22T|CTNNA3_uc001jmx.3_Silent_p.T22T|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.T34T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	22					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---
DNAJC12	56521	broad.mit.edu	37	10	69583091	69583091	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69583091A>G	uc001jnb.2	-	2	306	c.138T>C	c.(136-138)CAT>CAC	p.H46H	DNAJC12_uc001jnc.2_Silent_p.H46H	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	46	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1																		---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69948775G>A	uc001jnm.3	+	14	3002	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T	MYPN_uc001jnn.3_Silent_p.T664T|MYPN_uc001jno.3_Silent_p.T939T|MYPN_uc009xpt.2_Silent_p.T939T|MYPN_uc010qit.1_Silent_p.T645T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5																		---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70056653	70056653	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70056653G>A	uc001jns.1	-	3	377	c.174C>T	c.(172-174)AAC>AAT	p.N58N	PBLD_uc001jnr.1_Silent_p.N25N|PBLD_uc001jnt.1_Silent_p.N58N|PBLD_uc001jnu.1_Silent_p.N58N|PBLD_uc001jnv.1_Silent_p.N58N	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	58					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3																		---	---	---	---
HNRNPH3	3189	broad.mit.edu	37	10	70098890	70098890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70098890T>C	uc001jnw.3	+						HNRNPH3_uc001jnx.3_Intron|HNRNPH3_uc009xpu.2_Intron|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Intron	NM_012207	NP_036339			heterogeneous nuclear ribonucleoprotein H3						nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70138421	70138421	+	Intron	SNP	G	A	A	rs142776124	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70138421G>A	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Silent_p.N370N|RUFY2_uc010qiw.1_Silent_p.N346N	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70204764	70204764	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70204764T>C	uc001jof.2	-	8	1392	c.1392A>G	c.(1390-1392)ACA>ACG	p.T464T	DNA2_uc001jog.1_Silent_p.T378T|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	378					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0																		---	---	---	---
TET1	80312	broad.mit.edu	37	10	70404504	70404504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70404504A>T	uc001jok.3	+	4	2523	c.2018A>T	c.(2017-2019)GAC>GTC	p.D673V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	673	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70496769	70496769	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70496769G>T	uc001joo.2	+	3	329	c.210G>T	c.(208-210)CAG>CAT	p.Q70H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Missense_Mutation_p.Q70H|CCAR1_uc001jon.1_Missense_Mutation_p.A60S|CCAR1_uc010qiz.1_Missense_Mutation_p.Q70H|CCAR1_uc010qja.1_Missense_Mutation_p.Q70H|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	70					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70500386	70500386	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70500386T>C	uc001joo.2	+	5	411	c.292T>C	c.(292-294)TTA>CTA	p.L98L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Intron|CCAR1_uc001jon.1_Intron|CCAR1_uc010qiz.1_Silent_p.L83L|CCAR1_uc010qja.1_Silent_p.L83L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	98					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70645238	70645238	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70645238A>G	uc001jos.2	+	3	1773	c.1686A>G	c.(1684-1686)GAA>GAG	p.E562E	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.E452E	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	562						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71912223	71912223	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71912223G>A	uc010qjh.1	-	8					SAR1A_uc010qji.1_3'UTR|SAR1A_uc010qjj.1_3'UTR	NM_001142648	NP_001136120			SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179739	72179739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72179739C>T	uc001jrb.2	+	2	512	c.215C>T	c.(214-216)CCC>CTC	p.P72L		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	72					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72291167	72291167	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72291167C>A	uc001jrd.3	+	5	871	c.590C>A	c.(589-591)CCC>CAC	p.P197H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	197										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72297649	72297649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72297649A>G	uc001jrd.3	+	11	1591	c.1310A>G	c.(1309-1311)TAC>TGC	p.Y437C	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	437										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73377101	73377101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73377101A>G	uc001jrx.3	+	11	1462	c.1085A>G	c.(1084-1086)CAG>CGG	p.Q362R	CDH23_uc001jrw.3_Missense_Mutation_p.Q362R|CDH23_uc009xql.2_Missense_Mutation_p.Q407R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73468938	73468938	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73468938G>A	uc001jrx.3	+	26	3567	c.3190G>A	c.(3190-3192)GCC>ACC	p.A1064T	CDH23_uc001jrz.2_Missense_Mutation_p.A680T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1064	Cadherin 10.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73537513	73537513	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73537513T>C	uc001jrx.3	+	37	5299	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1641	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74692183	74692183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74692183C>T	uc001jte.1	+	9	1757	c.1539C>T	c.(1537-1539)TGC>TGT	p.C513C	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	513	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)																	---	---	---	---
ZMYND17	118490	broad.mit.edu	37	10	75185715	75185715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75185715C>T	uc001jud.2	-	5	989	c.923G>A	c.(922-924)GGC>GAC	p.G308D	ZMYND17_uc001juc.2_Missense_Mutation_p.G308D|ZMYND17_uc009xrh.2_Missense_Mutation_p.G331D|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	308							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)																	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75231343	75231343	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75231343A>G	uc001jue.2	-	5	687	c.552T>C	c.(550-552)TAT>TAC	p.Y184Y	PPP3CB_uc001juf.2_Silent_p.Y184Y|PPP3CB_uc001jug.2_Silent_p.Y184Y|PPP3CB_uc001jui.2_Silent_p.Y202Y|PPP3CB_uc001juh.2_Silent_p.Y98Y	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	184	Catalytic.									skin(1)	1	Prostate(51;0.0119)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75260443	75260443	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75260443T>C	uc001juo.2	-	21	4482	c.4465A>G	c.(4465-4467)ACC>GCC	p.T1489A	USP54_uc010qkk.1_Missense_Mutation_p.T624A|USP54_uc001juk.2_Missense_Mutation_p.T577A|USP54_uc001jul.2_Missense_Mutation_p.T530A|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1489					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75331241	75331241	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75331241T>C	uc001juo.2	-	2	195	c.178A>G	c.(178-180)AGC>GGC	p.S60G	USP54_uc001jup.2_Missense_Mutation_p.S60G|USP54_uc010qkl.1_Missense_Mutation_p.S60G	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	60					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406539	75406539	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75406539T>A	uc001jut.3	-	4	3023	c.2871A>T	c.(2869-2871)CGA>CGT	p.R957R	SYNPO2L_uc001jus.3_Silent_p.R733R	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	957						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75530709	75530709	+	Intron	SNP	G	A	A	rs143818883	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75530709G>A	uc001juw.2	+						SEC24C_uc001jux.2_Intron|SEC24C_uc010qko.1_Intron|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913			SEC24-related protein C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75555382	75555382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75555382A>G	uc009xrl.2	+	15	3011	c.2979A>G	c.(2977-2979)CTA>CTG	p.L993L	KIAA0913_uc001jve.2_Silent_p.L998L|KIAA0913_uc001jvf.2_Silent_p.L993L|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.L421L|KIAA0913_uc010qkr.1_Silent_p.L416L|KIAA0913_uc001jvj.2_Silent_p.L416L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	993							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75576871	75576871	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75576871T>C	uc001jvv.1	-	19	1448	c.1324A>G	c.(1324-1326)ATT>GTT	p.I442V	CAMK2G_uc001jvm.1_Missense_Mutation_p.I450V|CAMK2G_uc001jvo.1_Missense_Mutation_p.I421V|CAMK2G_uc001jvq.1_Missense_Mutation_p.I398V|CAMK2G_uc001jvr.1_Missense_Mutation_p.I389V|CAMK2G_uc001jvp.1_Missense_Mutation_p.I412V|CAMK2G_uc001jvs.1_Missense_Mutation_p.I433V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I390V|CAMK2G_uc009xrp.1_Missense_Mutation_p.I39V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	452					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)																	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75868743	75868743	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75868743T>C	uc001jwd.2	+	18	2668	c.2574T>C	c.(2572-2574)CTT>CTC	p.L858L	VCL_uc009xrr.2_Silent_p.L607L|VCL_uc010qky.1_Silent_p.L765L|VCL_uc001jwe.2_Silent_p.L858L|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	858	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78647281	78647281	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78647281G>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron|uc001jxp.2_5'Flank	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729727	78729727	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78729727C>T	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79556266	79556266	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79556266C>T	uc001jzk.2	-	28	5321	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M	DLG5_uc001jzi.2_Missense_Mutation_p.V506M|DLG5_uc001jzj.2_Missense_Mutation_p.V1166M|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1751	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79569349	79569349	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79569349C>T	uc001jzk.2	-	24	4673	c.4603G>A	c.(4603-4605)GCC>ACC	p.A1535T	DLG5_uc001jzi.2_Missense_Mutation_p.A290T|DLG5_uc001jzj.2_Missense_Mutation_p.A950T|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1535	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79761991	79761991	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79761991T>C	uc001jzn.2	-	17	2417	c.2323A>G	c.(2323-2325)AAC>GAC	p.N775D		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	775					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79773500	79773500	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79773500T>C	uc001jzn.2	-	11	1574	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	494					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	80968104	80968104	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:80968104T>A	uc001kaf.2	+	6	644	c.72T>A	c.(70-72)AAT>AAA	p.N24K	ZMIZ1_uc001kae.2_Missense_Mutation_p.N24K	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	24					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)															---	---	---	---
DYDC2	84332	broad.mit.edu	37	10	82126469	82126469	+	Missense_Mutation	SNP	C	T	T	rs142842576		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82126469C>T	uc001kca.1	+	5	676	c.296C>T	c.(295-297)ACG>ATG	p.T99M	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.T99M	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	99							protein binding				0			Colorectal(32;0.229)															---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82280515	82280515	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82280515A>G	uc001kcj.3	+	9					TSPAN14_uc009xss.2_3'UTR|TSPAN14_uc001kci.3_3'UTR	NM_030927	NP_112189			tetraspanin 14 isoform 1							integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)															---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85970802	85970802	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85970802G>T	uc001kcv.2	+	13	1366	c.1366G>T	c.(1366-1368)GCG>TCG	p.A456S	CDHR1_uc001kcw.2_Missense_Mutation_p.A456S|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	456	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973041	85973041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85973041G>T	uc001kcv.2	+	16	1977	c.1977G>T	c.(1975-1977)AAG>AAT	p.K659N	CDHR1_uc001kcw.2_Missense_Mutation_p.K659N|CDHR1_uc009xst.2_Missense_Mutation_p.K363N|CDHR1_uc001kcx.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	659	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373349	87373349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:87373349G>A	uc001kdl.1	-	15	2517	c.2416C>T	c.(2416-2418)CCG>TCG	p.P806S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P377S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	806	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)										Multiple Myeloma(13;0.14)			---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703005	88703005	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703005C>T	uc001kea.2	-	6	1663	c.1536G>A	c.(1534-1536)ACG>ACA	p.T512T	MMRN2_uc010qmn.1_Silent_p.T155T|MMRN2_uc009xtb.2_Silent_p.T469T	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	512						extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703232	88703232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703232G>A	uc001kea.2	-	6	1436	c.1309C>T	c.(1309-1311)CAG>TAG	p.Q437*	MMRN2_uc010qmn.1_Nonsense_Mutation_p.Q80*|MMRN2_uc009xtb.2_Nonsense_Mutation_p.Q394*	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	437	Potential.					extracellular space				large_intestine(1)	1																		---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88705404	88705404	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88705404T>C	uc001kea.2	-	2	334	c.207A>G	c.(205-207)CTA>CTG	p.L69L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	69	EMI.					extracellular space				large_intestine(1)	1																		---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88817455	88817455	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88817455C>A	uc001keh.2	-	11	1584	c.1487G>T	c.(1486-1488)AGG>ATG	p.R496M	GLUD1_uc001keg.2_Missense_Mutation_p.R329M|GLUD1_uc010qmp.1_Missense_Mutation_p.R363M	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	496					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
MINPP1	9562	broad.mit.edu	37	10	89312069	89312069	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89312069G>A	uc001keu.2	+	5	1748	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_3'UTR	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	433					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)														---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89469058	89469058	+	Missense_Mutation	SNP	G	A	A	rs142362349		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89469058G>A	uc001kex.2	+	2	396	c.133G>A	c.(133-135)GTG>ATG	p.V45M	PAPSS2_uc001kew.2_Missense_Mutation_p.V45M|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	45	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)														---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89685303	89685303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89685303G>A	uc001kfb.2	+	4	1229	c.198G>A	c.(196-198)AAG>AAA	p.K66K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	66	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R55fs*1(4)|p.K66N(3)|p.K66E(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K66fs*38(1)|p.K66Q(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692811	89692811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692811G>A	uc001kfb.2	+	6	1326	c.295G>A	c.(295-297)GAA>AAA	p.E99K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	99	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.E99*(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.E99fs*15(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692895	89692895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89692895G>A	uc001kfb.2	+	6	1410	c.379G>A	c.(379-381)GGA>AGA	p.G127R		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	127	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.G127E(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.G127V(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---
CH25H	9023	broad.mit.edu	37	10	90966740	90966740	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90966740G>A	uc001kfz.2	-	1	332	c.310C>T	c.(310-312)CTG>TTG	p.L104L		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	104	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)														---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066414	91066414	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91066414A>G	uc009xts.2	+	2	876	c.701A>G	c.(700-702)AAG>AGG	p.K234R	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	234					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)																---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92502258T>C	uc001kha.2	-	4	1664	c.1421A>G	c.(1420-1422)AAG>AGG	p.K474R	HTR7_uc001kgz.2_Silent_p.K441K|HTR7_uc001khb.2_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	474	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)													---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93242786	93242786	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93242786T>C	uc001khl.2	+	8	874	c.774T>C	c.(772-774)GCT>GCC	p.A258A	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Silent_p.A258A|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1																		---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390605	93390605	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93390605A>T	uc001kho.2	-	2	165	c.33T>A	c.(31-33)GAT>GAA	p.D11E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	11							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)																---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93602099	93602099	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93602099A>G	uc001khp.2	+	16	2307	c.2010A>G	c.(2008-2010)GTA>GTG	p.V670V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	670					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93711220	93711220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93711220G>A	uc001khr.2	+	5	559	c.461G>A	c.(460-462)GGC>GAC	p.G154D	BTAF1_uc009xua.1_RNA	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93740222	93740222	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93740222T>G	uc001khr.2	+	15	1760	c.1662T>G	c.(1660-1662)TCT>TCG	p.S554S	BTAF1_uc001khs.1_Silent_p.S224S|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	554	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94373156	94373156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94373156A>G	uc001kic.2	+	8	1120	c.812A>G	c.(811-813)AAC>AGC	p.N271S	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	271	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1																		---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Silent	SNP	C	T	T	rs75784691	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94688101C>T	uc001kig.2	+	9	960	c.894C>T	c.(892-894)GAC>GAT	p.D298D	EXOC6_uc010qnr.1_Silent_p.D314D|EXOC6_uc001kie.2_Silent_p.D293D|EXOC6_uc009xub.2_Silent_p.D298D|EXOC6_uc009xuc.2_Silent_p.D275D|EXOC6_uc001kih.2_RNA	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	298					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)																---	---	---	---
CYP26C1	340665	broad.mit.edu	37	10	94822706	94822706	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94822706A>G	uc010qns.1	+	3	659	c.659A>G	c.(658-660)AAC>AGC	p.N220S	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	220					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)																---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95079778	95079778	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95079778G>A	uc001kin.2	-						MYOF_uc001kio.2_Intron|MYOF_uc009xue.2_Intron	NM_013451	NP_038479			myoferlin isoform a						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95110997	95110997	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95110997A>G	uc001kin.2	-	35	4001	c.3878T>C	c.(3877-3879)GTC>GCC	p.V1293A	MYOF_uc001kio.2_Missense_Mutation_p.V1280A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1293	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95119640	95119640	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95119640C>A	uc001kin.2	-	29	3193	c.3070G>T	c.(3070-3072)GTC>TTC	p.V1024F	MYOF_uc001kio.2_Missense_Mutation_p.V1011F|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1024	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
TMEM20	159371	broad.mit.edu	37	10	95660549	95660549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95660549A>G	uc001kjg.1	+	3	461	c.400A>G	c.(400-402)ATT>GTT	p.I134V	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.I133V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.I117V|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	134	DUF6 1.|Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)														---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95931262	95931262	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95931262C>T	uc001kjk.2	+						PLCE1_uc010qnx.1_Intron|PLCE1_uc001kjm.2_Intron	NM_016341	NP_057425			phospholipase C, epsilon 1 isoform 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96033402	96033402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96033402A>G	uc001kjk.2	+	19	5224	c.4590A>G	c.(4588-4590)CAA>CAG	p.Q1530Q	PLCE1_uc010qnx.1_Silent_p.Q1514Q|PLCE1_uc001kjm.2_Silent_p.Q1222Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1530	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96084175G>A	uc001kjk.2	+	31	7205	c.6571G>A	c.(6571-6573)GAA>AAA	p.E2191K	PLCE1_uc010qnx.1_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.2_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2191	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96109949	96109949	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96109949A>G	uc001kjq.1	-	9	1137	c.1049T>C	c.(1048-1050)TTG>TCG	p.L350S	NOC3L_uc009xuk.1_Missense_Mutation_p.L135S	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	350						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96313922	96313922	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96313922T>C	uc001kjt.2	+	3	298	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	HELLS_uc001kjs.2_Missense_Mutation_p.Y49H|HELLS_uc009xul.2_Missense_Mutation_p.Y65H|HELLS_uc009xum.2_Missense_Mutation_p.Y65H|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.Y65H|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	65	Potential.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)														---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96535189	96535189	+	Missense_Mutation	SNP	G	A	A	rs141774245	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96535189G>A	uc010qnz.1	+	3	374	c.374G>A	c.(373-375)CGT>CAT	p.R125H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R103H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	125					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)													---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817790	97817790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817790T>C	uc001klm.2	+	6	1270	c.911T>C	c.(910-912)GTA>GCA	p.V304A	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.V315A|CCNJ_uc001kln.2_Missense_Mutation_p.V303A	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	304						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817887	97817887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97817887G>A	uc001klm.2	+	6	1367	c.1008G>A	c.(1006-1008)GGG>GGA	p.G336G	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.G347G|CCNJ_uc001kln.2_Silent_p.G335G	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	336						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98087280	98087280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98087280C>T	uc001kmf.2	+	7	1100	c.930C>T	c.(928-930)GCC>GCT	p.A310A	DNTT_uc001kmg.2_Silent_p.A310A	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	310	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)														---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98192700	98192700	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98192700T>C	uc001kml.1	-	4	610	c.384A>G	c.(382-384)ACA>ACG	p.T128T	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	128					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98303917	98303917	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98303917T>G	uc001kmm.3	-	9	1318	c.1101A>C	c.(1099-1101)CCA>CCC	p.P367P	TM9SF3_uc010qot.1_Silent_p.P367P|TM9SF3_uc001kmn.1_Silent_p.P136P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	367	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98307727	98307727	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98307727T>C	uc001kmm.3	-	8	1196	c.979A>G	c.(979-981)ACA>GCA	p.T327A	TM9SF3_uc010qot.1_Missense_Mutation_p.T327A|TM9SF3_uc001kmn.1_Missense_Mutation_p.T96A	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	327						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98355389	98355389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98355389G>T	uc001kmq.2	-	17	2491	c.2363C>A	c.(2362-2364)CCT>CAT	p.P788H	PIK3AP1_uc001kmo.2_Missense_Mutation_p.P387H|PIK3AP1_uc001kmp.2_Missense_Mutation_p.P610H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	788	Pro-rich.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---
LCOR	84458	broad.mit.edu	37	10	98714929	98714929	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98714929A>T	uc001kms.1	+	8	1073	c.552A>T	c.(550-552)GGA>GGT	p.G184G	LCOR_uc001kmr.2_Silent_p.G184G|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.G184G|LCOR_uc001kmu.1_Silent_p.G184G	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	184						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)														---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98741550	98741550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98741550A>G	uc001kmv.2	+	1	510	c.403A>G	c.(403-405)ATA>GTA	p.I135V	C10orf12_uc009xvg.1_Missense_Mutation_p.I445V	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	135										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)														---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99016073	99016073	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99016073A>G	uc001knb.2	-	6	956	c.927_splice	c.e6+1	p.K309_splice	ARHGAP19_uc001kmy.2_Splice_Site|ARHGAP19_uc001kna.2_Splice_Site_p.K300_splice|ARHGAP19_uc009xvi.2_Splice_Site|ARHGAP19_uc009xvj.2_Intron|ARHGAP19_uc009xvk.2_Splice_Site_p.K103_splice	NM_032900	NP_116289			Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)														---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99200918	99200918	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99200918T>C	uc001kni.2	-						EXOSC1_uc009xvp.1_Intron	NM_016046	NP_057130			exosomal core protein CSL4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)														---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99212269	99212269	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99212269T>C	uc001knj.2	+						ZDHHC16_uc001knp.2_Intron|ZDHHC16_uc001knk.2_Intron|ZDHHC16_uc001knl.2_Intron|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Intron|ZDHHC16_uc010qow.1_Intron|ZDHHC16_uc009xvq.2_Intron|ZDHHC16_uc001kno.2_Intron|ZDHHC16_uc009xvr.2_Intron	NM_198046	NP_932163			Abl-philin 2 isoform 1						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)														---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99236709	99236709	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99236709G>T	uc001kns.3	-	7	730	c.505C>A	c.(505-507)CTA>ATA	p.L169I	MMS19_uc009xvt.2_Missense_Mutation_p.L11I|MMS19_uc001knr.2_Missense_Mutation_p.L11I|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Missense_Mutation_p.L169I|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	169					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99327773	99327773	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99327773C>T	uc001knv.1	+	2	366	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	58											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99344676	99344676	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99344676G>A	uc010qoy.1	+						DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron	NM_018425	NP_060895			phosphatidylinositol 4-kinase type 2 alpha						phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)														---	---	---	---
C10orf62	414157	broad.mit.edu	37	10	99349971	99349971	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99349971T>A	uc001koa.2	+	1	488	c.317T>A	c.(316-318)ATC>AAC	p.I106N	DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	hypothetical protein LOC414157	106							protein binding				0		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968748	99968748	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968748G>A	uc001kow.3	+	4	1172	c.877G>A	c.(877-879)GCC>ACC	p.A293T	C10orf28_uc001kox.3_Missense_Mutation_p.A293T|C10orf28_uc001koy.3_Missense_Mutation_p.A293T|C10orf28_uc009xvx.2_Missense_Mutation_p.A293T|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	293							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
C10orf28	27291	broad.mit.edu	37	10	99968819	99968819	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99968819T>C	uc001kow.3	+	4	1243	c.948T>C	c.(946-948)TCT>TCC	p.S316S	C10orf28_uc001kox.3_Silent_p.S316S|C10orf28_uc001koy.3_Silent_p.S316S|C10orf28_uc009xvx.2_Silent_p.S316S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	316							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)														---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100157113	100157113	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100157113A>G	uc001kpc.2	-	6	700	c.614T>C	c.(613-615)CTG>CCG	p.L205P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.L205P|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	205							oxidoreductase activity			central_nervous_system(1)	1																		---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101122008	101122008	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101122008A>G	uc001kpp.3	+	4	2172	c.1883A>G	c.(1882-1884)TAC>TGC	p.Y628C	CNNM1_uc009xwe.2_Missense_Mutation_p.Y628C|CNNM1_uc010qpi.1_Missense_Mutation_p.Y628C|CNNM1_uc009xwf.2_Missense_Mutation_p.Y628C|CNNM1_uc009xwg.2_Missense_Mutation_p.Y28C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	628					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)														---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101370714	101370714	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101370714C>A	uc001kpx.2	-	4	1116	c.987G>T	c.(985-987)CAG>CAT	p.Q329H	SLC25A28_uc001kpy.2_Missense_Mutation_p.Q142H	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	329	Helical; Name=6; (Potential).|Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101445607	101445607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101445607C>A	uc001kqa.3	+	6	785	c.607C>A	c.(607-609)CTC>ATC	p.L203I	ENTPD7_uc009xwl.2_Missense_Mutation_p.L205I	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	203	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101462387	101462387	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101462387A>G	uc001kqa.3	+	12	1718	c.1540A>G	c.(1540-1542)ACG>GCG	p.T514A	ENTPD7_uc009xwl.2_Missense_Mutation_p.T516A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	514	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101728939	101728939	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101728939T>C	uc001kqj.2	-	3	293	c.201A>G	c.(199-201)GGA>GGG	p.G67G		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	67	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)														---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101835695	101835695	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101835695G>T	uc001kql.2	-	2	653	c.393C>A	c.(391-393)CCC>CCA	p.P131P		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	131	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)														---	---	---	---
POLL	27343	broad.mit.edu	37	10	103344632	103344632	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103344632A>G	uc001ktg.1	-	4	1384	c.618T>C	c.(616-618)GTT>GTC	p.V206V	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.V206V|POLL_uc001ktj.1_Silent_p.V206V|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.V206V|POLL_uc001ktl.2_Silent_p.V118V|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.L64S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	206					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103553732	103553732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103553732G>A	uc001ktv.2	-	11	2451	c.2008C>T	c.(2008-2010)CAA>TAA	p.Q670*	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Q617*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Q617*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	670	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103559054	103559054	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103559054T>C	uc001ktv.2	-	9	1797	c.1354A>G	c.(1354-1356)ACC>GCC	p.T452A	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T399A|MGEA5_uc009xws.2_Missense_Mutation_p.T399A|MGEA5_uc001ktw.2_Missense_Mutation_p.T452A|MGEA5_uc009xwt.2_Missense_Mutation_p.T215A	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	452					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)														---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103825824	103825824	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103825824G>T	uc001kuj.2	+	1	678	c.593G>T	c.(592-594)AGA>ATA	p.R198I		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	198						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										Hermansky-Pudlak_syndrome				---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103900766	103900766	+	Missense_Mutation	SNP	C	T	T	rs17855877	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103900766C>T	uc001kum.2	+	5	2540	c.2501C>T	c.(2500-2502)CCT>CTT	p.P834L	PPRC1_uc001kun.2_Missense_Mutation_p.P714L|PPRC1_uc010qqj.1_Missense_Mutation_p.P834L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	834	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908403	103908403	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908403A>G	uc001kum.2	+	11	4608	c.4569A>G	c.(4567-4569)TCA>TCG	p.S1523S	PPRC1_uc001kun.2_Silent_p.S1401S|PPRC1_uc010qqj.1_Silent_p.S1259S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1523	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908641	103908641	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103908641G>T	uc001kum.2	+	12	4724	c.4685G>T	c.(4684-4686)AGG>ATG	p.R1562M	PPRC1_uc001kun.2_Missense_Mutation_p.R1440M|PPRC1_uc010qqj.1_Missense_Mutation_p.R1298M|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1562	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103918966	103918966	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103918966A>G	uc001kuo.2	+	6	859	c.624A>G	c.(622-624)AAA>AAG	p.K208K	NOLC1_uc001kup.2_Silent_p.K208K|NOLC1_uc001kuq.2_Silent_p.K209K|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	208	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920746	103920746	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103920746C>T	uc001kuo.2	+	10	1872	c.1637C>T	c.(1636-1638)GCC>GTC	p.A546V	NOLC1_uc001kup.2_Missense_Mutation_p.A556V|NOLC1_uc001kuq.2_Missense_Mutation_p.A547V|NOLC1_uc009xxb.1_Missense_Mutation_p.A265V|NOLC1_uc001kur.2_Missense_Mutation_p.A265V	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	546	Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104118448	104118448	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104118448A>G	uc001kux.1	+	10	1213	c.973A>G	c.(973-975)AGC>GGC	p.S325G	GBF1_uc001kuw.2_Missense_Mutation_p.S325G|GBF1_uc001kuy.1_Missense_Mutation_p.S325G|GBF1_uc001kuz.1_Missense_Mutation_p.S325G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	325					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
CUEDC2	79004	broad.mit.edu	37	10	104184863	104184863	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104184863C>A	uc001kvn.2	-						CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945			CUE domain containing 2							cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
ACTR1A	10121	broad.mit.edu	37	10	104247992	104247992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104247992T>C	uc001kvv.2	-	4	338	c.230A>G	c.(229-231)CAT>CGT	p.H77R	ACTR1A_uc010qqn.1_Missense_Mutation_p.H3R|ACTR1A_uc010qqo.1_Missense_Mutation_p.H30R	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	77					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)														---	---	---	---
ARL3	403	broad.mit.edu	37	10	104445597	104445597	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104445597T>C	uc001kwa.2	-	5	635	c.477A>G	c.(475-477)TCA>TCG	p.S159S		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	159	GTP (By similarity).				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104536182	104536182	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104536182T>C	uc001kwe.3	+						C10orf26_uc001kwf.3_Intron|C10orf26_uc009xxg.1_Intron	NM_017787	NP_060257			hypothetical protein LOC54838 isoform 2							integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
C10orf26	54838	broad.mit.edu	37	10	104557771	104557771	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104557771A>G	uc001kwe.3	+	2	309	c.49A>G	c.(49-51)ACC>GCC	p.T17A	C10orf26_uc001kwf.3_Missense_Mutation_p.T38A|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	17						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104622686	104622686	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104622686A>G	uc001kwj.2	+	5	403	c.4A>G	c.(4-6)ACA>GCA	p.T2A	C10orf32_uc001kwh.2_3'UTR|C10orf32_uc001kwi.2_3'UTR	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	Error:Variant_position_missing_in_Q9HBK9_after_alignment					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679501	104679501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679501G>A	uc001kwm.2	+	1	1388	c.1264G>A	c.(1264-1266)GAT>AAT	p.D422N	CNNM2_uc001kwn.2_Missense_Mutation_p.D422N|CNNM2_uc001kwl.2_Missense_Mutation_p.D422N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	422	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104836918	104836918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104836918A>G	uc001kwm.2	+	8	2733	c.2609A>G	c.(2608-2610)CAC>CGC	p.H870R	CNNM2_uc001kwn.2_Missense_Mutation_p.H848R	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	870					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
INA	9118	broad.mit.edu	37	10	105037837	105037837	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105037837A>C	uc001kws.2	+	1	918	c.869A>C	c.(868-870)AAG>ACG	p.K290T	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.K290T	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	290	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105143129	105143129	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105143129A>G	uc001kwv.2	+						TAF5_uc010qqq.1_Intron	NM_006951	NP_008882			TBP-associated factor 5						histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105185263	105185263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105185263C>T	uc001kwy.1	+	20	3373	c.3286C>T	c.(3286-3288)CGA>TGA	p.R1096*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1096	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105203692	105203692	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105203692C>T	uc001kwy.1	+	34	5232	c.5145C>T	c.(5143-5145)AAC>AAT	p.N1715N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1715	HAT 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105677279	105677279	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105677279G>A	uc001kxl.2	-	1	149	c.74C>T	c.(73-75)GCC>GTC	p.A25V	OBFC1_uc001kxm.2_Missense_Mutation_p.A25V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	25					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)														---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761204	105761204	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105761204T>C	uc001kxo.1	+	8	901	c.867T>C	c.(865-867)CAT>CAC	p.H289H	SLK_uc001kxp.1_Silent_p.H289H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	289	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105799267	105799267	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105799267A>C	uc001kxr.2	-	43	3001	c.2832T>G	c.(2830-2832)TCT>TCG	p.S944S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	944	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815736	105815736	+	Silent	SNP	C	T	T	rs143263539		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105815736C>T	uc001kxr.2	-	18	1660	c.1491G>A	c.(1489-1491)GCG>GCA	p.A497A	COL17A1_uc010qqv.1_Silent_p.A481A	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	497	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105817937	105817937	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105817937T>A	uc001kxr.2	-	16	1403	c.1234A>T	c.(1234-1236)ACT>TCT	p.T412S	COL17A1_uc010qqv.1_Missense_Mutation_p.T396S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	412	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105903402	105903402	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105903402T>C	uc001kxw.2	-						C10orf79_uc009xxq.2_Intron	NM_025145	NP_079421			hypothetical protein LOC80217												0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105920858	105920858	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105920858T>C	uc001kxw.2	-	27	3593	c.3477A>G	c.(3475-3477)AAA>AAG	p.K1159K	C10orf79_uc009xxq.2_Silent_p.K467K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1159	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106602578	106602578	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106602578A>G	uc001kyi.1	+	2	883	c.656A>G	c.(655-657)GAC>GGC	p.D219G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	219	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)														---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108339123	108339123	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108339123G>A	uc001kym.2	-						SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_Intron|SORCS1_uc001kyo.2_Silent_p.C1125C	NM_052918	NP_443150			SORCS receptor 1 isoform a							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111642211	111642211	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111642211A>G	uc001kyp.1	-	10	1031	c.891T>C	c.(889-891)GCT>GCC	p.A297A	XPNPEP1_uc009xxt.1_Silent_p.A340A|XPNPEP1_uc001kyq.1_Silent_p.A226A|XPNPEP1_uc010qrb.1_Silent_p.A340A|XPNPEP1_uc010qra.1_Silent_p.A64A	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111876060	111876060	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111876060T>A	uc001kyt.3	+	5	692	c.378T>A	c.(376-378)GAT>GAA	p.D126E	ADD3_uc001kys.3_Missense_Mutation_p.D126E|ADD3_uc001kyu.2_Missense_Mutation_p.D126E|ADD3_uc001kyv.2_Missense_Mutation_p.D126E|ADD3_uc001kyw.2_Missense_Mutation_p.D126E	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	126						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
ADD3	120	broad.mit.edu	37	10	111879279	111879279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111879279C>T	uc001kyt.3	+	9	1231	c.917C>T	c.(916-918)GCT>GTT	p.A306V	ADD3_uc001kys.3_Missense_Mutation_p.A306V|ADD3_uc001kyu.2_Missense_Mutation_p.A306V|ADD3_uc001kyv.2_Missense_Mutation_p.A306V|ADD3_uc001kyw.2_Missense_Mutation_p.A306V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	306						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
SMNDC1	10285	broad.mit.edu	37	10	112053968	112053968	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112053968T>G	uc001kzc.3	-	6	859	c.657A>C	c.(655-657)AAA>AAC	p.K219N	SMNDC1_uc001kzb.2_Missense_Mutation_p.K140N	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	219					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)														---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112266745	112266745	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112266745C>T	uc001kzd.2	+	3	836	c.581C>T	c.(580-582)GCA>GTA	p.A194V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	194	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112349459	112349459	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112349459G>T	uc001kze.2	+	14	1528	c.1402G>T	c.(1402-1404)GAA>TAA	p.E468*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	468	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112352988	112352988	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112352988A>G	uc001kze.2	+							NM_005445	NP_005436			structural maintenance of chromosomes 3						cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112357915	112357915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112357915A>G	uc001kze.2	+	20	2261	c.2135A>G	c.(2134-2136)GAT>GGT	p.D712G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	712	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
SHOC2	8036	broad.mit.edu	37	10	112769025	112769025	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112769025A>T	uc001kzl.3	+	7	1653	c.1304A>T	c.(1303-1305)AAT>ATT	p.N435I	SHOC2_uc009xxx.2_Missense_Mutation_p.N435I|SHOC2_uc010qrg.1_Missense_Mutation_p.N74I|SHOC2_uc001kzn.2_Missense_Mutation_p.N389I	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	435	LRR 15.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115375543	115375543	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115375543C>A	uc001laj.2	-	27	3170	c.3006G>T	c.(3004-3006)AAG>AAT	p.K1002N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.K967N|NRAP_uc001lal.3_Missense_Mutation_p.K1002N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1002	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115411615	115411615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115411615C>T	uc001laj.2	-	7	786	c.622G>A	c.(622-624)GTG>ATG	p.V208M	NRAP_uc001lak.2_Missense_Mutation_p.V208M|NRAP_uc001lal.3_Missense_Mutation_p.V208M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	208	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115639443	115639443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115639443C>A	uc001lax.1	+	4	1110	c.898C>A	c.(898-900)CTT>ATT	p.L300I		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	300	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)														---	---	---	---
ADRB1	153	broad.mit.edu	37	10	115804281	115804281	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115804281C>A	uc001lba.2	+	1	476	c.390C>A	c.(388-390)TTC>TTA	p.F130L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	130	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)													---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116038533	116038533	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116038533G>A	uc001lbl.1	+	8	1077	c.756G>A	c.(754-756)GAG>GAA	p.E252E	VWA2_uc001lbk.1_Silent_p.E252E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	252						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116046101	116046101	+	Silent	SNP	C	T	T	rs145894848		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116046101C>T	uc001lbl.1	+	11	1722	c.1401C>T	c.(1399-1401)CAC>CAT	p.H467H	VWA2_uc001lbk.1_Silent_p.H467H|VWA2_uc009xyf.1_Silent_p.H163H	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	467	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116245123	116245123	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116245123C>T	uc010qsg.1	-						ABLIM1_uc010qsh.1_Missense_Mutation_p.R293H|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc010qsk.1_Intron|ABLIM1_uc009xyp.2_Missense_Mutation_p.R287H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R37H|ABLIM1_uc009xyn.2_Intron|ABLIM1_uc010qsj.1_Intron|ABLIM1_uc009xyo.2_Intron	NM_002313	NP_002304			actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)														---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116595304	116595304	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116595304G>A	uc001lcb.2	+	4	638	c.303G>A	c.(301-303)CCG>CCA	p.P101P	FAM160B1_uc001lcc.2_Silent_p.P101P	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	101										lung(1)	1																		---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116608429	116608429	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116608429A>G	uc001lcb.2	+	13	2071	c.1736A>G	c.(1735-1737)GAC>GGC	p.D579G	FAM160B1_uc001lcc.2_Missense_Mutation_p.D579G	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	579										lung(1)	1																		---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117154195	117154195	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117154195A>T	uc001lcg.2	+	20	3588	c.3202A>T	c.(3202-3204)ATC>TTC	p.I1068F	ATRNL1_uc010qsm.1_Missense_Mutation_p.I197F|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1068	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118368620	118368620	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118368620C>T	uc001lco.1	+	13	1414	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P466S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	466	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118380487	118380487	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118380487C>T	uc001lcq.2	+	1					PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387			pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118394418	118394418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118394418A>G	uc001lcq.2	+	11	910	c.887A>G	c.(886-888)AAC>AGC	p.N296S	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	295					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118439134	118439134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118439134C>T	uc001lct.2	-	10	1271	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R306H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	389							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118464750	118464750	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118464750G>A	uc001lct.2	-	3	271	c.166C>T	c.(166-168)CTC>TTC	p.L56F	HSPA12A_uc001lcu.2_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	56							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---
KIAA1598	57698	broad.mit.edu	37	10	118719729	118719729	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118719729A>G	uc009xyw.2	-	4	683	c.185T>C	c.(184-186)GTC>GCC	p.V62A	KIAA1598_uc001lcz.3_Missense_Mutation_p.V62A|KIAA1598_uc010qso.1_Missense_Mutation_p.V2A|KIAA1598_uc010qsp.1_Missense_Mutation_p.V62A|KIAA1598_uc010qsq.1_Missense_Mutation_p.V2A|KIAA1598_uc001lcy.3_Missense_Mutation_p.V32A	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	62	Potential.				axon guidance	axon					0				all cancers(201;0.00494)														---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969029	118969029	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118969029T>G	uc010qsr.1	+	3	374	c.374T>G	c.(373-375)GTC>GGC	p.V125G		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	125						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)														---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119799972	119799972	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119799972T>C	uc001ldj.1	-	2	898	c.458A>G	c.(457-459)GAC>GGC	p.D153G	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.D153G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	153					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120810101	120810101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120810101C>T	uc001ldu.2	-	16	2551	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	EIF3A_uc010qsu.1_Missense_Mutation_p.R768H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	802	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120818859	120818859	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120818859A>G	uc001ldu.2	-	11	1640	c.1494T>C	c.(1492-1494)AAT>AAC	p.N498N	EIF3A_uc010qsu.1_Silent_p.N464N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	498					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121582627	121582627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121582627C>T	uc001leo.2	+	18	2243	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	INPP5F_uc001lep.2_Nonsense_Mutation_p.R83*	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	693							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)														---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123247527	123247527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123247527T>C	uc010qtk.1	-	15	2611	c.1964A>G	c.(1963-1965)GAC>GGC	p.D655G	FGFR2_uc010qtg.1_Missense_Mutation_p.D543G|FGFR2_uc010qth.1_Missense_Mutation_p.D540G|FGFR2_uc010qti.1_Missense_Mutation_p.D566G|FGFR2_uc010qtj.1_Missense_Mutation_p.D656G|FGFR2_uc010qtl.1_Missense_Mutation_p.D539G|FGFR2_uc010qtm.1_Missense_Mutation_p.D538G|FGFR2_uc001lfl.3_Missense_Mutation_p.D656G|FGFR2_uc001lfm.2_Missense_Mutation_p.D567G|FGFR2_uc001lfg.3_Missense_Mutation_p.D263G	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	655	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123810012	123810012	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123810012A>G	uc001lfv.2	+	3	453	c.93A>G	c.(91-93)ATA>ATG	p.I31M	TACC2_uc001lfw.2_Missense_Mutation_p.I31M|TACC2_uc009xzx.2_Missense_Mutation_p.I31M|TACC2_uc010qtv.1_Missense_Mutation_p.I31M	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	31						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124248520	124248520	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124248520A>G	uc001lgj.2	+							NM_002775	NP_002766			HtrA serine peptidase 1 precursor						proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124249068	124249068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124249068G>A	uc001lgj.2	+	3	831	c.703G>A	c.(703-705)GGT>AGT	p.G235S		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	235	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124345846	124345846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358514	124358514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124358514C>T	uc001lgk.1	+	26	3287	c.3181C>T	c.(3181-3183)CGC>TGC	p.R1061C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1051C|DMBT1_uc001lgm.1_Missense_Mutation_p.R562C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061C|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1061	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124377530	124377530	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124377530T>C	uc001lgk.1	+						DMBT1_uc001lgl.1_Intron|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Intron|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568			deleted in malignant brain tumors 1 isoform b						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124396722	124396722	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124396722A>G	uc001lgk.1	+	51	6555	c.6449A>G	c.(6448-6450)GAC>GGC	p.D2150G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2140G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1522G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2149G|DMBT1_uc010qtx.1_Missense_Mutation_p.D870G|DMBT1_uc009yab.1_Missense_Mutation_p.D853G|DMBT1_uc009yac.1_Missense_Mutation_p.D444G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2150	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124712522	124712522	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124712522T>C	uc001lgw.2	-	2	416	c.191A>G	c.(190-192)AAC>AGC	p.N64S	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	64											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)														---	---	---	---
PSTK	118672	broad.mit.edu	37	10	124742347	124742347	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124742347C>T	uc001lgy.1	+	2	755	c.315C>T	c.(313-315)AAC>AAT	p.N105N		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	105							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124753312	124753312	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124753312T>C	uc001lha.2	-	5	1543	c.1244A>G	c.(1243-1245)CAA>CGA	p.Q415R	IKZF5_uc001lgz.2_Missense_Mutation_p.Q253R	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124758027	124758027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124758027C>T	uc001lha.2	-	3	414	c.115G>A	c.(115-117)GCA>ACA	p.A39T		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124897045	124897045	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124897045A>T	uc010quc.1	+	2	872	c.872A>T	c.(871-873)GAG>GTG	p.E291V		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	291					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---
OAT	4942	broad.mit.edu	37	10	126097538	126097538	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126097538A>G	uc001lhp.2	-						OAT_uc001lhq.2_Intron|OAT_uc001lhr.2_Intron	NM_000274	NP_000265			ornithine aminotransferase precursor						cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)													---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126662901	126662901	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126662901G>A	uc001lic.2	+	5	1732	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	ZRANB1_uc010qug.1_Missense_Mutation_p.G480D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	454	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126683094	126683094	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126683094G>A	uc009yak.2	-	7	1011	c.724C>T	c.(724-726)CAC>TAC	p.H242Y	CTBP2_uc009yal.2_Missense_Mutation_p.H242Y|CTBP2_uc001lif.3_Missense_Mutation_p.H242Y|CTBP2_uc001lih.3_Missense_Mutation_p.H242Y|CTBP2_uc001lid.3_Missense_Mutation_p.H310Y|CTBP2_uc001lie.3_Missense_Mutation_p.H782Y	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	242					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126716040	126716040	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126716040C>A	uc009yak.2	-						CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron|CTBP2_uc001lie.3_Missense_Mutation_p.A97S	NM_001329	NP_001320			C-terminal binding protein 2 isoform 1						negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
C10orf137	26098	broad.mit.edu	37	10	127422661	127422661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127422661T>A	uc001liq.1	+	12	1699	c.1406T>A	c.(1405-1407)ATG>AAG	p.M469K	C10orf137_uc001lin.2_Missense_Mutation_p.M435K|C10orf137_uc001lio.1_Missense_Mutation_p.M435K|C10orf137_uc001lip.1_Missense_Mutation_p.M173K|C10orf137_uc001lir.2_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127460903	127460903	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127460903A>C	uc001liu.2	-	4	863	c.863T>G	c.(862-864)GTC>GGC	p.V288G		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	288					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127685152	127685152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127685152C>T	uc001ljh.3	+	5	536	c.432C>T	c.(430-432)GGC>GGT	p.G144G	FANK1_uc009yan.2_Silent_p.G170G|FANK1_uc001lji.2_Silent_p.G138G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	144	ANK 2.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)																---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127789653G>A	uc001ljk.2	-	9	1321	c.908C>T	c.(907-909)GCG>GTG	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.2_Missense_Mutation_p.A303V|ADAM12_uc001ljn.2_Missense_Mutation_p.A300V|ADAM12_uc001ljl.3_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	303	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128797654	128797654	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128797654A>T	uc001ljt.2	+	9	868	c.804A>T	c.(802-804)TTA>TTT	p.L268F	DOCK1_uc010qun.1_Missense_Mutation_p.L268F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	268					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128908583	128908583	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128908583T>C	uc001ljt.2	+	25	2589	c.2525T>C	c.(2524-2526)ATC>ACC	p.I842T	DOCK1_uc010qun.1_Missense_Mutation_p.I863T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	842					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128974382	128974382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2																		---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901497	129901497	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901497C>T	uc001lke.2	-	13	8802	c.8607G>A	c.(8605-8607)ACG>ACA	p.T2869T	MKI67_uc001lkf.2_Silent_p.T2509T|MKI67_uc009yav.1_Silent_p.T2444T|MKI67_uc009yaw.1_Silent_p.T2019T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2869	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901518	129901518	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129901518T>C	uc001lke.2	-	13	8781	c.8586A>G	c.(8584-8586)ACA>ACG	p.T2862T	MKI67_uc001lkf.2_Silent_p.T2502T|MKI67_uc009yav.1_Silent_p.T2437T|MKI67_uc009yaw.1_Silent_p.T2012T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2862	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905845	129905845	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129905845G>C	uc001lke.2	-	13	4454	c.4259C>G	c.(4258-4260)ACA>AGA	p.T1420R	MKI67_uc001lkf.2_Missense_Mutation_p.T1060R|MKI67_uc009yav.1_Missense_Mutation_p.T995R|MKI67_uc009yaw.1_Missense_Mutation_p.T570R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1420	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129907158	129907158	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907158G>A	uc001lke.2	-	13	3141	c.2946C>T	c.(2944-2946)GGC>GGT	p.G982G	MKI67_uc001lkf.2_Silent_p.G622G|MKI67_uc009yav.1_Silent_p.G557G|MKI67_uc009yaw.1_Silent_p.G132G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	982					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131761907	131761907	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131761907G>T	uc001lki.1	-	1	185	c.126C>A	c.(124-126)GCC>GCA	p.A42A	EBF3_uc010qur.1_Silent_p.A28A	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)														---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133955535	133955535	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133955535G>A	uc001lkx.3	+	10	1585	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134017367	134017367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134017367C>T	uc009ybb.2	+	13	1717	c.1563C>T	c.(1561-1563)TCC>TCT	p.S521S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	521					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)														---	---	---	---
C10orf93	255352	broad.mit.edu	37	10	134755109	134755109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134755109A>G	uc001llt.1	-	3	368	c.292T>C	c.(292-294)TCG>CCG	p.S98P	C10orf93_uc001llu.2_Missense_Mutation_p.S98P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	98	TPR 1.						binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)														---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134898389	134898389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134898389G>A	uc001llw.2	+	8	1451	c.1451G>A	c.(1450-1452)GGG>GAG	p.G484E				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)														---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135086342	135086342	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135086342A>G	uc010qva.1	-	7	599	c.548T>C	c.(547-549)GTG>GCG	p.V183A	ADAM8_uc010quz.1_Missense_Mutation_p.V222A|ADAM8_uc009ybi.2_Missense_Mutation_p.V222A|ADAM8_uc010qvb.1_Missense_Mutation_p.V197A|ADAM8_uc009ybj.1_RNA			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	183					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135195135	135195135	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135195135G>A	uc001lmv.2	+	3	920	c.840G>A	c.(838-840)GCG>GCA	p.A280A	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.A280A|PAOX_uc001lmy.2_Silent_p.A280A|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	418					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)														---	---	---	---
RIC8A	60626	broad.mit.edu	37	11	209303	209303	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:209303A>G	uc001log.2	+	2	442	c.117A>G	c.(115-117)CAA>CAG	p.Q39Q	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.Q39Q|RIC8A_uc001loh.2_Missense_Mutation_p.N3S	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	39						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293247	293247	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293247G>T	uc010qvu.1	+						ATHL1_uc001lor.3_Intron|ATHL1_uc001los.1_Intron|ATHL1_uc001lou.3_Intron|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368			ATH1, acid trehalase-like 1						carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293611	293611	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:293611G>A	uc010qvu.1	+	10	1613	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	ATHL1_uc001lor.3_Intron|ATHL1_uc001lou.3_Missense_Mutation_p.A75T|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	500				EFDGYEPGEVVKQA -> KFQLRVPWEDFFRC (in Ref. 3; BAB15431).	carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
IFITM1	8519	broad.mit.edu	37	11	314932	314932	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:314932G>A	uc001loy.3	+	2	377	c.197G>A	c.(196-198)AGG>AAG	p.R66K		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	66	Cytoplasmic (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	582040	582040	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:582040A>G	uc001lqe.2	+	3	304	c.173A>G	c.(172-174)GAC>GGC	p.D58G	PHRF1_uc010qwc.1_Missense_Mutation_p.D58G|PHRF1_uc010qwd.1_Missense_Mutation_p.D57G|PHRF1_uc010qwe.1_Missense_Mutation_p.D54G	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	58							RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592628	592628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:592628A>G	uc001lqe.2	+	6	705	c.574A>G	c.(574-576)AGC>GGC	p.S192G	PHRF1_uc010qwc.1_Missense_Mutation_p.S192G|PHRF1_uc010qwd.1_Missense_Mutation_p.S191G|PHRF1_uc010qwe.1_Missense_Mutation_p.S188G|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	192	PHD-type.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	598394	598394	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:598394T>A	uc001lqe.2	+	9	1047	c.916T>A	c.(916-918)TCT>ACT	p.S306T	PHRF1_uc010qwc.1_Missense_Mutation_p.S306T|PHRF1_uc010qwd.1_Missense_Mutation_p.S305T|PHRF1_uc010qwe.1_Missense_Mutation_p.S302T|PHRF1_uc009ybz.1_Missense_Mutation_p.S97T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	306	Arg-rich.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	617593	617593	+	Missense_Mutation	SNP	G	C	C	rs137998609	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:617593G>C	uc001lqj.2	-	15	2401	c.2296C>G	c.(2296-2298)CGA>GGA	p.R766G	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.R572G|CDHR5_uc009ycc.2_Missense_Mutation_p.R600G|CDHR5_uc009ycd.2_Missense_Mutation_p.R760G|CDHR5_uc001lql.2_Missense_Mutation_p.R766G	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	766	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	687961	687961	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:687961A>G	uc001lqq.1	-	4	1307	c.614T>C	c.(613-615)GTA>GCA	p.V205A	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	205	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)														---	---	---	---
EPS8L2	64787	broad.mit.edu	37	11	722548	722548	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:722548C>T	uc001lqt.2	+	13	1454	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	EPS8L2_uc001lqu.2_Missense_Mutation_p.R403C|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419C|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358C|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15C|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	403						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	755935	755935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:755935G>A	uc001lqz.2	+	2	204	c.154G>A	c.(154-156)GCA>ACA	p.A52T	TALDO1_uc010qwl.1_Missense_Mutation_p.A52T|TALDO1_uc001lra.2_Missense_Mutation_p.A52T	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	52					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)														---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	866596	866596	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:866596G>A	uc001lsd.1	+	9	892	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	TSPAN4_uc001lse.1_Missense_Mutation_p.C164Y|TSPAN4_uc001lsf.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsg.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsh.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsi.1_Missense_Mutation_p.C228Y|TSPAN4_uc001lsj.1_Missense_Mutation_p.C228Y	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	228	Cytoplasmic (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
AP2A2	161	broad.mit.edu	37	11	988613	988613	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:988613G>A	uc001lss.2	+	10	1374	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	AP2A2_uc001lst.1_Missense_Mutation_p.R399H|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	398					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1027755	1027755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1027755G>A	uc001lsw.2	-	16	1962	c.1911C>T	c.(1909-1911)GGC>GGT	p.G637G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	637					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1086052	1086052	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1086052G>A	uc001lsx.1	+	22	2919	c.2892G>A	c.(2890-2892)ACG>ACA	p.T964T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093612	1093612	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1093612C>A	uc001lsx.1	+	31	12544	c.12517C>A	c.(12517-12519)CCA>ACA	p.P4173T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4173						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1155730	1155730	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1155730G>A	uc009ycr.1	+	5	544	c.418G>A	c.(418-420)GTG>ATG	p.V140M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1214834	1214834	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1214834G>A	uc009ycr.1	+						uc001lsz.2_RNA	NM_017511	NP_059981			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264269	1264269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1264269T>C	uc009ycr.1	+	47	8364	c.8238T>C	c.(8236-8238)ACT>ACC	p.T2746T	MUC5B_uc001ltb.2_Silent_p.T2056T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2053	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265019	1265019	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1265019G>A	uc009ycr.1	+	48	8949	c.8823G>A	c.(8821-8823)TCG>TCA	p.S2941S	MUC5B_uc001ltb.2_Silent_p.S2306S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2303	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1270634	1270634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1270634G>A	uc009ycr.1	+	51	14069	c.13943G>A	c.(13942-13944)CGT>CAT	p.R4648H	MUC5B_uc001ltb.2_Missense_Mutation_p.R4178H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4175	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 7.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273599	1273599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1273599C>T	uc009ycr.1	+	53	15982	c.15856C>T	c.(15856-15858)CGA>TGA	p.R5286*	MUC5B_uc001ltb.2_Nonsense_Mutation_p.R4967*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4964					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)														---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2154747	2154747	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2154747C>T	uc009yde.2	-	3	409	c.306G>A	c.(304-306)CCG>CCA	p.P102P	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.P102P|IGF2_uc009ydf.2_Silent_p.P158P|IGF2_uc001lvh.2_Silent_p.P102P|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)														---	---	---	---
TH	7054	broad.mit.edu	37	11	2186545	2186545	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2186545C>A	uc001lvq.2	-	13	1363	c.1344G>T	c.(1342-1344)GCG>GCT	p.A448A	TH_uc001lvp.2_Silent_p.A444A|TH_uc001lvr.2_Silent_p.A417A|TH_uc010qxj.1_Silent_p.A421A|TH_uc001lvs.2_Silent_p.A323A|TH_uc001lvt.2_Silent_p.A327A	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	448					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
TH	7054	broad.mit.edu	37	11	2189370	2189370	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2189370C>T	uc001lvq.2	-	5	639	c.620G>A	c.(619-621)TGT>TAT	p.C207Y	TH_uc001lvp.2_Missense_Mutation_p.C203Y|TH_uc001lvr.2_Missense_Mutation_p.C176Y|TH_uc010qxj.1_Missense_Mutation_p.C180Y|TH_uc001lvs.2_Missense_Mutation_p.C176Y|TH_uc001lvt.2_Missense_Mutation_p.C180Y|TH_uc009ydh.1_RNA	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	207					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---
CARS	833	broad.mit.edu	37	11	3048007	3048007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3048007A>G	uc001lxh.2	-	9	877	c.803T>C	c.(802-804)GTC>GCC	p.V268A	CARS_uc001lxe.2_Missense_Mutation_p.V258A|CARS_uc001lxf.2_Missense_Mutation_p.V351A|CARS_uc001lxg.2_Missense_Mutation_p.V268A|CARS_uc010qxo.1_Missense_Mutation_p.V351A|CARS_uc010qxp.1_Missense_Mutation_p.V281A|uc001lxi.1_5'Flank	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	268					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	p.V268L(1)	CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)			T	ALK	ALCL								---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3141815	3141815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3141815C>T	uc001lxk.2	-	6	600	c.442G>A	c.(442-444)GTG>ATG	p.V148M	OSBPL5_uc010qxq.1_Missense_Mutation_p.V100M|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.V172M	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	148	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)														---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249355	3249355	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3249355G>A	uc001lxq.3	-	2	982	c.672C>T	c.(670-672)CTC>CTT	p.L224L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	224	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3700923	3700923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3700923T>C	uc001lyh.2	-	31	5225	c.4934A>G	c.(4933-4935)GAG>GGG	p.E1645G	NUP98_uc001lyi.2_Missense_Mutation_p.E1571G|NUP98_uc001lyg.2_Missense_Mutation_p.E610G	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1662					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3838588G>A	uc001lys.2	+	3	297	c.171G>A	c.(169-171)ACG>ACA	p.T57T	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Silent_p.T114T|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	57					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																		---	---	---	---
PGAP2	27315	broad.mit.edu	37	11	3845574	3845574	+	Missense_Mutation	SNP	C	T	T	rs144767060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3845574C>T	uc001lys.2	+	5	802	c.676C>T	c.(676-678)CGG>TGG	p.R226W	PGAP2_uc001lyl.2_Missense_Mutation_p.R183W|PGAP2_uc010qxw.1_Missense_Mutation_p.R283W|PGAP2_uc010qxx.1_Missense_Mutation_p.A206V|PGAP2_uc001lyp.3_Missense_Mutation_p.A92V|PGAP2_uc010qxy.1_Missense_Mutation_p.R222W|PGAP2_uc010qxz.1_Missense_Mutation_p.R222W|PGAP2_uc001lyn.3_Missense_Mutation_p.A118V|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R165W|PGAP2_uc010qyb.1_Missense_Mutation_p.A168V|PGAP2_uc001lyt.2_Missense_Mutation_p.R9W	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	226					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0																OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4112932	4112932	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4112932T>A	uc001lyv.2	+	12	2530	c.1962T>A	c.(1960-1962)GCT>GCA	p.A654A	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.A481A|RRM1_uc009yeh.1_5'Flank|RRM1_uc001lyw.3_5'Flank|RRM1_uc009yei.2_5'Flank|RRM1_uc010qyc.1_5'Flank	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	654	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)														---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4139675	4139675	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4139675G>A	uc001lyw.3	+	8	1095	c.776G>A	c.(775-777)GGC>GAC	p.G259D	RRM1_uc009yej.2_RNA|RRM1_uc009yeh.1_Missense_Mutation_p.G162D|RRM1_uc009yei.2_Missense_Mutation_p.G219D|RRM1_uc010qyc.1_Missense_Mutation_p.G162D|RRM1_uc010qyd.1_5'UTR	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	259					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)													---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4409705T>C	uc001lyy.1	-	4	673	c.560A>G	c.(559-561)AAC>AGC	p.N187S		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	187	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4410964	4410964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4410964C>T	uc001lyy.1	-	3	537	c.424G>A	c.(424-426)GCA>ACA	p.A142T		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	142	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4511027	4511027	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4511027G>A	uc001lza.1	+	1	897	c.897G>A	c.(895-897)AAG>AAA	p.K299K		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615383	4615383	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4615383T>C	uc010qyi.1	+	1	115	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4621846	4621846	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4621846C>A	uc001lzf.1	-	7	1356	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	TRIM68_uc001lzg.1_Missense_Mutation_p.G150V|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	373	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825366	4825366	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825366G>T	uc010qym.1	-	1	482	c.482C>A	c.(481-483)CCT>CAT	p.P161H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4870066	4870066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4870066C>T	uc010qyo.1	-	1	373	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903898	4903898	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4903898C>A	uc010qyp.1	+	1	850	c.850C>A	c.(850-852)CTG>ATG	p.L284M		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945098	4945098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4945098T>C	uc010qyr.1	-	1	472	c.472A>G	c.(472-474)ATC>GTC	p.I158V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967485	4967485	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4967485T>C	uc010qys.1	-	1	846	c.846A>G	c.(844-846)CTA>CTG	p.L282L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51A2	401667	broad.mit.edu	37	11	4976522	4976522	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4976522A>T	uc010qyt.1	-	1	422	c.422T>A	c.(421-423)GTC>GAC	p.V141D		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5009533	5009533	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5009533T>C	uc001lzv.2	+	1	110	c.92T>C	c.(91-93)TTT>TCT	p.F31S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	31					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5013200	5013200	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5013200A>T	uc001lzv.2	+	5	620	c.602A>T	c.(601-603)AAT>ATT	p.N201I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	201					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020602	5020602	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5020602T>C	uc010qyu.1	+	1	390	c.390T>C	c.(388-390)CAT>CAC	p.H130H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142602	5142602	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5142602C>T	uc001lzz.1	-	1	207	c.207G>A	c.(205-207)ACG>ACA	p.T69T	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221892	5221892	+	Silent	SNP	A	G	G	rs145244038		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5221892A>G	uc010qyz.1	-	1	39	c.39T>C	c.(37-39)CCT>CCC	p.P13P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5444364	5444364	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5444364A>G	uc010qzd.1	+	1	934	c.934A>G	c.(934-936)AAA>GAA	p.K312E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510093	5510093	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5510093G>T	uc010qzg.1	+	1	157	c.157G>T	c.(157-159)GCC>TCC	p.A53S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530154	5530154	+	Missense_Mutation	SNP	T	C	C	rs141351264		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5530154T>C	uc001may.1	-	2	721	c.635A>G	c.(634-636)AAC>AGC	p.N212S	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	212										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602252	5602252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602252T>A	uc010qzi.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602389	5602389	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602389A>G	uc010qzi.1	+	1	283	c.283A>G	c.(283-285)ACC>GCC	p.T95A	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602413	5602413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5602413G>A	uc010qzi.1	+	1	307	c.307G>A	c.(307-309)GCC>ACC	p.A103T	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	103	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5626558	5626558	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5626558T>C	uc001mbc.1	+						HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Intron|TRIM6_uc001mbg.1_5'UTR|TRIM6_uc009yep.1_5'Flank	NM_058166	NP_477514			tripartite motif-containing 6 isoform 2						protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)												OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5700312	5700312	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5700312A>G	uc001mbm.1	-	3	762	c.505T>C	c.(505-507)TCC>CCC	p.S169P	TRIM5_uc001mbq.1_Missense_Mutation_p.S169P|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S169P|TRIM5_uc001mbo.2_Missense_Mutation_p.S169P|TRIM5_uc001mbp.2_Missense_Mutation_p.S169P	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	169	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)														---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905954	5905954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905954T>C	uc010qzs.1	+	1	432	c.432T>C	c.(430-432)AGT>AGC	p.S144S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007329	6007329	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007329G>T	uc001mcd.2	-	1	887	c.832C>A	c.(832-834)CTC>ATC	p.L278I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	278	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048082	6048082	+	Missense_Mutation	SNP	C	T	T	rs139101039	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6048082C>T	uc010qzw.1	-	1	853	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6239971	6239971	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6239971C>T	uc001mcl.3	-	8	1653	c.1294G>A	c.(1294-1296)GTT>ATT	p.V432I	FAM160A2_uc001mck.3_Missense_Mutation_p.V432I|FAM160A2_uc001mcm.2_Missense_Mutation_p.V432I	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	432					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6292256	6292256	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6292256A>G	uc001mcp.2	+	5	1020	c.827A>G	c.(826-828)AAC>AGC	p.N276S	CCKBR_uc001mcq.2_Missense_Mutation_p.N204S|CCKBR_uc001mcr.2_Missense_Mutation_p.N276S|CCKBR_uc001mcs.2_Missense_Mutation_p.N345S|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	276	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)													---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6486843	6486843	+	Missense_Mutation	SNP	C	T	T	rs146379181		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6486843C>T	uc001mdh.2	-	3	470	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	TRIM3_uc001mdi.2_Missense_Mutation_p.R28Q|TRIM3_uc010raj.1_Intron|TRIM3_uc009yfd.2_Missense_Mutation_p.R28Q|TRIM3_uc010rak.1_Missense_Mutation_p.R28Q|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	28	RING-type.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
TPP1	1200	broad.mit.edu	37	11	6638383	6638383	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6638383C>T	uc001mel.1	-	6	571	c.510G>A	c.(508-510)GTG>GTA	p.V170V	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	170					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)														---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661560	6661560	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6661560G>A	uc001mem.1	-	2	1695	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	429	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6806618	6806618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6806618T>C	uc001mer.1	+	1	350	c.350T>C	c.(349-351)TTC>TCC	p.F117S		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891104	6891104	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6891104C>A	uc001meu.1	+	1	119	c.119C>A	c.(118-120)CCC>CAC	p.P40H		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	40	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021635	7021635	+	Missense_Mutation	SNP	A	T	T	rs113759066		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7021635A>T	uc001mfa.2	-	3	1582	c.1279T>A	c.(1279-1281)TCA>ACA	p.S427T	ZNF214_uc010ray.1_Missense_Mutation_p.S427T|ZNF214_uc009yfh.1_Missense_Mutation_p.S427T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	427	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)														---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7081168	7081168	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7081168T>A	uc001mfb.1	+	9	3000	c.2677T>A	c.(2677-2679)TCA>ACA	p.S893T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	893	LRR 6.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7439228	7439228	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7439228A>T	uc001mfe.2	+	5	1443	c.1206A>T	c.(1204-1206)CGA>CGT	p.R402R	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	402	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7631603	7631603	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7631603G>A	uc001mfj.3	+	6	956	c.568G>A	c.(568-570)GGC>AGC	p.G190S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.G113S|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.G113S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.G32S|PPFIBP2_uc010rbe.1_Missense_Mutation_p.G78S|PPFIBP2_uc001mfl.3_Missense_Mutation_p.G47S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	190	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7672093	7672093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7672093T>C	uc001mfj.3	+	22	2532	c.2144T>C	c.(2143-2145)GTT>GCT	p.V715A	PPFIBP2_uc010rbb.1_Missense_Mutation_p.V638A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.V649A|PPFIBP2_uc010rbe.1_Missense_Mutation_p.V603A|PPFIBP2_uc001mfl.3_Missense_Mutation_p.V572A|PPFIBP2_uc009yfj.1_Missense_Mutation_p.V359A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	715					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)														---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7686758	7686758	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7686758G>T	uc001mfm.2	-	9	916	c.678C>A	c.(676-678)GGC>GGA	p.G226G	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.G226G	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	226					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)												OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7693999	7693999	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7693999G>A	uc001mfm.2	-	2	296	c.58C>T	c.(58-60)CTG>TTG	p.L20L	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.L20L|CYB5R2_uc009yfl.1_Silent_p.L20L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	20	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817752	7817752	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7817752C>T	uc001mfp.1	-	1	738	c.738G>A	c.(736-738)CTG>CTA	p.L246L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
OR5P3	120066	broad.mit.edu	37	11	7846735	7846735	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7846735G>T	uc010rbg.1	-	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161632	8161632	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8161632T>C	uc001mgd.2	-	2	287	c.233A>G	c.(232-234)AAG>AGG	p.K78R	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78R|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28R|RIC3_uc010rbm.1_Missense_Mutation_p.K78R|RIC3_uc009yfm.2_Missense_Mutation_p.K78R|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78R	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
LMO1	4004	broad.mit.edu	37	11	8251944	8251944	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8251944G>A	uc001mgg.1	-	2	630	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.H44Y	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	45	LIM zinc-binding 1.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)				T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							---	---	---	---
RPL27A	6157	broad.mit.edu	37	11	8706989	8706989	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8706989G>A	uc001mgs.3	+						SNORA45_uc001mgr.1_RNA	NM_000990	NP_000981			ribosomal protein L27a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
C11orf17	56672	broad.mit.edu	37	11	8940962	8940962	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8940962A>G	uc001mgx.2	+	6	644	c.568A>G	c.(568-570)ACC>GCC	p.T190A	C11orf17_uc001mgz.2_Missense_Mutation_p.T163A|C11orf17_uc001mgy.2_Missense_Mutation_p.T163A|C11orf17_uc001mha.2_Missense_Mutation_p.T190A	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	chromosome 11 open reading frame 17	190						nucleus	protein binding				0				Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9077338	9077338	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9077338A>G	uc001mhh.1	-	10	1287	c.1207_splice	c.e10+1	p.D403_splice	SCUBE2_uc001mhi.1_Splice_Site_p.D403_splice|SCUBE2_uc001mhj.1_Splice_Site_p.D403_splice	NM_020974	NP_066025			CEGP1 protein precursor							extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9879811	9879811	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9879811C>A	uc001mib.2	-	18	2200	c.2062G>T	c.(2062-2064)GCC>TCC	p.A688S	SBF2_uc001mif.3_Missense_Mutation_p.A444S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	688					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9989942	9989942	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9989942G>C	uc001mib.2	-	14	1684	c.1546C>G	c.(1546-1548)CCT>GCT	p.P516A	SBF2_uc001mif.3_Missense_Mutation_p.P272A|SBF2_uc001mih.3_Missense_Mutation_p.P45A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	516					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
LYVE1	10894	broad.mit.edu	37	11	10585563	10585563	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10585563C>T	uc001miv.2	-	3	607	c.321G>A	c.(319-321)GGG>GGA	p.G107G	uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	107	Link.|Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)														---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10823150	10823150	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10823150G>A	uc001mjc.2	-						EIF4G2_uc001mjb.2_Intron|EIF4G2_uc009ygf.2_Intron|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.2_RNA	NM_001418	NP_001409			eukaryotic translation initiation factor 4						cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
USP47	55031	broad.mit.edu	37	11	11944340	11944340	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:11944340A>T	uc001mjq.1	+	12	2111	c.1348A>T	c.(1348-1350)ATG>TTG	p.M450L	USP47_uc001mjr.2_Missense_Mutation_p.M362L|USP47_uc001mjs.2_Missense_Mutation_p.M430L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	450					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12315220	12315220	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12315220A>G	uc001mkg.1	+	3	533	c.242A>G	c.(241-243)TAT>TGT	p.Y81C		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316135	12316135	+	Missense_Mutation	SNP	C	T	T	rs112851920		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12316135C>T	uc001mkg.1	+	3	1448	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	386					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13388247	13388247	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13388247G>A	uc001mkr.2	+	11	996	c.588G>A	c.(586-588)CTG>CTA	p.L196L	ARNTL_uc001mko.2_Silent_p.L153L|ARNTL_uc001mkp.2_Silent_p.L196L|ARNTL_uc001mkq.2_Silent_p.L196L|ARNTL_uc001mks.2_Silent_p.L153L|ARNTL_uc001mkt.2_Silent_p.L196L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.L153L|ARNTL_uc001mkv.1_Silent_p.L153L|ARNTL_uc001mkw.2_Silent_p.L153L|ARNTL_uc001mkx.2_Silent_p.L194L	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	196	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)														---	---	---	---
FAR1	84188	broad.mit.edu	37	11	13729544	13729544	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13729544T>C	uc001mld.2	+	4	618	c.463T>C	c.(463-465)TAT>CAT	p.Y155H	FAR1_uc009ygp.2_Missense_Mutation_p.Y155H	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	155					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14502603	14502603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14502603T>C	uc001mli.2	-	9	1305	c.998A>G	c.(997-999)GAC>GGC	p.D333G	COPB1_uc001mlg.2_Missense_Mutation_p.D333G|COPB1_uc001mlh.2_Missense_Mutation_p.D333G	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	333	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14508019	14508019	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14508019C>T	uc001mli.2	-	7	1038	c.731G>A	c.(730-732)CGT>CAT	p.R244H	COPB1_uc001mlg.2_Missense_Mutation_p.R244H|COPB1_uc001mlh.2_Missense_Mutation_p.R244H	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	244	HEAT 3.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808106	14808106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14808106A>G	uc001mln.2	+	3	1506	c.1153A>G	c.(1153-1155)AGC>GGC	p.S385G	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	385					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14856574	14856574	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14856574T>A	uc001mln.2	+	11	2606	c.2253T>A	c.(2251-2253)TAT>TAA	p.Y751*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.Y700*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	751	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	15994527	15994527	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:15994527C>A	uc001mme.2	-	16	2387	c.2354G>T	c.(2353-2355)AGC>ATC	p.S785I	SOX6_uc001mmd.2_Missense_Mutation_p.S748I|SOX6_uc001mmf.2_Missense_Mutation_p.S745I|SOX6_uc001mmg.2_Missense_Mutation_p.S752I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	772					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16068172	16068172	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16068172C>T	uc001mme.2	-	12	1583	c.1550G>A	c.(1549-1551)CGG>CAG	p.R517Q	SOX6_uc001mmd.2_Missense_Mutation_p.R480Q|SOX6_uc001mmf.2_Missense_Mutation_p.R477Q|SOX6_uc001mmg.2_Missense_Mutation_p.R504Q	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	504					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17141478	17141478	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17141478A>G	uc001mmq.3	-	15	2767	c.2701T>C	c.(2701-2703)TAT>CAT	p.Y901H	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Y521H|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	901					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17156512	17156512	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17156512A>C	uc001mmq.3	-	10	2028	c.1962T>G	c.(1960-1962)GAT>GAG	p.D654E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D274E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D654E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	654					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17452414	17452414	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17452414T>C	uc001mnc.2	-	12	1890	c.1764A>G	c.(1762-1764)ACA>ACG	p.T588T	ABCC8_uc010rcy.1_Silent_p.T587T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	588	Helical; Name=11; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17483378	17483378	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17483378G>T	uc001mnc.2	-						ABCC8_uc010rcy.1_Intron	NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17548843	17548843	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17548843G>T	uc001mnf.2	-	5	532	c.423C>A	c.(421-423)TCC>TCA	p.S141S	USH1C_uc001mne.2_Silent_p.S141S|USH1C_uc009yhb.2_Silent_p.S141S|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.S105S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	141	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741356	17741356	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17741356C>T	uc001mni.2	+	1	247	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17757940	17757940	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17757940G>A	uc001mnk.3	+	1	446	c.391G>A	c.(391-393)GCC>ACC	p.A131T	KCNC1_uc009yhc.1_Missense_Mutation_p.A131T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	131	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793578	17793578	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17793578G>A	uc001mnk.3	+	2	992	c.937G>A	c.(937-939)GTC>ATC	p.V313I	KCNC1_uc009yhc.1_Missense_Mutation_p.V313I	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	313	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18633968	18633968	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18633968A>G	uc001moy.2	-	4	1995	c.1779T>C	c.(1777-1779)GAT>GAC	p.D593D	SPTY2D1_uc010rdi.1_Silent_p.D593D	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	593	Poly-Asp.									breast(1)	1																		---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18743101	18743101	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18743101T>C	uc009yht.2	-	4	549	c.359A>G	c.(358-360)AAC>AGC	p.N120S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	120	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7																OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19259413	19259413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19259413T>G	uc001mpm.2	-	3	804	c.282A>C	c.(280-282)AAA>AAC	p.K94N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.K94N|E2F8_uc001mpo.1_Missense_Mutation_p.K94N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	94					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19261660	19261660	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19261660G>A	uc001mpm.2	-	2	531	c.9C>T	c.(7-9)AAC>AAT	p.N3N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N3N|E2F8_uc001mpo.1_Silent_p.N3N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	3					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20065572	20065572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20065572T>C	uc010rdm.1	+	14	3383	c.3022T>C	c.(3022-3024)TCT>CCT	p.S1008P	NAV2_uc001mpp.2_Missense_Mutation_p.S921P|NAV2_uc001mpr.3_Missense_Mutation_p.S985P|NAV2_uc001mpt.2_Missense_Mutation_p.S71P|NAV2_uc009yhx.2_Missense_Mutation_p.S71P|NAV2_uc009yhy.1_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1008						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070671	20070671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20070671G>A	uc010rdm.1	+	16	4730	c.4369G>A	c.(4369-4371)GCC>ACC	p.A1457T	NAV2_uc001mpp.2_Missense_Mutation_p.A1370T|NAV2_uc001mpr.3_Missense_Mutation_p.A1434T|NAV2_uc001mpt.2_Missense_Mutation_p.A520T|NAV2_uc009yhx.2_Missense_Mutation_p.A520T|NAV2_uc009yhy.1_Missense_Mutation_p.A433T|NAV2_uc009yhz.2_Missense_Mutation_p.A116T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1457	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20122624	20122624	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20122624C>G	uc001mpr.3	+	32	6693	c.6332C>G	c.(6331-6333)GCC>GGC	p.A2111G	NAV2_uc001mpp.2_Missense_Mutation_p.A2044G|NAV2_uc009yhx.2_Missense_Mutation_p.A1172G|NAV2_uc009yhz.2_Missense_Mutation_p.A753G|NAV2_uc001mpu.2_Missense_Mutation_p.A546G	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2167						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668428	20668428	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20668428C>A	uc001mqd.2	+	14	2291	c.2018C>A	c.(2017-2019)CCT>CAT	p.P673H	SLC6A5_uc009yic.2_Missense_Mutation_p.P438H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	673					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)													---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22225353	22225353	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22225353A>G	uc001mqi.2	+	2	361	c.44A>G	c.(43-45)GAA>GGA	p.E15G	ANO5_uc001mqj.2_Missense_Mutation_p.E15G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	15	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22363222	22363222	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22363222C>A	uc001mqk.2	+	2	648	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	79	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4																		---	---	---	---
SVIP	258010	broad.mit.edu	37	11	22844655	22844655	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22844655A>G	uc001mqp.3	-	4						NM_148893	NP_683691			small VCP/p97-interacting protein							Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane					0																		---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26714070	26714070	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26714070G>A	uc001mra.2	-	9	1432	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.S373S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	373	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2																		---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27148839	27148839	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27148839G>T	uc001mre.1	+	9	1372	c.1004_splice	c.e9-1	p.G335_splice	BBOX1_uc009yih.1_Splice_Site_p.G335_splice|BBOX1_uc001mrg.1_Splice_Site_p.G335_splice	NM_003986	NP_003977			gamma-butyrobetaine dioxygenase						carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27395180	27395180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27395180G>T	uc001mrj.3	-	15	1782	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	LGR4_uc001mrk.3_Missense_Mutation_p.L409M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	433	LRR 15.|Extracellular (Potential).			L -> P (in Ref. 1; AAF68989).		integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1																		---	---	---	---
C11orf46	120534	broad.mit.edu	37	11	30358350	30358350	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30358350T>C	uc001mso.1	+	4					C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529			hypothetical protein LOC120534												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	30937073	30937073	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30937073T>A	uc001mss.1	-	5		c.741A>T			uc009yjk.1_Missense_Mutation_p.H661L					Homo sapiens mRNA for KIAA1493 protein, partial cds.																														---	---	---	---
WIT1	51352	broad.mit.edu	37	11	32460534	32460534	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32460534C>A	uc010rec.1	+	2		c.1252C>A			WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron	NR_023920				full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).												0	Breast(20;0.247)																	---	---	---	---
EIF3M	10480	broad.mit.edu	37	11	32610169	32610169	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32610169T>A	uc001mtu.2	+	3	248	c.205T>A	c.(205-207)TCC>ACC	p.S69T	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	69						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)																	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32954606	32954606	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32954606C>A	uc001mty.2	+	4	1682	c.1415C>A	c.(1414-1416)TCT>TAT	p.S472Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	472	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33370372	33370372	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33370372C>T	uc001mul.1	+						HIPK3_uc001mum.1_Intron|HIPK3_uc009yjv.1_Intron	NM_005734	NP_005725			homeodomain interacting protein kinase 3 isoform						anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33566723	33566723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33566723A>G	uc001mup.3	+	2	2435	c.2311A>G	c.(2311-2313)AGA>GGA	p.R771G	C11orf41_uc001mun.1_Missense_Mutation_p.R771G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	765						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33581342	33581342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33581342C>T	uc001mup.3	+	6	3154	c.3030C>T	c.(3028-3030)GTC>GTT	p.V1010V	C11orf41_uc001mun.1_Silent_p.V1010V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1004						integral to membrane				ovary(2)	2																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33628237	33628237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33628237A>G	uc001mup.3	+	13	4181	c.4057A>G	c.(4057-4059)AAG>GAG	p.K1353E		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1347						integral to membrane				ovary(2)	2																		---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34144031	34144031	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34144031A>T	uc001mvk.2	+	9	1050	c.806A>T	c.(805-807)GAG>GTG	p.E269V	NAT10_uc010ren.1_Missense_Mutation_p.E197V	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	269						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)																---	---	---	---
CAT	847	broad.mit.edu	37	11	34472556	34472556	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34472556T>A	uc001mvm.2	+	3	343	c.260T>A	c.(259-261)GTC>GAC	p.V87D	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	87					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
APIP	51074	broad.mit.edu	37	11	34905014	34905014	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34905014T>C	uc001mvs.2	-	6	607	c.499A>G	c.(499-501)ACA>GCA	p.T167A	APIP_uc010reo.1_Missense_Mutation_p.T184A	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	167					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity				0	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)															---	---	---	---
CD44	960	broad.mit.edu	37	11	35198138	35198138	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35198138C>T	uc001mvu.2	+	2	518	c.84C>T	c.(82-84)TGC>TGT	p.C28C	CD44_uc001mvv.2_Silent_p.C28C|CD44_uc001mvw.2_Silent_p.C28C|CD44_uc001mvx.2_Silent_p.C28C|CD44_uc001mvy.2_Silent_p.C28C|CD44_uc001mwc.3_Silent_p.C28C|CD44_uc010rer.1_Silent_p.C28C|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	28	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35456166	35456166	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35456166G>A	uc001mwg.2	-	10	1563	c.1520C>T	c.(1519-1521)ACT>ATT	p.T507I	PAMR1_uc001mwf.2_Missense_Mutation_p.T524I|PAMR1_uc010rew.1_Missense_Mutation_p.T396I|PAMR1_uc010rex.1_Missense_Mutation_p.T467I	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	507	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513631	35513631	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35513631G>A	uc001mwg.2	-	3	384	c.341C>T	c.(340-342)GCA>GTA	p.A114V	PAMR1_uc001mwf.2_Missense_Mutation_p.A114V|PAMR1_uc010rew.1_Missense_Mutation_p.A114V|PAMR1_uc010rex.1_Missense_Mutation_p.A74V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	114					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TRIM44	54765	broad.mit.edu	37	11	35747662	35747662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35747662C>T	uc001mwi.2	+	3	1245	c.938C>T	c.(937-939)GCC>GTC	p.A313V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	313	Potential.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)																---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36516539	36516539	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36516539A>G	uc001mwr.1	-	6	1005	c.665T>C	c.(664-666)CTC>CCC	p.L222P	TRAF6_uc001mws.1_Missense_Mutation_p.L222P	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	222	Interaction with TAX1BP1.|TRAF-type 2.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)																---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597940	36597940	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36597940T>C	uc001mwu.3	+	2	3210	c.3086T>C	c.(3085-3087)TTA>TCA	p.L1029S	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1029					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43413401	43413401	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43413401C>T	uc001mxi.2	+	5	576	c.562C>T	c.(562-564)CCT>TCT	p.P188S	TTC17_uc001mxh.2_Missense_Mutation_p.P188S|TTC17_uc010rfj.1_Missense_Mutation_p.P131S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	188							binding			ovary(5)	5																		---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43918844	43918844	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43918844T>A	uc001mxs.2	+						ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Intron|LOC729799_uc010rfk.1_5'Flank	NM_139178	NP_631917			AlkB homolog 3						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)								Direct_reversal_of_damage					---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44097068	44097068	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44097068G>A	uc009yks.1	+						EXT2_uc010rfo.1_5'Flank|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Intron|ACCS_uc001mxx.2_Intron	NM_001127219	NP_001120691			1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44104792	44104792	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44104792G>T	uc009yks.1	+	13	1329	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.E395D	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	395							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44129625	44129625	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44129625T>C	uc001mxz.2	+	2	697	c.363T>C	c.(361-363)TCT>TCC	p.S121S	EXT2_uc010rfo.1_Silent_p.S149S|EXT2_uc001mxy.2_Silent_p.S134S|EXT2_uc009ykt.2_Silent_p.S121S|EXT2_uc001mya.2_Silent_p.S154S	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	121	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5								Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45246062C>T	uc001myo.2	+	8	1388	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										upper_aerodigestive_tract(1)	1																		---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265608	45265608	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45265608G>T	uc001myq.2	-	6	1402	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M	SYT13_uc009yku.1_Missense_Mutation_p.L282M	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	426	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671505	45671505	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671505C>T	uc001mys.1	-	4	1640	c.969G>A	c.(967-969)CCG>CCA	p.P323P		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	323	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)														---	---	---	---
PEX16	9409	broad.mit.edu	37	11	45935936	45935936	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45935936T>C	uc001nbu.2	-	7	937	c.625A>G	c.(625-627)ACC>GCC	p.T209A	PEX16_uc001nbt.2_Missense_Mutation_p.T209A	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	209	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)														---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45948298	45948298	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45948298C>A	uc001nbv.1	+	10	1312	c.1201C>A	c.(1201-1203)CCC>ACC	p.P401T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P370T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P401T|GYLTL1B_uc001nby.1_Missense_Mutation_p.P84T|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	401	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46105778	46105778	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46105778C>T	uc001ncc.3	-	3					PHF21A_uc001ncb.3_5'UTR|PHF21A_uc009ykx.2_5'UTR|PHF21A_uc001nce.2_5'UTR	NM_001101802	NP_001095272			BRAF35/HDAC2 complex isoform a						blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46801732	46801732	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46801732T>C	uc001ndi.1	-						CKAP5_uc009ylg.1_Intron|CKAP5_uc001ndj.1_Intron	NM_001008938	NP_001008938			colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296132	47296132	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47296132C>T	uc001ner.1	+	3	272	c.81C>T	c.(79-81)AGC>AGT	p.S27S	MADD_uc001neq.2_Silent_p.S27S|MADD_uc001nev.1_Silent_p.S27S|MADD_uc001nes.1_Silent_p.S27S|MADD_uc001net.1_Silent_p.S27S|MADD_uc009yln.1_Silent_p.S27S|MADD_uc001neu.1_Silent_p.S27S|MADD_uc001nex.2_Silent_p.S27S|MADD_uc001nez.2_Silent_p.S27S|MADD_uc001new.2_Silent_p.S27S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	27	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47371349	47371349	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47371349G>A	uc001nfa.3	-	5	685	c.630C>T	c.(628-630)CAC>CAT	p.H210H		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	210	Ig-like C2-type 1.	Zinc.			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)														---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47444219	47444219	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47444219C>A	uc001nfh.2	-	8	984	c.790G>T	c.(790-792)GGT>TGT	p.G264C	PSMC3_uc009ylr.1_Missense_Mutation_p.G222C	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47464237	47464237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47464237G>A	uc001nfi.1	-	3	875	c.661C>T	c.(661-663)CGC>TGC	p.R221C	RAPSN_uc001nfj.1_Missense_Mutation_p.R221C|RAPSN_uc009yls.1_Missense_Mutation_p.R221C	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	221	TPR 5.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47504275	47504275	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47504275A>C	uc001nfl.2	-	6	669	c.659T>G	c.(658-660)CTA>CGA	p.L220R	CELF1_uc001nfm.2_Missense_Mutation_p.L220R|CELF1_uc001nfn.2_Missense_Mutation_p.L220R|CELF1_uc001nfo.1_Missense_Mutation_p.L246R|CELF1_uc010rhm.1_Missense_Mutation_p.L219R|CELF1_uc001nfp.2_Missense_Mutation_p.L247R|CELF1_uc001nfq.1_Missense_Mutation_p.L220R|CELF1_uc001nfr.1_Missense_Mutation_p.L220R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	220					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47648651	47648651	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47648651T>C	uc010rho.1	-	10	851	c.662A>G	c.(661-663)TAT>TGT	p.Y221C	MTCH2_uc001nge.2_Missense_Mutation_p.Y94C|MTCH2_uc010rhp.1_Missense_Mutation_p.Y73C	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	221					transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47650523	47650523	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47650523G>T	uc010rho.1	-	9	804	c.615C>A	c.(613-615)ACC>ACA	p.T205T	MTCH2_uc001nge.2_Silent_p.T78T|MTCH2_uc010rhp.1_Silent_p.T57T	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	205	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47736193	47736193	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47736193C>A	uc001ngg.2	-	1	110	c.10G>T	c.(10-12)GCT>TCT	p.A4S	AGBL2_uc010rhq.1_Missense_Mutation_p.A4S|AGBL2_uc001ngh.1_Missense_Mutation_p.A4S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	4					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744588	47744588	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47744588T>A	uc009ylv.2	-	15	2898	c.2745A>T	c.(2743-2745)CCA>CCT	p.P915P	FNBP4_uc001ngi.2_Silent_p.P229P|FNBP4_uc001ngj.2_Silent_p.P822P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	915	Pro-rich.									ovary(1)	1																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754182	47754182	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754182T>C	uc009ylv.2	-	11	1880	c.1727A>G	c.(1726-1728)AAC>AGC	p.N576S	FNBP4_uc001ngj.2_Missense_Mutation_p.N483S|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	576										ovary(1)	1																		---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47754208	47754208	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47754208G>A	uc009ylv.2	-	11	1854	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	FNBP4_uc001ngj.2_Silent_p.D474D|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	567										ovary(1)	1																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48131619	48131619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48131619G>A	uc001ngp.3	+	2	461	c.106G>A	c.(106-108)GCA>ACA	p.A36T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A36T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	36	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																OREG0020960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48166633	48166633	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48166633C>T	uc001ngp.3	+	14	3223	c.2868C>T	c.(2866-2868)TCC>TCT	p.S956S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	956	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48185166	48185166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48185166T>C	uc001ngp.3	+	23	4070	c.3715T>C	c.(3715-3717)TGC>CGC	p.C1239R		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1239	Tyrosine-protein phosphatase.|Substrate binding (By similarity).|Cytoplasmic (Potential).	Phosphocysteine intermediate (By similarity).		C->S: Catalytically inactive and substrate trapping with higher affinity for substrate.	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328111	48328111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48328111C>T	uc010rhu.1	+	1	337	c.337C>T	c.(337-339)CTT>TTT	p.L113F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346544	48346544	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346544G>A	uc010rhv.1	+	1	52	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168405	49168405	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49168405A>G	uc001ngy.2	-	19	2417	c.2156T>C	c.(2155-2157)GTG>GCG	p.V719A	FOLH1_uc001ngx.2_Missense_Mutation_p.W119R|FOLH1_uc001ngz.2_Missense_Mutation_p.V688A|FOLH1_uc009yly.2_Missense_Mutation_p.V704A|FOLH1_uc009ylz.2_Missense_Mutation_p.V673A|FOLH1_uc009yma.2_Missense_Mutation_p.V411A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	719	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)													---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974337	49974337	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49974337T>C	uc010rhz.1	+	1	363	c.363T>C	c.(361-363)TAT>TAC	p.Y121Y		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412149	51412149	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412149A>C	uc001nhi.1	-	1	247	c.247T>G	c.(247-249)TTA>GTA	p.L83V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412388	51412388	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51412388T>C	uc001nhi.1	-	1	8	c.8A>G	c.(7-9)CAG>CGG	p.Q3R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035855	55035855	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035855A>G	uc010rid.1	+							NM_024114	NP_077019			tripartite motif-containing 48							intracellular	zinc ion binding				0																		---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339641	55339641	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55339641T>A	uc010rih.1	+	1	38	c.38T>A	c.(37-39)CTT>CAT	p.L13H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432731	55432731	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55432731T>G	uc001nht.3	+	3	354	c.89T>G	c.(88-90)CTT>CGT	p.L30R	OR4C6_uc010rik.1_Missense_Mutation_p.L30R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541190	55541190	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541190A>G	uc010ril.1	+	1	277	c.277A>G	c.(277-279)ACC>GCC	p.T93A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563075	55563075	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563075C>T	uc010rim.1	+	1	44	c.44C>T	c.(43-45)GCC>GTC	p.A15V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563329	55563329	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563329A>G	uc010rim.1	+	1	298	c.298A>G	c.(298-300)ATG>GTG	p.M100V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579700	55579700	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579700G>T	uc001nhw.1	+	1	758	c.758G>T	c.(757-759)GGA>GTA	p.G253V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579727	55579727	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579727C>A	uc001nhw.1	+	1	785	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579836	55579836	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579836A>T	uc001nhw.1	+	1	894	c.894A>T	c.(892-894)AAA>AAT	p.K298N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587251	55587251	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587251T>A	uc010rin.1	+	1	146	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55682066	55682066	+	5'Flank	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55682066T>G	uc010rir.1	-							NM_001001960	NP_001001960			olfactory receptor, family 5, subfamily W,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703185C>T	uc010ris.1	-	1	692	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703617	55703617	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703617A>G	uc010ris.1	-	1	260	c.260T>C	c.(259-261)TTC>TCC	p.F87S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761391	55761391	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761391A>C	uc010riv.1	-	1	711	c.711T>G	c.(709-711)GCT>GCG	p.A237A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798599	55798599	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798599C>G	uc010riw.1	+	1	705	c.705C>G	c.(703-705)AGC>AGG	p.S235R		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890557	55890557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890557G>A	uc001nii.1	+	1	709	c.709G>A	c.(709-711)GCT>ACT	p.A237T		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057653	56057653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56057653C>T	uc010rje.1	-	1	886	c.886G>A	c.(886-888)GTT>ATT	p.V296I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56085879	56085879	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56085879A>G	uc010rjf.1	+	1	97	c.97A>G	c.(97-99)ATG>GTG	p.M33V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409175	56409175	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409175A>G	uc001njb.1	-	1	741	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
OR9G9	504191	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56467959C>T	uc010rjn.1	+	1	96	c.96C>T	c.(94-96)GGC>GGT	p.G32G		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510828	56510828	+	Missense_Mutation	SNP	C	T	T	rs139616824		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56510828C>T	uc010rjo.1	-	1	460	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949930	56949930	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949930G>A	uc001njl.1	+	1	710	c.563G>A	c.(562-564)AGC>AAC	p.S188N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	158	LRR 4.					integral to membrane					0																		---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003818	57003818	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57003818A>G	uc001njo.2	-	1	1110	c.661T>C	c.(661-663)TAC>CAC	p.Y221H	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	221	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6																		---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57068388	57068388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57068388G>A	uc001njr.2	-	9	5411	c.5099C>T	c.(5098-5100)ACG>ATG	p.T1700M	TNKS1BP1_uc001njp.2_Missense_Mutation_p.T272M|TNKS1BP1_uc001njq.2_Missense_Mutation_p.T273M|TNKS1BP1_uc001njs.2_Missense_Mutation_p.T1700M	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1700	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57076651	57076651	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57076651A>G	uc001njr.2	-	5	3846	c.3534T>C	c.(3532-3534)TCT>TCC	p.S1178S	TNKS1BP1_uc001njs.2_Silent_p.S1178S|TNKS1BP1_uc009ymd.1_Silent_p.S629S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1178	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57440666	57440666	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57440666C>T	uc001nkx.1	+	2	1360	c.104C>T	c.(103-105)ACG>ATG	p.T35M	ZDHHC5_uc001nky.1_Intron	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	35						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57575947	57575947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57575947T>C	uc001nmc.3	+	14	2748	c.2177T>C	c.(2176-2178)GTG>GCG	p.V726A	CTNND1_uc001nlh.1_Missense_Mutation_p.V726A|CTNND1_uc001nlu.3_Missense_Mutation_p.V619A|CTNND1_uc001nlt.3_Missense_Mutation_p.V619A|CTNND1_uc001nls.3_Missense_Mutation_p.V619A|CTNND1_uc001nlw.3_Missense_Mutation_p.V619A|CTNND1_uc001nmf.3_Missense_Mutation_p.V726A|CTNND1_uc001nmd.3_Missense_Mutation_p.V672A|CTNND1_uc001nlk.3_Missense_Mutation_p.V672A|CTNND1_uc001nme.3_Missense_Mutation_p.V720A|CTNND1_uc001nll.3_Missense_Mutation_p.V666A|CTNND1_uc001nmg.3_Missense_Mutation_p.V666A|CTNND1_uc001nlj.3_Missense_Mutation_p.V666A|CTNND1_uc001nlr.3_Missense_Mutation_p.V666A|CTNND1_uc001nlp.3_Missense_Mutation_p.V666A|CTNND1_uc001nlx.3_Missense_Mutation_p.V403A|CTNND1_uc001nlz.3_Missense_Mutation_p.V403A|CTNND1_uc009ymn.2_Missense_Mutation_p.V397A|CTNND1_uc001nlm.3_Missense_Mutation_p.V720A|CTNND1_uc001nly.3_Missense_Mutation_p.V397A|CTNND1_uc001nmb.3_Missense_Mutation_p.V397A|CTNND1_uc001nma.3_Missense_Mutation_p.V397A|CTNND1_uc001nmi.3_Missense_Mutation_p.V625A|CTNND1_uc001nmh.3_Missense_Mutation_p.V720A|CTNND1_uc001nlq.3_Missense_Mutation_p.V625A|CTNND1_uc001nln.3_Missense_Mutation_p.V720A|CTNND1_uc001nli.3_Missense_Mutation_p.V720A|CTNND1_uc001nlo.3_Missense_Mutation_p.V619A|CTNND1_uc001nlv.3_Missense_Mutation_p.V619A	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	726	ARM 8.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971193	57971193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57971193C>T	uc010rkb.1	-	1	461	c.461G>A	c.(460-462)GGC>GAC	p.G154D		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)																---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982629	57982629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57982629C>T	uc010rkc.1	+	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)																---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57996067	57996067	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57996067T>C	uc010rkd.1	-	1	281	c.281A>G	c.(280-282)AAG>AGG	p.K94R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)																---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190409	58190409	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58190409T>C	uc010rkg.1	-	1	326	c.326A>G	c.(325-327)GAA>GGA	p.E109G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207236	58207236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58207236T>C	uc010rkh.1	-	1	389	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275329	58275329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58275329G>A	uc010rki.1	-	1	250	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---
GLYAT	10249	broad.mit.edu	37	11	58478068	58478068	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58478068C>A	uc001nnb.2	-	5	638	c.483G>T	c.(481-483)AAG>AAT	p.K161N	GLYAT_uc001nnc.2_Missense_Mutation_p.K161N	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	161					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)													---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58949402	58949402	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58949402A>G	uc001nns.2	+	2	659	c.402A>G	c.(400-402)GTA>GTG	p.V134V	DTX4_uc001nnr.2_Silent_p.V28V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58978613A>G	uc001nnu.3	-	1	1882	c.1726T>C	c.(1726-1728)TAT>CAT	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	576	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979219	58979219	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58979219T>C	uc001nnu.3	-	1	1276	c.1120A>G	c.(1120-1122)ACC>GCC	p.T374A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	374	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271510	59271510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59271510C>T	uc001noa.1	+	1	462	c.462C>T	c.(460-462)GTC>GTT	p.V154V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
PLAC1L	219990	broad.mit.edu	37	11	59814517	59814517	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59814517T>C	uc001nol.2	+	4	633	c.448T>C	c.(448-450)TTA>CTA	p.L150L		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	150						extracellular region				ovary(2)|skin(1)	3																		---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828798	59828798	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59828798G>A	uc001nom.2	+						MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129			membrane-spanning 4-domains, subfamily A, member							endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)																---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183917	60183917	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60183917C>A	uc001npj.2	+	5	2041	c.1476C>A	c.(1474-1476)ACC>ACA	p.T492T	MS4A14_uc001npi.2_Silent_p.T380T|MS4A14_uc001npn.2_Silent_p.T230T|MS4A14_uc001npk.2_Silent_p.T475T|MS4A14_uc001npl.2_Silent_p.T230T|MS4A14_uc001npm.2_Silent_p.T230T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	492	Gln-rich.					integral to membrane	receptor activity			breast(1)	1																		---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60264792	60264792	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60264792A>C	uc001npr.2	+	2	58	c.1A>C	c.(1-3)ATG>CTG	p.M1L	MS4A12_uc009ynb.2_Missense_Mutation_p.M1L	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60285576	60285576	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60285576T>C	uc001nps.2	+	3	343	c.20T>C	c.(19-21)ATT>ACT	p.I7T	MS4A13_uc009ync.2_Missense_Mutation_p.I7T|MS4A13_uc009ynd.2_Missense_Mutation_p.I7T	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	7	Helical; (Potential).					integral to membrane					0																		---	---	---	---
MS4A10	341116	broad.mit.edu	37	11	60559804	60559804	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60559804C>T	uc001npz.1	+							NM_206893	NP_996776			membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60609969	60609969	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60609969A>G	uc001nqa.2	+	1	541	c.372A>G	c.(370-372)GCA>GCG	p.A124A	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	124	Pro-rich.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615443	60615443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615443C>T	uc001nqa.2	+	2	974	c.805C>T	c.(805-807)CGG>TGG	p.R269W	CCDC86_uc001nqb.2_Missense_Mutation_p.R13W	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	269					interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60615518	60615518	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60615518C>A	uc001nqa.2	+	2	1049	c.880C>A	c.(880-882)CGC>AGC	p.R294S	CCDC86_uc001nqb.2_Missense_Mutation_p.R38S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	294	Potential.				interspecies interaction between organisms	nucleus					0																		---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60617771	60617771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60617771G>A	uc001nqa.2	+	4	1225	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	CCDC86_uc001nqb.2_Silent_p.P96P	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	352					interspecies interaction between organisms	nucleus					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637016	60637016	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637016C>T	uc001nqd.2	+	3	345	c.325C>T	c.(325-327)CGT>TGT	p.R109C	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	109	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60637914	60637914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60637914C>T	uc001nqd.2	+	4	812	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	264	Extracellular (Potential).|P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60642608	60642608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60642608G>A	uc001nqd.2	+	11	1681	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ZP1_uc001nqe.2_Missense_Mutation_p.R261Q	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	554	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0																		---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60689443	60689443	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60689443C>T	uc001nqg.2	+	4	916	c.538C>T	c.(538-540)CCT>TCT	p.P180S	TMEM109_uc001nqh.2_Missense_Mutation_p.P180S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	180						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60703735	60703735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60703735A>G	uc001nqj.2	+	11	2621	c.2428A>G	c.(2428-2430)AAG>GAG	p.K810E	TMEM132A_uc001nqi.2_Missense_Mutation_p.K811E|TMEM132A_uc001nqm.2_Missense_Mutation_p.K20E	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	810	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60704348	60704348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60704348A>G	uc001nqj.2	+	11	3234	c.3041A>G	c.(3040-3042)AAC>AGC	p.N1014S	TMEM132A_uc001nqi.2_Missense_Mutation_p.N1015S|TMEM132A_uc001nqm.2_Missense_Mutation_p.N224S	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1014	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
CD6	923	broad.mit.edu	37	11	60783197	60783197	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60783197C>A	uc001nqq.2	+	9	1623	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	CD6_uc001nqp.2_Missense_Mutation_p.P467H|CD6_uc001nqr.2_Missense_Mutation_p.P435H|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	467	Cytoplasmic (Potential).			VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1																		---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61044057	61044057	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61044057T>C	uc001nra.2	-						VWCE_uc001nrb.2_Intron	NM_152718	NP_689931			von Willebrand factor C and EGF domains							extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61079550	61079550	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61079550C>T	uc001nrc.3	-	17	2302	c.2076G>A	c.(2074-2076)GCG>GCA	p.A692A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A692A	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	692	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61081422	61081422	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61081422G>A	uc001nrc.3	-	15	1999	c.1773C>T	c.(1771-1773)ATC>ATT	p.I591I	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I591I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	591	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
DAK	26007	broad.mit.edu	37	11	61113377	61113377	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61113377C>A	uc001nre.2	+	17	1791	c.1534C>A	c.(1534-1536)CCA>ACA	p.P512T	DAK_uc009ynm.1_Missense_Mutation_p.P442T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	512	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0																		---	---	---	---
C11orf66	220004	broad.mit.edu	37	11	61257286	61257286	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61257286A>T	uc001nru.1	+	12	1201	c.1076A>T	c.(1075-1077)CAG>CTG	p.Q359L	C11orf66_uc009ynq.1_Missense_Mutation_p.Q339L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	359										ovary(1)	1																		---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61300478	61300478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61300478T>C	uc001nrv.2	-	4	340	c.334A>G	c.(334-336)ACC>GCC	p.T112A	SYT7_uc009ynr.2_Missense_Mutation_p.T187A	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	112	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61615659	61615659	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61615659G>A	uc001nsl.1	+	5	797	c.647G>A	c.(646-648)CGC>CAC	p.R216H	FADS2_uc001nsj.2_Missense_Mutation_p.R194H|FADS2_uc010rlo.1_Missense_Mutation_p.R185H|FADS2_uc001nsk.2_Missense_Mutation_p.R216H	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	216	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)													---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732893	61732893	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61732893A>G	uc001nsu.2	-	2	444	c.209T>C	c.(208-210)CTG>CCG	p.L70P		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	70	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)													---	---	---	---
SCGB1D1	10648	broad.mit.edu	37	11	61959627	61959627	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61959627C>T	uc001nsz.1	+	2	202	c.155C>T	c.(154-156)CCT>CTT	p.P52L		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	52						extracellular space	binding			skin(1)	1																		---	---	---	---
SCGB2A1	4246	broad.mit.edu	37	11	61981186	61981186	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61981186T>C	uc001nta.2	+							NM_002407	NP_002398			secretoglobin, family 2A, member 1 precursor							extracellular region	androgen binding				0																		---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298283	62298283	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62298283T>C	uc001ntl.2	-	5	3906	c.3606A>G	c.(3604-3606)TTA>TTG	p.L1202L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1202					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301413	62301413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62301413G>A	uc001ntl.2	-	5	776	c.476C>T	c.(475-477)GCC>GTC	p.A159V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	159					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62338549	62338549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62338549C>T	uc001ntm.1	-	5	556	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	EEF1G_uc010rlw.1_Missense_Mutation_p.R187Q|EEF1G_uc001ntn.1_Missense_Mutation_p.R17Q	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	137	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0																		---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62394111	62394111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62394111G>A	uc001nub.2	-	21	2476	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GANAB_uc001ntz.2_Nonsense_Mutation_p.R2*|GANAB_uc001nua.2_Nonsense_Mutation_p.R837*|GANAB_uc001nuc.2_Nonsense_Mutation_p.R718*|GANAB_uc010rma.1_Nonsense_Mutation_p.R723*|GANAB_uc010rmb.1_Nonsense_Mutation_p.R701*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	815					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416356	62416356	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62416356G>T	uc001nud.2	-	2	1249	c.1196C>A	c.(1195-1197)TCT>TAT	p.S399Y	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	399					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2																		---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62520498	62520498	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62520498T>A	uc001nuz.2	-	2	911	c.789A>T	c.(787-789)CCA>CCT	p.P263P		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	263	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3																		---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62569076	62569076	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62569076A>G	uc001nvf.1	-	7	803	c.667T>C	c.(667-669)TCC>CCC	p.S223P	NXF1_uc001nvg.1_Missense_Mutation_p.S223P|NXF1_uc009yog.1_Missense_Mutation_p.S266P|NXF1_uc010rmh.1_Missense_Mutation_p.S86P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	223	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3																		---	---	---	---
WDR74	54663	broad.mit.edu	37	11	62600597	62600597	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62600597G>T	uc001nvm.1	-	12	1153	c.985C>A	c.(985-987)CCC>ACC	p.P329T	STX5_uc001nvh.2_5'Flank|STX5_uc010rmi.1_5'Flank|STX5_uc009yoh.2_5'Flank|STX5_uc001nvi.2_5'Flank|STX5_uc010rmj.1_5'Flank|STX5_uc001nvj.2_5'Flank|WDR74_uc001nvk.1_Missense_Mutation_p.P272T|WDR74_uc001nvl.1_Missense_Mutation_p.P310T|WDR74_uc001nvn.1_Missense_Mutation_p.P381T|WDR74_uc009yoi.1_Missense_Mutation_p.P329T	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	WD repeat domain 74	329						nucleolus				ovary(1)	1																		---	---	---	---
CHRM1	1128	broad.mit.edu	37	11	62677758	62677758	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62677758T>G	uc001nwi.2	-	2	1216	c.815A>C	c.(814-816)TAC>TCC	p.Y272S		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	272	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)													---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63472327	63472327	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63472327C>A	uc001nxq.2	+	2	334	c.147C>A	c.(145-147)TCC>TCA	p.S49S	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Silent_p.S49S|RTN3_uc001nxn.2_Intron|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Intron|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	49					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63488173	63488173	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63488173A>G	uc001nxq.2	+	3	2386	c.2199A>G	c.(2197-2199)GTA>GTG	p.V733V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.V714V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.V621V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	733					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63681532	63681532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63681532C>T	uc001nyc.2	-	8	1173	c.785G>A	c.(784-786)GGC>GAC	p.G262D		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2																		---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63970965	63970965	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63970965A>G	uc001nyk.1	+	13	1577	c.1430A>G	c.(1429-1431)AAC>AGC	p.N477S	STIP1_uc010rnb.1_Missense_Mutation_p.N453S	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	477					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64023979	64023979	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64023979A>G	uc001nzb.2	+	9	830	c.830A>G	c.(829-831)GAA>GGA	p.E277G	PLCB3_uc009ypg.1_Missense_Mutation_p.E277G|PLCB3_uc009yph.1_Missense_Mutation_p.E210G|PLCB3_uc009ypi.2_Missense_Mutation_p.E277G	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	277					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64026012	64026012	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64026012C>T	uc001nzb.2	+	11	1080	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	PLCB3_uc009ypg.1_Silent_p.C360C|PLCB3_uc009yph.1_Silent_p.C293C|PLCB3_uc009ypi.2_Silent_p.C360C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	360	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64031258	64031258	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64031258G>A	uc001nzb.2	+	21	2551	c.2551G>A	c.(2551-2553)GAC>AAC	p.D851N	PLCB3_uc009ypg.1_Missense_Mutation_p.D851N|PLCB3_uc009yph.1_Missense_Mutation_p.D784N|PLCB3_uc009ypi.2_Missense_Mutation_p.D851N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	851					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64032685	64032685	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64032685C>T	uc001nzb.2	+	24	2828	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V	PLCB3_uc009ypg.1_Missense_Mutation_p.A943V|PLCB3_uc009yph.1_Missense_Mutation_p.A876V|PLCB3_uc009ypi.2_Missense_Mutation_p.A943V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	943					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---
BAD	572	broad.mit.edu	37	11	64037796	64037796	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64037796C>T	uc001nzd.2	-	4	474	c.392G>A	c.(391-393)CGC>CAC	p.R131H	BAD_uc001nzc.2_Missense_Mutation_p.R131H|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	131					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1																		---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64367342	64367342	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64367342C>T	uc001oam.1	+	7	2012	c.1265C>T	c.(1264-1266)GCC>GTC	p.A422V	SLC22A12_uc001oal.1_Missense_Mutation_p.A201V|SLC22A12_uc009yps.1_Missense_Mutation_p.A388V|SLC22A12_uc001oan.1_Missense_Mutation_p.A314V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A240V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	422	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453147	64453147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453147C>T	uc001oar.2	-	7	1562	c.1123G>A	c.(1123-1125)GAC>AAC	p.D375N	NRXN2_uc001oas.2_Missense_Mutation_p.D351N|NRXN2_uc001oaq.2_Missense_Mutation_p.D49N	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10																		---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64508434	64508434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64508434G>A	uc009ypu.2	-	5	584	c.357C>T	c.(355-357)ATC>ATT	p.I119I	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.I119I|RASGRP2_uc009ypw.2_Silent_p.I119I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	119	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0																OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64540944	64540944	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64540944A>G	uc001obb.1	-	3	571	c.194T>C	c.(193-195)CTG>CCG	p.L65P	SF1_uc010rnn.1_Missense_Mutation_p.L39P|SF1_uc001oaz.1_Missense_Mutation_p.L190P|SF1_uc001oba.1_Missense_Mutation_p.L65P|SF1_uc001obc.1_Missense_Mutation_p.L65P|SF1_uc001obd.1_Missense_Mutation_p.L65P|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	65					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64559444	64559444	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64559444G>A	uc001obh.2	-	27	2121	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R669C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	677	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566297	64566297	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566297A>G	uc001obh.2	-	15	1158	c.1066T>C	c.(1066-1068)TGG>CGG	p.W356R	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.W356R	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	356					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64566894	64566894	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64566894G>T	uc001obh.2	-	14	1144	c.1052C>A	c.(1051-1053)CCG>CAG	p.P351Q	MAP4K2_uc001obi.2_Missense_Mutation_p.P351Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNHIT2	741	broad.mit.edu	37	11	64884013	64884013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64884013T>C	uc001ocw.2	-	1	1158	c.1113A>G	c.(1111-1113)GTA>GTG	p.V371V	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	371							metal ion binding			breast(1)	1																		---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64939752	64939752	+	Silent	SNP	C	T	T	rs138896599		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64939752C>T	uc010rnz.1	+	4	294	c.294C>T	c.(292-294)CGC>CGT	p.R98R		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	98	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0																		---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65049201	65049201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65049201G>A	uc001odj.2	+	9	1303	c.961G>A	c.(961-963)GAG>AAG	p.E321K	POLA2_uc010rod.1_Missense_Mutation_p.E113K|POLA2_uc001odk.2_Missense_Mutation_p.E18K	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	321					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65178714	65178714	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65178714C>T	uc001odu.3	+	11	1470	c.1278C>T	c.(1276-1278)GGC>GGT	p.G426G	FRMD8_uc009yqj.2_Silent_p.G370G|FRMD8_uc010rof.1_Silent_p.G392G	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	426						cytoskeleton	binding			lung(1)|pancreas(1)	2																		---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65393441	65393441	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65393441C>T	uc001oey.2	+	20	3295	c.3295C>T	c.(3295-3297)CCA>TCA	p.P1099S	PCNXL3_uc009yqn.2_Missense_Mutation_p.P59S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1099						integral to membrane					0																OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65403965	65403965	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65403965C>T	uc001oey.2	+	34	5697	c.5697C>T	c.(5695-5697)CCC>CCT	p.P1899P	PCNXL3_uc001oez.2_Silent_p.P786P	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1899	Gly-rich.					integral to membrane					0																		---	---	---	---
OVOL1	5017	broad.mit.edu	37	11	65562210	65562210	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65562210C>T	uc001ofp.2	+						OVOL1_uc001ofq.2_Intron	NM_004561	NP_004552			OVO-like 1 binding protein						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)														---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65650817	65650817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65650817G>A	uc001ogc.1	+	9	984	c.942G>A	c.(940-942)TCG>TCA	p.S314S	CTSW_uc001ogb.1_Silent_p.S314S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	314					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)														---	---	---	---
DRAP1	10589	broad.mit.edu	37	11	65688892	65688892	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65688892G>T	uc001ogj.1	+	7	849	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	202					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)														---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767122	65767122	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65767122A>G	uc001ogm.1	-	4	506	c.221T>C	c.(220-222)ATT>ACT	p.I74T	EIF1AD_uc001ogn.1_Missense_Mutation_p.I74T|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	74	S1-like.					nucleus	translation initiation factor activity				0																		---	---	---	---
BANF1	8815	broad.mit.edu	37	11	65771097	65771097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65771097G>A	uc001ogo.2	+	3	632	c.124G>A	c.(124-126)GCC>ACC	p.A42T	EIF1AD_uc001ogm.1_5'Flank|EIF1AD_uc001ogn.1_5'Flank|BANF1_uc001ogp.2_Missense_Mutation_p.A42T	NM_003860	NP_003851	O75531	BAF_HUMAN	barrier to autointegration factor 1	42					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding				0																		---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66052412	66052412	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66052412G>A	uc001ohk.3	-	7	849	c.667C>T	c.(667-669)CTG>TTG	p.L223L	YIF1A_uc001ohj.2_Silent_p.L80L	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	223	Helical; (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0																		---	---	---	---
BRMS1	25855	broad.mit.edu	37	11	66106244	66106244	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66106244A>C	uc001ohp.1	-	8	788	c.641T>G	c.(640-642)GTG>GGG	p.V214G	RIN1_uc009yrd.1_5'Flank|RIN1_uc001ohn.1_5'Flank|RIN1_uc010roz.1_5'Flank|RIN1_uc010rpa.1_5'Flank|BRMS1_uc001oho.1_Missense_Mutation_p.V214G|BRMS1_uc009yre.2_Missense_Mutation_p.V46G	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	214					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0																		---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66190621	66190621	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66190621C>T	uc001ohx.1	+	5	902	c.726C>T	c.(724-726)CGC>CGT	p.R242R	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0																		---	---	---	---
BBS1	582	broad.mit.edu	37	11	66288771	66288771	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66288771G>T	uc001oij.1	+	9	766	c.754G>T	c.(754-756)GAG>TAG	p.E252*	BBS1_uc001oii.1_Nonsense_Mutation_p.E289*|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Nonsense_Mutation_p.E155*|BBS1_uc001oik.1_Nonsense_Mutation_p.E176*|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	252					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66357969	66357969	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66357969T>A	uc001oiq.3	-	1	2586	c.2518A>T	c.(2518-2520)ACC>TCC	p.T840S	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	840										ovary(1)|skin(1)	2																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411054C>A	uc009yrj.2	+	3	1034	c.546C>A	c.(544-546)CGC>CGA	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)														---	---	---	---
RBM4B	83759	broad.mit.edu	37	11	66444271	66444271	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66444271G>T	uc001oja.2	-	1	949	c.280C>A	c.(280-282)CTT>ATT	p.L94I	RBM4B_uc001ojb.2_Missense_Mutation_p.L94I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	94	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66453564	66453564	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66453564G>A	uc001ojd.2	-	37	7023	c.6951C>T	c.(6949-6951)AGC>AGT	p.S2317S	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2317	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66476409	66476409	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66476409C>T	uc001ojd.2	-	10	1227	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	385	Spectrin 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66555668	66555668	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66555668G>A	uc001ojf.2	+	5	568	c.561G>A	c.(559-561)CTG>CTA	p.L187L	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Silent_p.L21L	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	32											0																		---	---	---	---
RCE1	9986	broad.mit.edu	37	11	66613379	66613379	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66613379G>T	uc001ojk.1	+	8	847	c.803G>T	c.(802-804)GGT>GTT	p.G268V	RCE1_uc001ojl.1_Missense_Mutation_p.G164V	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	268	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2																		---	---	---	---
PC	5091	broad.mit.edu	37	11	66617874	66617874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66617874G>A	uc001ojn.1	-	17	2584	c.2535C>T	c.(2533-2535)TAC>TAT	p.Y845Y	PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
PC	5091	broad.mit.edu	37	11	66631240	66631240	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66631240C>A	uc001ojn.1	-						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron	NM_022172	NP_071504			pyruvate carboxylase precursor						gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67017889	67017889	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67017889A>T	uc001ojw.2	+	17	3252	c.2388A>T	c.(2386-2388)GGA>GGT	p.G796G	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.G490G|KDM2A_uc010rpn.1_Silent_p.G357G|KDM2A_uc001ojz.1_Silent_p.G254G|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	796					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			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201901	67201901	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67201901G>A	uc001old.2	+	13	1183	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	RPS6KB2_uc001olf.2_Silent_p.P167P|RPS6KB2_uc001olg.2_Silent_p.P367P|RPS6KB2_uc009yrq.2_Silent_p.P167P|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P198P	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	367	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)															---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67270088	67270088	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67270088G>A	uc001olx.2	-	2	369	c.180C>T	c.(178-180)CAC>CAT	p.H60H	PITPNM1_uc001oly.2_Silent_p.H60H|PITPNM1_uc001olz.2_Silent_p.H60H	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	60					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3																		---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67432984	67432984	+	Missense_Mutation	SNP	C	T	T	rs149584817	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67432984C>T	uc001omr.2	-	7	917	c.478G>A	c.(478-480)GGC>AGC	p.G160S	ALDH3B2_uc001oms.2_Missense_Mutation_p.G160S|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G160S	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	160					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67799623	67799623	+	Missense_Mutation	SNP	G	A	A	rs139334907	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67799623G>A	uc001onc.2	+	2	112	c.5G>A	c.(4-6)CGC>CAC	p.R2H	NDUFS8_uc010rpz.1_Missense_Mutation_p.R2H|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R2H	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	2					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67804031	67804031	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67804031A>G	uc001onc.2	+	7	711	c.604A>G	c.(604-606)AAC>GAC	p.N202D	NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_3'UTR|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	202					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68031218	68031218	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68031218C>T	uc001onr.3	-	3	460	c.18G>A	c.(16-18)GTG>GTA	p.V6V	C11orf24_uc001ons.2_Silent_p.V6V	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	6						integral to membrane					0																		---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007370	70007370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70007370G>A	uc001opj.2	+	17	1987	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	ANO1_uc001opk.1_Missense_Mutation_p.R503Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507698	70507698	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507698T>C	uc001oqc.2	-						SHANK2_uc010rqn.1_Intron|SHANK2_uc001opz.2_Intron|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Intron	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507799	70507799	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70507799C>A	uc001oqc.2	-						SHANK2_uc010rqn.1_Missense_Mutation_p.R25L|SHANK2_uc001opz.2_Missense_Mutation_p.R25L|uc009ysn.1_Silent_p.S79S|SHANK2_uc010rqp.1_Missense_Mutation_p.R25L	NM_012309	NP_036441			SH3 and multiple ankyrin repeat domains 2						intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71209571	71209571	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71209571T>A	uc001oqn.2	+	20	2193	c.2067T>A	c.(2065-2067)AAT>AAA	p.N689K	NADSYN1_uc001oqo.2_Missense_Mutation_p.N429K|NADSYN1_uc001oqp.2_Missense_Mutation_p.N318K	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	689	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276712	71276712	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71276712G>A	uc001oqt.1	+	1	104	c.79G>A	c.(79-81)GGC>AGC	p.G27S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	27						keratin filament				skin(1)	1																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71720311	71720311	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71720311T>C	uc001orl.1	-						NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Intron|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Intron|NUMA1_uc001orn.2_Intron	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
FOLR2	2350	broad.mit.edu	37	11	71932594	71932594	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71932594C>A	uc009ytd.2	+	5	725	c.556C>A	c.(556-558)CTC>ATC	p.L186I	FOLR2_uc009yte.2_Missense_Mutation_p.L186I|FOLR2_uc001ose.3_Missense_Mutation_p.L186I|FOLR2_uc009ytf.2_Missense_Mutation_p.L186I	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	186					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)													---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942175	71942175	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942175A>G	uc001osf.2	+	12	1586	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	INPPL1_uc001osg.2_Missense_Mutation_p.E238G	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942618	71942618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71942618T>C	uc001osf.2	+	13	1721	c.1574T>C	c.(1573-1575)GTC>GCC	p.V525A	INPPL1_uc001osg.2_Missense_Mutation_p.V283A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71946494	71946494	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71946494C>T	uc001osf.2	+	23	2805	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	INPPL1_uc001osg.2_Silent_p.Y644Y	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	886					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948754	71948754	+	Missense_Mutation	SNP	C	T	T	rs141174136	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71948754C>T	uc001osf.2	+	26	3613	c.3466C>T	c.(3466-3468)CGG>TGG	p.R1156W	INPPL1_uc001osg.2_Missense_Mutation_p.R914W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4																		---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72295608	72295608	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72295608C>T	uc010rrc.1	-	18	1767	c.1524G>A	c.(1522-1524)AAG>AAA	p.K508K	PDE2A_uc001oso.2_Silent_p.K487K|PDE2A_uc010rra.1_Silent_p.K501K|PDE2A_uc001osn.2_Silent_p.K252K|PDE2A_uc010rrb.1_Silent_p.K499K|PDE2A_uc010rrd.1_Silent_p.K393K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	508	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)													---	---	---	---
RELT	84957	broad.mit.edu	37	11	73104972	73104972	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73104972A>G	uc001otv.2	+						RELT_uc001otw.2_Intron|RELT_uc001otx.2_Intron	NM_152222	NP_689408			RELT tumor necrosis factor receptor precursor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1																OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74009355	74009355	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74009355C>T	uc001ouz.2	-	4	662	c.619G>A	c.(619-621)GCT>ACT	p.A207T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.A207T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	207						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)																	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74315765	74315765	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74315765C>T	uc001ovf.1	+	3	220	c.145C>T	c.(145-147)CGA>TGA	p.R49*	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	49					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)																	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74421942	74421942	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74421942C>T	uc001ovi.2	-	4	637	c.384G>A	c.(382-384)GAG>GAA	p.E128E	CHRDL2_uc001ovg.2_Silent_p.E12E|CHRDL2_uc001ovh.2_Silent_p.E128E|CHRDL2_uc001ovk.1_Silent_p.E128E			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	128	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)																	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74570275	74570275	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74570275T>C	uc009yub.2	-	12	1406	c.1074A>G	c.(1072-1074)TCA>TCG	p.S358S	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Missense_Mutation_p.T112A|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	358					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74993028	74993028	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74993028G>A	uc001owe.1	-	6	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ARRB1_uc001owf.1_Missense_Mutation_p.P131L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	131	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115222	75115222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115222C>T	uc001owh.2	+	5	539	c.509C>T	c.(508-510)ACT>ATT	p.T170I	RPS3_uc001owi.2_Missense_Mutation_p.T170I|RPS3_uc001owk.1_Missense_Mutation_p.T44I|SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	170					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115466	75115466	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75115466T>A	uc001owh.2	+						RPS3_uc001owi.2_Intron|RPS3_uc001owk.1_Intron|SNORD15B_uc001owl.1_RNA	NM_001005	NP_000996			ribosomal protein S3						activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0																		---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694518	75694518	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75694518G>A	uc001oxc.2	+	8	1028	c.787G>A	c.(787-789)GCA>ACA	p.A263T	UVRAG_uc010rrw.1_Missense_Mutation_p.A162T|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	263	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6																		---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76507436	76507436	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76507436T>A	uc001oxt.2	+	2	948	c.776T>A	c.(775-777)CTG>CAG	p.L259Q		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	259	LRR 9.					extracellular region					0	Ovarian(111;0.112)																	---	---	---	---
OMP	4975	broad.mit.edu	37	11	76814187	76814187	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76814187A>G	uc010rsk.1	+	1	302	c.302A>G	c.(301-303)GAC>GGC	p.D101G	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	101					sensory perception of smell|synaptic transmission						0																		---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77091002	77091002	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77091002A>C	uc001oyh.3	-	3	761	c.228T>G	c.(226-228)TCT>TCG	p.S76S	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Silent_p.S76S|PAK1_uc001oyi.1_Silent_p.S76S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	76	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)																	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77409545	77409545	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77409545T>G	uc001oyn.2	-	7	2822	c.2702A>C	c.(2701-2703)AAC>ACC	p.N901T	RSF1_uc001oym.2_Missense_Mutation_p.N649T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	901	PHD-type.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77639459	77639459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77639459T>C	uc001oys.2	-	11	1328	c.1300A>G	c.(1300-1302)ACC>GCC	p.T434A	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.T434A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	434	HEAT 7.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)															---	---	---	---
ALG8	79053	broad.mit.edu	37	11	77817965	77817965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77817965G>A	uc001oza.1	-	10	1131	c.1066C>T	c.(1066-1068)CCC>TCC	p.P356S	ALG8_uc001oyz.1_Missense_Mutation_p.P356S|ALG8_uc009yux.1_Missense_Mutation_p.P254S	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	356					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885115	77885115	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885115C>A	uc001ozb.2	-	2	561	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	162						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885584	77885584	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77907407	77907407	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77907407T>C	uc009yva.1	+	2	362	c.116T>C	c.(115-117)CTG>CCG	p.L39P	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	39					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
USP35	57558	broad.mit.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77921303C>A	uc009yva.1	+	10	2648	c.2402C>A	c.(2401-2403)CCG>CAG	p.P801Q	USP35_uc001oze.2_Missense_Mutation_p.P557Q|USP35_uc001ozc.2_Missense_Mutation_p.P369Q|USP35_uc010rsp.1_Missense_Mutation_p.P233Q|USP35_uc001ozd.2_Missense_Mutation_p.P412Q|USP35_uc001ozf.2_Missense_Mutation_p.P532Q	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	801					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---
ODZ4	26011	broad.mit.edu	37	11	78369545	78369545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78369545C>T	uc001ozl.3	-	34	8331	c.7868G>A	c.(7867-7869)GGA>GAA	p.G2623E	ODZ4_uc001ozk.3_Missense_Mutation_p.G848E|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2623	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877480	82877480	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82877480C>T	uc001ozx.3	+	5	1886	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	PCF11_uc010rsu.1_Missense_Mutation_p.S514L	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82878291	82878291	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82878291G>A	uc001ozx.3	+	6	2287	c.1942G>A	c.(1942-1944)GCC>ACC	p.A648T	PCF11_uc010rsu.1_Missense_Mutation_p.A648T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	648					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880832	82880832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82880832T>C	uc001ozx.3	+	8	3800	c.3455T>C	c.(3454-3456)TTC>TCC	p.F1152S	PCF11_uc010rsu.1_Missense_Mutation_p.F1283S	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1152					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375106	85375106	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85375106C>T	uc001pas.2	-	1	1077	c.814G>A	c.(814-816)GCC>ACC	p.A272T	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	272					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)														OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445705	85445705	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85445705G>T	uc010rth.1	-	6	940	c.664C>A	c.(664-666)CCA>ACA	p.P222T	SYTL2_uc010rtg.1_Missense_Mutation_p.P223T|SYTL2_uc010rti.1_Missense_Mutation_p.P222T|SYTL2_uc010rtj.1_Missense_Mutation_p.P174T|SYTL2_uc001pbf.3_Missense_Mutation_p.P222T|SYTL2_uc010rtf.1_Missense_Mutation_p.P80T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	222					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)														---	---	---	---
C11orf73	51501	broad.mit.edu	37	11	86017344	86017344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86017344T>C	uc001pbu.2	+	2	326	c.88T>C	c.(88-90)TAT>CAT	p.Y30H	C11orf73_uc001pbt.2_Missense_Mutation_p.Y30H|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	30						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)																---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86106389	86106389	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86106389T>C	uc001pbx.1	+	5	997	c.569T>C	c.(568-570)GTG>GCG	p.V190A	CCDC81_uc001pbw.1_Missense_Mutation_p.V100A|CCDC81_uc010rtq.1_5'UTR|CCDC81_uc001pby.1_5'UTR	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	190										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)																---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86665896	86665896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86665896G>A	uc001pce.2	-	1	538	c.232C>T	c.(232-234)CAG>TAG	p.Q78*	uc001pcf.2_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	78	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87029283	87029283	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:87029283T>C	uc001pch.2	+						TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Intron	NM_022918	NP_075069			transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88242507	88242507	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88242507G>A	uc001pcq.2	-	9	3092	c.2892C>T	c.(2890-2892)GGC>GGT	p.G964G	GRM5_uc009yvm.2_Silent_p.G932G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	964	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780887	88780887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780887C>T	uc001pcq.2	-	1	354	c.154G>A	c.(154-156)GTT>ATT	p.V52I	GRM5_uc009yvm.2_Missense_Mutation_p.V52I|GRM5_uc009yvn.1_Missense_Mutation_p.V52I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	52	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087436	92087436	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087436A>G	uc001pdj.3	+	1	2175	c.2158A>G	c.(2158-2160)AGA>GGA	p.R720G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	720	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087574	92087574	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92087574T>A	uc001pdj.3	+	1	2313	c.2296T>A	c.(2296-2298)TCA>ACA	p.S766T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92531257	92531257	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92531257T>A	uc001pdj.3	+	9	5095	c.5078T>A	c.(5077-5079)ATC>AAC	p.I1693N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1693	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534472	92534472	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92534472A>T	uc001pdj.3	+	9	8310	c.8293A>T	c.(8293-8295)ATT>TTT	p.I2765F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2765	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568120	92568120	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92568120C>A	uc001pdj.3	+	14	9973	c.9956C>A	c.(9955-9957)CCA>CAA	p.P3319Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3319	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616316	92616316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92616316G>A	uc001pdj.3	+	23	12711	c.12694G>A	c.(12694-12696)GTG>ATG	p.V4232M	FAT3_uc001pdi.3_Missense_Mutation_p.V672M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4232	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
MED17	9440	broad.mit.edu	37	11	93545200	93545200	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93545200T>C	uc001pem.3	+	12	2201	c.1926T>C	c.(1924-1926)CTT>CTC	p.L642L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	642					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
FOLR4	390243	broad.mit.edu	37	11	94038882	94038882	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94038882G>C	uc010rud.1	+	1	80	c.80G>C	c.(79-81)TGC>TCC	p.C27S		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	27						extracellular region	folic acid binding|receptor activity			ovary(1)	1																		---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134373	94134373	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94134373A>G	uc001pet.2	-	1	213	c.41T>C	c.(40-42)GTG>GCG	p.V14A		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	14						integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94200987	94200987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94200987G>A	uc001peu.2	-	10	1279	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	MRE11A_uc001pev.2_Nonsense_Mutation_p.R364*|MRE11A_uc009ywj.2_Nonsense_Mutation_p.R367*|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)											Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578206	95578206	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578206G>A	uc001pfu.2	-	11	1550	c.1297C>T	c.(1297-1299)CTC>TTC	p.L433F	MTMR2_uc001pfv.2_Missense_Mutation_p.L361F|MTMR2_uc001pfs.2_Missense_Mutation_p.L361F|MTMR2_uc001pft.2_Missense_Mutation_p.L361F|MTMR2_uc010ruj.1_Missense_Mutation_p.L416F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	433	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95578262	95578262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95578262A>G	uc001pfu.2	-	11	1494	c.1241T>C	c.(1240-1242)GTA>GCA	p.V414A	MTMR2_uc001pfv.2_Missense_Mutation_p.V342A|MTMR2_uc001pfs.2_Missense_Mutation_p.V342A|MTMR2_uc001pft.2_Missense_Mutation_p.V342A|MTMR2_uc010ruj.1_Missense_Mutation_p.V397A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95724805	95724805	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95724805T>C	uc001pfw.1	-	3	3507	c.2222A>G	c.(2221-2223)TAC>TGC	p.Y741C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	741					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)						T	MECT1|CRTC3	salivary gland mucoepidermoid								---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99931951	99931951	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99931951C>T	uc001pga.2	+	10	1327	c.988C>T	c.(988-990)CCA>TCA	p.P330S	CNTN5_uc009ywv.1_Missense_Mutation_p.P330S|CNTN5_uc001pfz.2_Missense_Mutation_p.P330S|CNTN5_uc001pgb.2_Missense_Mutation_p.P256S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	330	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101374854	101374854	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101374854A>G	uc001pgk.3	-	2	1271	c.846T>C	c.(844-846)AGT>AGC	p.S282S	TRPC6_uc009ywy.2_Silent_p.S282S|TRPC6_uc009ywz.1_Silent_p.S282S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	282	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375465	101375465	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101375465A>G	uc001pgk.3	-	2	660	c.235T>C	c.(235-237)TTA>CTA	p.L79L	TRPC6_uc009ywy.2_Silent_p.L79L|TRPC6_uc009ywz.1_Silent_p.L79L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	79	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101818760	101818760	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101818760A>G	uc001pgm.2	+	4	665	c.395_splice	c.e4-2	p.V132_splice	KIAA1377_uc001pgn.2_Splice_Site_p.V88_splice|KIAA1377_uc009yxa.1_Splice_Site	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834620	101834620	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101834620A>G	uc001pgm.2	+						KIAA1377_uc001pgn.2_Intron|KIAA1377_uc010run.1_Intron	NM_020802	NP_065853			hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
BIRC2	329	broad.mit.edu	37	11	102248433	102248433	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102248433A>G	uc001pgy.2	+	7	2972	c.1573A>G	c.(1573-1575)AAA>GAA	p.K525E	BIRC2_uc010ruq.1_Missense_Mutation_p.K476E|BIRC2_uc010rur.1_Missense_Mutation_p.K525E	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	525	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102482514	102482514	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102482514C>T	uc001phc.2	-	3	508	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	165					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102487565	102487565	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102487565T>C	uc001phc.2	-	2	365	c.352A>G	c.(352-354)AAA>GAA	p.K118E		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	118					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)														---	---	---	---
MMP27	64066	broad.mit.edu	37	11	102567160	102567160	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102567160C>T	uc001phd.1	-	6	867	c.844G>A	c.(844-846)GAC>AAC	p.D282N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	282					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)														---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102713491	102713491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102713491G>A	uc001phj.1	-	2	327	c.262C>T	c.(262-264)CGC>TGC	p.R88C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	88					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)													---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102980475	102980475	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102980475G>A	uc001pho.2	+	1	316	c.172G>A	c.(172-174)GCA>ACA	p.A58T	DYNC2H1_uc001phn.1_Missense_Mutation_p.A58T|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A58T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	58	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102988470	102988470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102988470C>T	uc001pho.2	+	6	1021	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q293*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.Q293*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	293	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103004387	103004387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103004387C>T	uc001pho.2	+	14	2201	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	DYNC2H1_uc001phn.1_Missense_Mutation_p.A686V|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A686V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	686	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103070066	103070066	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103070066C>A	uc001pho.2	+	49	8093	c.7949C>A	c.(7948-7950)TCA>TAA	p.S2650*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S2650*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2650	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103102032	103102032	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103102032C>G	uc001pho.2	+	60	9541	c.9397C>G	c.(9397-9399)CTT>GTT	p.L3133V	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3133V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3133	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103907793	103907793	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103907793A>T	uc001phr.2	+	1	486	c.243A>T	c.(241-243)GGA>GGT	p.G81G	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	81	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908242	103908242	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908242T>C	uc001phr.2	+	1	935	c.692T>C	c.(691-693)ATA>ACA	p.I231T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	231					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
CASP4	837	broad.mit.edu	37	11	104821692	104821692	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104821692A>G	uc001pid.1	-	4	579	c.506T>C	c.(505-507)CTG>CCG	p.L169P	CASP4_uc001pib.1_Missense_Mutation_p.L113P|CASP4_uc009yxg.1_Missense_Mutation_p.L78P|CASP4_uc010rux.1_Missense_Mutation_p.L169P	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	169					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)														---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869751	104869751	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869751T>G	uc010rva.1	-	7	989	c.957A>C	c.(955-957)AAA>AAC	p.K319N	CASP5_uc010ruz.1_Missense_Mutation_p.K332N|CASP5_uc010rvb.1_Missense_Mutation_p.K261N|CASP5_uc010rvc.1_Missense_Mutation_p.K177N|CASP5_uc009yxh.2_Missense_Mutation_p.K101N|CASP5_uc010rvd.1_Missense_Mutation_p.K101N	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	319					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105845262	105845262	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105845262A>G	uc001pix.2	+						GRIA4_uc001piw.2_Missense_Mutation_p.T879A|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820			glutamate receptor, ionotrophic, AMPA 4 isoform						glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)													---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105924271	105924271	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105924271T>A	uc001pja.2	-	4	1785	c.1145A>T	c.(1144-1146)GAT>GTT	p.D382V	KBTBD3_uc001pjb.2_Missense_Mutation_p.D382V|KBTBD3_uc009yxm.2_Missense_Mutation_p.D303V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	378	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)														---	---	---	---
SLC35F2	54733	broad.mit.edu	37	11	107682454	107682454	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107682454T>A	uc001pjq.2	-	3	774	c.353A>T	c.(352-354)GAT>GTT	p.D118V	SLC35F2_uc010rvu.1_5'UTR|SLC35F2_uc001pjs.2_Missense_Mutation_p.D118V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	118	Helical; (Potential).				transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)														---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107917050	107917050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107917050A>G	uc001pjv.2	+	3	855	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	63					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)														---	---	---	---
ATM	472	broad.mit.edu	37	11	108155161	108155161	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108155161C>A	uc001pkb.1	+	26	4339	c.3954C>A	c.(3952-3954)GTC>GTA	p.V1318V	ATM_uc009yxr.1_Silent_p.V1318V|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1318					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
ATM	472	broad.mit.edu	37	11	108199851	108199851	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108199851A>G	uc001pkb.1	+	49	7578	c.7193A>G	c.(7192-7194)TAC>TGC	p.Y2398C	ATM_uc009yxr.1_Missense_Mutation_p.Y2398C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Y1050C|ATM_uc001pkg.1_Missense_Mutation_p.Y755C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2398	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108547842	108547842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108547842A>G	uc001pkm.2	+	4	474	c.409A>G	c.(409-411)ACT>GCT	p.T137A	DDX10_uc001pkl.1_Missense_Mutation_p.T137A	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	137	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)				T	NUP98	AML*								---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110035934	110035934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110035934G>A	uc009yxw.2	+	6	2175	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	ZC3H12C_uc010rwc.1_Silent_p.L709L|ZC3H12C_uc010rwd.1_Silent_p.L709L|ZC3H12C_uc001pkr.3_Silent_p.L677L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	708							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)														---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111593434	111593434	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111593434T>C	uc001plt.2	+	14	2219	c.2101T>C	c.(2101-2103)TGC>CGC	p.C701R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	701					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3																		---	---	---	---
FDXACB1	91893	broad.mit.edu	37	11	111745746	111745746	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111745746T>C	uc001pmc.3	-	5	2072	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Y443C	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	592	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0																		---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111888543	111888543	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111888543T>C	uc001pml.2	+	20	2202	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DIXDC1_uc001pmm.2_Silent_p.D424D|DIXDC1_uc001pmn.2_Silent_p.D341D|DIXDC1_uc010rwq.1_Silent_p.D300D	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	635	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)														---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112071468	112071468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112071468T>C	uc001pnf.2	+	7	1115	c.998T>C	c.(997-999)TTT>TCT	p.F333S	BCO2_uc001pne.1_Missense_Mutation_p.F160S|BCO2_uc001png.2_Missense_Mutation_p.F260S|BCO2_uc001pnh.2_Missense_Mutation_p.F299S|BCO2_uc010rwt.1_Missense_Mutation_p.F228S|BCO2_uc009yyn.2_Missense_Mutation_p.F299S|BCO2_uc001pni.2_Missense_Mutation_p.F299S	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	333					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112072775	112072775	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112072775T>G	uc001pnf.2	+	8	1173	c.1056T>G	c.(1054-1056)CCT>CCG	p.P352P	BCO2_uc001pne.1_Silent_p.P179P|BCO2_uc001png.2_Silent_p.P279P|BCO2_uc001pnh.2_Silent_p.P318P|BCO2_uc010rwt.1_Silent_p.P247P|BCO2_uc009yyn.2_Silent_p.P318P|BCO2_uc001pni.2_Silent_p.P318P	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	352					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
PTS	5805	broad.mit.edu	37	11	112099313	112099313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112099313T>C	uc001pnj.3	+						PTS_uc009yyo.2_Intron	NM_000317	NP_000308			6-pyruvoyltetrahydropterin synthase						cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding				0		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113085138	113085138	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113085138G>A	uc009yyq.1	+	8	1304	c.610G>A	c.(610-612)GAG>AAG	p.E204K	NCAM1_uc001pno.2_Missense_Mutation_p.E204K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	322	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113103011	113103011	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113103011C>T	uc009yyq.1	+	12	1778	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	454	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113105824C>T	uc009yyq.1	+	15	2181	c.1487C>T	c.(1486-1488)GCG>GTG	p.A496V		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	588	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113210045	113210045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113210045C>T	uc001pnu.2	+	10	780	c.675C>T	c.(673-675)GAC>GAT	p.D225D	TTC12_uc001pnv.2_Silent_p.D231D|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.D75D	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	225							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283413	113283413	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113283413G>T	uc001pnz.2	-	6	1324	c.1003C>A	c.(1003-1005)CCC>ACC	p.P335T	DRD2_uc010rwv.1_Missense_Mutation_p.P334T|DRD2_uc001poa.3_Missense_Mutation_p.P335T|DRD2_uc001pob.3_Missense_Mutation_p.P306T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	335	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113295153	113295153	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113295153A>T	uc001pnz.2	-	1	542	c.221T>A	c.(220-222)GTC>GAC	p.V74D	DRD2_uc010rwv.1_Missense_Mutation_p.V74D|DRD2_uc001poa.3_Missense_Mutation_p.V74D|DRD2_uc001pob.3_Missense_Mutation_p.V74D|DRD2_uc009yyr.1_Missense_Mutation_p.V74D	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	74	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113644272	113644272	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113644272C>T	uc001poe.2	-						ZW10_uc009yyv.2_Intron	NM_004724	NP_004715			centromere/kinetochore protein zw10						cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700038	113700038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700038C>T	uc001poh.2	-	10	973	c.940G>A	c.(940-942)GGC>AGC	p.G314S	USP28_uc001pog.2_Missense_Mutation_p.G22S|USP28_uc010rwy.1_Missense_Mutation_p.G189S|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.G314S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	314					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
USP28	57646	broad.mit.edu	37	11	113700069	113700069	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113700069T>C	uc001poh.2	-	10	944	c.911_splice	c.e10-1	p.G304_splice	USP28_uc001pog.2_Silent_p.L11L|USP28_uc010rwy.1_Splice_Site_p.G179_splice|USP28_uc001poi.2_Splice_Site|USP28_uc001poj.3_Splice_Site_p.G304_splice	NM_020886	NP_065937			ubiquitin specific protease 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857522	113857522	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857522C>A	uc010rxb.1	+	7	1239	c.1006C>A	c.(1006-1008)CTT>ATT	p.L336I	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)													---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114112918	114112918	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114112918T>G	uc001pop.2	+	5	1747	c.1483T>G	c.(1483-1485)TGT>GGT	p.C495G	ZBTB16_uc001poq.2_Missense_Mutation_p.C495G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	495	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121116	114121116	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114121116C>A	uc001pop.2	+	7	2125	c.1861C>A	c.(1861-1863)CTG>ATG	p.L621M	ZBTB16_uc001poq.2_Missense_Mutation_p.L621M	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	621	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
NNMT	4837	broad.mit.edu	37	11	114182929	114182929	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114182929C>A	uc001por.1	+	5	789	c.525C>A	c.(523-525)ACC>ACA	p.T175T	NNMT_uc001pos.1_Silent_p.T175T	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	175					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)													---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114392823	114392823	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114392823T>A	uc001ppa.2	-	6	1502	c.1085A>T	c.(1084-1086)GAT>GTT	p.D362V	FAM55A_uc010rxd.1_Missense_Mutation_p.D211V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	504						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114401086	114401086	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661462	116661462	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661462C>A	uc001ppr.2	-	3	491	c.483G>T	c.(481-483)CAG>CAT	p.Q161H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Q161H|APOA5_uc009yzf.2_Missense_Mutation_p.Q161H|APOA5_uc009yzg.2_Missense_Mutation_p.Q187H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	161					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661593	116661593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661593C>T	uc001ppr.2	-	3	360	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.V118M|APOA5_uc009yzf.2_Missense_Mutation_p.V118M|APOA5_uc009yzg.2_Missense_Mutation_p.V144M	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	118	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116767020	116767020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116767020G>A	uc001ppy.2	-	6	676	c.640C>T	c.(640-642)CGG>TGG	p.R214W	SIK3_uc001ppz.2_Missense_Mutation_p.R113W|SIK3_uc001pqa.2_Missense_Mutation_p.R214W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	214	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12																		---	---	---	---
PAFAH1B2	5049	broad.mit.edu	37	11	117038342	117038342	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117038342G>A	uc001pqe.1	+	6	719	c.617G>A	c.(616-618)TGC>TAC	p.C206Y	PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	206					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)				T	IGH@	MLCLS								---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117066583C>T	uc001pqh.1	+	25	2429	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIDT2_uc010rxe.1_Silent_p.H796H|SIDT2_uc001pqg.2_Silent_p.H817H|SIDT2_uc001pqi.1_Silent_p.H793H|SIDT2_uc001pqj.1_Silent_p.H108H|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	796	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)														---	---	---	---
PCSK7	9159	broad.mit.edu	37	11	117089225	117089225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117089225C>A	uc001pqr.2	-	12	1692	c.1491G>T	c.(1489-1491)AAG>AAT	p.K497N		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	497	Homo B/P.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)				T	IGH@	MLCLS								---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117152804	117152804	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117152804T>C	uc001pqt.2	+	11	1575	c.1530T>C	c.(1528-1530)AAT>AAC	p.N510N	RNF214_uc001pqu.2_Silent_p.N510N|RNF214_uc010rxf.1_Silent_p.N355N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	510	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117155864	117155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117155864A>T	uc001pqt.2	+	15	2154	c.2109A>T	c.(2107-2109)AAA>AAT	p.K703N	RNF214_uc001pqu.2_Missense_Mutation_p.K703N|RNF214_uc010rxf.1_Missense_Mutation_p.K548N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	703							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310647	117310647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117310647C>T	uc001prh.1	-	22	4050	c.4048G>A	c.(4048-4050)GCA>ACA	p.A1350T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1290	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117351946	117351946	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117351946A>G	uc001prh.1	-	13	2781	c.2779T>C	c.(2779-2781)TGC>CGC	p.C927R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	867	Extracellular (Potential).|Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117376239	117376239	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117376239G>A	uc001prh.1	-	9	2174	c.2172C>T	c.(2170-2172)AAC>AAT	p.N724N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	664	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
SCN2B	6327	broad.mit.edu	37	11	118039292	118039292	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118039292G>T	uc001psf.2	-							NM_004588	NP_004579			sodium channel, voltage-gated, type II, beta						synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)														---	---	---	---
MPZL3	196264	broad.mit.edu	37	11	118106262	118106262	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118106262A>G	uc001psm.2	-	4	496	c.494T>C	c.(493-495)CTT>CCT	p.L165P	MPZL3_uc010rxy.1_Missense_Mutation_p.L153P|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	165	Helical; (Potential).				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)														---	---	---	---
CD3D	915	broad.mit.edu	37	11	118211157	118211157	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118211157T>A	uc001pss.1	-	2	344	c.207A>T	c.(205-207)GGA>GGT	p.G69G	CD3D_uc001pst.1_Silent_p.G69G	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	69	Extracellular (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118359369	118359369	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118359369T>C	uc001pta.2	+	11	4396	c.4373T>C	c.(4372-4374)TTT>TCT	p.F1458S	MLL_uc001ptb.2_Missense_Mutation_p.F1458S|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1458	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
MLL	4297	broad.mit.edu	37	11	118376836	118376836	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118376836C>T	uc001pta.2	+	27	10243	c.10220C>T	c.(10219-10221)CCA>CTA	p.P3407L	MLL_uc001ptb.2_Missense_Mutation_p.P3410L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3407					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
TMEM25	84866	broad.mit.edu	37	11	118403848	118403848	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118403848G>A	uc010rye.1	+	4	773	c.599G>A	c.(598-600)CGC>CAC	p.R200H	TMEM25_uc010ryd.1_Missense_Mutation_p.R200H|TMEM25_uc001ptk.3_Missense_Mutation_p.R200H|TMEM25_uc001pth.2_Missense_Mutation_p.R200H|TMEM25_uc009zad.2_Missense_Mutation_p.R200H|TMEM25_uc001pti.2_Missense_Mutation_p.R96H|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.R200H|TMEM25_uc001ptm.2_Missense_Mutation_p.R200H|TMEM25_uc001ptn.2_Missense_Mutation_p.R200H	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	200	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118416578	118416578	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118416578G>A	uc001ptp.1	-						TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Intron|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538			IFT46						flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0																		---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498402	118498402	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498402G>A	uc001ptr.1	+	7	1216	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PHLDB1_uc010ryh.1_Missense_Mutation_p.R287H|PHLDB1_uc001pts.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptt.2_Missense_Mutation_p.R288H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R88H|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	288											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498590	118498590	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498590C>T	uc001ptr.1	+	7	1404	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	PHLDB1_uc010ryh.1_Missense_Mutation_p.R350W|PHLDB1_uc001pts.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptt.2_Missense_Mutation_p.R351W|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R151W|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	351											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919507	118919507	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118919507A>G	uc001puu.2	-	18	2277	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	HYOU1_uc001put.2_Missense_Mutation_p.M660T|HYOU1_uc010ryu.1_Missense_Mutation_p.M653T|HYOU1_uc010ryv.1_Missense_Mutation_p.M584T|HYOU1_uc001pux.3_Missense_Mutation_p.M695T|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	695						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118922291	118922291	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118922291A>G	uc001puu.2	-	13	1578	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HYOU1_uc001put.2_Missense_Mutation_p.L427P|HYOU1_uc010ryu.1_Missense_Mutation_p.L482P|HYOU1_uc010ryv.1_Missense_Mutation_p.L351P|HYOU1_uc001pux.3_Missense_Mutation_p.L462P|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.L462P	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	462						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119059156	119059156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119059156G>A	uc001pwb.2	+	6	1677	c.1153G>A	c.(1153-1155)GTG>ATG	p.V385M	PDZD3_uc001pvy.2_Missense_Mutation_p.V305M|PDZD3_uc001pvz.2_Missense_Mutation_p.V319M|PDZD3_uc010rzd.1_Missense_Mutation_p.V306M|PDZD3_uc001pwa.2_Missense_Mutation_p.V15M			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	385	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)														---	---	---	---
MCAM	4162	broad.mit.edu	37	11	119185585	119185585	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119185585G>A	uc001pwf.2	-	3	387	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	120	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)														---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119205959	119205959	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119205959G>A	uc001pwh.2	+	1	723	c.127G>A	c.(127-129)GTC>ATC	p.V43I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	43	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)														---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119217211	119217211	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119217211A>G	uc001pwj.2	-	1	173	c.13T>C	c.(13-15)TCA>CCA	p.S5P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S5P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
USP2	9099	broad.mit.edu	37	11	119243939	119243939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119243939G>A	uc001pwm.3	-	2	547	c.252C>T	c.(250-252)GAC>GAT	p.D84D	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	84	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)														---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120169101	120169101	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120169101T>C	uc001pxc.2	+	4	360	c.258_splice	c.e4+2	p.Q86_splice	POU2F3_uc010rzk.1_Splice_Site_p.G25_splice|POU2F3_uc010rzl.1_Splice_Site_p.Q16_splice	NM_014352	NP_055167			POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)														---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120319906	120319906	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120319906G>A	uc001pxl.1	+	21	1833	c.1826G>A	c.(1825-1827)CGT>CAT	p.R609H	ARHGEF12_uc009zat.2_Missense_Mutation_p.R590H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R506H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R506H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	609					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996433	120996433	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120996433C>T	uc010rzo.1	+	7	1626	c.1626C>T	c.(1624-1626)GAC>GAT	p.D542D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	542					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120998788	120998788	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120998788G>A	uc010rzo.1	+	8	2102	c.2102G>A	c.(2101-2103)GGC>GAC	p.G701D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	701					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121429410	121429410	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121429410G>A	uc001pxx.2	+	20	2854	c.2774G>A	c.(2773-2775)GGC>GAC	p.G925D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	925	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121454212	121454212	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121454212G>A	uc001pxx.2	+	26	3706	c.3626G>A	c.(3625-3627)GGG>GAG	p.G1209E	SORL1_uc010rzp.1_Missense_Mutation_p.G55E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1209	Extracellular (Potential).|LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122756903	122756903	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122756903T>C	uc001pym.2	+	2	641	c.344_splice	c.e2+2	p.R115_splice	C11orf63_uc001pyl.1_Splice_Site_p.R115_splice	NM_024806	NP_079082			hypothetical protein LOC79864 isoform 1											ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774952	122774952	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774952T>A	uc001pym.2	+	3	961	c.664T>A	c.(664-666)TCG>ACG	p.S222T	C11orf63_uc001pyl.1_Missense_Mutation_p.S222T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	222										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774956	122774956	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122774956G>A	uc001pym.2	+	3	965	c.668G>A	c.(667-669)AGC>AAC	p.S223N	C11orf63_uc001pyl.1_Missense_Mutation_p.S223N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	223										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122805178	122805178	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122805178A>G	uc001pym.2	+	5	1326	c.1029A>G	c.(1027-1029)GTA>GTG	p.V343V		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	343										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929501	122929501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122929501T>C	uc001pyo.2	-	7	1439	c.1361A>G	c.(1360-1362)AAC>AGC	p.N454S	HSPA8_uc009zbc.2_Missense_Mutation_p.N218S|HSPA8_uc001pyp.2_Missense_Mutation_p.N454S|HSPA8_uc010rzu.1_Missense_Mutation_p.N377S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	454					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---
ASAM	79827	broad.mit.edu	37	11	122955429	122955429	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122955429A>G	uc001pyt.2	-							NM_024769	NP_079045			adipocyte-specific adhesion molecule precursor							integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777391	123777391	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123777391T>G	uc010saa.1	+	1	253	c.253T>G	c.(253-255)TTT>GTT	p.F85V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900356	123900356	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900356G>A	uc001pzp.1	+	1	27	c.27G>A	c.(25-27)GCG>GCA	p.A9A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124016061	124016061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124016061G>A	uc001pzu.2	+	18	2481	c.2272G>A	c.(2272-2274)GCC>ACC	p.A758T	VWA5A_uc001pzt.2_Missense_Mutation_p.A758T	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	758										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
OR8G2	26492	broad.mit.edu	37	11	124095831	124095831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124095831A>G	uc010saf.1	+	1	434	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	145						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	124135712	124135712	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124135712A>G								OR8G2 (39402 upstream) : OR8D1 (44025 downstream)																																			---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253182	124253182	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124253182G>A	uc010sai.1	-	1	58	c.58C>T	c.(58-60)CAT>TAT	p.H20Y	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124266612	124266612	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124266612A>G	uc010saj.1	-	1	636	c.636T>C	c.(634-636)TGT>TGC	p.C212C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310559	124310559	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310559A>G	uc010sal.1	-	1	423	c.423T>C	c.(421-423)TGT>TGC	p.C141C		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310909	124310909	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310909T>A	uc010sal.1	-	1	73	c.73A>T	c.(73-75)ATC>TTC	p.I25F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413100	124413100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413100C>T	uc010sam.1	-	1	451	c.451G>A	c.(451-453)GGG>AGG	p.G151R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413431C>T	uc010sam.1	-	1	120	c.120G>A	c.(118-120)GGG>GGA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124618372	124618372	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124618372C>T	uc001qas.2	-	6	841	c.765G>A	c.(763-765)TTG>TTA	p.L255L	VSIG2_uc001qat.2_Silent_p.L255L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	255	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)														---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124628331	124628331	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124628331T>C	uc001qav.3	-	2	336	c.163A>G	c.(163-165)ACC>GCC	p.T55A	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_5'Flank|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.T55A	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	55	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)												OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C11orf61	79684	broad.mit.edu	37	11	124637844	124637844	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124637844T>C	uc001qba.1	-	4	931	c.908A>G	c.(907-909)GAC>GGC	p.D303G	C11orf61_uc001qaz.1_Missense_Mutation_p.D251G|C11orf61_uc010sap.1_Missense_Mutation_p.D23G|C11orf61_uc001qay.1_Missense_Mutation_p.D73G	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	303											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)														---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766208	124766208	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124766208C>A	uc001qbg.2	-	4	705	c.565G>T	c.(565-567)GGG>TGG	p.G189W	ROBO4_uc010sas.1_Missense_Mutation_p.G44W|ROBO4_uc001qbh.2_Missense_Mutation_p.G79W|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	189	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124794859	124794859	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124794859C>T	uc001qbk.2	-	2	598	c.192G>A	c.(190-192)AGG>AGA	p.R64R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.R64R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	64	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)														---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857077	124857077	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124857077C>A	uc001qbm.3	+	8	1214	c.955C>A	c.(955-957)CAG>AAG	p.Q319K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	319						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)														---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124954765	124954765	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124954765C>T	uc001qbn.2	+	13	1421	c.1170C>T	c.(1168-1170)TCC>TCT	p.S390S	SLC37A2_uc010sau.1_Silent_p.S390S|SLC37A2_uc010sav.1_Silent_p.S15S|SLC37A2_uc001qbp.2_Silent_p.S15S	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	390					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)														---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125547886	125547886	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125547886G>A	uc001qcs.2	-	2	626	c.359C>T	c.(358-360)TCA>TTA	p.S120L	ACRV1_uc001qck.2_Missense_Mutation_p.S50L|ACRV1_uc001qcl.2_Missense_Mutation_p.S50L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S65L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S50L|ACRV1_uc001qcr.2_Missense_Mutation_p.S120L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	120	4 X 4 AA repeats of S-G-E-H.|2-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)														---	---	---	---
PUS3	83480	broad.mit.edu	37	11	125765945	125765945	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125765945A>C	uc001qcy.2	-	2	333	c.235T>G	c.(235-237)TTT>GTT	p.F79V	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	79						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)														---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125769525	125769525	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125769525A>C	uc009zbv.2	+	4	796	c.262A>C	c.(262-264)AGA>CGA	p.R88R	HYLS1_uc001qcx.3_Silent_p.R88R|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	88						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146977	126146977	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126146977G>A	uc001qdi.2	+	10	1160	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	FOXRED1_uc010sbn.1_Silent_p.P201P|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.P184P|FOXRED1_uc010sbq.1_Silent_p.P238P|FOXRED1_uc001qdj.2_Silent_p.P160P|FOXRED1_uc010sbr.1_Silent_p.P357P|FOXRED1_uc001qdk.2_Silent_p.P160P	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	371						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)														---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128786318	128786318	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128786318G>T	uc001qet.2	+	3	1266	c.952G>T	c.(952-954)GCC>TCC	p.A318S	KCNJ5_uc009zck.2_Missense_Mutation_p.A318S|KCNJ5_uc001qew.2_Missense_Mutation_p.A318S	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	318	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)													---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840677	128840677	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128840677T>C	uc009zcp.2	-	22	4389	c.4389A>G	c.(4387-4389)CAA>CAG	p.Q1463Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q422Q|ARHGAP32_uc001qez.2_Silent_p.Q1114Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1463	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129739947	129739947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129739947G>A	uc001qfi.2	-	24	3174	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	NFRKB_uc001qfg.2_Silent_p.T1016T|NFRKB_uc001qfh.2_Silent_p.T1014T|NFRKB_uc010sbw.1_Silent_p.T1001T|NFRKB_uc009zcr.2_Silent_p.T277T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	991					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)														---	---	---	---
ST14	6768	broad.mit.edu	37	11	130068525	130068525	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130068525C>T	uc001qfw.2	+							NM_021978	NP_068813			matriptase						proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)													---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275557	130275557	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130275557T>A	uc001qgg.3	-	9	2924	c.2566A>T	c.(2566-2568)ACT>TCT	p.T856S	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T337S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	856	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319172	130319172	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130319172T>C	uc010scd.1	+	1	304	c.304T>C	c.(304-306)TTC>CTC	p.F102L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)														---	---	---	---
SNX19	399979	broad.mit.edu	37	11	130775969	130775969	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130775969T>C	uc001qgk.3	-	7	2870	c.2322A>G	c.(2320-2322)TTA>TTG	p.L774L	SNX19_uc009zcw.2_Silent_p.L11L|SNX19_uc010sce.1_Silent_p.L154L|SNX19_uc010scf.1_Silent_p.L217L|SNX19_uc010scg.1_Silent_p.L11L|SNX19_uc001qgl.3_Silent_p.L757L|SNX19_uc009zcx.1_RNA	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	774					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)														---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132812874	132812874	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132812874G>A	uc001qgs.2	-	1	164	c.114C>T	c.(112-114)TTC>TTT	p.F38F	OPCML_uc001qgu.2_Silent_p.F31F|OPCML_uc010sck.1_Silent_p.F38F|OPCML_uc001qgt.2_Silent_p.F38F|OPCML_uc010scl.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	38					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790109	133790109	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181068	134181068	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134181068C>T	uc009zdf.2	+						GLB1L3_uc001qho.3_Intron	NM_001080407	NP_001073876			galactosidase, beta 1 like 3						carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)														---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247988	247988	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:247988G>A	uc001qhw.1	+	1	556	c.550G>A	c.(550-552)GAC>AAC	p.D184N	IQSEC3_uc001qhu.1_Missense_Mutation_p.D184N|IQSEC3_uc001qht.1_Missense_Mutation_p.D269N|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)														---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442787	442787	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:442787G>T	uc001qif.1	-	12	1882	c.1519C>A	c.(1519-1521)CCA>ACA	p.P507T	KDM5A_uc001qie.1_Missense_Mutation_p.P507T|KDM5A_uc010sdn.1_Missense_Mutation_p.P466T|KDM5A_uc010sdo.1_Missense_Mutation_p.P126T	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	507	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
WNK1	65125	broad.mit.edu	37	12	968488	968488	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:968488A>G	uc001qio.3	+	6	1985	c.1478A>G	c.(1477-1479)GAT>GGT	p.D493G	WNK1_uc001qip.3_Missense_Mutation_p.D493G|WNK1_uc001qir.3_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	493					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
HSN2	378465	broad.mit.edu	37	12	977470	977470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:977470C>T	uc001qiq.2	+	1	601	c.475C>T	c.(475-477)CGG>TGG	p.R159W	WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_213655	NP_998820			hereditary sensory neuropathy, type II												0	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994674	994674	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:994674T>A	uc001qio.3	+	19	5211	c.4704T>A	c.(4702-4704)CAT>CAA	p.H1568Q	WNK1_uc001qip.3_Missense_Mutation_p.H1321Q|WNK1_uc001qir.3_Missense_Mutation_p.H741Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1568					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1003798	1003798	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1003798T>C	uc001qio.3	+	23	6087	c.5580T>C	c.(5578-5580)TTT>TTC	p.F1860F	WNK1_uc001qip.3_Silent_p.F1612F|WNK1_uc001qir.3_Silent_p.F1033F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1860					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1006677	1006677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1006677G>A	uc001qio.3	+	25	6785	c.6278G>A	c.(6277-6279)CGC>CAC	p.R2093H	WNK1_uc001qip.3_Missense_Mutation_p.R1845H|WNK1_uc001qir.3_Missense_Mutation_p.R1266H|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2093					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1038990	1038990	+	Silent	SNP	G	A	A	rs144619978	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1038990G>A	uc001qis.1	-	5	457	c.343C>T	c.(343-345)CTG>TTG	p.L115L	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.L38L|RAD52_uc001qiu.1_Silent_p.L115L|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.L115L|RAD52_uc001qix.1_Silent_p.L115L	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	115					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1882031	1882031	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1882031T>C	uc001qjm.2	+	3	392	c.195T>C	c.(193-195)AGT>AGC	p.S65S	ADIPOR2_uc001qjn.2_Silent_p.S65S	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	65	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)															---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1983839	1983839	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1983839C>T	uc001qjp.2	-	18	2040	c.1809G>A	c.(1807-1809)CTG>CTA	p.L603L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	603	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2055377	2055377	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2055377T>C	uc001qjx.1	-	9	1929	c.1849A>G	c.(1849-1851)ATG>GTG	p.M617V	DCP1B_uc010sdy.1_Missense_Mutation_p.M515V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	617					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2102471	2102471	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2102471A>T	uc001qjx.1	-	3	358	c.278T>A	c.(277-279)TTC>TAC	p.F93Y	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F93Y	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	93					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2719827	2719827	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2719827G>A	uc009zdu.1	+	29	4052	c.3739G>A	c.(3739-3741)GTC>ATC	p.V1247I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1224I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1227I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1227I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1247I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1227I|CACNA1C_uc001qka.1_Missense_Mutation_p.V762I|CACNA1C_uc001qki.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V963I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V963I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1247	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2774756	2774756	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2774756C>T	uc009zdu.1	+	38	4865	c.4552C>T	c.(4552-4554)CTC>TTC	p.L1518F	CACNA1C_uc009zdv.1_Missense_Mutation_p.L1467F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1457F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1492F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1459F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1518F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1490F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1487F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1498F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1470F|CACNA1C_uc001qki.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L1206F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L1195F|CACNA1C_uc010sea.1_Missense_Mutation_p.L161F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1518	Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3388233	3388233	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3388233G>A	uc001qlp.2	+	5	477	c.330_splice	c.e5+1	p.K110_splice		NM_006675	NP_006666			tetraspanin 9							integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)															---	---	---	---
EFCAB4B	84766	broad.mit.edu	37	12	3768745	3768745	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3768745C>T	uc001qmj.2	-	8	1319	c.747G>A	c.(745-747)GAG>GAA	p.E249E	EFCAB4B_uc010sen.1_Silent_p.E249E|EFCAB4B_uc010seo.1_Silent_p.E249E|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	249	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---
C12orf4	57102	broad.mit.edu	37	12	4599042	4599042	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4599042A>T	uc001qms.2	-	14	1678	c.1590T>A	c.(1588-1590)TAT>TAA	p.Y530*	C12orf4_uc001qmt.2_Nonsense_Mutation_p.Y530*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	530											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)														---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4654960	4654960	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4654960T>A	uc001qmw.2	+	4	378	c.222T>A	c.(220-222)GGT>GGA	p.G74G	RAD51AP1_uc001qmu.2_Intron|RAD51AP1_uc001qmv.2_Silent_p.G20G|RAD51AP1_uc010sep.1_Intron|RAD51AP1_uc010seq.1_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	74					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
RAD51AP1	10635	broad.mit.edu	37	12	4657887	4657887	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4657887T>C	uc001qmw.2	+	7	648	c.492T>C	c.(490-492)GGT>GGC	p.G164G	RAD51AP1_uc001qmu.2_Silent_p.G147G|RAD51AP1_uc001qmv.2_Silent_p.G110G|RAD51AP1_uc010sep.1_Silent_p.G29G|RAD51AP1_uc010seq.1_Silent_p.G29G|RAD51AP1_uc009zeg.2_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	164					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4735822	4735822	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4735822G>A	uc001qnb.3	-	4	2475	c.2246C>T	c.(2245-2247)CCT>CTT	p.P749L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	749					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6																		---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4919490	4919490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4919490G>A	uc001qng.2	+	1	1149	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	95						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3															HNSCC(72;0.22)			---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020846	5020846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5020846G>A	uc001qnh.2	+	2	1407	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	101					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021176	5021176	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021176T>C	uc001qnh.2	+	2	1737	c.632T>C	c.(631-633)ATC>ACC	p.I211T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	211					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021662	5021662	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021662T>C	uc001qnh.2	+	2	2223	c.1118T>C	c.(1117-1119)GTA>GCA	p.V373A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	373	Selectivity filter (By similarity).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153531	5153531	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5153531C>T	uc001qni.2	+	1	447	c.218C>T	c.(217-219)CCG>CTG	p.P73L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	73	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.|2.					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154130	5154130	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154984	5154984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154984C>T	uc001qni.2	+	1	1900	c.1671C>T	c.(1669-1671)AGC>AGT	p.S557S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	557						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5744509	5744509	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5744509G>A	uc001qnm.2	-	17	1697	c.1625C>T	c.(1624-1626)GCC>GTC	p.A542V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	547	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6438737	6438737	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6438737C>T	uc001qnu.2	-	10	1390	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.R262H|TNFRSF1A_uc010sey.1_Missense_Mutation_p.R138H|TNFRSF1A_uc010sez.1_Missense_Mutation_p.R262H|TNFRSF1A_uc009zek.2_Missense_Mutation_p.R327H	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	370	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3																		---	---	---	---
VAMP1	6843	broad.mit.edu	37	12	6574081	6574081	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6574081A>G	uc001qok.2	-	4	461	c.315T>C	c.(313-315)TGT>TGC	p.C105C	TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Silent_p.C105C|VAMP1_uc001qol.2_Silent_p.C105C	NM_014231	NP_055046	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 isoform 1	105	Helical; Anchor for type IV membrane protein; (Potential).				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding				0					Botulinum Toxin Type B(DB00042)													---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6639009	6639009	+	Missense_Mutation	SNP	G	A	A	rs145700246	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6639009G>A	uc001qoo.2	+	29	3768	c.3722G>A	c.(3721-3723)CGT>CAT	p.R1241H	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1196H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6664471	6664471	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6664471T>C	uc001qpd.1	-	1	759	c.725A>G	c.(724-726)TAC>TGC	p.Y242C	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpf.1_Missense_Mutation_p.Y242C|IFFO1_uc001qpc.1_Missense_Mutation_p.Y242C	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	242	Potential.					intermediate filament					0																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6692213	6692213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6692213T>C	uc001qpo.2	-	27	4291	c.4127A>G	c.(4126-4128)GAC>GGC	p.D1376G	CHD4_uc001qpn.2_Missense_Mutation_p.D1369G|CHD4_uc001qpp.2_Missense_Mutation_p.D1401G|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1376					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6696652	6696652	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6696652G>A	uc001qpo.2	-	25	3941	c.3777C>T	c.(3775-3777)GAC>GAT	p.D1259D	CHD4_uc001qpn.2_Silent_p.D1252D|CHD4_uc001qpp.2_Silent_p.D1256D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1259					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
CD4	920	broad.mit.edu	37	12	6926284	6926284	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6926284G>A	uc001qqv.1	+						CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron|CD4_uc010sfm.1_Intron	NM_000616	NP_000607			CD4 antigen precursor						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
CD4	920	broad.mit.edu	37	12	6928489	6928489	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6928489C>A	uc001qqv.1	+	10	1616	c.1371C>A	c.(1369-1371)CCC>CCA	p.P457P	CD4_uc010sfj.1_Silent_p.P184P|CD4_uc009zfc.1_Silent_p.P278P|CD4_uc010sfk.1_Silent_p.P184P|CD4_uc010sfl.1_Silent_p.P184P|CD4_uc010sfm.1_Silent_p.P184P|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	457	Cytoplasmic (Potential).			Missing: Abolished interaction with SPG21 and induced T-cell activation.	cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
SPSB2	84727	broad.mit.edu	37	12	6981914	6981914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6981914T>C	uc001qrl.2	-	2	308	c.152A>G	c.(151-153)AAA>AGA	p.K51R	SPSB2_uc001qrm.2_Missense_Mutation_p.K51R|SPSB2_uc010sfp.1_Missense_Mutation_p.K51R|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	51	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1																OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	7015022	7015022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7015022C>T	uc001qrt.3	+	3	532	c.140C>T	c.(139-141)CCC>CTC	p.P47L	LRRC23_uc001qrn.1_Missense_Mutation_p.P47L|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.P47L|LRRC23_uc001qrq.2_Missense_Mutation_p.P47L|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Missense_Mutation_p.P47L	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	47										ovary(1)	1																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7043403	7043403	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7043403G>A	uc001qrw.1	+	3	329	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ATN1_uc001qrx.1_Missense_Mutation_p.G31D|ATN1_uc001qry.1_Missense_Mutation_p.G31D	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	31	Nuclear localization signal.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7046281	7046281	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7046281C>T	uc001qrw.1	+	5	2088	c.1851C>T	c.(1849-1851)GTC>GTT	p.V617V	ATN1_uc001qrx.1_Silent_p.V617V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	617					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7047957	7047957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7047957A>G	uc001qrw.1	+	7	3068	c.2831A>G	c.(2830-2832)GAC>GGC	p.D944G	ATN1_uc001qrx.1_Missense_Mutation_p.D944G	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	944					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
PHB2	11331	broad.mit.edu	37	12	7079581	7079581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7079581G>A	uc001qsd.2	-	1	336	c.126C>T	c.(124-126)ACC>ACT	p.T42T	PHB2_uc010sft.1_Silent_p.T42T|PHB2_uc010sfu.1_Silent_p.T42T|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	42	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7087608	7087608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7087608T>G	uc001qsi.2	-	9	1049	c.935A>C	c.(934-936)AAG>ACG	p.K312T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.K206T|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.K170T	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	312					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7289485	7289485	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7289485C>T	uc001qsr.2	+	7	1267	c.989C>T	c.(988-990)GCA>GTA	p.A330V	CLSTN3_uc001qss.2_Missense_Mutation_p.A342V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	330	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7290632	7290632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7290632G>A	uc001qsr.2	+	8	1570	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CLSTN3_uc001qss.2_Missense_Mutation_p.R443H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	431	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295461	7295461	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295461C>A	uc001qsr.2	+						CLSTN3_uc001qss.2_Intron	NM_014718	NP_055533			calsyntenin 3 precursor						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295559	7295559	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295559C>T	uc001qsr.2	+	11	1913	c.1635C>T	c.(1633-1635)TGC>TGT	p.C545C	CLSTN3_uc001qss.2_Silent_p.C557C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	545	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361760	7361760	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7361760T>C	uc009zfu.1	+	15	2134	c.1554T>C	c.(1552-1554)CGT>CGC	p.R518R	PEX5_uc001qsw.2_Silent_p.R518R|PEX5_uc010sgc.1_Silent_p.R533R|PEX5_uc001qsu.2_Silent_p.R481R|PEX5_uc010sgd.1_Silent_p.R539R|PEX5_uc001qsv.2_Silent_p.R510R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	518	TPR 5.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CD163	9332	broad.mit.edu	37	12	7653746	7653746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7653746A>G	uc001qsz.3	-	3	574	c.446T>C	c.(445-447)GTG>GCG	p.V149A	CD163_uc001qta.3_Missense_Mutation_p.V149A|CD163_uc009zfw.2_Missense_Mutation_p.V149A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	149	SRCR 1.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805322	7805322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7805322G>A	uc001qtb.2	-	3	188	c.154C>T	c.(154-156)CGA>TGA	p.R52*	APOBEC1_uc001qtc.2_Nonsense_Mutation_p.R7*|APOBEC1_uc010sgf.1_Nonsense_Mutation_p.R52*	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	52					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0																		---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8203211	8203211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8203211G>A	uc001qtu.2	+	10	2716	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)														---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212130	8212130	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8212130T>C	uc001qtv.1	-	2	744	c.652A>G	c.(652-654)ACA>GCA	p.T218A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	218	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)														---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8803195	8803195	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8803195C>T	uc001qut.1	-						MFAP5_uc001qus.2_Intron|MFAP5_uc009zge.1_Intron	NM_003480	NP_003471			microfibrillar associated protein 5 precursor							microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)																	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8990998	8990998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8990998T>C	uc001quz.3	+	9	1020	c.922T>C	c.(922-924)TAC>CAC	p.Y308H		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	152						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9004515	9004515	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9004515C>T	uc001quz.3	+	19	2468	c.2370C>T	c.(2368-2370)TTC>TTT	p.F790F	A2ML1_uc001qva.1_Silent_p.F370F|A2ML1_uc010sgm.1_Silent_p.F290F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	634						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9007372	9007372	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9007372G>A	uc001quz.3	+						A2ML1_uc001qva.1_Intron|A2ML1_uc010sgm.1_Intron	NM_144670	NP_653271			alpha-2-macroglobulin-like 1 precursor							extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9089499	9089499	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9089499T>A	uc001qvd.2	+	12	2572	c.2416T>A	c.(2416-2418)TAC>AAC	p.Y806N	PHC1_uc001qve.2_Missense_Mutation_p.Y806N	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	806	FCS-type.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
A2M	2	broad.mit.edu	37	12	9221379	9221379	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9221379A>T	uc001qvk.1	-	34	4436	c.4323T>A	c.(4321-4323)GAT>GAA	p.D1441E	A2M_uc001qvj.1_Missense_Mutation_p.D483E|A2M_uc009zgk.1_Missense_Mutation_p.D1291E	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1441					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
A2M	2	broad.mit.edu	37	12	9262545	9262545	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9262545C>A	uc001qvk.1	-	6	704	c.591G>T	c.(589-591)GAG>GAT	p.E197D	A2M_uc009zgk.1_Missense_Mutation_p.E47D	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
PZP	5858	broad.mit.edu	37	12	9316284	9316284	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9316284T>C	uc001qvl.2	-	21	2745	c.2716A>G	c.(2716-2718)ATC>GTC	p.I906V	PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---
CLEC12B	387837	broad.mit.edu	37	12	10163385	10163385	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10163385A>G	uc001qwz.2	+	1	155	c.27A>G	c.(25-27)ACA>ACG	p.T9T	CLEC12B_uc001qww.1_Silent_p.T9T|CLEC12B_uc001qwx.1_Silent_p.T9T|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	9	Cytoplasmic (Potential).|ITIM motif.					integral to membrane|plasma membrane	receptor activity|sugar binding				0																		---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10213735	10213735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10213735T>C	uc001qxa.2	+	6	795	c.182T>C	c.(181-183)GTG>GCG	p.V61A		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	61	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1																		---	---	---	---
CLEC7A	64581	broad.mit.edu	37	12	10278009	10278009	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10278009A>G	uc001qxg.2	-	4	566	c.379T>C	c.(379-381)TAT>CAT	p.Y127H	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxh.2_Missense_Mutation_p.Y81H|CLEC7A_uc001qxi.2_Missense_Mutation_p.Y127H|CLEC7A_uc001qxj.2_Missense_Mutation_p.Y48H|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.Y127H|CLEC7A_uc010sgy.1_Missense_Mutation_p.Y81H|CLEC7A_uc001qxm.1_Missense_Mutation_p.Y81H	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	127	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1																		---	---	---	---
KLRC4	8302	broad.mit.edu	37	12	10561587	10561587	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10561587C>T	uc001qye.2	-	2	392	c.210G>A	c.(208-210)AAG>AAA	p.K70K	KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	70	Cytoplasmic (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0																		---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10777265	10777265	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10777265C>T	uc001qys.2	-	8	1432	c.911G>A	c.(910-912)AGC>AAC	p.S304N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	304	Protein kinase.			S -> R (in Ref. 1; AAK34949 and 2; AAT01226).		integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8															HNSCC(73;0.22)			---	---	---	---
TAS2R13	50838	broad.mit.edu	37	12	11061110	11061110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11061110T>C	uc001qzg.1	-	1	1052	c.788A>G	c.(787-789)TAC>TGC	p.Y263C	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	263	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2																		---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12022490	12022490	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12022490G>A	uc001qzz.2	+	5	870	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	199						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)						T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								---	---	---	---
GPRC5D	55507	broad.mit.edu	37	12	13095228	13095228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13095228T>C	uc010shp.1	-	2	930	c.930A>G	c.(928-930)GCA>GCG	p.A310A		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)														---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716607	13716607	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13716607C>T	uc001rbt.2	-	13	3744	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1189	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768096	13768096	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13768096C>T	uc001rbt.2	-	7	1785	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	536	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13828667	13828667	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13828667G>T	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14577340	14577340	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14577340C>T	uc001rbw.2	+	2	649	c.491C>T	c.(490-492)CCC>CTC	p.P164L	ATF7IP_uc010shs.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbu.2_Missense_Mutation_p.P164L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P164L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P164L|ATF7IP_uc010sht.1_Missense_Mutation_p.P164L|ATF7IP_uc001rby.3_Missense_Mutation_p.P164L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P164L|ATF7IP_uc001rca.2_Missense_Mutation_p.P164L|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	164					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14649274	14649274	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14649274T>C	uc001rbw.2	+	14	3548	c.3390T>C	c.(3388-3390)CAT>CAC	p.H1130H	ATF7IP_uc001rbx.2_Silent_p.H1129H|ATF7IP_uc001rby.3_Silent_p.H1130H|ATF7IP_uc001rca.2_Silent_p.H1130H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1130					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14804958	14804958	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14804958T>A	uc001rcd.2	-	14	1677	c.1540A>T	c.(1540-1542)ATT>TTT	p.I514F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	514	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14813967	14813967	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14813967T>C	uc001rcd.2	-	11	1449	c.1312A>G	c.(1312-1314)ACC>GCC	p.T438A		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	438	Helical; (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14822720	14822720	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14822720A>G	uc001rcd.2	-	10	1355	c.1218T>C	c.(1216-1218)CCT>CCC	p.P406P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	406	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14849242	14849242	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14849242A>G	uc001rcd.2	-	1	278	c.141T>C	c.(139-141)TTT>TTC	p.F47F	GUCY2C_uc009zhz.2_Silent_p.F47F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	47	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14954271	14954271	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14954271T>C	uc001rci.2	-	2	208	c.47A>G	c.(46-48)AAC>AGC	p.N16S	C12orf60_uc001rcj.3_5'Flank	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	16	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15652375	15652375	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15652375G>T	uc001rcv.1	+	4	683	c.509_splice	c.e4-1	p.D170_splice	PTPRO_uc001rcw.1_Splice_Site_p.D170_splice|PTPRO_uc001rcu.1_Splice_Site_p.D170_splice	NM_030667	NP_109592			receptor-type protein tyrosine phosphatase O							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15679131	15679131	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15679131A>C	uc001rcv.1	+	12	2273	c.2099A>C	c.(2098-2100)AAC>ACC	p.N700T	PTPRO_uc001rcw.1_Missense_Mutation_p.N700T	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	700	Fibronectin type-III 7.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15803899	15803899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15803899G>A	uc009zif.2	-	14	1386	c.1292C>T	c.(1291-1293)CCA>CTA	p.P431L	EPS8_uc001rdb.2_Missense_Mutation_p.P431L|EPS8_uc009zig.2_Missense_Mutation_p.P171L|EPS8_uc010shv.1_Missense_Mutation_p.P171L	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	431	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15811494	15811494	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15811494T>C	uc009zif.2	-	11	1057	c.963A>G	c.(961-963)AAA>AAG	p.K321K	EPS8_uc001rdb.2_Silent_p.K321K|EPS8_uc009zig.2_Silent_p.K61K|EPS8_uc010shv.1_Silent_p.K61K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	321					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16035702	16035702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16035702G>A	uc001rdc.3	+	1	415	c.61G>A	c.(61-63)GCC>ACC	p.A21T	STRAP_uc010shw.1_Missense_Mutation_p.A21T|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	21	WD 1.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)																---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19593269	19593269	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19593269T>C	uc001ref.2	+	1	662	c.636T>C	c.(634-636)GAT>GAC	p.D212D	AEBP2_uc001ree.2_Silent_p.D212D|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	212	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19615467	19615467	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19615467T>C	uc001ref.2	+	2	721	c.695T>C	c.(694-696)GTA>GCA	p.V232A	AEBP2_uc001ree.2_Missense_Mutation_p.V232A|AEBP2_uc001reg.1_Missense_Mutation_p.V3A	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	232	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19671029	19671029	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19671029C>T	uc001ref.2	+	8	1516	c.1490C>T	c.(1489-1491)CCG>CTG	p.P497L	AEBP2_uc001ree.2_Missense_Mutation_p.P497L|AEBP2_uc001reg.1_Missense_Mutation_p.P268L	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	497	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)																	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20803459	20803459	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20803459T>C	uc001reh.1	+	14	2872	c.2850T>C	c.(2848-2850)GAT>GAC	p.D950D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	950	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)													---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21033815	21033815	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21033815A>T	uc001rek.2	+	11	1484	c.1358A>T	c.(1357-1359)GAT>GTT	p.D453V	SLCO1B3_uc001rel.2_Missense_Mutation_p.D453V|SLCO1B3_uc010sil.1_Missense_Mutation_p.D453V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D278V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	453	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---
LST-3TM12	338821	broad.mit.edu	37	12	21201738	21201738	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21201738T>A	uc010sin.1	+	8	1087	c.1087T>A	c.(1087-1089)TTG>ATG	p.L363M	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L410M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	363						membrane	transporter activity				0																		---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21327601	21327601	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21327601T>A	uc001req.3	+	4	421	c.317T>A	c.(316-318)ATT>AAT	p.I106N		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	106	Helical; Name=3; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377697	21377697	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21377697A>G	uc001req.3	+	14	1893	c.1789A>G	c.(1789-1791)ACA>GCA	p.T597A		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	597	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21636379	21636379	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21636379T>C	uc001rex.2	-	7	979	c.631A>G	c.(631-633)AGG>GGG	p.R211G	RECQL_uc001rey.2_Missense_Mutation_p.R211G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21981972	21981972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21981972G>A	uc001rfi.1	-	29	3609	c.3589C>T	c.(3589-3591)CGT>TGT	p.R1197C	ABCC9_uc001rfh.2_Missense_Mutation_p.R1197C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1161C	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1197	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22069897	22069897	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22069897C>T	uc001rfi.1	-	4	567	c.547G>A	c.(547-549)GTG>ATG	p.V183M	ABCC9_uc001rfh.2_Missense_Mutation_p.V183M|ABCC9_uc001rfj.1_Missense_Mutation_p.V183M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	183	Helical; Name=5; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22078945	22078945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22078945C>T	uc001rfi.1	-	3	357	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ABCC9_uc001rfh.2_Missense_Mutation_p.V113I|ABCC9_uc001rfj.1_Missense_Mutation_p.V113I|ABCC9_uc001rfk.2_Missense_Mutation_p.V113I|ABCC9_uc001rfl.1_Missense_Mutation_p.V113I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	113	Helical; Name=3; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23893932	23893932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23893932C>A	uc001rfw.2	-	5	712	c.610G>T	c.(610-612)GGT>TGT	p.G204C	SOX5_uc001rfx.2_Missense_Mutation_p.G191C|SOX5_uc001rfy.2_Missense_Mutation_p.G191C|SOX5_uc010siv.1_Missense_Mutation_p.G191C|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G156C	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	204	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23999138	23999138	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:23999138A>G	uc001rfw.2	-						SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron|SOX5_uc010siv.1_Intron|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_008871			SRY (sex determining region Y)-box 5 isoform a						transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6																		---	---	---	---
MIR920	100126320	broad.mit.edu	37	12	24365362	24365362	+	RNA	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24365362T>G	hsa-mir-920|MI0005712	+			c.8T>G			SOX5_uc001rfx.2_Intron|SOX5_uc001rfy.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	24736709	24736709	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24736709G>T	uc001rgb.1	-	1		c.394C>A								Homo sapiens cDNA FLJ32894 fis, clone TESTI2004994.																														---	---	---	---
IFLTD1	160492	broad.mit.edu	37	12	25702341	25702341	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25702341T>C	uc001rgs.2	-	2	316	c.166A>G	c.(166-168)AGT>GGT	p.S56G	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S77G|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S77G	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	56						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26571996	26571996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26571996A>G	uc001rhg.2	-	50	7513	c.7096T>C	c.(7096-7098)TTC>CTC	p.F2366L	ITPR2_uc009zjg.1_Missense_Mutation_p.F517L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2366	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26709200	26709200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26709200C>T	uc001rhg.2	-	36	5347	c.4930G>A	c.(4930-4932)GAT>AAT	p.D1644N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1644	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26774071	26774071	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26774071A>G	uc001rhg.2	-	26	3864	c.3447T>C	c.(3445-3447)GGT>GGC	p.G1149G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1149	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26864129	26864129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26864129T>A	uc001rhg.2	-	9	1345	c.928A>T	c.(928-930)ACT>TCT	p.T310S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	310	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
C12orf11	55726	broad.mit.edu	37	12	27087529	27087529	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27087529A>G	uc001rhk.3	-	3	797	c.260T>C	c.(259-261)GTT>GCT	p.V87A	C12orf11_uc010sjk.1_Intron	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	87					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)																	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143484	27143484	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27143484A>G	uc010sjl.1	-	6	1005	c.767T>C	c.(766-768)GTC>GCC	p.V256A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	256						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)																	---	---	---	---
MED21	9412	broad.mit.edu	37	12	27179427	27179427	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27179427G>T	uc001rhp.1	+	2	147	c.117G>T	c.(115-117)CAG>CAT	p.Q39H	MED21_uc009zjh.1_Intron	NM_004264	NP_004255	Q13503	MED21_HUMAN	mediator complex subunit 21	39					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity				0	Colorectal(261;0.0847)																	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29485537	29485537	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29485537T>C	uc001ris.3	+	11	1409	c.1262T>C	c.(1261-1263)TTC>TCC	p.F421S	FAR2_uc001rit.2_Missense_Mutation_p.F421S|FAR2_uc009zjm.2_Missense_Mutation_p.F324S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	421					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29592296	29592296	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29592296T>C	uc001rix.1	-	26	3229	c.3229A>G	c.(3229-3231)AAC>GAC	p.N1077D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1077					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29596436	29596436	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29596436A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29626041	29626041	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29626041A>G	uc001rix.1	-							NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29630380	29630380	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29630380T>C	uc001rix.1	-	11	1140	c.1140A>G	c.(1138-1140)CCA>CCG	p.P380P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	380	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29665046	29665046	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29665046C>G	uc001rjb.2	-	17	2588	c.2114G>C	c.(2113-2115)AGA>ACA	p.R705T	TMTC1_uc001riz.2_Missense_Mutation_p.R462T|TMTC1_uc001rja.2_Missense_Mutation_p.R549T|TMTC1_uc001riy.2_Missense_Mutation_p.R158T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	813	TPR 9.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)																	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30805933	30805933	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30805933A>G	uc001rjd.2	-	18	2212	c.2042T>C	c.(2041-2043)GTG>GCG	p.V681A	IPO8_uc001rje.1_Missense_Mutation_p.V170A|IPO8_uc010sjt.1_Missense_Mutation_p.V476A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	681					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30869619	30869619	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30869619A>T	uc001rji.1	-						CAPRIN2_uc001rjf.1_Intron|CAPRIN2_uc001rjg.1_Intron|CAPRIN2_uc001rjh.1_Intron|CAPRIN2_uc001rjj.1_Intron|CAPRIN2_uc001rjk.3_Intron|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259			C1q domain containing 1 isoform 1						negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30882246	30882246	+	Missense_Mutation	SNP	C	T	T	rs146283389	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30882246C>T	uc001rji.1	-	8	1869	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R170H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R373H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R373H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R40H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R40H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	373					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30887988	30887988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30887988A>G	uc001rji.1	-	4	1474	c.723T>C	c.(721-723)AAT>AAC	p.N241N	CAPRIN2_uc001rjf.1_Silent_p.N38N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.N241N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.N241N|CAPRIN2_uc001rjl.3_Silent_p.N241N	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	241					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	31301814	31301814	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31301814C>T	uc010sjy.1	-	10	1138	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K						RecName: Full=Ovostatin homolog 1; Flags: Precursor;																														---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31605416	31605416	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31605416A>C	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Intron|DENND5B_uc001rkk.1_Intron	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C12orf35	55196	broad.mit.edu	37	12	32135177	32135177	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32135177A>T	uc001rks.2	+	4	1702	c.1288A>T	c.(1288-1290)ACT>TCT	p.T430S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	430										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32860353	32860353	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32860353C>T	uc001rld.2	+						DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Intron|DNM1L_uc001rlg.2_Intron|DNM1L_uc001rlh.2_Intron|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192			dynamin 1-like isoform 1						cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32993959	32993959	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32993959T>C	uc001rlj.3	-						PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	NM_004572	NP_004563			plakophilin 2 isoform 2b						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33592387	33592387	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33592387C>T	uc001rll.1	-	1	368	c.71G>A	c.(70-72)TGC>TAC	p.C24Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	24	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)																	---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34179794	34179794	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:34179794C>A	uc001rlm.2	+	3	1685	c.1366C>A	c.(1366-1368)CTG>ATG	p.L456M		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	456	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)																---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39751199	39751199	+	Missense_Mutation	SNP	T	A	A	rs145427361		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39751199T>A	uc001rly.2	-	9	1402	c.1256A>T	c.(1255-1257)AAT>ATT	p.N419I	KIF21A_uc001rlx.2_Missense_Mutation_p.N419I|KIF21A_uc001rlz.2_Missense_Mutation_p.N419I|KIF21A_uc010skl.1_Missense_Mutation_p.N419I|KIF21A_uc001rma.1_Missense_Mutation_p.N427I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	419	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40677882	40677882	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40677882C>A	uc001rmg.3	+	19	2568	c.2447C>A	c.(2446-2448)TCT>TAT	p.S816Y	LRRK2_uc001rmh.1_Missense_Mutation_p.S438Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327636	41327636	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41327636A>G	uc001rmm.1	+	9	1054	c.941A>G	c.(940-942)AAC>AGC	p.N314S	CNTN1_uc009zjy.1_Missense_Mutation_p.N314S|CNTN1_uc001rmn.1_Missense_Mutation_p.N303S|CNTN1_uc001rmo.2_Missense_Mutation_p.N314S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	314	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41374737	41374737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41374737A>G	uc001rmm.1	+	16	1944	c.1831A>G	c.(1831-1833)AGA>GGA	p.R611G	CNTN1_uc001rmn.1_Missense_Mutation_p.R600G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	611	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41961604	41961604	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41961604A>G	uc010skn.1	+	9	958	c.890A>G	c.(889-891)GAA>GGA	p.E297G	PDZRN4_uc001rmq.3_Missense_Mutation_p.E238G|PDZRN4_uc009zjz.2_Missense_Mutation_p.E236G|PDZRN4_uc001rmr.2_Missense_Mutation_p.E123G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	496							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)																---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42512919	42512919	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42512919A>G	uc001rms.3	-	3	594	c.369T>C	c.(367-369)TGT>TGC	p.C123C	GXYLT1_uc001rmt.3_Silent_p.C92C	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	123	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42745851	42745851	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42745851A>G	uc001rng.1	+	3	342	c.237A>G	c.(235-237)GGA>GGG	p.G79G	PPHLN1_uc001rmy.2_Silent_p.G97G|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Silent_p.G86G|PPHLN1_uc001rnb.2_Silent_p.G86G|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Silent_p.G79G|PPHLN1_uc001rnf.2_Silent_p.G79G|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	79					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)														---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43846182	43846182	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43846182A>G	uc010skx.1	-	14	1974	c.1974T>C	c.(1972-1974)TGT>TGC	p.C658C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44338087	44338087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44338087T>C	uc001rod.2	+	3	418	c.352T>C	c.(352-354)TTT>CTT	p.F118L	TMEM117_uc001roe.2_Missense_Mutation_p.L47P|TMEM117_uc009zkc.2_Missense_Mutation_p.F118L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	118	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44782428	44782428	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782428G>T	uc001rod.2	+	8	1584	c.1518G>T	c.(1516-1518)ACG>ACT	p.T506T	TMEM117_uc001roe.2_Silent_p.T402T|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46231180	46231180	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46231180A>T	uc001ros.1	+	9	1100	c.1100A>T	c.(1099-1101)GAT>GTT	p.D367V	ARID2_uc001ror.2_Missense_Mutation_p.D367V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.D13V|ARID2_uc001rot.1_Missense_Mutation_p.D13V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	367					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245033	46245033	+	Nonsense_Mutation	SNP	C	T	T	rs139789595		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245033C>T	uc001ros.1	+	15	3127	c.3127C>T	c.(3127-3129)CAA>TAA	p.Q1043*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1043*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q499*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q670*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q377*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1043	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1043*(1)		ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245055	46245055	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245055G>C	uc001ros.1	+	15	3149	c.3149G>C	c.(3148-3150)GGT>GCT	p.G1050A	ARID2_uc001ror.2_Missense_Mutation_p.G1050A|ARID2_uc009zkg.1_Missense_Mutation_p.G506A|ARID2_uc009zkh.1_Missense_Mutation_p.G677A|ARID2_uc001rou.1_Missense_Mutation_p.G384A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1050	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246402	46246402	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46246402T>C	uc001ros.1	+	15	4496	c.4496T>C	c.(4495-4497)CTA>CCA	p.L1499P	ARID2_uc001ror.2_Missense_Mutation_p.L1499P|ARID2_uc009zkg.1_Missense_Mutation_p.L955P|ARID2_uc009zkh.1_Missense_Mutation_p.L1126P|ARID2_uc001rou.1_Missense_Mutation_p.L833P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1499					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46316789	46316789	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46316789G>A	uc001rox.2	-	13	4342	c.4055C>T	c.(4054-4056)GCT>GTT	p.A1352V	SFRS2IP_uc001row.2_Missense_Mutation_p.A1037V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1352					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46320326	46320326	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46320326T>C	uc001rox.2	-	11	3445	c.3158A>G	c.(3157-3159)GAA>GGA	p.E1053G	SFRS2IP_uc001row.2_Missense_Mutation_p.E738G|SFRS2IP_uc001roy.1_Missense_Mutation_p.E1127G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1053					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46321589	46321589	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46321589A>G	uc001rox.2	-	11	2182	c.1895T>C	c.(1894-1896)GTT>GCT	p.V632A	SFRS2IP_uc001row.2_Missense_Mutation_p.V317A|SFRS2IP_uc001roy.1_Missense_Mutation_p.V706A	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	632					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46756850	46756850	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46756850G>A	uc001rpg.2	-	13	1573	c.1133C>T	c.(1132-1134)GCT>GTT	p.A378V	SLC38A2_uc010sli.1_Missense_Mutation_p.A216V|SLC38A2_uc001rph.2_Missense_Mutation_p.A278V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	378	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A2	54407	broad.mit.edu	37	12	46764393	46764393	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46764393G>T	uc001rpg.2	-	4	656	c.216C>A	c.(214-216)TCC>TCA	p.S72S	SLC38A2_uc001rph.2_Intron	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	72	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)														---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172470	47172470	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47172470C>T	uc001rpi.2	-	11	1206	c.807G>A	c.(805-807)ATG>ATA	p.M269I	SLC38A4_uc001rpj.2_Missense_Mutation_p.M269I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	269	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48367266	48367266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48367266A>G	uc001rqu.2	-	54	4569	c.4388T>C	c.(4387-4389)ATT>ACT	p.I1463T	COL2A1_uc001rqt.2_Missense_Mutation_p.I244T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1394T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1463	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48369119	48369119	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48369119G>A	uc001rqu.2	-	51	4048	c.3867C>T	c.(3865-3867)TGC>TGT	p.C1289C	COL2A1_uc001rqt.2_Silent_p.C70C|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.C1220C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1289	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48442746	48442746	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48442746A>G	uc001rqx.2	-	14	2023	c.1577T>C	c.(1576-1578)GTG>GCG	p.V526A	SENP1_uc001rqw.2_Missense_Mutation_p.V526A|SENP1_uc001rqy.2_Missense_Mutation_p.V327A|SENP1_uc001rqz.2_Missense_Mutation_p.V327A|SENP1_uc009zkx.2_Missense_Mutation_p.V526A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	526	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)																---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48535570	48535570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48535570A>C	uc001rrc.2	+	16	1630	c.1460A>C	c.(1459-1461)AAG>ACG	p.K487T	PFKM_uc001rra.1_Missense_Mutation_p.K172T|PFKM_uc001rrb.1_Missense_Mutation_p.K558T|PFKM_uc001rrd.2_Missense_Mutation_p.K172T|PFKM_uc001rre.1_Missense_Mutation_p.K487T|PFKM_uc001rrg.1_Missense_Mutation_p.K456T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	487					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49162816	49162816	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49162816A>G	uc001rsh.3	-	20	3945	c.3285T>C	c.(3283-3285)GGT>GGC	p.G1095G	ADCY6_uc001rsj.3_Silent_p.G1095G|ADCY6_uc001rsi.3_Silent_p.G1042G	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	1095	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0																		---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49224275	49224275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49224275G>A	uc001rsm.2	-	17	2531	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	814						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6																		---	---	---	---
FKBP11	51303	broad.mit.edu	37	12	49315835	49315835	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49315835C>T	uc001rsp.2	-	6	657	c.538G>A	c.(538-540)GCC>ACC	p.A180T	FKBP11_uc010sma.1_Missense_Mutation_p.A78T|FKBP11_uc001rsq.3_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	180					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420243	49420243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420243A>G	uc001rta.3	-	48	15506	c.15506T>C	c.(15505-15507)ATT>ACT	p.I5169T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5169					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49420661	49420661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420661G>A	uc001rta.3	-	48	15088	c.15088C>T	c.(15088-15090)CGT>TGT	p.R5030C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5030					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
DHH	50846	broad.mit.edu	37	12	49488108	49488108	+	Missense_Mutation	SNP	G	A	A	rs142269288	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49488108G>A	uc001rtf.2	-	1	495	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	63					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
TUBA1B	10376	broad.mit.edu	37	12	49523058	49523058	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49523058G>T	uc001rtm.2	-	3	563	c.342C>A	c.(340-342)ATC>ATA	p.I114I	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.I79I|TUBA1B_uc001rtl.2_Silent_p.I79I|TUBA1B_uc001rtn.2_Intron	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	114					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0																		---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49579012	49579012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49579012G>A	uc009zlf.2	-	4	1409	c.1137C>T	c.(1135-1137)AGC>AGT	p.S379S	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Silent_p.S379S|TUBA1A_uc001rtq.2_Silent_p.S226S|TUBA1A_uc001rtr.2_Silent_p.S226S|TUBA1A_uc009zlg.2_Silent_p.S226S	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	379					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0																		---	---	---	---
C1QL4	338761	broad.mit.edu	37	12	49726989	49726989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49726989C>T	uc001rtz.1	-	2	1276	c.565G>A	c.(565-567)GCG>ACG	p.A189T		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	189	C1q.					collagen					0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937785	49937785	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49937785C>T	uc001ruh.1	+	6	1171	c.911C>T	c.(910-912)ACC>ATC	p.T304I	KCNH3_uc010smj.1_Missense_Mutation_p.T244I	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	304	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49944111	49944111	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49944111A>G	uc001ruh.1	+	10	2177	c.1917A>G	c.(1915-1917)CTA>CTG	p.L639L	KCNH3_uc010smj.1_Silent_p.L579L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	639	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49953259	49953259	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49953259G>A	uc001ruk.1	-	12	1254	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	MCRS1_uc001rui.1_Missense_Mutation_p.R368W|MCRS1_uc001ruj.1_Missense_Mutation_p.R342W|MCRS1_uc001rul.1_Missense_Mutation_p.R355W|MCRS1_uc009zlj.1_Missense_Mutation_p.R164W|MCRS1_uc001rum.1_Missense_Mutation_p.R342W	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	355					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49958615	49958615	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49958615G>A	uc001ruk.1	-	5	543	c.352C>T	c.(352-354)CGT>TGT	p.R118C	MCRS1_uc001rui.1_Missense_Mutation_p.R131C|MCRS1_uc001ruj.1_Missense_Mutation_p.R105C|MCRS1_uc001rul.1_Missense_Mutation_p.R118C|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Missense_Mutation_p.R105C|MCRS1_uc001run.1_Missense_Mutation_p.R118C	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	118	Nuclear localization signal (Potential).				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50040738	50040738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50040738G>A	uc001ruv.1	-	25	3160	c.2926C>T	c.(2926-2928)CGG>TGG	p.R976W	FMNL3_uc001ruw.1_Missense_Mutation_p.R925W|FMNL3_uc001rut.1_Missense_Mutation_p.R542W|FMNL3_uc001ruu.1_Missense_Mutation_p.R826W	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	976					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50044495	50044495	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50044495C>T	uc001ruv.1	-	17	2198	c.1964G>A	c.(1963-1965)GGC>GAC	p.G655D	FMNL3_uc001ruw.1_Missense_Mutation_p.G604D|FMNL3_uc001rut.1_Missense_Mutation_p.G221D|FMNL3_uc001ruu.1_Missense_Mutation_p.G505D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	655	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4																		---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50190678	50190678	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50190678G>C	uc009zlk.2	-	8	1167	c.965C>G	c.(964-966)GCC>GGC	p.A322G	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	318	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
FAIM2	23017	broad.mit.edu	37	12	50291301	50291301	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50291301C>T	uc001rvj.1	-	4	525	c.380_splice	c.e4+1	p.C127_splice	FAIM2_uc001rvi.1_Splice_Site_p.C81_splice|FAIM2_uc001rvk.1_Splice_Site	NM_012306	NP_036438			Fas apoptotic inhibitory molecule 2						anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50399142	50399142	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50399142T>C	uc001rvt.2	-	6	632	c.322A>G	c.(322-324)ATG>GTG	p.M108V	RACGAP1_uc009zlm.1_Missense_Mutation_p.M108V|RACGAP1_uc001rvs.2_Missense_Mutation_p.M108V|RACGAP1_uc001rvu.2_Missense_Mutation_p.M108V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	108	Potential.|Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1																		---	---	---	---
ACCN2	41	broad.mit.edu	37	12	50475044	50475044	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50475044T>C	uc001rvw.2	+	11	1608	c.1379T>C	c.(1378-1380)GTC>GCC	p.V460A	ACCN2_uc001rvv.2_Missense_Mutation_p.V506A|ACCN2_uc009zln.2_Missense_Mutation_p.V251A|ACCN2_uc009zlo.2_Missense_Mutation_p.V460A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	460	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)													---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51086792	51086792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51086792T>C	uc001rwv.2	+	14	1871	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	DIP2B_uc009zlt.2_Missense_Mutation_p.F2S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	572						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6																		---	---	---	---
METTL7A	25840	broad.mit.edu	37	12	51319022	51319022	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51319022C>T	uc001rxb.2	+	1	489	c.201C>T	c.(199-201)GGC>GGT	p.G67G	METTL7A_uc010smv.1_Silent_p.G67G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	67						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0																		---	---	---	---
LETMD1	25875	broad.mit.edu	37	12	51451915	51451915	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51451915A>G	uc001rxm.2	+						LETMD1_uc001rxl.2_Intron|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Intron|LETMD1_uc001rxn.2_Intron|LETMD1_uc001rxo.2_Intron|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231			LETM1 domain containing 1 isoform 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2																		---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52078069	52078069	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52078069A>T	uc001ryw.2	+	3	566	c.388A>T	c.(388-390)ATA>TTA	p.I130L	SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	130	Helical; Name=S1 of repeat I; (Potential).|I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)													---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52308233	52308233	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52308233C>T	uc001rzj.2	+	6	919	c.636C>T	c.(634-636)CGC>CGT	p.R212R	ACVRL1_uc001rzk.2_Silent_p.R212R|ACVRL1_uc010snm.1_Silent_p.R38R	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	212	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)									Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
GRASP	160622	broad.mit.edu	37	12	52407946	52407946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52407946T>C	uc001rzo.1	+	7	699	c.643T>C	c.(643-645)TAC>CAC	p.Y215H	GRASP_uc001rzp.1_Missense_Mutation_p.Y72H	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	215	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52449951	52449951	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52449951G>A	uc001rzs.2	+						NR4A1_uc010sno.1_Intron|NR4A1_uc001rzt.2_Intron|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126			nuclear receptor subfamily 4, group A, member 1						nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841348	52841348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52841348G>A	uc001sak.2	-	8	1482	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	478	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865209	52865209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865209T>C	uc001sal.3	-	4	956	c.908A>G	c.(907-909)GAT>GGT	p.D303G		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	303	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865984	52865984	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52865984C>T	uc001sal.3	-	2	669	c.621G>A	c.(619-621)AGG>AGA	p.R207R		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	207	Rod.|Linker 1.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52884922	52884922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52884922C>T	uc001sam.2	-	3	999	c.790G>A	c.(790-792)GAG>AAG	p.E264K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	264	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911395	52911395	+	Silent	SNP	G	A	A	rs149467228	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52911395G>A	uc001san.2	-	5	1234	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	KRT5_uc009zmh.2_Silent_p.A357A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	357	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53040608	53040608	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53040608T>C	uc001sat.2	-	7	1418	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	462	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)														---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53086570	53086570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53086570A>C	uc001saw.2	-	6	1204	c.1175T>G	c.(1174-1176)CTG>CGG	p.L392R	KRT77_uc009zmi.2_Missense_Mutation_p.L150R	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	392	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1																		---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53165877	53165877	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53165877C>T	uc001sax.2	-	5	1191	c.1137_splice	c.e5+1	p.K379_splice		NM_015848	NP_056932			keratin 76						cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2																		---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227765	53227765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53227765C>T	uc001sbb.2	-	1	313	c.280G>A	c.(280-282)GCA>ACA	p.A94T		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	94	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647656	53647656	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53647656C>T	uc001sci.1	+	2	1228	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	MFSD5_uc001sch.1_Missense_Mutation_p.A453V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	346	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53703514	53703514	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53703514G>T	uc001scr.3	-						AAAS_uc001scs.3_Intron	NM_015665	NP_056480			achalasia, adrenocortical insufficiency,						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1																		---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879982	53879982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53879982C>T	uc001sdm.1	-	5	678	c.580G>A	c.(580-582)GCC>ACC	p.A194T	MAP3K12_uc001sdn.1_Missense_Mutation_p.A227T	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	194	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899798	53899798	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899798T>C	uc001sdo.2	+	9	1455	c.967T>C	c.(967-969)TGC>CGC	p.C323R	TARBP2_uc001sdp.2_Missense_Mutation_p.C302R|TARBP2_uc001sdq.2_Missense_Mutation_p.C179R|TARBP2_uc001sdr.2_Missense_Mutation_p.C179R|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Missense_Mutation_p.C302R|TARBP2_uc001sdu.2_Missense_Mutation_p.C179R|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	323	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
TARBP2	6895	broad.mit.edu	37	12	53899914	53899914	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899914C>T	uc001sdo.2	+	9	1571	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	TARBP2_uc001sdp.2_Silent_p.I340I|TARBP2_uc001sdq.2_Silent_p.I217I|TARBP2_uc001sdr.2_Silent_p.I217I|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.I340I|TARBP2_uc001sdu.2_Silent_p.I217I|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	361	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53901178	53901178	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53901178C>A	uc001sdw.1	-	1	245	c.81G>T	c.(79-81)CAG>CAT	p.Q27H		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	27					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0																		---	---	---	---
ATP5G2	517	broad.mit.edu	37	12	54063713	54063713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54063713A>G	uc009znc.2	-	4	760	c.59T>C	c.(58-60)CTG>CCG	p.L20P	ATP5G2_uc001sec.2_Missense_Mutation_p.L77P|ATP5G2_uc001sed.2_Missense_Mutation_p.L36P	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	20					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1																		---	---	---	---
HOXC12	3228	broad.mit.edu	37	12	54348796	54348796	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54348796A>G	uc010soq.1	+	1	83	c.83A>G	c.(82-84)AAC>AGC	p.N28S		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	28					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54797044	54797044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54797044G>A	uc001sga.2	-	18	1909	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	614	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																		---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54922129	54922129	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54922129A>T	uc001sgc.3	+	22	2553	c.2474A>T	c.(2473-2475)AAC>ATC	p.N825I	NCKAP1L_uc010sox.1_Missense_Mutation_p.N367I|NCKAP1L_uc010soy.1_Missense_Mutation_p.N775I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	825					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54968964	54968964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54968964C>T	uc001sgd.1	+	11	1313	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	PDE1B_uc010soz.1_Missense_Mutation_p.R246C|PDE1B_uc010spa.1_Missense_Mutation_p.R342C|PDE1B_uc001sgf.2_Missense_Mutation_p.R246C|PDE1B_uc001sge.2_Missense_Mutation_p.R363C|PDE1B_uc009znq.2_Missense_Mutation_p.R179C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	383	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
PPP1R1A	5502	broad.mit.edu	37	12	54974788	54974788	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54974788T>C	uc001sgg.2	-	6	621	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	150	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641092	55641092	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641092A>G	uc010spg.1	+	1	21	c.21A>G	c.(19-21)GTA>GTG	p.V7V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641717	55641717	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55641717T>C	uc010spg.1	+	1	646	c.646T>C	c.(646-648)TAC>CAC	p.Y216H		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55714599	55714599	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55714599A>C	uc010spi.1	+	1	216	c.216A>C	c.(214-216)ACA>ACC	p.T72T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715169	55715169	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715169A>G	uc010spi.1	+	1	786	c.786A>G	c.(784-786)GCA>GCG	p.A262A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715233	55715233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55715233A>G	uc010spi.1	+	1	850	c.850A>G	c.(850-852)AAC>GAC	p.N284D		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56091226	56091226	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56091226C>T	uc001shh.2	-						ITGA7_uc001shg.2_Intron|ITGA7_uc010sps.1_Intron|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Intron	NM_001144996	NP_001138468			integrin alpha 7 isoform 1 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
BLOC1S1	2647	broad.mit.edu	37	12	56112932	56112932	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56112932G>T	uc009zny.1	+	3	292	c.276G>T	c.(274-276)CAG>CAT	p.Q92H	BLOC1S1_uc001shi.2_Missense_Mutation_p.Q64H|BLOC1S1_uc001shj.3_Missense_Mutation_p.Q92H|RDH5_uc010spt.1_5'Flank|RDH5_uc010spu.1_5'Flank|RDH5_uc001shk.2_5'Flank|RDH5_uc001shl.2_5'Flank			P78537	BL1S1_HUMAN	RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;	92					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding				0																		---	---	---	---
RDH5	5959	broad.mit.edu	37	12	56115638	56115638	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56115638T>A	uc001shk.2	+	3	659	c.476T>A	c.(475-477)ATC>AAC	p.I159N	BLOC1S1_uc001shj.3_3'UTR|RDH5_uc010spt.1_Missense_Mutation_p.I159N|RDH5_uc010spu.1_Missense_Mutation_p.I62N|RDH5_uc001shl.2_Missense_Mutation_p.I159N	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	159					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384499	56384499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56384499G>A	uc001siv.2	+	4	466	c.349G>A	c.(349-351)GAA>AAA	p.E117K	RAB5B_uc001siw.2_Missense_Mutation_p.E117K|RAB5B_uc009zog.2_Missense_Mutation_p.E57K|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56478899	56478899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56478899G>A	uc001sjh.2	+	3	548	c.355G>A	c.(355-357)GTC>ATC	p.V119I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V60I|ERBB3_uc001sjg.2_Missense_Mutation_p.V119I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	119	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56493660	56493660	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56493660C>A	uc001sjh.2	+	25	3169	c.2976C>A	c.(2974-2976)CCC>CCA	p.P992P	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Silent_p.P349P|ERBB3_uc010sqc.1_Silent_p.P933P|ERBB3_uc009zok.2_Silent_p.P257P|ERBB3_uc001sjk.2_Silent_p.P233P|ERBB3_uc001sjl.2_Silent_p.P112P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	992	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56526307	56526307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56526307C>T	uc001sjq.2	+	9	1137	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	ESYT1_uc001sjr.2_Missense_Mutation_p.R363C	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	363	C2 1.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56530569	56530569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56530569G>A	uc001sjq.2	+	16	1724	c.1674G>A	c.(1672-1674)ACG>ACA	p.T558T	ESYT1_uc001sjr.2_Silent_p.T568T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	558	C2 2.					integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531271	56531271	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56531271T>C	uc001sjq.2	+						ESYT1_uc001sjr.2_Intron	NM_015292	NP_056107			extended synaptotagmin-like protein 1							integral to membrane				ovary(4)|skin(1)	5																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56625260	56625260	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56625260G>T	uc010sqj.1	+	4	459	c.202G>T	c.(202-204)GGC>TGC	p.G68C	SLC39A5_uc010sqi.1_Translation_Start_Site|SLC39A5_uc010sqk.1_Missense_Mutation_p.G68C	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	68	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56630717	56630717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56630717G>A	uc010sqj.1	+	11	1467	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	SLC39A5_uc010sqk.1_Missense_Mutation_p.A404T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	404	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56719213	56719213	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56719213T>C	uc001skx.2	-	9	1758	c.1385A>G	c.(1384-1386)GAC>GGC	p.D462G	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D462G|PAN2_uc001sky.2_Missense_Mutation_p.D462G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	462					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811707	56811707	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56811707A>G	uc001slf.2	-	28	3708	c.3540T>C	c.(3538-3540)GAT>GAC	p.D1180D		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1180					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56822332	56822332	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56822332C>T	uc001slf.2	-	12	1576	c.1408_splice	c.e12+1	p.N470_splice	TIMELESS_uc001slg.2_Splice_Site_p.N469_splice	NM_003920	NP_003911			timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8																		---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396732	57396732	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57396732C>A	uc001sml.1	-	2	2056	c.1970G>T	c.(1969-1971)GGG>GTG	p.G657V	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1																		---	---	---	---
TMEM194A	23306	broad.mit.edu	37	12	57466637	57466637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57466637G>A	uc001smy.2	-	2	232	c.186C>T	c.(184-186)GCC>GCT	p.A62A	TMEM194A_uc001smx.2_Silent_p.A62A|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	62						integral to membrane					0																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57550055	57550055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57550055G>A	uc001snd.2	+	9	1872	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	469	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57553773	57553773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57553773T>C	uc001snd.2	+	12	2430	c.1964T>C	c.(1963-1965)GTG>GCG	p.V655A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	655	LDL-receptor class B 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57561277	57561277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57561277T>C	uc001snd.2	+	19	3431	c.2965T>C	c.(2965-2967)TGT>CGT	p.C989R	LRP1_uc009zph.1_RNA|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	989	Extracellular (Potential).|LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573210	57573210	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57573210G>A	uc001snd.2	+	29	5303	c.4837G>A	c.(4837-4839)GAC>AAC	p.D1613N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1613	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638744	57638744	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638744G>A	uc001snp.2	-	8	870	c.675C>T	c.(673-675)AAC>AAT	p.N225N	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.N186N|STAC3_uc010srm.1_Silent_p.N39N	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	225					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638988	57638988	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57638988C>A	uc001snp.2	-	7	805	c.610G>T	c.(610-612)GCA>TCA	p.A204S	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.A165S|STAC3_uc010srm.1_Missense_Mutation_p.A18S	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	204					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57865375	57865375	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57865375G>A	uc001snx.2	+	12	2930	c.2852G>A	c.(2851-2853)GGC>GAC	p.G951D	GLI1_uc009zpq.2_Missense_Mutation_p.G823D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	951					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---
MARS	4141	broad.mit.edu	37	12	57908808	57908808	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57908808C>T	uc001sog.2	+	17	2194	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.P490L|MARS_uc001soh.1_Missense_Mutation_p.P119L	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	724					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)													---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57963431	57963431	+	Missense_Mutation	SNP	C	T	T	rs121434444		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994595	57994595	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57994595T>C	uc001sou.2	+	8	946	c.815T>C	c.(814-816)TTT>TCT	p.F272S	PIP4K2C_uc001sot.2_Missense_Mutation_p.F272S|PIP4K2C_uc010srs.1_Missense_Mutation_p.F254S|PIP4K2C_uc010srt.1_Missense_Mutation_p.F224S	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)																	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58109590	58109590	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58109590C>T	uc001spj.2	+	6	686	c.627C>T	c.(625-627)CGC>CGT	p.R209R	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.R209R|OS9_uc001spl.2_Silent_p.R209R|OS9_uc001spm.2_Silent_p.R209R|OS9_uc001spn.2_Silent_p.R209R|OS9_uc010sry.1_Silent_p.R176R|OS9_uc010srz.1_Silent_p.R150R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	209					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
FAM119B	25895	broad.mit.edu	37	12	58174222	58174222	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58174222C>A	uc001sqg.2	+	3	599	c.474C>A	c.(472-474)ACC>ACA	p.T158T	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	158	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
XRCC6BP1	91419	broad.mit.edu	37	12	58335598	58335598	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58335598G>A	uc001sqp.2	+	1	154	c.114G>A	c.(112-114)CAG>CAA	p.Q38Q		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	38					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1																		---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59282123	59282123	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59282123T>G	uc001sqr.2	-	7	1181	c.935A>C	c.(934-936)AAG>ACG	p.K312T	LRIG3_uc009zqh.2_Missense_Mutation_p.K252T|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	312	LRR 11.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)															---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62148809	62148809	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62148809C>T	uc001sqw.2	-						FAM19A2_uc001sqv.2_Intron|FAM19A2_uc001sqx.2_Intron|FAM19A2_uc001sqy.2_Intron	NM_178539	NP_848634			family with sequence similarity 19 (chemokine							cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)														---	---	---	---
MON2	23041	broad.mit.edu	37	12	62949898	62949898	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62949898C>T	uc001sre.2	+	25	3726	c.3335C>T	c.(3334-3336)GCT>GTT	p.A1112V	MON2_uc009zqj.2_Missense_Mutation_p.A1112V|MON2_uc010ssl.1_Missense_Mutation_p.A1040V|MON2_uc010ssm.1_Missense_Mutation_p.A1089V|MON2_uc010ssn.1_Missense_Mutation_p.A1112V|MON2_uc001srf.2_Missense_Mutation_p.A875V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1113					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64536071	64536071	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64536071A>T	uc010ssp.1	+						SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813			SLIT-ROBO Rho GTPase activating protein 1						axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)														---	---	---	---
C12orf56	115749	broad.mit.edu	37	12	64746772	64746772	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64746772A>G	uc001ssa.3	-	2	317	c.317T>C	c.(316-318)ATC>ACC	p.I106T	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	106											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)														---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64878159	64878159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64878159C>T	uc001ssc.1	+	9	1131	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)														---	---	---	---
GNS	2799	broad.mit.edu	37	12	65110533	65110533	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65110533T>G	uc001ssg.3	-	14	1817	c.1647A>C	c.(1645-1647)AAA>AAC	p.K549N	GNS_uc001ssf.2_Missense_Mutation_p.K493N|GNS_uc010ssq.1_Missense_Mutation_p.K581N|GNS_uc010ssr.1_Missense_Mutation_p.K529N	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	549						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)														---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69202995	69202995	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69202995T>C	uc001sui.2	+	2	309	c.22T>C	c.(22-24)TGC>CGC	p.C8R	MDM2_uc009zri.2_Missense_Mutation_p.C8R|MDM2_uc009zqx.2_Missense_Mutation_p.C8R|MDM2_uc009zqw.2_Missense_Mutation_p.C8R|MDM2_uc001suk.2_Missense_Mutation_p.C8R|MDM2_uc009zqy.1_5'UTR|MDM2_uc001sun.3_5'UTR|MDM2_uc009zqz.2_Missense_Mutation_p.C2R|MDM2_uc009zra.2_Missense_Mutation_p.C2R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_5'UTR|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_5'UTR|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_5'UTR|MDM2_uc009zrg.2_5'UTR|MDM2_uc009zrh.2_5'UTR	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	2	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)					A		sarcoma|glioma|colorectal|other								---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69652831	69652831	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69652831C>T	uc001sut.3	+	6	1266	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	CPSF6_uc001suu.3_Nonsense_Mutation_p.R423*|CPSF6_uc010stk.1_Nonsense_Mutation_p.R17*	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	386	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)															---	---	---	---
LYZ	4069	broad.mit.edu	37	12	69742245	69742245	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69742245G>T	uc001suw.2	+	1	112	c.57G>T	c.(55-57)AAG>AAT	p.K19N		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	19					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)															---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968696	69968696	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69968696T>C	uc001suy.2	+	10	1998	c.1488T>C	c.(1486-1488)TCT>TCC	p.S496S	FRS2_uc001suz.2_Silent_p.S496S|FRS2_uc009zrj.2_Silent_p.S496S|FRS2_uc009zrk.2_Silent_p.S496S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70149411	70149411	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70149411T>C	uc001svp.2	+	2	718	c.271T>C	c.(271-273)TTA>CTA	p.L91L	RAB3IP_uc001svl.1_Silent_p.L75L|RAB3IP_uc001svm.2_Silent_p.L75L|RAB3IP_uc001svn.2_Silent_p.L75L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L91L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	91					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71050594	71050594	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71050594T>A	uc001swi.1	-	13	2186	c.1770A>T	c.(1768-1770)GCA>GCT	p.A590A	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Silent_p.A345A|PTPRR_uc009zrs.2_Silent_p.A439A|PTPRR_uc010stq.1_Silent_p.A478A	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	590	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).|Substrate binding (By similarity).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)														---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72024378	72024378	+	Splice_Site	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72024378A>C	uc001swo.2	-	18	4083	c.3724_splice	c.e18+1	p.E1242_splice		NM_144982	NP_659419			proline/serine-rich coiled-coil 2						RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72265950	72265950	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72265950T>C	uc001swu.2	+	2	204	c.195_splice	c.e2+2	p.K65_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc010stt.1_Splice_Site_p.K51_splice|TBC1D15_uc001swv.2_Splice_Site_p.K65_splice|TBC1D15_uc001sww.2_Splice_Site	NM_022771	NP_073608			TBC1 domain family, member 15 isoform 1								protein binding|Rab GTPase activator activity				0																		---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72316783	72316783	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72316783T>C	uc001swu.2	+	18	1950	c.1941T>C	c.(1939-1941)TGT>TGC	p.C647C	TBC1D15_uc010stt.1_Silent_p.C616C|TBC1D15_uc001swv.2_Silent_p.C630C|TBC1D15_uc001sww.2_Silent_p.C379C	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	625							protein binding|Rab GTPase activator activity				0																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667178	72667178	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72667178G>T	uc001sxa.2	+	1	650	c.620G>T	c.(619-621)GGT>GTT	p.G207V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	207	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76772266	76772266	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76772266A>T	uc001sye.1	-	16	2175	c.1695T>A	c.(1693-1695)GAT>GAA	p.D565E	OSBPL8_uc001syf.1_Missense_Mutation_p.D523E|OSBPL8_uc001syg.1_Missense_Mutation_p.D523E|OSBPL8_uc001syh.1_Missense_Mutation_p.D540E	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	565					lipid transport		lipid binding			ovary(1)	1																		---	---	---	---
CSRP2	1466	broad.mit.edu	37	12	77259935	77259935	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77259935G>C	uc001syl.1	-	2	189	c.106C>G	c.(106-108)CTC>GTC	p.L36V		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449736	77449736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449736G>T	uc001sym.3	-	3	504	c.268C>A	c.(268-270)CTC>ATC	p.L90I	E2F7_uc001syn.2_Missense_Mutation_p.L90I	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	90					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449893	77449893	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77449893A>T	uc001sym.3	-	3	347	c.111T>A	c.(109-111)GAT>GAA	p.D37E	E2F7_uc001syn.2_Missense_Mutation_p.D37E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	37					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400965	78400965	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400965A>G	uc001syp.2	+	8	1820	c.1647A>G	c.(1645-1647)AAA>AAG	p.K549K	NAV3_uc001syo.2_Silent_p.K549K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78516145G>A	uc001syp.2	+	16	4348	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78570943	78570943	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78570943C>T	uc001syp.2	+	27	5320	c.5147C>T	c.(5146-5148)GCC>GTC	p.A1716V	NAV3_uc001syo.2_Missense_Mutation_p.A1716V|NAV3_uc010sub.1_Missense_Mutation_p.A1195V|NAV3_uc009zsf.2_Missense_Mutation_p.A547V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1716						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
MIR1252	100302136	broad.mit.edu	37	12	79813047	79813047	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:79813047A>G	hsa-mir-1252|MI0006434	+			c.11A>G			SYT1_uc001sys.2_Intron|SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron																	0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80750253	80750253	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80750253T>C	uc009zsg.1	+						uc001szd.2_5'Flank					RecName: Full=Uncharacterized protein C12orf64;																														---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81537029	81537029	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81537029A>G	uc001szl.1	+						ACSS3_uc001szm.1_Intron	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81833805	81833805	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81833805A>G	uc001szo.1	-	7	752	c.591T>C	c.(589-591)GTT>GTC	p.V197V	PPFIA2_uc010sue.1_Silent_p.V97V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	123										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83251004	83251004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83251004G>A	uc001szt.2	+	2	731	c.299G>A	c.(298-300)GGT>GAT	p.G100D	TMTC2_uc001szr.1_Missense_Mutation_p.G100D|TMTC2_uc001szs.1_Missense_Mutation_p.G100D|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	100	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83379836	83379836	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83379836G>A	uc001szt.2	+						TMTC2_uc001szs.1_Missense_Mutation_p.R694H|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801			transmembrane and tetratricopeptide repeat							endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83526060	83526060	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83526060C>T	uc001szt.2	+	12	2835	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	TMTC2_uc010suk.1_Silent_p.N556N	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	801	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85449486	85449486	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85449486A>G	uc001tac.2	+	8	1026	c.915A>G	c.(913-915)CCA>CCG	p.P305P	LRRIQ1_uc001tab.1_Silent_p.P305P|LRRIQ1_uc001taa.1_Silent_p.P280P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	305	IQ 1.|Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85517836	85517836	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85517836T>C	uc001tac.2	+						LRRIQ1_uc001tab.1_Intron	NM_001079910	NP_001073379			leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88454773	88454773	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88454773T>C	uc001tar.2	-	47	6702	c.6358_splice	c.e47-1	p.S2120_splice	CEP290_uc001taq.2_Splice_Site_p.S1180_splice	NM_025114	NP_079390			centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88584371	88584371	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88584371C>T	uc001tau.2	+	12	1898	c.1678C>T	c.(1678-1680)CCC>TCC	p.P560S		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	560	TPR 4.					integral to membrane	binding			skin(1)	1																		---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917932	89917932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89917932C>A	uc001tbd.2	-	1	604	c.395G>T	c.(394-396)AGG>ATG	p.R132M	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.R129M|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	132	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0																OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	89997947	89997947	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89997947G>A	uc001tbh.2	-	15	2800	c.2619C>T	c.(2617-2619)GGC>GGT	p.G873G	ATP2B1_uc001tbg.2_Silent_p.G873G|ATP2B1_uc001tbf.2_Silent_p.G543G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	873	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DCN	1634	broad.mit.edu	37	12	91539849	91539849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91539849C>T	uc001tbs.2	-	7	1160	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	DCN_uc001tbo.2_Missense_Mutation_p.G247R|DCN_uc001tbp.2_Missense_Mutation_p.G209R|DCN_uc001tbq.2_Missense_Mutation_p.G169R|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.G356R|DCN_uc001tbu.2_Missense_Mutation_p.G356R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	356	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4																		---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975728	94975728	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94975728T>C	uc001tdj.2	-	2	783	c.665A>G	c.(664-666)CAC>CGC	p.H222R	TMCC3_uc001tdi.2_Missense_Mutation_p.H191R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	222						integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95656842	95656842	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95656842C>T	uc001tdz.2	+	4	524	c.419C>T	c.(418-420)GCA>GTA	p.A140V	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.A92V|VEZT_uc001tdt.2_Missense_Mutation_p.A92V|VEZT_uc009zsz.1_Missense_Mutation_p.A140V|VEZT_uc001tdv.2_Missense_Mutation_p.A109V|VEZT_uc001tdw.1_Missense_Mutation_p.A92V|VEZT_uc009zta.1_Missense_Mutation_p.A92V	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	140	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95668625	95668625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95668625C>T	uc001tdz.2	+	7	1061	c.956C>T	c.(955-957)GCA>GTA	p.A319V	VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	319						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96288811	96288811	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96288811G>A	uc001tek.1	-	8	962	c.728C>T	c.(727-729)GCA>GTA	p.A243V		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	243										skin(1)	1																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98927983	98927983	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98927983C>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Missense_Mutation_p.R650C	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98928112	98928112	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98928112A>T	uc001tfj.2	+						TMPO_uc001tfi.1_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron|TMPO_uc001tfh.1_Nonsense_Mutation_p.K693*	NM_001032283	NP_001027454			thymopoietin isoform beta							integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
GOLGA2B	55592	broad.mit.edu	37	12	100551023	100551023	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100551023C>T	uc001tgs.2	-	5	746	c.302G>A	c.(301-303)CGC>CAC	p.R101H	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101H|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0																		---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100729611	100729611	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100729611A>G	uc001thn.2	+	16	2002	c.1952A>G	c.(1951-1953)AAC>AGC	p.N651S	SCYL2_uc001thm.1_Missense_Mutation_p.N651S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	651					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100813785	100813785	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100813785G>A	uc010svi.1	+	12	1931	c.1618G>A	c.(1618-1620)GCG>ACG	p.A540T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A490T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	540	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	100995406	100995406	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100995406A>T	uc001thu.2	+						GAS2L3_uc009zty.2_Intron|GAS2L3_uc001thv.2_Intron	NM_174942	NP_777602			growth arrest-specific 2 like 3						cell cycle arrest					skin(1)	1																		---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101336299	101336299	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101336299C>A	uc010svm.1	+	5	1014	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.Q113K|ANO4_uc001thx.2_Missense_Mutation_p.Q148K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	148	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603516	101603516	+	Silent	SNP	G	A	A	rs141426258	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101603516G>A	uc001thz.3	-	1	501	c.111C>T	c.(109-111)GGC>GGT	p.G37G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	37	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101693535	101693535	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101693535T>A	uc001tia.1	+	13	1662	c.1506T>A	c.(1504-1506)TCT>TCA	p.S502S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	502					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101713323	101713323	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101713323G>T	uc001tia.1	+	23	2895	c.2739G>T	c.(2737-2739)AAG>AAT	p.K913N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	913					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101773254	101773254	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101773254A>G	uc001tia.1	+	57	7658	c.7502A>G	c.(7501-7503)CAA>CGA	p.Q2501R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2501					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108316	102108316	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108316C>A	uc001tin.2	+	3	679	c.456C>A	c.(454-456)CGC>CGA	p.R152R	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.R152R	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	152					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108321	102108321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102108321G>A	uc001tin.2	+	3	684	c.461G>A	c.(460-462)GGA>GAA	p.G154E	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G154E	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	154	Helical; (Potential).				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102151087	102151087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102151087A>C	uc001tit.2	-	18	3516	c.3337T>G	c.(3337-3339)TTT>GTT	p.F1113V		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1113					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
CCDC53	51019	broad.mit.edu	37	12	102439888	102439888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102439888C>T	uc010svw.1	-	3	319	c.160G>A	c.(160-162)GAC>AAC	p.D54N	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.D54N	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	54	Potential.					WASH complex	protein binding				0																		---	---	---	---
C12orf48	55010	broad.mit.edu	37	12	102558392	102558392	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102558392G>A	uc001tjf.2	+						C12orf48_uc001tje.2_Nonsense_Mutation_p.W143*|C12orf48_uc001tjg.2_Intron|C12orf48_uc010swa.1_Intron|C12orf48_uc001tjh.2_Intron|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Intron|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385			hypothetical protein LOC55010						response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104179252	104179252	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104179252T>A	uc010swe.1	-	12	1231	c.1190A>T	c.(1189-1191)GAT>GTT	p.D397V		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	397							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TDG	6996	broad.mit.edu	37	12	104373771	104373771	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104373771G>A	uc001tkg.2	+	3	552	c.329G>A	c.(328-330)CGT>CAT	p.R110H	TDG_uc010swh.1_Missense_Mutation_p.R110H|TDG_uc009zuk.2_Missense_Mutation_p.R106H|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	110					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)									BER_DNA_glycosylases					---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104682799	104682799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104682799G>A	uc010swk.1	+	4	417	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.G34D|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_5'UTR|TXNRD1_uc010swq.1_Missense_Mutation_p.G32D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_5'Flank	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	132	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0																		---	---	---	---
EID3	493861	broad.mit.edu	37	12	104697736	104697736	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104697736G>T	uc001tkw.2	+	1	188	c.24G>T	c.(22-24)AGG>AGT	p.R8S	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0																		---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105151226	105151226	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105151226T>A	uc001tkx.1	+	4	995	c.704T>A	c.(703-705)GTC>GAC	p.V235D	CHST11_uc001tky.2_Missense_Mutation_p.V230D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	235	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0																		---	---	---	---
SLC41A2	84102	broad.mit.edu	37	12	105199107	105199107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105199107G>A	uc001tla.2	-	10	1712	c.1545C>T	c.(1543-1545)ACC>ACT	p.T515T		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	515	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632882	106632882	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632882C>T	uc001tlk.2	-	2	1813	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	577	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106632988	106632988	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106632988G>T	uc001tlk.2	-	2	1707	c.1623C>A	c.(1621-1623)GCC>GCA	p.A541A		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	541	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106633214	106633214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106633214T>A	uc001tlk.2	-	2	1481	c.1397A>T	c.(1396-1398)GAT>GTT	p.D466V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	466						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0																		---	---	---	---
TCP11L2	255394	broad.mit.edu	37	12	106729566	106729566	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106729566C>G	uc001tln.2	+	7	1096	c.922C>G	c.(922-924)CTG>GTG	p.L308V		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	308										ovary(3)	3																		---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106821127	106821127	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106821127T>C	uc001tlp.2	+	13	1476	c.1254T>C	c.(1252-1254)GCT>GCC	p.A418A	POLR3B_uc001tlq.2_Silent_p.A360A	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	418					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107103144	107103144	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107103144G>T	uc001tlr.2	+	9	936	c.870G>T	c.(868-870)CTG>CTT	p.L290L	RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.L299L|RFX4_uc001tlt.2_Silent_p.L299L|RFX4_uc001tlv.2_Silent_p.L196L	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	290					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107155091	107155091	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107155091C>T	uc001tlr.2	+	18	2118	c.2052C>T	c.(2050-2052)TGC>TGT	p.C684C	RFX4_uc001tlt.2_Silent_p.C693C|RFX4_uc001tlv.2_Silent_p.C590C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	684					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107415864	107415864	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107415864T>C	uc001tmi.3	-	2	1124	c.265A>G	c.(265-267)AAG>GAG	p.K89E		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	89	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3																		---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	108011113	108011113	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108011113G>A	uc001tmk.1	+	9	2652	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.G711S|BTBD11_uc001tml.1_Missense_Mutation_p.G248S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	711	ANK 3.					integral to membrane	DNA binding			skin(2)|ovary(1)	3																		---	---	---	---
PRDM4	11108	broad.mit.edu	37	12	108136132	108136132	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108136132T>C	uc001tmp.2	-						PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_Intron	NM_012406	NP_036538			PR domain containing 4						cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
FICD	11153	broad.mit.edu	37	12	108912565	108912565	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108912565A>G	uc001tmx.1	+	3	836	c.690A>G	c.(688-690)ACA>ACG	p.T230T		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	230					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0																		---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109046095	109046095	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109046095A>G	uc001tnj.2	-	8	1050	c.954T>C	c.(952-954)GGT>GGC	p.G318G	CORO1C_uc009zva.2_Silent_p.G371G|CORO1C_uc010sxf.1_Silent_p.G281G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	318					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3																		---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109182581	109182581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109182581G>A	uc001tnm.2	-	15	2420	c.2333C>T	c.(2332-2334)TCA>TTA	p.S778L	SSH1_uc001tnl.2_Missense_Mutation_p.S466L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	778					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
USP30	84749	broad.mit.edu	37	12	109519161	109519161	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109519161T>C	uc010sxi.1	+	8	847	c.743T>C	c.(742-744)TTT>TCT	p.F248S	USP30_uc001tnu.3_Missense_Mutation_p.F217S|USP30_uc001tnw.3_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	248	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1																		---	---	---	---
ACACB	32	broad.mit.edu	37	12	109625968	109625968	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109625968G>A	uc001tob.2	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_uc001toc.2_Splice_Site_p.S715_splice	NM_001093	NP_001084			acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109845668	109845668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109845668C>T	uc010sxn.1	+	9	1057	c.1057C>T	c.(1057-1059)CGA>TGA	p.R353*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0																		---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109945425	109945425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109945425G>A	uc001top.2	+	15	2110	c.1507G>A	c.(1507-1509)GGG>AGG	p.G503R	UBE3B_uc001toq.2_Missense_Mutation_p.G503R|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G503R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110427530	110427530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110456152	110456152	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110456152C>T	uc001tpx.2	+	5	662	c.403C>T	c.(403-405)CCC>TCC	p.P135S	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.P135S|ANKRD13A_uc010sxw.1_Missense_Mutation_p.P135S	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	135											0																		---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110566827	110566827	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110566827G>A	uc001tqi.2	+	4	451	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q	IFT81_uc001tqh.2_Silent_p.Q107Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.Q107Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	107					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111089064	111089064	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111089064G>A	uc001trs.1	-	6	766	c.601C>T	c.(601-603)CTG>TTG	p.L201L	HVCN1_uc001trq.1_Silent_p.L201L|HVCN1_uc001trt.1_Silent_p.L201L|HVCN1_uc010syd.1_Silent_p.L181L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	201	Helical; Name=Segment S4; (By similarity).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1																		---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111317857	111317857	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111317857G>A	uc001trv.1	+	6	832	c.637G>A	c.(637-639)GCC>ACC	p.A213T	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.A173T|CCDC63_uc001trw.1_Missense_Mutation_p.A128T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	213										skin(6)|ovary(1)|pancreas(1)	8																		---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112572809	112572809	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112572809T>G	uc001ttp.2	+						TRAFD1_uc001tto.2_Intron|TRAFD1_uc009zwb.2_Intron|TRAFD1_uc010syj.1_Intron	NM_006700	NP_006691			TRAF-type zinc finger domain containing 1						negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112707608	112707608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112707608C>T	uc009zwc.2	-	6	943	c.925G>A	c.(925-927)GAC>AAC	p.D309N	C12orf51_uc010syk.1_Missense_Mutation_p.D132N|C12orf51_uc001tts.2_Missense_Mutation_p.D132N|C12orf51_uc001ttt.3_Missense_Mutation_p.D132N	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
C12orf51	283450	broad.mit.edu	37	12	112708191	112708191	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112708191A>T	uc009zwc.2	-	5	737	c.719T>A	c.(718-720)CTC>CAC	p.L240H	C12orf51_uc010syk.1_Missense_Mutation_p.L63H|C12orf51_uc001tts.2_Missense_Mutation_p.L63H|C12orf51_uc001ttt.3_Missense_Mutation_p.L63H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112891074	112891074	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112891074T>C	uc001ttx.2	+	4	788	c.408T>C	c.(406-408)CTT>CTC	p.L136L	PTPN11_uc001ttw.1_Silent_p.L136L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	136	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392								Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307841	113307841	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113307841G>T	uc010syl.1	+	10	1155	c.793G>T	c.(793-795)GCA>TCA	p.A265S	RPH3A_uc001ttz.2_Missense_Mutation_p.A265S|RPH3A_uc001tty.2_Missense_Mutation_p.A261S|RPH3A_uc009zwe.1_Missense_Mutation_p.A261S|RPH3A_uc010sym.1_Missense_Mutation_p.A216S|RPH3A_uc001tua.2_Missense_Mutation_p.A25S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	265	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)														---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113379524	113379524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113379524G>A	uc001tug.2	+	2	414	c.327G>A	c.(325-327)TGG>TGA	p.W109*	OAS3_uc001tue.2_Nonsense_Mutation_p.W109*|OAS3_uc001tuf.2_Nonsense_Mutation_p.W109*	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	109	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113496081	113496081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113496081G>A	uc001tuk.1	+	1	420	c.84G>A	c.(82-84)TGG>TGA	p.W28*		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	28	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113603808	113603808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113603808G>A	uc001tup.2	-	13	1472	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	DDX54_uc001tuq.3_Missense_Mutation_p.R482W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	482					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
C12orf52	84934	broad.mit.edu	37	12	113629143	113629143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113629143G>A	uc001tur.1	+	4	799	c.331G>A	c.(331-333)GAT>AAT	p.D111N	C12orf52_uc009zwg.1_Missense_Mutation_p.D108N|C12orf52_uc001tus.1_Missense_Mutation_p.D111N|C12orf52_uc001tut.1_Missense_Mutation_p.D135N	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	111					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113633490	113633490	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113633490A>G	uc001tuu.2	-	3	1106	c.934T>C	c.(934-936)TAT>CAT	p.Y312H		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1																		---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113906051	113906051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113906051T>C	uc001tvj.1	-	3	1130	c.556A>G	c.(556-558)ACC>GCC	p.T186A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	186	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114364873	114364873	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114364873C>A	uc009zwi.2	-	17	2374	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	RBM19_uc001tvn.3_Nonsense_Mutation_p.E744*|RBM19_uc001tvm.2_Nonsense_Mutation_p.E744*	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	744	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114397977	114397977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114397977A>G	uc009zwi.2	-	3	370	c.226T>C	c.(226-228)TTC>CTC	p.F76L	RBM19_uc001tvn.3_Missense_Mutation_p.F76L|RBM19_uc001tvm.2_Missense_Mutation_p.F76L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	76	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114837433	114837433	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114837433T>A	uc001tvo.2	-	4	742	c.247A>T	c.(247-249)ATG>TTG	p.M83L	TBX5_uc001tvp.2_Missense_Mutation_p.M83L|TBX5_uc001tvq.2_Missense_Mutation_p.M33L|TBX5_uc010syv.1_Missense_Mutation_p.M83L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	83	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116445236	116445236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116445236C>A	uc001tvw.2	-	11	2273	c.2218G>T	c.(2218-2220)GAT>TAT	p.D740Y		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116446399	116446399	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116446399G>T	uc001tvw.2	-	10	1874	c.1819C>A	c.(1819-1821)CCT>ACT	p.P607T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	607					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
C12orf49	79794	broad.mit.edu	37	12	117160913	117160913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117160913C>T	uc001tvz.1	-	2	365	c.227G>A	c.(226-228)CGC>CAC	p.R76H	C12orf49_uc009zwm.1_Intron	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	76						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)														---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117365830	117365830	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117365830T>C	uc001twg.1	+	2	403	c.321T>C	c.(319-321)AAT>AAC	p.N107N	FBXW8_uc001twf.1_Silent_p.N41N|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	107							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117615411	117615411	+	Missense_Mutation	SNP	A	T	T	rs34443379		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117615411A>T	uc001twk.2	-	4	545	c.506T>A	c.(505-507)ATT>AAT	p.I169N	FBXO21_uc001twj.2_Missense_Mutation_p.I169N|FBXO21_uc009zwq.2_Missense_Mutation_p.I169N	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117962760	117962760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117962760C>T	uc001two.2	-	14	2084	c.2029G>A	c.(2029-2031)GCC>ACC	p.A677T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	706	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RFC5	5985	broad.mit.edu	37	12	118463644	118463644	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118463644A>G	uc001twq.2	+						RFC5_uc010syx.1_Intron|RFC5_uc010syy.1_Intron|RFC5_uc010syz.1_Intron|RFC5_uc009zwr.2_Intron	NM_007370	NP_031396			replication factor C 5 isoform 1						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118473035	118473035	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118473035T>C	uc001twr.2	-	7	1026	c.928A>G	c.(928-930)ACG>GCG	p.T310A	WSB2_uc010sza.1_Missense_Mutation_p.T85A|WSB2_uc010szb.1_Missense_Mutation_p.T100A|WSB2_uc009zws.1_Missense_Mutation_p.T310A	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	310	WD 5.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)															OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118599655	118599655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118599655G>A	uc001twx.2	-	18	2372	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	TAOK3_uc001twv.2_Nonsense_Mutation_p.R233*|TAOK3_uc001tww.2_Nonsense_Mutation_p.R523*|TAOK3_uc001twy.3_Nonsense_Mutation_p.R693*	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	693					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419782	119419782	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119419782T>A	uc001txa.1	+	1	387	c.95T>A	c.(94-96)ATT>AAT	p.I32N		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	32					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119568536	119568536	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119568536G>A	uc001txa.1	+	8	960	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	223	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119631646	119631646	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119631646G>A	uc001txb.2	+	3	1097	c.574G>A	c.(574-576)GAA>AAA	p.E192K	HSPB8_uc001txc.2_3'UTR	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	192					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119909923	119909923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119909923C>T	uc001txe.2	+	3	760	c.295C>T	c.(295-297)CCA>TCA	p.P99S	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	99										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)														---	---	---	---
CIT	11113	broad.mit.edu	37	12	120295414	120295414	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120295414A>G	uc001txi.1	-	4	380	c.327T>C	c.(325-327)GCT>GCC	p.A109A	CIT_uc001txj.1_Silent_p.A109A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	109	ATP (By similarity).|Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120591161	120591161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120591161C>T	uc001txo.2	-	33	3931	c.3918G>A	c.(3916-3918)GCG>GCA	p.A1306A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120637168	120637168	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120637168T>C	uc001txp.2	-	3	412	c.175A>G	c.(175-177)ACC>GCC	p.T59A	RPLP0_uc001txq.2_Missense_Mutation_p.T59A|RPLP0_uc001txr.2_Missense_Mutation_p.T59A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	59					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120783402	120783402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120783402A>G	uc001tye.1	-	14	1145	c.1081T>C	c.(1081-1083)TAC>CAC	p.Y361H		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
GATC	283459	broad.mit.edu	37	12	120884368	120884368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120884368A>G	uc010szi.1	+						TRIAP1_uc001tyg.2_5'Flank	NM_176818	NP_789788			glutamyl-tRNA(Gln) amidotransferase, subunit C						regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SFRS9	8683	broad.mit.edu	37	12	120907233	120907233	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120907233C>A	uc001tyi.2	-	1	326	c.180G>T	c.(178-180)GAG>GAT	p.E60D	SFRS9_uc009zwy.2_Missense_Mutation_p.E60D|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	60	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SPPL3	121665	broad.mit.edu	37	12	121206174	121206174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121660770	121660770	+	Missense_Mutation	SNP	G	A	A	rs145814749	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121660770G>A	uc001tzr.2	+	5	752	c.448G>A	c.(448-450)GTA>ATA	p.V150I	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.V166I|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.V49I	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	150	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	122016814	122016814	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122016814T>C	uc001uat.2	-	2	268	c.164A>G	c.(163-165)GAC>GGC	p.D55G	KDM2B_uc001uas.2_Missense_Mutation_p.D24G|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D55G	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	55					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
TMEM120B	144404	broad.mit.edu	37	12	122213555	122213555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122213555G>A	uc001ubc.3	+	12	1091	c.947G>A	c.(946-948)GGC>GAC	p.G316D	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	316	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)												OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHOF	54509	broad.mit.edu	37	12	122217484	122217484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122217484G>A	uc001ubb.2	-	5	611	c.556C>T	c.(556-558)CGG>TGG	p.R186W	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	186					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122625562	122625562	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122625562T>C	uc001ubq.2	+	16	2570	c.2570T>C	c.(2569-2571)CTG>CCG	p.L857P	MLXIP_uc001ubt.2_Missense_Mutation_p.L464P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	857	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)														---	---	---	---
IL31	386653	broad.mit.edu	37	12	122657248	122657248	+	Missense_Mutation	SNP	G	A	A	rs138591343	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122657248G>A	uc001ubv.2	-	3	233	c.206C>T	c.(205-207)ACG>ATG	p.T69M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	69						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)														---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720408	122720408	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122720408C>T	uc001ucd.2	-	11	1478	c.1365G>A	c.(1363-1365)CCG>CCA	p.P455P	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)														---	---	---	---
GPR81	27198	broad.mit.edu	37	12	123214131	123214131	+	Silent	SNP	G	A	A	rs146760413		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123214131G>A	uc001ucz.2	-	1	999	c.756C>T	c.(754-756)TGC>TGT	p.C252C	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	252	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123265820	123265820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123265820G>T	uc001udc.2	+	3	484	c.339G>T	c.(337-339)CAG>CAT	p.Q113H	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.Q113H|CCDC62_uc001ude.2_Missense_Mutation_p.A12S	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	113	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123285971	123285971	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123285971A>G	uc001udc.2	+	9	1423	c.1278A>G	c.(1276-1278)ACA>ACG	p.T426T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T426T|CCDC62_uc001ude.2_Silent_p.T187T	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	426						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123344632	123344632	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123344632G>A	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)												OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687931	123687931	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123687931T>G	uc001uel.2	-						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619			M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---
RILPL2	196383	broad.mit.edu	37	12	123915133	123915133	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123915133A>G	uc001uey.1	-	2	710	c.413T>C	c.(412-414)CTA>CCA	p.L138P		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	138	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124069277	124069277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124069277T>C	uc001ufg.2	+	1	202	c.94T>C	c.(94-96)TGC>CGC	p.C32R		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	32	Lumenal (Potential).|GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124071286	124071286	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124071286G>A	uc001ufg.2	+							NM_006815	NP_006806			coated vesicle membrane protein precursor						protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124137116	124137116	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124137116C>T	uc001ufo.1	+						GTF2H3_uc010tau.1_Intron	NM_001516	NP_001507			general transcription factor IIH, polypeptide 3,						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)									NER					---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124228803	124228803	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124228803C>T	uc001ufr.2	+	11	1493	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	415	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124235651	124235651	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124235651T>G	uc001ufr.2	+							NM_012463	NP_036595			ATPase, H+ transporting, lysosomal V0 subunit						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124268706	124268706	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124268706C>T	uc001uft.3	+	8	1054	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	343	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124330561	124330561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124330561T>C	uc001uft.3	+	31	5345	c.5320T>C	c.(5320-5322)TTT>CTT	p.F1774L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124393820	124393820	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124393820G>A	uc001uft.3	+	57	9499	c.9474G>A	c.(9472-9474)AAG>AAA	p.K3158K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3158	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124832728	124832728	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124832728C>T	uc010tba.1	-	29	4118	c.4001G>A	c.(4000-4002)AGC>AAC	p.S1334N	NCOR2_uc010tay.1_Missense_Mutation_p.S1333N|NCOR2_uc010taz.1_Missense_Mutation_p.S1317N|NCOR2_uc010tbb.1_Missense_Mutation_p.S1326N|NCOR2_uc010tbc.1_Missense_Mutation_p.S1316N|NCOR2_uc001ugj.1_Missense_Mutation_p.S1334N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1334					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)												OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124835152	124835152	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124835152G>T	uc010tba.1	-	28	3966	c.3849C>A	c.(3847-3849)GGC>GGA	p.G1283G	NCOR2_uc010tay.1_Silent_p.G1282G|NCOR2_uc010taz.1_Silent_p.G1266G|NCOR2_uc010tbb.1_Silent_p.G1275G|NCOR2_uc010tbc.1_Silent_p.G1265G|NCOR2_uc001ugj.1_Silent_p.G1283G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1283					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124882718	124882718	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124882718T>G	uc010tba.1	-	16	1940	c.1823A>C	c.(1822-1824)GAG>GCG	p.E608A	NCOR2_uc010tay.1_Missense_Mutation_p.E608A|NCOR2_uc010taz.1_Missense_Mutation_p.E608A|NCOR2_uc010tbb.1_Missense_Mutation_p.E608A|NCOR2_uc010tbc.1_Missense_Mutation_p.E607A|NCOR2_uc001ugj.1_Missense_Mutation_p.E608A	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	608					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124885063	124885063	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124885063C>A	uc010tba.1	-	15	1914	c.1797G>T	c.(1795-1797)CAG>CAT	p.Q599H	NCOR2_uc010tay.1_Missense_Mutation_p.Q599H|NCOR2_uc010taz.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbb.1_Missense_Mutation_p.Q599H|NCOR2_uc010tbc.1_Missense_Mutation_p.Q598H|NCOR2_uc001ugj.1_Missense_Mutation_p.Q599H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125294824	125294824	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125294824C>A	uc001ugo.3	-	6	991	c.738G>T	c.(736-738)TGG>TGT	p.W246C	SCARB1_uc001ugn.3_Missense_Mutation_p.W246C|SCARB1_uc001ugm.3_Missense_Mutation_p.W246C|SCARB1_uc010tbd.1_Missense_Mutation_p.W246C|SCARB1_uc010tbe.1_Missense_Mutation_p.W205C|SCARB1_uc001ugp.3_Missense_Mutation_p.W246C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	246	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)													---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125444895	125444895	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125444895T>C	uc001ugy.2	-	16	2219	c.2120A>G	c.(2119-2121)GAC>GGC	p.D707G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
AACS	65985	broad.mit.edu	37	12	125591759	125591759	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125591759T>C	uc001uhc.2	+	8	1066	c.860T>C	c.(859-861)ATC>ACC	p.I287T	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I287T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	287					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)														---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126004077	126004077	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:126004077T>C	uc001uhe.1	+	4	1192	c.1184T>C	c.(1183-1185)GTG>GCG	p.V395A		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	395	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)														---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130185180	130185180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130185180G>A	uc009zyl.1	-	2	471	c.143C>T	c.(142-144)CCC>CTC	p.P48L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	48	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648123	130648123	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130648123G>A	uc001uii.2	+	1	1092	c.636G>A	c.(634-636)ACG>ACA	p.T212T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	212	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130897259	130897259	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130897259T>A	uc001uil.2	-	15	2890	c.2726A>T	c.(2725-2727)AAC>ATC	p.N909I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	909	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130898739	130898739	+	Silent	SNP	C	T	T	rs143479429	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130898739C>T	uc001uil.2	-	14	2747	c.2583G>A	c.(2581-2583)CCG>CCA	p.P861P		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	861	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131569156	131569156	+	Missense_Mutation	SNP	G	A	A	rs145630930	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:131569156G>A	uc001uit.3	+	15	2178	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	GPR133_uc010tbm.1_Missense_Mutation_p.R572H|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R59H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	540	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132241057	132241057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132241057C>T	uc001uja.1	+	11	1728	c.1588C>T	c.(1588-1590)CCC>TCC	p.P530S	SFRS8_uc010tbn.1_Missense_Mutation_p.P530S|SFRS8_uc001ujb.1_Missense_Mutation_p.P323S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	530					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132249139	132249139	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132249139C>T	uc001uja.1	+	12	1999	c.1859C>T	c.(1858-1860)GCT>GTT	p.A620V	SFRS8_uc010tbn.1_Missense_Mutation_p.A620V|SFRS8_uc001ujb.1_Missense_Mutation_p.A413V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	620					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132281751	132281751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132281751C>T	uc001uja.1	+	16	2703	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	SFRS8_uc010tbn.1_Missense_Mutation_p.R907W	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	855	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132334582	132334582	+	Silent	SNP	C	T	T	rs149055160		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132334582C>T	uc001ujc.1	+	9	1539	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	MMP17_uc001ujd.1_Silent_p.D396D	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	480	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132508396	132508396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132508396C>T	uc001ujn.2	+	23	4800	c.4765C>T	c.(4765-4767)CCG>TCG	p.P1589S	EP400_uc001ujl.2_Missense_Mutation_p.P1588S|EP400_uc001ujm.2_Missense_Mutation_p.P1508S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132534928	132534928	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132534928C>T	uc001ujn.2	+	39	7296	c.7261C>T	c.(7261-7263)CAC>TAC	p.H2421Y	EP400_uc001ujl.2_Missense_Mutation_p.H2420Y|EP400_uc001ujm.2_Missense_Mutation_p.H2340Y	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2457					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133197925	133197925	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133197925T>C	uc001ukj.1	+	9	990	c.990T>C	c.(988-990)CAT>CAC	p.H330H	P2RX2_uc001uki.1_Silent_p.H330H|P2RX2_uc001ukk.1_Silent_p.H330H|P2RX2_uc001ukl.1_Silent_p.H306H|P2RX2_uc001ukm.1_Silent_p.H258H|P2RX2_uc001ukn.1_Silent_p.H238H|P2RX2_uc009zyt.1_Silent_p.H330H|P2RX2_uc001uko.1_Silent_p.H296H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	330	Pore-forming motif (Potential).|Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)														---	---	---	---
POLE	5426	broad.mit.edu	37	12	133214612	133214612	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133214612T>C	uc001uks.1	-	41	5710	c.5666A>G	c.(5665-5667)TAC>TGC	p.Y1889C	POLE_uc001ukq.1_Missense_Mutation_p.Y99C|POLE_uc001ukr.1_Missense_Mutation_p.Y693C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1889					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133234500	133234500	+	Missense_Mutation	SNP	C	T	T	rs114315196	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133234500C>T	uc001uks.1	-	27	3376	c.3332G>A	c.(3331-3333)CGG>CAG	p.R1111Q	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1111					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245074	133245074	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133245074T>G	uc001uks.1	-	19	2085	c.2041A>C	c.(2041-2043)AGC>CGC	p.S681R	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.S654R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	681					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLE	5426	broad.mit.edu	37	12	133249803	133249803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133249803C>T	uc001uks.1	-	14	1464	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V447I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	474					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133291482	133291482	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133291482A>G	uc009zyv.2	+	2	257	c.230A>G	c.(229-231)AAC>AGC	p.N77S	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.N77S	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	77	Interaction with KEAP1.					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133306795	133306795	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133306795T>C	uc001ukx.2	-	11	2020	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	ANKLE2_uc009zyw.1_Missense_Mutation_p.I6M	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133324563	133324563	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133324563T>C	uc001ukx.2	-	5	1152	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	ANKLE2_uc001uky.3_Missense_Mutation_p.N300S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	362						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133350896	133350896	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133350896G>A	uc001ukz.1	-	23	4713	c.4154C>T	c.(4153-4155)CCG>CTG	p.P1385L		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1385	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363022	133363022	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133363022C>T	uc001ukz.1	-	15	3585	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	GOLGA3_uc001ula.1_Missense_Mutation_p.R1009H|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1009H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1009	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433166	133433166	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433166T>C	uc001ulf.2	-	10	1237	c.1153A>G	c.(1153-1155)ATC>GTC	p.I385V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.I373V|CHFR_uc010tbs.1_Missense_Mutation_p.I385V|CHFR_uc001uld.2_Missense_Mutation_p.I344V|CHFR_uc010tbt.1_Missense_Mutation_p.I293V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	385					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133433184	133433184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133433184T>C	uc001ulf.2	-	10	1219	c.1135A>G	c.(1135-1137)ATG>GTG	p.M379V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.M367V|CHFR_uc010tbs.1_Missense_Mutation_p.M379V|CHFR_uc001uld.2_Missense_Mutation_p.M338V|CHFR_uc010tbt.1_Missense_Mutation_p.M287V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	379					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)														---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20039713	20039713	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20039713A>G	uc001umd.2	-						TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_Intron	NM_199254	NP_954863			TPTE and PTEN homologous inositol lipid							endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20412952	20412952	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20412952C>T	uc010tcn.1	-	5	1025	c.760G>A	c.(760-762)GGA>AGA	p.G254R	ZMYM5_uc001umm.1_Missense_Mutation_p.G78R|ZMYM5_uc001umn.2_Missense_Mutation_p.G254R|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	254						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)														---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20579332	20579332	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20579332G>T	uc001umr.2	+	6	1550	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	ZMYM2_uc001umq.2_Nonsense_Mutation_p.G331*|ZMYM2_uc001ums.2_Nonsense_Mutation_p.G418*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.G418*|ZMYM2_uc010tco.1_RNA	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	418	MYM-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373315	21373315	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373315A>G	uc001unq.3	-	16	2347	c.2311T>C	c.(2311-2313)TAT>CAT	p.Y771H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	771					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21373449	21373449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21373449C>T	uc001unq.3	-	16	2213	c.2177G>A	c.(2176-2178)TGG>TAG	p.W726*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	726					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562755	21562755	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562755C>T	uc009zzs.2	-	4	1529	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	LATS2_uc001unr.3_Silent_p.A388A	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	388					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562993	21562993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562993G>A	uc009zzs.2	-	4	1291	c.926C>T	c.(925-927)GCC>GTC	p.A309V	LATS2_uc001unr.3_Missense_Mutation_p.A309V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	309					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)														---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21736007	21736007	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21736007C>T	uc001unt.2	-	5	845	c.751G>A	c.(751-753)GCC>ACC	p.A251T	SKA3_uc001unv.2_Missense_Mutation_p.A169T|SKA3_uc001unu.2_Missense_Mutation_p.A251T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	251					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0																		---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22275428	22275428	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22275428C>A	uc001uog.2	+	3	1318	c.481C>A	c.(481-483)CGA>AGA	p.R161R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23904580	23904580	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23904580G>T	uc001uon.2	-	10	14024	c.13435C>A	c.(13435-13437)CTT>ATT	p.L4479I	SACS_uc001uoo.2_Missense_Mutation_p.L4332I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4479	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24233272	24233272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24233272G>A	uc001uov.1	+	6	593	c.529G>A	c.(529-531)GCT>ACT	p.A177T	TNFRSF19_uc001uot.2_Missense_Mutation_p.A177T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A45T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A177T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	177	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)														---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24453405	24453405	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24453405A>G	uc001uox.3	-	4	639	c.539_splice	c.e4+1	p.R180_splice		NM_005932	NP_005923			mitochondrial intermediate peptidase precursor						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)														---	---	---	---
C1QTNF9	338872	broad.mit.edu	37	13	24890300	24890300	+	Silent	SNP	C	T	T	rs140529849		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24890300C>T	uc001upj.2	+	2	220	c.159C>T	c.(157-159)GGC>GGT	p.G53G	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	53	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25072362	25072362	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25072362T>C	uc001upl.2	-	6	589	c.483A>G	c.(481-483)GGA>GGG	p.G161G	PARP4_uc010tdc.1_Silent_p.G161G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	161					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25276190	25276190	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25276190G>A	uc001upp.2	+	14	2186	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP12A_uc010aaa.2_Missense_Mutation_p.V673M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	667	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)													---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25451230	25451230	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25451230A>G	uc001upr.2	+	34	4720	c.4679A>G	c.(4678-4680)GAG>GGG	p.E1560G	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1556G|RNF17_uc001ups.2_Missense_Mutation_p.E1499G|RNF17_uc010aac.2_Missense_Mutation_p.E752G|RNF17_uc010aad.2_Missense_Mutation_p.E570G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1560					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)														---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25457393	25457393	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25457393A>T	uc001upt.3	-	17	4192	c.3939T>A	c.(3937-3939)CAT>CAA	p.H1313Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1313					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)														---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672238	25672238	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25672238A>T	uc001upy.2	+	1						NM_030979	NP_112241			poly(A) binding protein, cytoplasmic 3						mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
FAM123A	219287	broad.mit.edu	37	13	25745239	25745239	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25745239C>T	uc001uqb.2	-	1	619	c.519G>A	c.(517-519)TCG>TCA	p.S173S	FAM123A_uc001uqa.2_Silent_p.S173S|FAM123A_uc001uqc.2_Silent_p.S173S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	173										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25841985	25841985	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25841985T>C	uc001uqf.3	-	3	555	c.236A>G	c.(235-237)CAT>CGT	p.H79R	MTMR6_uc001uqe.1_Missense_Mutation_p.H79R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	79						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)														---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26163837	26163837	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26163837T>C	uc001uqk.2	+	24	2353	c.2211T>C	c.(2209-2211)GAT>GAC	p.D737D	ATP8A2_uc010tdi.1_Silent_p.D697D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D247D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	697	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)														---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26975768	26975768	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26975768C>A	uc001uqr.1	+						CDK8_uc001uqs.1_Intron|CDK8_uc001uqt.1_Intron	NM_001260	NP_001251			cyclin-dependent kinase 8						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)														---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333537	27333537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27333537T>A	uc010aal.2	-	2	650	c.428A>T	c.(427-429)TAC>TTC	p.Y143F	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	143	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)														---	---	---	---
USP12	219333	broad.mit.edu	37	13	27649324	27649324	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27649324T>A	uc001uqy.2	-							NM_182488	NP_872294			ubiquitin thiolesterase 12						protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)														---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28537373	28537373	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28537373G>T	uc001urv.2	-	3	995	c.821C>A	c.(820-822)CCT>CAT	p.P274H		NM_001265	NP_001256	Q99626	CDX2_HUMAN	caudal type homeobox 2	274					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)				T	ETV6	AML								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608021	28608021	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28608021T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28624226	28624226	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28624226T>C	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28866538	28866538	+	Missense_Mutation	SNP	A	G	G	rs77051153		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28866538A>G	uc001urz.2	+	18	2113	c.2105A>G	c.(2104-2106)GAA>GGA	p.E702G	PAN3_uc001ury.2_Missense_Mutation_p.E536G|PAN3_uc001urx.2_Missense_Mutation_p.E648G	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	848	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)														---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28931709	28931709	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28931709C>T	uc001usb.3	-	15	2515	c.2230G>A	c.(2230-2232)GCA>ACA	p.A744T		NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	744	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28959109	28959109	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28959109A>C	uc001usb.3	-	14	2314	c.2029T>G	c.(2029-2031)TCC>GCC	p.S677A	FLT1_uc010aar.1_Missense_Mutation_p.S677A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	677	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29855913	29855913	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29855913C>G	uc001usl.3	+	4	2805	c.2747C>G	c.(2746-2748)GCC>GGC	p.A916G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---
ALOX5AP	241	broad.mit.edu	37	13	31338107	31338107	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31338107G>A	uc001utf.1	+	5	424	c.350G>A	c.(349-351)CGC>CAC	p.R117H	ALOX5AP_uc010tdr.1_Missense_Mutation_p.R174H	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	117	Inhibitor binding.|Helical.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding				0		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)														---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31821211	31821211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31821211T>C	uc010aaz.2	+	5	432	c.322T>C	c.(322-324)TGG>CGG	p.W108R		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	108	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)														---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32332460	32332460	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32332460A>G	uc001utt.2	+	2	231	c.160A>G	c.(160-162)AAT>GAT	p.N54D	RXFP2_uc010aba.2_Missense_Mutation_p.N37D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	54	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32808832	32808832	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32808832A>G	uc001utx.2	+	42	6145	c.5649A>G	c.(5647-5649)GCA>GCG	p.A1883A	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32839709	32839709	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32839709G>T	uc001utx.2	+	54	8398	c.7902G>T	c.(7900-7902)GGG>GGT	p.G2634G	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.G189G|FRY_uc001utz.2_Silent_p.G159G|FRY_uc010tdx.1_Silent_p.G4G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32841346	32841346	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32841346G>A	uc001utx.2	+	55	8482	c.7986G>A	c.(7984-7986)TCG>TCA	p.S2662S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.S217S|FRY_uc001utz.2_Silent_p.S187S|FRY_uc010tdx.1_Silent_p.S32S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32868689	32868689	+	Missense_Mutation	SNP	G	T	T	rs147607259	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32868689G>T	uc001utx.2	+	60	9261	c.8765G>T	c.(8764-8766)CGG>CTG	p.R2922L	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.R453L|FRY_uc010tdx.1_Missense_Mutation_p.R292L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906609	32906609	+	Missense_Mutation	SNP	A	T	T	rs80359778		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32906609A>T	uc001uub.1	+	10	1221	c.994A>T	c.(994-996)ATT>TTT	p.I332F	BRCA2_uc001uua.1_Missense_Mutation_p.I209F	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	332					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32945087	32945087	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32945087T>A	uc001uub.1	+							NM_000059	NP_000050			breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
KL	9365	broad.mit.edu	37	13	33635256	33635256	+	Silent	SNP	C	T	T	rs138723796	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33635256C>T	uc001uus.2	+	4	2048	c.2040C>T	c.(2038-2040)CAC>CAT	p.H680H	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	680	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33692261	33692261	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33692261T>A	uc001uuw.2	-	8	2348	c.2222A>T	c.(2221-2223)GAC>GTC	p.D741V	STARD13_uc001uuu.2_Missense_Mutation_p.D733V|STARD13_uc001uuv.2_Missense_Mutation_p.D623V|STARD13_uc001uux.2_Missense_Mutation_p.D706V|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	741	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33703177	33703177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33703177G>A	uc001uuw.2	-	5	1763	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	STARD13_uc001uuu.2_Missense_Mutation_p.T538M|STARD13_uc001uuv.2_Missense_Mutation_p.T428M|STARD13_uc001uux.2_Missense_Mutation_p.T511M|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.T531M	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36242655	36242655	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36242655A>C	uc001uvb.2	+	57	8955	c.8749A>C	c.(8749-8751)AGG>CGG	p.R2917R	NBEA_uc010abi.2_Silent_p.R1575R|NBEA_uc010tef.1_Silent_p.R710R|NBEA_uc001uvd.2_Silent_p.R495R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2917	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36348794	36348794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36348794G>A	uc001uvf.2	-	18	2408	c.2175C>T	c.(2173-2175)GAC>GAT	p.D725D	DCLK1_uc001uve.3_Silent_p.D418D|DCLK1_uc010teh.1_Missense_Mutation_p.R394C|DCLK1_uc010abk.2_Silent_p.D245D	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	Error:Variant_position_missing_in_O15075_after_alignment					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36699987	36699987	+	Silent	SNP	C	T	T	rs141898843		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36699987C>T	uc001uvf.2	-	2	521	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	96	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909169	36909169	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36909169C>T	uc001uvn.2	-	3	1069	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SPG20_uc010ten.1_Missense_Mutation_p.G267R|SPG20_uc001uvm.2_Missense_Mutation_p.G267R|SPG20_uc001uvo.2_Missense_Mutation_p.G267R|SPG20_uc001uvq.2_Missense_Mutation_p.G267R|SPG20_uc001uvp.2_Missense_Mutation_p.G267R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	267					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---
FAM48A	55578	broad.mit.edu	37	13	37614783	37614783	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37614783T>C	uc001uwg.2	-	8	691	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	FAM48A_uc010abt.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y148C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y149C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y148C|FAM48A_uc010tes.1_Missense_Mutation_p.Y136C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y148C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	148					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)														---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38153250	38153250	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38153250A>G	uc001uwo.3	-	14	1918	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D	POSTN_uc010tet.1_Silent_p.D128D|POSTN_uc001uwp.3_Silent_p.D600D|POSTN_uc001uwr.2_Silent_p.D600D|POSTN_uc001uwq.2_Silent_p.D600D|POSTN_uc010teu.1_Silent_p.D600D|POSTN_uc010tev.1_Silent_p.D600D|POSTN_uc010tew.1_Silent_p.D600D	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	600	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39263259	39263259	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39263259A>T	uc001uwv.2	+	1	2087	c.1778A>T	c.(1777-1779)GAT>GTT	p.D593V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	593	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39425256	39425256	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39425256T>G	uc001uwv.2	+						FREM2_uc001uww.2_Intron	NM_207361	NP_997244			FRAS1-related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39432107	39432107	+	Silent	SNP	C	T	T	rs142939064		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39432107C>T	uc001uwv.2	+	13	7461	c.7152C>T	c.(7150-7152)GAC>GAT	p.D2384D	FREM2_uc001uww.2_Silent_p.D470D	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2384	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39450201	39450201	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39450201G>A	uc001uwv.2	+	19	8633	c.8324G>A	c.(8323-8325)GGC>GAC	p.G2775D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2775	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587269	39587269	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587269A>T	uc001uwy.2	-	11	2993	c.2120T>A	c.(2119-2121)TTT>TAT	p.F707Y	C13orf23_uc001uwz.2_Missense_Mutation_p.F685Y	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	707	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39587655	39587655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587655T>C	uc001uwy.2	-	11	2607	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	C13orf23_uc001uwz.2_Silent_p.S556S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	578	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40251660	40251660	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40251660C>T	uc001uxh.2	+	5	584	c.484C>T	c.(484-486)CTG>TTG	p.L162L	COG6_uc001uxi.2_Silent_p.L110L|COG6_uc010acb.2_Silent_p.L162L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	162					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
COG6	57511	broad.mit.edu	37	13	40261756	40261756	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40261756A>G	uc001uxh.2	+	9	1005	c.905A>G	c.(904-906)CAT>CGT	p.H302R	COG6_uc001uxi.2_Missense_Mutation_p.H250R|COG6_uc010acb.2_Missense_Mutation_p.H302R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	302					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41706252	41706252	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41706252A>T	uc001uxu.1	-	1	685	c.396T>A	c.(394-396)GGT>GGA	p.G132G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.G66G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	132	BTB.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)														---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41902913	41902913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41902913A>G	uc001uyf.2	+	7	1069	c.745A>G	c.(745-747)AAC>GAC	p.N249D	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.N249D|NAA16_uc001uyd.3_Missense_Mutation_p.N249D	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	249	TPR 4.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1																		---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42295544	42295544	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42295544A>G	uc001uyj.2	-	25	2996	c.2926T>C	c.(2926-2928)TCT>CCT	p.S976P	KIAA0564_uc001uyk.2_Missense_Mutation_p.S976P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	976						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42303761	42303761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42303761G>T	uc001uyj.2	-	23	2625	c.2555C>A	c.(2554-2556)GCT>GAT	p.A852D	KIAA0564_uc001uyk.2_Missense_Mutation_p.A852D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	852						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42385394A>G	uc001uyj.2	-	17	2100	c.2030T>C	c.(2029-2031)CTT>CCT	p.L677P	KIAA0564_uc001uyk.2_Missense_Mutation_p.L677P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	677						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42407516	42407516	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42407516A>C	uc001uyj.2	-	13	1647	c.1577T>G	c.(1576-1578)GTA>GGA	p.V526G	KIAA0564_uc001uyk.2_Missense_Mutation_p.V526G	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	526						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42457538	42457538	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42457538C>T	uc001uyj.2	-	9	1135	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	KIAA0564_uc001uyk.2_Silent_p.V355V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	355						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42729868	42729868	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42729868A>G	uc001uyl.1	+	5	576	c.555A>G	c.(553-555)CGA>CGG	p.R185R	DGKH_uc010tfh.1_Silent_p.R185R|DGKH_uc001uym.1_Silent_p.R185R|DGKH_uc010tfi.1_Missense_Mutation_p.D18G|DGKH_uc010tfj.1_Silent_p.R40R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.R40R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	185	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42795459	42795459	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42795459T>C	uc001uyl.1	+	29	3523	c.3502T>C	c.(3502-3504)TAC>CAC	p.Y1168H	DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.Y1023H|DGKH_uc001uyp.2_Intron	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1168	SAM.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42872729	42872729	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42872729A>T	uc001uys.1	+	7	587	c.412A>T	c.(412-414)ATT>TTT	p.I138F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	138					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42893313	42893313	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42893313C>A	uc001uys.1	+	13	5830	c.5655C>A	c.(5653-5655)TCC>TCA	p.S1885S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1885					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)														---	---	---	---
C13orf31	144811	broad.mit.edu	37	13	44458051	44458051	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:44458051G>T	uc010acg.2	+	4	1371	c.886G>T	c.(886-888)GCA>TCA	p.A296S	C13orf31_uc001uzf.3_Missense_Mutation_p.A296S	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	296											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)														---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45553376	45553376	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45553376A>G	uc001uzp.2	-	5	725	c.683T>C	c.(682-684)ATC>ACC	p.I228T		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	228					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)														---	---	---	---
KCTD4	386618	broad.mit.edu	37	13	45768438	45768438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45768438C>T	uc001uzx.3	-	2	669	c.265G>A	c.(265-267)GTC>ATC	p.V89I	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	89	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)														---	---	---	---
GTF2F2	2963	broad.mit.edu	37	13	45841416	45841416	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45841416G>A	uc001uzw.2	+	7	695	c.535G>A	c.(535-537)GAT>AAT	p.D179N	GTF2F2_uc001uzv.2_Missense_Mutation_p.D179N	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	179					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)														---	---	---	---
COG3	83548	broad.mit.edu	37	13	46093104	46093104	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46093104G>A	uc001vak.2	+	19	2130	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	COG3_uc010tfv.1_Missense_Mutation_p.E514K|COG3_uc010aci.2_Missense_Mutation_p.E453K	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	677					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287717	46287717	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287717A>G	uc001van.1	+	3	637	c.557A>G	c.(556-558)AAC>AGC	p.N186S	SPERT_uc001vao.2_Missense_Mutation_p.N150S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	186	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287807	46287807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287807C>T	uc001van.1	+	3	727	c.647C>T	c.(646-648)TCG>TTG	p.S216L	SPERT_uc001vao.2_Missense_Mutation_p.S180L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	216						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357728	46357728	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46357728G>T	uc001vap.2	-	2	682	c.600C>A	c.(598-600)ACC>ACA	p.T200T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	200					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549903	46549903	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46549903C>A	uc010tfw.1	-	11	1989	c.1983G>T	c.(1981-1983)GAG>GAT	p.E661D	ZC3H13_uc001vas.1_Missense_Mutation_p.E661D|ZC3H13_uc001vat.1_Missense_Mutation_p.E661D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	661	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559477	46559477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46559477G>A	uc010tfw.1	-	9	1681	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R559*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R559*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	559	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46638817	46638817	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46638817G>A	uc001vaw.2	-	8	829	c.762C>T	c.(760-762)GAC>GAT	p.D254D	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.D217D	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	254					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46661956	46661956	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46661956C>T	uc001vaw.2	-	2	142	c.75_splice	c.e2-1	p.S25_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.S25_splice	NM_001872	NP_001863			plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)														---	---	---	---
C13orf18	80183	broad.mit.edu	37	13	46942256	46942256	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46942256C>T	uc010acl.2	-	5	1352	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	C13orf18_uc001vbf.3_Silent_p.Q182Q|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Silent_p.Q92Q|C13orf18_uc010acm.2_Silent_p.Q114Q|C13orf18_uc010acn.2_Silent_p.Q34Q|C13orf18_uc001vbe.3_Silent_p.Q249Q|C13orf18_uc001vbh.3_Silent_p.Q249Q|C13orf18_uc001vbi.3_Silent_p.Q92Q|C13orf18_uc010aco.1_Silent_p.Q249Q	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	249											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)														---	---	---	---
ESD	2098	broad.mit.edu	37	13	47351597	47351597	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47351597C>T	uc001vbn.2	-	9	945	c.762G>A	c.(760-762)TTG>TTA	p.L254L	ESD_uc001vbo.2_Silent_p.L254L|ESD_uc001vbp.1_Silent_p.L112L	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	254						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47355755	47355755	+	Intron	SNP	A	G	G	rs35178907		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47355755A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron|ESD_uc001vbp.1_5'Flank	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
ESD	2098	broad.mit.edu	37	13	47361145	47361145	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47361145A>G	uc001vbn.2	-						ESD_uc001vbo.2_Intron	NM_001984	NP_001975			esterase D/formylglutathione hydrolase							cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)													---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409003	47409003	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47409003T>G	uc001vbq.2	-	3	1519	c.1385A>C	c.(1384-1386)GAC>GCC	p.D462A	HTR2A_uc001vbr.2_Missense_Mutation_p.D362A|HTR2A_uc010acr.2_Missense_Mutation_p.D462A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	462	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---
RB1	5925	broad.mit.edu	37	13	48921969	48921969	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48921969A>G	uc001vcb.2	+	5	675	c.509A>G	c.(508-510)GAA>GGA	p.E170G	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	170					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
LPAR6	10161	broad.mit.edu	37	13	48986487	48986487	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48986487T>C	uc010acu.2	-	1	1167	c.73A>G	c.(73-75)AGC>GGC	p.S25G	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.S25G|LPAR6_uc001vcf.2_Missense_Mutation_p.S25G	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	25	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4																		---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49781431	49781431	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49781431G>A	uc001vcm.2	+	26	3802	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.R1166Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.R1110Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1166						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)														---	---	---	---
CDADC1	81602	broad.mit.edu	37	13	49833617	49833617	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49833617T>C	uc001vcu.2	+	4	464	c.388T>C	c.(388-390)TCC>CCC	p.S130P	CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	130							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)														---	---	---	---
CAB39L	81617	broad.mit.edu	37	13	49885125	49885125	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49885125A>G	uc001vcw.2	-	9	1337	c.839T>C	c.(838-840)TTT>TCT	p.F280S	CAB39L_uc001vcx.2_Missense_Mutation_p.F280S|CAB39L_uc010adf.2_Missense_Mutation_p.F277S	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	280					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50050783	50050783	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50050783T>A	uc001vcz.2	+	7	1419	c.513T>A	c.(511-513)TGT>TGA	p.C171*	SETDB2_uc010adg.2_Nonsense_Mutation_p.C147*|SETDB2_uc001vcy.3_Nonsense_Mutation_p.C159*|SETDB2_uc010adh.2_Nonsense_Mutation_p.C159*|SETDB2_uc001vda.2_Nonsense_Mutation_p.C159*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	171	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50055082	50055082	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50055082G>A	uc001vcz.2	+	9	1929	c.1023_splice	c.e9-1	p.G341_splice	SETDB2_uc010adg.2_Splice_Site_p.G317_splice|SETDB2_uc001vcy.3_Splice_Site_p.G329_splice|SETDB2_uc010adh.2_Splice_Site_p.G329_splice|SETDB2_uc001vda.2_Splice_Site_p.G329_splice	NM_031915	NP_114121			SET domain, bifurcated 2 isoform a						cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50279883	50279883	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50279883A>G	uc001vdj.2	-	15	1661	c.1246T>C	c.(1246-1248)TTC>CTC	p.F416L		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	416	ARM 9.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)														---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52515217	52515217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52515217C>T	uc001vfw.2	-	16	3713	c.3556G>A	c.(3556-3558)GGT>AGT	p.G1186S	ATP7B_uc010adv.2_Missense_Mutation_p.G756S|ATP7B_uc001vfx.2_Missense_Mutation_p.G979S|ATP7B_uc001vfy.2_Missense_Mutation_p.G1075S|ATP7B_uc010tgt.1_Missense_Mutation_p.G1121S|ATP7B_uc010tgu.1_Missense_Mutation_p.G1138S|ATP7B_uc010tgv.1_Missense_Mutation_p.G1108S|ATP7B_uc001vfv.2_Missense_Mutation_p.G458S|ATP7B_uc010tgs.1_Missense_Mutation_p.G397S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1186	Cytoplasmic (Potential).		G -> S (in WD; possibly not disease- causing).|G -> C (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52523920	52523920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52523920G>A	uc001vfw.2	-	12	2900	c.2743C>T	c.(2743-2745)CAG>TAG	p.Q915*	ATP7B_uc010adv.2_Nonsense_Mutation_p.Q485*|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Nonsense_Mutation_p.Q804*|ATP7B_uc010tgt.1_Nonsense_Mutation_p.Q915*|ATP7B_uc010tgu.1_Nonsense_Mutation_p.Q867*|ATP7B_uc010tgv.1_Nonsense_Mutation_p.Q837*|ATP7B_uc001vfv.2_Nonsense_Mutation_p.Q187*|ATP7B_uc010tgs.1_Nonsense_Mutation_p.Q187*	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	915	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52539088	52539088	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52539088C>T	uc001vfw.2	-	5	1946	c.1789G>A	c.(1789-1791)GTT>ATT	p.V597I	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597I|ATP7B_uc001vfy.2_Missense_Mutation_p.V486I|ATP7B_uc010tgt.1_Missense_Mutation_p.V597I|ATP7B_uc010tgu.1_Missense_Mutation_p.V597I|ATP7B_uc010tgv.1_Missense_Mutation_p.V597I|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52663438	52663438	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52663438T>C	uc001vge.2	-	14	1360	c.1220A>G	c.(1219-1221)TAC>TGC	p.Y407C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	407							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	A	A	rs144799411	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952229G>A	uc001vgo.2	-	5	2421	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	THSD1_uc001vgp.2_Missense_Mutation_p.R573C|THSD1_uc010tgz.1_Missense_Mutation_p.R247C|THSD1_uc010aea.2_Missense_Mutation_p.R87C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	626	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952905	52952905	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52952905T>C	uc001vgo.2	-	5	1745	c.1200A>G	c.(1198-1200)CCA>CCG	p.P400P	THSD1_uc001vgp.2_Silent_p.P347P|THSD1_uc010tgz.1_Silent_p.P21P|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	400	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53420245	53420245	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53420245C>T	uc001vhi.2	-	1	2530	c.2327G>A	c.(2326-2328)CGC>CAC	p.R776H	PCDH8_uc001vhj.2_Missense_Mutation_p.R776H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208481	58208481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208481G>A	uc001vhq.1	+	1	2693	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	PCDH17_uc010aec.1_Missense_Mutation_p.A601T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	601	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208684	58208684	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208684C>T	uc001vhq.1	+	1	2896	c.2004C>T	c.(2002-2004)CAC>CAT	p.H668H	PCDH17_uc010aec.1_Silent_p.H668H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	668	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208869	58208869	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208869G>A	uc001vhq.1	+	1	3081	c.2189G>A	c.(2188-2190)TGC>TAC	p.C730Y	PCDH17_uc010aec.1_Missense_Mutation_p.C730Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60240957	60240957	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60240957C>A	uc001vht.2	-	28	3562	c.3343G>T	c.(3343-3345)GAA>TAA	p.E1115*	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1115					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60545158	60545158	+	Missense_Mutation	SNP	G	T	T	rs150023947	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60545158G>T	uc001vht.2	-	16	2006	c.1787C>A	c.(1786-1788)CCT>CAT	p.P596H	DIAPH3_uc001vhu.2_Missense_Mutation_p.P333H|DIAPH3_uc001vhv.2_Missense_Mutation_p.P174H	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	596	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60616864	60616864	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60616864G>T	uc001vht.2	-	5	805	c.586C>A	c.(586-588)CTG>ATG	p.L196M	DIAPH3_uc001vhw.1_Missense_Mutation_p.L185M|DIAPH3_uc010aed.1_Missense_Mutation_p.L150M|DIAPH3_uc010aee.1_Missense_Mutation_p.L126M|uc001vhx.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	196	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986186	61986186	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61986186A>G	uc001vid.3	-	2	2410	c.2046T>C	c.(2044-2046)AGT>AGC	p.S682S	PCDH20_uc010thj.1_Silent_p.S682S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	655	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72049923	72049923	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72049923T>C	uc010thn.1	-	10	2352	c.1929A>G	c.(1927-1929)GCA>GCG	p.A643A	DACH1_uc010tho.1_Silent_p.A495A|DACH1_uc010thp.1_Silent_p.A441A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	695	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72063126	72063126	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72063126T>C	uc010thn.1	-						DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937			dachshund homolog 1 isoform a						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72146996	72146996	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72146996G>T	uc010thn.1	-	5	1698	c.1275C>A	c.(1273-1275)TCC>TCA	p.S425S	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	477					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73349461	73349461	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73349461A>G	uc001vix.3	-	6	1249	c.875T>C	c.(874-876)GTG>GCG	p.V292A	DIS3_uc001viy.3_Missense_Mutation_p.V262A|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	292					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73350153	73350153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73350153A>G	uc001vix.3	-	5	1106	c.732T>C	c.(730-732)GGT>GGC	p.G244G	DIS3_uc001viy.3_Silent_p.G214G|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	244					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75861153	75861153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75861153A>G	uc001vjl.1	-	21	4019	c.3672T>C	c.(3670-3672)CAT>CAC	p.H1224H	TBC1D4_uc010tht.1_Silent_p.H434H|TBC1D4_uc010thu.1_Silent_p.H381H|TBC1D4_uc010aer.2_Silent_p.H1216H|TBC1D4_uc010aes.2_Silent_p.H1161H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1224						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76408473	76408473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76408473C>T	uc001vjv.2	+	14	3237	c.2477C>T	c.(2476-2478)GCT>GTT	p.A826V	LMO7_uc010thv.1_Missense_Mutation_p.A777V|LMO7_uc001vjt.1_Missense_Mutation_p.A725V|LMO7_uc010thw.1_Missense_Mutation_p.A676V|LMO7_uc001vjw.1_Missense_Mutation_p.A732V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1111	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)														---	---	---	---
KCTD12	115207	broad.mit.edu	37	13	77459345	77459345	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77459345G>C	uc010aeu.1	-	1	1196	c.939C>G	c.(937-939)ATC>ATG	p.I313M	KCTD12_uc001vka.1_Missense_Mutation_p.I313M	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	313						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)												OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77671955	77671955	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77671955T>A	uc001vkf.2	-	57	9311	c.9220A>T	c.(9220-9222)ATG>TTG	p.M3074L	MYCBP2_uc010aev.2_Missense_Mutation_p.M2478L|MYCBP2_uc001vkg.1_Missense_Mutation_p.M597L|MYCBP2_uc010aew.2_Missense_Mutation_p.M460L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77847693	77847693	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77847693C>T	uc001vkf.2	-	6	836	c.745G>A	c.(745-747)GCT>ACT	p.A249T	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492418	78492418	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492418C>A	uc001vko.2	-	1	549	c.291G>T	c.(289-291)AAG>AAT	p.K97N	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K97N|EDNRB_uc010aez.1_Missense_Mutation_p.K97N|EDNRB_uc001vkp.1_Missense_Mutation_p.K180N|EDNRB_uc010afa.1_Missense_Mutation_p.K97N	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	97	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219069	79219069	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219069A>G	uc001vkw.1	-	2	195	c.136T>C	c.(136-138)TTG>CTG	p.L46L	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L46L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	46	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219087	79219087	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79219087T>A	uc001vkw.1	-	2	177	c.118A>T	c.(118-120)ATT>TTT	p.I40F	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.I40F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	40	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)														---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79939848	79939848	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79939848A>G	uc001vkz.2	-	9	1311	c.1297T>C	c.(1297-1299)TAT>CAT	p.Y433H	RBM26_uc001vky.2_Missense_Mutation_p.Y428H|RBM26_uc001vla.2_Missense_Mutation_p.Y428H|RBM26_uc001vkx.2_Missense_Mutation_p.Y140H	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	428					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)														---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328670	88328670	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88328670C>T	uc001vln.2	+	2	1246	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	SLITRK5_uc010tic.1_Missense_Mutation_p.R102C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	343	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92101185	92101185	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92101185A>G	uc010tif.1	+							NM_004466	NP_004457			glypican 5 precursor							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---
GPC6	10082	broad.mit.edu	37	13	93879729	93879729	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:93879729C>T	uc001vlt.2	+	1	652	c.20C>T	c.(19-21)GCT>GTT	p.A7V	GPC6_uc010tig.1_Missense_Mutation_p.A7V	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	7						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)														OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95092303	95092303	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95092303G>A	uc001vlv.3	-	8	1836	c.1409C>T	c.(1408-1410)CCC>CTC	p.P470L	DCT_uc010afh.2_Missense_Mutation_p.P503L	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	470	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)														---	---	---	---
SOX21	11166	broad.mit.edu	37	13	95364135	95364135	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95364135A>G	uc001vma.2	-	1	255	c.169T>C	c.(169-171)TTC>CTC	p.F57L	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	57	HMG box.				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)																	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293540	96293540	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96293540G>A	uc001vmk.2	-						DZIP1_uc001vml.2_Intron|DZIP1_uc001vmn.2_Intron	NM_198968	NP_945319			DAZ interacting protein 1 isoform 2						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97484962	97484962	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:97484962G>T	uc001vmw.2	+	2	950	c.926G>T	c.(925-927)CGC>CTC	p.R309L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	309	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)																	---	---	---	---
RAP2A	5911	broad.mit.edu	37	13	98116606	98116606	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98116606C>T	uc001vnd.2	+	2	712	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	154					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)															---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98660323	98660323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98660323A>G	uc001vnf.1	+	15	1792	c.1727A>G	c.(1726-1728)GAT>GGT	p.D576G	IPO5_uc001vne.2_Missense_Mutation_p.D594G|IPO5_uc010tik.1_Missense_Mutation_p.D451G|IPO5_uc010til.1_Missense_Mutation_p.D516G|IPO5_uc001vng.1_Missense_Mutation_p.D197G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	576					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98662198	98662198	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98662198T>A	uc001vnf.1	+	16	1929	c.1864T>A	c.(1864-1866)TAC>AAC	p.Y622N	IPO5_uc001vne.2_Missense_Mutation_p.Y640N|IPO5_uc010tik.1_Missense_Mutation_p.Y497N|IPO5_uc010til.1_Missense_Mutation_p.Y562N|IPO5_uc001vng.1_Missense_Mutation_p.Y243N	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	622					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98666423	98666423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98666423A>T	uc001vne.2	+	22	2514	c.2334A>T	c.(2332-2334)GAA>GAT	p.E778D		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	760					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98671963	98671963	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98671963G>A	uc001vne.2	+	27	3199	c.3019G>A	c.(3019-3021)GTT>ATT	p.V1007I		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	989					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673356	98673356	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98673356A>G	uc001vne.2	+	28	3410	c.3230A>G	c.(3229-3231)AAA>AGA	p.K1077R		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1059					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RNF113B	140432	broad.mit.edu	37	13	98829068	98829068	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98829068C>A	uc001vnk.2	-	1	454	c.423G>T	c.(421-423)CGG>CGT	p.R141R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	141							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)															---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99045891	99045891	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99045891T>C	uc001vnj.2	+						FARP1_uc001vnh.2_Intron	NM_005766	NP_005757			FERM, RhoGEF, and pleckstrin domain protein 1						regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99461670	99461670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99461670G>A	uc001vnt.2	-	48	5361	c.5306C>T	c.(5305-5307)ACC>ATC	p.T1769I	DOCK9_uc001vnw.2_Missense_Mutation_p.T1768I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1746I|DOCK9_uc001vnq.2_Missense_Mutation_p.T318I|DOCK9_uc001vnr.2_Missense_Mutation_p.T412I|DOCK9_uc010tin.1_Missense_Mutation_p.T389I|DOCK9_uc001vns.2_Missense_Mutation_p.T318I|DOCK9_uc010tio.1_Missense_Mutation_p.T438I|DOCK9_uc010tip.1_Missense_Mutation_p.T479I|DOCK9_uc001vnu.1_Missense_Mutation_p.T318I|DOCK9_uc010tiq.1_Missense_Mutation_p.T724I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1769	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99476757	99476757	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99476757G>A	uc001vnt.2	-	46	5083	c.5028C>T	c.(5026-5028)GGC>GGT	p.G1676G	DOCK9_uc001vnw.2_Silent_p.G1675G|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.G1653G|DOCK9_uc001vnq.2_Silent_p.G225G|DOCK9_uc001vnr.2_Silent_p.G319G|DOCK9_uc010tin.1_Silent_p.G296G|DOCK9_uc001vns.2_Silent_p.G225G|DOCK9_uc010tio.1_Silent_p.G345G|DOCK9_uc010tip.1_Silent_p.G386G|DOCK9_uc001vnu.1_Silent_p.G225G|DOCK9_uc010tiq.1_Silent_p.G631G	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1676	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99520175	99520175	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99520175G>A	uc001vnt.2	-						DOCK9_uc001vnw.2_Intron|DOCK9_uc001vnv.1_Intron|DOCK9_uc010tir.1_Intron|DOCK9_uc010tis.1_Intron|DOCK9_uc010tit.1_Intron|DOCK9_uc010tiq.1_Intron|DOCK9_uc010afu.1_Intron	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99538086	99538086	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99538086C>T	uc001vnt.2	-	20	2195	c.2140_splice	c.e20-1	p.I714_splice	DOCK9_uc001vnw.2_Splice_Site_p.I713_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.I714_splice|DOCK9_uc010tis.1_Splice_Site_p.I713_splice|DOCK9_uc010tit.1_Splice_Site_p.I714_splice|DOCK9_uc010afu.1_Splice_Site_p.I529_splice	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100617835	100617835	+	Silent	SNP	G	A	A	rs148340592	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100617835G>A	uc001vom.1	-	2	2037	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	596					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100959498	100959498	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100959498A>T	uc001voo.2	+	15	1375	c.1337A>T	c.(1336-1338)GAT>GTT	p.D446V	PCCA_uc010aga.2_Missense_Mutation_p.D420V|PCCA_uc010tiz.1_Missense_Mutation_p.D446V|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	446	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)													---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287129	101287129	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101287129C>A	uc001vou.2	-	11	1539	c.1379G>T	c.(1378-1380)CGC>CTC	p.R460L	TMTC4_uc001vot.2_Missense_Mutation_p.R479L|TMTC4_uc010tja.1_Missense_Mutation_p.R349L|TMTC4_uc001vov.1_Missense_Mutation_p.R205L|TMTC4_uc001vow.1_Missense_Mutation_p.R243L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	460	TPR 1.|Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101290265	101290265	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101290265C>T	uc001vou.2	-	7	856	c.696G>A	c.(694-696)GCG>GCA	p.A232A	TMTC4_uc001vot.2_Silent_p.A251A|TMTC4_uc010tja.1_Silent_p.A121A|TMTC4_uc001vov.1_5'UTR|TMTC4_uc001vow.1_Silent_p.A15A	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	232	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101707766	101707766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101707766C>T	uc001vox.1	-	44	5287	c.5098G>A	c.(5098-5100)GTG>ATG	p.V1700M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1700	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101733920	101733920	+	Silent	SNP	C	T	T	rs151200877	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101733920C>T	uc001vox.1	-	34	4032	c.3843G>A	c.(3841-3843)ACG>ACA	p.T1281T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1281	Helical; Name=S3 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101757279	101757279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101757279C>A	uc001vox.1	-	23	2791	c.2602G>T	c.(2602-2604)GGA>TGA	p.G868*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	868	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101910797	101910797	+	Silent	SNP	C	T	T	rs140469887		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101910797C>T	uc001vox.1	-	11	1452	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	NALCN_uc001voy.2_Silent_p.A136A|NALCN_uc001voz.2_Silent_p.A421A|NALCN_uc001vpa.2_Silent_p.A421A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	421	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
C13orf27	93081	broad.mit.edu	37	13	103420632	103420632	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103420632T>C	uc001vpo.2	-	4	454	c.276A>G	c.(274-276)AAA>AAG	p.K92K	C13orf27_uc001vpn.2_Silent_p.K51K|C13orf27_uc001vpp.2_Silent_p.K51K	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	92											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107145577	107145577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107145577T>C	uc001vqi.2	-	5	838	c.813A>G	c.(811-813)ACA>ACG	p.T271T		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	271	Cytoplasmic (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107148116	107148116	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107148116A>T	uc001vqi.2	-	3	504	c.479T>A	c.(478-480)ATC>AAC	p.I160N		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	160	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518877	108518877	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518877C>T	uc001vql.2	-	1	584	c.68G>A	c.(67-69)CGA>CAA	p.R23Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral to membrane	binding			skin(1)	1																		---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861796	108861796	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861796A>G	uc001vqn.2	-	2	2094	c.1821T>C	c.(1819-1821)TCT>TCC	p.S607S	LIG4_uc001vqo.2_Silent_p.S607S|LIG4_uc010agg.1_Silent_p.S540S|LIG4_uc010agf.2_Silent_p.S607S|LIG4_uc001vqp.2_Silent_p.S607S	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	607					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861807	108861807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861807C>T	uc001vqn.2	-	2	2083	c.1810G>A	c.(1810-1812)GGG>AGG	p.G604R	LIG4_uc001vqo.2_Missense_Mutation_p.G604R|LIG4_uc010agg.1_Missense_Mutation_p.G537R|LIG4_uc010agf.2_Missense_Mutation_p.G604R|LIG4_uc001vqp.2_Missense_Mutation_p.G604R	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	604					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861847	108861847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108861847C>T	uc001vqn.2	-	2	2043	c.1770G>A	c.(1768-1770)TGG>TGA	p.W590*	LIG4_uc001vqo.2_Nonsense_Mutation_p.W590*|LIG4_uc010agg.1_Nonsense_Mutation_p.W523*|LIG4_uc010agf.2_Nonsense_Mutation_p.W590*|LIG4_uc001vqp.2_Nonsense_Mutation_p.W590*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	590					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109438032	109438032	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109438032A>T	uc001vqt.1	+	5	617	c.491A>T	c.(490-492)GAT>GTT	p.D164V	MYO16_uc010agk.1_Missense_Mutation_p.D186V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	164	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109831918	109831918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109831918G>A	uc001vqt.1	+	34	5412	c.5286G>A	c.(5284-5286)CGG>CGA	p.R1762R	MYO16_uc010agk.1_Silent_p.R1784R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1762					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110822921	110822921	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110822921C>T	uc001vqw.3	-	42	3837	c.3715G>A	c.(3715-3717)GGA>AGA	p.G1239R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1239	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110853999	110853999	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110853999A>G	uc001vqw.3	-						COL4A1_uc010agl.2_Intron	NM_001845	NP_001836			alpha 1 type IV collagen preproprotein						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111147818	111147818	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111147818A>C	uc001vqx.2	+							NM_001846	NP_001837			alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111862257	111862257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111862257T>C	uc001vrs.2	+	5	689	c.439T>C	c.(439-441)TCG>CCG	p.S147P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S126P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S97P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S44P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	147					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111927973	111927973	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111927973T>C	uc001vrs.2	+	13	1680	c.1430T>C	c.(1429-1431)CTG>CCG	p.L477P	ARHGEF7_uc001vrr.2_Missense_Mutation_p.L456P|ARHGEF7_uc001vrt.2_Missense_Mutation_p.L427P|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.L299P|ARHGEF7_uc001vrv.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrw.3_Missense_Mutation_p.L299P|ARHGEF7_uc001vrx.3_Missense_Mutation_p.L299P|ARHGEF7_uc010tjo.1_Missense_Mutation_p.L374P|ARHGEF7_uc010tjp.1_Missense_Mutation_p.L221P|ARHGEF7_uc010agn.1_Missense_Mutation_p.L221P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	477	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
C13orf28	122258	broad.mit.edu	37	13	113053461	113053461	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113053461G>T	uc001vsd.1	+	4	354	c.323G>T	c.(322-324)GGC>GTC	p.G108V		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	108						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)																	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113513704	113513704	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113513704C>T	uc001vsi.3	+						ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron|ATP11A_uc010ago.2_Intron	NM_015205	NP_056020			ATPase, class VI, type 11A isoform a						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113532535	113532535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113532535A>G	uc001vsi.3	+	29	3420	c.3332A>G	c.(3331-3333)AAG>AGG	p.K1111R	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1111	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113669143	113669143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113669143G>A	uc001vsu.2	+	2	339	c.317G>A	c.(316-318)CGC>CAC	p.R106H	MCF2L_uc001vsq.2_Missense_Mutation_p.R106H|MCF2L_uc010tjr.1_Missense_Mutation_p.R49H|MCF2L_uc001vsr.2_Missense_Mutation_p.R53H|MCF2L_uc001vss.3_Missense_Mutation_p.R47H|MCF2L_uc010tjs.1_Missense_Mutation_p.R47H	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	79	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)																---	---	---	---
F7	2155	broad.mit.edu	37	13	113773089	113773089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113773089G>A	uc001vsv.2	+	9	1219	c.1168G>A	c.(1168-1170)GCC>ACC	p.A390T	F7_uc001vsw.2_Missense_Mutation_p.A368T|F7_uc010tjt.1_Missense_Mutation_p.A321T	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	390	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)													---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113975975	113975975	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113975975G>A	uc001vtm.1	+	8	1328	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	LAMP1_uc010tka.1_Silent_p.A296A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	349	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)															---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114324068	114324068	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114324068G>A	uc010tkf.1	+	2	874	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	256	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)															---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114531690	114531690	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114531690G>T	uc001vud.2	-						GAS6_uc001vug.2_Intron|GAS6_uc001vuf.2_Intron	NM_000820	NP_000811			growth arrest-specific 6 isoform 1 precursor						cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114537624	114537624	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114537624C>T	uc001vud.2	-	8	887	c.734G>A	c.(733-735)GGC>GAC	p.G245D	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	245	EGF-like 4; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)																---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114780792	114780792	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114780792T>C	uc001vui.2	-	14	1429	c.1298A>G	c.(1297-1299)TAT>TGT	p.Y433C	RASA3_uc010tkk.1_Missense_Mutation_p.Y401C|RASA3_uc001vuj.2_Missense_Mutation_p.Y50C	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	433	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115009468	115009468	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115009468A>G	uc001vuk.1	+						CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249085	20249085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20249085A>G	uc010tku.1	+	1	604	c.604A>G	c.(604-606)AGT>GGT	p.S202G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296017	20296017	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296017A>T	uc010tkv.1	+	1	410	c.410A>T	c.(409-411)AAC>ATC	p.N137I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389618	20389618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389618A>G	uc010tkw.1	+	1	853	c.853A>G	c.(853-855)ATT>GTT	p.I285V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612317	20612317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20612317C>T	uc010tla.1	+	1	423	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)														---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20666363	20666363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20666363A>G	uc010tlb.1	+	1	869	c.869A>G	c.(868-870)TAC>TGC	p.Y290C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	290	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20845495	20845495	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20845495A>G	uc001vxe.2	-	41	6072	c.6032T>C	c.(6031-6033)TTC>TCC	p.F2011S	TEP1_uc010ahk.2_Missense_Mutation_p.F1354S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903S|TEP1_uc010tlh.1_Missense_Mutation_p.F349S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2011	WD 10.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846301	20846301	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846301A>C	uc001vxe.2	-	39	5643	c.5603T>G	c.(5602-5604)CTG>CGG	p.L1868R	TEP1_uc010ahk.2_Missense_Mutation_p.L1211R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L1760R|TEP1_uc010tlh.1_Missense_Mutation_p.L206R	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1868	WD 6.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846985	20846985	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20846985G>A	uc001vxe.2	-	37	5320	c.5280C>T	c.(5278-5280)TAC>TAT	p.Y1760Y	TEP1_uc010ahk.2_Silent_p.Y1103Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.Y1652Y|TEP1_uc010tlh.1_Silent_p.Y98Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1760	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20850794	20850794	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20850794C>T	uc001vxe.2	-	28	4168	c.4128G>A	c.(4126-4128)ACG>ACA	p.T1376T	TEP1_uc010ahk.2_Silent_p.T719T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1268T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1376	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20859807	20859807	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20859807A>G	uc001vxe.2	-	13	2088	c.2048T>C	c.(2047-2049)CTG>CCG	p.L683P	TEP1_uc010ahk.2_Missense_Mutation_p.L33P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L575P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	683					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
APEX1	328	broad.mit.edu	37	14	20924885	20924885	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20924885A>T	uc001vxg.2	+	4	637	c.305A>T	c.(304-306)AAC>ATC	p.N102I	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Missense_Mutation_p.N102I|APEX1_uc001vxi.2_Missense_Mutation_p.N102I|APEX1_uc001vxj.2_Missense_Mutation_p.N102I	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	102					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)								Direct_reversal_of_damage|Other_BER_factors					---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360111	21360111	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21360111G>A	uc001vyj.2	+	2	320	c.266G>A	c.(265-267)TGC>TAC	p.C89Y		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	89					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)													---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679995	21679995	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21679995A>T	uc001vzy.2	-	7	894	c.650T>A	c.(649-651)ATT>AAT	p.I217N	HNRNPC_uc001vzw.2_Missense_Mutation_p.I204N|HNRNPC_uc001wad.2_Missense_Mutation_p.I137N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.I204N|HNRNPC_uc001waa.2_Missense_Mutation_p.I217N|HNRNPC_uc010ail.2_Missense_Mutation_p.I217N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.I204N|HNRNPC_uc001wac.2_Missense_Mutation_p.I161N|HNRNPC_uc010tlr.1_Missense_Mutation_p.I82N|HNRNPC_uc001waf.2_Missense_Mutation_p.I204N|HNRNPC_uc001wae.2_Missense_Mutation_p.I204N	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	217	Asp/Glu-rich (acidic).			I -> M (in Ref. 1 and 2).		catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860770	21860770	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21860770A>G	uc001was.1	-	34	5924	c.5830T>C	c.(5830-5832)TCC>CCC	p.S1944P	CHD8_uc001war.1_Missense_Mutation_p.S1840P|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2223					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21961062T>A	uc001waz.2	+	7	1390	c.1287T>A	c.(1285-1287)GCT>GCA	p.A429A	TOX4_uc001way.2_Silent_p.A299A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.A406A|TOX4_uc010tlv.1_Silent_p.A299A	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	429	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)														---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971372	21971372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21971372G>A	uc001wbc.2	-	3	759	c.667C>T	c.(667-669)CTG>TTG	p.L223L	METTL3_uc001wbb.2_Silent_p.L68L|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Silent_p.L223L|METTL3_uc001wbd.1_Silent_p.L223L	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	223					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22111776	22111776	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22111776A>T	uc001wbk.3	+	2	380	c.347A>T	c.(346-348)GAC>GTC	p.D116V						SubName: Full=Putative uncharacterized protein ENSP00000374930;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22192552	22192552	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22192552C>A	uc001wbn.2	+	2		c.455C>A								Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22204524	22204524	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22204524C>T	uc010aio.1	+	1		c.73C>T			uc001wbp.2_Silent_p.I8I|uc010aip.1_Silent_p.I8I					Homo sapiens mRNA for T cell receptor alpha variable 4, partial cds, clone: SEB 72.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22279669	22279669	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22279669T>A	uc010tmf.1	+						uc001wbv.2_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000374943;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315173	22315173	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315173G>A	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Silent_p.P18P|uc001wbz.1_Silent_p.P37P					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22315190	22315190	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22315190A>G	uc010tmf.1	+						uc001wbw.2_Intron|uc010tmg.1_Intron|uc001wby.2_Intron|uc010ait.1_Missense_Mutation_p.N24S|uc001wbz.1_Missense_Mutation_p.N43S					SubName: Full=Putative uncharacterized protein ENSP00000374943;																												OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22434047	22434047	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22434047A>C	uc001wbw.2	+						uc010tmg.1_Missense_Mutation_p.S34R|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Missense_Mutation_p.S34R					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22446920	22446920	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22446920T>G	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_5'Flank|uc010tml.1_RNA|uc010tmm.1_Missense_Mutation_p.M1R|uc010tmn.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																												OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22466369	22466369	+	Intron	SNP	G	A	A	rs138258262	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22466369G>A	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Missense_Mutation_p.R100Q|uc001wcp.2_Missense_Mutation_p.R100Q|uc001wcr.1_Missense_Mutation_p.R60Q|uc001wcs.1_Missense_Mutation_p.R60Q|uc010ajf.1_Missense_Mutation_p.R60Q|uc001wcq.2_Missense_Mutation_p.R100Q|uc010ajd.1_Missense_Mutation_p.R100Q					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22564661	22564661	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22564661G>A	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc010tmp.1_RNA|uc001wda.1_RNA					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22600556	22600556	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22600556A>G	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc010tmq.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22670518	22670518	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22670518T>C	uc001wbw.2	+						uc010aiv.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Splice_Site_p.G14_splice|uc010ajm.1_Splice_Site					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22783351	22783351	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22783351A>G	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	23002485	23002485	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23002485G>A	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wde.1_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfp.2_Intron|uc001wfq.1_Intron|uc001wfr.1_Intron|uc010ajz.1_Intron|uc001wfs.1_Intron|uc001wft.1_Intron|uc001wfu.2_Intron|uc001wfv.1_Intron|uc001wfw.1_Intron|uc001wfx.2_Intron|uc001wfy.1_Intron|uc001wfz.1_Intron|uc001wgb.2_RNA|uc001wgc.2_Intron|uc001wgd.2_Intron|uc001wge.3_5'UTR|uc001wgf.2_5'Flank|uc010tmw.1_5'Flank|uc010tmx.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23239726	23239726	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23239726G>A	uc001wgn.2	+	6	906	c.906G>A	c.(904-906)GTG>GTA	p.V302V	OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.V302V|OXA1L_uc001wgp.2_Silent_p.V226V|OXA1L_uc001wgq.2_Silent_p.V6V	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	242	Mitochondrial matrix (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)														---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23467914	23467914	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23467914T>C	uc001wib.1	-	2	629	c.319A>G	c.(319-321)ATC>GTC	p.I107V	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.I107V|C14orf93_uc001wig.2_Missense_Mutation_p.I107V|C14orf93_uc001wih.2_Missense_Mutation_p.I107V|C14orf93_uc001wie.2_Missense_Mutation_p.I107V|C14orf93_uc001wia.3_Missense_Mutation_p.I107V|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	107						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)														---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23530297	23530297	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23530297C>A	uc001wit.3	-	18	4023	c.3695G>T	c.(3694-3696)AGC>ATC	p.S1232I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.S474I|ACIN1_uc001wiq.3_Missense_Mutation_p.S474I|ACIN1_uc001wir.3_Missense_Mutation_p.S505I|ACIN1_uc001wis.3_Missense_Mutation_p.S913I|ACIN1_uc010akg.2_Missense_Mutation_p.S1219I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1232	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745847	23745847	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23745847C>G	uc001wja.2	-	2	738	c.590G>C	c.(589-591)AGT>ACT	p.S197T	HOMEZ_uc001wjb.2_Missense_Mutation_p.S199T	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746167	23746167	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23746167T>C	uc001wja.2	-	2	418	c.270A>G	c.(268-270)CTA>CTG	p.L90L	HOMEZ_uc001wjb.2_Silent_p.L92L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	90	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855309	23855309	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23855309C>T	uc001wjv.2	-	34	5058	c.4991G>A	c.(4990-4992)CGT>CAT	p.R1664H		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1664	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23858074	23858074	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23858074T>C	uc001wjv.2	-	29	4236	c.4169A>G	c.(4168-4170)GAG>GGG	p.E1390G	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1390	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868101	23868101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23868101G>A	uc001wjv.2	-	15	1794	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	576	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874991	23874991	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23874991G>A	uc001wjv.2	-						MYH6_uc010akp.1_Intron	NM_002471	NP_002462			myosin heavy chain 6						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884255	23884255	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23884255C>T	uc001wjx.2	-	37	5614	c.5508G>A	c.(5506-5508)TCG>TCA	p.S1836S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1836	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24569212	24569212	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24569212C>T	uc001wlt.2	+	7	1156	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R354W|PCK2_uc001wls.2_Missense_Mutation_p.R342W|PCK2_uc010tnw.1_Missense_Mutation_p.R208W|PCK2_uc010ald.2_Missense_Mutation_p.P285L|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R208W|PCK2_uc001wlu.3_Missense_Mutation_p.R208W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	342					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
FITM1	161247	broad.mit.edu	37	14	24600921	24600921	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24600921C>A	uc001wmf.2	+	1	247	c.149C>A	c.(148-150)CCC>CAC	p.P50H		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	50	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24632717	24632717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24632717T>C	uc001wmq.2	+	4	622	c.495T>C	c.(493-495)AAT>AAC	p.N165N	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Silent_p.N63N	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	165					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)														---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24705334	24705334	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24705334G>A	uc001wnr.2	+	5	835	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Silent_p.Q151Q|GMPR2_uc001wnt.2_Intron|GMPR2_uc001wnu.2_Silent_p.Q115Q|GMPR2_uc001wnw.2_Silent_p.Q151Q|GMPR2_uc010all.2_Silent_p.Q123Q|GMPR2_uc001wnx.2_Silent_p.Q169Q|GMPR2_uc010tod.1_Intron|GMPR2_uc010alk.1_Silent_p.Q151Q|GMPR2_uc010toe.1_Silent_p.Q151Q	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	151					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24808444	24808444	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24808444T>A	uc001wpb.2	-	3	458	c.248A>T	c.(247-249)AAC>ATC	p.N83I	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N83I	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	83	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24839280	24839280	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24839280A>T	uc001wpc.2	+	2	997	c.676A>T	c.(676-678)ACC>TCC	p.T226S	NFATC4_uc010tok.1_Missense_Mutation_p.T289S|NFATC4_uc010tol.1_Missense_Mutation_p.T289S|NFATC4_uc010alr.2_Missense_Mutation_p.T289S|NFATC4_uc010als.2_Missense_Mutation_p.T239S|NFATC4_uc010tom.1_Missense_Mutation_p.T239S|NFATC4_uc010ton.1_Missense_Mutation_p.T239S|NFATC4_uc010too.1_Missense_Mutation_p.T239S|NFATC4_uc010alt.2_Missense_Mutation_p.T258S|NFATC4_uc010top.1_Missense_Mutation_p.T258S|NFATC4_uc010toq.1_Missense_Mutation_p.T258S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.T226S|NFATC4_uc010tos.1_Missense_Mutation_p.T156S|NFATC4_uc010tot.1_Missense_Mutation_p.T214S|NFATC4_uc010tou.1_Missense_Mutation_p.T156S|NFATC4_uc010tov.1_Missense_Mutation_p.T214S|NFATC4_uc010tow.1_Missense_Mutation_p.T156S|NFATC4_uc010alv.2_Missense_Mutation_p.T214S|NFATC4_uc010tox.1_Missense_Mutation_p.T156S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	226	SP 1.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043577	25043577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25043577T>C	uc001wpq.2	-	4	505	c.468A>G	c.(466-468)ACA>ACG	p.T156T		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	156	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25044505	25044505	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:25044505C>T	uc001wpq.2	-	2	206	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	57	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)														---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26918159	26918159	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:26918159A>G	uc001wpy.2	-	5	848	c.530T>C	c.(529-531)ATA>ACA	p.I177T	NOVA1_uc001wpz.2_Missense_Mutation_p.I153T|NOVA1_uc001wqa.2_Missense_Mutation_p.I55T	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	180	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)														---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30068262	30068262	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30068262A>G	uc001wqh.2	-	15	2318	c.2137T>C	c.(2137-2139)TTG>CTG	p.L713L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	713	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31050312	31050312	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31050312A>G	uc001wqk.2	+	2	181	c.27A>G	c.(25-27)TCA>TCG	p.S9S	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Intron	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	9					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31071242	31071242	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31071242T>A	uc001wqk.2	+	10	1069	c.915T>A	c.(913-915)AAT>AAA	p.N305K	G2E3_uc010tpe.1_Missense_Mutation_p.N220K|G2E3_uc010tpf.1_Missense_Mutation_p.N259K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	305					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31191743	31191743	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31191743A>G	uc001wqm.1	+	23	1838	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	SCFD1_uc001wqn.1_Missense_Mutation_p.Q538R|SCFD1_uc010tpg.1_Missense_Mutation_p.Q546R|SCFD1_uc010tph.1_Missense_Mutation_p.Q420R|SCFD1_uc010amf.1_Missense_Mutation_p.Q420R|SCFD1_uc010tpi.1_Missense_Mutation_p.Q513R|SCFD1_uc010ame.1_Missense_Mutation_p.R527G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	605					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31554098	31554098	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31554098G>T	uc001wqy.3	+						AP4S1_uc001wqw.3_3'UTR|AP4S1_uc001wqx.3_3'UTR|AP4S1_uc010amh.2_3'UTR|AP4S1_uc001wqz.3_Intron	NM_001128126	NP_001121598			adaptor-related protein complex 4, sigma 1							coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)														---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31856444	31856444	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31856444A>T	uc001wrf.3	-	2	269	c.192T>A	c.(190-192)TGT>TGA	p.C64*	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Nonsense_Mutation_p.C357*	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	351							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32561822	32561822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32561822G>A	uc001wrl.2	+	2	2186	c.1947G>A	c.(1945-1947)TGG>TGA	p.W649*	ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.W649*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	649					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562224	32562224	+	Silent	SNP	C	T	T	rs61737878	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562224C>T	uc001wrl.2	+	2	2588	c.2349C>T	c.(2347-2349)TGC>TGT	p.C783C	ARHGAP5_uc001wrm.2_Silent_p.C783C|ARHGAP5_uc001wrn.2_Silent_p.C783C|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	783					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562668	32562668	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32562668T>C	uc001wrl.2	+	2	3032	c.2793T>C	c.(2791-2793)TTT>TTC	p.F931F	ARHGAP5_uc001wrm.2_Silent_p.F931F|ARHGAP5_uc001wrn.2_Silent_p.F931F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	931					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33290606	33290606	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33290606A>G	uc001wrq.2	+	13	3759	c.3589_splice	c.e13-2	p.E1197_splice		NM_004274	NP_004265			A-kinase anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35264961	35264961	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35264961T>C	uc001wsk.2	-	10	1707	c.1139A>G	c.(1138-1140)AAG>AGG	p.K380R	BAZ1A_uc001wsl.2_Missense_Mutation_p.K380R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	380	Potential.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)														---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35487907	35487907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35487907C>T	uc001wso.2	+	12	1334	c.983C>T	c.(982-984)ACG>ATG	p.T328M	SRP54_uc010tpp.1_Missense_Mutation_p.T279M|SRP54_uc010tpq.1_Missense_Mutation_p.T264M	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	328	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780027	35780027	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780027A>G	uc001wtd.2	+	4	444	c.335A>G	c.(334-336)GAC>GGC	p.D112G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D33G|PSMA6_uc010tpu.1_Missense_Mutation_p.D33G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35780041	35780041	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35780041A>G	uc001wtd.2	+	4	458	c.349A>G	c.(349-351)AGA>GGA	p.R117G	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.R38G|PSMA6_uc010tpu.1_Missense_Mutation_p.R38G	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36143454	36143454	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36143454T>C	uc001wti.2	-	23	3722	c.3331A>G	c.(3331-3333)AAC>GAC	p.N1111D	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1111D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1124D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1158D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1111					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36221254	36221254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36221254T>C	uc001wti.2	-	8	1169	c.778A>G	c.(778-780)AAC>GAC	p.N260D	RALGAPA1_uc001wtj.2_Missense_Mutation_p.N260D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N260D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N260D|RALGAPA1_uc001wtk.1_Missense_Mutation_p.N111D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	260					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36784000	36784000	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36784000A>G	uc001wtm.2	-	3	459	c.371T>C	c.(370-372)CTA>CCA	p.L124P	MBIP_uc001wto.2_Missense_Mutation_p.L124P|MBIP_uc010tpy.1_Missense_Mutation_p.Y9H|MBIP_uc001wtn.2_Missense_Mutation_p.L124P	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	124					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132275	37132275	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132275T>C	uc001wty.3	+	3	895	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	60	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132666	37132666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132666G>A	uc001wty.3	+	3	1286	c.569G>A	c.(568-570)CGC>CAC	p.R190H	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	190					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37180557	37180557	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37180557T>C	uc001wtz.1	-	7	879	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	190	Solcar 2.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37194876	37194876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37194876C>T	uc001wtz.1	-	6	647	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	113	Solcar 2.|Helical; Name=3; (Potential).				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37892127	37892127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37892127A>G	uc001wuc.2	+	12	1507	c.1004A>G	c.(1003-1005)GAA>GGA	p.E335G	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E304G|MIPOL1_uc001wud.2_Missense_Mutation_p.E335G|MIPOL1_uc010ams.2_Missense_Mutation_p.E335G|MIPOL1_uc001wue.2_Missense_Mutation_p.E304G|MIPOL1_uc010amt.2_Missense_Mutation_p.E154G	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	335	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969207	37969207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37969207A>G	uc001wuc.2	+	13	1629	c.1126A>G	c.(1126-1128)ATT>GTT	p.I376V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.I345V|MIPOL1_uc001wud.2_Missense_Mutation_p.I376V|MIPOL1_uc010ams.2_Missense_Mutation_p.I376V|MIPOL1_uc001wue.2_Missense_Mutation_p.I345V|MIPOL1_uc010amt.2_Missense_Mutation_p.I195V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	376	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38265994	38265994	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38265994C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.L21F|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.L21F					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38295401	38295401	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38295401C>T	uc001wug.2	+						uc001wuh.2_Missense_Mutation_p.A292V|uc001wui.2_RNA|uc001wuj.2_Missense_Mutation_p.A389V					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	38296418	38296418	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38296418A>G	uc001wug.2	+						uc001wuh.2_Silent_p.E348E|uc001wui.2_RNA|uc001wuj.2_Silent_p.E445E					Homo sapiens chromosome 14 open reading frame 25, mRNA (cDNA clone IMAGE:5268731), partial cds.																														---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724773	38724773	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38724773A>T	uc001wum.1	-	1	802	c.455T>A	c.(454-456)GTC>GAC	p.V152D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	152	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)														---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39562382	39562382	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39562382T>C	uc001wup.1	-						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Intron|SEC23A_uc010tqc.1_5'Flank	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39771359	39771359	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39771359G>A	uc001wvg.3	+	10	1158	c.822G>A	c.(820-822)ATG>ATA	p.M274I	CTAGE5_uc010tqe.1_Missense_Mutation_p.M236I|CTAGE5_uc001wuz.3_Missense_Mutation_p.M262I|CTAGE5_uc001wuy.3_Missense_Mutation_p.M194I|CTAGE5_uc001wvb.3_Missense_Mutation_p.M245I|CTAGE5_uc001wvc.3_Missense_Mutation_p.M219I|CTAGE5_uc001wva.3_Missense_Mutation_p.M245I|CTAGE5_uc001wve.1_Missense_Mutation_p.M250I|CTAGE5_uc001wvh.3_Missense_Mutation_p.M274I|CTAGE5_uc001wvf.3_Missense_Mutation_p.M199I|CTAGE5_uc001wvi.3_Missense_Mutation_p.M279I|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.M245I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	274							enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)														---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39871660	39871660	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39871660T>G	uc001wvk.2	-	2	993	c.655A>C	c.(655-657)AGT>CGT	p.S219R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	219											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975832	44975832	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975832T>C	uc001wvn.2	-	1	668	c.359A>G	c.(358-360)AAC>AGC	p.N120S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	120						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44976056	44976056	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44976056G>T	uc001wvn.2	-	1	444	c.135C>A	c.(133-135)GCC>GCA	p.A45A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	45						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45398323	45398323	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45398323T>C	uc001wvq.2	-	5	1870	c.1624A>G	c.(1624-1626)ACA>GCA	p.T542A	KLHL28_uc001wvr.2_Missense_Mutation_p.T542A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	542	Kelch 6.									ovary(1)	1																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45432481	45432481	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45432481G>A	uc001wvv.2	+	1	1066	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R286Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R286Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R286Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	286							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45433203	45433203	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45433203C>T	uc001wvv.2	+	1	1788	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	FAM179B_uc001wvw.2_Missense_Mutation_p.R527C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R527C|FAM179B_uc001wvu.2_Missense_Mutation_p.R527C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	527	HEAT 4.						binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645393	45645393	+	Missense_Mutation	SNP	G	A	A	rs142077813		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645393G>A	uc001wwd.3	+	14	3535	c.3436G>A	c.(3436-3438)GAT>AAT	p.D1146N	FANCM_uc010anf.2_Missense_Mutation_p.D1120N|FANCM_uc001wwe.3_Missense_Mutation_p.D682N|FANCM_uc010ang.2_Missense_Mutation_p.D360N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1146					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45658140	45658140	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45658140A>G	uc001wwd.3	+	20	5014	c.4915A>G	c.(4915-4917)AAA>GAA	p.K1639E	FANCM_uc010anf.2_Missense_Mutation_p.K1613E|FANCM_uc001wwe.3_Missense_Mutation_p.K1175E|FANCM_uc010ang.2_Missense_Mutation_p.K853E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1639					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665602	45665602	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665602C>A	uc001wwd.3	+	21	5667	c.5568C>A	c.(5566-5568)ATC>ATA	p.I1856I	FANCM_uc010anf.2_Silent_p.I1830I|FANCM_uc001wwe.3_Silent_p.I1392I|FANCM_uc010ang.2_Silent_p.I1105I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1856	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665650	45665650	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45665650A>G	uc001wwd.3	+	21	5715	c.5616A>G	c.(5614-5616)TTA>TTG	p.L1872L	FANCM_uc010anf.2_Silent_p.L1846L|FANCM_uc001wwe.3_Silent_p.L1408L|FANCM_uc010ang.2_Silent_p.L1121L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1872	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
C14orf106	55320	broad.mit.edu	37	14	45675336	45675336	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45675336A>T	uc001wwf.2	-	15	3649	c.3190T>A	c.(3190-3192)TAT>AAT	p.Y1064N		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1064					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---
C14orf104	55172	broad.mit.edu	37	14	50101028	50101028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50101028G>A	uc001wws.3	-	1	921	c.840C>T	c.(838-840)CCC>CCT	p.P280P	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.P280P	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	280					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)													Kartagener_syndrome				---	---	---	---
SDCCAG1	9147	broad.mit.edu	37	14	50255864	50255864	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50255864C>T	uc001wxc.2	-	28	2963	c.2895G>A	c.(2893-2895)AAG>AAA	p.K965K	SDCCAG1_uc010anj.1_Silent_p.K965K|SDCCAG1_uc001wwz.2_Silent_p.K165K|SDCCAG1_uc001wxa.2_Silent_p.K245K|SDCCAG1_uc010tqi.1_Silent_p.K944K|SDCCAG1_uc001wxe.2_Silent_p.K923K	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	965						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)														---	---	---	---
C14orf183	196913	broad.mit.edu	37	14	50550523	50550523	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50550523G>A	uc010tqk.1	-	5	821	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	274											0																		---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50647365	50647365	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50647365C>A	uc001wxs.3	-	7	992	c.894G>T	c.(892-894)CAG>CAT	p.Q298H	SOS2_uc010tql.1_Missense_Mutation_p.Q298H|SOS2_uc001wxt.2_Translation_Start_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	298	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50904618	50904618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50904618A>G	uc001wya.2	-	24	2137	c.1817T>C	c.(1816-1818)CTA>CCA	p.L606P	MAP4K5_uc001wyb.2_Missense_Mutation_p.L606P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	606	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)																	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51208418	51208418	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51208418T>G	uc001wym.2	-	25	5521	c.5330A>C	c.(5329-5331)AAT>ACT	p.N1777T	NIN_uc001wyi.2_Missense_Mutation_p.N1777T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N1064T|NIN_uc010tqp.1_Missense_Mutation_p.N1783T|NIN_uc001wyo.2_Missense_Mutation_p.N1777T|NIN_uc001wyn.2_5'Flank	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1777	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51210974	51210974	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51210974C>A	uc001wym.2	-	23	5365	c.5174G>T	c.(5173-5175)AGC>ATC	p.S1725I	NIN_uc001wyi.2_Missense_Mutation_p.S1725I|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.S1012I|NIN_uc010tqp.1_Missense_Mutation_p.S1731I|NIN_uc001wyo.2_Missense_Mutation_p.S1725I	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1725	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
NIN	51199	broad.mit.edu	37	14	51245521	51245521	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51245521T>C	uc001wym.2	-	6	628	c.437A>G	c.(436-438)CAC>CGC	p.H146R	NIN_uc001wyi.2_Missense_Mutation_p.H146R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H146R|NIN_uc010tqp.1_Missense_Mutation_p.H152R|NIN_uc001wyo.2_Missense_Mutation_p.H146R|NIN_uc001wyp.1_Missense_Mutation_p.H108R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	146					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51352376	51352376	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51352376A>G	uc001wys.2	+	6	546	c.531A>G	c.(529-531)AGA>AGG	p.R177R	ABHD12B_uc001wyq.2_Silent_p.R70R|ABHD12B_uc001wyr.2_Silent_p.R100R|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	177							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)																	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52194524	52194524	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52194524G>A	uc001wzd.2	+	14	1931	c.1646G>A	c.(1645-1647)AGA>AAA	p.R549K	FRMD6_uc001wzb.2_Missense_Mutation_p.R541K|FRMD6_uc001wzc.2_Missense_Mutation_p.R541K|FRMD6_uc001wze.2_Missense_Mutation_p.R472K|FRMD6_uc001wzf.2_Missense_Mutation_p.R242K|FRMD6_uc001wzg.2_Missense_Mutation_p.R191K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	549						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52495506	52495506	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52495506G>A	uc001wzo.2	-	11	2698	c.2464C>T	c.(2464-2466)CCT>TCT	p.P822S	NID2_uc010tqs.1_Missense_Mutation_p.P822S|NID2_uc010tqt.1_Missense_Mutation_p.P822S|NID2_uc001wzp.2_Missense_Mutation_p.P822S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	822	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534616	52534616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52534616G>A	uc001wzo.2	-	2	728	c.494C>T	c.(493-495)GCT>GTT	p.A165V	NID2_uc010tqs.1_Missense_Mutation_p.A165V|NID2_uc010tqt.1_Missense_Mutation_p.A165V|NID2_uc001wzp.2_Missense_Mutation_p.A165V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	165	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52535718	52535718	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52535718C>T	uc001wzo.2	-	1					NID2_uc010tqs.1_5'UTR|NID2_uc010tqt.1_5'UTR|NID2_uc001wzp.2_5'UTR	NM_007361	NP_031387			nidogen 2 precursor							basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52949652	52949652	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52949652A>G	uc001wzs.2	-	13	1589	c.1140T>C	c.(1138-1140)GTT>GTC	p.V380V	TXNDC16_uc010tqu.1_Silent_p.V375V|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	380					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52981596	52981596	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52981596A>G	uc001wzs.2	-	8	1054	c.605_splice	c.e8+1	p.G202_splice	TXNDC16_uc010tqu.1_Splice_Site_p.G197_splice|TXNDC16_uc010aoe.2_Splice_Site	NM_020784	NP_065835			thioredoxin domain containing 16 isoform 1						cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53226484	53226484	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53226484T>C	uc010tqy.1	+						STYX_uc001xaa.2_Intron	NM_001130701	NP_001124173			serine/threonine/tyrosine interacting protein						protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)																	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53570477	53570477	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53570477A>T	uc001xai.2	-	2	1166	c.936T>A	c.(934-936)CAT>CAA	p.H312Q	DDHD1_uc001xaj.2_Missense_Mutation_p.H312Q|DDHD1_uc001xah.2_Missense_Mutation_p.H312Q	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	312					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)																	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54418876	54418876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54418876C>T	uc001xal.3	-	2	252	c.65G>A	c.(64-66)AGC>AAC	p.S22N	BMP4_uc010aoh.2_Missense_Mutation_p.S22N|BMP4_uc001xao.3_Missense_Mutation_p.S22N|BMP4_uc001xan.3_Missense_Mutation_p.S22N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	22					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510474	55510474	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510474A>G	uc001xbo.2	+	3	1280	c.715A>G	c.(715-717)ACA>GCA	p.T239A	SOCS4_uc001xbp.2_Missense_Mutation_p.T239A	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	239					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510709	55510709	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510709A>G	uc001xbo.2	+	3	1515	c.950A>G	c.(949-951)GAC>GGC	p.D317G	SOCS4_uc001xbp.2_Missense_Mutation_p.D317G	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	317	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
LGALS3	3958	broad.mit.edu	37	14	55609411	55609411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55609411T>C	uc001xbr.2	+	5	692	c.541T>C	c.(541-543)TGG>CGG	p.W181R		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	181	Beta-galactoside binding (By similarity).|Galectin.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0																		---	---	---	---
TBPL2	387332	broad.mit.edu	37	14	55907245	55907245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55907245G>A	uc001xby.2	-	1	19	c.19C>T	c.(19-21)CCG>TCG	p.P7S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0																		---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57070532	57070532	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57070532G>A	uc001xcm.2	+	4	467	c.345_splice	c.e4-1	p.R115_splice	C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xck.2_Splice_Site_p.R115_splice|C14orf101_uc010aot.1_Splice_Site_p.R115_splice|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269			hypothetical protein LOC54916							integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57088287	57088287	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57088287T>C	uc001xcm.2	+	11	1387	c.1265T>C	c.(1264-1266)TTC>TCC	p.F422S	C14orf101_uc001xcj.2_Intron|C14orf101_uc001xcl.1_Intron|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron|C14orf101_uc001xco.2_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	422						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
OTX2	5015	broad.mit.edu	37	14	57271037	57271037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57271037G>A	uc001xcp.2	-	2	289	c.118C>T	c.(118-120)CGG>TGG	p.R40W	OTX2_uc010aou.2_Missense_Mutation_p.R40W|OTX2_uc001xcq.2_Missense_Mutation_p.R48W	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	40	Homeobox.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)																	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57713439	57713439	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57713439T>C	uc001xct.2	-	3	511	c.260A>G	c.(259-261)AAA>AGA	p.K87R	EXOC5_uc010trg.1_Missense_Mutation_p.K32R|EXOC5_uc010trh.1_Missense_Mutation_p.K87R	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	87	Potential.				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57876098	57876098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57876098T>C	uc001xcx.3	+	5	1107	c.953T>C	c.(952-954)GTT>GCT	p.V318A	NAA30_uc010trk.1_Missense_Mutation_p.V60A|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	318	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1																		---	---	---	---
SLC35F4	341880	broad.mit.edu	37	14	58038710	58038710	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58038710C>T	uc001xdb.1	-	5	943	c.943G>A	c.(943-945)GGC>AGC	p.G315S	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.G156S	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2																		---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58701258	58701258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58701258A>G	uc001xdf.2	+	13	1346	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.T217A|ACTR10_uc001xdh.2_Missense_Mutation_p.T217A|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.T205A	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	415						cytoplasm				central_nervous_system(1)	1																		---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58917322	58917322	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58917322G>T	uc001xdv.3	+	8	1260	c.987G>T	c.(985-987)ACG>ACT	p.T329T	KIAA0586_uc010trr.1_Silent_p.T370T|KIAA0586_uc001xdt.3_Silent_p.T285T|KIAA0586_uc001xdu.3_Silent_p.T314T|KIAA0586_uc010trs.1_Silent_p.T244T|KIAA0586_uc010trt.1_Silent_p.T189T|KIAA0586_uc010tru.1_Silent_p.T189T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	329										ovary(1)	1																		---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112846	59112846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59112846T>C	uc001xdw.2	+	4	1669	c.1505T>C	c.(1504-1506)GTT>GCT	p.V502A	DACT1_uc010trv.1_Missense_Mutation_p.V221A|DACT1_uc001xdx.2_Missense_Mutation_p.V465A|DACT1_uc010trw.1_Missense_Mutation_p.V221A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	502					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5																		---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60097159	60097159	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60097159A>T	uc001xen.1	-						RTN1_uc001xem.1_Intron|RTN1_uc001xek.1_Intron|RTN1_uc001xel.1_Intron|RTN1_uc010apl.1_Intron	NM_021136	NP_066959			reticulon 1 isoform A						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60574744	60574744	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60574744C>A	uc001xer.3	+						C14orf135_uc001xeq.2_Intron	NM_022495	NP_071940			hepatitis C virus F protein-binding protein 2							integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60581930	60581930	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60581930A>G	uc001xer.3	+	3	928	c.406A>G	c.(406-408)ACT>GCT	p.T136A	C14orf135_uc001xeq.2_Missense_Mutation_p.T136A	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	370	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60585237	60585237	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60585237T>C	uc001xer.3	+	6	1589	c.1067T>C	c.(1066-1068)TTA>TCA	p.L356S	C14orf135_uc001xeq.2_Missense_Mutation_p.L356S|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	590						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60903672	60903672	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60903672T>G	uc001xez.3	-	18	1765	c.1655A>C	c.(1654-1656)GAT>GCT	p.D552A	C14orf39_uc010apo.2_Missense_Mutation_p.D263A	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	552										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)														---	---	---	---
SIX6	4990	broad.mit.edu	37	14	60976477	60976477	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60976477C>T	uc001xfa.3	+	1	540	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	121					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)														---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115821	61115821	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61115821G>A	uc001xfb.3	-	1	335	c.87C>T	c.(85-87)CGC>CGT	p.R29R		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	29					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)														---	---	---	---
MNAT1	4331	broad.mit.edu	37	14	61346478	61346478	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61346478T>C	uc001xfd.2	+	7	845	c.734T>C	c.(733-735)CTG>CCG	p.L245P	MNAT1_uc001xfe.2_Missense_Mutation_p.L203P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	245					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)									Direct_reversal_of_damage|NER					---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61442854	61442854	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61442854G>A	uc001xff.3	-							NM_020810	NP_065861			tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)														---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61995940	61995940	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61995940A>G	uc001xfn.2	+						PRKCH_uc010tsa.1_Intron|PRKCH_uc010tsb.1_Intron	NM_006255	NP_006246			protein kinase C, eta						intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62261657	62261657	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62261657A>T	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63842769	63842769	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63842769C>T	uc001xgd.1	-	14	1952	c.1362G>A	c.(1360-1362)GAG>GAA	p.E454E	PPP2R5E_uc010tsf.1_Silent_p.E378E|PPP2R5E_uc010tsg.1_Silent_p.E378E|PPP2R5E_uc001xge.2_Silent_p.E454E|PPP2R5E_uc010tsh.1_Silent_p.E449E	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	454					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63881929	63881929	+	Nonsense_Mutation	SNP	G	A	A	rs10133826	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63881929G>A	uc001xgd.1	-	5	1068	c.478C>T	c.(478-480)CGA>TGA	p.R160*	PPP2R5E_uc010tsf.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc010tsg.1_Nonsense_Mutation_p.R84*|PPP2R5E_uc001xge.2_Nonsense_Mutation_p.R160*|PPP2R5E_uc010tsh.1_Nonsense_Mutation_p.R160*|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	160					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64608200	64608200	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64608200C>T	uc001xgm.2	+	81	15348	c.15118C>T	c.(15118-15120)CTC>TTC	p.L5040F	SYNE2_uc001xgl.2_Missense_Mutation_p.L5040F|SYNE2_uc010apy.2_Missense_Mutation_p.L1425F|SYNE2_uc001xgn.2_Missense_Mutation_p.L2F|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5040	Spectrin 1.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64676135	64676135	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64676135G>A	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'UTR	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64902392	64902392	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64902392A>G	uc001xhb.2	+						MTHFD1_uc010aqe.2_Intron|MTHFD1_uc010aqf.2_Intron	NM_005956	NP_005947			methylenetetrahydrofolate dehydrogenase 1						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
AKAP5	9495	broad.mit.edu	37	14	64936006	64936006	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64936006G>A	uc001xhd.3	+	2	1272	c.894G>A	c.(892-894)GAG>GAA	p.E298E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	298					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)														---	---	---	---
GPX2	2877	broad.mit.edu	37	14	65406199	65406199	+	3'UTR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65406199T>A	uc010tsn.1	-	3					CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074			glutathione peroxidase 2						response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)													---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65521297	65521297	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65521297C>T	uc001xia.2	+	11	1237	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C	FNTB_uc010tsl.1_Missense_Mutation_p.R392C|FNTB_uc010tsm.1_Missense_Mutation_p.R312C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.R114C|FNTB_uc010tso.1_Missense_Mutation_p.R273C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	358	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67589003	67589003	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67589003G>T	uc001xiy.2	+	16	2679	c.1558G>T	c.(1558-1560)GGG>TGG	p.G520W	GPHN_uc001xix.2_Missense_Mutation_p.G553W|GPHN_uc010tss.1_Missense_Mutation_p.G566W|GPHN_uc010tst.1_Missense_Mutation_p.G489W|GPHN_uc010tsu.1_Missense_Mutation_p.G443W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	520	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67626205	67626205	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67626205G>T	uc001xiy.2	+	18	2932	c.1811G>T	c.(1810-1812)GGC>GTC	p.G604V	GPHN_uc001xix.2_Missense_Mutation_p.G637V|GPHN_uc010tss.1_Missense_Mutation_p.G650V|GPHN_uc010tst.1_Missense_Mutation_p.G573V|GPHN_uc010tsu.1_Missense_Mutation_p.G527V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	604	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787971	67787971	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67787971A>G	uc001xjc.2	+	13	2201	c.1735A>G	c.(1735-1737)ACA>GCA	p.T579A	MPP5_uc001xjd.2_Missense_Mutation_p.T545A|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	579	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)														---	---	---	---
PLEK2	26499	broad.mit.edu	37	14	67859098	67859098	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67859098A>G	uc001xjh.1	-	6	768	c.716T>C	c.(715-717)CTG>CCG	p.L239P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	239					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)														---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68044777	68044777	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68044777C>T	uc001xjl.1	+	19	2754	c.2612C>T	c.(2611-2613)GCC>GTC	p.A871V	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A439V|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A386V|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	871	MyTH4.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
GALNTL1	57452	broad.mit.edu	37	14	69795187	69795187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69795187C>T	uc010aqu.1	+	6	682	c.589C>T	c.(589-591)CGT>TGT	p.R197C	GALNTL1_uc001xla.1_Missense_Mutation_p.R197C|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)														---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70263858	70263858	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70263858G>A	uc001xlr.2	-	1	149	c.15C>T	c.(13-15)AAC>AAT	p.N5N		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	5					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)														---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70517823	70517823	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70517823G>A	uc001xly.2	-	6	2787	c.2033C>T	c.(2032-2034)ACT>ATT	p.T678I	SLC8A3_uc001xlu.2_Missense_Mutation_p.T35I|SLC8A3_uc001xlv.2_Missense_Mutation_p.T49I|SLC8A3_uc001xlw.2_Missense_Mutation_p.T675I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T676I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T672I|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.T35I	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	678	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)														---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70924308	70924308	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70924308C>A	uc001xmd.2	+	1	92	c.92C>A	c.(91-93)GCT>GAT	p.A31D		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	31					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)														---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70989594	70989594	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70989594A>G	uc001xme.2	-	2	2276	c.2031T>C	c.(2029-2031)AGT>AGC	p.S677S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	627	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71429014	71429014	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71429014G>T	uc001xmo.2	+	3	880	c.434G>T	c.(433-435)AGA>ATA	p.R145I	PCNX_uc001xmn.3_Missense_Mutation_p.R145I|PCNX_uc010are.1_Missense_Mutation_p.R145I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	145						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71435739	71435739	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71435739A>G	uc001xmo.2	+	5	962	c.516A>G	c.(514-516)GGA>GGG	p.G172G	PCNX_uc001xmn.3_Silent_p.G172G|PCNX_uc010are.1_Silent_p.G172G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	172						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444774	71444774	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71444774T>C	uc001xmo.2	+	6	2166	c.1720T>C	c.(1720-1722)TCA>CCA	p.S574P	PCNX_uc001xmn.3_Missense_Mutation_p.S574P|PCNX_uc010are.1_Missense_Mutation_p.S574P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	574						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71571997	71571997	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71571997T>C	uc001xmo.2	+	33	6587	c.6141T>C	c.(6139-6141)ATT>ATC	p.I2047I	PCNX_uc010are.1_Silent_p.I1936I|PCNX_uc010arf.1_Silent_p.I835I|PCNX_uc001xmp.2_Silent_p.I131I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2047						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72055054	72055054	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72055054G>T	uc001xms.2	+	2	813	c.465G>T	c.(463-465)ATG>ATT	p.M155I	SIPA1L1_uc001xmt.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.M155I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.M155I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	155					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72152235	72152235	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72152235T>A	uc001xms.2	+	10	3609	c.3261T>A	c.(3259-3261)AGT>AGA	p.S1087R	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1087R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1087R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S562R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1087					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72936781	72936781	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72936781G>T	uc001xna.3	+	8	1049	c.526G>T	c.(526-528)GCA>TCA	p.A176S	RGS6_uc010ttn.1_Missense_Mutation_p.A176S|RGS6_uc001xmx.3_Missense_Mutation_p.A176S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.A176S|RGS6_uc010ttp.1_Missense_Mutation_p.A107S|RGS6_uc001xmz.1_Missense_Mutation_p.A37S|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	176					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)														---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73181139	73181139	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73181139A>G	uc001xnc.2	-	6	609	c.596T>C	c.(595-597)GTC>GCC	p.V199A	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V199A|DPF3_uc010ttq.1_Missense_Mutation_p.V209A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	199	C2H2-type.				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73750839	73750839	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73750839T>C	uc001xny.1	-	10	1219	c.899A>G	c.(898-900)GAG>GGG	p.E300G	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.E300G|NUMB_uc001xnz.1_Missense_Mutation_p.E289G|NUMB_uc001xob.1_Missense_Mutation_p.E289G|NUMB_uc001xod.1_Missense_Mutation_p.E300G|NUMB_uc001xoc.1_Missense_Mutation_p.E300G|NUMB_uc010ars.1_Missense_Mutation_p.E289G|NUMB_uc001xof.1_Missense_Mutation_p.E264G|NUMB_uc010ttz.1_Missense_Mutation_p.E46G	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	300					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73945354	73945354	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73945354G>T	uc010tua.1	-	18	3307	c.2897C>A	c.(2896-2898)CCC>CAC	p.P966H	uc001xoi.1_RNA	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	74008409	74008409	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74008409T>A	uc010tua.1	-						ACOT1_uc001xol.1_Intron|ACOT1_uc010tuc.1_Intron	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74040291	74040291	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74040291C>T	uc001xon.3	+	2	1016	c.843C>T	c.(841-843)CCC>CCT	p.P281P	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Silent_p.P84P	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74128725	74128725	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74128725T>A	uc001xoq.3	+	4	353	c.188T>A	c.(187-189)ATT>AAT	p.I63N	DNAL1_uc010aru.2_Missense_Mutation_p.I24N|DNAL1_uc010arv.2_RNA	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	63	LRR 1.										0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74205679	74205679	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74205679G>A	uc001xot.2	-	2	1816	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	C14orf43_uc001xou.2_Missense_Mutation_p.R345C|C14orf43_uc010tud.1_Missense_Mutation_p.R345C|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206622	74206622	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206622A>G	uc001xot.2	-	2	873	c.90T>C	c.(88-90)CCT>CCC	p.P30P	C14orf43_uc001xou.2_Silent_p.P30P|C14orf43_uc010tud.1_Silent_p.P30P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
C14orf43	91748	broad.mit.edu	37	14	74206623	74206623	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74206623G>A	uc001xot.2	-	2	872	c.89C>T	c.(88-90)CCT>CTT	p.P30L	C14orf43_uc001xou.2_Missense_Mutation_p.P30L|C14orf43_uc010tud.1_Missense_Mutation_p.P30L|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)														---	---	---	---
COQ6	51004	broad.mit.edu	37	14	74416672	74416672	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74416672T>C	uc001xph.2	+						FAM161B_uc001xpd.1_Intron|COQ6_uc001xpe.2_5'UTR|COQ6_uc001xpf.2_5'UTR|COQ6_uc010tuk.1_5'UTR|COQ6_uc010tul.1_5'Flank|COQ6_uc010tum.1_5'Flank|COQ6_uc010tun.1_5'Flank|COQ6_uc001xpg.2_5'Flank	NM_182476	NP_872282			coenzyme Q6 homolog isoform a						ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)														---	---	---	---
ALDH6A1	4329	broad.mit.edu	37	14	74534085	74534085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74534085G>A	uc001xpo.2	-	8	1139	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.A192V|ALDH6A1_uc010tuq.1_Missense_Mutation_p.A334V	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	347						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)													---	---	---	---
ABCD4	5826	broad.mit.edu	37	14	74758990	74758990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74758990G>A	uc001xpr.2	-	11	1270	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	ABCD4_uc001xps.2_Missense_Mutation_p.T214I|ABCD4_uc001xpt.2_Missense_Mutation_p.T214I|ABCD4_uc010tur.1_Missense_Mutation_p.T269I|ABCD4_uc001xpu.2_Missense_Mutation_p.T110I|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	373						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)														---	---	---	---
C14orf115	55237	broad.mit.edu	37	14	74824569	74824569	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74824569G>A	uc001xpw.3	+	2	1274	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	361					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)														---	---	---	---
TMEM90A	646658	broad.mit.edu	37	14	74874616	74874616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74874616G>A	uc001xpx.2	-	3	742	c.494C>T	c.(493-495)ACT>ATT	p.T165I		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	165	Helical; (Potential).				response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74975558	74975558	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74975558C>T	uc001xqa.2	-	23	3888	c.3501G>A	c.(3499-3501)CAG>CAA	p.Q1167Q		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1167	EGF-like 11; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75019682	75019682	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75019682A>G	uc001xqa.2	-	5	1492	c.1105T>C	c.(1105-1107)TGT>CGT	p.C369R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	369					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75078162	75078162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75078162C>T	uc001xqa.2	-	1	873	c.486G>A	c.(484-486)CGG>CGA	p.R162R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	162					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75264547	75264547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75264547G>A	uc001xqj.3	+	5	2671	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---
PGF	5228	broad.mit.edu	37	14	75413078	75413078	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75413078T>C	uc001xqz.2	-						PGF_uc001xra.2_Intron|PGF_uc001xrb.2_Intron	NM_002632	NP_002623			placental growth factor, vascular endothelial						angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00668)												OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513923	75513923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75513923A>G	uc001xrd.1	-	2	2652	c.2436T>C	c.(2434-2436)AGT>AGC	p.S812S	MLH3_uc001xre.1_Silent_p.S812S|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	812					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76107378	76107378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76107378C>T	uc001xrs.2	+	7	1692	c.1316C>T	c.(1315-1317)TCC>TTC	p.S439F	FLVCR2_uc010tvd.1_Missense_Mutation_p.S234F	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	439	Helical; (Potential).			S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76429788	76429788	+	Missense_Mutation	SNP	C	T	T	rs142069844		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76429788C>T	uc001xsc.2	-	5	1653	c.797G>A	c.(796-798)CGC>CAC	p.R266H	TGFB3_uc001xsd.2_Missense_Mutation_p.R264H	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	266					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
TGFB3	7043	broad.mit.edu	37	14	76437504	76437504	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76437504A>T	uc001xsc.2	-	3	1467	c.611T>A	c.(610-612)GTC>GAC	p.V204D	TGFB3_uc001xsd.2_Missense_Mutation_p.V202D	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	204					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)														---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77273842	77273842	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77273842G>T	uc001xsv.2	-	4	993	c.880C>A	c.(880-882)CTG>ATG	p.L294M	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	294										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)														---	---	---	---
C14orf4	64207	broad.mit.edu	37	14	77492964	77492964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77492964C>T	uc001xsy.2	-	1	2071	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	391						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)														---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77715740	77715740	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77715740G>T	uc001xtf.2	+	21	2189	c.1977G>T	c.(1975-1977)CAG>CAT	p.Q659H	TMEM63C_uc010asq.1_Missense_Mutation_p.Q659H	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	659	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)														---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77794333	77794333	+	Missense_Mutation	SNP	G	A	A	rs140540096	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77794333G>A	uc001xtj.2	+	5	577	c.295G>A	c.(295-297)GTG>ATG	p.V99M	GSTZ1_uc001xtk.2_Intron|GSTZ1_uc010ass.2_Missense_Mutation_p.V44M|GSTZ1_uc001xtm.2_Missense_Mutation_p.V44M	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	99	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77797487	77797487	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77797487G>T	uc001xtj.2	+	9	882	c.600G>T	c.(598-600)CAG>CAT	p.Q200H	GSTZ1_uc001xtk.2_Missense_Mutation_p.Q158H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q145H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q145H	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	200	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)													---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77942198	77942198	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77942198T>C	uc001xtz.2	-	7	1530	c.1456A>G	c.(1456-1458)ACA>GCA	p.T486A	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.T398A|ISM2_uc010tvl.1_Missense_Mutation_p.T405A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	486	AMOP.					extracellular region				skin(1)	1																		---	---	---	---
ADCK1	57143	broad.mit.edu	37	14	78285417	78285417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78285417T>C	uc001xui.2	+	2	195	c.96T>C	c.(94-96)AAT>AAC	p.N32N	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.N32N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	32						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)														---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80677662	80677662	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80677662G>A	uc010tvq.1	-	2	556	c.154C>T	c.(154-156)CGG>TGG	p.R52W	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52W|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52W|DIO2_uc010tvr.1_Missense_Mutation_p.R52W|DIO2_uc010asy.2_Missense_Mutation_p.R52W	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	52					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)														---	---	---	---
C14orf145	145508	broad.mit.edu	37	14	81259148	81259148	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81259148T>A	uc001xux.2	-	13	1687	c.1516A>T	c.(1516-1518)AAA>TAA	p.K506*	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	506	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81574744	81574744	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81574744A>G	uc001xvd.1	+	8	796	c.640A>G	c.(640-642)ACA>GCA	p.T214A	TSHR_uc001xvb.1_Missense_Mutation_p.T214A|TSHR_uc001xvc.2_Missense_Mutation_p.T214A|TSHR_uc010tvs.1_Missense_Mutation_p.T214A	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	214	Extracellular (Potential).|LRR 5.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81662516	81662516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81662516A>G	uc001xvf.1	-	6	980	c.548T>C	c.(547-549)GTT>GCT	p.V183A	GTF2A1_uc010atb.1_Missense_Mutation_p.V133A|GTF2A1_uc001xvg.1_Missense_Mutation_p.V144A	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	183					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81943446	81943446	+	Missense_Mutation	SNP	G	A	A	rs141918133		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81943446G>A	uc010tvv.1	-	21	2372	c.2255C>T	c.(2254-2256)GCG>GTG	p.A752V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	752	Mediates retention to the endoplasmic reticulum.|Helical; (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81993276	81993276	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81993276G>A	uc010tvv.1	-	3	258	c.141C>T	c.(139-141)GAC>GAT	p.D47D	SEL1L_uc001xvo.3_Silent_p.D47D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	47	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088684	86088684	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088684C>T	uc001xvr.2	+	2	1593	c.826C>T	c.(826-828)CGT>TGT	p.R276C	FLRT2_uc010atd.2_Missense_Mutation_p.R276C	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	276	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089822	86089822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86089822T>C	uc001xvr.2	+	2	2731	c.1964T>C	c.(1963-1965)CTG>CCG	p.L655P	FLRT2_uc010atd.2_Missense_Mutation_p.L655P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	655	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88946074	88946074	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88946074T>G	uc001xwv.3	-	13	2032	c.1701A>C	c.(1699-1701)CCA>CCC	p.P567P	PTPN21_uc010twc.1_Silent_p.P363P	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	567	Poly-Pro.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89123818	89123818	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89123818A>G	uc001xxg.2	-	28	4092	c.3906T>C	c.(3904-3906)AAT>AAC	p.N1302N	EML5_uc001xxf.2_Silent_p.N97N|EML5_uc001xxh.1_Silent_p.N441N	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1302						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89171305	89171305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89171305T>C	uc001xxg.2	-	14	2136	c.1950A>G	c.(1948-1950)CTA>CTG	p.L650L	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	650						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
EML5	161436	broad.mit.edu	37	14	89206880	89206880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89206880G>A	uc001xxg.2	-	6	748	c.562C>T	c.(562-564)CGA>TGA	p.R188*		NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	188						cytoplasm|microtubule				ovary(3)	3																		---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89338740	89338740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89338740G>A	uc010ath.2	+	13	1473	c.1339G>A	c.(1339-1341)GCC>ACC	p.A447T	TTC8_uc001xxl.2_Missense_Mutation_p.A192T|TTC8_uc010ati.2_Missense_Mutation_p.A233T|TTC8_uc001xxm.2_Missense_Mutation_p.A391T|TTC8_uc010atj.2_Missense_Mutation_p.A166T|TTC8_uc001xxi.2_Missense_Mutation_p.A431T|TTC8_uc001xxj.2_Missense_Mutation_p.A421T|TTC8_uc001xxk.2_Missense_Mutation_p.A391T	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	457	TPR 8.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90442125	90442125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90442125G>A	uc001xxy.2	+	7	1056	c.757G>A	c.(757-759)GCA>ACA	p.A253T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A253T|TDP1_uc010atn.2_Missense_Mutation_p.A253T|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A253T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	253					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)									Repair_of_DNA-protein_crosslinks					---	---	---	---
PSMC1	5700	broad.mit.edu	37	14	90734649	90734649	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90734649A>G	uc001xyf.2	+	8	821	c.773A>G	c.(772-774)AAG>AGG	p.K258R	PSMC1_uc001xyg.2_Missense_Mutation_p.K185R|PSMC1_uc001xyh.2_Missense_Mutation_p.K185R|PSMC1_uc010twh.1_Missense_Mutation_p.K185R	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	258					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
C14orf102	55051	broad.mit.edu	37	14	90754929	90754929	+	Silent	SNP	C	T	T	rs142936620	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90754929C>T	uc001xyi.1	-	11	2821	c.2790G>A	c.(2788-2790)GTG>GTA	p.V930V	C14orf102_uc010atp.1_Silent_p.V435V|C14orf102_uc001xyj.1_Silent_p.V699V|C14orf102_uc001xyk.1_Silent_p.V122V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	930							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91211165	91211165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91211165C>T	uc001xyp.2	-	4	669	c.547G>A	c.(547-549)GCA>ACA	p.A183T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	183							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91247091	91247091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91247091C>T	uc001xyp.2	-	3	558	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	146							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91639673	91639673	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91639673C>A	uc001xzb.2	+	8	1250	c.482C>A	c.(481-483)CCT>CAT	p.P161H	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.P166H|C14orf159_uc001xyx.2_Missense_Mutation_p.P161H|C14orf159_uc001xyw.2_Missense_Mutation_p.P166H|C14orf159_uc001xzc.2_Missense_Mutation_p.P161H|C14orf159_uc001xza.2_Missense_Mutation_p.P166H|C14orf159_uc001xyv.2_Missense_Mutation_p.P166H|C14orf159_uc001xyz.2_Missense_Mutation_p.P37H|C14orf159_uc001xze.2_Missense_Mutation_p.P161H	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	161						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)												OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91701388	91701388	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91701388T>A	uc001xzg.2	-	2	348	c.7A>T	c.(7-9)AAC>TAC	p.N3Y	GPR68_uc001xzh.2_Missense_Mutation_p.N13Y	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	3	Extracellular (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91804375	91804375	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91804375C>T	uc010aty.2	-	10	1123	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	342	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)																---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102891	92102891	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92102891G>T	uc001xzs.1	-	17	1760	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)																---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92258726	92258726	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92258726T>C	uc001xzu.3	-	9	1223	c.1032A>G	c.(1030-1032)CCA>CCG	p.P344P	TC2N_uc001xzt.3_Silent_p.P344P|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.P344P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	344						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
FBLN5	10516	broad.mit.edu	37	14	92353637	92353637	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92353637G>A	uc001xzx.3	-	7	1112	c.639C>T	c.(637-639)ACC>ACT	p.T213T	FBLN5_uc010aud.2_Silent_p.T218T|FBLN5_uc010aue.2_Silent_p.T254T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	213	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)																---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471782	92471782	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92471782C>T	uc001xzy.2	-	11	3326	c.2538G>A	c.(2536-2538)CAG>CAA	p.Q846Q	TRIP11_uc010auf.1_Silent_p.Q582Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	846	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
NDUFB1	4707	broad.mit.edu	37	14	92583937	92583937	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92583937A>C	uc001yaf.2	-	2	218	c.186T>G	c.(184-186)GTT>GTG	p.V62V		NM_004545	NP_004536	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	15	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)													---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93043784	93043784	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93043784C>T	uc001yap.2	+	3	481	c.329C>T	c.(328-330)GCC>GTC	p.A110V	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.A35V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154423	93154423	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154423C>T	uc001yap.2	+	10	2936	c.2784C>T	c.(2782-2784)GAC>GAT	p.D928D	RIN3_uc010auk.2_Silent_p.D590D|RIN3_uc001yaq.2_Silent_p.D853D	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	928	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93154499	93154499	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93154499C>T	uc001yap.2	+	10	3012	c.2860C>T	c.(2860-2862)CGC>TGC	p.R954C	RIN3_uc010auk.2_Missense_Mutation_p.R616C|RIN3_uc001yaq.2_Missense_Mutation_p.R879C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	954	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93176081	93176081	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93176081A>G	uc001yav.2	-	12	1282	c.956T>C	c.(955-957)CTG>CCG	p.L319P	LGMN_uc001yat.2_Missense_Mutation_p.L319P|LGMN_uc001yau.2_Missense_Mutation_p.L319P|LGMN_uc001yaw.2_Missense_Mutation_p.L319P|LGMN_uc010aul.2_Missense_Mutation_p.L200P|LGMN_uc001yax.2_Missense_Mutation_p.L319P|LGMN_uc001yay.2_Missense_Mutation_p.L319P	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	319					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93180773	93180773	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93180773A>C	uc001yav.2	-	7	754	c.428T>G	c.(427-429)ATT>AGT	p.I143S	LGMN_uc001yat.2_Missense_Mutation_p.I143S|LGMN_uc001yau.2_Missense_Mutation_p.I143S|LGMN_uc001yaw.2_Missense_Mutation_p.I143S|LGMN_uc010aul.2_Missense_Mutation_p.I24S|LGMN_uc001yax.2_Missense_Mutation_p.I143S|LGMN_uc001yay.2_Missense_Mutation_p.I143S	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	143					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)												OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650419	93650419	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93650419T>C	uc001ybj.2	-	3	539	c.169A>G	c.(169-171)AGG>GGG	p.R57G	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	57					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)														---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761249	93761249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93761249G>A	uc001ybo.2	-	3	443	c.117C>T	c.(115-117)TGC>TGT	p.C39C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Silent_p.C39C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	39										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94069685	94069685	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94069685T>C	uc001ybv.1	+	23	3227	c.3144T>C	c.(3142-3144)CGT>CGC	p.R1048R	KIAA1409_uc001ybs.1_Silent_p.R1048R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1225						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94079437	94079437	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94079437T>C	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94087327	94087327	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94087327A>G	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94420793	94420793	+	Silent	SNP	G	A	A	rs146382240	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94420793G>A	uc001ycc.1	-	2	693	c.204C>T	c.(202-204)GGC>GGT	p.G68G	ASB2_uc001ycd.2_Silent_p.G116G|ASB2_uc001yce.1_Silent_p.G14G	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	68	ANK 1.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)														---	---	---	---
IFI27L1	122509	broad.mit.edu	37	14	94568278	94568278	+	Silent	SNP	C	T	T	rs150611249	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94568278C>T	uc001ycl.2	+	4	388	c.180C>T	c.(178-180)GGC>GGT	p.G60G	IFI27L1_uc001yck.2_Silent_p.G60G	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	60	Helical; (Potential).					integral to membrane					0																		---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94780965	94780965	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94780965G>T	uc001ycv.2	-	2	125	c.21C>A	c.(19-21)ACC>ACA	p.T7T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	7					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)													---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95562437	95562437	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95562437C>T	uc001ydw.2	-	24	5002	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q	DICER1_uc010avh.1_Missense_Mutation_p.R505Q|DICER1_uc001ydv.2_Missense_Mutation_p.R1597Q|DICER1_uc001ydx.2_Missense_Mutation_p.R1607Q|DICER1_uc001ydy.1_Missense_Mutation_p.R459Q	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1607					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95690184	95690184	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95690184T>C	uc001yef.2	-	3	269	c.153A>G	c.(151-153)CCA>CCG	p.P51P		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	51	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)														---	---	---	---
C14orf49	161176	broad.mit.edu	37	14	95923565	95923565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95923565G>A	uc001yei.3	-	4	753	c.738C>T	c.(736-738)TGC>TGT	p.C246C	C14orf49_uc010avi.2_Silent_p.C246C|C14orf49_uc001yej.1_Silent_p.C246C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	246	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	96103091	96103091	+	IGR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96103091A>T								GLRX5 (92036 upstream) : TCL6 (13744 downstream)																																			---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96157234	96157234	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96157234C>T	uc001yez.2	+	2	366	c.324C>T	c.(322-324)GAC>GAT	p.D108D	TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Silent_p.D108D	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	108										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)														---	---	---	---
BDKRB2	624	broad.mit.edu	37	14	96707571	96707571	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96707571C>A	uc010avm.1	+	3	1102	c.906C>A	c.(904-906)TCC>TCA	p.S302S	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.S275S|BDKRB2_uc001yfg.2_Silent_p.S302S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	302	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96761477	96761477	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96761477G>A	uc001yfi.2	-	36	5611	c.5246C>T	c.(5245-5247)ACC>ATC	p.T1749I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1749										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96798831	96798831	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96798831A>G	uc001yfi.2	-							NM_018036	NP_060506			ATG2 autophagy related 2 homolog B											ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	96998729	96998729	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96998729T>C	uc001yfq.2	+	8	879	c.669T>C	c.(667-669)ACT>ACC	p.T223T	PAPOLA_uc001yfp.2_Silent_p.T223T|PAPOLA_uc001yfr.2_Silent_p.T223T|PAPOLA_uc010twv.1_Silent_p.T223T|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	223				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99697807	99697807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99697807C>T	uc001yga.2	-	3	782	c.515G>A	c.(514-516)CGT>CAT	p.R172H	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	172						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)				T	TLX3	T-ALL								---	---	---	---
EML1	2009	broad.mit.edu	37	14	100317246	100317246	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100317246G>T	uc001ygs.2	+	2	193	c.124G>T	c.(124-126)GAG>TAG	p.E42*	EML1_uc010avt.1_Nonsense_Mutation_p.E29*|EML1_uc010tww.1_Nonsense_Mutation_p.E11*|EML1_uc001ygq.2_Nonsense_Mutation_p.E42*|EML1_uc001ygr.2_Nonsense_Mutation_p.E42*	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	42						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100363529	100363529	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100363529C>T	uc001ygs.2	+	7	794	c.725C>T	c.(724-726)CCG>CTG	p.P242L	EML1_uc010avt.1_Missense_Mutation_p.P229L|EML1_uc010tww.1_Missense_Mutation_p.P230L|EML1_uc001ygq.2_Missense_Mutation_p.P261L|EML1_uc001ygr.2_Missense_Mutation_p.P261L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	242						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
EML1	2009	broad.mit.edu	37	14	100406438	100406438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100406438C>T	uc001ygs.2	+	22	2506	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	EML1_uc010tww.1_Missense_Mutation_p.R801C|EML1_uc001ygr.2_Missense_Mutation_p.R832C	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	813	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100950346	100950346	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100950346G>T	uc010avx.2	+	4	1079	c.986G>T	c.(985-987)AGT>ATT	p.S329I	WDR25_uc001yhm.2_Missense_Mutation_p.S321I|WDR25_uc001yhn.2_Missense_Mutation_p.S329I|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.S72I	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	329	WD 2.										0		Melanoma(154;0.212)																---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101198408	101198408	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101198408G>A	uc001yhs.3	+	4	445	c.292G>A	c.(292-294)GCC>ACC	p.A98T	DLK1_uc001yhu.3_Missense_Mutation_p.A98T	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	98	Extracellular (Potential).|EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)																---	---	---	---
MIR493	574450	broad.mit.edu	37	14	101335474	101335474	+	RNA	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101335474G>C	hsa-mir-493|MI0003132	+			c.78G>C																				0																		---	---	---	---
SNORD113-2	767562	broad.mit.edu	37	14	101393741	101393741	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101393741A>T	uc001yij.2	+	1		c.63A>T				NR_003230				Homo sapiens small nucleolar RNA, C/D box 113-2 (SNORD113-2), non-coding RNA.												0																		---	---	---	---
MIR487A	619555	broad.mit.edu	37	14	101518813	101518813	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101518813T>C	hsa-mir-487a|MI0002471	+			c.31T>C			uc010awe.2_5'Flank|MIR382_hsa-mir-382|MI0000790_5'Flank|uc010txo.1_5'Flank|MIR134_hsa-mir-134|MI0000474_5'Flank|MIR668_hsa-mir-668|MI0003761_5'Flank|MIR485_hsa-mir-485|MI0002469_5'Flank																	0																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102453856	102453856	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102453856T>C	uc001yks.2	+	9	2769	c.2605T>C	c.(2605-2607)TAT>CAT	p.Y869H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	869	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102461592	102461592	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102461592G>A	uc001yks.2	+	15	3683	c.3519G>A	c.(3517-3519)GTG>GTA	p.V1173V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1173	Potential.|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474611	102474611	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102474611T>C	uc001yks.2	+	29	6078	c.5914T>C	c.(5914-5916)TCC>CCC	p.S1972P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102483497	102483497	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102483497T>C	uc001yks.2	+	39	8085	c.7921T>C	c.(7921-7923)TAC>CAC	p.Y2641H	DYNC1H1_uc001ykt.1_Missense_Mutation_p.Y132H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2641	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102901049	102901049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102901049C>T	uc001ylw.1	+	9	2043	c.1895C>T	c.(1894-1896)CCC>CTC	p.P632L	TECPR2_uc010awl.2_Missense_Mutation_p.P632L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	632							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102918744	102918744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102918744G>A	uc001ylw.1	+	16	3568	c.3420G>A	c.(3418-3420)TGG>TGA	p.W1140*	TECPR2_uc010awl.2_Nonsense_Mutation_p.W1140*|TECPR2_uc010txx.1_Nonsense_Mutation_p.W303*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1140							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103452834	103452834	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103452834T>C	uc001ymi.1	-	6	912	c.680A>G	c.(679-681)GAT>GGT	p.D227G		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	227	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104220399	104220399	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104220399G>A	uc001yof.1	-						PPP1R13B_uc001yog.1_Intron	NM_015316	NP_056131			apoptosis-stimulating protein of p53, 1						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104472992	104472992	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104472992T>C	uc001yom.3	+	17	1919	c.1889T>C	c.(1888-1890)CTT>CCT	p.L630P	TDRD9_uc001yon.3_Missense_Mutation_p.L368P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	630					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104492062	104492062	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104492062A>G	uc001yom.3	+	26	2910	c.2880A>G	c.(2878-2880)AAA>AAG	p.K960K	TDRD9_uc001yon.3_Silent_p.K698K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	960	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)																---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104639002	104639002	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104639002C>A	uc001yos.3	+	7	1417	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	473	ATP (Potential).|Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)														---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105204736	105204736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105204736C>T	uc001ypd.2	+	3	393	c.319C>T	c.(319-321)CCA>TCA	p.P107S	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.P150S|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	107					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.P150S(1)		ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105207003	105207003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105207003G>A	uc001ypd.2	+	6	616	c.542G>A	c.(541-543)CGC>CAC	p.R181H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.R224H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	181					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)													---	---	---	---
AKT1	207	broad.mit.edu	37	14	105238712	105238712	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105238712T>C	uc001ypk.2	-	12	1804	c.1250A>G	c.(1249-1251)TAC>TGC	p.Y417C	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.Y417C|AKT1_uc010axa.2_Missense_Mutation_p.Y417C|AKT1_uc001ypm.2_Missense_Mutation_p.Y417C|AKT1_uc001ypn.2_Missense_Mutation_p.Y417C|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.Y355C	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	417	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)		1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105397263	105397263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105397263C>T	uc001ypu.1	+	7	1043	c.902C>T	c.(901-903)ACC>ATC	p.T301I	PLD4_uc010tyl.1_Missense_Mutation_p.T308I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	301					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		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)													---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405613	105405613	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405613G>T	uc010axc.1	-	7	16295	c.16175C>A	c.(16174-16176)CCA>CAA	p.P5392Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5292Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5392						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408953	105408953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408953G>A	uc010axc.1	-	7	12955	c.12835C>T	c.(12835-12837)CGG>TGG	p.R4279W	AHNAK2_uc001ypx.2_Missense_Mutation_p.R4179W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4279						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410623	105410623	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105410623G>T	uc010axc.1	-	7	11285	c.11165C>A	c.(11164-11166)CCC>CAC	p.P3722H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3622H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411049	105411049	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411049C>T	uc010axc.1	-	7	10859	c.10739G>A	c.(10738-10740)GGC>GAC	p.G3580D	AHNAK2_uc001ypx.2_Missense_Mutation_p.G3480D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3580						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411899	105411899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105411899C>T	uc010axc.1	-	7	10009	c.9889G>A	c.(9889-9891)GCC>ACC	p.A3297T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3197T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3297						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412394	105412394	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105412394C>T	uc010axc.1	-	7	9514	c.9394G>A	c.(9394-9396)GCC>ACC	p.A3132T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3032T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3132						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413160	105413160	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413160C>T	uc010axc.1	-	7	8748	c.8628G>A	c.(8626-8628)CAG>CAA	p.Q2876Q	AHNAK2_uc001ypx.2_Silent_p.Q2776Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2876						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413926	105413926	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413926G>A	uc010axc.1	-	7	7982	c.7862C>T	c.(7861-7863)CCG>CTG	p.P2621L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2521L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2621						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416427	105416427	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105416427G>A	uc010axc.1	-	7	5481	c.5361C>T	c.(5359-5361)CCC>CCT	p.P1787P	AHNAK2_uc001ypx.2_Silent_p.P1687P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1787						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419623	105419623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105419623T>C	uc010axc.1	-	7	2285	c.2165A>G	c.(2164-2166)GAC>GGC	p.D722G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D622G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	722						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105517541	105517541	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105517541G>T	uc001yqd.2	-	4	1832	c.933C>A	c.(931-933)GCC>GCA	p.A311A	GPR132_uc001yqc.2_Silent_p.A123A|GPR132_uc001yqe.2_Silent_p.A302A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	311	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)														---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716945	105716945	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105716945C>T	uc010tyq.1	+	5	1502	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	465						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106109871	106109871	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106109871A>T	uc010tyt.1	-						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106208024	106208024	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106208024A>T	uc010tyt.1	-	3628		c.59093T>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.I126N|uc001ysf.2_Missense_Mutation_p.I126N					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106320494	106320494	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106320494T>A	uc010tyt.1	-	3601		c.56480A>T			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106321133	106321133	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106321133C>T	uc010tyt.1	-	3600		c.56018G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106622014	106622014	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106622014C>T	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106845488	106845488	+	RNA	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106845488C>A	uc010tyt.1	-	305		c.12226G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106926613	106926613	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106926613A>G	uc010tyt.1	-	234		c.10045T>C			uc010tyu.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107078393	107078393	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107078393C>T	uc010tyt.1	-	117		c.5897G>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283037	107283037	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283037A>G	uc010tyt.1	-	1		c.51T>C			uc001ytb.1_Missense_Mutation_p.S36P					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283070	107283070	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283070G>A	uc010tyt.1	-	1		c.18C>T			uc001ytb.1_Nonsense_Mutation_p.Q25*					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22861939	22861939	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22861939A>G	uc001yur.3	+						TUBGCP5_uc001yuq.2_Intron|TUBGCP5_uc010axz.1_Intron	NM_052903	NP_443135			tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22956546	22956546	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22956546T>A	uc001yus.2	+	16	1887	c.1783T>A	c.(1783-1785)TTT>ATT	p.F595I	CYFIP1_uc001yut.2_Missense_Mutation_p.F595I|CYFIP1_uc010aya.1_Missense_Mutation_p.F623I|CYFIP1_uc001yuu.2_Missense_Mutation_p.F164I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	595					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	23000163	23000163	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23000163C>T	uc001yus.2	+	30	3621	c.3517C>T	c.(3517-3519)CGT>TGT	p.R1173C	CYFIP1_uc001yut.2_Missense_Mutation_p.R1173C|CYFIP1_uc001yuu.2_Missense_Mutation_p.R742C|CYFIP1_uc001yuv.2_Missense_Mutation_p.R367C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1173					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.R1173H(1)		ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006481	23006481	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006481G>T	uc001yux.2	-	8	1436	c.823C>A	c.(823-825)CCT>ACT	p.P275T	NIPA2_uc001yuy.2_Missense_Mutation_p.P275T|NIPA2_uc001yuz.2_Missense_Mutation_p.P275T|NIPA2_uc001yva.2_Missense_Mutation_p.P256T|NIPA2_uc001yvb.2_Missense_Mutation_p.P275T|NIPA2_uc010ayb.2_Missense_Mutation_p.P256T	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	275	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006661	23006661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23006661G>A	uc001yux.2	-	8	1256	c.643C>T	c.(643-645)CAT>TAT	p.H215Y	NIPA2_uc001yuy.2_Missense_Mutation_p.H215Y|NIPA2_uc001yuz.2_Missense_Mutation_p.H215Y|NIPA2_uc001yva.2_Missense_Mutation_p.H196Y|NIPA2_uc001yvb.2_Missense_Mutation_p.H215Y|NIPA2_uc010ayb.2_Missense_Mutation_p.H196Y	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	215	Extracellular (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931990	23931990	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931990C>T	uc001ywk.2	-	1	461	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	125	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223574	25223574	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25223574C>T	uc001ywp.1	+	13	1596	c.706C>T	c.(706-708)CGT>TGT	p.R236C	SNRPN_uc001ywq.1_Missense_Mutation_p.R236C|SNRPN_uc001ywr.1_Missense_Mutation_p.R236C|SNRPN_uc001yws.1_Missense_Mutation_p.R236C|SNRPN_uc001ywt.1_Missense_Mutation_p.R236C|SNRPN_uc001ywv.1_Missense_Mutation_p.R239C|SNRPN_uc001yww.1_Missense_Mutation_p.R236C|SNRPN_uc001ywx.1_Missense_Mutation_p.R236C|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236	Repeat-rich region.|				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25232146	25232146	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25232146C>T	uc001ywz.1	+						PAR-SN_uc001yxa.1_Intron|PAR-SN_uc001yxc.2_Intron|PAR5_uc001yxd.2_RNA					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25327959	25327959	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25327959C>T	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|SNORD116-16_uc001yya.2_RNA|IPW_uc001yyb.3_5'Flank|SNORD116-19_uc001yyc.2_5'Flank|uc001yyd.2_5'Flank|SNORD116-18_uc010ayk.2_5'Flank					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	25425726	25425726	+	5'Flank	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25425726A>G	uc001yyy.1	+						uc001yza.1_5'Flank|uc001yys.1_Intron|SNORD115-7_uc001yyw.1_Intron|SNORD115-7_uc001yyz.2_5'Flank					Homo sapiens clone Rt-7 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25490636	25490636	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25490636G>T	uc001zae.2	+						SNORD115-41_uc001zaj.1_RNA|SNORD115-10_uc001zak.1_5'Flank					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	25514961	25514961	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25514961A>G	uc001zae.2	+						uc001zan.1_Intron|SNORD115-48_uc001zao.1_RNA					Homo sapiens clone Rt-16 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616489	25616489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616489G>A	uc001zaq.2	-	4	841	c.841C>T	c.(841-843)CCT>TCT	p.P281S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P258S|UBE3A_uc001zas.2_Missense_Mutation_p.P278S|UBE3A_uc001zat.2_Missense_Mutation_p.P258S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	281					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616842	25616842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25616842A>G	uc001zaq.2	-	4	488	c.488T>C	c.(487-489)TTG>TCG	p.L163S	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.L140S|UBE3A_uc001zas.2_Missense_Mutation_p.L160S|UBE3A_uc001zat.2_Missense_Mutation_p.L140S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	163					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25926195	25926195	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25926195A>G	uc010ayu.2	-	18	3625	c.3519T>C	c.(3517-3519)TTT>TTC	p.F1173F		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1173	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25966960	25966960	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25966960T>C	uc010ayu.2	-	7	1313	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	403	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25981215	25981215	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25981215A>C	uc010ayu.2	-	3	834	c.728T>G	c.(727-729)TTT>TGT	p.F243C		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27182338	27182338	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27182338A>G	uc001zbd.1	+	9	926	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	196	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28380769	28380769	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28380769T>C	uc001zbj.2	-	79	12191	c.12085A>G	c.(12085-12087)ACA>GCA	p.T4029A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4029	RCC1 14.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28386919	28386919	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28386919A>G	uc001zbj.2	-	77	11880	c.11774T>C	c.(11773-11775)TTT>TCT	p.F3925S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3925					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28422651	28422651	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28422651G>A	uc001zbj.2	-	60	9274	c.9168C>T	c.(9166-9168)GGC>GGT	p.G3056G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3056	RCC1 7.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28441714	28441714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28441714A>G	uc001zbj.2	-	51	8119	c.8013T>C	c.(8011-8013)GCT>GCC	p.A2671A	HERC2_uc001zbk.1_Silent_p.A206A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28463797	28463797	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28463797T>A	uc001zbj.2	-	38	5972	c.5866A>T	c.(5866-5868)AAC>TAC	p.N1956Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1956					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28525254	28525254	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28525254T>C	uc001zbj.2	-	5	608	c.502A>G	c.(502-504)AAA>GAA	p.K168E	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	168					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
NDNL2	56160	broad.mit.edu	37	15	29561679	29561679	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29561679C>A	uc001zco.2	-	1	339	c.231G>T	c.(229-231)GTG>GTT	p.V77V	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	77					regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)												OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30012231	30012231	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30012231T>C	uc001zcr.2	-						TJP1_uc010azl.2_Intron|TJP1_uc001zcq.2_Intron|TJP1_uc001zcs.2_Intron	NM_003257	NP_003248			tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31234015	31234015	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31234015C>G	uc001zfh.1	-	16	2090	c.1992G>C	c.(1990-1992)TGG>TGC	p.W664C	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.W78C|MTMR10_uc001zfg.1_Missense_Mutation_p.W245C|MTMR10_uc010azx.1_Missense_Mutation_p.W416C|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	664							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31318334	31318334	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31318334A>G	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31354888	31354888	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31354888A>G	uc001zfm.2	-	8	1045	c.917T>C	c.(916-918)CTC>CCC	p.L306P	TRPM1_uc010azy.2_Missense_Mutation_p.L213P|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	306	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31358307	31358307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31358307C>T	uc001zfm.2	-	6	824	c.696G>A	c.(694-696)AAG>AAA	p.K232K	TRPM1_uc010azy.2_Silent_p.K145K|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	232	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
KLF13	51621	broad.mit.edu	37	15	31664305	31664305	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31664305G>A	uc001zfo.2	+	2	1003	c.670G>A	c.(670-672)GAG>AAG	p.E224K		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	224					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)														---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32936006	32936006	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32936006C>T	uc001zha.2	+	2	330	c.213C>T	c.(211-213)CCC>CCT	p.P71P	SCG5_uc001zgz.2_Silent_p.P71P	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	71					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33192193	33192193	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33192193T>A	uc001zhf.3	-	10	2972	c.2972A>T	c.(2971-2973)GAT>GTT	p.D991V		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1214	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33357235	33357235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33357235C>A	uc001zhf.3	-	2	1415	c.1415G>T	c.(1414-1416)GGC>GTC	p.G472V	FMN1_uc001zhg.2_Missense_Mutation_p.G472V	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	695	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33358942	33358942	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33358942C>A	uc001zhf.3	-	1	1144	c.1144G>T	c.(1144-1146)GGC>TGC	p.G382C	FMN1_uc001zhg.2_Missense_Mutation_p.G382C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	479	Microtubule-binding (By similarity).|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33359555	33359555	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33359555A>C	uc001zhf.3	-	1	531	c.531T>G	c.(529-531)TCT>TCG	p.S177S	FMN1_uc001zhg.2_Silent_p.S177S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33895365	33895365	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33895365C>T	uc001zhi.2	+	18	2034	c.1964C>T	c.(1963-1965)GCC>GTC	p.A655V	RYR3_uc010bar.2_Missense_Mutation_p.A655V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	655	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34016387	34016387	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34016387A>G	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34140608	34140608	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34140608G>A	uc001zhi.2	+	94	13684	c.13614G>A	c.(13612-13614)TTG>TTA	p.L4538L	RYR3_uc010bar.2_Silent_p.L4533L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4538					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355236	34355236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34355236G>A	uc001zhk.1	+	3	988	c.318G>A	c.(316-318)TGG>TGA	p.W106*	CHRM5_uc001zhl.1_Nonsense_Mutation_p.W106*	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	106	Helical; Name=3; (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)													---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34537953	34537953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34537953T>C	uc001zhw.2	-	13	1929	c.1765A>G	c.(1765-1767)ACA>GCA	p.T589A	SLC12A6_uc001zhv.2_Missense_Mutation_p.T538A|SLC12A6_uc001zhx.2_Missense_Mutation_p.T574A|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.T530A|SLC12A6_uc001zib.2_Missense_Mutation_p.T580A|SLC12A6_uc001zic.2_Missense_Mutation_p.T589A|SLC12A6_uc010bau.2_Missense_Mutation_p.T589A|SLC12A6_uc001zid.2_Missense_Mutation_p.T530A|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.T401A	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	589					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)													---	---	---	---
C15orf55	256646	broad.mit.edu	37	15	34648162	34648162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34648162T>C	uc001zif.2	+	7	2024	c.1869T>C	c.(1867-1869)TGT>TGC	p.C623C	C15orf55_uc010ucc.1_Silent_p.C651C|C15orf55_uc010ucd.1_Silent_p.C641C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	623						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)				T	BRD3|BRD4	lethal midline carcinoma								---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35045359	35045359	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35045359A>T	uc001zis.1	-	2	286	c.286T>A	c.(286-288)TAC>AAC	p.Y96N	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	96	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)														---	---	---	---
AQR	9716	broad.mit.edu	37	15	35185907	35185907	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35185907T>C	uc001ziv.2	-	23	2709	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	843						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)														---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35273848	35273848	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35273848A>G	uc001ziw.2	-	3	2099	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)														---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38591565	38591565	+	Intron	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38591565C>G	uc001zka.3	+							NM_152594	NP_689807			sprouty-related protein 1 with EVH-1 domain						inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										Legius_syndrome				---	---	---	---
C15orf54	400360	broad.mit.edu	37	15	39544627	39544627	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39544627A>G	uc001zkg.2	+	2	659	c.291A>G	c.(289-291)CAA>CAG	p.Q97Q		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	97											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)														---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39885877	39885877	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39885877G>T	uc001zkh.2	+						THBS1_uc010bbi.2_Intron	NM_003246	NP_003237			thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)													---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40005645	40005645	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40005645C>T	uc001zki.2	-	10	1406	c.1188G>A	c.(1186-1188)GTG>GTA	p.V396V		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	396										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40068628	40068628	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40068628A>G	uc001zki.2	-	2	316	c.98T>C	c.(97-99)GTG>GCG	p.V33A		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	33										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40094113	40094113	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40094113A>G	uc001zkj.1	-	3	1634	c.768T>C	c.(766-768)TAT>TAC	p.Y256Y	GPR176_uc010uck.1_Silent_p.Y196Y	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	256	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)												OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40099369	40099369	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40099369A>C	uc001zkj.1	-	2	1129	c.263T>G	c.(262-264)ATT>AGT	p.I88S	GPR176_uc010uck.1_Missense_Mutation_p.I28S	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	88	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)														---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40558052	40558052	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40558052C>T	uc010bbl.2	+	5	654	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAK6_uc010bbm.2_Missense_Mutation_p.R72W|PAK6_uc001zky.3_Missense_Mutation_p.R72W|PAK6_uc010bbn.2_Missense_Mutation_p.R72W|PAK6_uc001zlb.2_Missense_Mutation_p.R72W	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	72	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)														---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40594733	40594733	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40594733G>A	uc001zld.2	-	4	610	c.309C>T	c.(307-309)TCC>TCT	p.S103S	PLCB2_uc010bbo.2_Silent_p.S103S|PLCB2_uc010ucm.1_Silent_p.S103S|PLCB2_uc001zle.3_Silent_p.S103S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	103					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)														---	---	---	---
RPUSD2	27079	broad.mit.edu	37	15	40862035	40862035	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40862035A>G	uc001zmd.1	+	1	499	c.499A>G	c.(499-501)AGT>GGT	p.S167G		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	167					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)														---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915370	40915370	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40915370A>T	uc010bbs.1	+	11	3147	c.2986A>T	c.(2986-2988)ACA>TCA	p.T996S	CASC5_uc010ucq.1_Missense_Mutation_p.T820S|CASC5_uc001zme.2_Missense_Mutation_p.T970S|CASC5_uc010bbt.1_Missense_Mutation_p.T970S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	996	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41191463	41191463	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41191463G>T	uc001zne.2	+	4	786	c.447G>T	c.(445-447)AAG>AAT	p.K149N		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	149					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192724	41192724	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41192724G>A	uc001zne.2	+	4	2047	c.1708G>A	c.(1708-1710)GTG>ATG	p.V570M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	570					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---
INO80	54617	broad.mit.edu	37	15	41352087	41352087	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41352087A>C	uc001zni.2	-	15	2033	c.1820T>G	c.(1819-1821)GTC>GGC	p.V607G	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	607	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41482161	41482161	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41482161A>T	uc001znk.2	-	9	1047	c.856T>A	c.(856-858)TCT>ACT	p.S286T	EXD1_uc001znj.2_Missense_Mutation_p.S84T|EXD1_uc010ucv.1_Missense_Mutation_p.S344T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	286					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41509324	41509324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41509324G>A	uc001znk.2	-	2	248	c.57C>T	c.(55-57)GGC>GGT	p.G19G	EXD1_uc010ucv.1_Silent_p.G77G	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	19					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41663789	41663789	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41663789T>A	uc001zns.3	+	8	1143	c.913T>A	c.(913-915)TCT>ACT	p.S305T	NUSAP1_uc001znq.3_Missense_Mutation_p.S110T|NUSAP1_uc001znr.3_Missense_Mutation_p.S304T|NUSAP1_uc010bce.2_Missense_Mutation_p.S305T|NUSAP1_uc001znt.3_Missense_Mutation_p.S290T|NUSAP1_uc001znv.3_Missense_Mutation_p.S303T|NUSAP1_uc001znu.3_Missense_Mutation_p.S304T|NUSAP1_uc010ucw.1_Missense_Mutation_p.S281T|NUSAP1_uc001znw.3_Missense_Mutation_p.S109T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	305	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)														---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41815492	41815492	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41815492G>A	uc001zod.2	-	18	2621	c.2497C>T	c.(2497-2499)CTG>TTG	p.L833L	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	833	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42028759	42028759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42028759C>T	uc010ucy.1	+	13	4478	c.4297C>T	c.(4297-4299)CAG>TAG	p.Q1433*	MGA_uc010ucz.1_Nonsense_Mutation_p.Q1433*|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1433						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42041713	42041713	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42041713A>G	uc010ucy.1	+	17	6089	c.5908A>G	c.(5908-5910)AGA>GGA	p.R1970G	MGA_uc010ucz.1_Missense_Mutation_p.R1761G|MGA_uc010uda.1_Missense_Mutation_p.R586G|MGA_uc001zoi.2_Missense_Mutation_p.R184G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1931	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42147511	42147511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42147511G>A	uc001zos.2	-	55	9562	c.9229C>T	c.(9229-9231)CGA>TGA	p.R3077*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3112	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42156099	42156099	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42156099G>T	uc001zos.2	-							NM_016642	NP_057726			spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42298290	42298290	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42298290T>C	uc001zow.1	-	3	336	c.336A>G	c.(334-336)GAA>GAG	p.E112E		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	123	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)														---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42437796	42437796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42437796T>C	uc001zoz.2	-	16	1820	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Missense_Mutation_p.Y218C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.Y337C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.Y337C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.Y373C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	586	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731697	42731697	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731697C>T	uc001zpw.2	-	8	4344	c.4009G>A	c.(4009-4011)GCA>ACA	p.A1337T	ZFP106_uc001zpu.2_Missense_Mutation_p.A435T|ZFP106_uc001zpv.2_Missense_Mutation_p.A522T|ZFP106_uc001zpx.2_Missense_Mutation_p.A565T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1337						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
ZFP106	64397	broad.mit.edu	37	15	42731731	42731731	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42731731T>C	uc001zpw.2	-	8	4310	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	ZFP106_uc001zpu.2_Silent_p.E423E|ZFP106_uc001zpv.2_Silent_p.E510E|ZFP106_uc001zpx.2_Silent_p.E553E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1325						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43021290	43021290	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43021290G>A	uc001zql.2	-	19	2693	c.2576C>T	c.(2575-2577)CCG>CTG	p.P859L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.P185L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	859						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43026186	43026186	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43026186A>T	uc001zql.2	-	8	1434	c.1317T>A	c.(1315-1317)AAT>AAA	p.N439K	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	439						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43367236	43367236	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43367236A>G	uc001zqq.2	-	4	535	c.469T>C	c.(469-471)TGG>CGG	p.W157R	UBR1_uc010udk.1_Missense_Mutation_p.W157R	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	157	UBR-type.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43500968	43500968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43500968G>A	uc001zra.3	-	7	1138	c.838C>T	c.(838-840)CGA>TGA	p.R280*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.R125*|EPB42_uc001zrb.3_Nonsense_Mutation_p.R310*|EPB42_uc010udm.1_Nonsense_Mutation_p.R202*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43622496	43622496	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43622496C>T	uc001zrg.2	-	1	396	c.192G>A	c.(190-192)AGG>AGA	p.R64R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	64					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)													---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43701152	43701152	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43701152T>C	uc001zrs.2	-	26	5676	c.5528A>G	c.(5527-5529)TAC>TGC	p.Y1843C	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1841C|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1846C|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1848C|TP53BP1_uc001zrp.2_Missense_Mutation_p.Y260C	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1843	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714210	43714210	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43714210A>G	uc001zrs.2	-	19	4076	c.3928T>C	c.(3928-3930)TCC>CCC	p.S1310P	TP53BP1_uc010udp.1_Missense_Mutation_p.S1310P|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1315P|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1315P|TP53BP1_uc010udq.1_Missense_Mutation_p.S1315P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1310					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43733752	43733752	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43733752A>T	uc001zrs.2	-	15	3203	c.3055T>A	c.(3055-3057)TCT>ACT	p.S1019T	TP53BP1_uc010udp.1_Missense_Mutation_p.S1019T|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1024T|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1024T|TP53BP1_uc010udq.1_Missense_Mutation_p.S1024T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1019					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817621	43817621	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43817621T>C	uc001zrt.2	+	4	4417	c.3950T>C	c.(3949-3951)CTG>CCG	p.L1317P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1317						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)													---	---	---	---
STRC	161497	broad.mit.edu	37	15	43892737	43892737	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43892737A>G	uc001zsf.2	-	26	5066	c.4988T>C	c.(4987-4989)ATA>ACA	p.I1663T	STRC_uc010bdl.2_Missense_Mutation_p.I890T|STRC_uc001zse.2_Missense_Mutation_p.I181T	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1663					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	T	T	rs140242525		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
CKMT1A	548596	broad.mit.edu	37	15	43991208	43991208	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43991208A>G	uc001zsn.2	+	10	1567	c.1175A>G	c.(1174-1176)TAT>TGT	p.Y392C	CKMT1A_uc010uea.1_Missense_Mutation_p.Y423C|CKMT1A_uc001zso.3_Missense_Mutation_p.Y392C	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	392	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)													---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44877948	44877948	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44877948A>G	uc001ztx.2	-	29	5038	c.5007T>C	c.(5005-5007)CTT>CTC	p.L1669L	SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Silent_p.L1669L|SPG11_uc010uei.1_Silent_p.L1669L|SPG11_uc001zty.1_Silent_p.L398L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1669	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45398417	45398417	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45398417A>G	uc010bea.2	-	17	2257	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	DUOX2_uc001zun.2_Missense_Mutation_p.V685A	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	685	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)														---	---	---	---
DUOXA1	90527	broad.mit.edu	37	15	45415136	45415136	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45415136C>A	uc001zuq.1	-	1	106	c.77G>T	c.(76-78)AGC>ATC	p.S26I	DUOXA1_uc010uem.1_Missense_Mutation_p.S26I|DUOXA1_uc001zup.2_Missense_Mutation_p.S26I|DUOXA1_uc010bec.2_Missense_Mutation_p.S26I|DUOXA1_uc001zur.1_Missense_Mutation_p.S26I|DUOXA1_uc010bed.1_Missense_Mutation_p.S26I	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	26	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)														---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45445594	45445594	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45445594C>T	uc001zus.1	+	27	3787	c.3441C>T	c.(3439-3441)GGC>GGT	p.G1147G	DUOX1_uc001zut.1_Silent_p.G1147G|DUOX1_uc010bee.1_Silent_p.G527G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1147	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---
SQRDL	58472	broad.mit.edu	37	15	45974673	45974673	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45974673T>C	uc001zvt.2	+						SQRDL_uc001zvu.2_Intron|SQRDL_uc001zvv.2_Intron	NM_021199	NP_067022			sulfide dehydrogenase like precursor								oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48060784	48060784	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48060784A>G	uc010bek.2	+	18	2132	c.1772A>G	c.(1771-1773)GAG>GGG	p.E591G	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.E591G|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Missense_Mutation_p.E572G|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	591	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063628	48063628	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063628T>G	uc010bek.2	+	19	3228	c.2868T>G	c.(2866-2868)ACT>ACG	p.T956T	SEMA6D_uc001zvw.2_Silent_p.T894T|SEMA6D_uc001zvy.2_Silent_p.T956T|SEMA6D_uc001zvz.2_Silent_p.T900T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.T894T|SEMA6D_uc001zwc.2_Silent_p.T881T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	956	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063661	48063661	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063661T>A	uc010bek.2	+	19	3261	c.2901T>A	c.(2899-2901)AAT>AAA	p.N967K	SEMA6D_uc001zvw.2_Missense_Mutation_p.N905K|SEMA6D_uc001zvy.2_Missense_Mutation_p.N967K|SEMA6D_uc001zvz.2_Missense_Mutation_p.N911K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N905K|SEMA6D_uc001zwc.2_Missense_Mutation_p.N892K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	967	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063820	48063820	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063820T>C	uc010bek.2	+	19	3420	c.3060T>C	c.(3058-3060)CAT>CAC	p.H1020H	SEMA6D_uc001zvw.2_Silent_p.H958H|SEMA6D_uc001zvy.2_Silent_p.H1020H|SEMA6D_uc001zvz.2_Silent_p.H964H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.H958H|SEMA6D_uc001zwc.2_Silent_p.H945H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1020	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48435261	48435261	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48435261T>G	uc001zwi.3	-	17	1771	c.1647A>C	c.(1645-1647)GTA>GTC	p.V549V	MYEF2_uc001zwg.3_Silent_p.V87V|MYEF2_uc001zwh.3_Silent_p.V137V|MYEF2_uc001zwj.3_Silent_p.V525V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	549	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48451831	48451831	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48451831A>G	uc001zwi.3	-	6	820	c.696T>C	c.(694-696)GGT>GGC	p.G232G	MYEF2_uc001zwj.3_Silent_p.G232G|MYEF2_uc001zwl.2_Silent_p.G72G	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	232					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
DUT	1854	broad.mit.edu	37	15	48626625	48626625	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48626625A>G	uc001zws.2	+	3	523	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	DUT_uc001zwt.2_Missense_Mutation_p.Y33C|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Missense_Mutation_p.Y56C|DUT_uc001zww.2_Missense_Mutation_p.Y56C|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	144					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)									Modulation_of_nucleotide_pools					---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717623	48717623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48717623A>G	uc001zwx.1	-	60	7724	c.7396T>C	c.(7396-7398)TAC>CAC	p.Y2466H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2466	EGF-like 42; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48796050	48796050	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48796050A>G	uc001zwx.1	-	17	2375	c.2047T>C	c.(2047-2049)TGC>CGC	p.C683R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	683	TB 3.		C -> R (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48829959	48829959	+	Silent	SNP	G	A	A	rs1803584		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48829959G>A	uc001zwx.1	-	7	913	c.585C>T	c.(583-585)TGC>TGT	p.C195C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	195	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936859	48936859	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936859T>C	uc001zwx.1	-	2	436	c.108A>G	c.(106-108)GAA>GAG	p.E36E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	36					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48936889	48936889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48936889G>A	uc001zwx.1	-	2	406	c.78C>T	c.(76-78)GAC>GAT	p.D26D		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	26					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49081124	49081124	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49081124A>G	uc001zwy.2	-	9	1081	c.1047T>C	c.(1045-1047)TCT>TCC	p.S349S	CEP152_uc001zwz.2_Silent_p.S349S|CEP152_uc001zxa.1_Silent_p.S256S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	349	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49089787	49089787	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49089787A>G	uc001zwy.2	-						CEP152_uc001zwz.2_Intron|CEP152_uc001zxa.1_Intron	NM_014985	NP_055800			centrosomal protein 152kDa						centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49135610	49135610	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49135610G>A	uc001zxb.1	-	10	1908	c.1479C>T	c.(1477-1479)TGC>TGT	p.C493C	SHC4_uc010uey.1_Silent_p.C250C|SHC4_uc010uez.1_Silent_p.C207C	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	493	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49176493	49176493	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49176493C>T	uc001zxb.1	-	4	1221	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	264	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49292172	49292172	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49292172T>G	uc001zxe.1	-	16	2395	c.2261A>C	c.(2260-2262)GAG>GCG	p.E754A	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E709A|SECISBP2L_uc010bep.1_Missense_Mutation_p.E516A	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	754										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49325281	49325281	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49325281T>C	uc001zxe.1	-	4	679	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q182R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.Q182R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	182										breast(1)|skin(1)	2																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49327526	49327526	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49327526C>T	uc001zxe.1	-						SECISBP2L_uc001zxd.1_Intron|SECISBP2L_uc010bep.1_Intron|SECISBP2L_uc010beq.1_Intron	NM_014701	NP_055516			SECIS binding protein 2-like											breast(1)|skin(1)	2																		---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49509474	49509474	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49509474A>T	uc001zxj.1	+	3	328	c.230A>T	c.(229-231)TAC>TTC	p.Y77F	GALK2_uc001zxi.1_Missense_Mutation_p.Y66F|GALK2_uc010ufb.1_Missense_Mutation_p.Y53F|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.Y53F	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	77					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---
DTWD1	56986	broad.mit.edu	37	15	49926794	49926794	+	Missense_Mutation	SNP	A	G	G	rs35574741		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49926794A>G	uc001zxq.2	+	5	747	c.470A>G	c.(469-471)CAA>CGA	p.Q157R	DTWD1_uc001zxs.2_Missense_Mutation_p.Q157R|DTWD1_uc001zxr.2_Missense_Mutation_p.Q70R|DTWD1_uc001zxo.2_Missense_Mutation_p.Q157R	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	157											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)														---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50264895	50264895	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50264895G>A	uc001zxu.2	-	13	1269	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	ATP8B4_uc010ber.2_Missense_Mutation_p.T249M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T249M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	376	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---
HDC	3067	broad.mit.edu	37	15	50535355	50535355	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50535355C>T	uc001zxz.2	-	11	1333	c.1227G>A	c.(1225-1227)GTG>GTA	p.V409V	HDC_uc001zxy.2_Silent_p.V152V|HDC_uc010uff.1_Silent_p.V376V	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	409					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)													---	---	---	---
USP8	9101	broad.mit.edu	37	15	50769071	50769071	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50769071A>G	uc001zym.3	+	10	1375	c.875A>G	c.(874-876)AAT>AGT	p.N292S	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.N292S|USP8_uc001zyn.3_Missense_Mutation_p.N292S|USP8_uc010ufh.1_Missense_Mutation_p.N215S|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	292	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50886647	50886647	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50886647C>T	uc001zyt.3	-	24	3718	c.3454G>A	c.(3454-3456)GAT>AAT	p.D1152N	TRPM7_uc010bew.1_Missense_Mutation_p.D1152N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1152	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)														---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51285692	51285692	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51285692A>T	uc001zyx.1	+	17	2246	c.2216A>T	c.(2215-2217)GAG>GTG	p.E739V		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	739					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)														---	---	---	---
TNFAIP8L3	388121	broad.mit.edu	37	15	51350349	51350349	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51350349G>A	uc001zyy.2	-	3	708	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	203											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51634204	51634204	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51634204G>A	uc002aba.2	+	1	492	c.323G>A	c.(322-324)AGC>AAC	p.S108N	GLDN_uc010bez.1_Missense_Mutation_p.S108N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	108	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51689758	51689758	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51689758C>T	uc002aba.2	+	6	949	c.780C>T	c.(778-780)GGC>GGT	p.G260G	GLDN_uc002abb.2_Silent_p.G136G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	260	Extracellular (Potential).|Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51748351	51748351	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51748351T>A	uc002abf.2	-	38	8597	c.8372A>T	c.(8371-8373)GAA>GTA	p.E2791V	DMXL2_uc002abd.2_Missense_Mutation_p.E883V|DMXL2_uc010ufy.1_Missense_Mutation_p.E2792V|DMXL2_uc010bfa.2_Missense_Mutation_p.E2155V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2791	WD 11.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828742	51828742	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51828742T>A	uc002abf.2	-	12	2160	c.1935A>T	c.(1933-1935)AGA>AGT	p.R645S	DMXL2_uc010ufy.1_Missense_Mutation_p.R645S|DMXL2_uc010bfa.2_Missense_Mutation_p.R645S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	645						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51980445	51980445	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51980445C>T	uc002abh.2	+						SCG3_uc010ufz.1_Intron	NM_013243	NP_037375			secretogranin III isoform 1 precursor						platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)														---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52263944	52263944	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52263944A>G	uc002abo.2	-	1					LEO1_uc010bfd.2_5'UTR	NM_138792	NP_620147			Leo1, Paf1/RNA polymerase II complex component,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)														---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52339143	52339143	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52339143G>A	uc002abp.2	+	2	1280	c.486G>A	c.(484-486)ACG>ACA	p.T162T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	162	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52503982	52503982	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52503982T>C	uc010bff.2	-	35	4378	c.4241A>G	c.(4240-4242)AAC>AGC	p.N1414S	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1414						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564895	52564895	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564895C>T	uc010bff.2	-	6	769	c.632G>A	c.(631-633)CGC>CAC	p.R211H	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Missense_Mutation_p.R174H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	211	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52680091	52680091	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52680091C>A	uc002aby.2	-	14	1931	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*	MYO5A_uc002abx.3_Nonsense_Mutation_p.G563*|MYO5A_uc010uge.1_Nonsense_Mutation_p.G432*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	563	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52689518	52689518	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52689518C>T	uc002aby.2	-	10	1443	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	MYO5A_uc002abx.3_Missense_Mutation_p.R400H|MYO5A_uc010uge.1_Missense_Mutation_p.R269H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	400	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
ARPP19	10776	broad.mit.edu	37	15	52849361	52849361	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52849361C>T	uc002acd.1	-	2	228	c.104G>A	c.(103-105)AGA>AAA	p.R35K	ARPP19_uc002ace.1_Missense_Mutation_p.R35K	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	35					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0																		---	---	---	---
KIAA1370	56204	broad.mit.edu	37	15	52902186	52902186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52902186C>T	uc002acg.3	-	6	1078	c.925G>A	c.(925-927)GAC>AAC	p.D309N	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D221N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D316N	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	309											0				all cancers(107;0.0803)														---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081207	53081207	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53081207A>G	uc002aci.1	-	1	1003	c.875T>C	c.(874-876)ATC>ACC	p.I292T		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307698	54307698	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307698T>C	uc002ack.2	+	1	2598	c.2598T>C	c.(2596-2598)GAT>GAC	p.D866D		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	866					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307737	54307737	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307737T>C	uc002ack.2	+	1	2637	c.2637T>C	c.(2635-2637)GTT>GTC	p.V879V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	879					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55516108	55516108	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55516108A>G	uc002aco.2	-	6	679	c.446T>C	c.(445-447)ATA>ACA	p.I149T	RAB27A_uc002acr.2_Missense_Mutation_p.I149T|RAB27A_uc002acp.2_Missense_Mutation_p.I149T|RAB27A_uc002acq.2_Missense_Mutation_p.I149T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	149					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55522617	55522617	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55522617T>A	uc002aco.2	-	4	454	c.221A>T	c.(220-222)GAC>GTC	p.D74V	RAB27A_uc002acr.2_Missense_Mutation_p.D74V|RAB27A_uc002acp.2_Missense_Mutation_p.D74V|RAB27A_uc002acq.2_Missense_Mutation_p.D74V	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	74	GTP (By similarity).				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)														---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55652398	55652398	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55652398A>T	uc002acv.1	-	8	1738	c.1573T>A	c.(1573-1575)TTC>ATC	p.F525I	CCPG1_uc002acy.2_Missense_Mutation_p.F525I|CCPG1_uc002acu.1_Missense_Mutation_p.F381I|CCPG1_uc002acw.1_Missense_Mutation_p.F250I|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.F525I|CCPG1_uc002acz.1_Missense_Mutation_p.F525I	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	525	Lumenal (Potential).|Potential.				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)														---	---	---	---
MIR628	693213	broad.mit.edu	37	15	55665215	55665215	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55665215A>G	hsa-mir-628|MI0003642	-			c.18A>G			CCPG1_uc002acy.2_Intron|CCPG1_uc002acu.1_5'Flank|CCPG1_uc002acw.1_Intron|CCPG1_uc002acv.1_Intron|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Intron|CCPG1_uc002acz.1_Intron																	0																		---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838265	55838265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55838265T>C	uc010bfl.1	-	3	1272	c.1216A>G	c.(1216-1218)ACT>GCT	p.T406A	PYGO1_uc002adf.1_Missense_Mutation_p.T406A	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	406					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55971497	55971497	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55971497T>G	uc002adg.2	-	7	1168	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	374	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56140591	56140591	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56140591C>T	uc002adj.2	-	13	3078	c.2778G>A	c.(2776-2778)GAG>GAA	p.E926E	NEDD4_uc002adl.2_Silent_p.E507E|NEDD4_uc002adi.2_Silent_p.E854E|NEDD4_uc010ugj.1_Silent_p.E910E|NEDD4_uc010bfm.2_Silent_p.E909E|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	926	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)														---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56388470	56388470	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56388470T>C	uc010bfn.2	-	9	1456	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.N300D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	389					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
TEX9	374618	broad.mit.edu	37	15	56719831	56719831	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56719831T>A	uc002adp.2	+	11	997	c.992T>A	c.(991-993)ATT>AAT	p.I331N	TEX9_uc010ugl.1_Missense_Mutation_p.I256N	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	331	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)														---	---	---	---
GCOM1	145781	broad.mit.edu	37	15	57925827	57925827	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57925827T>A	uc002aei.2	+	8	940	c.821T>A	c.(820-822)TTT>TAT	p.F274Y	GCOM1_uc002aej.2_Missense_Mutation_p.F274Y|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.F274Y|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.F274Y|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	274	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59139679	59139679	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59139679T>C	uc002afj.2	+						FAM63B_uc002afi.2_Intron|FAM63B_uc002afk.2_Intron|FAM63B_uc002afl.2_Intron	NM_001040450	NP_001035540			hypothetical protein LOC54629 isoform a											central_nervous_system(1)	1																		---	---	---	---
LDHAL6B	92483	broad.mit.edu	37	15	59499212	59499212	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59499212G>T	uc002agb.2	+	1	171	c.73G>T	c.(73-75)GGG>TGG	p.G25W	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	25					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)													---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59500995	59500995	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59500995G>A	uc002aga.2	-	14	1787	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	472	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)														---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59752285	59752285	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59752285T>C	uc002agc.2	+	3	361	c.174T>C	c.(172-174)ATT>ATC	p.I58I	FAM81A_uc010uha.1_Silent_p.I58I	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	58										ovary(1)	1																		---	---	---	---
NARG2	79664	broad.mit.edu	37	15	60741267	60741267	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60741267T>G	uc002agp.2	-	10	2134	c.1899A>C	c.(1897-1899)AAA>AAC	p.K633N	NARG2_uc002ago.2_Missense_Mutation_p.K496N|NARG2_uc002agq.3_Missense_Mutation_p.K301N	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	633						nucleus				ovary(1)|lung(1)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62155653	62155653	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62155653A>G	uc002agz.2	-	82	11012	c.10938T>C	c.(10936-10938)CTT>CTC	p.L3646L	VPS13C_uc002aha.2_Silent_p.L3603L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3646					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62208153	62208153	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62208153A>G	uc002agz.2	-	61	8198	c.8124T>C	c.(8122-8124)GGT>GGC	p.G2708G	VPS13C_uc002aha.2_Silent_p.G2665G|VPS13C_uc002ahb.1_Silent_p.G2708G|VPS13C_uc002ahc.1_Silent_p.G2665G|VPS13C_uc002ahd.1_Silent_p.G85G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2708					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62210431	62210431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62210431A>G	uc002agz.2	-	59	7738	c.7664T>C	c.(7663-7665)TTT>TCT	p.F2555S	VPS13C_uc002aha.2_Missense_Mutation_p.F2512S|VPS13C_uc002ahb.1_Missense_Mutation_p.F2555S|VPS13C_uc002ahc.1_Missense_Mutation_p.F2512S|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2555					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62251774	62251774	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62251774A>G	uc002agz.2	-	36	4003	c.3929T>C	c.(3928-3930)ATC>ACC	p.I1310T	VPS13C_uc002aha.2_Missense_Mutation_p.I1267T|VPS13C_uc002ahb.1_Missense_Mutation_p.I1310T|VPS13C_uc002ahc.1_Missense_Mutation_p.I1267T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1310					protein localization					ovary(2)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62253854	62253854	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62253854T>C	uc002agz.2	-	35	3916	c.3842A>G	c.(3841-3843)GAA>GGA	p.E1281G	VPS13C_uc002aha.2_Missense_Mutation_p.E1238G|VPS13C_uc002ahb.1_Missense_Mutation_p.E1281G|VPS13C_uc002ahc.1_Missense_Mutation_p.E1238G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1281					protein localization					ovary(2)	2																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945511	62945511	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62945511A>T	uc002alb.3	+	4	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	172	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63031735	63031735	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63031735C>T	uc002alb.3	+	28	3876	c.3876C>T	c.(3874-3876)GGC>GGT	p.G1292G	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1292					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
USP3	9960	broad.mit.edu	37	15	63862713	63862713	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63862713C>T	uc002amf.2	+	9	972	c.843C>T	c.(841-843)AAC>AAT	p.N281N	USP3_uc010uii.1_RNA|USP3_uc002amg.2_Silent_p.N196N|USP3_uc002amh.2_Silent_p.N259N|USP3_uc010uij.1_Silent_p.N237N|USP3_uc010uik.1_Silent_p.N32N|USP3_uc010bgs.2_Silent_p.N264N|USP3_uc002ami.2_Silent_p.N112N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	281					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63904619	63904619	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63904619T>C	uc002amp.2	-	77	14379	c.14231A>G	c.(14230-14232)TAC>TGC	p.Y4744C	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4744	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63937702	63937702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63937702C>T	uc002amp.2	-	56	11206	c.11058G>A	c.(11056-11058)AAG>AAA	p.K3686K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3686	WD 9.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63950833	63950833	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63950833C>T	uc002amp.2	-	48	9657	c.9509G>A	c.(9508-9510)CGT>CAT	p.R3170H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3170					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64011049	64011049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64011049A>G	uc002amp.2	-	20	3938	c.3790T>C	c.(3790-3792)TCT>CCT	p.S1264P	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1264					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64915123	64915123	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64915123T>C	uc002ann.2	+	2	845	c.845T>C	c.(844-846)GTT>GCT	p.V282A		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	282						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973005	64973005	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64973005A>G	uc002ann.2	+	7	4106	c.4106A>G	c.(4105-4107)CAC>CGC	p.H1369R		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1369	Poly-His.					nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65041207	65041207	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65041207C>T	uc002anq.2	-	5	662	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	137							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65111388	65111388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65111388G>A	uc002ant.2	-	9	1434	c.1368C>T	c.(1366-1368)AAC>AAT	p.N456N	PIF1_uc002anr.2_Silent_p.N4N|PIF1_uc002ans.2_Silent_p.N147N|PIF1_uc010uiq.1_Silent_p.N456N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	456	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65112130	65112130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65112130G>A	uc002ant.2	-	8	1315	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Nonsense_Mutation_p.R108*|PIF1_uc010uiq.1_Nonsense_Mutation_p.R417*	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	417	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---
MTFMT	123263	broad.mit.edu	37	15	65308852	65308852	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65308852A>G	uc002aof.3	-	6	761	c.735T>C	c.(733-735)TCT>TCC	p.S245S		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	245						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)													---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65746615	65746615	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65746615A>G	uc002aov.2	-	17	3883	c.2305T>C	c.(2305-2307)TCA>CCA	p.S769P	DPP8_uc002aow.2_Missense_Mutation_p.S769P|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.S753P|DPP8_uc002aoy.2_Intron|DPP8_uc002aoz.2_Intron|DPP8_uc010bhj.2_Missense_Mutation_p.S769P|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Missense_Mutation_p.S72P|DPP8_uc010bhk.1_Missense_Mutation_p.S338P	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	769					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65956734	65956734	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65956734T>C	uc002aph.2	-	31	5769	c.5391_splice	c.e31-1	p.R1797_splice	DENND4A_uc002api.2_Splice_Site_p.R1840_splice	NM_005848	NP_005839			DENN/MADD domain containing 4A isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65983416	65983416	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65983416A>G	uc002aph.2	-	22	3762	c.3384T>C	c.(3382-3384)AGT>AGC	p.S1128S	DENND4A_uc002api.2_Silent_p.S1171S|DENND4A_uc002apj.3_Silent_p.S1128S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
RAB11A	8766	broad.mit.edu	37	15	66170134	66170134	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66170134T>C	uc002apk.2	+	3	399	c.271T>C	c.(271-273)TAT>CAT	p.Y91H	RAB11A_uc010ujk.1_Missense_Mutation_p.Y91H	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	91					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67004051	67004051	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67004051A>G	uc002aqf.2	+	2	1786	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.Y27C	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	288					BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67008838	67008838	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67008838T>C	uc002aqf.2	+	3	1875	c.952_splice	c.e3+2	p.D318_splice	SMAD6_uc010bhx.2_Splice_Site|SMAD6_uc002aqg.2_Splice_Site_p.D57_splice	NM_005585	NP_005576			SMAD family member 6 isoform 1						BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1																		---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67482849	67482849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67482849G>A	uc002aqj.2	+	9	1551	c.1253G>A	c.(1252-1254)AGC>AAC	p.S418N	SMAD3_uc010ujr.1_Missense_Mutation_p.S313N|SMAD3_uc010ujs.1_Missense_Mutation_p.S374N|SMAD3_uc010ujt.1_Missense_Mutation_p.S223N	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	418	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)														---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67692609	67692609	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67692609A>G	uc002aqo.1	+	14	2110	c.2063A>G	c.(2062-2064)TAT>TGT	p.Y688C	IQCH_uc002aqq.1_Missense_Mutation_p.Y345C|IQCH_uc002aqp.1_Missense_Mutation_p.Y349C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	688										skin(3)|ovary(1)	4				Colorectal(3;0.0856)														---	---	---	---
MAP2K5	5607	broad.mit.edu	37	15	67995750	67995750	+	Intron	SNP	C	T	T	rs55855141	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67995750C>T	uc002aqu.2	+						MAP2K5_uc002aqv.2_Intron|MAP2K5_uc002aqw.2_Intron|MAP2K5_uc002aqx.2_Intron	NM_145160	NP_660143			mitogen-activated protein kinase kinase 5						nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2																		---	---	---	---
LBXCOR1	390598	broad.mit.edu	37	15	68118726	68118726	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68118726G>T	uc002aqy.1	+	2	533	c.533G>T	c.(532-534)TGC>TTC	p.C178F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	187					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0																		---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68438930	68438930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68438930C>T	uc002aqz.2	+	6	816	c.720C>T	c.(718-720)GGC>GGT	p.G240G	PIAS1_uc010ujx.1_Silent_p.G240G	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	240	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68608055	68608055	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68608055C>T	uc002ari.2	-	22	2813	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	ITGA11_uc010bib.2_Missense_Mutation_p.R909H	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	909	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)													---	---	---	---
GLCE	26035	broad.mit.edu	37	15	69548299	69548299	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69548299T>C	uc002ary.1	+	3	382	c.154T>C	c.(154-156)TTT>CTT	p.F52L		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	52	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2																		---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69737152	69737152	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69737152C>T	uc002asb.2	+	19	2520	c.2403C>T	c.(2401-2403)AAC>AAT	p.N801N	KIF23_uc002asc.2_Silent_p.N697N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Silent_p.N514N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	801					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---
RPLP1	6176	broad.mit.edu	37	15	69747800	69747800	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69747800A>G	uc002asd.1	+	4	428	c.299A>G	c.(298-300)GAA>GGA	p.E100G	RPLP1_uc002ase.1_Missense_Mutation_p.E75G	NM_001003	NP_000994	P05386	RLA1_HUMAN	ribosomal protein P1 isoform 1	100					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71196973	71196973	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71196973A>T	uc002asw.2	+	5	626	c.379A>T	c.(379-381)ATA>TTA	p.I127L	LRRC49_uc002asu.2_Missense_Mutation_p.I117L|LRRC49_uc002asx.2_Missense_Mutation_p.I83L|LRRC49_uc010ukf.1_Missense_Mutation_p.I132L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.I99L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	127	LRR 1.					cytoplasm|microtubule				ovary(1)	1																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72050275	72050275	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72050275G>A	uc002atb.1	+	14	2529	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	THSD4_uc002ate.2_Missense_Mutation_p.R457H|THSD4_uc002atg.1_Missense_Mutation_p.R20H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	817	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72286859C>T	uc002atl.3	-	10	2011	c.1538G>A	c.(1537-1539)CGA>CAA	p.R513Q	MYO9A_uc010biq.2_Missense_Mutation_p.R108Q|MYO9A_uc002ato.2_Missense_Mutation_p.R513Q|MYO9A_uc002atn.1_Missense_Mutation_p.R494Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
GRAMD2	196996	broad.mit.edu	37	15	72455965	72455965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72455965G>A	uc002atq.2	-	9	758	c.734C>T	c.(733-735)CCT>CTT	p.P245L	GRAMD2_uc010bis.2_Missense_Mutation_p.P245L|GRAMD2_uc010ukh.1_Missense_Mutation_p.P39L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	245						integral to membrane					0																		---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72552962	72552962	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72552962C>T	uc002auc.2	-	9	1072	c.613G>A	c.(613-615)GTT>ATT	p.V205I	PARP6_uc002aua.2_Missense_Mutation_p.V70I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V205I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	205							NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72579601	72579601	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72579601G>T	uc002auh.2	-	12					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_3'UTR|CELF6_uc010ukl.1_3'UTR|CELF6_uc010ukm.1_3'UTR|CELF6_uc002aui.2_3'UTR|CELF6_uc002auj.2_3'UTR	NM_052840	NP_443072			bruno-like 6, RNA binding protein						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72580706	72580706	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72580706C>A	uc002auh.2	-	11	1571	c.1261G>T	c.(1261-1263)GCC>TCC	p.A421S	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.A308S|CELF6_uc010ukl.1_Missense_Mutation_p.A284S|CELF6_uc010ukm.1_Missense_Mutation_p.A394S|CELF6_uc002aui.2_Missense_Mutation_p.A527S|CELF6_uc002auj.2_Missense_Mutation_p.A308S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	421	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73542047	73542047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73542047C>T	uc002avm.3	+	11	2021	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NEO1_uc010ukx.1_Nonsense_Mutation_p.R627*|NEO1_uc010uky.1_Nonsense_Mutation_p.R627*|NEO1_uc010ukz.1_Nonsense_Mutation_p.R51*|NEO1_uc002avn.3_Nonsense_Mutation_p.R292*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	627	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73547093	73547093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73547093G>A	uc002avm.3	+	13	2157	c.2015G>A	c.(2014-2016)CGC>CAC	p.R672H	NEO1_uc010ukx.1_Missense_Mutation_p.R672H|NEO1_uc010uky.1_Missense_Mutation_p.R672H|NEO1_uc010ukz.1_Missense_Mutation_p.R96H|NEO1_uc002avn.3_Missense_Mutation_p.R337H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	672	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73575319	73575319	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73575319C>T	uc002avm.3	+	23	3419	c.3277C>T	c.(3277-3279)CAT>TAT	p.H1093Y	NEO1_uc010ukx.1_Missense_Mutation_p.H1082Y|NEO1_uc010uky.1_Missense_Mutation_p.H1093Y|NEO1_uc010ukz.1_Missense_Mutation_p.H506Y|NEO1_uc002avn.3_Missense_Mutation_p.H731Y	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1093	Extracellular (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73635998	73635998	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73635998T>C	uc002avp.2	-	2	1931	c.937A>G	c.(937-939)AAC>GAC	p.N313D		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	313	Helical; Name=Segment S2; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---
CD276	80381	broad.mit.edu	37	15	73994658	73994658	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73994658C>A	uc002avv.1	+	3	376	c.142C>A	c.(142-144)CTG>ATG	p.L48M	CD276_uc010bjd.1_Translation_Start_Site|CD276_uc002avu.1_Missense_Mutation_p.L48M|CD276_uc002avw.1_Missense_Mutation_p.L48M|CD276_uc010ulb.1_Intron|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	48	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1																		---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74427037	74427037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74427037C>T	uc002axd.2	+	4	2711	c.1942C>T	c.(1942-1944)CGT>TGT	p.R648C	ISLR2_uc002axe.2_Missense_Mutation_p.R648C|ISLR2_uc010bjg.2_Missense_Mutation_p.R648C|ISLR2_uc010bjf.2_Missense_Mutation_p.R648C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	648	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0																OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74565210	74565210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74565210T>C	uc002axo.2	+	7	1131	c.737T>C	c.(736-738)GTC>GCC	p.V246A	CCDC33_uc002axp.2_Missense_Mutation_p.V68A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	449							protein binding			ovary(3)|skin(2)	5																		---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74741564	74741564	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1																		---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888103	74888103	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74888103C>A	uc002aye.2	+	9	1875	c.1674C>A	c.(1672-1674)AGC>AGA	p.S558R	ARID3B_uc002ayd.2_Missense_Mutation_p.S557R|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	558	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75117871	75117871	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75117871G>A	uc002ayt.1	+	14	1508	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	LMAN1L_uc010bke.1_Silent_p.L490L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	502	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0																		---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75646609	75646609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75646609G>A	uc002bad.2	+	7	1371	c.865G>A	c.(865-867)GCA>ACA	p.A289T	NEIL1_uc002bae.2_Missense_Mutation_p.A375T|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	289					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1													BER_DNA_glycosylases					---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75648486	75648486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75648486C>T	uc002baf.2	-	25	2978	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Nonsense_Mutation_p.W964*|MAN2C1_uc002bah.2_Nonsense_Mutation_p.W1004*|MAN2C1_uc010bkk.2_Nonsense_Mutation_p.W888*	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	987					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75969124	75969124	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75969124G>A	uc002baw.2	-	10	5829	c.5736C>T	c.(5734-5736)AGC>AGT	p.S1912S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1912	CSPG 13.|Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
TSPAN3	10099	broad.mit.edu	37	15	77348527	77348527	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77348527A>G	uc002bcj.2	-	2	351	c.134T>C	c.(133-135)TTT>TCT	p.F45S	TSPAN3_uc002bck.2_Missense_Mutation_p.F45S|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	45	Extracellular (Potential).					integral to membrane					0				all cancers(203;1.14e-19)														---	---	---	---
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78398176G>A	uc002bdb.1	-	5	768	c.447C>T	c.(445-447)TGC>TGT	p.C149C	CIB2_uc002bdc.1_Silent_p.C106C|CIB2_uc010ums.1_Silent_p.C149C	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	149	EF-hand 3.						calcium ion binding				0																		---	---	---	---
IDH3A	3419	broad.mit.edu	37	15	78452424	78452424	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78452424T>C	uc002bdd.2	+						IDH3A_uc010umt.1_Intron|IDH3A_uc010umu.1_Intron|IDH3A_uc002bde.2_Intron|IDH3A_uc010umv.1_Intron|IDH3A_uc002bdf.2_Intron|IDH3A_uc002bdg.2_5'UTR	NM_005530	NP_005521			isocitrate dehydrogenase 3 (NAD+) alpha						carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---
WDR61	80349	broad.mit.edu	37	15	78582013	78582013	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78582013T>C	uc002bdn.2	-	7	586	c.510A>G	c.(508-510)GGA>GGG	p.G170G	WDR61_uc002bdo.2_Silent_p.G170G	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	170	WD 4.						protein binding			ovary(1)|skin(1)	2																		---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78732142	78732142	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78732142G>A	uc002bdr.2	+	2	187	c.25G>A	c.(25-27)GCC>ACC	p.A9T	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A9T	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	9							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78834954	78834954	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78834954T>C	uc002bdu.3	+	4	334	c.176T>C	c.(175-177)GTC>GCC	p.V59A	PSMA4_uc010blf.2_Missense_Mutation_p.V59A|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Missense_Mutation_p.V35A|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78837210	78837210	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78837210G>T	uc002bdu.3	+	6	446	c.288_splice	c.e6-1	p.R96_splice	PSMA4_uc010blf.2_Splice_Site_p.R96_splice|PSMA4_uc002bdv.3_Splice_Site_p.R25_splice|PSMA4_uc002bdw.3_Splice_Site_p.R72_splice|PSMA4_uc002bdx.3_Splice_Site_p.R25_splice	NM_002789	NP_002780			proteasome alpha 4 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78841185	78841185	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78841185A>G	uc002bdu.3	+	9	843	c.685A>G	c.(685-687)AAA>GAA	p.K229E	PSMA4_uc010blf.2_Missense_Mutation_p.K229E|PSMA4_uc002bdv.3_Missense_Mutation_p.K158E|PSMA4_uc002bdw.3_Missense_Mutation_p.K205E|PSMA4_uc002bdx.3_Missense_Mutation_p.K158E	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	229					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78922159	78922159	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78922159T>C	uc002bed.1	-	5	600	c.488A>G	c.(487-489)GAC>GGC	p.D163G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	163	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0																		---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79288103	79288103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79288103C>T	uc002beq.2	-	21	3429	c.3054G>A	c.(3052-3054)ACG>ACA	p.T1018T	RASGRF1_uc002bep.2_Silent_p.T1002T|RASGRF1_uc010blm.1_Silent_p.T927T|RASGRF1_uc002ber.3_Silent_p.T1002T|RASGRF1_uc010unh.1_Silent_p.T413T|RASGRF1_uc002beo.2_Silent_p.T234T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1020					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79748674	79748674	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79748674C>T	uc002bew.1	+	2	260	c.185C>T	c.(184-186)GCC>GTC	p.A62V	KIAA1024_uc010unk.1_Missense_Mutation_p.A62V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	62						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749496	79749496	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79749496C>T	uc002bew.1	+	2	1082	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	KIAA1024_uc010unk.1_Missense_Mutation_p.A336V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	336						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
MTHFS	10588	broad.mit.edu	37	15	80137564	80137564	+	Silent	SNP	C	T	T	rs150067777	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80137564C>T	uc002bex.3	-	3	640	c.600G>A	c.(598-600)TCG>TCA	p.S200S	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	200					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)														---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80263396	80263396	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80263396C>T	uc002bfc.3	-	1	248	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	BCL2A1_uc002bfd.3_Silent_p.Q22Q	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	BCL2-related protein A1 isoform 1	22					anti-apoptosis|apoptosis	cytoplasm	protein binding			pancreas(1)	1																		---	---	---	---
KIAA1199	57214	broad.mit.edu	37	15	81241186	81241186	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81241186T>C	uc002bfw.1	+	29	4267	c.4007T>C	c.(4006-4008)GTG>GCG	p.V1336A	KIAA1199_uc010unn.1_Missense_Mutation_p.V1336A|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1336										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
MESDC2	23184	broad.mit.edu	37	15	81274436	81274436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81274436G>A	uc002bfy.1	-	2	374	c.301C>T	c.(301-303)CCT>TCT	p.P101S	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	101	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0																		---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598350	81598350	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81598350G>A	uc002bgh.3	+	17	3898	c.3522G>A	c.(3520-3522)ACG>ACA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1216T|IL16_uc002bgg.2_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.2_Silent_p.T668T|IL16_uc002bgk.2_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1174	PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81650613	81650613	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81650613A>G	uc002bgo.1	-	7	620	c.620T>C	c.(619-621)GTC>GCC	p.V207A	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.V207A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	207	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336468	82336468	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82336468A>G	uc002bgq.1	-	2	1058	c.743T>C	c.(742-744)GTG>GCG	p.V248A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	248					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575356	82575356	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82575356G>A	uc002bgv.2	+	3	1219	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	FAM154B_uc010unr.1_Missense_Mutation_p.G369S|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	384										skin(2)	2																		---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83240228	83240228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83240228G>A	uc002bit.2	-	3	562	c.425C>T	c.(424-426)GCG>GTG	p.A142V	CPEB1_uc002biq.2_Missense_Mutation_p.A7V|CPEB1_uc002bir.2_Missense_Mutation_p.A7V|CPEB1_uc002bis.2_Missense_Mutation_p.A7V|CPEB1_uc010uod.1_5'UTR|CPEB1_uc010uoe.1_Missense_Mutation_p.A85V|CPEB1_uc002biu.2_Missense_Mutation_p.A109V|CPEB1_uc010uof.1_Missense_Mutation_p.A7V|CPEB1_uc002biv.2_Missense_Mutation_p.A82V	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	82					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83456128	83456128	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83456128C>T	uc002bjd.2	-	2	182	c.15G>A	c.(13-15)TCG>TCA	p.S5S	FSD2_uc010uol.1_Silent_p.S5S|FSD2_uc010uom.1_Silent_p.S5S	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	5										central_nervous_system(1)	1																		---	---	---	---
WHAMM	123720	broad.mit.edu	37	15	83481966	83481966	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83481966T>C	uc002bje.2	+	2	1227	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	241						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0																		---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83677350	83677350	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83677350A>T	uc010uoo.1	-	3	350	c.316T>A	c.(316-318)TAT>AAT	p.Y106N	C15orf40_uc010uon.1_Missense_Mutation_p.Y106N|C15orf40_uc002bjm.2_Missense_Mutation_p.Y106N|C15orf40_uc010uop.1_Missense_Mutation_p.Y106N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.Y106N	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207 isoform d	79										skin(1)	1																		---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83710472	83710472	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83710472A>G	uc002bjn.2	-						BTBD1_uc002bjo.2_Intron	NM_025238	NP_079514			BTB (POZ) domain containing 1 isoform 1							cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)														---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805252	83805252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83805252G>A	uc002bjp.2	+	10	1050	c.941G>A	c.(940-942)GGT>GAT	p.G314D	TM6SF1_uc010bmq.2_Missense_Mutation_p.G283D|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Missense_Mutation_p.G166D	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	314						integral to membrane				ovary(1)	1																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83931934	83931934	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83931934C>A	uc002bjt.1	-	4	2157	c.2069G>T	c.(2068-2070)AGG>ATG	p.R690M	BNC1_uc010uos.1_Missense_Mutation_p.R678M	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	690					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
BNC1	646	broad.mit.edu	37	15	83932495	83932495	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83932495T>G	uc002bjt.1	-	4	1596	c.1508A>C	c.(1507-1509)AAC>ACC	p.N503T	BNC1_uc010uos.1_Missense_Mutation_p.N491T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	503					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164124	85164124	+	Missense_Mutation	SNP	G	A	A	rs147069559		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85164124G>A	uc002bkr.2	+	3	924	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	ZSCAN2_uc010bmz.1_Missense_Mutation_p.R231Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.R83Q|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	233	C2H2-type 1.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)														---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327807	85327807	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85327807G>A	uc002bld.2	+	4	2237	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	634	C2H2-type 2; atypical.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383526	85383526	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383526G>A	uc002ble.2	+	5	1789	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	541					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383680	85383680	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383680C>A	uc002ble.2	+	5	1943	c.1776C>A	c.(1774-1776)GCC>GCA	p.A592A		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	592					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85399886	85399886	+	Silent	SNP	G	A	A	rs141003674		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85399886G>A	uc002ble.2	+	6	2690	c.2523G>A	c.(2521-2523)ACG>ACA	p.T841T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	841					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438167	85438167	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85438167C>A	uc002blg.2	+						SLC28A1_uc010upd.1_Intron|SLC28A1_uc010bnb.2_Intron|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron|SLC28A1_uc002blf.2_Intron	NM_004213	NP_004204			solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659309	85659309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85659309G>A	uc002blh.2	+	16	1683	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*	PDE8A_uc002bli.2_Nonsense_Mutation_p.W452*|PDE8A_uc010bnc.2_Nonsense_Mutation_p.W251*|PDE8A_uc010bnd.2_Nonsense_Mutation_p.W251*|PDE8A_uc002blj.2_Nonsense_Mutation_p.W118*|PDE8A_uc002blk.2_Nonsense_Mutation_p.W118*	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	498					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122596	86122596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86122596C>T	uc002blv.1	+	7	1467	c.1297C>T	c.(1297-1299)CCC>TCC	p.P433S	AKAP13_uc002blt.1_Missense_Mutation_p.P433S|AKAP13_uc002blu.1_Missense_Mutation_p.P433S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697774	86697774	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86697774C>T	uc002blz.1	+	3	318	c.238C>T	c.(238-240)CGT>TGT	p.R80C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86790986	86790986	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86790986C>A	uc002blz.1	+	6	553	c.473C>A	c.(472-474)GCC>GAC	p.A158D		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	158					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678533	88678533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88678533A>G	uc002bme.1	-	9	1165	c.1003T>C	c.(1003-1005)TGG>CGG	p.W335R	NTRK3_uc002bmh.2_Missense_Mutation_p.W335R|NTRK3_uc002bmf.1_Missense_Mutation_p.W335R|NTRK3_uc010upl.1_Missense_Mutation_p.W237R|NTRK3_uc010bnh.1_Missense_Mutation_p.W335R|NTRK3_uc002bmg.2_Missense_Mutation_p.W335R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	335	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88726694	88726694	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88726694C>G	uc002bme.1	-	4	512	c.350G>C	c.(349-351)AGC>ACC	p.S117T	NTRK3_uc002bmh.2_Missense_Mutation_p.S117T|NTRK3_uc002bmf.1_Missense_Mutation_p.S117T|NTRK3_uc010upl.1_Missense_Mutation_p.S19T|NTRK3_uc010bnh.1_Missense_Mutation_p.S117T|NTRK3_uc002bmg.2_Missense_Mutation_p.S117T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	117	LRR 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
AEN	64782	broad.mit.edu	37	15	89169940	89169940	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89169940A>G	uc002bmt.2	+	2	651	c.500A>G	c.(499-501)CAC>CGC	p.H167R	AEN_uc010bnl.2_Missense_Mutation_p.H167R|AEN_uc010bnm.1_Missense_Mutation_p.H167R	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	167	Exonuclease.|Nuclear localization signal.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0																		---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89811723	89811723	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89811723T>C	uc010bnp.1	+	10	939	c.849T>C	c.(847-849)TAT>TAC	p.Y283Y	FANCI_uc002bnm.1_Silent_p.Y283Y|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Y104Y	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	283					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89844640	89844640	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89844640T>C	uc010bnp.1	+	27	3063	c.2973T>C	c.(2971-2973)AGT>AGC	p.S991S	FANCI_uc002bnm.1_Silent_p.S931S|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.S752S|FANCI_uc002bnq.1_Silent_p.S404S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	991					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
POLG	5428	broad.mit.edu	37	15	89864450	89864450	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89864450G>A	uc002bns.3	-	17	2922	c.2640C>T	c.(2638-2640)GCC>GCT	p.A880A	POLG_uc002bnr.3_Silent_p.A880A	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	880					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLG	5428	broad.mit.edu	37	15	89871936	89871936	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89871936C>T	uc002bns.3	-	5	1432	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	POLG_uc002bnr.3_Missense_Mutation_p.D384N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	384					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90128935	90128935	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90128935G>A	uc002boe.2	+							NM_152259	NP_689472			leucine-rich repeat kinase 1						cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90276280	90276280	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90276280C>T	uc002boj.2	+	13	1475	c.1374C>T	c.(1372-1374)TGC>TGT	p.C458C	WDR93_uc010bnr.2_Intron|WDR93_uc010upz.1_Silent_p.C175C	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	458					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90344794	90344794	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90344794G>A	uc002bop.3	-	11	1906	c.1614C>T	c.(1612-1614)GAC>GAT	p.D538D		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	538	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90349552G>A	uc002bop.3	-	2	555	c.263C>T	c.(262-264)ACG>ATG	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	88	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90802126	90802126	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90802126T>C	uc002bpd.1	+	10	1607	c.1319T>C	c.(1318-1320)CTT>CCT	p.L440P	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	440					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)															---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90902116	90902116	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90902116G>A	uc002bpk.3	+	3	324	c.138G>A	c.(136-138)GAG>GAA	p.E46E		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
BLM	641	broad.mit.edu	37	15	91292795	91292795	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91292795A>G	uc002bpr.2	+	3	394	c.297A>G	c.(295-297)ACA>ACG	p.T99T	BLM_uc010uqh.1_Silent_p.T99T|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.T99T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	99					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
BLM	641	broad.mit.edu	37	15	91293254	91293254	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91293254T>G	uc002bpr.2	+	3	853	c.756T>G	c.(754-756)GCT>GCG	p.A252A	BLM_uc010uqh.1_Silent_p.A252A|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.A252A	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	252					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
FES	2242	broad.mit.edu	37	15	91430451	91430451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91430451G>A	uc002bpv.2	+	5	615	c.519G>A	c.(517-519)GTG>GTA	p.V173V	FES_uc010uqj.1_Silent_p.V115V|FES_uc010uqk.1_Silent_p.V155V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V115V|FES_uc002bpx.2_Silent_p.V173V|FES_uc002bpy.2_Silent_p.V115V	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	173	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436381	91436381	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436381C>T	uc002bpv.2	+	15	1974	c.1878C>T	c.(1876-1878)TGC>TGT	p.C626C	FES_uc010uqj.1_Silent_p.C498C|FES_uc010uqk.1_Silent_p.C608C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Silent_p.C556C|FES_uc002bpy.2_Silent_p.C568C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	626	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
FES	2242	broad.mit.edu	37	15	91436956	91436956	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91436956A>T	uc002bpv.2	+	17	2214	c.2118A>T	c.(2116-2118)CGA>CGT	p.R706R	FES_uc010uqj.1_Silent_p.R578R|FES_uc010uqk.1_Silent_p.R688R|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.R565R|FES_uc002bpx.2_Silent_p.R636R|FES_uc002bpy.2_Silent_p.R648R	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	706	Protein kinase.			R->Q: Negligible effect on autophosphorylation and kinase activity.	axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91454609	91454609	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91454609G>A	uc010bnz.2	+						MAN2A2_uc010boa.2_3'UTR|MAN2A2_uc002bqc.2_Intron|MAN2A2_uc010uql.1_Intron|MAN2A2_uc010uqm.1_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113			mannosidase, alpha, class 2A, member 2						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91456571	91456571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91456571G>A	uc010bnz.2	+	18	2768	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	MAN2A2_uc002bqc.2_Missense_Mutation_p.A885T|MAN2A2_uc010uql.1_Missense_Mutation_p.A547T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A464T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	885					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91496278	91496278	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91496278T>C	uc002bqg.2	+	18	2761	c.2421_splice	c.e18+2	p.E807_splice	UNC45A_uc002bqd.2_Splice_Site_p.E792_splice|UNC45A_uc010uqr.1_Splice_Site_p.E199_splice|UNC45A_uc002bqi.2_Splice_Site_p.E85_splice|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141			smooth muscle cell associated protein-1 isoform						cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91504966	91504966	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91504966C>A	uc002bqj.2	+	9	1378	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	RCCD1_uc002bqk.2_Silent_p.T366T|RCCD1_uc002bql.2_Silent_p.T364T|RCCD1_uc010bob.2_Silent_p.T155T	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	366	RCC1 4.										0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
RCCD1	91433	broad.mit.edu	37	15	91505010	91505010	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91505010T>C	uc002bqj.2	+	9					RCCD1_uc002bqk.2_3'UTR|RCCD1_uc002bql.2_3'UTR|RCCD1_uc010bob.2_3'UTR	NM_033544	NP_291022			RCC1 domain containing 1												0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)															---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	T	T	rs148654261		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91769874C>T	uc002bqv.2	+	1	772	c.381C>T	c.(379-381)TTC>TTT	p.F127F	SV2B_uc002bqt.2_Silent_p.F127F|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	127	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)															---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981597	92981597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92981597A>G	uc002bra.2	+	4	460	c.305A>G	c.(304-306)AAG>AGG	p.K102R	ST8SIA2_uc002brb.2_Missense_Mutation_p.K81R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	102	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015547	93015547	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015547A>T	uc002brc.1	+	1	641	c.169A>T	c.(169-171)ATG>TTG	p.M57L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	57										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015736	93015736	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93015736A>G	uc002brc.1	+	1	830	c.358A>G	c.(358-360)AAC>GAC	p.N120D	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	120										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93482927	93482927	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93482927G>A	uc002bsp.2	+	7	1246	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	CHD2_uc002bsm.1_Missense_Mutation_p.R224Q|CHD2_uc002bsn.2_Missense_Mutation_p.R224Q|CHD2_uc002bso.1_Missense_Mutation_p.R224Q|CHD2_uc010urb.1_Missense_Mutation_p.R237Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	224					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93489068	93489068	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93489068T>C	uc002bsp.2	+	11	1746	c.1171T>C	c.(1171-1173)TCT>CCT	p.S391P	CHD2_uc002bsn.2_Missense_Mutation_p.S391P|CHD2_uc002bso.1_Missense_Mutation_p.S391P|CHD2_uc010urb.1_Missense_Mutation_p.S404P|CHD2_uc010bof.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	391	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93528799	93528799	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93528799T>C	uc002bsp.2	+	26	3884	c.3309T>C	c.(3307-3309)AGT>AGC	p.S1103S	CHD2_uc002bso.1_Silent_p.S1103S	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1103					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251247	99251247	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99251247G>T	uc002bul.2	+	2	601	c.551G>T	c.(550-552)GGG>GTG	p.G184V	IGF1R_uc010urq.1_Missense_Mutation_p.G184V|IGF1R_uc010bon.2_Missense_Mutation_p.G184V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	184					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99669820	99669820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99669820G>A	uc002bup.2	+	6	1375	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	SYNM_uc002buo.2_Missense_Mutation_p.V419I|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	419	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100692807	100692807	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100692807G>A	uc002bvv.1	-						ADAMTS17_uc002bvx.1_Intron	NM_139057	NP_620688			ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)														---	---	---	---
LINS1	55180	broad.mit.edu	37	15	101109963	101109963	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101109963T>A	uc002bwe.2	-	8	2045	c.1754A>T	c.(1753-1755)GAT>GTT	p.D585V	LINS1_uc002bwd.2_Missense_Mutation_p.D172V|LINS1_uc002bwf.2_Missense_Mutation_p.D585V|LINS1_uc002bwg.2_Missense_Mutation_p.D585V|LINS1_uc002bwh.2_Missense_Mutation_p.D585V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	585											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)															---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101434180	101434180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101434180C>A	uc002bwn.3	+	6	663	c.559C>A	c.(559-561)CTG>ATG	p.L187M	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	187					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438337	101438337	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101438337T>A	uc002bwn.3	+	8	934	c.830T>A	c.(829-831)GTG>GAG	p.V277E	ALDH1A3_uc010bpb.2_Missense_Mutation_p.V170E|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	277					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)													---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101719007	101719007	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101719007A>G	uc002bwt.1	-	4	1478	c.995T>C	c.(994-996)ATA>ACA	p.I332T	CHSY1_uc010usd.1_Missense_Mutation_p.I60T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	332	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102211755	102211755	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102211755T>C	uc002bxm.2	-	15	1956	c.1901A>G	c.(1900-1902)TAC>TGC	p.Y634C	TARSL2_uc002bxl.2_Missense_Mutation_p.Y179C|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	634					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358739	102358739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102358739C>T	uc010uts.1	+	1	350	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---
NPRL3	8131	broad.mit.edu	37	16	142647	142647	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:142647A>G	uc002cfr.2	-	11	1207	c.1108T>C	c.(1108-1110)TTG>CTG	p.L370L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L191L|NPRL3_uc010uub.1_Silent_p.L345L|NPRL3_uc010uuc.1_Silent_p.L292L|NPRL3_uc002cfs.1_Silent_p.L345L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	370							protein binding			ovary(1)	1																		---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	334558	334558	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:334558G>T	uc002cgn.1	+	7	1479	c.371G>T	c.(370-372)CGC>CTC	p.R124L	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.R124L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	124	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	336467	336467	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:336467A>G	uc002cgn.1	+	13	2342	c.1234A>G	c.(1234-1236)AAG>GAG	p.K412E	PDIA2_uc010bqt.1_Missense_Mutation_p.K257E|PDIA2_uc002cgo.1_Missense_Mutation_p.K412E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	412	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	425133	425133	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:425133T>A	uc002cgu.3	-	8	1568	c.1439A>T	c.(1438-1440)GAG>GTG	p.E480V	TMEM8A_uc002cgv.3_Missense_Mutation_p.E287V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	480	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3																		---	---	---	---
SOLH	6650	broad.mit.edu	37	16	597774	597774	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:597774C>T	uc002chi.2	+	4	1299	c.936C>T	c.(934-936)GCC>GCT	p.A312A	SOLH_uc002chh.1_Silent_p.A312A	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	312					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)																---	---	---	---
C16orf11	146325	broad.mit.edu	37	16	614329	614329	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:614329G>A	uc002chk.2	+	2	1314	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	345	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PIGQ	9091	broad.mit.edu	37	16	624233	624233	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:624233G>A	uc002cho.2	+	2	261	c.159G>A	c.(157-159)CGG>CGA	p.R53R	PIGQ_uc010bqw.2_Silent_p.R53R|PIGQ_uc002chm.2_Silent_p.R53R|PIGQ_uc002chn.2_Silent_p.R53R|PIGQ_uc010uui.1_Silent_p.R67R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	53					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	675985	675985	+	Silent	SNP	G	A	A	rs149195145	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:675985G>A	uc002chr.2	+	5	545	c.429G>A	c.(427-429)GCG>GCA	p.A143A	RAB40C_uc002chq.2_Silent_p.A124A	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)																---	---	---	---
WDR90	197335	broad.mit.edu	37	16	701681	701681	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:701681G>T	uc002cii.1	+	8	828	c.774G>T	c.(772-774)CCG>CCT	p.P258P	WDR90_uc002cig.1_Silent_p.P258P|WDR90_uc002cih.1_Silent_p.P258P|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	258										ovary(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	822937	822937	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:822937C>T	uc002cjz.1	-	11	2248	c.2248G>A	c.(2248-2250)GTC>ATC	p.V750I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	399	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	823198	823198	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:823198G>A	uc002cjz.1	-	10	2070	c.2070C>T	c.(2068-2070)AAC>AAT	p.N690N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	339	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---
SSTR5	6755	broad.mit.edu	37	16	1129571	1129571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1129571G>A	uc002ckq.2	+	1	791	c.703G>A	c.(703-705)GTG>ATG	p.V235M	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	235	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250495	1250495	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250495G>A	uc002cks.2	+	7	1291	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	CACNA1H_uc002ckt.2_Missense_Mutation_p.R348H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	348	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250577	1250577	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250577C>T	uc002cks.2	+						CACNA1H_uc002ckt.2_Intron	NM_021098	NP_066921			calcium channel, voltage-dependent, T type,						aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1260939	1260939	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1260939G>A	uc002cks.2	+	21	4439	c.4191G>A	c.(4189-4191)GTG>GTA	p.V1397V	CACNA1H_uc002ckt.2_Silent_p.V1397V|CACNA1H_uc002cku.2_Silent_p.V103V|CACNA1H_uc010brj.2_Silent_p.V103V|CACNA1H_uc002ckv.2_Silent_p.V103V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1397	III.|Helical; Name=S4 of repeat III; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1412121	1412121	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1412121C>A	uc002clm.2	+	6	435	c.400C>A	c.(400-402)CGG>AGG	p.R134R		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	134						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)																---	---	---	---
TMEM204	79652	broad.mit.edu	37	16	1584270	1584270	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1584270G>A	uc002cmc.2	+	2					IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_5'UTR|TMEM204_uc010brr.1_5'UTR	NM_024600	NP_078876			transmembrane protein 204						response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)																---	---	---	---
IGFALS	3483	broad.mit.edu	37	16	1840991	1840991	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1840991G>A	uc002cmy.2	-	2	1509	c.1428C>T	c.(1426-1428)GAC>GAT	p.D476D	IGFALS_uc010uvn.1_Silent_p.D514D|IGFALS_uc010uvo.1_Silent_p.D110D	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	476	LRR 17.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2140480	2140480	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2140480G>A	uc002cos.1	-	45	12459	c.12250C>T	c.(12250-12252)CCC>TCC	p.P4084S	PKD1_uc002cot.1_Missense_Mutation_p.P4083S|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4084	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2147934	2147934	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2147934C>T	uc002cos.1	-	31	10311	c.10102G>A	c.(10102-10104)GAC>AAC	p.D3368N	PKD1_uc002cot.1_Missense_Mutation_p.D3368N|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3368	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2160411	2160411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2160411T>A	uc002cos.1	-	15	4966	c.4757A>T	c.(4756-4758)GAC>GTC	p.D1586V	PKD1_uc002cot.1_Missense_Mutation_p.D1586V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1586	PKD 11.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2164608	2164608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2164608C>T	uc002cos.1	-	11	2625	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	PKD1_uc002cot.1_Missense_Mutation_p.V806M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	806	PKD 2.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2333349	2333349	+	Nonsense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2333349G>C	uc002cpy.1	-	26	4585	c.3873C>G	c.(3871-3873)TAC>TAG	p.Y1291*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y1233*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1291					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)																---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546590	2546590	+	Silent	SNP	C	T	T	rs149371169	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2546590C>T	uc002cql.2	+	2	581	c.441C>T	c.(439-441)GAC>GAT	p.D147D	TBC1D24_uc002cqk.2_Silent_p.D147D|TBC1D24_uc002cqm.2_Silent_p.D147D|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	147	Rab-GAP TBC.		D -> H (in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons).		neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0																		---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2752389	2752389	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2752389C>T	uc002crd.2	+	5	640	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	195					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2812491	2812491	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2812491A>G	uc002crk.2	+	11	2511	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R	SRRM2_uc002crj.1_Silent_p.R558R|SRRM2_uc002crl.1_Silent_p.R654R|SRRM2_uc010bsu.1_Silent_p.R558R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	654	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813516	2813516	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2813516A>G	uc002crk.2	+	11	3536	c.2987A>G	c.(2986-2988)TAC>TGC	p.Y996C	SRRM2_uc002crj.1_Missense_Mutation_p.Y900C|SRRM2_uc002crl.1_Missense_Mutation_p.Y996C|SRRM2_uc010bsu.1_Missense_Mutation_p.Y900C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	996	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2814127	2814127	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2814127C>T	uc002crk.2	+	11	4147	c.3598C>T	c.(3598-3600)CTG>TTG	p.L1200L	SRRM2_uc002crj.1_Silent_p.L1104L|SRRM2_uc002crl.1_Silent_p.L1200L|SRRM2_uc010bsu.1_Silent_p.L1104L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3107401	3107401	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3107401T>C	uc002cth.2	+						uc002ctj.1_Intron	NM_022468	NP_071913			matrix metalloproteinase 25 preproprotein						inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3169666	3169666	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3169666C>A	uc002cub.2	+	7	1140	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	ZNF205_uc002cua.2_Silent_p.P335P	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3170039	3170039	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3170039C>T	uc002cub.2	+	7	1513	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ZNF205_uc002cua.2_Missense_Mutation_p.R460C	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	460	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254364	3254364	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3254364C>A	uc010uwu.1	+	1	118	c.118C>A	c.(118-120)CTG>ATG	p.L40M		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3293638	3293638	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3293638G>T	uc002cun.1	-	10	1889	c.1849C>A	c.(1849-1851)CTG>ATG	p.L617M		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	617	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)													---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3632367	3632367	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3632367G>A	uc002cvp.2	-	15	6108	c.5481C>T	c.(5479-5481)GGC>GGT	p.G1827G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1827	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3656564	3656564	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3656564A>G	uc002cvp.2	-	3	1298	c.671T>C	c.(670-672)TTG>TCG	p.L224S	BTBD12_uc002cvq.1_Missense_Mutation_p.L224S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	224	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
BTBD12	84464	broad.mit.edu	37	16	3658827	3658827	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3658827A>G	uc002cvp.2	-	2	766	c.139T>C	c.(139-141)TCT>CCT	p.S47P	BTBD12_uc002cvq.1_Missense_Mutation_p.S47P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	47	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3740920	3740920	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3740920C>A	uc002cvt.3	-	2	244	c.155G>T	c.(154-156)AGC>ATC	p.S52I	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	52					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)														OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778617	3778617	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3778617G>A	uc002cvv.2	-	31	6635	c.6431C>T	c.(6430-6432)GCC>GTC	p.A2144V	CREBBP_uc002cvw.2_Missense_Mutation_p.A2106V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2144					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843433	3843433	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3843433G>A	uc002cvv.2	-	4	1374	c.1170C>T	c.(1168-1170)AAC>AAT	p.N390N	CREBBP_uc002cvw.2_Silent_p.N390N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	390	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4029168	4029168	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4029168G>A	uc002cvx.2	-	8	3167	c.2628C>T	c.(2626-2628)CCC>CCT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	876	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164493	4164493	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164493A>G	uc002cvx.2	-	2	1490	c.951T>C	c.(949-951)ATT>ATC	p.I317I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	317	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4164997	4164997	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4164997C>T	uc002cvx.2	-	2	986	c.447G>A	c.(445-447)GCG>GCA	p.A149A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	149	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6																		---	---	---	---
SRL	6345	broad.mit.edu	37	16	4242609	4242609	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4242609C>T	uc002cvz.3	-	6	980	c.967G>A	c.(967-969)GAG>AAG	p.E323K	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	782						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308190	4308190	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308190C>A	uc010uxg.1	-	7	1137	c.883G>T	c.(883-885)GCT>TCT	p.A295S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	295					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4308199	4308199	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4308199G>C	uc010uxg.1	-	7	1128	c.874C>G	c.(874-876)CAG>GAG	p.Q292E		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	292					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4409546	4409546	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4409546C>T	uc002cwh.3	-	22	2305	c.2185G>A	c.(2185-2187)GTG>ATG	p.V729M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.V729M|CORO7_uc002cwg.3_Missense_Mutation_p.V509M|CORO7_uc010uxh.1_Missense_Mutation_p.V711M|CORO7_uc010uxi.1_Missense_Mutation_p.V644M|CORO7_uc002cwi.1_Missense_Mutation_p.V509M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	729	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4438557	4438557	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4438557C>T	uc002cwh.3	-	8	811	c.691G>A	c.(691-693)GGA>AGA	p.G231R	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.G231R|CORO7_uc002cwg.3_Missense_Mutation_p.G11R|CORO7_uc010uxh.1_Missense_Mutation_p.G213R|CORO7_uc010uxi.1_Missense_Mutation_p.G146R|CORO7_uc002cwi.1_Missense_Mutation_p.G11R|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.G11R	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	231	WD 4.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																		---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4780145	4780145	+	Silent	SNP	G	A	A	rs145030609	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4780145G>A	uc002cxj.1	-	3	301	c.6C>T	c.(4-6)TCC>TCT	p.S2S	ANKS3_uc002cxi.1_5'Flank|ANKS3_uc002cxk.2_5'UTR|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Intron|ANKS3_uc002cxm.2_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	2											0																		---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4815990	4815990	+	5'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4815990G>T	uc002cxp.1	-	2					ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_5'UTR	NM_021646	NP_067678			zinc finger protein 500						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4847966	4847966	+	Missense_Mutation	SNP	G	A	A	rs147170560		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4847966G>A	uc002cxv.2	-	9	770	c.668C>T	c.(667-669)GCG>GTG	p.A223V	ROGDI_uc002cxu.2_Missense_Mutation_p.A133V|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A133V	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	223						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4851560	4851560	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4851560C>A	uc002cxv.2	-	3	246	c.144G>T	c.(142-144)CCG>CCT	p.P48P	ROGDI_uc002cxu.2_5'UTR|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_5'UTR|ROGDI_uc010bub.1_RNA	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	48						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4908571	4908571	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4908571T>C	uc002cyb.2	+	4	678	c.339T>C	c.(337-339)GGT>GGC	p.G113G	UBN1_uc010uxw.1_Silent_p.G113G|UBN1_uc002cyc.2_Silent_p.G113G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	113	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4920857	4920857	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4920857G>A	uc002cyb.2	+	11	1782	c.1443G>A	c.(1441-1443)GAG>GAA	p.E481E	UBN1_uc010uxw.1_Silent_p.E481E|UBN1_uc002cyc.2_Silent_p.E481E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5056027	5056027	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5056027A>T	uc002cye.2	+	12	1595	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	472	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8722970	8722970	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8722970A>G	uc002cyz.2	+						C16orf68_uc002cza.2_Intron	NM_024109	NP_077014			hypothetical protein LOC79091								methyltransferase activity				0																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8735041	8735041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8735041G>T	uc002cyz.2	+	7	1102	c.826G>T	c.(826-828)GAT>TAT	p.D276Y	C16orf68_uc002cza.2_Missense_Mutation_p.D220Y	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	276							methyltransferase activity				0																		---	---	---	---
PMM2	5373	broad.mit.edu	37	16	8900242	8900242	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8900242A>G	uc002czf.3	+	4	395	c.325A>G	c.(325-327)AAA>GAA	p.K109E	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.K26E|PMM2_uc010uyh.1_Intron|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Intron|PMM2_uc010uye.1_Missense_Mutation_p.K109E	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	109					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1																		---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8952326	8952326	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8952326C>T	uc002czh.1	-	3	512	c.162G>A	c.(160-162)ACG>ACA	p.T54T	PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Silent_p.T54T	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN	calcium-regulated heat-stable protein 1	54					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding				0																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8988948C>T	uc002czl.2	-	28	3178	c.2979G>A	c.(2977-2979)GCG>GCA	p.A993A	USP7_uc010uyk.1_Silent_p.A894A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.A894A|USP7_uc002czk.2_Silent_p.A977A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3																		---	---	---	---
NUBP1	4682	broad.mit.edu	37	16	10846529	10846529	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10846529A>G	uc002daa.1	+	4	344	c.321A>G	c.(319-321)GGA>GGG	p.G107G	NUBP1_uc010bum.1_Missense_Mutation_p.R14G|NUBP1_uc002dab.1_Silent_p.G107G	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	107					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11001075	11001075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11001075G>A	uc002dai.3	+	11	1859	c.1726G>A	c.(1726-1728)GCA>ACA	p.A576T	CIITA_uc002daj.3_Missense_Mutation_p.A577T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A576T|CIITA_uc002dah.2_Missense_Mutation_p.A528T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	576	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217761	11217761	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11217761G>T	uc002dao.2	+	21	2661	c.2431G>T	c.(2431-2433)GGC>TGC	p.G811C	CLEC16A_uc002dan.3_Missense_Mutation_p.G793C|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	811										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11941581	11941581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11941581T>C	uc002dbp.1	-	3	401	c.328A>G	c.(328-330)ACA>GCA	p.T110A	RSL1D1_uc010buv.1_Missense_Mutation_p.T110A|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	110					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12450122	12450122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12450122G>A	uc002dby.3	+	9	786	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14020418	14020418	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14020418G>A	uc002dce.2	+	3	398	c.389G>A	c.(388-390)GGC>GAC	p.G130D	ERCC4_uc010bva.2_Missense_Mutation_p.G130D	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	130					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14041574	14041574	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14041574A>G	uc002dce.2	+	11	2130	c.2121A>G	c.(2119-2121)GAA>GAG	p.E707E	ERCC4_uc010uyz.1_Silent_p.E257E	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	707	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14951484	14951484	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14951484C>T	uc002dcv.2	+	11	1258	c.1192C>T	c.(1192-1194)CCT>TCT	p.P398S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	398	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14988844	14988844	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14988844G>A	uc002dcv.2	+							NM_014287	NP_055102			nodal modulator 1 precursor							integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---
NTAN1	123803	broad.mit.edu	37	16	15131997	15131997	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15131997A>T	uc002ddd.2	-	10	829	c.824T>A	c.(823-825)TTA>TAA	p.L275*	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Nonsense_Mutation_p.L170*	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	275						cytoplasm					0																		---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15180276	15180276	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15180276A>G	uc002dde.2	-	4	356	c.288T>C	c.(286-288)CGT>CGC	p.R96R	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_5'UTR|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Silent_p.R96R	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15719361	15719361	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15719361T>C	uc002ddr.2	-	8	2014	c.1821A>G	c.(1819-1821)AAA>AAG	p.K607K	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Silent_p.K603K|KIAA0430_uc010uzw.1_Silent_p.K605K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	606						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15815483	15815483	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15815483G>T	uc002ddy.2	-	32	4481	c.4374C>A	c.(4372-4374)GCC>GCA	p.A1458A	MYH11_uc002ddv.2_Silent_p.A1465A|MYH11_uc002ddw.2_Silent_p.A1458A|MYH11_uc002ddx.2_Silent_p.A1465A|MYH11_uc010bvg.2_Silent_p.A1290A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A164A|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1458	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16139870	16139870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16139870G>A	uc010bvi.2	+	9	1393	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	ABCC1_uc010bvj.2_Silent_p.K406K|ABCC1_uc010bvk.2_Silent_p.K406K|ABCC1_uc010bvl.2_Silent_p.K406K|ABCC1_uc010bvm.2_Silent_p.K406K|ABCC1_uc002del.3_Silent_p.K290K|ABCC1_uc010bvn.2_Silent_p.K269K	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	406	Cytoplasmic.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16208879	16208879	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16208879G>A	uc010bvi.2	+	23	3511	c.3336G>A	c.(3334-3336)ACG>ACA	p.T1112T	ABCC1_uc010bvj.2_Silent_p.T1053T|ABCC1_uc010bvk.2_Silent_p.T1056T|ABCC1_uc010bvl.2_Silent_p.T1112T|ABCC1_uc010bvm.2_Silent_p.T997T|ABCC1_uc002del.3_Silent_p.T1006T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1112	Helical; Name=15.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16257015	16257015	+	Missense_Mutation	SNP	C	T	T	rs63750427		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16257015C>T	uc002den.3	-	24	3378	c.3341G>A	c.(3340-3342)CGC>CAC	p.R1114H	ABCC6_uc010bvo.2_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1114	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		R -> P (in PXE; autosomal recessive).		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16302603	16302603	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16302603T>C	uc002den.3	-	7	813	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.N271S	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	259	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17228514	17228514	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17228514A>G	uc002dfa.2	-	9	1928	c.1843T>C	c.(1843-1845)TAC>CAC	p.Y615H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	615	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---
NOMO2	283820	broad.mit.edu	37	16	18542829	18542829	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18542829A>G	uc002dfe.2	-	13	1568	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	NOMO2_uc002dff.2_Missense_Mutation_p.V499A|NOMO2_uc010bvx.2_Missense_Mutation_p.V332A	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1																		---	---	---	---
ARL6IP1	23204	broad.mit.edu	37	16	18806808	18806808	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18806808A>C	uc002dfl.1	-	4	455	c.386T>G	c.(385-387)CTA>CGA	p.L129R	ARL6IP1_uc010van.1_Missense_Mutation_p.L100R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	129						integral to membrane	protein binding				0																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847478	18847478	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18847478A>G	uc002dfm.2	-	48	8197	c.7834T>C	c.(7834-7836)TTG>CTG	p.L2612L	SMG1_uc010bwb.2_Silent_p.L2472L|SMG1_uc010bwa.2_Silent_p.L1343L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2612					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18896923	18896923	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18896923A>G	uc002dfm.2	-	7	1251	c.888T>C	c.(886-888)TGT>TGC	p.C296C	SMG1_uc010bwb.2_Silent_p.C156C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	296	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126792	19126792	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126792C>A	uc002dfu.3	+	1	1539	c.1009C>A	c.(1009-1011)CTC>ATC	p.L337I	ITPRIPL2_uc002dft.2_Missense_Mutation_p.L33I	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	337	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126815	19126815	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126815G>T	uc002dfu.3	+	1	1562	c.1032G>T	c.(1030-1032)GAG>GAT	p.E344D	ITPRIPL2_uc002dft.2_Missense_Mutation_p.E40D	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	344	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																		---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19195180G>A	uc002dfw.2	+	5	993	c.662G>A	c.(661-663)CGC>CAC	p.R221H	SYT17_uc002dfx.2_Missense_Mutation_p.R160H|SYT17_uc002dfy.2_Missense_Mutation_p.R217H|SYT17_uc002dfv.1_Missense_Mutation_p.R160H	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	221	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1																		---	---	---	---
CP110	9738	broad.mit.edu	37	16	19548587	19548587	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19548587G>A	uc002dgl.3	+	4	1843	c.1596G>A	c.(1594-1596)GAG>GAA	p.E532E	CP110_uc002dgk.3_Silent_p.E532E			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	532	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19627476	19627476	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19627476A>G	uc002dgn.1	+	13	1076	c.1064A>G	c.(1063-1065)AAT>AGT	p.N355S	C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Missense_Mutation_p.N104S|C16orf62_uc002dgm.1_Missense_Mutation_p.N355S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	355						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19639135	19639135	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19639135C>A	uc002dgn.1	+						C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Intron	NM_020314	NP_064710			hypothetical protein LOC57020							integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19680566	19680566	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19680566A>T	uc002dgn.1	+	27	2318	c.2306A>T	c.(2305-2307)GAA>GTA	p.E769V	C16orf62_uc002dgo.1_Missense_Mutation_p.E676V|C16orf62_uc002dgp.1_Missense_Mutation_p.E518V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	769						integral to membrane				ovary(1)	1																		---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19710844	19710844	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19710844G>A	uc002dgn.1	+	30	2679	c.2667G>A	c.(2665-2667)TCG>TCA	p.S889S	C16orf62_uc002dgo.1_Silent_p.S796S|C16orf62_uc002dgp.1_Silent_p.S638S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	889						integral to membrane				ovary(1)	1																		---	---	---	---
GP2	2813	broad.mit.edu	37	16	20330936	20330936	+	Intron	SNP	C	T	T	rs72776648	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20330936C>T	uc002dgv.2	-						GP2_uc002dgw.2_Intron|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241			zymogen granule membrane glycoprotein 2 isoform							anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20352615	20352615	+	Missense_Mutation	SNP	G	A	A	rs139607138	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20352615G>A	uc002dgz.2	-	7	1504	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	UMOD_uc002dha.2_Missense_Mutation_p.R459W|UMOD_uc002dhb.2_Missense_Mutation_p.R492W	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20386160	20386160	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20386160A>G	uc002dhc.1	-	5	888	c.665T>C	c.(664-666)GTC>GCC	p.V222A		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	222					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1																		---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20851156	20851156	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20851156T>A	uc002dhv.2	+	14	1726	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V488D|LOC81691_uc002dhw.2_Missense_Mutation_p.V231D|LOC81691_uc002dhy.3_Missense_Mutation_p.V488D	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	488						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975196	20975196	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20975196G>A	uc010vbe.1	-	53	10010	c.10010C>T	c.(10009-10011)ACG>ATG	p.T3337M	DNAH3_uc010vbd.1_Missense_Mutation_p.T772M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21031117	21031117	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21031117G>A	uc010vbe.1	-	41	5851	c.5851C>T	c.(5851-5853)CTC>TTC	p.L1951F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1951					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21061243	21061243	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21061243G>T	uc010vbe.1	-	30	4335	c.4335C>A	c.(4333-4335)GCC>GCA	p.A1445A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1445	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21086796	21086796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21086796G>A	uc010vbe.1	-	21	3056	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1019	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21273385	21273385	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21273385C>A	uc002dik.2	-	6	853	c.768G>T	c.(766-768)AAG>AAT	p.K256N	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K214N|CRYM_uc002dim.2_Missense_Mutation_p.K256N	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	256					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)													---	---	---	---
METTL9	51108	broad.mit.edu	37	16	21624098	21624098	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21624098T>C	uc002dje.2	+	2	497	c.298T>C	c.(298-300)TAT>CAT	p.Y100H	uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.Y100H	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	100										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)														---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22151568	22151568	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22151568A>G	uc010vbq.1	+						VWA3A_uc010bxd.2_Intron	NM_173615	NP_775886			von Willebrand factor A domain containing 3A							extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)														---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22335840	22335840	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22335840T>C	uc002dkk.2	+	16	1301	c.1145T>C	c.(1144-1146)GTG>GCG	p.V382A	POLR3E_uc002dkj.1_Missense_Mutation_p.V382A|POLR3E_uc002dkm.2_Missense_Mutation_p.V346A|POLR3E_uc010vbr.1_Missense_Mutation_p.V382A|POLR3E_uc002dkl.2_Missense_Mutation_p.V382A|POLR3E_uc010vbs.1_Missense_Mutation_p.V346A|POLR3E_uc010vbt.1_Missense_Mutation_p.V326A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	382					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)														---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926539	22926539	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079803	23079803	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079803C>A	uc002dll.2	-	16	3623	c.3623G>T	c.(3622-3624)AGC>ATC	p.S1208I	USP31_uc002dlk.2_Missense_Mutation_p.S480I|USP31_uc010vca.1_Missense_Mutation_p.S511I|USP31_uc010bxm.2_Missense_Mutation_p.S496I	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1208	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079919	23079919	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079919G>A	uc002dll.2	-	16	3507	c.3507C>T	c.(3505-3507)AGC>AGT	p.S1169S	USP31_uc002dlk.2_Silent_p.S441S|USP31_uc010vca.1_Silent_p.S472S|USP31_uc010bxm.2_Silent_p.S457S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1169	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080308	23080308	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23080308G>A	uc002dll.2	-	16	3118	c.3118C>T	c.(3118-3120)CGG>TGG	p.R1040W	USP31_uc002dlk.2_Missense_Mutation_p.R312W|USP31_uc010vca.1_Missense_Mutation_p.R343W|USP31_uc010bxm.2_Missense_Mutation_p.R328W	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1040	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23208672	23208672	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23208672A>G	uc002dlm.1	+	6	1140	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	334	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23223385	23223385	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23223385A>G	uc002dlm.1	+	8	1346	c.1207A>G	c.(1207-1209)ATG>GTG	p.M403V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	403	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23366710	23366710	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23366710A>G	uc002dln.2	+	4	852	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	226	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23383173	23383173	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23383173A>G	uc002dln.2	+	7	1297	c.1121A>G	c.(1120-1122)TAC>TGC	p.Y374C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	374	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
COG7	91949	broad.mit.edu	37	16	23453914	23453914	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23453914A>G	uc002dlo.2	-	4	676	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	163					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
NDUFAB1	4706	broad.mit.edu	37	16	23607444	23607444	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23607444C>A	uc002dlw.2	-	1	196	c.168G>T	c.(166-168)CAG>CAT	p.Q56H		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	56					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24046880	24046880	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24046880T>C	uc002dmd.2	+						PRKCB_uc002dme.2_Intron	NM_212535	NP_997700			protein kinase C, beta isoform 1						apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192144	24192144	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24192144T>C	uc002dmd.2	+	13	1625	c.1428T>C	c.(1426-1428)TCT>TCC	p.S476S	PRKCB_uc002dme.2_Silent_p.S476S	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	476	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24578545	24578545	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24578545A>T	uc002dmh.2	+	15	2711	c.1671A>T	c.(1669-1671)GTA>GTT	p.V557V	RBBP6_uc010vcb.1_Silent_p.V424V|RBBP6_uc002dmi.2_Silent_p.V557V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V424V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581095	24581095	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24581095G>A	uc002dmh.2	+	17	4124	c.3084G>A	c.(3082-3084)GTG>GTA	p.V1028V	RBBP6_uc010vcb.1_Silent_p.V895V|RBBP6_uc002dmi.2_Silent_p.V994V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.V861V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1028	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802947	24802947	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24802947T>C	uc002dmm.2	+	6	3098	c.2984T>C	c.(2983-2985)ATA>ACA	p.I995T	TNRC6A_uc010bxs.2_Missense_Mutation_p.I742T|TNRC6A_uc010vcc.1_Missense_Mutation_p.I742T|TNRC6A_uc002dmn.2_Missense_Mutation_p.I742T|TNRC6A_uc002dmo.2_Missense_Mutation_p.I742T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	995	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24919375	24919375	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24919375T>G	uc002dmu.2	+	13	1589	c.1357T>G	c.(1357-1359)TCC>GCC	p.S453A	SLC5A11_uc002dms.2_Missense_Mutation_p.S389A|SLC5A11_uc010vcd.1_Missense_Mutation_p.S418A|SLC5A11_uc002dmt.2_Missense_Mutation_p.S297A|SLC5A11_uc010vce.1_Missense_Mutation_p.S383A|SLC5A11_uc010bxt.2_Missense_Mutation_p.S389A|SLC5A11_uc002dmv.2_Missense_Mutation_p.S76A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	453	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24922695	24922695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24922695G>A	uc002dmu.2	+	16	2101	c.1869G>A	c.(1867-1869)TGG>TGA	p.W623*	SLC5A11_uc002dms.2_Nonsense_Mutation_p.W559*|SLC5A11_uc010vcd.1_Nonsense_Mutation_p.W588*|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.W467*|SLC5A11_uc010vce.1_Nonsense_Mutation_p.W553*|SLC5A11_uc010bxt.2_Nonsense_Mutation_p.W559*|SLC5A11_uc002dmv.2_Nonsense_Mutation_p.W246*	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	623	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24950789	24950789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24950789T>C	uc002dnb.2	-	17	1713	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.P64P|ARHGAP17_uc002dna.2_Silent_p.P267P|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	540	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24955129	24955129	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24955129T>C	uc002dnb.2	-	15	1389	c.1296A>G	c.(1294-1296)GAA>GAG	p.E432E	ARHGAP17_uc002dna.2_Silent_p.E159E|ARHGAP17_uc002dnc.2_Silent_p.E432E|ARHGAP17_uc010vcf.1_Silent_p.E253E	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	432	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27374122	27374122	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27374122T>G	uc002don.2	+	11	1691	c.1449T>G	c.(1447-1449)ACT>ACG	p.T483T	IL4R_uc002dop.3_Silent_p.T468T|IL4R_uc010bxy.2_Silent_p.T483T|IL4R_uc002doo.2_Silent_p.T323T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	483	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2																		---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27454346	27454346	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27454346G>A	uc002doq.1	+	5	649	c.416G>A	c.(415-417)CGC>CAC	p.R139H	IL21R_uc002dor.1_Missense_Mutation_p.R139H|IL21R_uc002dos.1_Missense_Mutation_p.R139H	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	139	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4								T	BCL6	NHL								---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27499693	27499693	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27499693G>A	uc002dov.1	-	23	3595	c.3555C>T	c.(3553-3555)TCC>TCT	p.S1185S	GTF3C1_uc002dou.2_Silent_p.S1185S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1185						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27689178	27689178	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27689178G>A	uc002dow.2	+	7	693	c.669G>A	c.(667-669)GTG>GTA	p.V223V	KIAA0556_uc002dox.1_Silent_p.V131V	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	223										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27761012	27761012	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27761012C>T	uc002dow.2	+	16	2755	c.2731C>T	c.(2731-2733)CGG>TGG	p.R911W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	911										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28604874	28604874	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28604874G>A	uc002dqg.1	-	5	739	c.388C>T	c.(388-390)CGC>TGC	p.R130C	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.R130C	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	130	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844210	28844210	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844210T>C	uc002drc.2	+	13	1827	c.1659_splice	c.e13+2	p.K553_splice	uc010vct.1_Intron|ATXN2L_uc010byl.1_Splice_Site_p.K529_splice|ATXN2L_uc002drb.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqy.2_Splice_Site_p.K553_splice|ATXN2L_uc002dra.2_Splice_Site_p.K553_splice|ATXN2L_uc002dqz.2_Splice_Site_p.K553_splice|ATXN2L_uc010vdb.1_Splice_Site_p.K559_splice|ATXN2L_uc002dre.2_Splice_Site_p.K553_splice|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844557	28844557	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28844557G>A	uc002drc.2	+	14	2005	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.A589T|ATXN2L_uc002drb.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A613T|ATXN2L_uc002dra.2_Missense_Mutation_p.A613T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A613T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A619T|ATXN2L_uc002dre.2_Missense_Mutation_p.A613T|ATXN2L_uc002drf.2_Missense_Mutation_p.A22T|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	613						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28845679	28845679	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28845679C>A	uc002drc.2	+	17	2356	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqy.2_Missense_Mutation_p.P730T|ATXN2L_uc002dra.2_Missense_Mutation_p.P730T|ATXN2L_uc002dqz.2_Missense_Mutation_p.P730T|ATXN2L_uc010vdb.1_Missense_Mutation_p.P736T|ATXN2L_uc002dre.2_Missense_Mutation_p.P730T|ATXN2L_uc002drf.2_Missense_Mutation_p.P139T|ATXN2L_uc002drg.2_Missense_Mutation_p.P12T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	730						membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847720	28847720	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28847720G>A	uc002drc.2	+	22					uc010vct.1_Intron|ATXN2L_uc002drb.2_Intron|ATXN2L_uc002dqy.2_Silent_p.P1071P|ATXN2L_uc002dra.2_Intron|ATXN2L_uc002dqz.2_Intron|ATXN2L_uc010vdb.1_Intron|ATXN2L_uc002dre.2_Intron|ATXN2L_uc002drf.2_3'UTR|ATXN2L_uc002drg.2_3'UTR	NM_007245	NP_009176			ataxin 2 related protein isoform A							membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28883270	28883270	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28883270C>T	uc002dri.2	+	8	1918	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P183P|SH2B1_uc002drj.2_Silent_p.P493P|SH2B1_uc002drk.2_Silent_p.P493P|SH2B1_uc002drl.2_Silent_p.P493P|SH2B1_uc010vdd.1_Silent_p.P157P|SH2B1_uc010vde.1_Silent_p.P493P|SH2B1_uc002drm.2_Silent_p.P493P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	493	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28916347	28916347	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28916347G>A	uc002drq.2	-	13	1675	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.R472C|RABEP2_uc010byn.2_Missense_Mutation_p.R507C	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	543					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931258	28931258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28931258A>G	uc002drq.2	-	3	329	c.281T>C	c.(280-282)ATC>ACC	p.I94T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.I23T|RABEP2_uc010byn.2_Missense_Mutation_p.I94T|RABEP2_uc002drr.2_Missense_Mutation_p.I94T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	94	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28995608	28995608	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28995608T>C	uc010vdi.1	+	13	1715	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.S452S|SPNS1_uc002dsa.2_Silent_p.S525S|SPNS1_uc002drz.2_Silent_p.S473S|SPNS1_uc010byp.2_Silent_p.S451S|SPNS1_uc010byq.1_Missense_Mutation_p.V400A|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	525					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0																		---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825671	29825671	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29825671G>A	uc002due.3	+	3	1198	c.897G>A	c.(895-897)CAG>CAA	p.Q299Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Silent_p.Q299Q|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	299	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0																		---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891331	29891331	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29891331G>T	uc002duq.3	-	9	1667	c.1427C>A	c.(1426-1428)ACC>AAC	p.T476N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dur.3_Missense_Mutation_p.T406N|SEZ6L2_uc002dus.3_Missense_Mutation_p.T362N|SEZ6L2_uc010vec.1_Missense_Mutation_p.T476N|SEZ6L2_uc010ved.1_Missense_Mutation_p.T432N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	476	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29990778	29990778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29990778T>C	uc002dva.1	+	8	1387	c.604T>C	c.(604-606)TAC>CAC	p.Y202H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvc.1_Missense_Mutation_p.Y202H|TAOK2_uc010bzm.1_Missense_Mutation_p.Y202H|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	202	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29992970	29992970	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29992970C>T	uc002dva.1	+						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Intron|TAOK2_uc002dvd.1_Missense_Mutation_p.P42L	NM_016151	NP_057235			TAO kinase 2 isoform 2						actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
DOC2A	8448	broad.mit.edu	37	16	30017638	30017638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30017638C>T	uc002dvm.2	-	11	1172	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.G356R|DOC2A_uc002dvn.2_Missense_Mutation_p.G358R|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.G358R|DOC2A_uc002dvp.2_Missense_Mutation_p.G358R|DOC2A_uc002dvq.2_Missense_Mutation_p.G358R	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	358	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2																		---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364758	30364758	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30364758A>G	uc002dxr.2	-	4	992	c.739T>C	c.(739-741)TCC>CCC	p.S247P	CD2BP2_uc002dxs.2_Missense_Mutation_p.S247P	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	247					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30507514	30507514	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30507514G>A	uc002dyi.3	+	14	1776	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	ITGAL_uc002dyj.3_Missense_Mutation_p.D451N|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	534	Potential.|FG-GAP 6.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536163	30536163	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30536163T>C	uc002dyk.3	-	2	1474	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G	ZNF768_uc010vex.1_Missense_Mutation_p.E402G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E402G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	433	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30620959	30620959	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30620959C>T	uc002dyx.2	-	2	526	c.206G>A	c.(205-207)GGG>GAG	p.G69E	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30734045	30734045	+	Missense_Mutation	SNP	A	C	C	rs150246733	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30734045A>C	uc002dze.1	+	23	4253	c.3868A>C	c.(3868-3870)AGC>CGC	p.S1290R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S860R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1290	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30750183	30750183	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30750183G>A	uc002dze.1	+	34	9207	c.8822G>A	c.(8821-8823)CGA>CAA	p.R2941Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2736Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2941	Pro-rich.|A.T hook 2.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990644	30990644	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30990644G>A	uc002ead.1	+	14	4223	c.3537G>A	c.(3535-3537)CCG>CCA	p.P1179P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---
HSD3B7	80270	broad.mit.edu	37	16	30997914	30997914	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30997914T>C	uc002eaf.2	+						HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Intron	NM_025193	NP_079469			hydroxy-delta-5-steroid dehydrogenase, 3 beta-						bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0																		---	---	---	---
STX4	6810	broad.mit.edu	37	16	31049979	31049979	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31049979C>T	uc002eal.2	+						STX4_uc002eak.2_Intron|STX4_uc002eam.2_Intron	NM_004604	NP_004595			syntaxin 4						intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072650C>T	uc010caf.2	-	3	1956	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	ZNF668_uc002eao.2_Silent_p.R533R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	533	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072971	31072971	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072971C>T	uc010caf.2	-	3	1635	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	ZNF668_uc002eao.2_Silent_p.Q426Q	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31092587	31092587	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31092587A>C	uc002eap.2	+	2	5231	c.4942A>C	c.(4942-4944)ACC>CCC	p.T1648P		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
PRSS53	339105	broad.mit.edu	37	16	31095491	31095491	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31095491C>T	uc002eaq.2	-	10	1591	c.1591G>A	c.(1591-1593)GCC>ACC	p.A531T	PRSS53_uc002ear.2_Missense_Mutation_p.A325T	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	531					proteolysis	extracellular region	serine-type endopeptidase activity				0																		---	---	---	---
MYST1	84148	broad.mit.edu	37	16	31142181	31142181	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31142181G>A	uc002eay.2	+	10	1290	c.1272G>A	c.(1270-1272)GAG>GAA	p.E424E	MYST1_uc002eax.2_Silent_p.E424E|MYST1_uc002eaz.2_Silent_p.E266E|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	424					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1																		---	---	---	---
PRSS8	5652	broad.mit.edu	37	16	31143846	31143846	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31143846G>A	uc002ebc.3	-	5	941	c.609C>T	c.(607-609)TGC>TGT	p.C203C	PRSS8_uc010vfe.1_Silent_p.C149C	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	203	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31383731	31383731	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31383731C>T	uc002ebu.1	+	18	2260	c.2193C>T	c.(2191-2193)ACC>ACT	p.T731T	ITGAX_uc002ebt.2_Silent_p.T731T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	731	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31384582	31384582	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31384582G>A	uc002ebu.1	+	20	2446	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ITGAX_uc002ebt.2_Silent_p.L793L	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	793	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31424522	31424522	+	Missense_Mutation	SNP	G	A	A	rs143512956		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31424522G>A	uc002ebv.1	+	16	2000	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	ITGAD_uc010cap.1_Missense_Mutation_p.A652T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	651	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31485969	31485969	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31485969G>A	uc002ecd.1	+	7	631	c.605G>A	c.(604-606)GGC>GAC	p.G202D	TGFB1I1_uc002ece.1_Missense_Mutation_p.G185D|TGFB1I1_uc010caq.1_Missense_Mutation_p.G41D	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	202	Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31487398	31487398	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31487398C>A	uc002ecd.1	+	8	806	c.780C>A	c.(778-780)GCC>GCA	p.A260A	TGFB1I1_uc002ece.1_Silent_p.A243A|TGFB1I1_uc010caq.1_Silent_p.A99A	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926568	31926568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31926568A>G	uc002ecs.3	+	4	1207	c.998A>G	c.(997-999)CAT>CGT	p.H333R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	333	C2H2-type 2; atypical.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927166	31927166	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927166C>T	uc002ecs.3	+	4	1805	c.1596C>T	c.(1594-1596)TTC>TTT	p.F532F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	532	C2H2-type 8.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927343	31927343	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927343T>C	uc002ecs.3	+	4	1982	c.1773T>C	c.(1771-1773)CTT>CTC	p.L591L		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	591	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927722	31927722	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927722T>G	uc002ecs.3	+	4	2361	c.2152T>G	c.(2152-2154)TGT>GGT	p.C718G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	718	C2H2-type 15.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	33647513	33647513	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:33647513G>T	uc010vga.1	-	1		c.30C>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h.																														---	---	---	---
ORC6L	23594	broad.mit.edu	37	16	46731415	46731415	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46731415A>C	uc002eeh.2	+	7	737	c.677A>C	c.(676-678)GAA>GCA	p.E226A		NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	226					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46998641	46998641	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46998641A>T	uc002eeo.2	-	6	798	c.656T>A	c.(655-657)GTC>GAC	p.V219D	DNAJA2_uc002eep.2_Missense_Mutation_p.V136D	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	219					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)																---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47497890	47497890	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47497890C>T	uc002eev.3	+						ITFG1_uc002eet.2_5'Flank|ITFG1_uc010vgh.1_5'Flank|PHKB_uc010vgi.1_Missense_Mutation_p.A14V|PHKB_uc002eeu.3_Missense_Mutation_p.A14V	NM_000293	NP_000284			phosphorylase kinase, beta isoform a						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48381563	48381563	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48381563A>T	uc002efi.1	+	13	2173	c.2084A>T	c.(2083-2085)GAG>GTG	p.E695V	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E651V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	695					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0																		---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49313459	49313459	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49313459C>A	uc002efq.2	-	3	777	c.438G>T	c.(436-438)CAG>CAT	p.Q146H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	146	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49314824	49314824	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49314824G>A	uc002efq.2	-							NM_004352	NP_004343			cerebellin 1 precursor						nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)																---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49407988	49407988	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49407988A>G	uc002efr.2	+	1	181	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	46										central_nervous_system(1)	1																		---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670423	49670423	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670423G>A	uc002efs.2	-	5	2938	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	ZNF423_uc010vgn.1_Silent_p.D763D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	880					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671085	49671085	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49671085G>A	uc002efs.2	-	5	2276	c.1978C>T	c.(1978-1980)CGG>TGG	p.R660W	ZNF423_uc010vgn.1_Missense_Mutation_p.R543W	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50118475	50118475	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50118475T>A	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50326626A>G	uc002egd.1	+	4	845	c.577A>G	c.(577-579)ACA>GCA	p.T193A	ADCY7_uc002egb.1_Missense_Mutation_p.T193A|ADCY7_uc002egc.1_Missense_Mutation_p.T193A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	193	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)													---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50583381	50583381	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50583381A>T	uc002egg.1	+	3	331	c.107A>T	c.(106-108)GAG>GTG	p.E36V		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	36					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667258	50667258	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50667258A>G	uc002egg.1	+	10	1203	c.979A>G	c.(979-981)AAG>GAG	p.K327E		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	327					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)														---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707797	50707797	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50707797A>G	uc002egk.2	-	4	644	c.471T>C	c.(469-471)CGT>CGC	p.R157R	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	157	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1																		---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175895	51175895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51175895A>G	uc010vgs.1	-	2	269	c.238T>C	c.(238-240)TCC>CCC	p.S80P	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	80					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504299	53504299	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53504299T>C	uc002ehi.3	+	16	2368	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	RBL2_uc002ehj.2_Silent_p.I460I|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	750	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5																		---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53675335	53675335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53675335A>G	uc002ehp.2	-	18	2800	c.2736T>C	c.(2734-2736)GTT>GTC	p.V912V	RPGRIP1L_uc002eho.3_Silent_p.V912V|RPGRIP1L_uc010vgy.1_Silent_p.V912V|RPGRIP1L_uc010cbx.2_Silent_p.V912V|RPGRIP1L_uc010vgz.1_Silent_p.V912V	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	912					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)																---	---	---	---
FTO	79068	broad.mit.edu	37	16	54145700	54145700	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:54145700T>A	uc002ehr.2	+	9	1613	c.1391T>A	c.(1390-1392)TTA>TAA	p.L464*	FTO_uc010vha.1_Nonsense_Mutation_p.L168*|FTO_uc010cbz.2_Nonsense_Mutation_p.L65*|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	464					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362679	55362679	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55362679G>T	uc002ehy.2	+	5	1322	c.789G>T	c.(787-789)GAG>GAT	p.E263D	IRX6_uc002ehx.2_Missense_Mutation_p.E263D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6																		---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55518028	55518028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55518028C>T	uc002ehz.3	+	3	792	c.481C>T	c.(481-483)CGA>TGA	p.R161*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R85*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R111*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55525713	55525713	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55525713G>A	uc002ehz.3	+	8	1492	c.1181G>A	c.(1180-1182)GGG>GAG	p.G394E	MMP2_uc010vhd.1_Missense_Mutation_p.G318E|MMP2_uc010ccc.2_Missense_Mutation_p.G344E|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	394	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55532275	55532275	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55532275C>T	uc002ehz.3	+	11	1995	c.1684C>T	c.(1684-1686)CCC>TCC	p.P562S	MMP2_uc010vhd.1_Missense_Mutation_p.P486S|MMP2_uc010ccc.2_Missense_Mutation_p.P512S|MMP2_uc002eia.3_Missense_Mutation_p.P59S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	562	Required for inhibitor TIMP2 binding.|Hemopexin-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55583280	55583280	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55583280C>A	uc002eie.3	+	10	1208	c.1027C>A	c.(1027-1029)CTG>ATG	p.L343M	LPCAT2_uc002eic.2_Missense_Mutation_p.L73M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	343	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0																		---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55719159	55719159	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55719159T>G	uc002eif.2	+	5	860	c.749T>G	c.(748-750)TTT>TGT	p.F250C	SLC6A2_uc010ccd.2_Missense_Mutation_p.F250C|SLC6A2_uc002eig.2_Missense_Mutation_p.F250C|SLC6A2_uc002eih.2_Missense_Mutation_p.F250C|SLC6A2_uc002eii.2_Missense_Mutation_p.F145C|SLC6A2_uc002eij.2_Missense_Mutation_p.F9C	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	250	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)													---	---	---	---
CES7	221223	broad.mit.edu	37	16	55899902	55899902	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55899902G>A	uc002eip.2	-	5	827	c.678C>T	c.(676-678)TCC>TCT	p.S226S	CES7_uc002eio.2_Silent_p.S226S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S120S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	226		Acyl-ester intermediate (By similarity).				extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
CES7	221223	broad.mit.edu	37	16	55903587	55903587	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55903587C>T	uc002eip.2	-	4	636	c.487G>A	c.(487-489)GCT>ACT	p.A163T	CES7_uc002eio.2_Missense_Mutation_p.A163T|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.A57T	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56501107	56501107	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56501107C>T	uc002ejb.2	+	7	789	c.688C>T	c.(688-690)CGT>TGT	p.R230C	OGFOD1_uc002ejc.2_Missense_Mutation_p.R90C	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	230	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)													---	---	---	---
NUP93	9688	broad.mit.edu	37	16	56782236	56782236	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56782236T>C	uc002eka.2	+	2	198	c.77T>C	c.(76-78)CTT>CCT	p.L26P		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	26					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2																		---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56974002	56974002	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56974002T>C	uc002eke.1	+	6	1159	c.750T>C	c.(748-750)GGT>GGC	p.G250G	HERPUD1_uc002ekf.1_Silent_p.G249G|HERPUD1_uc002ekg.1_Silent_p.G225G|HERPUD1_uc010cco.1_Splice_Site_p.G311_splice|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Silent_p.G68G	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	250	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0								T	ERG	prostate								---	---	---	---
CETP	1071	broad.mit.edu	37	16	56995923	56995923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56995923T>C	uc002eki.2	+	1	89	c.32T>C	c.(31-33)CTG>CCG	p.L11P	CETP_uc002ekj.2_Missense_Mutation_p.L11P	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	11					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57601918	57601918	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57601918G>A	uc002elx.3	+	9	1057	c.972G>A	c.(970-972)GCG>GCA	p.A324A	GPR114_uc010vhr.1_Silent_p.A324A|GPR114_uc002ely.2_Silent_p.A324A	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	324	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1																		---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57722382	57722382	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57722382G>A	uc002emh.2	+	12					GPR97_uc010vhv.1_3'UTR|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_3'UTR	NM_170776	NP_740746			G protein-coupled receptor 97 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---
KATNB1	10300	broad.mit.edu	37	16	57790289	57790289	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57790289C>A	uc002eml.1	+	19	2114	c.1740C>A	c.(1738-1740)ACC>ACA	p.T580T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	580	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)																---	---	---	---
TEPP	374739	broad.mit.edu	37	16	58011825	58011825	+	Silent	SNP	G	A	A	rs34782585	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58011825G>A	uc002emw.3	+	2	307	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TEPP_uc002emv.3_Silent_p.A90A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	90						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031417	58031417	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58031417C>T	uc002emx.1	-	2	1376	c.753G>A	c.(751-753)ACG>ACA	p.T251T		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	251	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58200527	58200527	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58200527T>C	uc002enc.2	-	9	930	c.788A>G	c.(787-789)CAC>CGC	p.H263R		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	263	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
CSNK2A2	1459	broad.mit.edu	37	16	58218226	58218226	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58218226A>G	uc002enc.2	-							NM_001896	NP_001887			casein kinase 2, alpha prime polypeptide						axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58438412G>A	uc002enh.3	+	3	638	c.430G>A	c.(430-432)GGA>AGA	p.G144R	GINS3_uc010cdj.2_Missense_Mutation_p.G183R|GINS3_uc002enj.3_Missense_Mutation_p.G66R|GINS3_uc002eni.3_Missense_Mutation_p.R145Q	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	144					DNA replication	nucleus					0																		---	---	---	---
SETD6	79918	broad.mit.edu	37	16	58550154	58550154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58550154C>T	uc002ens.2	+	3	442	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SETD6_uc010cdl.2_Missense_Mutation_p.A128V|SETD6_uc002enr.2_Missense_Mutation_p.A104V|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.A52V	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	128	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58568040	58568040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58568040G>A	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589714	58589714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58589714G>A	uc002env.2	-	20	2871	c.2578C>T	c.(2578-2580)CCA>TCA	p.P860S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P855S|CNOT1_uc002enx.2_Missense_Mutation_p.P860S|CNOT1_uc002enz.1_Missense_Mutation_p.P289S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	860					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58712265	58712265	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58712265T>C	uc002eod.1	-	5	976	c.583A>G	c.(583-585)AGG>GGG	p.R195G	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Missense_Mutation_p.R195G|SLC38A7_uc010vil.1_Missense_Mutation_p.R106G|SLC38A7_uc002eoe.1_Missense_Mutation_p.R195G	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	195	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1																		---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65032464	65032464	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:65032464C>G	uc002eoi.2	-	4	957	c.523_splice	c.e4+1	p.G175_splice	CDH11_uc010cdn.2_Splice_Site|CDH11_uc002eoj.2_Splice_Site_p.G175_splice|CDH11_uc010vin.1_Splice_Site_p.G49_splice	NM_001797	NP_001788			cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)				T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66424419	66424419	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)														---	---	---	---
TK2	7084	broad.mit.edu	37	16	66575795	66575795	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66575795G>A	uc002eos.2	-	3	569	c.344C>T	c.(343-345)GCG>GTG	p.A115V	TK2_uc010vip.1_5'UTR|TK2_uc002eor.2_Missense_Mutation_p.A42V|TK2_uc010cdq.2_Missense_Mutation_p.A42V|TK2_uc010cdr.2_Missense_Mutation_p.A24V|TK2_uc010viq.1_Missense_Mutation_p.A115V|TK2_uc010vir.1_Intron	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)														---	---	---	---
CMTM2	146225	broad.mit.edu	37	16	66613716	66613716	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66613716G>T	uc002ept.2	+	1	366	c.206G>T	c.(205-207)CGC>CTC	p.R69L	CMTM2_uc010cdu.2_Missense_Mutation_p.R69L	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	69					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)														---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66764088	66764088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66764088A>G	uc002eqb.1	-	8	999	c.968T>C	c.(967-969)TTA>TCA	p.L323S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L246S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	323					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)														---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180991	67180991	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67180991C>T	uc002erc.2	+	17	1310	c.1226C>T	c.(1225-1227)CCC>CTC	p.P409L	C16orf70_uc002erd.2_Missense_Mutation_p.P409L|uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	409										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)														---	---	---	---
NOL3	8996	broad.mit.edu	37	16	67208597	67208597	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67208597A>G	uc010vjd.1	+	3	552	c.545A>G	c.(544-546)CAT>CGT	p.H182R	NOL3_uc010vjc.1_Silent_p.T185T|NOL3_uc002erp.2_Silent_p.T123T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	120					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67381447	67381447	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67381447T>C	uc002esv.2	+	4	460	c.441T>C	c.(439-441)TTT>TTC	p.F147F	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Silent_p.F26F|LRRC36_uc002esx.2_Silent_p.F26F|LRRC36_uc010vjk.1_Silent_p.F26F|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	147											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575559	67575559	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575559C>A	uc010vjp.1	+	12	1110	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM65A_uc010cei.1_Silent_p.P160P|FAM65A_uc002eth.2_Silent_p.P318P|FAM65A_uc010cej.2_Silent_p.P321P|FAM65A_uc002eti.1_Silent_p.P281P|FAM65A_uc010vjq.1_Silent_p.P332P|FAM65A_uc002etj.1_Silent_p.P317P|FAM65A_uc002etk.2_Silent_p.P317P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	322						cytoplasm	binding	p.T338S(1)		ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67575891	67575891	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575891G>T	uc010vjp.1	+	13	1358	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	FAM65A_uc010cei.1_Missense_Mutation_p.R243M|FAM65A_uc002eth.2_Missense_Mutation_p.R401M|FAM65A_uc010cej.2_Missense_Mutation_p.R404M|FAM65A_uc002eti.1_Missense_Mutation_p.R364M|FAM65A_uc010vjq.1_Missense_Mutation_p.R415M|FAM65A_uc002etj.1_Missense_Mutation_p.R400M|FAM65A_uc002etk.2_Missense_Mutation_p.R400M	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	405						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693469	67693469	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67693469C>A	uc002etq.3	-	4	979	c.642G>T	c.(640-642)ACG>ACT	p.T214T	ACD_uc002etp.3_Silent_p.T211T|ACD_uc002etr.3_Silent_p.T211T|ACD_uc010vjt.1_Nonsense_Mutation_p.G234*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	214					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763897	67763897	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67763897G>A	uc002eud.2	-	8	1058	c.942C>T	c.(940-942)ACC>ACT	p.T314T	RANBP10_uc010ceo.2_Silent_p.T85T|RANBP10_uc010vju.1_Silent_p.T258T|RANBP10_uc010vjv.1_Silent_p.T197T|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	314	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67911221	67911221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67911221G>A	uc002eur.2	+	5	719	c.553G>A	c.(553-555)GCG>ACG	p.A185T	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.A117T|EDC4_uc010ces.1_Missense_Mutation_p.A28T|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	185	WD 1.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67915267	67915267	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67915267G>T	uc002eur.2	+	20	2902	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	EDC4_uc010cer.2_Missense_Mutation_p.K531N|EDC4_uc002eus.2_Missense_Mutation_p.K642N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	912					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
NRN1L	123904	broad.mit.edu	37	16	67919655	67919655	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67919655C>T	uc002euu.2	+	2	136	c.110C>T	c.(109-111)GCG>GTG	p.A37V	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	37						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)														---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67964403	67964403	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67964403C>A	uc002euw.2	-	5	417	c.407G>T	c.(406-408)CGC>CTC	p.R136L		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)														---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67979673	67979673	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67979673C>T	uc002euz.2	-	21	2982	c.2841G>A	c.(2839-2841)GAG>GAA	p.E947E	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.E941E|SLC12A4_uc010vkh.1_Silent_p.E916E|SLC12A4_uc010vki.1_Silent_p.E941E|SLC12A4_uc010vkj.1_Silent_p.E949E|SLC12A4_uc002eva.2_Silent_p.E947E|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	947	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68014116	68014116	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68014116G>T	uc002evc.3	-	1	337	c.243C>A	c.(241-243)ACC>ACA	p.T81T	DPEP3_uc010cex.2_Silent_p.T81T	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	56					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)														---	---	---	---
ESRP2	80004	broad.mit.edu	37	16	68264194	68264194	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68264194G>C	uc010cfa.1	-	15	2307	c.2119C>G	c.(2119-2121)CTG>GTG	p.L707V	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.L697V	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	707					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1																OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338046	68338046	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68338046G>A	uc002evw.1	-	3	580	c.561C>T	c.(559-561)CGC>CGT	p.R187R		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	187					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)														---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373745	68373745	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68373745T>C	uc002evy.1	+	9	1077	c.801T>C	c.(799-801)TTT>TTC	p.F267F	PRMT7_uc002evx.1_Silent_p.F267F|PRMT7_uc010vlg.1_Silent_p.F217F|PRMT7_uc002evz.1_Silent_p.F113F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	267					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68397447	68397447	+	Missense_Mutation	SNP	G	A	A	rs75117374	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68397447G>A	uc002ewa.2	-	7	2083	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	SMPD3_uc010cfe.2_Missense_Mutation_p.T554M|SMPD3_uc010vlh.1_Missense_Mutation_p.T546M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	554	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)													---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68712677	68712677	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68712677G>A	uc002ewf.2	+	6	1691	c.559G>A	c.(559-561)GCT>ACT	p.A187T	CDH3_uc010vli.1_Missense_Mutation_p.A132T	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	187	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68716321	68716321	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68716321T>C	uc002ewf.2	+	9	2245	c.1113T>C	c.(1111-1113)GGT>GGC	p.G371G	CDH3_uc010vli.1_Silent_p.G316G	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH1	999	broad.mit.edu	37	16	68857436	68857436	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68857436G>A	uc002ewg.1	+	13	2195	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A630T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	691	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69279604	69279604	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69279604G>A	uc002ewu.2	+	2	700	c.680G>A	c.(679-681)GGC>GAC	p.G227D		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	227	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
SNTB2	6645	broad.mit.edu	37	16	69334808	69334808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69334808G>A	uc002ewu.2	+	7	1624	c.1604G>A	c.(1603-1605)CGT>CAT	p.R535H	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	535	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)														---	---	---	---
TERF2	7014	broad.mit.edu	37	16	69401102	69401102	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69401102C>T	uc002exd.2	-	7	947	c.822G>A	c.(820-822)AGG>AGA	p.R274R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	274					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)																---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727557	69727557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69727557C>T	uc002exm.1	+	12	4983	c.3775C>T	c.(3775-3777)CAA>TAA	p.Q1259*	NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1183*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1277*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1276*|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1259	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70154527	70154527	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70154527G>T	uc002eyf.1	+	3	1089	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	44					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)														---	---	---	---
AARS	16	broad.mit.edu	37	16	70286780	70286780	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70286780G>A	uc002eyn.1	-	21	2861	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Silent_p.S763S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	917					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AARS	16	broad.mit.edu	37	16	70302259	70302259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70302259C>T	uc002eyn.1	-	8	1096	c.986G>A	c.(985-987)CGC>CAC	p.R329H	AARS_uc010vlu.1_Missense_Mutation_p.R159H	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	329			R -> H (in CMT2N).		alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
AARS	16	broad.mit.edu	37	16	70304204	70304204	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70304204G>A	uc002eyn.1	-	6	821	c.711C>T	c.(709-711)AGC>AGT	p.S237S	AARS_uc010vlu.1_Silent_p.S67S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	237					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---
DDX19A	55308	broad.mit.edu	37	16	70350004	70350004	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70350004G>A	uc002eys.2	+	4	422	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	DDX19B_uc010vly.1_Missense_Mutation_p.R98Q|DDX19B_uc010vlv.1_Missense_Mutation_p.R103Q|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyo.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyp.2_Missense_Mutation_p.R98Q|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR|uc002eyt.2_RNA	NM_007242	NP_009173	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	97	Q motif.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)																---	---	---	---
ST3GAL2	6483	broad.mit.edu	37	16	70429011	70429011	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70429011G>T	uc002eyw.2	-	2	2515	c.407C>A	c.(406-408)CCT>CAT	p.P136H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P136H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	136	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
FUK	197258	broad.mit.edu	37	16	70503129	70503129	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70503129C>G	uc002eyy.2	+	10	916	c.858C>G	c.(856-858)CCC>CCG	p.P286P	FUK_uc010cft.2_Silent_p.P318P|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70588357	70588357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70588357G>A	uc002ezf.2	+	12	1622	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	471					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70590845	70590845	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70590845T>C	uc002ezf.2	+	15	2134	c.1923T>C	c.(1921-1923)TGT>TGC	p.C641C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	641					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70871608	70871608	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70871608C>A	uc002ezr.2	-	77	13352	c.13224G>T	c.(13222-13224)AAG>AAT	p.K4408N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4409										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70986455	70986455	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70986455T>A	uc002ezr.2	-	41	6525	c.6397A>T	c.(6397-6399)ACT>TCT	p.T2133S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2134										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71218785	71218785	+	Missense_Mutation	SNP	C	T	T	rs148583032		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71218785C>T	uc002ezr.2	-	3	372	c.244G>A	c.(244-246)GAA>AAA	p.E82K	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.E82K|HYDIN_uc010vmc.1_Missense_Mutation_p.E99K|HYDIN_uc010vmd.1_Missense_Mutation_p.E109K|HYDIN_uc002ezw.3_Missense_Mutation_p.E99K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	82								p.E82K(2)		ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
TAT	6898	broad.mit.edu	37	16	71605530	71605530	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71605530A>G	uc002fap.2	-	7	837	c.738T>C	c.(736-738)GCT>GCC	p.A246A		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	246					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)													---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71663380	71663380	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71663380A>G	uc002fat.2	+	2	641	c.578A>G	c.(577-579)TAC>TGC	p.Y193C	MARVELD3_uc002fas.1_Missense_Mutation_p.Y193C|MARVELD3_uc002fau.2_Missense_Mutation_p.Y193C|MARVELD3_uc010cge.2_Missense_Mutation_p.T139A	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	193	MARVEL.|Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71683225	71683225	+	Silent	SNP	C	T	T	rs148712567	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71683225C>T	uc002fax.2	-	18	3546	c.3540G>A	c.(3538-3540)GAG>GAA	p.E1180E	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.E1113E	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1180						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HPR	3250	broad.mit.edu	37	16	72110871	72110871	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72110871C>T	uc002fby.2	+	5	968	c.938C>T	c.(937-939)GCG>GTG	p.A313V	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	313	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)																---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72131586	72131586	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72131586T>C	uc002fcb.2	+	4	877	c.522T>C	c.(520-522)GAT>GAC	p.D174D	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	174					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)																---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72153953	72153953	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72153953T>C	uc002fcc.3	-	20	2991	c.2819A>G	c.(2818-2820)GAA>GGA	p.E940G	PMFBP1_uc002fcd.2_Missense_Mutation_p.E935G|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E810G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	940	Potential.									ovary(2)	2		Ovarian(137;0.179)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821778	72821778	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72821778A>G	uc002fck.2	-	10	11070	c.10397T>C	c.(10396-10398)GTC>GCC	p.V3466A	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2552A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3466					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828653	72828653	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72828653C>T	uc002fck.2	-	9	8601	c.7928G>A	c.(7927-7929)CGT>CAT	p.R2643H	ZFHX3_uc002fcl.2_Missense_Mutation_p.R1729H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2643	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72830751	72830751	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72830751C>T	uc002fck.2	-	9	6503	c.5830G>A	c.(5830-5832)GCC>ACC	p.A1944T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A1030T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1944					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831787	72831787	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72831787A>G	uc002fck.2	-	9	5467	c.4794T>C	c.(4792-4794)TGT>TGC	p.C1598C	ZFHX3_uc002fcl.2_Silent_p.C684C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1598	C2H2-type 16.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72832395	72832395	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72832395G>A	uc002fck.2	-	9	4859	c.4186C>T	c.(4186-4188)CGC>TGC	p.R1396C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R482C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72993166	72993166	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72993166G>T	uc002fck.2	-	2	1552	c.879C>A	c.(877-879)TAC>TAA	p.Y293*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	293	C2H2-type 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74334090	74334090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74334090C>T	uc002fcq.2	+	2	284	c.152C>T	c.(151-153)TCG>TTG	p.S51L	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	51	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0																		---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74503938	74503938	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74503938A>G	uc002fcy.3	-	16	2313	c.2263T>C	c.(2263-2265)TTT>CTT	p.F755L	GLG1_uc002fcx.2_Missense_Mutation_p.F755L|GLG1_uc002fcw.3_Missense_Mutation_p.F744L|GLG1_uc002fcz.3_Missense_Mutation_p.F172L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	755	Cys-rich GLG1 11.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2																		---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74729205	74729205	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74729205G>A	uc002fdb.2	-	2	892	c.451C>T	c.(451-453)CTA>TTA	p.L151L	MLKL_uc002fdc.2_Silent_p.L151L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	151							ATP binding|protein binding|protein kinase activity			stomach(2)	2																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563326	75563326	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563326T>C	uc002fei.2	-	3	2352	c.957A>G	c.(955-957)CCA>CCG	p.P319P	CHST5_uc002fej.1_Silent_p.P325P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	319	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563832	75563832	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563832G>A	uc002fei.2	-	3	1846	c.451C>T	c.(451-453)CTG>TTG	p.L151L	CHST5_uc002fej.1_Silent_p.L157L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	151	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
KARS	3735	broad.mit.edu	37	16	75675553	75675553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75675553C>T	uc002feq.2	-	2	179	c.131G>A	c.(130-132)AGT>AAT	p.S44N	KARS_uc002fer.2_Missense_Mutation_p.S72N|KARS_uc002fes.2_Translation_Start_Site|KARS_uc010cgz.2_5'Flank|KARS_uc010cha.1_Missense_Mutation_p.S81N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	44				Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)													---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76350303	76350303	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76350303C>A	uc002feu.1	+						CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002fex.1_Missense_Mutation_p.L30M|CNTNAP4_uc002few.2_Intron	NM_033401	NP_207837			cell recognition protein CASPR4 isoform 1						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77227572	77227572	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77227572C>T	uc002fez.2	+	3	703	c.373C>T	c.(373-375)CGG>TGG	p.R125W	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	125							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228320	77228320	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228320G>A	uc002fez.2	+	4	894	c.564G>A	c.(562-564)GGG>GGA	p.G188G	MON1B_uc010vnf.1_Silent_p.G79G|MON1B_uc010vng.1_Silent_p.G42G|MON1B_uc002ffa.2_Silent_p.G68G	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	188							protein binding				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228534	77228534	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77228534G>A	uc002fez.2	+	4	1108	c.778G>A	c.(778-780)GCA>ACA	p.A260T	MON1B_uc010vnf.1_Missense_Mutation_p.A151T|MON1B_uc010vng.1_Missense_Mutation_p.A114T|MON1B_uc002ffa.2_Missense_Mutation_p.A140T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	260							protein binding				0																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77369677	77369677	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77369677T>C	uc002ffc.3	-	12	2254	c.1835A>G	c.(1834-1836)CAG>CGG	p.Q612R	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q200R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q308R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	612	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77401590	77401590	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77401590A>T	uc002ffc.3	-	4	945	c.526T>A	c.(526-528)TTC>ATC	p.F176I	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	176					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466602	78466602	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:78466602G>A	uc002ffk.2	+	8	1134	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	WWOX_uc010vnk.1_Missense_Mutation_p.V224M|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	337	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)														---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80654839	80654839	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80654839G>A	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80667142	80667142	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80667142A>G	uc002ffs.2	-							NM_152342	NP_689555			chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80718775	80718775	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80718775T>C	uc002ffs.2	-	2	381	c.276A>G	c.(274-276)AGA>AGG	p.R92R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	92						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
C16orf61	56942	broad.mit.edu	37	16	81030908	81030908	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81030908T>C	uc002ffu.2	-						C16orf61_uc002ffv.2_Intron	NM_020188	NP_064573			hypothetical protein LOC56942												0																		---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81077197	81077197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81077197G>A	uc002ffz.1	+	4	1112	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATMIN_uc002fga.2_Missense_Mutation_p.S207N|ATMIN_uc010vnn.1_Missense_Mutation_p.S136N|ATMIN_uc002fgb.1_Missense_Mutation_p.S207N	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	365	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0																		---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81097360	81097360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81097360C>T	uc002fgc.3	-	3	460	c.201G>A	c.(199-201)TGG>TGA	p.W67*	C16orf46_uc010chf.2_Nonsense_Mutation_p.W67*|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	67											0																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81211477	81211477	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81211477A>G	uc002fgh.1	-	14	2372	c.2372T>C	c.(2371-2373)TTT>TCT	p.F791S	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.F106S|PKD1L2_uc002fgj.2_Missense_Mutation_p.F791S|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	791	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81733378	81733378	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81733378C>T	uc002fgp.2	+	15	1799	c.1727C>T	c.(1726-1728)GCA>GTA	p.A576V	CMIP_uc002fgq.1_Missense_Mutation_p.A482V|CMIP_uc010vnq.1_Missense_Mutation_p.A389V|CMIP_uc002fgr.1_Missense_Mutation_p.A423V	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	542						cytoplasm|nucleus					0																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81891910	81891910	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81891910A>G	uc002fgt.2	+	4	532	c.380A>G	c.(379-381)AAA>AGA	p.K127R	PLCG2_uc010chg.1_Missense_Mutation_p.K127R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	127	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83704437	83704437	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83704437A>G	uc002fgx.2	+	9	1264	c.1144A>G	c.(1144-1146)AAT>GAT	p.N382D	CDH13_uc010vns.1_Missense_Mutation_p.N429D|CDH13_uc010vnt.1_Missense_Mutation_p.N128D|CDH13_uc010vnu.1_Missense_Mutation_p.N343D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	382	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83948723	83948723	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83948723A>G	uc002fgz.2	+	5	1131	c.1111A>G	c.(1111-1113)ATT>GTT	p.I371V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	371					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0																		---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998695	83998695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83998695G>A	uc002fha.2	+	7	1149	c.766G>A	c.(766-768)GGG>AGG	p.G256R	OSGIN1_uc002fhb.2_Missense_Mutation_p.G173R|OSGIN1_uc002fhc.2_Missense_Mutation_p.G173R	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	256					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0																		---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050247	84050247	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84050247G>A	uc002fhg.1	-	8	1039	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	347					amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84101321	84101321	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84101321A>G	uc002fhi.2	-	16	2681	c.2179T>C	c.(2179-2181)TAC>CAC	p.Y727H	MBTPS1_uc002fhh.2_Missense_Mutation_p.Y231H	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	727	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84103626	84103626	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84103626T>C	uc002fhi.2	-	14	2302	c.1800A>G	c.(1798-1800)GAA>GAG	p.E600E	MBTPS1_uc002fhh.2_Silent_p.E104E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	600	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84214743	84214743	+	Missense_Mutation	SNP	G	A	A	rs78476640	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84214743G>A	uc002fhn.2	-	11	1520	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	TAF1C_uc002fhm.2_Missense_Mutation_p.S338L|TAF1C_uc010vnx.1_Missense_Mutation_p.S405L|TAF1C_uc010vny.1_Missense_Mutation_p.S22L|TAF1C_uc010vnz.1_Missense_Mutation_p.S99L|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.S99L|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	431					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1																		---	---	---	---
WFDC1	58189	broad.mit.edu	37	16	84351925	84351925	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84351925G>T	uc002fhw.2	+	3	562	c.385G>T	c.(385-387)GGC>TGC	p.G129C	WFDC1_uc002fhv.2_Missense_Mutation_p.G129C	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	129					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1																		---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84474490	84474490	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84474490G>T	uc002fhx.2	+	14	1326	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	ATP2C2_uc010chj.2_Missense_Mutation_p.G413W|ATP2C2_uc002fhy.2_Missense_Mutation_p.G430W|ATP2C2_uc002fhz.2_Missense_Mutation_p.G262W	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	413	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
ZDHHC7	55625	broad.mit.edu	37	16	85024046	85024046	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85024046T>C	uc002fiq.2	-	3	532	c.179A>G	c.(178-180)TAT>TGT	p.Y60C	ZDHHC7_uc010voi.1_Missense_Mutation_p.Y60C|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	60	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86545019	86545019	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86546570	86546570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86546570A>C	uc002fjl.2	+	2	1062	c.1019A>C	c.(1018-1020)GAC>GCC	p.D340A		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	340					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0																		---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86601011	86601011	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86601011T>C	uc002fjq.2	+	1	155	c.70T>C	c.(70-72)TAC>CAC	p.Y24H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	24					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0														Late-onset_Hereditary_Lymphedema				---	---	---	---
FOXL1	2300	broad.mit.edu	37	16	86612547	86612547	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86612547A>G	uc002fjr.2	+	1	433	c.218A>G	c.(217-219)AAC>AGC	p.N73S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	73	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1																		---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87871474	87871474	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87871474G>A	uc002fkm.2	-	7	1189	c.1117C>T	c.(1117-1119)CCC>TCC	p.P373S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	373					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)														---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88697554	88697554	+	Silent	SNP	G	A	A	rs142280171	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88697554G>A	uc002fky.2	+	18	2909	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ZC3H18_uc010voz.1_Silent_p.T927T|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Silent_p.T173T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	903						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88780044	88780044	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88780044G>A	uc002flm.2	+						CTU2_uc002fln.2_Intron|CTU2_uc010chz.2_Intron|CTU2_uc010cia.2_Intron	NM_001012759	NP_001012777			cytoplasmic tRNA 2-thiolation protein 2 isoform						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1																		---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88902599	88902599	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88902599T>A	uc002fly.3	-						GALNS_uc010cid.2_Intron|GALNS_uc002flz.3_Intron	NM_000512	NP_000503			galactosamine (N-acetyl)-6-sulfate sulfatase							lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)													---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923569	88923569	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923569G>A	uc002fmc.2	+	1	64	c.11G>A	c.(10-12)TGC>TAC	p.C4Y	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fme.3_Missense_Mutation_p.C4Y|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	4					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923595	88923595	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88923595C>A	uc002fmc.2	+						GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Intron|TRAPPC2L_uc002fme.3_Intron|TRAPPC2L_uc002fmf.2_5'Flank	NM_016209	NP_057293			trafficking protein particle complex 2-like						ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294580	89294580	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89294580A>G	uc002fmv.2	+	6	2139	c.1800A>G	c.(1798-1800)ACA>ACG	p.T600T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T558T|ZNF778_uc010vpg.1_Silent_p.T363T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	600	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)														---	---	---	---
SPATA2L	124044	broad.mit.edu	37	16	89764596	89764596	+	Missense_Mutation	SNP	C	A	A	rs35826409	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89764596C>A	uc002foj.2	-	3	486	c.421G>T	c.(421-423)GCC>TCC	p.A141S	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	141											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89776229	89776229	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89776229T>C	uc002fom.1	-	11	1469	c.1344A>G	c.(1342-1344)GAA>GAG	p.E448E	C16orf7_uc002fol.1_Silent_p.E378E|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	448					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89783004	89783004	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89783004A>G	uc002fom.1	-	4	422	c.297T>C	c.(295-297)CCT>CCC	p.P99P	C16orf7_uc002fol.1_Silent_p.P29P|uc002fon.1_RNA|uc002foo.1_5'UTR	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	99					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89836392	89836392	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89836392G>A	uc002fou.1	-	26	2399	c.2357C>T	c.(2356-2358)GCC>GTC	p.A786V	FANCA_uc010vpn.1_Missense_Mutation_p.A786V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	786					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)				D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89977618	89977618	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89977618A>G	uc002fpb.2	+	18	2085	c.2003A>G	c.(2002-2004)GAC>GGC	p.D668G	TCF25_uc002fpc.2_Silent_p.R472R|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	668					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)														---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90029779	90029779	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90029779C>A	uc002fpn.1	+	10	1202	c.1113C>A	c.(1111-1113)CGC>CGA	p.R371R	DEF8_uc002fpo.1_Silent_p.R310R|DEF8_uc002fpp.1_Silent_p.R300R|DEF8_uc010vpq.1_Silent_p.R250R|DEF8_uc010vpr.1_Silent_p.R310R|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	371					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)														---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90099232	90099232	+	Missense_Mutation	SNP	G	A	A	rs145845004		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90099232G>A	uc002fqi.1	+	4	517	c.395G>A	c.(394-396)CGC>CAC	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)														---	---	---	---
RPH3AL	9501	broad.mit.edu	37	17	177323	177323	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:177323G>A	uc002frd.1	-	1	56	c.12C>T	c.(10-12)ACC>ACT	p.T4T	RPH3AL_uc010vpy.1_Silent_p.T4T|RPH3AL_uc002fre.1_Silent_p.T4T|RPH3AL_uc002frf.1_Silent_p.T4T|RPH3AL_uc010cjl.1_Silent_p.T4T	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	4					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)														---	---	---	---
VPS53	55275	broad.mit.edu	37	17	534801	534801	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:534801G>A	uc002frn.2	-	8	823	c.676C>T	c.(676-678)CAG>TAG	p.Q226*	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q226*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q197*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q28*|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	226					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	663486	663486	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:663486A>C	uc002frv.2	-						GLOD4_uc002frt.2_Intron|GLOD4_uc002fru.2_Intron|GLOD4_uc010vqc.1_Intron	NM_016080	NP_057164			glyoxalase domain containing 4							mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
NXN	64359	broad.mit.edu	37	17	704358	704358	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:704358T>A	uc002fsa.2	-	8	1231	c.1139A>T	c.(1138-1140)GAC>GTC	p.D380V	NXN_uc010vqd.1_Missense_Mutation_p.D71V|NXN_uc002frz.2_Missense_Mutation_p.D131V|NXN_uc010vqe.1_Missense_Mutation_p.D272V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	380					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)														---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	902817	902817	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:902817T>G	uc002fsc.2	+	3	527	c.501T>G	c.(499-501)GGT>GGG	p.G167G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	167				IG -> YW (in Ref. 1; AAD40106).	transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914003	914003	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914003C>T	uc002fsd.2	-	20	2312	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	ABR_uc002fse.2_Silent_p.T688T|ABR_uc010vqf.1_Silent_p.T185T|ABR_uc010vqg.1_Silent_p.T516T|ABR_uc002fsg.2_Silent_p.T697T|ABR_uc002fsh.1_Silent_p.T342T|ABR_uc002fsf.2_Silent_p.T271T	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	734	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	914062	914062	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:914062T>C	uc002fsd.2	-	20	2253	c.2143A>G	c.(2143-2145)AAC>GAC	p.N715D	ABR_uc002fse.2_Missense_Mutation_p.N669D|ABR_uc010vqf.1_Missense_Mutation_p.N166D|ABR_uc010vqg.1_Missense_Mutation_p.N497D|ABR_uc002fsg.2_Missense_Mutation_p.N678D|ABR_uc002fsh.1_Missense_Mutation_p.N323D|ABR_uc002fsf.2_Missense_Mutation_p.N252D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
ABR	29	broad.mit.edu	37	17	953410	953410	+	Silent	SNP	G	A	A	rs141242979	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:953410G>A	uc002fsd.2	-	16	1781	c.1671C>T	c.(1669-1671)ATC>ATT	p.I557I	ABR_uc002fse.2_Silent_p.I511I|ABR_uc010vqg.1_Silent_p.I339I|ABR_uc002fsg.2_Silent_p.I520I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	557	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1576438	1576438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1576438C>T	uc002fte.2	-	24	3825	c.3711G>A	c.(3709-3711)ATG>ATA	p.M1237I		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1237						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1579343	1579343	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1579343T>C	uc002fte.2	-	18	2672	c.2558A>G	c.(2557-2559)AAG>AGG	p.K853R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	853						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1634045	1634045	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1634045G>A	uc002fti.2	+						WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002ftj.2_Intron|WDR81_uc010vqq.1_Intron	NM_001163811	NP_001157283			WD repeat domain 81 isoform 4											skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1640894	1640894	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1640894G>A	uc002fti.2	+	10	2321	c.2060G>A	c.(2059-2061)GGC>GAC	p.G687D	WDR81_uc002fth.2_Missense_Mutation_p.G863D|WDR81_uc010vqp.1_Missense_Mutation_p.G711D|WDR81_uc002ftj.2_Missense_Mutation_p.G1914D|WDR81_uc010vqq.1_Missense_Mutation_p.G545D	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	687										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1686415	1686415	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1686415A>G	uc002ftm.3	-	10	2343	c.2175T>C	c.(2173-2175)AGT>AGC	p.S725S	SMYD4_uc002ftn.1_Silent_p.S580S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	725							zinc ion binding			skin(3)|kidney(2)	5																		---	---	---	---
METT10D	79066	broad.mit.edu	37	17	2323876	2323876	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2323876T>C	uc002fut.2	-	10	1225	c.1077A>G	c.(1075-1077)CGA>CGG	p.R359R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R141R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	359							methyltransferase activity				0																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604436	2604436	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604436T>C	uc002fuy.1	-	7	995	c.909A>G	c.(907-909)AAA>AAG	p.K303K	KIAA0664_uc002fux.1_Silent_p.K235K	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	303							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2604780	2604780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2604780C>T	uc002fuy.1	-	6	751	c.665G>A	c.(664-666)GGA>GAA	p.G222E	KIAA0664_uc002fux.1_Missense_Mutation_p.G154E	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	222							binding			breast(2)	2																		---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2605316	2605316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2605316G>A	uc002fuy.1	-	4	483	c.397C>T	c.(397-399)CGC>TGC	p.R133C	KIAA0664_uc002fux.1_Missense_Mutation_p.R65C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	133							binding			breast(2)	2																		---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2867364	2867364	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2867364T>C	uc010ckd.2	+	7	582	c.492_splice	c.e7+2	p.K164_splice	RAP1GAP2_uc010cke.2_Splice_Site_p.K149_splice	NM_015085	NP_055900			RAP1 GTPase activating protein 2 isoform 1						regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1																		---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195465	3195465	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3195465G>A	uc002fvh.1	-	1	412	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3																		---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3417315	3417315	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3417315A>T	uc002fvt.1	-						SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_Intron|TRPV3_uc010vrh.1_Intron|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Intron|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Intron|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Intron	NM_145068	NP_659505			transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3483809	3483809	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3483809G>T	uc010vrr.1	-	9	2016	c.1489C>A	c.(1489-1491)CTG>ATG	p.L497M	TRPV1_uc010vro.1_Missense_Mutation_p.L508M|TRPV1_uc010vrp.1_Missense_Mutation_p.L437M|TRPV1_uc010vrq.1_Missense_Mutation_p.L495M|TRPV1_uc010vrs.1_Missense_Mutation_p.L497M|TRPV1_uc010vrt.1_Missense_Mutation_p.L497M|TRPV1_uc010vru.1_Missense_Mutation_p.L497M	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	497	Helical; (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3494585	3494585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3494585C>T	uc010vrr.1	-	2	874	c.347G>A	c.(346-348)AGG>AAG	p.R116K	TRPV1_uc010vro.1_Missense_Mutation_p.R116K|TRPV1_uc010vrp.1_Missense_Mutation_p.R116K|TRPV1_uc010vrq.1_Missense_Mutation_p.G91R|TRPV1_uc010vrs.1_Missense_Mutation_p.R116K|TRPV1_uc010vrt.1_Missense_Mutation_p.R116K|TRPV1_uc010vru.1_Missense_Mutation_p.R116K	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	116	Cytoplasmic (Potential).|ANK 1.				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
P2RX5	5026	broad.mit.edu	37	17	3599262	3599262	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3599262A>C	uc002fwi.2	-	1	322	c.38T>G	c.(37-39)CTG>CGG	p.L13R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.L13R|P2RX5_uc002fwj.2_Missense_Mutation_p.L13R|P2RX5_uc002fwk.2_Missense_Mutation_p.L13R|P2RX5_uc002fwl.2_Missense_Mutation_p.L13R|P2RX5_uc002fwm.1_Missense_Mutation_p.L13R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	13	Cytoplasmic (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0																		---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3660314	3660314	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3660314G>A	uc002fwo.3	-	10	1234	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	379	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)														---	---	---	---
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3779601G>A	uc002fwt.2	-	10	1006	c.912C>T	c.(910-912)GAC>GAT	p.D304D	CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)														---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4020355	4020355	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4020355T>C	uc002fxe.2	-	3	669	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	ZZEF1_uc002fxk.1_Missense_Mutation_p.Y202C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	202							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
SPNS2	124976	broad.mit.edu	37	17	4436605	4436605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4436605C>T	uc002fxx.2	+	8	1370	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	386					lipid transport|transmembrane transport	integral to membrane					0																		---	---	---	---
GGT6	124975	broad.mit.edu	37	17	4463748	4463748	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4463748C>A	uc002fyd.3	-	1	129	c.69G>T	c.(67-69)GAG>GAT	p.E23D	GGT6_uc010vsb.1_5'Flank|GGT6_uc002fyc.3_Missense_Mutation_p.E23D|GGT6_uc010vsc.1_Missense_Mutation_p.E23D	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	23	Cytoplasmic (Potential).|Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1																		---	---	---	---
CXCL16	58191	broad.mit.edu	37	17	4641712	4641712	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4641712C>T	uc002fyr.3	-	3	881	c.349G>A	c.(349-351)GAT>AAT	p.D117N	CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Missense_Mutation_p.D117N|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	98	Extracellular (Potential).|Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0																		---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647966	4647966	+	Missense_Mutation	SNP	G	A	A	rs138988876		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4647966G>A	uc002fyt.2	+	10	1652	c.1613G>A	c.(1612-1614)CGG>CAG	p.R538Q	ZMYND15_uc002fyv.2_Missense_Mutation_p.R577Q|ZMYND15_uc002fyu.2_Missense_Mutation_p.R577Q	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	538							zinc ion binding				0																		---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4711687	4711687	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4711687T>C	uc002fzc.2	+	4	460	c.359T>C	c.(358-360)TTG>TCG	p.L120S	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.L120S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	120	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4721823	4721823	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4721823C>T	uc002fzc.2	+	20	2145	c.2044C>T	c.(2044-2046)CCC>TCC	p.P682S	PLD2_uc002fzd.2_Missense_Mutation_p.P682S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	682	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4722429	4722429	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4722429G>T	uc002fzc.2	+	22	2325	c.2224G>T	c.(2224-2226)GGA>TGA	p.G742*	PLD2_uc002fzd.2_Nonsense_Mutation_p.G742*	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	742	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---
MINK1	50488	broad.mit.edu	37	17	4796870	4796870	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4796870A>C	uc010vsl.1	+	21	2738	c.2542A>C	c.(2542-2544)AGC>CGC	p.S848R	MINK1_uc010vsk.1_Missense_Mutation_p.S819R|MINK1_uc010vsm.1_Missense_Mutation_p.S828R|MINK1_uc010vsn.1_Missense_Mutation_p.S811R|MINK1_uc010vso.1_Missense_Mutation_p.S756R|MINK1_uc010vsp.1_Missense_Mutation_p.S309R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	848					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
C17orf107	100130311	broad.mit.edu	37	17	4804281	4804281	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4804281T>C	uc002fzl.3	+	3					CHRNE_uc002fzk.1_Intron	NM_001145536	NP_001139008			hypothetical protein LOC100130311												0																		---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4848061	4848061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4848061G>A	uc002fzq.2	+	11	1219	c.803G>A	c.(802-804)TGC>TAC	p.C268Y	RNF167_uc002fzr.2_Missense_Mutation_p.C268Y|RNF167_uc002fzs.2_Missense_Mutation_p.C268Y|RNF167_uc002fzt.2_Missense_Mutation_p.C268Y|RNF167_uc002fzu.2_Missense_Mutation_p.C267Y|RNF167_uc002fzv.2_Missense_Mutation_p.C233Y|RNF167_uc002fzx.2_Missense_Mutation_p.C232Y|RNF167_uc002fzy.2_Missense_Mutation_p.C67Y	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	268	RING-type; atypical.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4905895	4905895	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4905895A>G	uc002gan.1	+	7	892	c.566A>G	c.(565-567)TAC>TGC	p.Y189C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	189	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2																		---	---	---	---
GPR172B	55065	broad.mit.edu	37	17	4937093	4937093	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4937093G>A	uc002gap.3	-	3	1404	c.691C>T	c.(691-693)CCT>TCT	p.P231S	GPR172B_uc002gao.3_Missense_Mutation_p.P231S|GPR172B_uc010ckw.2_Missense_Mutation_p.P109S|GPR172B_uc010ckx.2_Missense_Mutation_p.P231S	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	231						integral to plasma membrane	receptor activity|riboflavin transporter activity				0																		---	---	---	---
USP6	9098	broad.mit.edu	37	17	5039162	5039162	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5039162T>C	uc002gau.1	+	17	2833	c.603T>C	c.(601-603)CCT>CCC	p.P201P	USP6_uc002gav.1_Silent_p.P201P|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	201	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5041418	5041418	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5041418C>T	uc002gau.1	+	21	3158	c.928C>T	c.(928-930)CGC>TGC	p.R310C	USP6_uc002gav.1_Missense_Mutation_p.R310C|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	310					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
USP6	9098	broad.mit.edu	37	17	5071427	5071427	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5071427C>T	uc002gau.1	+						USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron	NM_004505	NP_004496			ubiquitin specific protease 6						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085839	5085839	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5085839A>G	uc010cla.1	-	2	1869	c.1713T>C	c.(1711-1713)AAT>AAC	p.N571N		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	571	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5276735	5276735	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5276735C>A	uc002gbm.3	+	13	2235	c.2011C>A	c.(2011-2013)CCA>ACA	p.P671T	RABEP1_uc010clc.1_Missense_Mutation_p.P664T|RABEP1_uc010cld.1_Missense_Mutation_p.P628T|RABEP1_uc010vsw.1_Missense_Mutation_p.P628T|RABEP1_uc002gbl.3_Missense_Mutation_p.P671T|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	671	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
C1QBP	708	broad.mit.edu	37	17	5338255	5338255	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5338255T>C	uc002gby.1	-	3	493	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	139					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1																		---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5436169	5436169	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5436169A>G	uc002gci.2	-	11	3824	c.3269T>C	c.(3268-3270)GTA>GCA	p.V1090A	NLRP1_uc002gcg.1_Missense_Mutation_p.V1094A|NLRP1_uc002gck.2_Missense_Mutation_p.V1090A|NLRP1_uc002gcj.2_Missense_Mutation_p.V1060A|NLRP1_uc002gcl.2_Missense_Mutation_p.V1060A|NLRP1_uc002gch.3_Missense_Mutation_p.V1090A|NLRP1_uc010clh.2_Missense_Mutation_p.V1090A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1090					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)																---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5984004	5984004	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5984004A>G	uc010cli.2	+	2	405	c.26A>G	c.(25-27)CAG>CGG	p.Q9R	WSCD1_uc002gcn.2_Missense_Mutation_p.Q9R|WSCD1_uc002gco.2_Missense_Mutation_p.Q9R|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	9						integral to membrane	sulfotransferase activity				0																		---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021338	6021338	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6021338G>A	uc010cli.2	+	8	1584	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	WSCD1_uc002gcn.2_Missense_Mutation_p.S402N|WSCD1_uc002gco.2_Missense_Mutation_p.S402N|WSCD1_uc010clj.2_Missense_Mutation_p.S93N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity				0																		---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6329092	6329092	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6329092G>A	uc002gcp.2	-	6	938	c.843C>T	c.(841-843)GCC>GCT	p.A281A	AIPL1_uc002gcq.2_Silent_p.A221A|AIPL1_uc002gcr.2_Silent_p.A218A|AIPL1_uc010clk.2_Silent_p.A259A|AIPL1_uc010cll.2_Silent_p.A257A|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	281	TPR 3.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)														---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6377778	6377778	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6377778C>T	uc002gdd.3	-	10	1383	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	PITPNM3_uc010cln.2_Missense_Mutation_p.R375Q|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Missense_Mutation_p.R2Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	411	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)														---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6483063	6483063	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6483063G>A	uc002gde.3	-	19					KIAA0753_uc010vtd.1_3'UTR|KIAA0753_uc010clo.2_3'UTR|KIAA0753_uc010vte.1_3'UTR	NM_014804	NP_055619			hypothetical protein LOC9851							centrosome					0				COAD - Colon adenocarcinoma(228;0.157)														---	---	---	---
FBXO39	162517	broad.mit.edu	37	17	6683582	6683582	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6683582A>G	uc010vtg.1	+	2	515	c.395A>G	c.(394-396)CAA>CGA	p.Q132R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	132										ovary(1)|skin(1)	2																		---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6909216	6909216	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6909216C>A	uc002gdx.3	+	10	1341	c.1288C>A	c.(1288-1290)CGT>AGT	p.R430S	uc002gdy.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	430	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1																		---	---	---	---
RNASEK	440400	broad.mit.edu	37	17	6916011	6916011	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6916011G>T	uc002gea.2	+	1	214	c.9G>T	c.(7-9)TCG>TCT	p.S3S	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank	NM_001004333	NP_001004333	Q6P5S7	RNK_HUMAN	ribonuclease kappa	3					rRNA transcription	integral to membrane	endoribonuclease activity				0																		---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927709	6927709	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6927709A>G	uc002geg.2	+						BCL6B_uc010clt.1_Intron	NM_181844	NP_862827			B-cell CLL/lymphoma 6, member B (zinc finger							nucleus	zinc ion binding			skin(1)	1																		---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7229645	7229645	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7229645C>T	uc002gga.1	-	6	1229	c.1222G>A	c.(1222-1224)GGC>AGC	p.G408S	NEURL4_uc002ggb.1_Missense_Mutation_p.G408S|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	408	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7351977	7351977	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7351977A>T	uc002ghb.2	+	7	731	c.690A>T	c.(688-690)GGA>GGT	p.G230G	CHRNB1_uc010vty.1_Silent_p.G158G|CHRNB1_uc010vtz.1_Silent_p.G64G	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	230	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)																---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7468286	7468286	+	Translation_Start_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7468286C>T	uc002gho.1	+	1	11	c.-1314C>T	c.(-1316--1312)GACGA>GATGA		SENP3_uc002ghm.2_Silent_p.D322D|SENP3_uc002ghn.1_Silent_p.D157D	NM_001416	NP_001407			eukaryotic translation initiation factor 4A						nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7604986	7604986	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7604986G>A	uc010vuh.1	+	7	989	c.834G>A	c.(832-834)ACG>ACA	p.T278T	WRAP53_uc010vui.1_Silent_p.T278T|WRAP53_uc002gip.2_Silent_p.T278T|WRAP53_uc002gir.2_Silent_p.T278T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T245T|WRAP53_uc010vuj.1_Silent_p.T59T	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	278	WD 3.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0																		---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7710589	7710589	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7710589C>T	uc002giu.1	+	61	9578	c.9564C>T	c.(9562-9564)CGC>CGT	p.R3188R	DNAH2_uc010cnm.1_Silent_p.R126R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3188	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727218	7727218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727218G>A	uc002giu.1	+	74	11410	c.11396G>A	c.(11395-11397)CGC>CAC	p.R3799H	DNAH2_uc010cnm.1_Missense_Mutation_p.R737H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3799					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727556	7727556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7727556G>A	uc002giu.1	+	75	11610	c.11596G>A	c.(11596-11598)GCC>ACC	p.A3866T	DNAH2_uc010cnm.1_Missense_Mutation_p.A804T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3866	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7734400	7734400	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7734400C>T	uc002giu.1	+						DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7736077	7736077	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7736077A>C	uc002giu.1	+							NM_020877	NP_065928			dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7814196	7814196	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7814196C>T	uc002gje.2	+	39	5936	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CHD3_uc002gjd.2_Missense_Mutation_p.P1988L|CHD3_uc002gjf.2_Missense_Mutation_p.P1895L|CHD3_uc002gjh.2_Missense_Mutation_p.P506L|CHD3_uc002gjj.2_Missense_Mutation_p.P92L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1929	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7842846	7842846	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7842846G>T	uc002gjq.2	+	9	1862	c.943G>T	c.(943-945)GCT>TCT	p.A315S	CNTROB_uc002gjp.2_Missense_Mutation_p.A315S|CNTROB_uc002gjr.2_Missense_Mutation_p.A217S|CNTROB_uc010vum.1_Missense_Mutation_p.A27S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	315	Potential.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7906918	7906918	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7906918G>A	uc002gjt.2	+	2	627	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	185	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7907379	7907379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7907379C>T	uc002gjt.2	+	3	1005	c.931C>T	c.(931-933)CTC>TTC	p.L311F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	311	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
ALOX15B	247	broad.mit.edu	37	17	7951813	7951813	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7951813G>A	uc002gju.2	+	14	2077	c.1961G>A	c.(1960-1962)CGG>CAG	p.R654Q	ALOX15B_uc002gjv.2_Missense_Mutation_p.R625Q|ALOX15B_uc002gjw.2_Missense_Mutation_p.R580Q|ALOX15B_uc010vun.1_Missense_Mutation_p.R642Q|ALOX15B_uc010cnp.2_Missense_Mutation_p.R460Q	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	654	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1																		---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8167098	8167098	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8167098G>A	uc002gkr.2	+	15	1776	c.1635G>A	c.(1633-1635)GGG>GGA	p.G545G	PFAS_uc010vuv.1_Silent_p.G121G|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	545					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8168393	8168393	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8168393G>A	uc002gkr.2	+	18	2371	c.2230G>A	c.(2230-2232)GTG>ATG	p.V744M	PFAS_uc010vuv.1_Missense_Mutation_p.V320M|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	744					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215626	8215626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8215626C>T	uc002glc.2	+	2	390	c.269C>T	c.(268-270)TCC>TTC	p.S90F	ARHGEF15_uc002glb.1_Missense_Mutation_p.S90F|ARHGEF15_uc002gld.2_Missense_Mutation_p.S90F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S90F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	90	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8422252	8422252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8422252G>A	uc002gll.2	-	18	2293	c.2197C>T	c.(2197-2199)CCA>TCA	p.P733S	MYH10_uc002glm.2_Missense_Mutation_p.P764S|MYH10_uc010cnx.2_Missense_Mutation_p.P742S	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	733	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
USP43	124739	broad.mit.edu	37	17	9586272	9586272	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9586272G>A	uc010cod.2	+	7	1238	c.1238G>A	c.(1237-1239)AGC>AAC	p.S413N	USP43_uc002gma.3_Missense_Mutation_p.S102N|USP43_uc010vva.1_Missense_Mutation_p.S413N|USP43_uc010coe.2_Missense_Mutation_p.S210N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10219346	10219346	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10219346T>C	uc002gmk.1	-							NM_003802	NP_003793			myosin, heavy polypeptide 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10227392	10227392	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10227392G>T	uc002gmk.1	-	23	2971	c.2881C>A	c.(2881-2883)CTG>ATG	p.L961M	MYH13_uc010vve.1_Missense_Mutation_p.L59M	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	961	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10261071	10261071	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10261071T>C	uc002gmk.1	-	8	809	c.719A>G	c.(718-720)AAT>AGT	p.N240S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	240	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10322295	10322295	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10322295T>C	uc002gmm.2	-	4	358	c.263A>G	c.(262-264)GAC>GGC	p.D88G	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	88	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10323492	10323492	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10323492T>C	uc002gmm.2	-	3	148	c.53A>G	c.(52-54)TAC>TGC	p.Y18C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	18	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10358102	10358102	+	Missense_Mutation	SNP	T	A	A	rs112990048		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10358102T>A	uc002gmn.2	-	22	2572	c.2461A>T	c.(2461-2463)AAC>TAC	p.N821Y	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	821					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10398373	10398373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10398373C>T	uc002gmo.2	-	37	5435	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1781	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10402051	10402051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10402051T>C	uc002gmo.2	-	30	4167	c.4073A>G	c.(4072-4074)AAG>AGG	p.K1358R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1358	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446487	10446487	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10446487A>G	uc010coi.2	-						uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582			myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10448771	10448771	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10448771G>T	uc010coi.2	-	5	525	c.397C>A	c.(397-399)CCT>ACT	p.P133T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P133T|MYH2_uc010coj.2_Missense_Mutation_p.P133T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	133	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10535851	10535851	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10535851G>T	uc002gmq.1	-	33	4975	c.4898C>A	c.(4897-4899)GCC>GAC	p.A1633D		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1633	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10539158	10539158	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10539158C>T	uc002gmq.1	-	28	3946	c.3869G>A	c.(3868-3870)CGT>CAT	p.R1290H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1290	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
PIRT	644139	broad.mit.edu	37	17	10728777	10728777	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10728777G>A	uc010col.2	-	2	481	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of	62	Helical; (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11554567	11554567	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11554567T>C	uc002gne.2	+	13	2347	c.2279T>C	c.(2278-2280)TTA>TCA	p.L760S	DNAH9_uc010coo.2_Missense_Mutation_p.L54S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	760	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572398	11572398	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11572398A>G	uc002gne.2	+	16	2817	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	DNAH9_uc010coo.2_Missense_Mutation_p.T211A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	917	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
HS3ST3B1	9953	broad.mit.edu	37	17	14204913	14204913	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14204913G>A	uc002goh.1	+	1	408	c.78G>A	c.(76-78)CCG>CCA	p.P26P	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	26	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	14683188	14683188	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14683188A>G								HS3ST3B1 (433696 upstream) : PMP22 (449909 downstream)																																			---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15539514	15539514	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15539514C>T	uc002gox.2	-	6	1242	c.685G>A	c.(685-687)GCC>ACC	p.A229T	TRIM16_uc002gor.1_Missense_Mutation_p.A229T|TRIM16_uc002gow.2_Missense_Mutation_p.A13T|TRIM16_uc002goy.2_Missense_Mutation_p.A99T	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	229					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)														---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15906111	15906111	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15906111C>T	uc002gph.1	+	4	809	c.791C>T	c.(790-792)GCC>GTC	p.A264V	TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	143	TPR 1.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16022749	16022749	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16022749C>T	uc002gpo.2	-	17	2143	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	NCOR1_uc002gpn.2_Missense_Mutation_p.V635I|NCOR1_uc002gpp.1_Missense_Mutation_p.V526I|NCOR1_uc002gpr.2_Missense_Mutation_p.V526I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	635	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16024445	16024445	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16024445G>A	uc002gpo.2	-	16	2013	c.1773C>T	c.(1771-1773)AAC>AAT	p.N591N	NCOR1_uc002gpn.2_Silent_p.N591N|NCOR1_uc002gpp.1_Silent_p.N482N|NCOR1_uc002gpr.2_Silent_p.N482N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	591					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16075115	16075115	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16075115A>G	uc002gpo.2	-	4	675	c.435_splice	c.e4+1	p.K145_splice	NCOR1_uc002gpn.2_Splice_Site_p.K145_splice|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Splice_Site_p.K145_splice|NCOR1_uc010coz.1_Splice_Site|NCOR1_uc010cpb.1_Splice_Site_p.K145_splice|NCOR1_uc010cpa.1_Splice_Site_p.K145_splice|NCOR1_uc002gpu.2_Splice_Site_p.K145_splice	NM_006311	NP_006302			nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
CENPV	201161	broad.mit.edu	37	17	16246220	16246220	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16246220G>A	uc002gpw.2	-	5	792	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_181716	NP_859067	Q7Z7K6	CENPV_HUMAN	proline rich 6	247					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity				0																		---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335120	16335120	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16335120G>A	uc002gpy.2	+	11	1977	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	TRPV2_uc002gpz.2_Missense_Mutation_p.R107H	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	537	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16527781	16527781	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16527781T>G	uc010cpi.1	-	6	502	c.419A>C	c.(418-420)AAG>ACG	p.K140T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16612506	16612506	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16612506C>T	uc002gqk.1	+	5	1211	c.1135C>T	c.(1135-1137)CCA>TCA	p.P379S	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	379											0																		---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17057612	17057612	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17057612C>A	uc002gqu.1	+						MPRIP_uc002gqv.1_Intron|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431			myosin phosphatase-Rho interacting protein							cytoplasm|cytoskeleton	actin binding				0																		---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17179427	17179427	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17179427G>A	uc002grd.2	-	2	198	c.107C>T	c.(106-108)GCG>GTG	p.A36V	COPS3_uc010vwv.1_Missense_Mutation_p.A16V|COPS3_uc010vww.1_5'UTR	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	36					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1																		---	---	---	---
PEMT	10400	broad.mit.edu	37	17	17412796	17412796	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17412796T>C	uc002grj.2	-	5	486	c.419A>G	c.(418-420)AAC>AGC	p.N140S	PEMT_uc002grk.2_Missense_Mutation_p.N140S|PEMT_uc002grl.2_Missense_Mutation_p.N177S|PEMT_uc010vwx.1_Missense_Mutation_p.N177S	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	140					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)														---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17721053	17721053	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17721053C>T	uc002gru.1	-	7	1555	c.1361G>A	c.(1360-1362)GGC>GAC	p.G454D	SREBF1_uc002grp.1_Missense_Mutation_p.A24T|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.G200D|SREBF1_uc002grs.1_Missense_Mutation_p.G430D|SREBF1_uc002grt.1_Missense_Mutation_p.G484D|SREBF1_uc010cpp.1_Missense_Mutation_p.G430D|SREBF1_uc010cpq.1_Missense_Mutation_p.G454D	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	454	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1																		---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17887240	17887240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17887240G>A	uc010vxd.1	+	5	638	c.259G>A	c.(259-261)GCA>ACA	p.A87T	LRRC48_uc002gsa.2_Missense_Mutation_p.A87T|LRRC48_uc010vxc.1_Missense_Mutation_p.A87T|LRRC48_uc002gsb.2_Missense_Mutation_p.A87T	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	87	LRR 2.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)																	---	---	---	---
DRG2	1819	broad.mit.edu	37	17	17997252	17997252	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17997252C>T	uc002gsh.1	+	2	245	c.190C>T	c.(190-192)CGT>TGT	p.R64C	DRG2_uc010vxg.1_Missense_Mutation_p.R64C|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R64C	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	64					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023508	18023508	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18023508A>G	uc010vxh.1	+	2	1732	c.1394A>G	c.(1393-1395)AAG>AGG	p.K465R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	465	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18039118	18039118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18039118G>A	uc010vxh.1	+	12	4914	c.4576G>A	c.(4576-4578)GCC>ACC	p.A1526T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18082167	18082167	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18082167G>A	uc010vxh.1	+	65	10914	c.10576G>A	c.(10576-10578)GAG>AAG	p.E3526K	uc002gsn.2_Intron|MYO15A_uc010vxi.1_3'UTR|MYO15A_uc002gsl.2_3'UTR|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3526	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18143909	18143909	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18143909A>G	uc002gsp.2	+	17	2285	c.2224A>G	c.(2224-2226)ACC>GCC	p.T742A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	742	WD 11.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)																	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18188810	18188810	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18188810T>C	uc002gsx.1	-	14	1851	c.1622A>G	c.(1621-1623)CAC>CGC	p.H541R	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Missense_Mutation_p.H71R|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.H439R	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	541					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18205934	18205934	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18205934G>A	uc002gsx.1	-	6	832	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	201					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18233876	18233876	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18233876G>A	uc002gta.2	-	10	1354	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	SHMT1_uc002gsz.2_Silent_p.T163T|SHMT1_uc002gtb.2_Silent_p.T349T|SHMT1_uc010cqb.2_Silent_p.T388T|SHMT1_uc010vxt.1_Silent_p.T250T	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638407	18638407	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18638407C>T	uc002gug.1	+	10	1368	c.681C>T	c.(679-681)GGC>GGT	p.G227G	TRIM16L_uc010vyf.1_Silent_p.G281G|TRIM16L_uc002guh.1_Silent_p.G227G|TRIM16L_uc010cqg.1_Silent_p.G329G|TRIM16L_uc002gui.1_Silent_p.G227G|TRIM16L_uc010vyg.1_Silent_p.G227G|TRIM16L_uc010vyh.1_Missense_Mutation_p.A140V	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	227	B30.2/SPRY.					cytoplasm					0																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874741	18874741	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874741G>A	uc002guw.2	-	6	2570	c.2403C>T	c.(2401-2403)GGC>GGT	p.G801G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874742	18874742	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18874742C>T	uc002guw.2	-	6	2569	c.2402G>A	c.(2401-2403)GGC>GAC	p.G801D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	801										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18881506	18881506	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18881506G>A	uc002guw.2	-	5	1640	c.1473C>T	c.(1471-1473)AAC>AAT	p.N491N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	491	Pro-rich.									ovary(1)|central_nervous_system(1)	2																		---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19237382	19237382	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19237382C>T	uc002gvd.3	+	11	2189	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S	EPN2_uc002gve.3_Missense_Mutation_p.P524S|EPN2_uc002gvf.3_Missense_Mutation_p.P296S|EPN2_uc010vyo.1_Missense_Mutation_p.P289S|EPN2_uc010vyp.1_Missense_Mutation_p.P517S|EPN2_uc010vyq.1_Missense_Mutation_p.P518S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Intron	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	581	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284296	19284296	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284296G>A	uc002gvn.2	+	4	1160	c.774G>A	c.(772-774)CGG>CGA	p.R258R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R119R|MAPK7_uc002gvq.2_Silent_p.R258R|MAPK7_uc002gvp.2_Silent_p.R258R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	258	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)																	---	---	---	---
RNF112	7732	broad.mit.edu	37	17	19319055	19319055	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19319055T>A	uc010vyw.1	+	14	1662	c.1463T>A	c.(1462-1464)GTC>GAC	p.V488D	RNF112_uc010vyv.1_Missense_Mutation_p.V489D	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	488							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19470491	19470491	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19470491G>A	uc002gvy.1	+	14	1345	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	SLC47A1_uc002gvx.2_Missense_Mutation_p.G420D|SLC47A1_uc010vyz.1_Missense_Mutation_p.G397D|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G225D|SLC47A1_uc010vza.1_Missense_Mutation_p.G132D|SLC47A1_uc010vzb.1_Missense_Mutation_p.G154D|SLC47A1_uc010vzc.1_Missense_Mutation_p.G92D	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	420	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19679710	19679710	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19679710A>G	uc002gwm.3	-	27	3572	c.3063T>C	c.(3061-3063)AGT>AGC	p.S1021S	ULK2_uc002gwn.2_Silent_p.S1021S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	1021					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19705207	19705207	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19705207T>C	uc002gwm.3	-	16	1833	c.1324A>G	c.(1324-1326)AGC>GGC	p.S442G	ULK2_uc002gwn.2_Missense_Mutation_p.S442G	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	442					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
AKAP10	11216	broad.mit.edu	37	17	19827780	19827780	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19827780C>G	uc002gwo.2	-	11	1829	c.1692G>C	c.(1690-1692)GCG>GCC	p.A564A	AKAP10_uc002gwp.1_Silent_p.A564A|AKAP10_uc010cqw.1_Silent_p.A506A	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	564					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)																	---	---	---	---
CYTSB	92521	broad.mit.edu	37	17	20135555	20135555	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20135555A>T	uc002gwq.2	+	7	2333	c.2188A>T	c.(2188-2190)ACC>TCC	p.T730S	CYTSB_uc010cqx.2_Missense_Mutation_p.T730S|CYTSB_uc002gwr.2_Missense_Mutation_p.T730S|CYTSB_uc002gws.2_Missense_Mutation_p.T730S|CYTSB_uc002gwv.2_Missense_Mutation_p.T649S|CYTSB_uc010vzf.1_Missense_Mutation_p.T70S|CYTSB_uc002gww.2_Missense_Mutation_p.T506S|CYTSB_uc002gwt.2_Missense_Mutation_p.T649S|CYTSB_uc002gwu.2_Missense_Mutation_p.T649S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	730	Potential.					nucleus					0																		---	---	---	---
CCDC144NL	339184	broad.mit.edu	37	17	20799218	20799218	+	Missense_Mutation	SNP	T	C	C	rs139153464	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20799218T>C	uc002gyf.2	-	1	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	39											0																		---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21204191	21204191	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21204191C>T	uc002gys.2	+	5	550	c.285C>T	c.(283-285)ATC>ATT	p.I95I	MAP2K3_uc002gyt.2_Silent_p.I66I|MAP2K3_uc002gyu.2_Silent_p.I66I	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	95	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)														---	---	---	---
NLK	51701	broad.mit.edu	37	17	26449711	26449711	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966990	26966990	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26966990T>C	uc002hbu.2	-	9	1043	c.944A>G	c.(943-945)GAT>GGT	p.D315G	KIAA0100_uc002hbv.2_Missense_Mutation_p.D315G|KIAA0100_uc010crr.1_Missense_Mutation_p.D172G	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	315						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26970214	26970214	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26970214A>C	uc002hbu.2	-	4	463	c.364T>G	c.(364-366)TTC>GTC	p.F122V	KIAA0100_uc002hbv.2_Missense_Mutation_p.F122V|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	122						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27014479	27014479	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27014479A>G	uc002hby.2	+	23	3086	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	SUPT6H_uc010crt.2_Missense_Mutation_p.H999R|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	999					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27061177	27061177	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27061177C>T	uc002hcp.2	+	2	224	c.224C>T	c.(223-225)GCC>GTC	p.A75V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	75	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)																	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27076177	27076177	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27076177G>A	uc002hcs.2	+	7	1103	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	332	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)															---	---	---	---
TIAF1	9220	broad.mit.edu	37	17	27400906	27400906	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27400906G>A	uc002hdv.1	-	1	1722	c.312C>T	c.(310-312)GAC>GAT	p.D104D	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	104					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27437573	27437573	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27437573C>T	uc002hdt.1	-	18	3126	c.2968G>A	c.(2968-2970)GGC>AGC	p.G990S	MYO18A_uc010wbc.1_Missense_Mutation_p.G532S|MYO18A_uc002hds.2_Missense_Mutation_p.G532S|MYO18A_uc010csa.1_Missense_Mutation_p.G990S|MYO18A_uc002hdu.1_Missense_Mutation_p.G990S|MYO18A_uc010wbd.1_Missense_Mutation_p.G659S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	990	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27442812	27442812	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27442812C>A	uc002hdt.1	-	12	2255	c.2097G>T	c.(2095-2097)GCG>GCT	p.A699A	MYO18A_uc010wbc.1_Silent_p.A241A|MYO18A_uc002hds.2_Silent_p.A241A|MYO18A_uc010csa.1_Silent_p.A699A|MYO18A_uc002hdu.1_Silent_p.A699A|MYO18A_uc010wbd.1_Silent_p.A368A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	699	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27794194	27794194	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27794194C>T	uc002hdz.1	+	3	358	c.164C>T	c.(163-165)GCC>GTC	p.A55V	TAOK1_uc010wbe.1_Missense_Mutation_p.A55V|TAOK1_uc010wbf.1_Missense_Mutation_p.A55V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	55	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818822	27818822	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818822T>C	uc002hdz.1	+	10	964	c.770T>C	c.(769-771)TTT>TCT	p.F257S	TAOK1_uc010wbe.1_Missense_Mutation_p.F257S|TAOK1_uc010wbf.1_Missense_Mutation_p.F257S|TAOK1_uc002heb.1_Missense_Mutation_p.F83S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	257	Protein kinase.			F -> S (in Ref. 1; AAG38502).	mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818871	27818871	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818871G>T	uc002hdz.1	+	10	1013	c.819G>T	c.(817-819)GAG>GAT	p.E273D	TAOK1_uc010wbe.1_Missense_Mutation_p.E273D|TAOK1_uc010wbf.1_Missense_Mutation_p.E273D|TAOK1_uc002heb.1_Missense_Mutation_p.E99D	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	273	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27901720	27901720	+	Nonstop_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27901720T>C	uc002hef.2	-	20	2500	c.2286A>G	c.(2284-2286)TGA>TGG	p.*762W	GIT1_uc002heg.2_Nonstop_Mutation_p.*771W|GIT1_uc010wbg.1_Nonstop_Mutation_p.*748W|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	762					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)														---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27939735	27939735	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27939735G>A	uc002hei.2	+	13	1590	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	ANKRD13B_uc002heh.2_Missense_Mutation_p.G361S|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.G3S	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	493											0																		---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27948258	27948258	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27948258A>T	uc002hel.2	-	1	184	c.182T>A	c.(181-183)GTC>GAC	p.V61D		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	61					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959499	27959499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27959499G>A	uc002heo.1	-	15	2632	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W	SSH2_uc010wbh.1_Missense_Mutation_p.R905W	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	878					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27977756	27977756	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27977756T>C	uc002heo.1	-	12	1061	c.1061A>G	c.(1060-1062)TAT>TGT	p.Y354C	SSH2_uc010wbh.1_Missense_Mutation_p.Y381C|SSH2_uc002hep.1_Missense_Mutation_p.Y354C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	354	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27999065	27999065	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27999065C>T	uc002heo.1	-	8	616	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SSH2_uc010wbh.1_Missense_Mutation_p.V233M|SSH2_uc002hep.1_Missense_Mutation_p.V206M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	206					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28538348	28538348	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)													---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712243	28712243	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712243A>G	uc002hfb.1	+	2	998	c.983A>G	c.(982-984)TAT>TGT	p.Y328C	CPD_uc010wbo.1_Missense_Mutation_p.Y81C|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	328	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28712247	28712247	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712247T>C	uc002hfb.1	+	2	1002	c.987T>C	c.(985-987)GAT>GAC	p.D329D	CPD_uc010wbo.1_Silent_p.D82D|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	329	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28791791	28791791	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28791791A>G	uc002hfb.1	+	21	4117	c.4102A>G	c.(4102-4104)ACA>GCA	p.T1368A	CPD_uc010wbo.1_Missense_Mutation_p.T1121A|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1368	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
GOSR1	9527	broad.mit.edu	37	17	28808272	28808272	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28808272A>G	uc002hfe.2	+	2	169	c.143A>G	c.(142-144)GAC>GGC	p.D48G	GOSR1_uc002hfd.2_Missense_Mutation_p.D48G|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.D48G	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	48	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0																		---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29161368	29161368	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29161368T>C	uc002hfs.1	+	2	615	c.269T>C	c.(268-270)GTA>GCA	p.V90A	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	90					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---
C17orf42	79736	broad.mit.edu	37	17	29231212	29231212	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29231212A>G	uc002hfu.2	-	2	437	c.367T>C	c.(367-369)TAT>CAT	p.Y123H	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.Y123H|C17orf42_uc010wbs.1_Missense_Mutation_p.Y123H	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	123					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)																---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29283258	29283258	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29283258G>T	uc002hfx.2	+	10	1162	c.883_splice	c.e10-1	p.D295_splice	ADAP2_uc010csk.2_Splice_Site_p.D301_splice|ADAP2_uc002hfy.2_Splice_Site_p.D294_splice|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874			centaurin-alpha 2 protein						heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1																		---	---	---	---
NF1	4763	broad.mit.edu	37	17	29653192	29653192	+	Silent	SNP	C	A	A	rs143230984		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29653192C>A	uc002hgg.2	+	37	5523	c.5190C>A	c.(5188-5190)ACC>ACA	p.T1730T	NF1_uc002hgh.2_Silent_p.T1709T|NF1_uc002hgi.1_Silent_p.T742T|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1730	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30200688	30200688	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30200688A>G	uc002hgr.2	-						UTP6_uc002hgq.2_Intron|UTP6_uc010cst.2_Intron	NM_018428	NP_060898			hepatocellular carcinoma-associated antigen 66						rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348561	30348561	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348561A>G	uc002hgu.2	+	1	407	c.396A>G	c.(394-396)CCA>CCG	p.P132P	LRRC37B_uc010wbx.1_Silent_p.P50P|LRRC37B_uc010csu.2_Silent_p.P132P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	132	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348993	30348993	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348993G>A	uc002hgu.2	+	1	839	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	LRRC37B_uc010wbx.1_Silent_p.Q194Q|LRRC37B_uc010csu.2_Silent_p.Q276Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	276	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30349701	30349701	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30349701G>C	uc002hgu.2	+	1	1547	c.1536G>C	c.(1534-1536)CAG>CAC	p.Q512H	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q430H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q512H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	512	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)																---	---	---	---
C17orf75	64149	broad.mit.edu	37	17	30662406	30662406	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30662406A>G	uc002hhg.2	-	6	636	c.605T>C	c.(604-606)GTT>GCT	p.V202A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	202					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692341	30692341	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692341C>A	uc002hhh.3	+						ZNF207_uc002hhj.3_Intron|ZNF207_uc002hhi.3_Intron|ZNF207_uc010csz.2_Intron|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_Intron	NM_003457	NP_003448			zinc finger protein 207 isoform a							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30692444	30692444	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30692444A>T	uc002hhh.3	+	7	866	c.718A>T	c.(718-720)ACA>TCA	p.T240S	ZNF207_uc002hhj.3_Missense_Mutation_p.T256S|ZNF207_uc002hhi.3_Missense_Mutation_p.T256S|ZNF207_uc010csz.2_Missense_Mutation_p.T259S|ZNF207_uc002hhk.1_Missense_Mutation_p.T256S|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30986316	30986316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30986316G>A	uc002hho.1	-	17	2174	c.2162C>T	c.(2161-2163)ACC>ATC	p.T721I	MYO1D_uc002hhp.1_Missense_Mutation_p.T721I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	721	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)													OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCL8	6355	broad.mit.edu	37	17	32646550	32646550	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32646550G>A	uc002hib.2	+	1	485	c.30G>A	c.(28-30)CTG>CTA	p.L10L		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	10					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)																---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32959781	32959781	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32959781A>G	uc002hif.2	+	7	1599	c.1271A>G	c.(1270-1272)AAC>AGC	p.N424S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	424	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---
CCT6B	10693	broad.mit.edu	37	17	33266714	33266714	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33266714A>G	uc002hig.2	-	9	1081	c.987T>C	c.(985-987)GGT>GGC	p.G329G	CCT6B_uc010ctg.2_Silent_p.G292G|CCT6B_uc010wcc.1_Silent_p.G284G	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	329					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)																---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33585998	33585998	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33585998A>T	uc002hjf.3	+	2	406	c.289A>T	c.(289-291)ATT>TTT	p.I97F	SLFN5_uc002hje.2_Missense_Mutation_p.I97F|SLFN5_uc010wcg.1_Missense_Mutation_p.I97F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	97					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680045	33680045	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680045T>C	uc010ctp.2	-	7	2478	c.2036A>G	c.(2035-2037)GAC>GGC	p.D679G	SLFN11_uc010ctq.2_Missense_Mutation_p.D679G|SLFN11_uc002hjh.3_Missense_Mutation_p.D679G|SLFN11_uc002hjg.3_Missense_Mutation_p.D679G|SLFN11_uc010ctr.2_Missense_Mutation_p.D679G	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	679						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33680106	33680106	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33680106A>G	uc010ctp.2	-	7	2417	c.1975T>C	c.(1975-1977)TTT>CTT	p.F659L	SLFN11_uc010ctq.2_Missense_Mutation_p.F659L|SLFN11_uc002hjh.3_Missense_Mutation_p.F659L|SLFN11_uc002hjg.3_Missense_Mutation_p.F659L|SLFN11_uc010ctr.2_Missense_Mutation_p.F659L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	659						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SLFN13	146857	broad.mit.edu	37	17	33772396	33772396	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33772396C>T	uc002hjk.1	-	1	634	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SLFN13_uc010wch.1_Missense_Mutation_p.G102R|SLFN13_uc002hjl.2_Missense_Mutation_p.G102R|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_5'UTR	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	102						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34073121	34073121	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34073121G>A	uc002hjv.1	-	6	1423	c.1395C>T	c.(1393-1395)GCC>GCT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	465					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
C17orf66	256957	broad.mit.edu	37	17	34183196	34183196	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34183196T>C	uc002hke.1	-	13	1408	c.1259A>G	c.(1258-1260)CAG>CGG	p.Q420R	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q380R|C17orf66_uc010wcm.1_3'UTR	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	420							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)														---	---	---	---
ACACA	31	broad.mit.edu	37	17	35601597	35601597	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35601597G>A	uc002hnm.2	-	21	2729	c.2538C>T	c.(2536-2538)GGC>GGT	p.G846G	ACACA_uc002hnk.2_Silent_p.G768G|ACACA_uc002hnl.2_Silent_p.G788G|ACACA_uc002hnn.2_Silent_p.G846G|ACACA_uc002hno.2_Silent_p.G883G|ACACA_uc010cuz.2_Silent_p.G846G	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	846					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
DUSP14	11072	broad.mit.edu	37	17	35872915	35872915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35872915G>A	uc002hnx.2	+	3	835	c.541G>A	c.(541-543)GTT>ATT	p.V181I	DUSP14_uc002hny.2_Missense_Mutation_p.V168I|DUSP14_uc002hnz.2_Missense_Mutation_p.V168I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	181							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35914085	35914085	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35914085T>C	uc002hoa.2	-	14	1823	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	SYNRG_uc010wde.1_Silent_p.S502S|SYNRG_uc010wdf.1_Silent_p.S502S|SYNRG_uc002hoc.2_Silent_p.S501S|SYNRG_uc002hoe.2_Silent_p.S502S|SYNRG_uc002hod.2_Silent_p.S502S|SYNRG_uc010wdg.1_Silent_p.S419S|SYNRG_uc002hob.2_Silent_p.S580S|SYNRG_uc002hof.2_Silent_p.S292S|SYNRG_uc010cvd.1_Silent_p.S380S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	580	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35931915	35931915	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35931915A>G	uc002hoa.2	-	9	1156	c.1073T>C	c.(1072-1074)GTT>GCT	p.V358A	SYNRG_uc010wde.1_Missense_Mutation_p.V280A|SYNRG_uc010wdf.1_Missense_Mutation_p.V280A|SYNRG_uc002hoc.2_Missense_Mutation_p.V279A|SYNRG_uc002hoe.2_Missense_Mutation_p.V280A|SYNRG_uc002hod.2_Missense_Mutation_p.V280A|SYNRG_uc010wdg.1_Missense_Mutation_p.V280A|SYNRG_uc002hob.2_Missense_Mutation_p.V358A|SYNRG_uc002hof.2_Missense_Mutation_p.V70A|SYNRG_uc010cvd.1_Missense_Mutation_p.V158A|SYNRG_uc002hog.1_Missense_Mutation_p.V492A|SYNRG_uc010wdh.1_3'UTR	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	358	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35986896	35986896	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35986896C>T	uc002hoi.1	-	7	908	c.870G>A	c.(868-870)GTG>GTA	p.V290V	DDX52_uc002hoh.1_Silent_p.V182V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	290	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
DDX52	11056	broad.mit.edu	37	17	36003356	36003356	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36003356A>G	uc002hoi.1	-						DDX52_uc002hoh.1_Intron|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941			ATP-dependent RNA helicase ROK1 isoform a							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---
TBC1D3	729873	broad.mit.edu	37	17	36288306	36288306	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36288306G>A	uc002hoo.2	+						TBC1D3_uc002hop.2_Intron|TBC1D3_uc010wdj.1_Intron|TBC1D3_uc010cvf.1_Intron|TBC1D3_uc002hoq.2_Intron|TBC1D3_uc010wdk.1_Intron|uc002hpl.2_5'Flank|uc002hor.2_5'Flank	NM_032258	NP_115634			TBC1 domain family, member 3F							intracellular	Rab GTPase activator activity				0	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36865786	36865786	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36865786C>T	uc002hqi.3	+	6	523	c.510C>T	c.(508-510)AAC>AAT	p.N170N	MLLT6_uc010wdr.1_Silent_p.N170N|MLLT6_uc010cvm.1_Silent_p.N170N	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	170	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36895090	36895090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)																	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243861	37243861	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243861C>T	uc002hrg.2	-	8	1118	c.906G>A	c.(904-906)CCG>CCA	p.P302P	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.P10P|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	302	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
RPL19	6143	broad.mit.edu	37	17	37359273	37359273	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37359273G>T	uc002hrq.1	+	4	329	c.267G>T	c.(265-267)ATG>ATT	p.M89I	RPL19_uc002hrr.1_Missense_Mutation_p.M87I	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0																		---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37420566	37420566	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37420566C>T	uc010wed.1	-	14	1286	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	FBXL20_uc002hrt.2_Silent_p.Q355Q|FBXL20_uc010cvu.2_Silent_p.Q323Q	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	355	LRR 11.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37455285	37455285	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37455285A>T	uc010wed.1	-	5	508	c.287T>A	c.(286-288)TTA>TAA	p.L96*	FBXL20_uc002hrt.2_Nonsense_Mutation_p.L96*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.L96*	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	96	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565253	37565253	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37565253A>G	uc002hrv.3	-	17	3433	c.3221T>C	c.(3220-3222)GTG>GCG	p.V1074A	MED1_uc010wee.1_Missense_Mutation_p.V902A|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1074					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566692	37566692	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37566692G>A	uc002hrv.3	-	17	1994	c.1782C>T	c.(1780-1782)GAC>GAT	p.D594D	MED1_uc010wee.1_Silent_p.D422D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	594	Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38142913A>G	uc002htn.1	+	3	661	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)																	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38643669	38643669	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38643669A>T	uc010cxb.2	-	4	1071	c.907T>A	c.(907-909)TCT>ACT	p.S303T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	303	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859802	38859802	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38859802G>A	uc002hvd.2	-	1	201	c.144C>T	c.(142-144)AGC>AGT	p.S48S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	48	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38907439	38907439	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38907439G>A	uc002hve.2	-	4	870	c.809C>T	c.(808-810)GCG>GTG	p.A270V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)																---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38953225	38953225	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39036904	39036904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39036904T>C	uc002hvl.2	-	3	634	c.592A>G	c.(592-594)AAT>GAT	p.N198D		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	198	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39086189	39086189	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39086189T>C	uc002hvm.1	-						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Intron|KRT23_uc002hvn.1_Intron	NM_015515	NP_056330			keratin 23							intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39114896	39114896	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39114896T>A	uc002hvo.1	-	7	1469	c.1433A>T	c.(1432-1434)GAG>GTG	p.E478V	KRT39_uc010wfm.1_Missense_Mutation_p.E211V	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	478	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39122754	39122754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39122754G>A	uc002hvo.1	-	1	391	c.355C>T	c.(355-357)CGA>TGA	p.R119*	KRT39_uc010wfm.1_Translation_Start_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	119	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39137109	39137109	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39137109G>A	uc010cxh.1	-	7	1064	c.903C>T	c.(901-903)TGC>TGT	p.C301C	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	301	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39503440	39503440	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39503440C>T	uc002hwk.1	-	4	660	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	208	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
KRT34	3885	broad.mit.edu	37	17	39535677	39535677	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39535677G>A	uc002hwm.2	-	5	942	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	310	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)																---	---	---	---
KRT32	3882	broad.mit.edu	37	17	39623459	39623459	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39623459A>G	uc002hwr.2	-	1	180	c.119T>C	c.(118-120)GTC>GCC	p.V40A		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	40	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)																---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39740076	39740076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39740076C>T	uc002hxf.1	-	4	924	c.863G>A	c.(862-864)CGT>CAT	p.R288H	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288H	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39921283	39921283	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39921283C>T	uc002hxq.2	-	6	1223	c.946G>A	c.(946-948)GTG>ATG	p.V316M	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.V316M|JUP_uc002hxs.2_Missense_Mutation_p.V316M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	316					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39974715	39974715	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39974715G>A	uc002hxv.2	+	4	988	c.663G>A	c.(661-663)ATG>ATA	p.M221I	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	221	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39977960	39977960	+	Missense_Mutation	SNP	G	A	A	rs144314381	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39977960G>A	uc002hxv.2	+	9	1779	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R249Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	485	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	39998572	39998572	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39998572T>C	uc010cxr.2	+						KLHL10_uc010wfv.1_Intron|KLHL10_uc010wfw.1_Intron	NM_152467	NP_689680			kelch-like 10							cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
KLHL10	317719	broad.mit.edu	37	17	40001942	40001942	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40001942G>A	uc010cxr.2	+	3	1391	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	KLHL10_uc010wfv.1_Missense_Mutation_p.A411T|KLHL10_uc010wfw.1_Missense_Mutation_p.A329T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	417	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)																---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40141535	40141535	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40141535A>G	uc002hyo.2	-	7	877	c.640T>C	c.(640-642)TAT>CAT	p.Y214H	DNAJC7_uc010cxu.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxv.2_Missense_Mutation_p.Y158H|DNAJC7_uc010wgb.1_Missense_Mutation_p.Y158H|DNAJC7_uc010wgc.1_Missense_Mutation_p.Y72H|DNAJC7_uc002hyp.2_Missense_Mutation_p.Y158H|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	214	TPR 6.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)																---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40330388	40330388	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40330388C>A	uc002hzb.2	-	3	751	c.418G>T	c.(418-420)GGA>TGA	p.G140*		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	140	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)														---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40344600	40344600	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40344600C>A	uc002hzd.2	-	4	1032	c.548G>T	c.(547-549)AGG>ATG	p.R183M	GHDC_uc002hzg.1_Missense_Mutation_p.R183M|GHDC_uc010wgg.1_Missense_Mutation_p.R144M|GHDC_uc002hze.3_Missense_Mutation_p.R183M|GHDC_uc002hzf.3_Missense_Mutation_p.R183M|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	183						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)														---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40458336	40458336	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40458336C>T	uc002hzj.1	+	14	2193	c.1551C>T	c.(1549-1551)GCC>GCT	p.A517A	STAT5A_uc010cya.1_Silent_p.A517A|STAT5A_uc010cyb.1_Silent_p.A486A|STAT5A_uc010cyc.1_Silent_p.A487A|STAT5A_uc010cyd.1_Silent_p.A5A|STAT5A_uc010cye.1_Silent_p.A5A	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	517					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40839038	40839038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40839038C>T	uc002iay.2	+	7	1234	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	340	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840476	40840476	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840476C>T	uc002iay.2	+						CNTNAP1_uc010wgs.1_Intron	NM_003632	NP_003623			contactin associated protein 1 precursor						axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40840482	40840482	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40840482T>C	uc002iay.2	+	9	1525	c.1309T>C	c.(1309-1311)TAC>CAC	p.Y437H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	437	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40937321	40937321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40937321C>T	uc002ibj.2	+	6	1318	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C	WNK4_uc010wgx.1_Missense_Mutation_p.R97C|WNK4_uc002ibk.1_Missense_Mutation_p.R205C|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	433					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---
BECN1	8678	broad.mit.edu	37	17	40970232	40970232	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40970232C>T	uc002ibo.3	-						BECN1_uc010whb.1_Intron|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Intron	NM_003766	NP_003757			beclin 1						anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)														---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40990148	40990148	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40990148A>G	uc002ibr.2	+	6	557	c.331A>G	c.(331-333)AGC>GGC	p.S111G	PSME3_uc002ibp.2_Missense_Mutation_p.S50G|PSME3_uc002ibq.2_Missense_Mutation_p.S111G|PSME3_uc002ibs.2_Missense_Mutation_p.S122G|PSME3_uc010whd.1_Intron	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004027	41004027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41004027C>T	uc002ibv.2	+	1	827	c.667C>T	c.(667-669)CGG>TGG	p.R223W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	223	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)													---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41108275	41108275	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41108275G>A	uc002icc.2	-	6	612	c.609C>T	c.(607-609)GGC>GGT	p.G203G	AARSD1_uc002icd.2_Silent_p.G316G|AARSD1_uc002ice.2_Silent_p.G286G|AARSD1_uc002icf.2_Silent_p.G377G|AARSD1_uc010whg.1_Silent_p.G377G|AARSD1_uc010cyu.1_Silent_p.G203G	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	203					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41131289	41131289	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41131289C>T	uc002icf.2	-						AARSD1_uc002icd.2_Intron|AARSD1_uc002ice.2_Intron|AARSD1_uc010whg.1_Intron|AARSD1_uc002icg.2_Intron|AARSD1_uc002ich.2_Intron|AARSD1_uc010whh.1_Intron|RUNDC1_uc002ici.1_5'Flank|RUNDC1_uc010whi.1_5'Flank	NM_025267	NP_079543			alanyl-tRNA synthetase domain containing 1						alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41168068	41168068	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41168068G>T	uc002icm.1	-	6					VAT1_uc010cyw.1_3'UTR|VAT1_uc010whk.1_3'UTR	NM_006373	NP_006364			vesicle amine transport protein 1							cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41170164	41170164	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41170164C>T	uc002icm.1	-	3	775	c.655G>A	c.(655-657)GGA>AGA	p.G219R	VAT1_uc010cyw.1_Missense_Mutation_p.G85R|VAT1_uc010whk.1_Missense_Mutation_p.G151R	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	219						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246804	41246804	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41246804G>T	uc002icq.2	-	10	976	c.744C>A	c.(742-744)ACC>ACA	p.T248T	BRCA1_uc010whp.1_Silent_p.T201T|BRCA1_uc010whl.1_Silent_p.T248T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T177T|BRCA1_uc002icu.2_Silent_p.T248T|BRCA1_uc010cyx.2_Silent_p.T201T|BRCA1_uc002ict.2_Silent_p.T248T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T80T|BRCA1_uc002idc.1_Silent_p.T247T|BRCA1_uc010whr.1_Silent_p.T201T|BRCA1_uc002idd.2_Silent_p.T248T|BRCA1_uc002ide.1_Silent_p.T79T|BRCA1_uc010cyy.1_Silent_p.T248T|BRCA1_uc010whs.1_Silent_p.T248T|BRCA1_uc010cyz.2_Silent_p.T201T|BRCA1_uc010cza.2_Silent_p.T222T|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	248					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---
TMEM106A	113277	broad.mit.edu	37	17	41368704	41368704	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41368704T>A	uc002idn.1	+						TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Intron|TMEM106A_uc010whz.1_Intron	NM_145041	NP_659478			transmembrane protein 106A							integral to membrane					0		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)														---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610241	41610241	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41610241G>T	uc002idw.2	-	8	740	c.612C>A	c.(610-612)CCC>CCA	p.P204P	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.P150P|ETV4_uc010czh.2_Silent_p.P203P|ETV4_uc010wii.1_Silent_p.P165P|ETV4_uc002idx.2_Silent_p.P204P|ETV4_uc010wij.1_Silent_p.P165P	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	204	Gln-rich.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)				T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41891392	41891392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41891392G>A	uc002iei.3	-	16	1408	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	MPP3_uc002ieh.2_Silent_p.G439G|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41903165	41903165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41903165C>T	uc002iei.3	-	9	734	c.568G>A	c.(568-570)GCA>ACA	p.A190T	MPP3_uc002ieh.2_Missense_Mutation_p.A215T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A190T|MPP3_uc010wik.1_Missense_Mutation_p.A215T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	190	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---
PPY	5539	broad.mit.edu	37	17	42018862	42018862	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42018862C>T	uc002iep.2	-	2	206	c.161G>A	c.(160-162)CGT>CAT	p.R54H		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	54					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
NAGS	162417	broad.mit.edu	37	17	42082072	42082072	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42082072C>A	uc002ies.2	+	1	41	c.41C>A	c.(40-42)GCT>GAT	p.A14D	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.A14D|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	14					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)													---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42089614	42089614	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42089614T>A	uc002ieu.2	-						TMEM101_uc010wis.1_Intron	NM_032376	NP_115752			transmembrane protein 101						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42162039	42162039	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42162039A>T	uc002ifd.1	-	16	2400	c.2189T>A	c.(2188-2190)ATC>AAC	p.I730N	HDAC5_uc002ife.1_Missense_Mutation_p.I730N|HDAC5_uc002iff.1_Missense_Mutation_p.I731N|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.I40N|HDAC5_uc002ifh.2_Missense_Mutation_p.I730N	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	730	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)												OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42225348	42225348	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42225348G>A	uc002ifi.1	+	3	362	c.177G>A	c.(175-177)AGG>AGA	p.R59R	C17orf53_uc010czq.1_Silent_p.R59R|C17orf53_uc002ifj.1_Silent_p.R59R|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	59											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42230037	42230037	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42230037G>T	uc002ifi.1	+	5	1526	c.1341G>T	c.(1339-1341)GAG>GAT	p.E447D	C17orf53_uc010czq.1_Missense_Mutation_p.E447D|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	447											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42286718	42286718	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42286718A>G	uc002igb.2	-	16	1972	c.1905_splice	c.e16+1	p.K635_splice	UBTF_uc002igc.2_Splice_Site_p.K598_splice|UBTF_uc010czs.2_Splice_Site_p.K635_splice|UBTF_uc002igd.2_Splice_Site_p.K598_splice|UBTF_uc010czt.2_Splice_Site_p.K635_splice	NM_014233	NP_055048			upstream binding transcription factor, RNA						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42463260	42463260	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42463260T>G	uc002igt.1	-	3	372	c.340A>C	c.(340-342)ACT>CCT	p.T114P		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	114	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)													---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478681	42478681	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42478681G>A	uc002igw.1	-	8	828	c.764C>T	c.(763-765)ACA>ATA	p.T255I	GPATCH8_uc002igv.1_Missense_Mutation_p.T177I|GPATCH8_uc010wiz.1_Missense_Mutation_p.T177I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	255						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42928638	42928638	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42928638G>A	uc002ihn.2	-	28					EFTUD2_uc010wje.1_3'UTR|EFTUD2_uc010wjf.1_3'UTR	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42937909	42937909	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42937909T>C	uc002ihn.2	-	17	1871	c.1610A>G	c.(1609-1611)TAC>TGC	p.Y537C	EFTUD2_uc010wje.1_Missense_Mutation_p.Y502C|EFTUD2_uc010wjf.1_Missense_Mutation_p.Y527C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	537						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
C1QL1	10882	broad.mit.edu	37	17	43044935	43044935	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43044935G>A	uc002ihv.2	-	1	710	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)																---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43190323	43190323	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43190323G>A	uc002iib.2	-	15	2303	c.2189C>T	c.(2188-2190)GCA>GTA	p.A730V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	730	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
C17orf46	124783	broad.mit.edu	37	17	43333338	43333338	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43333338C>T	uc002iis.1	-	4	307	c.211G>A	c.(211-213)GCT>ACT	p.A71T	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.A50T	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	71										large_intestine(1)|ovary(1)	2																		---	---	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473343	43473343	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43473343G>A	uc002iix.2	-						ARHGAP27_uc010dak.2_Intron	NM_199282	NP_954976			Rho GTPase activating protein 27 isoform a						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)																	---	---	---	---
IMP5	162540	broad.mit.edu	37	17	43923692	43923692	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43923692G>A	uc010wka.1	+	1	1420	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	474	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44061147	44061147	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44061147C>T	uc002ijr.3	+	6	1297	c.977C>T	c.(976-978)GCA>GTA	p.A326V	MAPT_uc010dau.2_Missense_Mutation_p.A326V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	326					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44116579	44116579	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44116579G>A	uc002ikb.2	-	8	2291	c.2206C>T	c.(2206-2208)CTG>TTG	p.L736L	KIAA1267_uc002ikc.2_Silent_p.L736L|KIAA1267_uc002ikd.2_Silent_p.L736L|KIAA1267_uc010dav.2_Silent_p.L736L|KIAA1267_uc010wkb.1_Silent_p.L67L|KIAA1267_uc010wkc.1_Intron	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	736						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44248979	44248979	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44248979A>G	uc002ikb.2	-	1	616	c.531T>C	c.(529-531)AAT>AAC	p.N177N	KIAA1267_uc002ikc.2_Silent_p.N177N|KIAA1267_uc002ikd.2_Silent_p.N177N|KIAA1267_uc010dav.2_Silent_p.N177N	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	177						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44626418	44626418	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44626418T>A	uc002ikn.1	+	9	3916	c.3913T>A	c.(3913-3915)TAC>AAC	p.Y1305N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.Y266N|LRRC37A2_uc010dax.1_Missense_Mutation_p.Y235N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1305	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)														---	---	---	---
NSF	4905	broad.mit.edu	37	17	44806237	44806237	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44806237C>T	uc002iku.2	+	17	1949	c.1845C>T	c.(1843-1845)GGC>GGT	p.G615G	NSF_uc010wke.1_Silent_p.G521G|NSF_uc010wkf.1_Silent_p.G521G|NSF_uc010wkg.1_Silent_p.G610G	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	615					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)														---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45904545	45904545	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45904545C>T	uc002ilz.2	-	3	274	c.248G>A	c.(247-249)CGC>CAC	p.R83H	MRPL10_uc010wky.1_Missense_Mutation_p.R44H|MRPL10_uc002ily.2_Missense_Mutation_p.R93H	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	83					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1																		---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45909496	45909496	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45909496G>A	uc002ima.2	+	2	297	c.41G>A	c.(40-42)GGC>GAC	p.G14D	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	14										ovary(1)	1																		---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46057957	46057957	+	Splice_Site	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46057957A>T	uc002imr.2	+	12	1162	c.1078_splice	c.e12-2	p.L360_splice	CDK5RAP3_uc010wlc.1_Splice_Site_p.L380_splice|CDK5RAP3_uc002imq.1_Splice_Site_p.L135_splice|CDK5RAP3_uc002imu.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002ims.2_Splice_Site_p.L273_splice|CDK5RAP3_uc002imv.2_Splice_Site_p.L204_splice|CDK5RAP3_uc002imw.2_Splice_Site_p.L202_splice|CDK5RAP3_uc002imx.2_Splice_Site_p.L135_splice	NM_176096	NP_788276			CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0																		---	---	---	---
CBX1	10951	broad.mit.edu	37	17	46153532	46153532	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46153532T>C	uc002ind.3	-	3	630	c.149A>G	c.(148-150)AAC>AGC	p.N50S	CBX1_uc002ine.3_Missense_Mutation_p.N50S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	50	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0																		---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608232	46608232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46608232T>C	uc002ink.1	-	1	41	c.35A>G	c.(34-36)TAC>TGC	p.Y12C		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	12						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
HOXB5	3215	broad.mit.edu	37	17	46669628	46669628	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46669628C>A	uc002inr.2	-	2	812	c.753G>T	c.(751-753)AAG>AAT	p.K251N	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	251	Homeobox.					nucleus	sequence-specific DNA binding				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691747	46691747	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691747T>C	uc002inw.2	-	1	555	c.320A>G	c.(319-321)TAC>TGC	p.Y107C		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691765	46691765	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46691765T>C	uc002inw.2	-	1	537	c.302A>G	c.(301-303)GAT>GGT	p.D101G		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46804235	46804235	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46804235G>A	uc002ioa.2	-	2	928	c.772C>T	c.(772-774)CGC>TGC	p.R258C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	258	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46847394	46847394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46847394C>T	uc010wlo.1	-	15	2141	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	TTLL6_uc002iob.2_Silent_p.P395P|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.P455P|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	654						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0																		---	---	---	---
GIP	2695	broad.mit.edu	37	17	47039154	47039154	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47039154C>T	uc002iol.1	-	4	383	c.285G>A	c.(283-285)GAG>GAA	p.E95E		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	95					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1																		---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121413	47121413	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47121413A>G	uc002iom.2	+	11	1619	c.1285A>G	c.(1285-1287)AAA>GAA	p.K429E	IGF2BP1_uc010dbj.2_Missense_Mutation_p.K290E	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	429	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---
GNGT2	2793	broad.mit.edu	37	17	47284707	47284707	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47284707T>C	uc002ioo.1	-	3	385	c.78A>G	c.(76-78)AGA>AGG	p.R26R	ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	26					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)															---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47583768	47583768	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47583768G>A	uc002ioz.3	+	3	441	c.316G>A	c.(316-318)GTG>ATG	p.V106M		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	106	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---
DLX3	1747	broad.mit.edu	37	17	48072105	48072105	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48072105A>G	uc002ipy.2	-	1	484	c.258T>C	c.(256-258)TAT>TAC	p.Y86Y		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48154746	48154746	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48263363	48263363	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48263363C>A	uc002iqm.2	-	50	4150	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48267694	48267694	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48267694G>A	uc002iqm.2	-	35	2571	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	815	Triple-helical region.		G -> V (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458187	48458187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48458187C>T	uc002iqs.1	+	9	1673	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	EME1_uc010dbp.1_Missense_Mutation_p.R547C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	534					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)										Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48539648	48539648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48539648C>T	uc002iqu.2	+	5	715	c.611C>T	c.(610-612)GCC>GTC	p.A204V	ACSF2_uc010wml.1_Missense_Mutation_p.A161V|ACSF2_uc010wmm.1_Missense_Mutation_p.A229V|ACSF2_uc010wmn.1_Missense_Mutation_p.A191V|ACSF2_uc010wmo.1_Missense_Mutation_p.A44V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	204					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48542719	48542719	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48542719C>A	uc010dbr.2	-	3	1073	c.1020G>T	c.(1018-1020)ACG>ACT	p.T340T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.T340T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	340	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48545855	48545855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48545855G>A	uc010dbr.2	-	1	373	c.320C>T	c.(319-321)TCC>TTC	p.S107F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.S107F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	107	LRR 2.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48603399	48603399	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48603399G>A	uc010wmr.1	+	14	2231	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	653					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)															---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48626681	48626681	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48626681G>T	uc002irf.2	+	6	788	c.647G>T	c.(646-648)AGC>ATC	p.S216I	SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.S172I|SPATA20_uc002ird.2_Missense_Mutation_p.S232I|SPATA20_uc010wmv.1_Missense_Mutation_p.S242I|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	216					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)															---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678434	48678434	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678434A>G	uc002irk.1	+	19	4186	c.3814A>G	c.(3814-3816)ATC>GTC	p.I1272V	CACNA1G_uc002iri.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irj.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irl.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irm.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irn.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iro.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irp.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irq.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irr.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irs.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irt.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irv.1_Missense_Mutation_p.I1272V|CACNA1G_uc002irw.1_Missense_Mutation_p.I1249V|CACNA1G_uc002iru.1_Missense_Mutation_p.I1249V|CACNA1G_uc002irx.1_Missense_Mutation_p.I1185V|CACNA1G_uc002iry.1_Missense_Mutation_p.I1185V|CACNA1G_uc002irz.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isa.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isb.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isc.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isd.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ise.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isf.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isg.1_Missense_Mutation_p.I1185V|CACNA1G_uc002ish.1_Missense_Mutation_p.I1185V|CACNA1G_uc002isi.1_Missense_Mutation_p.I1162V|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1272	Cytoplasmic (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48678461	48678461	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48678461G>A	uc002irk.1	+	19	4213	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	CACNA1G_uc002iri.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irj.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irl.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irm.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irn.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iro.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irp.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irq.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irr.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irs.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irt.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irv.1_Missense_Mutation_p.V1281M|CACNA1G_uc002irw.1_Missense_Mutation_p.V1258M|CACNA1G_uc002iru.1_Missense_Mutation_p.V1258M|CACNA1G_uc002irx.1_Missense_Mutation_p.V1194M|CACNA1G_uc002iry.1_Missense_Mutation_p.V1194M|CACNA1G_uc002irz.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isa.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isb.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isc.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isd.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ise.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isf.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isg.1_Missense_Mutation_p.V1194M|CACNA1G_uc002ish.1_Missense_Mutation_p.V1194M|CACNA1G_uc002isi.1_Missense_Mutation_p.V1171M|CACNA1G_uc002isj.2_Missense_Mutation_p.V5M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1281	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48680184	48680184	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48680184C>T	uc002irk.1	+	20	4291	c.3919C>T	c.(3919-3921)CGC>TGC	p.R1307C	CACNA1G_uc002iri.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irj.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irl.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irm.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irn.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iro.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irp.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irq.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irr.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irs.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irt.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irv.1_Missense_Mutation_p.R1307C|CACNA1G_uc002irw.1_Missense_Mutation_p.R1284C|CACNA1G_uc002iru.1_Missense_Mutation_p.R1284C|CACNA1G_uc002irx.1_Missense_Mutation_p.R1220C|CACNA1G_uc002iry.1_Missense_Mutation_p.R1220C|CACNA1G_uc002irz.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isa.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isb.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isc.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isd.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ise.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isf.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isg.1_Missense_Mutation_p.R1220C|CACNA1G_uc002ish.1_Missense_Mutation_p.R1220C|CACNA1G_uc002isi.1_Missense_Mutation_p.R1197C|CACNA1G_uc002isj.2_Missense_Mutation_p.R31C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1307	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940379	48940379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48940379A>G	uc002isw.2	-	1	1035	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	TOB1_uc010wmy.1_Missense_Mutation_p.Y334H|TOB1_uc010wmz.1_Missense_Mutation_p.Y334H	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	334					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)															---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49048098	49048098	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49048098C>T	uc002itc.2	-	29	4029	c.3820G>A	c.(3820-3822)GGA>AGA	p.G1274R	SPAG9_uc002itb.2_Missense_Mutation_p.G1260R|SPAG9_uc002itd.2_Missense_Mutation_p.G1264R|SPAG9_uc002ita.2_Missense_Mutation_p.G1130R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1274					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)															---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52978291	52978291	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52978291A>G	uc002iud.2	+						TOM1L1_uc002iub.2_Intron|TOM1L1_uc002iuc.2_Intron|TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53108540	53108540	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53108540T>A	uc002iuf.1	+	9	885	c.678T>A	c.(676-678)TAT>TAA	p.Y226*	STXBP4_uc010dcc.1_Nonsense_Mutation_p.Y151*|STXBP4_uc010dcd.1_Nonsense_Mutation_p.Y226*	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	226						cytoplasm	calcium ion binding			ovary(1)	1																		---	---	---	---
HLF	3131	broad.mit.edu	37	17	53342842	53342842	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53342842C>T	uc002iug.1	+	1					HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117			hepatic leukemia factor						multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
HLF	3131	broad.mit.edu	37	17	53392616	53392616	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53392616A>G	uc002iug.1	+	3	1005	c.480A>G	c.(478-480)ACA>ACG	p.T160T	HLF_uc010dce.1_Silent_p.T75T|HLF_uc002iuh.2_Silent_p.T75T|HLF_uc010wni.1_Silent_p.T107T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	160	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---
MMD	23531	broad.mit.edu	37	17	53478860	53478860	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53478860T>A	uc002iui.2	-	6	771	c.486A>T	c.(484-486)GGA>GGT	p.G162G		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	162	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0																		---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54450156	54450156	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54450156A>G	uc002iun.1	+	6	795	c.760A>G	c.(760-762)AGG>GGG	p.R254G		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	254										large_intestine(1)|ovary(1)	2																		---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54981649	54981649	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54981649G>T	uc002iut.2	-	3	954	c.894C>A	c.(892-894)AGC>AGA	p.S298R	TRIM25_uc010dcj.2_Missense_Mutation_p.S90R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	298	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)																	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56276948	56276948	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56276948G>A	uc002ivq.2	+	9	1416	c.1330G>A	c.(1330-1332)GCC>ACC	p.A444T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	444					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2																		---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56284448	56284448	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56284448T>C	uc002ivr.1	-	15	1480	c.1405A>G	c.(1405-1407)AAG>GAG	p.K469E	MKS1_uc010wnq.1_Missense_Mutation_p.K266E|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	469					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1																		---	---	---	---
LPO	4025	broad.mit.edu	37	17	56345358	56345358	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56345358G>A	uc002ivt.2	+	13					LPO_uc010wns.1_3'UTR|LPO_uc010dcp.2_3'UTR|LPO_uc010dcq.2_3'UTR|LPO_uc010dcr.2_3'UTR	NM_006151	NP_006142			lactoperoxidase isoform 1 preproprotein						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2																		---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56439908	56439908	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56439908C>T	uc002iwf.2	-	5	2640	c.684G>A	c.(682-684)AGG>AGA	p.R228R	RNF43_uc010wnv.1_Silent_p.R187R|RNF43_uc002iwh.3_Silent_p.R228R|RNF43_uc002iwg.3_Silent_p.R228R|RNF43_uc010dcw.2_Silent_p.R101R	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	228	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56540625	56540625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56540625G>A	uc002iwi.1	-	4	1184	c.1060C>T	c.(1060-1062)CCT>TCT	p.P354S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	354						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565215	56565215	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565215C>T	uc002iwi.1	-	1	545	c.421G>A	c.(421-423)GGC>AGC	p.G141S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	141	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56565535	56565535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56565535C>T	uc002iwi.1	-	1	225	c.101G>A	c.(100-102)GGC>GAC	p.G34D		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	34	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56582887	56582887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56582887C>T	uc002iwj.2	-	11	1159	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	350	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56598409	56598409	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56598409T>C	uc002iwm.1	-	10	1355	c.1227A>G	c.(1225-1227)GCA>GCG	p.A409A	SEPT4_uc002iwk.1_Silent_p.A262A|SEPT4_uc010wnw.1_Silent_p.A262A|SEPT4_uc002iwl.1_Silent_p.A262A|SEPT4_uc002iwn.1_Silent_p.A310A|SEPT4_uc002iwo.1_Silent_p.A390A|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.A424A|SEPT4_uc010wny.1_Silent_p.A401A|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	409					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)															OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56604289G>A	uc002iwm.1	-	2	239	c.111C>T	c.(109-111)TTC>TTT	p.F37F	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Silent_p.F18F|SEPT4_uc002iwp.1_Silent_p.F18F|SEPT4_uc010wnx.1_Silent_p.F52F|SEPT4_uc010wny.1_Silent_p.F29F|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56679164	56679164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56679164T>C	uc010dcz.1	-						TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56692669	56692669	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56692669G>T	uc010dcz.1	-	8	941	c.823C>A	c.(823-825)CTG>ATG	p.L275M	TEX14_uc002iwr.1_Missense_Mutation_p.L269M|TEX14_uc002iws.1_Missense_Mutation_p.L269M|TEX14_uc010dda.1_Missense_Mutation_p.L49M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	275	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57125059	57125059	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57125059A>G	uc002iwy.3	-	16	2096	c.1652T>C	c.(1651-1653)ATT>ACT	p.I551T	TRIM37_uc002iwz.3_Missense_Mutation_p.I551T|TRIM37_uc002ixa.3_Missense_Mutation_p.I429T|TRIM37_uc010woc.1_Missense_Mutation_p.I517T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	551						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
SKA2	348235	broad.mit.edu	37	17	57196750	57196750	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57196750C>G	uc002ixd.2	-	3	503	c.227G>C	c.(226-228)AGC>ACC	p.S76T	SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Intron|SKA2_uc002ixe.2_Intron	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	76					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
C17orf71	55181	broad.mit.edu	37	17	57288871	57288871	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57288871G>T	uc002ixi.2	+	1	1501	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	487					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)																	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57762469	57762469	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57762469C>A	uc002ixq.1	+	29	4930	c.4487C>A	c.(4486-4488)GCT>GAT	p.A1496D	CLTC_uc002ixp.2_Missense_Mutation_p.A1496D|CLTC_uc002ixr.1_Missense_Mutation_p.A1500D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1496	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57955509	57955509	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57955509T>A	uc002ixw.1	-	5	1002	c.724A>T	c.(724-726)ACT>TCT	p.T242S	TUBD1_uc010ddf.1_Missense_Mutation_p.T242S|TUBD1_uc010ddg.1_Missense_Mutation_p.T207S|TUBD1_uc010ddh.1_Missense_Mutation_p.T123S|TUBD1_uc010wok.1_Missense_Mutation_p.T242S|TUBD1_uc002ixx.1_Missense_Mutation_p.T242S|TUBD1_uc010wol.1_Missense_Mutation_p.T26S|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	242					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)															---	---	---	---
CA4	762	broad.mit.edu	37	17	58233921	58233921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58233921T>C	uc002iym.3	+	3	207	c.113T>C	c.(112-114)GTG>GCG	p.V38A	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	38					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)													---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58952026	58952026	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58952026C>T	uc002iyv.3	+	9	697	c.588C>T	c.(586-588)ATC>ATT	p.I196I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.I196I|BCAS3_uc002iyw.3_Silent_p.I192I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	196						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58967097	58967097	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58967097C>A	uc002iyv.3	+	10	812	c.703C>A	c.(703-705)CTT>ATT	p.L235I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.L235I|BCAS3_uc002iyw.3_Missense_Mutation_p.L231I|BCAS3_uc002iyx.1_Missense_Mutation_p.L50I|BCAS3_uc002iyy.3_Missense_Mutation_p.L6I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	235						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59480452	59480452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59480452C>T	uc010wox.1	+	3	975	c.694C>T	c.(694-696)CCG>TCG	p.P232S	TBX2_uc002ize.2_Missense_Mutation_p.P222S|TBX2_uc002izg.2_Missense_Mutation_p.P78S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	232	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0																		---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59560379	59560379	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59560379C>T	uc002izi.2	+	8	1185	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	TBX4_uc010ddo.2_Silent_p.P381P|TBX4_uc010woy.1_Silent_p.P381P	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	380					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
TLK2	11011	broad.mit.edu	37	17	60678155	60678155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60678155C>T	uc010ddp.2	+	19	2028	c.1760C>T	c.(1759-1761)CCC>CTC	p.P587L	TLK2_uc002izx.3_Missense_Mutation_p.P413L|TLK2_uc002izz.3_Missense_Mutation_p.P565L|TLK2_uc002jaa.3_Missense_Mutation_p.P533L|TLK2_uc010wpd.1_Missense_Mutation_p.P533L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	587	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2																		---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60757577	60757577	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60757577T>A	uc002jad.2	+	15	2747	c.2345T>A	c.(2344-2346)ATC>AAC	p.I782N	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	782	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60802447	60802447	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60802447G>A	uc010ddr.2	-	7	2194	c.1956C>T	c.(1954-1956)TCC>TCT	p.S652S	MARCH10_uc002jag.3_Silent_p.S652S|MARCH10_uc010dds.2_Silent_p.S690S|MARCH10_uc002jah.2_Silent_p.S651S|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	652	RING-CH-type.						ligase activity|zinc ion binding				0																		---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61473221	61473221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61473221G>A	uc002jal.3	+	16	2970	c.2947G>A	c.(2947-2949)GGA>AGA	p.G983R	TANC2_uc010wpe.1_Missense_Mutation_p.G893R|TANC2_uc002jan.1_Missense_Mutation_p.G134R|TANC2_uc002jao.3_Missense_Mutation_p.G84R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	983							binding			ovary(2)	2																		---	---	---	---
ACE	1636	broad.mit.edu	37	17	61561282	61561282	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61561282A>G	uc002jau.1	+	11	1681	c.1659A>G	c.(1657-1659)CCA>CCG	p.P553P	ACE_uc010ddu.1_Silent_p.P370P|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	553	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)													---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611428	61611428	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61611428A>G	uc002jay.2	+	5	937	c.857A>G	c.(856-858)GAC>GGC	p.D286G	KCNH6_uc002jax.1_Missense_Mutation_p.D286G|KCNH6_uc010wpl.1_Missense_Mutation_p.D163G|KCNH6_uc010wpm.1_Missense_Mutation_p.D286G|KCNH6_uc002jaz.1_Missense_Mutation_p.D286G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	286	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)													---	---	---	---
DCAF7	10238	broad.mit.edu	37	17	61628105	61628105	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61628105A>T	uc002jbc.2	+	1	284	c.67A>T	c.(67-69)AAC>TAC	p.N23Y	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.N23Y	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	23					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1																		---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61902762	61902762	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61902762A>G	uc002jbz.2	-	6	513	c.435T>C	c.(433-435)TGT>TGC	p.C145C	FTSJ3_uc002jca.2_Silent_p.C145C|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	145					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61909265	61909265	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61909265C>T	uc002jcb.2	+						PSMC5_uc010ddy.2_Intron|PSMC5_uc010ddz.2_Intron|PSMC5_uc002jcc.2_Intron|PSMC5_uc002jcd.2_Intron	NM_002805	NP_002796			proteasome 26S ATPase subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61914568	61914568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61914568A>G	uc010deb.1	-	3	748	c.431T>C	c.(430-432)GTT>GCT	p.V144A	SMARCD2_uc010wpt.1_Missense_Mutation_p.V96A|SMARCD2_uc010dea.1_Missense_Mutation_p.V69A|SMARCD2_uc010dec.1_Missense_Mutation_p.V123A	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	144					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62135346T>C	uc002jdz.2	-	12	1327	c.1214A>G	c.(1213-1215)AAC>AGC	p.N405S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	405	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9																		---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62290313	62290313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62290313T>C	uc002jec.2	-	2	1438	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	TEX2_uc002jed.2_Missense_Mutation_p.Y422C|TEX2_uc002jee.2_Missense_Mutation_p.Y422C	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	422					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)														---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492909	62492909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62492909G>A	uc002jei.2	-	1	261	c.178C>T	c.(178-180)CCC>TCC	p.P60S	POLG2_uc010deg.1_Missense_Mutation_p.P60S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	60					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62496396	62496396	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62496396T>C	uc002jek.2	-	13	1737	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	DDX5_uc010deh.2_Missense_Mutation_p.Y497C|DDX5_uc002jej.2_Missense_Mutation_p.Y392C|DDX5_uc010wqa.1_Missense_Mutation_p.Y418C	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	497					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---
CCDC45	90799	broad.mit.edu	37	17	62523239	62523239	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62523239G>T	uc002jem.2	+	11	1221	c.1163G>T	c.(1162-1164)AGT>ATT	p.S388I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.S224I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	388						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)															---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62855980	62855980	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62855980A>G	uc002jey.2	-	11	4815	c.4284T>C	c.(4282-4284)GCT>GCC	p.A1428A	LRRC37A3_uc010wqg.1_Silent_p.A546A|LRRC37A3_uc002jex.1_Silent_p.A405A|LRRC37A3_uc010wqf.1_Silent_p.A466A|LRRC37A3_uc010dek.1_Silent_p.A434A	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1428	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856650	62856650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62856650C>T	uc002jey.2	-	11	4145	c.3614G>A	c.(3613-3615)AGG>AAG	p.R1205K	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R323K|LRRC37A3_uc002jex.1_Missense_Mutation_p.R182K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R243K|LRRC37A3_uc010dek.1_Missense_Mutation_p.R211K	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1205	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62893387	62893387	+	5'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62893387C>T	uc002jey.2	-	3					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372			leucine rich repeat containing 37, member A3							integral to membrane					0																		---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221501	63221501	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63221501G>A	uc002jfe.2	+	18	1899	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RGS9_uc010dem.2_Missense_Mutation_p.A594T|RGS9_uc002jfd.2_Missense_Mutation_p.A594T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A368T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	597					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63533080	63533080	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63533080G>A	uc002jfi.2	-	7	2103	c.1814C>T	c.(1813-1815)GCC>GTC	p.A605V	AXIN2_uc002jfh.2_Intron	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	605				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2														Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				---	---	---	---
CACNG1	786	broad.mit.edu	37	17	65040890	65040890	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65040890C>T	uc002jfu.2	+	1	185	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	38					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)													---	---	---	---
NOL11	25926	broad.mit.edu	37	17	65722767	65722767	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65722767A>G	uc002jgd.1	+						NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_Intron	NM_015462	NP_056277			nucleolar protein 11							nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040035	66040035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040035G>A	uc002jgk.2	+	8	1144	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	KPNA2_uc002jgl.2_Missense_Mutation_p.A338T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	338	ARM 7.|NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66416413	66416413	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66416413G>A	uc002jhc.2	+	12	2183	c.1387G>A	c.(1387-1389)GCA>ACA	p.A463T	ARSG_uc002jhb.1_Missense_Mutation_p.A299T|ARSG_uc010dex.1_RNA	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	463					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66551755	66551755	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66551755G>A	uc002jho.2	-	2	822	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FAM20A_uc010wqp.1_Silent_p.S40S|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	178						extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67041327	67041327	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67041327T>C	uc002jhu.2	-	4	598	c.455A>G	c.(454-456)CAC>CGC	p.H152R	ABCA9_uc010dez.2_Missense_Mutation_p.H152R|ABCA9_uc002jhv.2_Missense_Mutation_p.H152R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	152					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67047255	67047255	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67047255G>A	uc002jhu.2	-	2	156	c.13C>T	c.(13-15)CGC>TGC	p.R5C	ABCA9_uc010dez.2_Missense_Mutation_p.R5C|ABCA9_uc002jhv.2_Missense_Mutation_p.R5C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	5					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67250502	67250502	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67250502C>T	uc002jif.2	-	31	5416	c.4198G>A	c.(4198-4200)GCT>ACT	p.A1400T	ABCA5_uc002jib.2_Missense_Mutation_p.A366T|ABCA5_uc002jic.2_Missense_Mutation_p.A623T|ABCA5_uc002jid.2_Missense_Mutation_p.A317T|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1400T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1400	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67293435	67293435	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67293435T>G	uc002jif.2	-	9	2551	c.1333A>C	c.(1333-1335)AGA>CGA	p.R445R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.R445R|ABCA5_uc002jih.2_Silent_p.R445R|ABCA5_uc010dfe.2_Silent_p.R445R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	445					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71166456	71166456	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71166456G>A	uc002jje.2	+	2	1358	c.998G>A	c.(997-999)AGC>AAC	p.S333N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	333	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
COG1	9382	broad.mit.edu	37	17	71199167	71199167	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71199167T>C	uc002jjg.2	+	8	2138	c.2102T>C	c.(2101-2103)TTA>TCA	p.L701S	COG1_uc002jjh.2_Missense_Mutation_p.L701S|COG1_uc002jjf.1_Missense_Mutation_p.L701S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	701					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
C17orf80	55028	broad.mit.edu	37	17	71239049	71239049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71239049A>G	uc002jjm.3	+	5	1830	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	C17orf80_uc010wqu.1_Missense_Mutation_p.N510D|C17orf80_uc010dfj.2_Missense_Mutation_p.N510D|C17orf80_uc002jjk.1_Missense_Mutation_p.N546D|C17orf80_uc002jjl.3_Missense_Mutation_p.N510D	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	546	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---
RPL38	6169	broad.mit.edu	37	17	72205978	72205978	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72205978A>G	uc002jjz.2	+	5					RPL38_uc002jka.2_3'UTR	NM_000999	NP_000990			ribosomal protein L38						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72227099	72227099	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72227099G>T	uc002jkc.2	+	3	406	c.375G>T	c.(373-375)TTG>TTT	p.L125F	TTYH2_uc010wqw.1_Missense_Mutation_p.L104F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	125	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72249893	72249893	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72249893G>A	uc002jkc.2	+	13	1477	c.1446_splice	c.e13-1	p.M482_splice	TTYH2_uc010wqw.1_Splice_Site_p.M461_splice|TTYH2_uc002jkd.2_Splice_Site_p.M161_splice	NM_032646	NP_116035			tweety 2 isoform 1							chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72340925	72340925	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72340925A>G	uc002jkm.3	+	7	746	c.608A>G	c.(607-609)AAC>AGC	p.N203S	KIF19_uc002jkj.2_Missense_Mutation_p.N203S|KIF19_uc002jkk.2_Missense_Mutation_p.N161S|KIF19_uc002jkl.2_Missense_Mutation_p.N161S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	203	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72351389	72351389	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72351389G>T	uc002jkm.3	+	20	3073	c.2935G>T	c.(2935-2937)GGG>TGG	p.G979W		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	979					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368331	72368331	+	Silent	SNP	C	T	T	rs146060702		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72368331C>T	uc010wqy.1	+	4	981	c.981C>T	c.(979-981)GGC>GGT	p.G327G	GPR142_uc010wqx.1_Silent_p.G239G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	327	Helical; Name=5; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
NAT9	26151	broad.mit.edu	37	17	72768367	72768367	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72768367C>T	uc002jlq.2	-	5	458	c.384G>A	c.(382-384)ATG>ATA	p.M128I	NAT9_uc002jlr.2_Missense_Mutation_p.M127I	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	128	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0																		---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72861880	72861880	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72861880G>A	uc002jly.2	-	6	657	c.570C>T	c.(568-570)GAC>GAT	p.D190D	FDXR_uc010wri.1_Silent_p.D138D|FDXR_uc010wrj.1_Silent_p.D188D|FDXR_uc002jlw.2_Translation_Start_Site|FDXR_uc002jlx.2_Silent_p.D190D|FDXR_uc002jmc.2_Silent_p.D191D|FDXR_uc010wrk.1_Silent_p.D221D|FDXR_uc010wrl.1_Silent_p.D233D|FDXR_uc002jma.2_Silent_p.D191D|FDXR_uc010wrm.1_Silent_p.D150D|FDXR_uc002jlz.2_Silent_p.D182D|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	190					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72862566	72862566	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72862566A>G	uc002jly.2	-	4	480	c.393_splice	c.e4+1	p.L131_splice	FDXR_uc010wri.1_Splice_Site_p.L79_splice|FDXR_uc010wrj.1_Splice_Site_p.L129_splice|FDXR_uc002jlw.2_Splice_Site|FDXR_uc002jlx.2_Splice_Site_p.L131_splice|FDXR_uc002jmc.2_Splice_Site_p.L132_splice|FDXR_uc010wrk.1_Splice_Site_p.L162_splice|FDXR_uc010wrl.1_Splice_Site_p.L174_splice|FDXR_uc002jma.2_Splice_Site_p.L132_splice|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Splice_Site_p.L123_splice|FDXR_uc002jmb.2_Splice_Site	NM_024417	NP_077728			ferredoxin reductase isoform 1 precursor						cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---
OTOP3	347741	broad.mit.edu	37	17	72943337	72943337	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72943337G>A	uc010wrr.1	+	6	1387	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	OTOP3_uc010wrq.1_Missense_Mutation_p.A445T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	463	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)																	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73089824	73089824	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73089824C>T	uc002jmr.2	+	3	465	c.93C>T	c.(91-93)CCC>CCT	p.P31P	SLC16A5_uc002jms.1_Silent_p.P31P|SLC16A5_uc002jmt.2_Silent_p.P31P|SLC16A5_uc002jmu.2_Silent_p.P31P|SLC16A5_uc010wrt.1_Silent_p.P71P	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	31	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)													---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73237473	73237473	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73237473C>A	uc002jni.1	-						GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Intron|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Intron	NM_138619	NP_619525			ADP-ribosylation factor binding protein 3						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73240709	73240709	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73240709G>A	uc002jni.1	-	4	300	c.291C>T	c.(289-291)GTC>GTT	p.V97V	GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Silent_p.V25V|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Silent_p.V25V|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	97	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73664707	73664707	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73664707T>C	uc002jpe.2	+	2	270	c.216_splice	c.e2+2	p.S72_splice	RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Splice_Site_p.S72_splice|SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Splice_Site|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.S72_splice	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73700897	73700897	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73700897A>G	uc002jpe.2	+						SAP30BP_uc002jpc.1_Intron|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_Intron|SAP30BP_uc002jpf.2_Intron	NM_013260	NP_037392			transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73720778	73720778	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73720778A>G	uc002jpg.2	+	2					ITGB4_uc002jph.2_5'UTR|ITGB4_uc010dgo.2_5'UTR|ITGB4_uc002jpi.3_5'UTR|ITGB4_uc010dgp.1_5'UTR|ITGB4_uc002jpj.2_5'UTR	NM_000213	NP_000204			integrin beta 4 isoform 1 precursor						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73831532	73831532	+	Silent	SNP	G	A	A	rs143190205		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73831532G>A	uc002jpp.2	-	20	2186	c.1806C>T	c.(1804-1806)AAC>AAT	p.N602N	UNC13D_uc010wsk.1_Silent_p.N602N|UNC13D_uc002jpq.1_Silent_p.N252N	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	602	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)											Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73956385	73956385	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73956385T>C	uc002jqf.2	-						ACOX1_uc010wsq.1_Missense_Mutation_p.Q76R|ACOX1_uc002jqe.2_Missense_Mutation_p.Q114R|ACOX1_uc010wsr.1_Missense_Mutation_p.Q46R	NM_007292	NP_009223			acyl-Coenzyme A oxidase 1 isoform b						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
CDK3	1018	broad.mit.edu	37	17	73998612	73998612	+	Silent	SNP	C	T	T	rs61747000	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73998612C>T	uc010dgt.2	+	6	583	c.507C>T	c.(505-507)CGC>CGT	p.R169R	CDK3_uc002jqg.3_Silent_p.R197R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003870	74003870	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74003870G>A	uc002jqi.2	-	22	5644	c.5416C>T	c.(5416-5418)CCC>TCC	p.P1806S	EVPL_uc010wss.1_Missense_Mutation_p.P1828S|EVPL_uc010wst.1_Missense_Mutation_p.P1276S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1806	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74013872	74013872	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74013872A>T	uc002jqi.2	-	14	1886	c.1658T>A	c.(1657-1659)CTG>CAG	p.L553Q	EVPL_uc010wss.1_Missense_Mutation_p.L575Q|EVPL_uc010wst.1_Missense_Mutation_p.L23Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	553	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163130	74163130	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163130G>T	uc002jqz.2	-	5	590	c.521C>A	c.(520-522)CCC>CAC	p.P174H	RNF157_uc002jra.2_Missense_Mutation_p.P174H	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	174							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163886	74163886	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74163886A>G	uc002jqz.2	-						RNF157_uc002jra.2_Intron	NM_052916	NP_443148			ring finger protein 157								zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74307730	74307730	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74307730T>C	uc010wta.1	-	10	1497	c.1051A>G	c.(1051-1053)AAG>GAG	p.K351E	PRPSAP1_uc010wtb.1_Missense_Mutation_p.K248E	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	322					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1																		---	---	---	---
SPHK1	8877	broad.mit.edu	37	17	74383020	74383020	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74383020G>A	uc002jrf.1	+	8	1317	c.508G>A	c.(508-510)GCC>ACC	p.A170T	SPHK1_uc002jrg.1_Missense_Mutation_p.A119T|SPHK1_uc002jrh.2_Missense_Mutation_p.A184T|SPHK1_uc002jrj.2_Missense_Mutation_p.A256T|SPHK1_uc002jri.2_Missense_Mutation_p.A170T|SPHK1_uc002jrk.3_Missense_Mutation_p.A170T|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	170					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74387043	74387043	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74387043T>C	uc002jrm.3	-	18	3925	c.3860A>G	c.(3859-3861)GAG>GGG	p.E1287G	UBE2O_uc002jrl.3_Missense_Mutation_p.E891G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1287							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394418	74394418	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74394418T>C	uc002jrm.3	-	12	2008	c.1943A>G	c.(1942-1944)CAC>CGC	p.H648R	UBE2O_uc002jrn.3_Missense_Mutation_p.H648R|UBE2O_uc002jrl.3_Missense_Mutation_p.H251R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74395720	74395720	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74395720C>T	uc002jrm.3	-	9	1503	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	UBE2O_uc002jrn.3_Missense_Mutation_p.A480T|UBE2O_uc002jrl.3_Missense_Mutation_p.A83T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	480							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75209491	75209491	+	Silent	SNP	C	T	T	rs143199360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75209491C>T	uc002jto.2	+	16	2226	c.1959C>T	c.(1957-1959)GAC>GAT	p.D653D	SEC14L1_uc010dhc.2_Silent_p.D653D|SEC14L1_uc010wth.1_Silent_p.D653D|SEC14L1_uc002jtm.2_Silent_p.D653D|SEC14L1_uc010wti.1_Silent_p.D619D|SEC14L1_uc010wtj.1_Nonsense_Mutation_p.R142*|SEC14L1_uc002jtr.2_Silent_p.D47D	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	653	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75210055	75210055	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75210055G>A	uc002jto.2	+	17	2365	c.2098G>A	c.(2098-2100)GCC>ACC	p.A700T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A700T|SEC14L1_uc010wth.1_Missense_Mutation_p.A700T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A700T|SEC14L1_uc010wti.1_Missense_Mutation_p.A666T|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	700					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---
SEPT9	10801	broad.mit.edu	37	17	75478396	75478396	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75478396G>A	uc002jts.3	+	4	1018	c.892G>A	c.(892-894)GAG>AAG	p.E298K	SEPT9_uc010wtk.1_Missense_Mutation_p.E279K|SEPT9_uc002jtt.3_Missense_Mutation_p.E134K|SEPT9_uc002jtu.3_Missense_Mutation_p.E280K|SEPT9_uc002jtv.2_Missense_Mutation_p.E291K|SEPT9_uc002jtw.2_Missense_Mutation_p.E134K|SEPT9_uc002jtx.1_Missense_Mutation_p.E134K|SEPT9_uc010wtl.1_Missense_Mutation_p.E74K|SEPT9_uc002jty.3_Missense_Mutation_p.E47K|SEPT9_uc010wtm.1_Missense_Mutation_p.E47K|SEPT9_uc010wtn.1_Missense_Mutation_p.E47K|SEPT9_uc010dhd.2_Missense_Mutation_p.E186K	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	298					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)															---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046762	76046762	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76046762C>T	uc002jud.2	+	4	2219	c.1619C>T	c.(1618-1620)TCG>TTG	p.S540L	TNRC6C_uc002juf.2_Missense_Mutation_p.S540L|TNRC6C_uc002jue.2_Missense_Mutation_p.S540L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	540	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---
TMC8	147138	broad.mit.edu	37	17	76128901	76128901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76128901C>T	uc002jup.2	+	5	863	c.481C>T	c.(481-483)CCT>TCT	p.P161S	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	161	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)											Epidermodysplasia_Verruciformis_Familial_Clustering_of				---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76471424	76471424	+	5'Flank	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76471424T>C	uc002jvs.2	-											Homo sapiens mRNA for DNAH17 variant protein, partial cds.											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76968044	76968044	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76968044A>G	uc002jwh.2	-	6	1551	c.1372T>C	c.(1372-1374)TAC>CAC	p.Y458H	LGALS3BP_uc002jwi.2_Missense_Mutation_p.Y264H|LGALS3BP_uc010dhr.2_Missense_Mutation_p.Y264H	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	458					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)													OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77770303	77770303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77770303A>G	uc002jxd.1	-	2	199	c.106T>C	c.(106-108)TCG>CCG	p.S36P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	36	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77807929	77807929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77807929C>T	uc002jxe.2	-	5	1675	c.1512G>A	c.(1510-1512)GCG>GCA	p.A504A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78069165	78069165	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78069165G>A	uc010dht.2	+	18	2963	c.2936G>A	c.(2935-2937)CGC>CAC	p.R979H	CCDC40_uc002jxm.3_Missense_Mutation_p.R762H|CCDC40_uc002jxn.3_Missense_Mutation_p.R375H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	979					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78195462	78195462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78195462C>T	uc002jyb.1	+	3	372	c.103C>T	c.(103-105)CCC>TCC	p.P35S	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.P35S|SLC26A11_uc002jyd.1_Missense_Mutation_p.P35S|SLC26A11_uc010dhv.1_Missense_Mutation_p.P35S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	35	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	78280153	78280153	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78280153T>C	uc002jyf.2	+	12	2455	c.2312T>C	c.(2311-2313)GTT>GCT	p.V771A	uc002jyg.1_Missense_Mutation_p.V502A	NM_020954	NP_066005			hypothetical protein LOC57714																														---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78314040	78314040	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78314040C>T	uc002jyh.1	+	1	315	c.92C>T	c.(91-93)GCC>GTC	p.A31V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78317653	78317653	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78317653T>A	uc002jyh.1	+							NM_020914	NP_065965			ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78318781	78318781	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318781C>T	uc002jyh.1	+	4	1088	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321547	78321547	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321547G>A	uc002jyh.1	+	4	3854	c.3631G>A	c.(3631-3633)GTC>ATC	p.V1211I		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321938	78321938	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321938T>C	uc002jyh.1	+	4	4245	c.4022T>C	c.(4021-4023)GTC>GCC	p.V1341A		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78343340	78343340	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78343340G>A	uc002jyh.1	+	20	6636	c.6413G>A	c.(6412-6414)TGC>TAC	p.C2138Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C520Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78360533	78360533	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78360533A>C	uc002jyh.1	+	38	9206	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
AZI1	22994	broad.mit.edu	37	17	79177336	79177336	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79177336G>A	uc002jzp.1	-	6	787	c.587C>T	c.(586-588)GCG>GTG	p.A196V	AZI1_uc002jzn.1_Missense_Mutation_p.A196V|AZI1_uc002jzo.1_Missense_Mutation_p.A196V|AZI1_uc010wum.1_Missense_Mutation_p.A196V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	196					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79226324	79226324	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79226324G>A	uc002jzz.1	-	13	1991	c.1616C>T	c.(1615-1617)GCG>GTG	p.A539V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A457V|SLC38A10_uc002kab.2_Missense_Mutation_p.A539V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	539					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79254484	79254484	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79254484C>A	uc002jzz.1	-	6	926	c.551G>T	c.(550-552)CGG>CTG	p.R184L	SLC38A10_uc002jzy.1_Missense_Mutation_p.R102L|SLC38A10_uc002kab.2_Missense_Mutation_p.R184L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	184					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79384943	79384943	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79384943G>A	uc002kaf.2	+							NM_001080519	NP_001073988			BAH domain and coiled-coil containing 1								DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)															---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79687071	79687071	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79687071G>T	uc002kbi.2	+	11	914	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	SLC25A10_uc010wut.1_Missense_Mutation_p.Q431H|SLC25A10_uc010dif.2_Missense_Mutation_p.Q285H|SLC25A10_uc010wuu.1_Missense_Mutation_p.Q230H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	276	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)													---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79803083	79803083	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79803083G>A	uc002kbn.1	-	10	1580	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	P4HB_uc002kbl.1_Silent_p.R138R|P4HB_uc002kbm.1_Silent_p.R138R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	461	Thioredoxin 2.	Lowers pKa of C-terminal Cys of second active site (By similarity).			cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79804462	79804462	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79804462C>T	uc002kbn.1	-	7	1096	c.899G>A	c.(898-900)CGC>CAC	p.R300H	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	300					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)															---	---	---	---
ARHGDIA	396	broad.mit.edu	37	17	79826767	79826767	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79826767C>A	uc002kbp.2	-	5	639	c.600G>T	c.(598-600)AAG>AAT	p.K200N	ARHGDIA_uc002kjk.1_Missense_Mutation_p.K75N|ARHGDIA_uc002kbq.2_Missense_Mutation_p.K200N|ARHGDIA_uc002kbr.2_Missense_Mutation_p.R173M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Intron	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	200					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79873553	79873553	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79873553G>A	uc002kcj.1	-	4	374	c.341C>T	c.(340-342)GCG>GTG	p.A114V	SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_Missense_Mutation_p.A32V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	114	Deacetylase sirtuin-type.|NAD (By similarity).				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
RAC3	5881	broad.mit.edu	37	17	79990609	79990609	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79990609G>A	uc002kdf.2	+	3	236	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	44					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80011878	80011878	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80011878C>T	uc002kdl.1	+	3	306	c.261C>T	c.(259-261)AAC>AAT	p.N87N	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Silent_p.N127N|GPS1_uc010dij.1_Silent_p.N127N|GPS1_uc002kdm.1_Silent_p.N71N|GPS1_uc002kdn.1_Silent_p.N87N|GPS1_uc002kdo.1_Silent_p.N87N|GPS1_uc010wvh.1_Silent_p.N79N	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	87					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80014394	80014394	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80014394T>C	uc002kdl.1	+	10	1141	c.1096T>C	c.(1096-1098)TAC>CAC	p.Y366H	GPS1_uc002kdk.1_Missense_Mutation_p.Y402H|GPS1_uc010dij.1_Missense_Mutation_p.Y401H|GPS1_uc002kdm.1_Missense_Mutation_p.Y346H|GPS1_uc002kdn.1_Missense_Mutation_p.Y362H|GPS1_uc002kdo.1_Missense_Mutation_p.Y365H|GPS1_uc010wvh.1_Missense_Mutation_p.Y358H	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	366	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80136446	80136446	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80136446T>C	uc002kdz.1	-	11	1765	c.1410A>G	c.(1408-1410)CTA>CTG	p.L470L	CCDC57_uc002kdx.1_Silent_p.L470L|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	470	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80159603	80159603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80159603C>T	uc002kdz.1	-	3	573	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CCDC57_uc002kdx.1_Missense_Mutation_p.R73H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	73	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
C17orf62	79415	broad.mit.edu	37	17	80402405	80402405	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80402405C>T	uc002kez.2	-	5	409	c.361G>A	c.(361-363)GGG>AGG	p.G121R	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G121R|C17orf62_uc010dir.2_Missense_Mutation_p.G121R|C17orf62_uc002kfb.3_Missense_Mutation_p.G121R|C17orf62_uc002kfc.3_Missense_Mutation_p.G107R|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	121						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
NARF	26502	broad.mit.edu	37	17	80441653	80441653	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80441653T>G	uc002kfg.3	+	8	971	c.831T>G	c.(829-831)ACT>ACG	p.T277T	NARF_uc002kff.3_Silent_p.T218T|NARF_uc010wvp.1_Silent_p.T149T|NARF_uc010dit.2_Silent_p.T323T|NARF_uc002kfj.3_Silent_p.T229T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.T323T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	277						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80861301	80861301	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
THOC1	9984	broad.mit.edu	37	18	214854	214854	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:214854A>C	uc002kkj.3	-	21	1786	c.1746T>G	c.(1744-1746)GGT>GGG	p.G582G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Silent_p.G206G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	582	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	480755	480755	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:480755C>T	uc002kkm.2	-	2	225	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	4	Cytoplasmic (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580531	580531	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:580531C>T	uc002kko.1	+	1	165	c.123C>T	c.(121-123)GAC>GAT	p.D41D		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	41	1 (Probable).|EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TYMS	7298	broad.mit.edu	37	18	659673	659673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:659673T>C	uc010dka.1	+	2	377	c.238T>C	c.(238-240)TTC>CTC	p.F80L	C18orf56_uc002kkr.2_5'Flank|TYMS_uc010dkb.1_Missense_Mutation_p.F80L|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	80					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)													---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2885039	2885039	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2885039G>T	uc002kln.2	+	3	494	c.335G>T	c.(334-336)GGC>GTC	p.G112V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	112	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2937687	2937687	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2937687T>C	uc002klo.2	-							NM_014646	NP_055461			lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)														---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3142042	3142042	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3142042G>A	uc002klp.2	-	14	2254	c.1920C>T	c.(1918-1920)CCC>CCT	p.P640P	MYOM1_uc002klq.2_Silent_p.P640P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	640	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879483	3879483	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3879483T>C	uc002kmf.2	-	1	653	c.586A>G	c.(586-588)AGC>GGC	p.S196G	DLGAP1_uc010wyz.1_Missense_Mutation_p.S196G|DLGAP1_uc002kmk.2_Missense_Mutation_p.S196G|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	196					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
ZFP161	7541	broad.mit.edu	37	18	5291330	5291330	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5291330T>C	uc002kmq.2	-	4	1038	c.877A>G	c.(877-879)AGG>GGG	p.R293G	ZFP161_uc002kmr.2_Missense_Mutation_p.R293G|ZFP161_uc010dkp.2_Missense_Mutation_p.R293G	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	293	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395110	5395110	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5395110T>C	uc002kmt.1	-	21	3195	c.3109A>G	c.(3109-3111)AAG>GAG	p.K1037E	EPB41L3_uc010wzh.1_Missense_Mutation_p.K868E|EPB41L3_uc002kmu.1_Missense_Mutation_p.K815E|EPB41L3_uc010dkq.1_Missense_Mutation_p.K706E|EPB41L3_uc002kms.1_Missense_Mutation_p.K272E|EPB41L3_uc010wze.1_Missense_Mutation_p.K342E|EPB41L3_uc010wzf.1_Missense_Mutation_p.K334E|EPB41L3_uc010wzg.1_Missense_Mutation_p.K309E|EPB41L3_uc010dkr.2_Missense_Mutation_p.K429E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1037	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5969507	5969507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5969507G>A	uc002kmz.3	-	18	1686	c.1526C>T	c.(1525-1527)ACG>ATG	p.T509M	L3MBTL4_uc010dkt.2_Missense_Mutation_p.T509M|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T338M	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	509					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6239717	6239717	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6239717C>A	uc002kmz.3	-	9	867	c.707G>T	c.(706-708)TGG>TTG	p.W236L	L3MBTL4_uc010dkt.2_Missense_Mutation_p.W236L|L3MBTL4_uc002kmy.3_Missense_Mutation_p.W74L	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	236	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943249	6943249	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6943249G>A	uc002knm.2	-	62	9091	c.8997C>T	c.(8995-8997)GGC>GGT	p.G2999G	LAMA1_uc002knk.2_Silent_p.G329G|LAMA1_uc002knl.2_Silent_p.G452G|LAMA1_uc010wzj.1_Silent_p.G2475G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2999	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6949194	6949194	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949194A>G	uc002knm.2	-	59	8556	c.8462T>C	c.(8461-8463)GTG>GCG	p.V2821A	LAMA1_uc002knk.2_Missense_Mutation_p.V151A|LAMA1_uc002knl.2_Missense_Mutation_p.V274A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2297A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2821	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7049169	7049169	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049169G>A	uc002knm.2	-	5	770	c.676C>T	c.(676-678)CTT>TTT	p.L226F	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	226	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8069784	8069784	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8069784C>T	uc002knn.3	+	8	1736	c.1233C>T	c.(1231-1233)CAC>CAT	p.H411H	PTPRM_uc010dkv.2_Silent_p.H411H|PTPRM_uc010wzl.1_Silent_p.H198H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	411	Fibronectin type-III 2.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8370924	8370924	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8370924A>T	uc002knn.3	+	22	3555	c.3052A>T	c.(3052-3054)ATA>TTA	p.I1018L	PTPRM_uc010dkv.2_Missense_Mutation_p.I1031L|PTPRM_uc010wzl.1_Missense_Mutation_p.I805L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1018	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8376167	8376167	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8376167C>T	uc002knn.3	+	23	3759	c.3256C>T	c.(3256-3258)CCC>TCC	p.P1086S	PTPRM_uc010dkv.2_Missense_Mutation_p.P1099S|PTPRM_uc010wzl.1_Missense_Mutation_p.P873S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1086	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9211676	9211676	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9211676T>C	uc002knv.2	+	6	803	c.546T>C	c.(544-546)AAT>AAC	p.N182N	ANKRD12_uc010wzn.1_Silent_p.N182N|ANKRD12_uc002knw.2_Silent_p.N159N|ANKRD12_uc002knx.2_Silent_p.N159N	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	182						nucleus				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9522203	9522203	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9522203A>G	uc002kob.2	+	4	972	c.749A>G	c.(748-750)GAG>GGG	p.E250G	RALBP1_uc002koc.2_Missense_Mutation_p.E250G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	250	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9535901	9535901	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9535901C>T	uc002kob.2	+	10	2157	c.1934C>T	c.(1933-1935)TCG>TTG	p.S645L	RALBP1_uc002koc.2_Missense_Mutation_p.S645L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	645					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10671647	10671647	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10671647T>G	uc002kor.3	-	14	2147	c.2007A>C	c.(2005-2007)ACA>ACC	p.T669T	FAM38B_uc002koq.2_Silent_p.T504T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2712						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10696277	10696277	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10696277C>T	uc002kor.3	-	5	657	c.517G>A	c.(517-519)GCA>ACA	p.A173T	FAM38B_uc002koq.2_Missense_Mutation_p.A71T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2216						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
CIDEA	1149	broad.mit.edu	37	18	12274124	12274124	+	Silent	SNP	G	A	A	rs148408713		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12274124G>A	uc002kqt.3	+	4	428	c.363G>A	c.(361-363)CCG>CCA	p.P121P	CIDEA_uc002kqu.3_Silent_p.P155P|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	121					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12367305	12367305	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12367305A>G	uc002kqz.1	-	4	482	c.369T>C	c.(367-369)GAT>GAC	p.D123D		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	123					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)													---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678171	12678171	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12678171G>A	uc002kri.2	-	10	1716	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.D342D|CEP76_uc010wzz.1_Silent_p.D445D	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	520					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12699092	12699092	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12699092A>T	uc002kri.2	-	4	562	c.406T>A	c.(406-408)TTT>ATT	p.F136I	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	136					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---
PSMG2	56984	broad.mit.edu	37	18	12724555	12724555	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12724555C>T	uc002krk.2	+	6	682	c.639C>T	c.(637-639)AAC>AAT	p.N213N	PSMG2_uc002krg.2_Silent_p.N182N|PSMG2_uc002krj.1_Silent_p.N213N	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	213					proteasome assembly	nucleus	protein binding				0																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13087145	13087145	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13087145C>T	uc010xac.1	+	31	5826	c.5746C>T	c.(5746-5748)CGC>TGC	p.R1916C	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1441C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R338C|CEP192_uc002krw.2_Missense_Mutation_p.R65C|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1916										ovary(4)|pancreas(1)	5																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13099478	13099478	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13099478T>C	uc010xac.1	+	37	6641	c.6561T>C	c.(6559-6561)AGT>AGC	p.S2187S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S1712S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.S609S|CEP192_uc002krw.2_Silent_p.S336S|CEP192_uc002krx.2_Silent_p.S191S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2187										ovary(4)|pancreas(1)	5																		---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13438344	13438344	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13438344C>G	uc002ksa.2	+	4	810	c.142C>G	c.(142-144)CTC>GTC	p.L48V	C18orf1_uc002ksb.2_Missense_Mutation_p.L48V	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	48	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13645246	13645246	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13645246A>G	uc002ksa.2	+	7	1179	c.511A>G	c.(511-513)ACC>GCC	p.T171A	C18orf1_uc002ksb.2_Missense_Mutation_p.T153A|C18orf1_uc002kse.2_Missense_Mutation_p.T134A|C18orf1_uc002ksf.2_Missense_Mutation_p.T116A|C18orf1_uc002ksg.1_Missense_Mutation_p.T94A|C18orf1_uc002ksh.1_Missense_Mutation_p.T113A|C18orf1_uc002ksi.1_Missense_Mutation_p.T95A	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	171	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
C18orf19	125228	broad.mit.edu	37	18	13681828	13681828	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13681828A>T	uc010dlh.2	-	3	681	c.249T>A	c.(247-249)CAT>CAA	p.H83Q	C18orf19_uc010dlg.2_Missense_Mutation_p.H83Q|C18orf19_uc010dli.2_Missense_Mutation_p.H83Q|C18orf19_uc002ksj.3_Missense_Mutation_p.H83Q|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	83						integral to membrane				breast(2)	2																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13734595	13734595	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13734595A>G	uc002ksk.1	+	3	617	c.550A>G	c.(550-552)ATT>GTT	p.I184V	RNMT_uc002ksl.1_Missense_Mutation_p.I184V|RNMT_uc002ksm.1_Missense_Mutation_p.I184V|RNMT_uc010dlk.2_Missense_Mutation_p.I184V|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	184					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13742637	13742637	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13742637T>C	uc002ksk.1	+	7	1192	c.1125T>C	c.(1123-1125)TTT>TTC	p.F375F	RNMT_uc002ksl.1_Silent_p.F375F|RNMT_uc002ksm.1_Silent_p.F375F|RNMT_uc010dlk.2_Silent_p.F375F|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	375					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---
SNRPD1	6632	broad.mit.edu	37	18	19203854	19203854	+	Silent	SNP	A	G	G	rs141663553		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19203854A>G	uc002ktj.1	+	3	368	c.237A>G	c.(235-237)CTA>CTG	p.L79L		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0																		---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19762796	19762796	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19762796A>T	uc002ktt.1	+	5	1772	c.1507A>T	c.(1507-1509)ACT>TCT	p.T503S	GATA6_uc002ktu.1_Missense_Mutation_p.T503S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	503					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)															---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20814617	20814617	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:20814617T>C	uc002kuc.2	+	5	1134	c.1134T>C	c.(1132-1134)AGT>AGC	p.S378S	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Silent_p.S113S	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	378	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
C18orf8	29919	broad.mit.edu	37	18	21109232	21109232	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21109232C>T	uc010xax.1	+	16	1507	c.1386C>T	c.(1384-1386)ACC>ACT	p.T462T	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Silent_p.T86T|NPC1_uc010dlu.1_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	462										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413846	21413846	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413846G>A	uc002kuq.2	+	24	2964	c.2878G>A	c.(2878-2880)GTC>ATC	p.V960I	LAMA3_uc002kur.2_Missense_Mutation_p.V960I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	960	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21413908	21413908	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21413908G>A	uc002kuq.2	+	24	3026	c.2940G>A	c.(2938-2940)GGG>GGA	p.G980G	LAMA3_uc002kur.2_Silent_p.G980G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	980	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21496586	21496586	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21496586C>T	uc002kuq.2	+	60	7936	c.7850C>T	c.(7849-7851)GCT>GTT	p.A2617V	LAMA3_uc002kur.2_Missense_Mutation_p.A2561V|LAMA3_uc002kus.3_Missense_Mutation_p.A1008V|LAMA3_uc002kut.3_Missense_Mutation_p.A952V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2617	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21501490	21501490	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21501490T>C	uc002kuq.2	+	62	8204	c.8118T>C	c.(8116-8118)GGT>GGC	p.G2706G	LAMA3_uc002kur.2_Silent_p.G2650G|LAMA3_uc002kus.3_Silent_p.G1097G|LAMA3_uc002kut.3_Silent_p.G1041G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2706	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21508129	21508129	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21508129T>A	uc002kuq.2	+	63	8306	c.8220T>A	c.(8218-8220)AAT>AAA	p.N2740K	LAMA3_uc002kur.2_Missense_Mutation_p.N2684K|LAMA3_uc002kus.3_Missense_Mutation_p.N1131K|LAMA3_uc002kut.3_Missense_Mutation_p.N1075K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2740	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
CABYR	26256	broad.mit.edu	37	18	21739458	21739458	+	3'UTR	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21739458A>T	uc002kux.2	+	5					CABYR_uc010xbb.1_3'UTR|CABYR_uc002kuy.2_Silent_p.G188G|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_3'UTR|CABYR_uc002kvb.2_Silent_p.G90G|CABYR_uc002kvc.2_Silent_p.G188G|CABYR_uc010dlw.2_Intron	NM_012189	NP_036321			calcium-binding tyrosine						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)																	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21819305	21819305	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21819305T>C	uc002kve.2	-	16	1497	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	OSBPL1A_uc002kvd.2_5'UTR|OSBPL1A_uc010xbc.1_Silent_p.K59K|OSBPL1A_uc002kvf.3_Silent_p.K221K	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	441	Potential.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057338	22057338	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22057338T>C	uc002kvi.2	+	3	1085	c.985T>C	c.(985-987)TAT>CAT	p.Y329H	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.Y241H	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	329	Extracellular (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)													---	---	---	---
SS18	6760	broad.mit.edu	37	18	23632767	23632767	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23632767A>T	uc002kvm.2	-	5	506	c.428T>A	c.(427-429)CTC>CAC	p.L143H	SS18_uc002kvn.2_Missense_Mutation_p.L143H|SS18_uc010xbf.1_Missense_Mutation_p.L61H|SS18_uc010xbg.1_Missense_Mutation_p.L91H|SS18_uc010xbh.1_Missense_Mutation_p.L91H|SS18_uc010xbi.1_Missense_Mutation_p.L120H|SS18_uc010dlz.1_Missense_Mutation_p.L91H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	143	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23713918	23713918	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23713918T>C	uc002kvq.2	+	1					PSMA8_uc002kvo.2_5'UTR|PSMA8_uc002kvp.2_5'UTR|PSMA8_uc002kvr.2_5'UTR	NM_144662	NP_653263			proteasome alpha 8 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23738101	23738101	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23738101A>G	uc002kvq.2	+	4	502	c.388A>G	c.(388-390)AAT>GAT	p.N130D	PSMA8_uc002kvo.2_Missense_Mutation_p.N86D|PSMA8_uc002kvp.2_Missense_Mutation_p.N124D|PSMA8_uc002kvr.2_Missense_Mutation_p.N98D	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23854890	23854890	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23854890T>C	uc002kvu.3	+						TAF4B_uc002kvs.3_Intron|TAF4B_uc002kvt.3_Intron	NM_005640	NP_005631			TAF4b RNA polymerase II, TATA box binding						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)															---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24035751	24035751	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24035751G>A	uc002kvw.2	-	5	1290	c.730C>T	c.(730-732)CGT>TGT	p.R244C	KCTD1_uc010xbj.1_Missense_Mutation_p.R852C|KCTD1_uc010xbk.1_Missense_Mutation_p.R244C|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	244					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)															---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25543415	25543415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25543415C>T	uc002kwg.2	-	15	2879	c.2420G>A	c.(2419-2421)CGA>CAA	p.R807Q	CDH2_uc010xbn.1_Missense_Mutation_p.R776Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	807	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4																		---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28986263	28986263	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28986263A>G	uc002kwq.2	+	12	1995	c.1860A>G	c.(1858-1860)CAA>CAG	p.Q620Q	DSG4_uc002kwr.2_Silent_p.Q620Q	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	620	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)															---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29116236	29116236	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29116236C>A	uc002kwu.3	+	11	1683	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	499	Extracellular (Potential).|Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)															---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29410886	29410886	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29410886A>G	uc002kxc.3	-	29	4504	c.4140T>C	c.(4138-4140)CTT>CTC	p.L1380L	KIAA1012_uc002kxb.3_Silent_p.L1326L|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1380					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29432581	29432581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29432581G>A	uc002kxc.3	-	23	3843	c.3479C>T	c.(3478-3480)GCA>GTA	p.A1160V	KIAA1012_uc002kxb.3_Missense_Mutation_p.A1106V|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1160					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.A1160G(1)			0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29617122	29617122	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29617122T>C	uc002kxf.1	+	2	590	c.208T>C	c.(208-210)TGG>CGG	p.W70R		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	70	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29645945	29645945	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29645945T>C	uc002kxf.1	+	5	967	c.585T>C	c.(583-585)AGT>AGC	p.S195S		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	195					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30349949	30349949	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30349949C>A	uc002kxm.1	-	2	994	c.606G>T	c.(604-606)AAG>AAT	p.K202N		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	202						cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350377	30350377	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30350377A>T	uc002kxm.1	-	2	566	c.178T>A	c.(178-180)TCG>ACG	p.S60T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	60	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31314382	31314382	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31314382A>G	uc010dmg.1	+						ASXL3_uc002kxq.2_Intron	NM_030632	NP_085135			additional sex combs like 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31319679	31319679	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31319679T>A	uc010dmg.1	+	11	2366	c.2311T>A	c.(2311-2313)TCA>ACA	p.S771T	ASXL3_uc002kxq.2_Missense_Mutation_p.S478T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	771	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323514	31323514	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31323514T>A	uc010dmg.1	+	12	3757	c.3702T>A	c.(3700-3702)AAT>AAA	p.N1234K	ASXL3_uc002kxq.2_Missense_Mutation_p.N941K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31599387	31599387	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31599387C>T	uc010dmi.2	-	6	1180	c.951G>A	c.(949-951)TCG>TCA	p.S317S	NOL4_uc010xbs.1_Silent_p.S32S|NOL4_uc002kxr.3_Silent_p.S153S|NOL4_uc010xbt.1_Silent_p.S243S|NOL4_uc010dmh.2_Silent_p.S243S|NOL4_uc010xbu.1_Silent_p.S317S|NOL4_uc002kxt.3_Silent_p.S317S|NOL4_uc010xbv.1_Silent_p.S66S|NOL4_uc010xbw.1_Silent_p.S203S	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	317						nucleolus	RNA binding			ovary(3)	3																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32418700	32418700	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32418700C>A	uc010dmn.1	+						DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
ZNF396	252884	broad.mit.edu	37	18	32948335	32948335	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32948335A>T	uc010xcf.1	-	5	1114	c.982T>A	c.(982-984)TCA>ACA	p.S328T		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	Error:Variant_position_missing_in_Q96N95_after_alignment					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33266976	33266976	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33266976T>C	uc010dmu.2	+						GALNT1_uc002kyz.3_Intron|GALNT1_uc002kzb.2_Intron	NM_020474	NP_065207			polypeptide N-acetylgalactosaminyltransferase 1						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---
RPRD1A	55197	broad.mit.edu	37	18	33607161	33607161	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33607161A>G	uc002kzf.1	-	5	605	c.599T>C	c.(598-600)TTA>TCA	p.L200S	RPRD1A_uc002kze.1_Missense_Mutation_p.L164S|RPRD1A_uc002kzg.2_Missense_Mutation_p.L200S|RPRD1A_uc010dmw.2_Missense_Mutation_p.L164S|RPRD1A_uc010dmx.2_Missense_Mutation_p.L200S	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	200										ovary(1)|breast(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33689669	33689669	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33689669A>G	uc010dmy.2	-	10	2445	c.2155T>C	c.(2155-2157)TGT>CGT	p.C719R		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	719	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33702206	33702206	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33702206T>C	uc010dmy.2	-	5	1458	c.1168A>G	c.(1168-1170)AGC>GGC	p.S390G	SLC39A6_uc002kzj.2_Missense_Mutation_p.S115G	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	390	His-rich.|Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33726313	33726313	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33726313T>C	uc002kzk.1	+	11	1104	c.1094T>C	c.(1093-1095)TTG>TCG	p.L365S	ELP2_uc010xcg.1_Missense_Mutation_p.L430S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L339S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.L295S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	365	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33795876	33795876	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33795876C>G	uc002kzq.3	+	8	1756	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	578					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34205603	34205603	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34205603C>T	uc002kzt.1	+	10	1184	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	FHOD3_uc002kzr.1_Missense_Mutation_p.R363C|FHOD3_uc002kzs.1_Missense_Mutation_p.R363C|FHOD3_uc002kzu.1_Missense_Mutation_p.R188C|FHOD3_uc010dmz.1_Missense_Mutation_p.R116C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	363	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
C18orf10	25941	broad.mit.edu	37	18	34398915	34398915	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34398915T>C	uc002kzw.1	-	2	535	c.107A>G	c.(106-108)GAA>GGA	p.E36G	C18orf10_uc002kzv.1_Missense_Mutation_p.E36G|C18orf10_uc010xci.1_Missense_Mutation_p.E36G|C18orf10_uc002kzx.1_Missense_Mutation_p.E36G|C18orf10_uc002kzy.3_Missense_Mutation_p.E36G	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	36						cytoplasm|microtubule				skin(1)	1																		---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39620712	39620712	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39620712T>C	uc002lap.2	+						PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron|PIK3C3_uc002lar.1_Intron	NM_002647	NP_002638			catalytic phosphatidylinositol 3-kinase 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530292	42530292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42530292T>C	uc010dni.2	+	4	1283	c.987T>C	c.(985-987)CCT>CCC	p.P329P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	329						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42533228	42533228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42533228C>T	uc010dni.2	+	4	4219	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1308						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										Schinzel-Giedion_syndrome				---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43219786	43219786	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43219786G>A	uc010dnj.2	+	8	1240	c.919G>A	c.(919-921)GTG>ATG	p.V307M	SLC14A2_uc002lbb.2_Missense_Mutation_p.V307M|SLC14A2_uc002lbe.2_Missense_Mutation_p.V307M	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	307	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43450705	43450705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43450705T>C	uc002lbm.2	-	36	6152	c.6052A>G	c.(6052-6054)AAG>GAG	p.K2018E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K572E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.K893E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2018					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43510722	43510722	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43510722T>C	uc002lbm.2	-	12	2432	c.2332A>G	c.(2332-2334)ACC>GCC	p.T778A	KIAA1632_uc002lbo.1_Missense_Mutation_p.T778A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	778					autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43532382	43532382	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43532382A>G	uc002lbm.2	-	3	1336	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	KIAA1632_uc002lbo.1_Silent_p.I412I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	412					autophagy						0																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43577772	43577772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43577772G>A	uc002lbp.3	-	9	681	c.585C>T	c.(583-585)ATC>ATT	p.I195I	PSTPIP2_uc002lbq.3_Silent_p.I195I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	195						membrane				ovary(1)	1																		---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43578806	43578806	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43578806C>T	uc002lbp.3	-	8	613	c.517_splice	c.e8-1	p.L173_splice	PSTPIP2_uc002lbq.3_Splice_Site_p.L173_splice	NM_024430	NP_077748			proline-serine-threonine phosphatase interacting							membrane				ovary(1)	1																		---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43664567	43664567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43664567A>G	uc002lbr.1	-	11	1573	c.1483T>C	c.(1483-1485)TAT>CAT	p.Y495H	ATP5A1_uc010dnl.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbs.1_Missense_Mutation_p.Y445H|ATP5A1_uc002lbt.1_Missense_Mutation_p.Y495H	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	495					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0																		---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43705714	43705714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43705714C>T	uc002lbu.2	+	8	823	c.743C>T	c.(742-744)CCG>CTG	p.P248L	HAUS1_uc002lbv.2_Missense_Mutation_p.P172L	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	248					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1																		---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44470945	44470945	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44470945G>A	uc002lck.2	-	2	255	c.97C>T	c.(97-99)CGC>TGC	p.R33C	PIAS2_uc010dnp.2_Translation_Start_Site|PIAS2_uc002lcl.2_Missense_Mutation_p.R33C|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R33C|PIAS2_uc002lcn.1_Missense_Mutation_p.R37C	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	33	SAP.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44559507	44559507	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44559507G>A	uc002lcr.1	-	1	2482	c.2129C>T	c.(2128-2130)GCC>GTC	p.A710V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	710					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560674	44560674	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560674T>C	uc002lcr.1	-	1	1315	c.962A>G	c.(961-963)GAC>GGC	p.D321G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560714	44560714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560714G>A	uc002lcr.1	-	1	1275	c.922C>T	c.(922-924)CCT>TCT	p.P308S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	308					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561192	44561192	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561192A>G	uc002lcr.1	-	1	797	c.444T>C	c.(442-444)AGT>AGC	p.S148S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	148					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561608	44561608	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44561608C>T	uc002lcr.1	-	1	381	c.28G>A	c.(28-30)GCA>ACA	p.A10T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	10	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45374882	45374882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45374882G>A	uc002lcy.2	-	8	1209	c.961C>T	c.(961-963)CGA>TGA	p.R321*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.R321*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R291*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R291*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567392	45567392	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45567392G>A	uc002lda.2	-	1	103	c.87C>T	c.(85-87)CAC>CAT	p.H29H	ZBTB7C_uc002ldb.2_Silent_p.H29H|ZBTB7C_uc010dnu.2_Silent_p.H38H|ZBTB7C_uc010dnv.2_Silent_p.H51H|ZBTB7C_uc010dnw.2_Silent_p.H29H|ZBTB7C_uc010dnx.1_Silent_p.H29H|ZBTB7C_uc010dny.1_Silent_p.H29H|ZBTB7C_uc010dnz.1_Silent_p.H51H|ZBTB7C_uc010dob.1_Silent_p.H29H|ZBTB7C_uc010doc.1_Silent_p.H38H|ZBTB7C_uc010dod.1_Silent_p.H51H|ZBTB7C_uc010doe.1_Silent_p.H29H|ZBTB7C_uc010dof.1_Silent_p.H29H|ZBTB7C_uc010dog.1_Silent_p.H29H|ZBTB7C_uc010doh.1_Silent_p.H38H|ZBTB7C_uc010doi.1_Silent_p.H29H|ZBTB7C_uc010doj.1_Silent_p.H38H|ZBTB7C_uc010dok.1_Silent_p.H78H|ZBTB7C_uc010dol.1_Silent_p.H38H|ZBTB7C_uc010doa.1_Silent_p.H51H|ZBTB7C_uc010don.1_Silent_p.H37H|ZBTB7C_uc010doo.1_Silent_p.H29H|ZBTB7C_uc010dop.1_Silent_p.H29H|ZBTB7C_uc010doq.1_Silent_p.H38H|ZBTB7C_uc010dor.1_Silent_p.H51H|ZBTB7C_uc010dos.1_Silent_p.H29H|ZBTB7C_uc010dot.1_Silent_p.H29H|ZBTB7C_uc010dou.1_Silent_p.H38H|ZBTB7C_uc010dom.1_Silent_p.H38H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	29						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DYM	54808	broad.mit.edu	37	18	46645179	46645179	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46645179G>A	uc002ldi.1	-	15	2046	c.1681C>T	c.(1681-1683)CGC>TGC	p.R561C	DYM_uc010xdf.1_Missense_Mutation_p.R371C|DYM_uc002ldj.3_Missense_Mutation_p.R383C	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	561						Golgi apparatus					0																		---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47320717	47320717	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47320717T>C	uc002ldw.3	-	5	907	c.510A>G	c.(508-510)GTA>GTG	p.V170V	ACAA2_uc002ldx.3_Silent_p.V167V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	170					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47363953	47363953	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47363953G>A	uc002leb.2	-	37	5360	c.5072C>T	c.(5071-5073)GCA>GTA	p.A1691V	MYO5B_uc002ldz.2_Missense_Mutation_p.A261V|MYO5B_uc002lea.2_Missense_Mutation_p.A806V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1691	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47406824	47406824	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47406824C>T	uc002leb.2	-	23	3335	c.3047G>A	c.(3046-3048)CGA>CAA	p.R1016Q	MYO5B_uc002lea.2_Missense_Mutation_p.R157Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1016	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R1016*(1)		ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47810331	47810331	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47810331C>A	uc002leq.3	-	10	2079	c.1346G>T	c.(1345-1347)CGC>CTC	p.R449L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R306L|CXXC1_uc002ler.3_Missense_Mutation_p.R453L|CXXC1_uc010doy.2_Missense_Mutation_p.R449L|CXXC1_uc002les.2_Missense_Mutation_p.R449L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	449	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SKA1	220134	broad.mit.edu	37	18	47917530	47917530	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47917530T>C	uc002let.2	+	6	670	c.486T>C	c.(484-486)AAT>AAC	p.N162N	SKA1_uc002leu.2_Silent_p.N162N|SKA1_uc010xdl.1_Silent_p.N116N	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	162					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48255702	48255702	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48255702G>A	uc002lev.2	+	6	2242	c.1242G>A	c.(1240-1242)TCG>TCA	p.S414S	MAPK4_uc010xdm.1_Silent_p.S203S|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	414					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)														---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48603091	48603091	+	Silent	SNP	C	T	T	rs140487104	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48603091C>T	uc010xdp.1	+	11	1930	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	SMAD4_uc002lfb.3_Silent_p.A309A	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	464	Poly-Ala.|MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
DCC	1630	broad.mit.edu	37	18	50683828	50683828	+	Missense_Mutation	SNP	C	T	T	rs145985306	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50683828C>T	uc002lfe.1	+	8	1951	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DCC_uc010xdr.1_Missense_Mutation_p.A303V|DCC_uc010dpf.1_Missense_Mutation_p.A110V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
DCC	1630	broad.mit.edu	37	18	51025679	51025679	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51025679G>T	uc002lfe.1	+	27	4497	c.3910G>T	c.(3910-3912)GGA>TGA	p.G1304*	DCC_uc010dpf.1_Nonsense_Mutation_p.G937*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1304	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51731394	51731394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51731394G>A	uc002lfg.1	-	2	905	c.676C>T	c.(676-678)CGA>TGA	p.R226*	MBD2_uc002lfh.1_Nonsense_Mutation_p.R226*	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	226					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)													---	---	---	---
POLI	11201	broad.mit.edu	37	18	51807191	51807191	+	Silent	SNP	T	C	C	rs150177922		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51807191T>C	uc002lfj.3	+	5	782	c.714T>C	c.(712-714)TTT>TTC	p.F238F	POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Silent_p.F135F|POLI_uc002lfl.1_Silent_p.F170F|POLI_uc010dpg.2_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	238	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
POLI	11201	broad.mit.edu	37	18	51820609	51820609	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51820609G>A	uc002lfj.3	+	10	2063	c.1995G>A	c.(1993-1995)GAG>GAA	p.E665E	POLI_uc010xds.1_Silent_p.E586E|POLI_uc002lfk.3_Silent_p.E562E|POLI_uc010dpg.2_Silent_p.E261E	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	665					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51887090	51887090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51887090C>T	uc002lfn.3	+	2	264	c.148C>T	c.(148-150)CAA>TAA	p.Q50*	C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q50*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	50						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)														---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52924545	52924545	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52924545C>T	uc002lfz.2	-	14	1758	c.1146_splice	c.e14+1	p.L382_splice	TCF4_uc002lfw.3_Splice_Site_p.L222_splice|TCF4_uc010xdu.1_Splice_Site_p.L252_splice|TCF4_uc010xdv.1_Splice_Site_p.L252_splice|TCF4_uc002lfx.2_Splice_Site_p.L311_splice|TCF4_uc010xdw.1_Splice_Site_p.L252_splice|TCF4_uc002lfy.2_Splice_Site_p.L340_splice|TCF4_uc010xdx.1_Splice_Site_p.L358_splice|TCF4_uc010dph.1_Splice_Site_p.L382_splice|TCF4_uc010xdy.1_Splice_Site_p.L358_splice|TCF4_uc002lga.2_Splice_Site_p.L484_splice|TCF4_uc002lgb.1_Splice_Site_p.L222_splice|TCF4_uc010dpi.2_Splice_Site_p.L388_splice|TCF4_uc002lfv.2_Splice_Site_p.L165_splice	NM_003199	NP_003190			transcription factor 4 isoform b						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)														---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54281794	54281794	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54281794T>C	uc002lgg.2	-	6	845	c.596A>G	c.(595-597)AAC>AGC	p.N199S	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.N199S|TXNL1_uc002lgj.1_Missense_Mutation_p.N199S	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	199	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)														---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54353252	54353252	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54353252A>G	uc002lgk.1	+	6	797	c.586A>G	c.(586-588)AGT>GGT	p.S196G	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S196G	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	196	WD 3.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---
NARS	4677	broad.mit.edu	37	18	55287875	55287875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55287875A>G	uc002lgs.2	-	2	247	c.19T>C	c.(19-21)TAC>CAC	p.Y7H	NARS_uc002lgt.2_Missense_Mutation_p.Y6H|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.Y7H|NARS_uc010xed.1_Intron	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	7					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)													---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55919283	55919283	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55919283A>G	uc002lgy.2	+	5	568	c.294A>G	c.(292-294)AGA>AGG	p.R98R	NEDD4L_uc002lgz.2_Silent_p.R98R|NEDD4L_uc002lgx.2_Silent_p.R98R|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Silent_p.R90R|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Silent_p.R90R|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	98	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4																		---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202770	56202770	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56202770T>C	uc002lhj.3	-	5	4863	c.4649A>G	c.(4648-4650)CAC>CGC	p.H1550R	ALPK2_uc002lhk.1_Missense_Mutation_p.H881R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1550							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56587856	56587856	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56587856G>A	uc002lho.2	+	4	2884	c.2337G>A	c.(2335-2337)ACG>ACA	p.T779T	ZNF532_uc002lhp.2_Silent_p.T777T|ZNF532_uc010xeg.1_Silent_p.T777T|ZNF532_uc002lhr.2_Silent_p.T777T|ZNF532_uc002lhs.2_Silent_p.T777T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	779	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56606804	56606804	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56606804C>T	uc002lho.2	+	6	3203	c.2656C>T	c.(2656-2658)CAT>TAT	p.H886Y	ZNF532_uc002lhp.2_Missense_Mutation_p.H884Y|ZNF532_uc010xeg.1_Missense_Mutation_p.H884Y|ZNF532_uc002lhr.2_Missense_Mutation_p.H884Y|ZNF532_uc002lhs.2_Missense_Mutation_p.H884Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	886	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56620892	56620892	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56620892A>G	uc002lho.2	+	8	3558	c.3011A>G	c.(3010-3012)GAA>GGA	p.E1004G	ZNF532_uc002lhp.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeg.1_Missense_Mutation_p.E1002G|ZNF532_uc002lhr.2_Missense_Mutation_p.E1002G|ZNF532_uc002lhs.2_Missense_Mutation_p.E1002G|ZNF532_uc010xeh.1_Missense_Mutation_p.E96G	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
GRP	2922	broad.mit.edu	37	18	56892961	56892961	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56892961G>A	uc002lhv.2	+	2	475	c.377G>A	c.(376-378)GGC>GAC	p.G126D	GRP_uc002lhu.2_Intron|GRP_uc002lhw.2_Missense_Mutation_p.G126D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)																---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57006142	57006142	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57006142T>C	uc002lhz.2	-	9	1031	c.999A>G	c.(997-999)CAA>CAG	p.Q333Q		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	333	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)													---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038610	58038610	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58038610G>T	uc002lie.1	-	1	1392	c.973C>A	c.(973-975)CTT>ATT	p.L325I		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	325	Cytoplasmic (Potential).		L -> F (in obesity; does not bind alpha- MSH).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59157790	59157790	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59157790T>C	uc010dps.1	+	1	16	c.4T>C	c.(4-6)TGG>CGG	p.W2R	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59195450	59195450	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59195450T>A	uc010dps.1	+	6	1280	c.1268T>A	c.(1267-1269)ATC>AAC	p.I423N	CDH20_uc002lif.2_Missense_Mutation_p.I417N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483549	59483549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59483549G>A	uc002lih.1	-	2	560	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	50	RING-type.				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)																---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242140	60242140	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242140T>C	uc002lip.3	+	13	2826	c.2826T>C	c.(2824-2826)TCT>TCC	p.S942S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S412S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242648	60242648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60242648C>T	uc002lip.3	+	13	3334	c.3334C>T	c.(3334-3336)CCA>TCA	p.P1112S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.P582S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1112					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60562361	60562361	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60562361A>G	uc002lis.2	+	6	826	c.648A>G	c.(646-648)TCA>TCG	p.S216S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	728	LRR 4.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0																		---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61022445	61022445	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61022445T>A	uc010dpw.2	-	5	564	c.409A>T	c.(409-411)ACC>TCC	p.T137S	KDSR_uc010xem.1_Missense_Mutation_p.T137S	NM_002035	NP_002026	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase precursor	137	Cytoplasmic (Potential).				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			skin(1)	1																		---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61261619	61261619	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61261619C>T	uc002ljc.2	+	6	671	c.503C>T	c.(502-504)TCT>TTT	p.S168F	SERPINB13_uc002ljd.2_Missense_Mutation_p.S32F|SERPINB13_uc010xep.1_Missense_Mutation_p.S177F|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	168					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61378571	61378571	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61378571G>A	uc002ljk.3	+	3	233	c.171G>A	c.(169-171)GTG>GTA	p.V57V	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	57					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61449733	61449733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61449733C>T	uc002ljl.2	+	2	223	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SERPINB7_uc002ljm.2_Missense_Mutation_p.R43C|SERPINB7_uc010xet.1_Missense_Mutation_p.R43C|SERPINB7_uc010dqg.2_Missense_Mutation_p.R43C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61562597	61562597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61562597T>C	uc010xeu.1	+	4	601	c.268T>C	c.(268-270)TAT>CAT	p.Y90H	SERPINB2_uc002ljo.2_Missense_Mutation_p.Y90H|SERPINB2_uc010dqh.2_Missense_Mutation_p.Y20H|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	90					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)													---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547677	63547677	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63547677A>G	uc002ljz.2	+	12	2230	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K	CDH7_uc002lkb.2_Silent_p.K635K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	635	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64212087	64212087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64212087T>C	uc002lkc.1	-	6	967	c.829A>G	c.(829-831)ACA>GCA	p.T277A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T277A|CDH19_uc002lkd.2_Missense_Mutation_p.T277A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	277	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65180565T>C	uc002lke.1	-	2	2535	c.1311A>G	c.(1309-1311)ACA>ACG	p.T437T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66346763	66346763	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66346763T>C	uc002lkf.2	-	15	1176	c.1041A>G	c.(1039-1041)CAA>CAG	p.Q347Q	TMX3_uc010xez.1_Silent_p.Q206Q	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	347	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1																		---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678164	66678164	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66678164T>C	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67688033	67688033	+	Missense_Mutation	SNP	A	G	G	rs142159336	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67688033A>G	uc002lkp.2	-	45	6039	c.5971T>C	c.(5971-5973)TCA>CCA	p.S1991P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S1079P|RTTN_uc002lkn.2_5'UTR|RTTN_uc010dqp.2_Missense_Mutation_p.S243P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1991							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67692051	67692051	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67692051A>C	uc002lkp.2	-	44	5925	c.5857T>G	c.(5857-5859)TTG>GTG	p.L1953V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1041V|RTTN_uc010dqp.2_Missense_Mutation_p.L205V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1953							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67695984	67695984	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67695984A>G	uc002lkp.2	-	43	5867	c.5799T>C	c.(5797-5799)TGT>TGC	p.C1933C	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.C1021C|RTTN_uc010dqp.2_Silent_p.C185C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1933							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67794748	67794748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67794748C>T	uc002lkp.2	-	25	3441	c.3373G>A	c.(3373-3375)GCA>ACA	p.A1125T	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A213T	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1125							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67802453	67802453	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67802453A>C	uc002lkp.2	-	22	2920	c.2852T>G	c.(2851-2853)CTA>CGA	p.L951R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L39R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	951							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67813010	67813010	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67813010C>T	uc002lkp.2	-	18	2387	c.2319G>A	c.(2317-2319)TCG>TCA	p.S773S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	773							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67816137	67816137	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67816137G>A	uc002lkp.2	-	17	2377	c.2309C>T	c.(2308-2310)TCG>TTG	p.S770L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	770							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67860532	67860532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67860532C>T	uc002lkp.2	-	8	1067	c.999G>A	c.(997-999)GCG>GCA	p.A333A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.A333A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	333							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993122	67993122	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993122T>C	uc002lkr.1	+	2	1534	c.1218T>C	c.(1216-1218)TTT>TTC	p.F406F	SOCS6_uc010dqq.2_Silent_p.F406F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	406	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993331	67993331	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67993331G>A	uc002lkr.1	+	2	1743	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	SOCS6_uc010dqq.2_Missense_Mutation_p.R476Q	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	476	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526050	70526050	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70526050T>C	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron|NETO1_uc002lkz.2_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822396	71822396	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822396A>C	uc010dqr.1	+	2	616	c.318A>C	c.(316-318)AGA>AGC	p.R106S		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	106					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822623C>T	uc010dqr.1	+	3	745	c.447C>T	c.(445-447)TGC>TGT	p.C149C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
FAM69C	125704	broad.mit.edu	37	18	72109298	72109298	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72109298G>A	uc002llk.2	-	3	939	c.930C>T	c.(928-930)ATC>ATT	p.I310I		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	hypothetical protein LOC125704	310	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72186224	72186224	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72186224T>C	uc002llm.1	+	11	1413	c.1251T>C	c.(1249-1251)AGT>AGC	p.S417S	CNDP2_uc002lln.1_Silent_p.S333S|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	417		Substrate; via amide nitrogen and carbonyl oxygen (By similarity).				cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72353051	72353051	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72353051T>C	uc002llw.2	+	2	4832	c.4775T>C	c.(4774-4776)ATG>ACG	p.M1592T	ZNF407_uc010xfc.1_Missense_Mutation_p.M1592T|ZNF407_uc010dqu.1_Missense_Mutation_p.M1592T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72632493	72632493	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72632493G>A	uc002llw.2	+	7	5330	c.5273G>A	c.(5272-5274)CGC>CAC	p.R1758H	ZNF407_uc010dqu.1_Missense_Mutation_p.R1758H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1758	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998127	72998127	+	Silent	SNP	C	T	T	rs146373782		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998127C>T	uc002lly.2	+	2	1193	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	255	C2H2-type 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998294	72998294	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72998294A>T	uc002lly.2	+	2	1360	c.797A>T	c.(796-798)TAC>TTC	p.Y266F		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	311	C2H2-type 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999306	72999306	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72999306C>T	uc002lly.2	+	2	2372	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	648						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154214	74154214	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154214T>A	uc010dqx.1	-	2	1032	c.797A>T	c.(796-798)CAC>CTC	p.H266L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	266	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154911	74154911	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154911G>T	uc010dqx.1	-	2	335	c.100C>A	c.(100-102)CAC>AAC	p.H34N	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74583682	74583682	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74583682C>T	uc002lmi.2	+	5	760	c.562C>T	c.(562-564)CGG>TGG	p.R188W	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R188W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	188					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74635026	74635026	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74635026G>T	uc002lmi.2	+	21	3750	c.3552_splice	c.e21-1	p.R1184_splice	ZNF236_uc002lmj.2_Splice_Site	NM_007345	NP_031371			zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
MBP	4155	broad.mit.edu	37	18	74729219	74729219	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77067105	77067105	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77067105C>T	uc002lmx.2	+	15	1658	c.1644C>T	c.(1642-1644)ATC>ATT	p.I548I	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.I548I|ATP9B_uc002lmz.1_Silent_p.I242I	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	548	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77089273	77089273	+	Nonsense_Mutation	SNP	G	T	T	rs35782512	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77089273G>T	uc002lmx.2	+	16	1920	c.1906G>T	c.(1906-1908)GAG>TAG	p.E636*	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Nonsense_Mutation_p.E636*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.E330*	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	636	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170667	77170667	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170667A>G	uc010xfg.1	+	2	845	c.392A>G	c.(391-393)AAC>AGC	p.N131S	NFATC1_uc002lnc.1_Missense_Mutation_p.N131S|NFATC1_uc010xff.1_Missense_Mutation_p.N131S|NFATC1_uc002lnd.2_Missense_Mutation_p.N131S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.N131S|NFATC1_uc010xfi.1_Missense_Mutation_p.N118S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.N118S|NFATC1_uc002lng.2_Missense_Mutation_p.N118S|NFATC1_uc010xfk.1_Missense_Mutation_p.N118S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	131	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77208854	77208854	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77208854C>T	uc010xfg.1	+	4	1912	c.1459C>T	c.(1459-1461)CGC>TGC	p.R487C	NFATC1_uc002lnc.1_Missense_Mutation_p.R487C|NFATC1_uc010xff.1_Missense_Mutation_p.R487C|NFATC1_uc002lnd.2_Missense_Mutation_p.R487C|NFATC1_uc002lne.2_Missense_Mutation_p.R15C|NFATC1_uc010xfh.1_Missense_Mutation_p.R487C|NFATC1_uc010xfi.1_Missense_Mutation_p.R474C|NFATC1_uc010xfj.1_Missense_Mutation_p.R15C|NFATC1_uc002lnf.2_Missense_Mutation_p.R474C|NFATC1_uc002lng.2_Missense_Mutation_p.R474C|NFATC1_uc010xfk.1_Missense_Mutation_p.R474C	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	487	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77659249	77659249	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77659249G>T	uc010xfl.1	+	2	834	c.834G>T	c.(832-834)AAG>AAT	p.K278N		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	278					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894427	77894427	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77894427A>G	uc002lnw.2	+	4	1586	c.1131A>G	c.(1129-1131)CCA>CCG	p.P377P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	377	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895701	77895701	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77895701A>T	uc002lnw.2	+	4	2860	c.2405A>T	c.(2404-2406)GAT>GTT	p.D802V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	802					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291276	291276	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291276G>A	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PPAP2C	8612	broad.mit.edu	37	19	291279	291279	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:291279T>C	uc002loi.2	-						PPAP2C_uc002loh.2_5'Flank|PPAP2C_uc002loj.2_Intron	NM_003712	NP_003703			phosphatidic acid phosphatase type 2C isoform 1						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	624774	624774	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:624774G>A	uc002lpf.1	-	5	1141	c.1085C>T	c.(1084-1086)CCG>CTG	p.P362L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	362					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746583	746583	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746583G>T	uc002lpm.1	+	9	1127	c.933G>T	c.(931-933)GAG>GAT	p.E311D	PALM_uc002lpn.1_Missense_Mutation_p.E267D|PALM_uc010xfu.1_Missense_Mutation_p.E176D	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	311					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
PALM	5064	broad.mit.edu	37	19	746586	746586	+	Silent	SNP	C	A	A	rs142619819		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746586C>A	uc002lpm.1	+	9	1130	c.936C>A	c.(934-936)GCC>GCA	p.A312A	PALM_uc002lpn.1_Silent_p.A268A|PALM_uc010xfu.1_Silent_p.A177A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	312					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)														---	---	---	---
C19orf21	126353	broad.mit.edu	37	19	758560	758560	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:758560G>A	uc002lpo.2	+	2	1697	c.1614G>A	c.(1612-1614)CTG>CTA	p.L538L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	538										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	971952	971952	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1068749	1068749	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1068749A>C	uc002lqz.1	+						HMHA1_uc010xgd.1_Intron|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_Intron|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424			minor histocompatibility antigen HA-1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
POLR2E	5434	broad.mit.edu	37	19	1094045	1094045	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1094045C>T	uc002lre.3	-	2	167	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	30					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1231118	1231118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1231118G>A	uc002lrm.2	-	9	1393	c.1118C>T	c.(1117-1119)CCG>CTG	p.P373L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	399						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)											HNSCC(14;0.022)			---	---	---	---
APC2	10297	broad.mit.edu	37	19	1462161	1462161	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1462161C>T	uc002lsr.1	+	14	2046	c.1838C>T	c.(1837-1839)ACC>ATC	p.T613I	APC2_uc002lss.1_Missense_Mutation_p.T195I|APC2_uc002lst.1_Missense_Mutation_p.T613I|APC2_uc002lsu.1_Missense_Mutation_p.T612I|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1585094	1585094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1585094C>T	uc002ltl.1	-	2	252	c.230G>A	c.(229-231)AGC>AAC	p.S77N	MBD3_uc002ltj.2_Missense_Mutation_p.S77N|MBD3_uc002ltk.2_Missense_Mutation_p.S45N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	77					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1795914	1795914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1795914C>A	uc002ltw.2	-	18	2249	c.2015G>T	c.(2014-2016)AGG>ATG	p.R672M	ATP8B3_uc002ltv.2_Missense_Mutation_p.R625M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	672	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)												OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827534	1827534	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1827534C>T	uc002lua.3	-	2	1349	c.1254G>A	c.(1252-1254)CCG>CCA	p.P418P	REXO1_uc010dsr.1_Silent_p.P372P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	418						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CSNK1G2	1455	broad.mit.edu	37	19	1979366	1979366	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1979366G>A	uc002lul.3	+	9	1340	c.817G>A	c.(817-819)GCC>ACC	p.A273T	CSNK1G2_uc010dsu.2_Missense_Mutation_p.A225T	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	273	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
BTBD2	55643	broad.mit.edu	37	19	1987258	1987258	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1987258G>A	uc002lup.1	-						BTBD2_uc002luo.1_Intron	NM_017797	NP_060267			BTB (POZ) domain containing 2							cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2102260	2102260	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2102260T>C	uc002luz.2	-	30	3597	c.3374A>G	c.(3373-3375)AAC>AGC	p.N1125S	AP3D1_uc010dsv.2_Missense_Mutation_p.N215S|AP3D1_uc002luy.2_Missense_Mutation_p.N1084S|AP3D1_uc002lva.2_Missense_Mutation_p.N1187S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1125					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129320	2129320	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129320C>T	uc002luz.2	-	7	952	c.729G>A	c.(727-729)AAG>AAA	p.K243K	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.K243K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	243					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129360	2129360	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129360G>A	uc002luz.2	-	7	912	c.689C>T	c.(688-690)ACG>ATG	p.T230M	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.T230M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	230					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2202760	2202760	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2202760T>C	uc002lvb.3	+	9	805	c.769T>C	c.(769-771)TTT>CTT	p.F257L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	257						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
LMNB2	84823	broad.mit.edu	37	19	2435063	2435063	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2435063C>T	uc002lvy.2	-	5	818	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	LMNB2_uc002lwa.1_Missense_Mutation_p.R264Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	244	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNG7	2788	broad.mit.edu	37	19	2515092	2515092	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2515092G>T	uc002lwd.2	-	5	372	c.135C>A	c.(133-135)AAC>AAA	p.N45K	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2794776	2794776	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2794776C>A	uc002lwj.2	+	3	399	c.244C>A	c.(244-246)CTT>ATT	p.L82I	THOP1_uc010xgz.1_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	82					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807650	2807650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807650C>T	uc002lwj.2	+	8	1252	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	THOP1_uc010xgz.1_Missense_Mutation_p.T245M|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	366					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807711	2807711	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807711C>T	uc002lwj.2	+	8	1313	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	THOP1_uc010xgz.1_Silent_p.G265G|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	386					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807736	2807736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2807736C>T	uc002lwj.2	+	8	1338	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	THOP1_uc010xgz.1_Missense_Mutation_p.R274W|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3005923	3005923	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3005923C>T	uc002lww.2	-	16	1807	c.1544G>A	c.(1543-1545)GGC>GAC	p.G515D	TLE2_uc010xhb.1_Missense_Mutation_p.G182D|TLE2_uc010dth.2_Missense_Mutation_p.G516D|TLE2_uc010xhc.1_Missense_Mutation_p.G393D|TLE2_uc010dti.2_Missense_Mutation_p.G529D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	515	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
AES	166	broad.mit.edu	37	19	3061264	3061264	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3061264A>G	uc002lwy.1	-						AES_uc002lwz.1_Intron|AES_uc002lxa.1_Intron|AES_uc002lxb.1_Intron|AES_uc002lxc.2_Intron	NM_001130	NP_001121			amino-terminal enhancer of split isoform b						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
GNA11	2767	broad.mit.edu	37	19	3121099	3121099	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3121099G>A	uc002lxd.2	+	7	1244	c.1002G>A	c.(1000-1002)ACG>ACA	p.T334T	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	334					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)				Mis		uveal melanoma								---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3150136	3150136	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3150136C>T	uc002lxf.2	+	3	596	c.338C>T	c.(337-339)GCT>GTT	p.A113V	GNA15_uc010xhf.1_Missense_Mutation_p.A113V	NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	113					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3155864	3155864	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3155864A>T	uc002lxf.2	+	5	916	c.658A>T	c.(658-660)ATC>TTC	p.I220F		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	220					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|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			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---
S1PR4	8698	broad.mit.edu	37	19	3179649	3179649	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3179649C>T	uc002lxg.2	+	1	884	c.859C>T	c.(859-861)CGG>TGG	p.R287W		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	287	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2																		---	---	---	---
NCLN	56926	broad.mit.edu	37	19	3207616	3207616	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3207616T>C	uc002lxi.2	+						NCLN_uc002lxh.1_Intron|NCLN_uc002lxj.1_Intron|NCLN_uc002lxk.2_Intron	NM_020170	NP_064555			nicalin precursor						proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3281228	3281228	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3281228C>T	uc002lxm.2	+	6	672	c.635C>T	c.(634-636)GCC>GTC	p.A212V	CELF5_uc002lxl.1_Missense_Mutation_p.A212V|CELF5_uc010dtj.1_Missense_Mutation_p.A212V|CELF5_uc010xhg.1_Missense_Mutation_p.A98V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	212	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---
C19orf28	126321	broad.mit.edu	37	19	3551131	3551131	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3551131C>T	uc002lxz.2	-	2	530	c.360G>A	c.(358-360)GCG>GCA	p.A120A	C19orf28_uc002lxw.2_Silent_p.A120A|C19orf28_uc002lxx.2_Silent_p.A120A|C19orf28_uc002lxy.2_Silent_p.A111A	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	120					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf29	58509	broad.mit.edu	37	19	3620185	3620185	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3620185T>C	uc002lyh.2	-	4	877	c.824A>G	c.(823-825)GAG>GGG	p.E275G	C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Missense_Mutation_p.E123G|C19orf29_uc002lyi.3_Missense_Mutation_p.E275G|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	275	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3656486	3656486	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3656486T>C	uc002lyj.1	-	6	595	c.538A>G	c.(538-540)ACC>GCC	p.T180A	PIP5K1C_uc010xhq.1_Missense_Mutation_p.T180A|PIP5K1C_uc010xhr.1_Missense_Mutation_p.T180A	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	180	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3733891	3733891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3733891C>T	uc010xhv.1	+	6	915	c.915C>T	c.(913-915)AGC>AGT	p.S305S	TJP3_uc010xhs.1_Silent_p.S286S|TJP3_uc010xht.1_Silent_p.S250S|TJP3_uc010xhu.1_Silent_p.S295S|TJP3_uc010xhw.1_Silent_p.S305S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	286						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3834970	3834970	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3834970G>A	uc002lyw.2	-	2	77	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	22						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)														---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4013158	4013158	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
MAP2K2	5605	broad.mit.edu	37	19	4099374	4099374	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4099374C>A	uc002lzk.2	-	7	998	c.744G>T	c.(742-744)TCG>TCT	p.S248S	MAP2K2_uc002lzj.2_Silent_p.S58S	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	248	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										Cardiofaciocutaneous_syndrome				---	---	---	---
CREB3L3	84699	broad.mit.edu	37	19	4157037	4157037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4157037C>A	uc002lzl.2	+	3	318	c.202C>A	c.(202-204)CTG>ATG	p.L68M	CREB3L3_uc002lzm.2_Missense_Mutation_p.L58M|CREB3L3_uc010xib.1_Missense_Mutation_p.L59M|CREB3L3_uc010xic.1_Missense_Mutation_p.L59M	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	68	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4216957	4216957	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4216957A>G	uc010dtt.1	+	18	2076	c.1800A>G	c.(1798-1800)AAA>AAG	p.K600K	ANKRD24_uc002lzs.2_Silent_p.K571K|ANKRD24_uc002lzt.2_Silent_p.K572K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	600											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)														---	---	---	---
EBI3	10148	broad.mit.edu	37	19	4234673	4234673	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4234673A>G	uc002lzu.2	+	4	397	c.389A>G	c.(388-390)GAC>GGC	p.D130G		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	130	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SH3GL1	6455	broad.mit.edu	37	19	4365591	4365591	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4365591C>A	uc002maj.2	-	4	325	c.219G>T	c.(217-219)ACG>ACT	p.T73T	SH3GL1_uc002mak.2_Silent_p.T73T|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	73	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)				T	MLL	AL								---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4491791C>T	uc002mao.2	+	6	730	c.637C>T	c.(637-639)CGG>TGG	p.R213W	HDGFRP2_uc002map.2_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4504480	4504480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4504480G>A	uc002mar.1	-	6	4065	c.4065C>T	c.(4063-4065)GGC>GGT	p.G1355G	PLIN4_uc010dub.1_Silent_p.G379G	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1355						lipid particle|plasma membrane					0																		---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511907	4511907	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4511907C>A	uc002mar.1	-	3	2023	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	675	18.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0																		---	---	---	---
SEMA6B	10501	broad.mit.edu	37	19	4548328	4548328	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4548328C>T	uc010duc.1	-	12	1439	c.1401G>A	c.(1399-1401)GGG>GGA	p.G467G	SEMA6B_uc010dud.2_Silent_p.G467G|SEMA6B_uc010xih.1_Silent_p.G467G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	467	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4705902	4705902	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4705902G>T	uc002mba.2	-	5	652	c.394C>A	c.(394-396)CTG>ATG	p.L132M	DPP9_uc002mbb.2_Missense_Mutation_p.L132M|DPP9_uc002mbc.2_Missense_Mutation_p.L132M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	103					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)														---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5040024	5040024	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5040024T>C	uc002mbq.3	+	4	543	c.317_splice	c.e4+2	p.K106_splice	KDM4B_uc010xil.1_Splice_Site_p.K106_splice|KDM4B_uc010xim.1_Splice_Site_p.K106_splice	NM_015015	NP_055830			jumonji domain containing 2B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1																		---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5221144	5221144	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5221144C>T	uc002mbv.2	-	20	3556	c.3322G>A	c.(3322-3324)GGC>AGC	p.G1108S	PTPRS_uc002mbu.1_Missense_Mutation_p.G677S|PTPRS_uc010xin.1_Missense_Mutation_p.G677S|PTPRS_uc002mbw.2_Missense_Mutation_p.G1086S|PTPRS_uc002mbx.2_Missense_Mutation_p.G681S|PTPRS_uc002mby.2_Missense_Mutation_p.G677S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1108	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5225736	5225736	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5225736A>G	uc002mbv.2	-	17	2728	c.2494_splice	c.e17+1	p.V832_splice	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Splice_Site_p.V810_splice|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5455652	5455652	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5455652G>T	uc002mca.3	+	1	227	c.150G>T	c.(148-150)AAG>AAT	p.K50N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	50	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5592843	5592843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5592843G>A	uc002mcd.2	-	16	2475	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	755	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)														---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5691598	5691598	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5691598C>T	uc002mcv.2	+	4	353	c.284C>T	c.(283-285)GCC>GTC	p.A95V	RPL36_uc002mcw.2_Missense_Mutation_p.A95V	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0																OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LONP1	9361	broad.mit.edu	37	19	5714193	5714193	+	Splice_Site	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5714193C>G	uc002mcx.2	-	2	551	c.518_splice	c.e2+1	p.S173_splice	LONP1_uc002mcy.2_Splice_Site_p.S109_splice|LONP1_uc010duh.2_Splice_Site|LONP1_uc010dui.2_Splice_Site_p.S173_splice|LONP1_uc002mcz.2_Splice_Site	NM_004793	NP_004784			mitochondrial lon peptidase 1 precursor						cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0																		---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5776331	5776331	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5776331G>A	uc002mda.2	+							NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5788365	5788365	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5788365T>C	uc002mdc.2	-						DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560			dihydrouridine synthase 3-like isoform 1						tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0																		---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6187702	6187702	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6418522	6418522	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6418522C>T	uc002mer.3	-	9	961	c.851G>A	c.(850-852)CGC>CAC	p.R284H		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	284	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6476977	6476977	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6476977C>A	uc002mfe.2	-	10	661	c.569G>T	c.(568-570)AGG>ATG	p.R190M	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.R146M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1																		---	---	---	---
TUBB4	10382	broad.mit.edu	37	19	6501519	6501519	+	Intron	SNP	G	A	A	rs79044721	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6501519G>A	uc002mfg.1	-						TUBB4_uc002mff.1_Intron	NM_006087	NP_006078			tubulin, beta 4						'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)														---	---	---	---
C3	718	broad.mit.edu	37	19	6697697	6697697	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6697697A>C	uc002mfm.2	-	20	2611	c.2549T>G	c.(2548-2550)GTT>GGT	p.V850G		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	850					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
C3	718	broad.mit.edu	37	19	6710735	6710735	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6710735T>C	uc002mfm.2	-	13	1663	c.1601A>G	c.(1600-1602)TAC>TGC	p.Y534C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	534					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6750304	6750304	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6750304C>T	uc002mfs.2	+	13	1463	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	TRIP10_uc010dux.1_Missense_Mutation_p.A410V|TRIP10_uc002mfr.2_Missense_Mutation_p.A410V|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A229V	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1																		---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754060	6754060	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6754060T>C	uc002mft.2	-						SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481			SH2 domain containing 3A						JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6853059	6853059	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6853059G>A	uc002mfu.1	+	25	2398	c.2301G>A	c.(2299-2301)GAG>GAA	p.E767E	VAV1_uc010xjh.1_Silent_p.E735E|VAV1_uc010dva.1_Silent_p.E745E|VAV1_uc002mfv.1_Silent_p.E712E	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	767					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6921803	6921803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6921803G>A	uc002mfw.2	+	14	1738	c.1700G>A	c.(1699-1701)TGT>TAT	p.C567Y	EMR1_uc010dvc.2_Missense_Mutation_p.C567Y|EMR1_uc010dvb.2_Missense_Mutation_p.C515Y|EMR1_uc010xji.1_Missense_Mutation_p.C426Y|EMR1_uc010xjj.1_Missense_Mutation_p.C390Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	567	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6935098	6935098	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6935098C>A	uc002mfw.2	+						EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965			egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937571	6937571	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937571A>G	uc002mfw.2	+	20	2605	c.2567A>G	c.(2566-2568)AAG>AGG	p.K856R	EMR1_uc010dvc.2_Missense_Mutation_p.K791R|EMR1_uc010dvb.2_Missense_Mutation_p.K837R|EMR1_uc010xji.1_Missense_Mutation_p.K715R|EMR1_uc010xjj.1_Missense_Mutation_p.K679R	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	856	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937586	6937586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6937586G>A	uc002mfw.2	+	20	2620	c.2582G>A	c.(2581-2583)GGG>GAG	p.G861E	EMR1_uc010dvc.2_Missense_Mutation_p.G796E|EMR1_uc010dvb.2_Missense_Mutation_p.G842E|EMR1_uc010xji.1_Missense_Mutation_p.G720E|EMR1_uc010xjj.1_Missense_Mutation_p.G684E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	861	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---
EMR4P	326342	broad.mit.edu	37	19	6988789	6988789	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6988789T>A	uc010xjk.1	-						EMR4P_uc010dve.1_5'Flank	NR_024075				RecName: Full=Putative EGF-like module-containing mucin-like hormone receptor-like 4; AltName: Full=G-protein coupled receptor 127; AltName: Full=G-protein coupled receptor PGR16; Flags: Precursor;												0																		---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082971	7082971	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7082971A>T	uc002mgb.2	+	8	973	c.488A>T	c.(487-489)CAC>CTC	p.H163L	ZNF557_uc002mga.2_Missense_Mutation_p.H170L|ZNF557_uc002mgc.2_Missense_Mutation_p.H170L	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	163	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)														---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125510	7125510	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125510G>A	uc002mgd.1	-	17	3151	c.3042C>T	c.(3040-3042)GAC>GAT	p.D1014D	INSR_uc002mge.1_Silent_p.D1002D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1014	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125522	7125522	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7125522C>T	uc002mgd.1	-	17	3139	c.3030G>A	c.(3028-3030)GTG>GTA	p.V1010V	INSR_uc002mge.1_Silent_p.V998V	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1010	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
INSR	3643	broad.mit.edu	37	19	7166350	7166350	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7166350A>G	uc002mgd.1	-	8	1785	c.1676T>C	c.(1675-1677)GTA>GCA	p.V559A	INSR_uc002mge.1_Missense_Mutation_p.V559A|INSR_uc002mgf.2_Missense_Mutation_p.V559A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	559					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
ARHGEF18	23370	broad.mit.edu	37	19	7509264	7509264	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7509264G>A	uc002mgi.2	+	4	1224	c.971G>A	c.(970-972)CGC>CAC	p.R324H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)																---	---	---	---
C19orf45	374877	broad.mit.edu	37	19	7569089	7569089	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7569089A>G	uc002mgm.2	+	3	801	c.660A>G	c.(658-660)CCA>CCG	p.P220P	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	220											0																		---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7593720	7593720	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7593720T>C	uc002mgo.2	+	9	1123	c.998T>C	c.(997-999)TTC>TCC	p.F333S	MCOLN1_uc002mgp.2_Missense_Mutation_p.F298S	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	333					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1																		---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7692152	7692152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7692152G>A	uc002mgx.2	-	4	525	c.499C>T	c.(499-501)CGA>TGA	p.R167*	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	167	HAT 5.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4													Direct_reversal_of_damage|NER					---	---	---	---
PCP2	126006	broad.mit.edu	37	19	7696662	7696662	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7696662A>G	uc002mgz.2	-	4	551	c.324T>C	c.(322-324)AGT>AGC	p.S108S	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	108					signal transduction		GTPase activator activity				0																		---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7708040	7708040	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7708040G>A	uc002mha.3	+						STXBP2_uc002mhb.3_Intron|STXBP2_uc010dvj.2_Intron|STXBP2_uc010xjr.1_Intron|STXBP2_uc010dvk.2_Intron|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880			syntaxin binding protein 2 isoform a						leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1																		---	---	---	---
CLEC4G	339390	broad.mit.edu	37	19	7794289	7794289	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7794289T>G	uc002mhp.3	-	9	914	c.845A>C	c.(844-846)AAG>ACG	p.K282T		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	282	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0																		---	---	---	---
EVI5L	115704	broad.mit.edu	37	19	7914150	7914150	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7914150G>A	uc002min.2	+	5	715	c.561G>A	c.(559-561)TCG>TCA	p.S187S	EVI5L_uc010xjz.1_Silent_p.S187S|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	187	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7976042	7976042	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7976042G>A	uc002mit.2	+	7	918	c.853G>A	c.(853-855)GCA>ACA	p.A285T	MAP2K7_uc002miv.2_Missense_Mutation_p.A285T|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A285T|MAP2K7_uc010dvv.2_Missense_Mutation_p.A160T	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	285	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7977189	7977189	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7977189G>T	uc002mit.2	+	11	1198	c.1133G>T	c.(1132-1134)AGC>ATC	p.S378I	MAP2K7_uc002miv.2_Missense_Mutation_p.S385I|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S385I|MAP2K7_uc010dvv.2_Missense_Mutation_p.S253I	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	378	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)													---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987422	7987422	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7987422T>C	uc002miw.1	+	5	801	c.778T>C	c.(778-780)TAC>CAC	p.Y260H	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	260					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
CCL25	6370	broad.mit.edu	37	19	8121288	8121288	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8121288A>T	uc002mjd.2	+	3	230	c.230A>T	c.(229-231)AAC>ATC	p.N77I	CCL25_uc002mjc.3_Missense_Mutation_p.N77I|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	77					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0																		---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8175763	8175763	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8175763G>A	uc002mjf.2	-	33	4320	c.4299C>T	c.(4297-4299)GGC>GGT	p.G1433G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1433	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550638	8550638	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8550638C>T	uc010dwe.2	+	14	1406	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	HNRNPM_uc010xke.1_Silent_p.D388D|HNRNPM_uc010dwd.2_Silent_p.D403D|HNRNPM_uc002mka.2_Silent_p.D307D|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|6.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0																		---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8563997	8563997	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8563997T>C	uc002mkd.2	-	2	715	c.695A>G	c.(694-696)CAG>CGG	p.Q232R	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0																		---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595214	8595214	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8595214G>A	uc002mkg.2	-	21	2308	c.2194C>T	c.(2194-2196)CGC>TGC	p.R732C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	732						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3																		---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8661991	8661991	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8661991G>A	uc002mkj.1	-	8	1194	c.920C>T	c.(919-921)GCC>GTC	p.A307V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4																		---	---	---	---
MBD3L1	85509	broad.mit.edu	37	19	8953661	8953661	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8953661G>A	uc002mko.2	+	1	393	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8973596	8973596	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8973596G>A	uc002mkp.2	-	77	42924	c.42720C>T	c.(42718-42720)GGC>GGT	p.G14240G	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G1040G|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9003630	9003630	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9003630T>G	uc002mkp.2	-	49	40214	c.40010A>C	c.(40009-40011)GAG>GCG	p.E13337A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E154A|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13339	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9008180	9008180	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9008180G>A	uc002mkp.2	-	41	39576	c.39372C>T	c.(39370-39372)TAC>TAT	p.Y13124Y	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13126	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9014204	9014204	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9014204C>A	uc002mkp.2	-	32	38648	c.38444G>T	c.(38443-38445)GGT>GTT	p.G12815V	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12817	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9019996	9019996	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9019996A>T	uc002mkp.2	-	21	37703	c.37499T>A	c.(37498-37500)CTC>CAC	p.L12500H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12502	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9024831	9024831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9024831A>T	uc002mkp.2	-	16	37235	c.37031T>A	c.(37030-37032)GTC>GAC	p.V12344D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12346	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046516	9046516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046516G>A	uc002mkp.2	-	5	35319	c.35115C>T	c.(35113-35115)ACC>ACT	p.T11705T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11707	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9047431	9047431	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9047431T>A	uc002mkp.2	-	5	34404	c.34200A>T	c.(34198-34200)GTA>GTT	p.V11400V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11402	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068197	9068197	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9068197G>A	uc002mkp.2	-	3	19453	c.19249C>T	c.(19249-19251)CCC>TCC	p.P6417S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6419	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072001	9072001	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072001T>C	uc002mkp.2	-	3	15649	c.15445A>G	c.(15445-15447)AAA>GAA	p.K5149E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5151	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076686	9076686	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076686G>A	uc002mkp.2	-	3	10964	c.10760C>T	c.(10759-10761)GCT>GTT	p.A3587V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3588	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091505	9091505	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091505A>G	uc002mkp.2	-	1	514	c.310T>C	c.(310-312)TCG>CCG	p.S104P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	104	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091600	9091600	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091600A>G	uc002mkp.2	-	1	419	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	72	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204164	9204164	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9204164C>A	uc010xkj.1	+	1	244	c.244C>A	c.(244-246)CTG>ATG	p.L82M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3																		---	---	---	---
OR7G3	390883	broad.mit.edu	37	19	9236852	9236852	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9236852A>G	uc010xkl.1	-	1	775	c.775T>C	c.(775-777)TAC>CAC	p.Y259H		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9325015	9325015	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9325015T>C	uc002mla.1	-	1	499	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578698	9578698	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9578698C>T	uc002mlp.1	-	10	1135	c.925G>A	c.(925-927)GCA>ACA	p.A309T	ZNF560_uc010dwr.1_Missense_Mutation_p.A203T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	309	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9676744	9676744	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9676744A>C	uc010xkp.1	-	4	1277	c.1045T>G	c.(1045-1047)TTC>GTC	p.F349V	ZNF121_uc010dwt.2_Missense_Mutation_p.F349V|ZNF121_uc010xkq.1_Missense_Mutation_p.F349V	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	349	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764069	9764069	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764069T>C	uc010xks.1	-	6	1000	c.837A>G	c.(835-837)GCA>GCG	p.A279A	ZNF562_uc002mly.2_Silent_p.A279A|ZNF562_uc002mlx.2_Silent_p.A207A|ZNF562_uc010xkt.1_Silent_p.A242A|ZNF562_uc010xku.1_Silent_p.A210A|ZNF562_uc010xkv.1_Silent_p.A278A|ZNF562_uc010xkw.1_Silent_p.A163A	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	279	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9868340	9868340	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9868340C>T	uc002mmb.1	-	6	1944	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T342T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	471	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9922090	9922090	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9922090A>G	uc002mme.2	-	3	705	c.463T>C	c.(463-465)TGC>CGC	p.C155R	FBXL12_uc002mmd.2_Missense_Mutation_p.C102R|FBXL12_uc002mmf.2_Missense_Mutation_p.C102R|FBXL12_uc002mmg.2_Missense_Mutation_p.C102R|FBXL12_uc002mmh.2_Missense_Mutation_p.C102R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	155							protein binding			lung(1)|kidney(1)	2																		---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10108053	10108053	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10108053A>C	uc002mmq.1	-	11	1343	c.1257T>G	c.(1255-1257)GGT>GGG	p.G419G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	419	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10250789	10250789	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10250789C>A	uc002mng.2	-	32	3871	c.3691G>T	c.(3691-3693)GGC>TGC	p.G1231C	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.G155C|DNMT1_uc010xlc.1_Missense_Mutation_p.G1247C|DNMT1_uc002mnh.2_Missense_Mutation_p.G1126C|DNMT1_uc010xld.1_Missense_Mutation_p.G1231C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1231	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)													---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10428998	10428998	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10428998G>A	uc002moa.2	-	11	2027	c.1947C>T	c.(1945-1947)GGC>GGT	p.G649G	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Silent_p.G17G	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	478						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)															---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10610576G>A	uc002moq.1	-	2	290	c.134C>T	c.(133-135)TCC>TTC	p.S45F	KEAP1_uc002mor.1_Missense_Mutation_p.S45F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)															---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10662732	10662732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10662732C>T	uc002mov.2	+	8	1177	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L	ATG4D_uc010xlh.1_Silent_p.L290L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Silent_p.L20L|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	353					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)															---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10912952	10912952	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10912952G>A	uc002mps.1	+						DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Intron|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Intron	NM_001005361	NP_001005361			dynamin 2 isoform 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)															---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11113781	11113781	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11113781G>A	uc002mqf.3	+	12	2173	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G630D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G630D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G630D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G630D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G630D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	630					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11121158	11121158	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11121158T>C	uc002mqf.3	+	15	2509	c.2225T>C	c.(2224-2226)GTG>GCG	p.V742A	SMARCA4_uc010dxp.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxo.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqg.1_Missense_Mutation_p.V742A|SMARCA4_uc010dxq.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxr.2_Missense_Mutation_p.V742A|SMARCA4_uc002mqj.3_Missense_Mutation_p.V742A|SMARCA4_uc010dxs.2_Missense_Mutation_p.V742A|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	742					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11135038	11135038	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11135038C>T	uc002mqf.3	+	21	3289	c.3005C>T	c.(3004-3006)GCG>GTG	p.A1002V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1002V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1002V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1002V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1002V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A222V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A125V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A205V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1002					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11311643	11311643	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11311643G>A	uc002mqs.3	-	45	5815	c.5774C>T	c.(5773-5775)CCA>CTA	p.P1925L	DOCK6_uc002mqr.3_Missense_Mutation_p.P325L|DOCK6_uc010xlq.1_Missense_Mutation_p.P1264L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1925	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
LPPR2	64748	broad.mit.edu	37	19	11473321	11473321	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11473321G>A	uc002mre.1	+	7	1133	c.796G>A	c.(796-798)GTG>ATG	p.V266M	LPPR2_uc002mrf.1_Missense_Mutation_p.V241M|LPPR2_uc010dxy.1_Missense_Mutation_p.V73M	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	266	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1																		---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832634	11832634	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11832634C>A	uc002msm.2	-	4	1841	c.1715G>T	c.(1714-1716)GGA>GTA	p.G572V	ZNF823_uc010xmd.1_Missense_Mutation_p.G390V|ZNF823_uc010dyi.1_Missense_Mutation_p.G528V	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	572	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2															HNSCC(68;0.2)			---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11891793	11891793	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11891793C>G	uc010dyj.2	+	4	1348	c.1154C>G	c.(1153-1155)ACT>AGT	p.T385S	ZNF441_uc002msn.3_Missense_Mutation_p.T341S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	385	C2H2-type 8.			T -> A (in Ref. 1; BAC04661).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12059503	12059503	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12059503T>C	uc002msu.2	+	4	790	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	ZNF700_uc010xme.1_Missense_Mutation_p.Y240H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	222	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060238	12060238	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060238A>G	uc002msu.2	+	4	1525	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	ZNF700_uc010xme.1_Missense_Mutation_p.T485A|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	467	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060550	12060550	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12060550A>G	uc002msu.2	+	4	1837	c.1711A>G	c.(1711-1713)AAA>GAA	p.K571E	ZNF700_uc010xme.1_Missense_Mutation_p.K589E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	571	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12087930	12087930	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12087930A>C	uc002msw.2	+	2	236	c.81A>C	c.(79-81)AAA>AAC	p.K27N	ZNF763_uc010xmf.1_Missense_Mutation_p.K47N|ZNF763_uc002msv.2_Missense_Mutation_p.K30N|ZNF763_uc010xmg.1_Intron	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN	zinc finger protein 763	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12126679	12126679	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12126679T>C	uc002msy.1	-	4	1174	c.1003A>G	c.(1003-1005)AAA>GAA	p.K335E	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K300E	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12129088	12129088	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12129088T>C	uc002msy.1	-	2	203	c.32A>G	c.(31-33)GAT>GGT	p.D11G	uc002msx.1_Intron|ZNF433_uc002msz.1_5'UTR	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12244607	12244607	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12244607A>T	uc002mtf.1	-	4	537	c.394T>A	c.(394-396)TCA>ACA	p.S132T	ZNF20_uc002mte.1_Missense_Mutation_p.S97T|ZNF20_uc002mtg.1_Missense_Mutation_p.S132T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430623	12430623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12430623A>G	uc002mtp.2	-	4	454	c.216T>C	c.(214-216)AGT>AGC	p.S72S	ZNF563_uc002mtq.2_Silent_p.S72S	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502889	12502889	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12502889C>T	uc010dyt.2	-	4	473	c.323G>A	c.(322-324)AGT>AAT	p.S108N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6																		---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12856292	12856292	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12856292C>T	uc002muv.2	+	3	425	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ASNA1_uc002muw.2_Silent_p.S136S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	137					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)													---	---	---	---
RNASEH2A	10535	broad.mit.edu	37	19	12918104	12918104	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12918104T>C	uc002mvg.1	+	3	344	c.284T>C	c.(283-285)GTG>GCG	p.V95A	RNASEH2A_uc002mvf.1_Missense_Mutation_p.V13A	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	95					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12984255	12984255	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12984255G>A	uc002mvm.2	+	25	3509	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1127					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13006890	13006890	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13006890A>G	uc002mvq.2	+	7	667	c.590A>G	c.(589-591)TAC>TGC	p.Y197C	GCDH_uc010xms.1_Missense_Mutation_p.Y164C|GCDH_uc002mvp.2_Missense_Mutation_p.Y197C|GCDH_uc010xmt.1_Missense_Mutation_p.T43A|GCDH_uc010xmu.1_Missense_Mutation_p.Y153C	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	197					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0																		---	---	---	---
CALR	811	broad.mit.edu	37	19	13050442	13050442	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13050442T>C	uc002mvu.2	+	3	474	c.394T>C	c.(394-396)TTT>CTT	p.F132L		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	132	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13226211	13226211	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13226211G>A	uc002mwj.2	-	4	773	c.523C>T	c.(523-525)CCT>TCT	p.P175S	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.P175S|TRMT1_uc002mwl.3_Missense_Mutation_p.P175S|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	175							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)														---	---	---	---
STX10	8677	broad.mit.edu	37	19	13255675	13255675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13255675C>T	uc010xnb.1	-	6	481	c.481G>A	c.(481-483)GAT>AAT	p.D161N	STX10_uc002mwn.2_Missense_Mutation_p.D60N|STX10_uc002mwo.2_Missense_Mutation_p.D60N|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.D62N	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	161	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
STX10	8677	broad.mit.edu	37	19	13256151	13256151	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13256151G>A	uc010xnb.1	-	5	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V	STX10_uc002mwn.2_Missense_Mutation_p.A40V|STX10_uc002mwo.2_Missense_Mutation_p.A40V|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.A42V	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	141	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)															---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13386759	13386759	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13386759C>A	uc010dze.2	-	24	4133	c.3897G>T	c.(3895-3897)CTG>CTT	p.L1299L	CACNA1A_uc010xnd.1_Silent_p.L4L|CACNA1A_uc002mwx.3_Silent_p.L4L|CACNA1A_uc010dzc.2_Silent_p.L824L|CACNA1A_uc002mwy.3_Silent_p.L1298L|CACNA1A_uc010xne.1_Silent_p.L827L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1299	III.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13411357	13411357	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13411357C>A	uc010dze.2	-						CACNA1A_uc010dzc.2_Intron|CACNA1A_uc002mwy.3_Intron|CACNA1A_uc010xne.1_Intron	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14031712	14031712	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14031712G>T	uc002mxo.2	+	14	1917	c.1618G>T	c.(1618-1620)GGG>TGG	p.G540W	CC2D1A_uc002mxp.2_Missense_Mutation_p.G540W|CC2D1A_uc010dzh.2_Missense_Mutation_p.G109W|CC2D1A_uc002mxq.1_Missense_Mutation_p.G185W	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	540					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040261	14040261	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040261T>C	uc002mxo.2	+						CC2D1A_uc002mxp.2_Intron|CC2D1A_uc010dzh.2_Intron	NM_017721	NP_060191			coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14040966	14040966	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14040966G>T	uc002mxo.2	+	27	3085	c.2786G>T	c.(2785-2787)AGG>ATG	p.R929M	CC2D1A_uc002mxp.2_Missense_Mutation_p.R928M|CC2D1A_uc010dzh.2_Missense_Mutation_p.R498M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	929					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14043557	14043557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14043557G>A	uc002mxr.2	-	8	1774	c.1500C>T	c.(1498-1500)TGC>TGT	p.C500C	PODNL1_uc010xni.1_Silent_p.C418C|PODNL1_uc010xnj.1_Silent_p.C498C|PODNL1_uc002mxs.2_Silent_p.C409C	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	500						proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)															---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14067214	14067214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14067214T>C	uc002mxt.2	+	6	670	c.664T>C	c.(664-666)TAC>CAC	p.Y222H		NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	222										central_nervous_system(1)	1																		---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14208462	14208462	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14208462G>A	uc002myc.2	-	7	771	c.571C>T	c.(571-573)CGC>TGC	p.R191C	PRKACA_uc002myb.2_Missense_Mutation_p.R183C|PRKACA_uc010xnm.1_Missense_Mutation_p.R133C|PRKACA_uc002myd.2_Missense_Mutation_p.R133C	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14266323	14266323	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14266323C>T	uc010xnn.1	-	19	3453	c.3157G>A	c.(3157-3159)GCC>ACC	p.A1053T	LPHN1_uc010xno.1_Missense_Mutation_p.A1048T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1053	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14273431	14273431	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14273431G>A	uc010xnn.1	-	6	1493	c.1197C>T	c.(1195-1197)CCC>CCT	p.P399P	LPHN1_uc010xno.1_Silent_p.P394P|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	399	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14288424	14288424	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14288424T>A	uc010xnn.1	-	3	499	c.203A>T	c.(202-204)GAC>GTC	p.D68V	LPHN1_uc010xno.1_Missense_Mutation_p.D68V	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	68	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
CD97	976	broad.mit.edu	37	19	14517536	14517536	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14517536C>T	uc002myl.2	+	16	2196	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	CD97_uc002mym.2_Silent_p.G642G|CD97_uc002myn.2_Silent_p.G598G	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	691	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4																OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14554388	14554388	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14554388G>A	uc002myp.2	+	3	597	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	PKN1_uc002myq.2_Silent_p.Q149Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	143	REM 2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14877148	14877148	+	Missense_Mutation	SNP	G	T	T	rs61732009	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14877148G>T	uc002mzp.1	-	7	989	c.533C>A	c.(532-534)ACC>AAC	p.T178N	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.T178N|EMR2_uc002mzo.1_Missense_Mutation_p.T178N|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	178	EGF-like 4; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224405	15224405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15224405G>A	uc002nah.1	+	8	1870	c.1839G>A	c.(1837-1839)GCG>GCA	p.A613A	SYDE1_uc002nai.1_Silent_p.A546A|SYDE1_uc002naj.1_Silent_p.A270A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	613					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15281259	15281259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15281259C>T	uc002nan.2	-	27	5073	c.4997G>A	c.(4996-4998)CGG>CAG	p.R1666Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1666	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15298066	15298066	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15298066C>T	uc002nan.2	-	11	1766	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NOTCH3_uc002nao.1_Missense_Mutation_p.A564T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	564	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
EPHX3	79852	broad.mit.edu	37	19	15342831	15342831	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15342831G>A	uc002nap.2	-	1	401	c.192C>T	c.(190-192)CCC>CCT	p.P64P	EPHX3_uc002naq.2_Silent_p.P64P	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	64						extracellular region	hydrolase activity				0																		---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15366170	15366170	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15366170G>A	uc002nar.2	-	10	2207	c.1985C>T	c.(1984-1986)TCC>TTC	p.S662F	BRD4_uc002nas.2_Missense_Mutation_p.S662F|BRD4_uc002nat.3_Missense_Mutation_p.S662F	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15375424	15375424	+	Missense_Mutation	SNP	C	T	T	rs139156485	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15375424C>T	uc002nar.2	-	6	1225	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	BRD4_uc002nas.2_Missense_Mutation_p.V335M|BRD4_uc002nat.3_Missense_Mutation_p.V335M|BRD4_uc002nau.3_Missense_Mutation_p.V335M	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	335					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512058	15512058	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15512058C>T	uc002naw.1	-	5	818	c.719G>A	c.(718-720)GGC>GAC	p.G240D	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.G179D|AKAP8L_uc002nay.1_Missense_Mutation_p.G240D|AKAP8L_uc002naz.2_Missense_Mutation_p.G88D	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535436	15535436	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15535436G>C	uc002nbc.2	-	6	2562	c.2539C>G	c.(2539-2541)CAG>GAG	p.Q847E	WIZ_uc002nba.3_Missense_Mutation_p.Q714E|WIZ_uc002nbb.3_Missense_Mutation_p.Q673E	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1530						nucleus	zinc ion binding				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562668	15562668	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562668G>A	uc002nbe.2	-	18	3060	c.2974C>T	c.(2974-2976)CGG>TGG	p.R992W	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.R406W	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	992					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15562916	15562916	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15562916G>T	uc002nbe.2	-	17	2918	c.2832C>A	c.(2830-2832)AGC>AGA	p.S944R	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	944	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15566970	15566970	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15566970C>T	uc002nbe.2	-	11	1752	c.1666G>A	c.(1666-1668)GCC>ACC	p.A556T	RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.A44T	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	556	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15587373	15587373	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15587373C>T	uc002nbf.3	-	2	241	c.108G>A	c.(106-108)GAG>GAA	p.E36E	PGLYRP2_uc002nbg.3_Silent_p.E36E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	36					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852497	15852497	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15852497G>A	uc010xoq.1	+	1	295	c.295G>A	c.(295-297)GCC>ACC	p.A99T		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000299	16000299	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16000299A>G	uc002nbs.1	-	7	902	c.852T>C	c.(850-852)GAT>GAC	p.D284D	CYP4F2_uc010xot.1_Silent_p.D135D|CYP4F2_uc010xou.1_Silent_p.D135D	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	284					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000460	16000460	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16000460G>T	uc002nbs.1	-	7	741	c.691C>A	c.(691-693)CTT>ATT	p.L231I	CYP4F2_uc010xot.1_Missense_Mutation_p.L82I|CYP4F2_uc010xou.1_Missense_Mutation_p.L82I	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	231					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MED26	9441	broad.mit.edu	37	19	16686957	16686957	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16686957C>T	uc002nen.1	-	3	1945	c.1684G>A	c.(1684-1686)GGG>AGG	p.G562R	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	562					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2																		---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16790815	16790815	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16790815C>T	uc002nes.2	+	2	236	c.145C>T	c.(145-147)CGC>TGC	p.R49C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	49	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910714	16910714	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910714A>T	uc002neu.3	+	17	3899	c.3477A>T	c.(3475-3477)GAA>GAT	p.E1159D	NWD1_uc002net.3_Missense_Mutation_p.E1024D|NWD1_uc002nev.3_Missense_Mutation_p.E953D			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1159	WD 8.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910875	16910875	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16910875A>G	uc002neu.3	+	17	4060	c.3638A>G	c.(3637-3639)GAC>GGC	p.D1213G	NWD1_uc002net.3_Missense_Mutation_p.D1078G|NWD1_uc002nev.3_Missense_Mutation_p.D1007G			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1213	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16982177	16982177	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16982177A>G	uc002ney.1	+	15	2670	c.2656A>G	c.(2656-2658)ATG>GTG	p.M886V	SIN3B_uc002nez.1_Missense_Mutation_p.M854V|SIN3B_uc010xpi.1_Missense_Mutation_p.M444V	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	886					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16989146	16989146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16989146T>C	uc002ney.1	+	19	3217	c.3203T>C	c.(3202-3204)ATC>ACC	p.I1068T	SIN3B_uc002nez.1_Missense_Mutation_p.I1036T|SIN3B_uc010xpi.1_Missense_Mutation_p.I626T|SIN3B_uc010eaj.1_Missense_Mutation_p.I4T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1068					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17007077	17007077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17007077G>A	uc002nfb.2	-	41	5509	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.P291L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1779						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17058046	17058046	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17058046G>A	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17088263	17088263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17088263C>T	uc002nfb.2	-	15	1846	c.1814G>A	c.(1813-1815)CGC>CAC	p.R605H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	558						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R605H(1)		ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17111220	17111220	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17111220T>C	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17338819	17338819	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17338819G>A	uc002nfp.2	+							NM_024578	NP_078854			occludin/ELL domain containing 1											central_nervous_system(1)	1																		---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17487970	17487970	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17487970A>G	uc002ngk.1	-	1	178	c.128T>C	c.(127-129)CTC>CCC	p.L43P		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	43	Helical; Signal-anchor for type II membrane protein; (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---
GLT25D1	79709	broad.mit.edu	37	19	17679355	17679355	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17679355G>A	uc002nhc.1	+	5	674	c.662G>A	c.(661-663)CGC>CAC	p.R221H	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	221					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17743650	17743650	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17743650G>T	uc002nhd.2	-	28	3633	c.3633C>A	c.(3631-3633)CTC>CTA	p.L1211L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1123	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17759367	17759367	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17759367C>T	uc002nhd.2	-	16	1953	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	563	Phorbol-ester/DAG-type.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17774358	17774358	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17774358C>T	uc002nhd.2	-	9	806	c.806G>A	c.(805-807)GGC>GAC	p.G269D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17780379	17780379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17845130	17845130	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17845130G>A	uc002nhe.1	+	7	3082	c.3073G>A	c.(3073-3075)GCA>ACA	p.A1025T	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A273T|MAP1S_uc010xpv.1_Missense_Mutation_p.A999T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1025	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1																		---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17943652	17943652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17943652C>T	uc002nhn.3	-	18	2537	c.2437G>A	c.(2437-2439)GAC>AAC	p.D813N	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D813N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	813					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56							2	Mis		acute megakaryocytic leukemia|								---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17988883	17988883	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17988883G>T	uc002nhr.3	+	7	1297	c.950G>T	c.(949-951)CGC>CTC	p.R317L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	317	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18329232	18329232	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18329232T>C	uc010xqc.1	-	10	1622	c.1142A>G	c.(1141-1143)TAC>TGC	p.Y381C	PDE4C_uc002nik.3_Missense_Mutation_p.Y381C|PDE4C_uc002nil.3_Missense_Mutation_p.Y381C|PDE4C_uc002nif.3_Missense_Mutation_p.Y150C|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Missense_Mutation_p.Y151C|PDE4C_uc010ebk.2_Missense_Mutation_p.Y275C|PDE4C_uc002nii.3_Missense_Mutation_p.Y349C|PDE4C_uc010ebl.2_Missense_Mutation_p.Y95C|PDE4C_uc010xqd.1_Missense_Mutation_p.Y150C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	381					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)													---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18546591	18546591	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18546591C>T	uc002njd.1	-	8	1166	c.1116G>A	c.(1114-1116)ACG>ACA	p.T372T	ISYNA1_uc002nja.1_Silent_p.T244T|ISYNA1_uc002njb.1_Silent_p.T290T|ISYNA1_uc002njc.1_Silent_p.T222T|ISYNA1_uc010xqh.1_Silent_p.T170T|ISYNA1_uc002nje.1_Silent_p.T318T|ISYNA1_uc002njf.1_Silent_p.T222T	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	372					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18547813	18547813	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18547813T>G	uc002njd.1	-	4	435	c.385A>C	c.(385-387)ATG>CTG	p.M129L	ISYNA1_uc002nja.1_Missense_Mutation_p.M1L|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Missense_Mutation_p.M75L|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	129					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
CRLF1	9244	broad.mit.edu	37	19	18707568	18707568	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18707568G>T	uc010ebt.1	-	6	1082	c.888C>A	c.(886-888)TGC>TGA	p.C296*		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	296	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1																		---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18876229	18876229	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18876229G>A	uc002nkb.3	+	9	990	c.902G>A	c.(901-903)GGC>GAC	p.G301D	CRTC1_uc010ebv.2_Missense_Mutation_p.G317D|CRTC1_uc010ebw.2_Missense_Mutation_p.G166D|CRTC1_uc002nkc.3_Missense_Mutation_p.G166D	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	301	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519																		---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18965708	18965708	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18965708C>T	uc002nkg.2	+	10	1594	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	UPF1_uc002nkf.2_Missense_Mutation_p.T429M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	440					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	p.T429M(1)		ovary(1)|central_nervous_system(1)	2																		---	---	---	---
GDF1	2657	broad.mit.edu	37	19	18981026	18981026	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18981026C>T	uc002nki.1	-	7						NM_021267	NP_067090			LAG1 homolog, ceramide synthase 1 isoform 1						growth	extracellular space	cytokine activity|growth factor activity				0																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19040120	19040120	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19040120A>G	uc002nku.2	-	9					HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|HOMER3_uc010eby.2_3'UTR|HOMER3_uc010ebz.2_3'UTR|HOMER3_uc002nkw.2_3'UTR|HOMER3_uc002nkv.2_3'UTR	NM_004838	NP_004829			Homer, neuronal immediate early gene, 3 isoform						metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
SFRS14	10147	broad.mit.edu	37	19	19120711	19120711	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19120711T>C	uc002nkx.2	-	5	2437	c.2291A>G	c.(2290-2292)GAC>GGC	p.D764G	SFRS14_uc002nkz.1_Missense_Mutation_p.D778G|SFRS14_uc002nla.1_Missense_Mutation_p.D764G|SFRS14_uc002nlb.2_Missense_Mutation_p.D764G|SFRS14_uc010xqk.1_Missense_Mutation_p.D533G	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	764	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---
RFXANK	8625	broad.mit.edu	37	19	19308333	19308333	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19308333A>G	uc002nls.2	+	6	846	c.341A>G	c.(340-342)GAC>GGC	p.D114G	RFXANK_uc002nlt.2_Missense_Mutation_p.D91G|RFXANK_uc002nlu.2_Missense_Mutation_p.D92G|RFXANK_uc002nlv.2_Missense_Mutation_p.D114G|RFXANK_uc002nlw.2_Missense_Mutation_p.D113G	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	114	ANK 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371751	19371751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371751G>A	uc002nmb.2	-	3	410	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	HAPLN4_uc002nmc.2_Nonsense_Mutation_p.Q119*	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	119	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371882	19371882	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19371882G>A	uc002nmb.2	-	3	279	c.224C>T	c.(223-225)GCC>GTC	p.A75V	HAPLN4_uc002nmc.2_Missense_Mutation_p.A75V	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	75	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)															---	---	---	---
TSSK6	83983	broad.mit.edu	37	19	19626044	19626044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19626044G>A	uc002nmr.2	-	1	426	c.193C>T	c.(193-195)CGG>TGG	p.R65W	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	65	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R65W(1)		stomach(1)	1																		---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655293	19655293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19655293C>T	uc002nmv.3	+	8	2024	c.1939C>T	c.(1939-1941)CTC>TTC	p.L647F	CILP2_uc002nmw.3_Missense_Mutation_p.L653F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	647						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1																		---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19745618	19745618	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19745618T>C	uc002nnd.2	-	17	1987	c.1870A>G	c.(1870-1872)AAG>GAG	p.K624E	GMIP_uc010xrb.1_Missense_Mutation_p.K598E|GMIP_uc010xrc.1_Missense_Mutation_p.K595E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	624	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758026	19758026	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758026T>C	uc002nnh.3	-	22	3045	c.3017A>G	c.(3016-3018)TAC>TGC	p.Y1006C	ATP13A1_uc002nne.2_Missense_Mutation_p.Y146C|ATP13A1_uc002nnf.3_Missense_Mutation_p.Y374C|ATP13A1_uc002nng.2_Missense_Mutation_p.Y888C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1006	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19766929	19766929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19766929C>T	uc002nnh.3	-	8	1175	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.V265I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	383	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6																		---	---	---	---
ZNF506	440515	broad.mit.edu	37	19	19905511	19905511	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19905511T>C	uc010eci.2	-	4	1333	c.1185A>G	c.(1183-1185)AAA>AAG	p.K395K	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.K363K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20003500	20003500	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20003500G>A	uc002noj.2	+	4	1536	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	ZNF253_uc002nok.2_Missense_Mutation_p.V406M|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117228	20117228	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117228T>C	uc002noq.2	-	4	1206	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	ZNF682_uc002noo.2_Silent_p.V329V|ZNF682_uc002nop.2_Silent_p.V329V|ZNF682_uc010eck.2_Silent_p.V285V	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117462	20117462	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117462T>G	uc002noq.2	-	4	972	c.849A>C	c.(847-849)AAA>AAC	p.K283N	ZNF682_uc002noo.2_Missense_Mutation_p.K251N|ZNF682_uc002nop.2_Missense_Mutation_p.K251N|ZNF682_uc010eck.2_Missense_Mutation_p.K207N	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117540	20117540	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117540G>A	uc002noq.2	-	4	894	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	ZNF682_uc002noo.2_Silent_p.Y225Y|ZNF682_uc002nop.2_Silent_p.Y225Y|ZNF682_uc010eck.2_Silent_p.Y181Y	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	257	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131805	21131805	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21131805A>G	uc002npg.3	+	4	612	c.485A>G	c.(484-486)AAC>AGC	p.N162S	ZNF85_uc010ecn.2_Missense_Mutation_p.N97S|ZNF85_uc010eco.2_Missense_Mutation_p.N110S|ZNF85_uc002npi.2_Missense_Mutation_p.N103S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	162	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240721	21240721	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21240721C>G	uc002npj.2	+	5	1717	c.1607C>G	c.(1606-1608)ACT>AGT	p.T536S	ZNF430_uc002npk.2_Missense_Mutation_p.T535S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2																		---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21477270	21477270	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21477270A>T	uc002npq.1	-	4	696	c.498T>A	c.(496-498)AAT>AAA	p.N166K	ZNF708_uc002npr.1_Missense_Mutation_p.N102K|ZNF708_uc010ecs.1_Missense_Mutation_p.N102K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607090	21607090	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607090A>C	uc002npx.2	+	2	1525	c.1245A>C	c.(1243-1245)AAA>AAC	p.K415N	ZNF493_uc002npw.2_Missense_Mutation_p.K543N|ZNF493_uc002npy.2_Missense_Mutation_p.K415N	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607791	21607791	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21607791T>C	uc002npx.2	+	2					ZNF493_uc002npw.2_3'UTR|ZNF493_uc002npy.2_3'UTR	NM_175910	NP_787106			zinc finger protein 493 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720176	21720176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21720176A>G	uc002nqd.1	+	4	1458	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	441	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21909534	21909534	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21909534C>A	uc002nqi.2	-	5	1779	c.1580G>T	c.(1579-1581)AGC>ATC	p.S527I	ZNF100_uc002nqh.2_Missense_Mutation_p.S463I	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910359	21910359	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21910359C>T	uc002nqi.2	-	5	954	c.755G>A	c.(754-756)AGG>AAG	p.R252K	ZNF100_uc002nqh.2_Missense_Mutation_p.R188K	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	252	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991813	21991813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991813G>A	uc002nqj.2	-	4	1156	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	ZNF43_uc010ecv.2_Silent_p.Y336Y|ZNF43_uc002nql.2_Silent_p.Y336Y|ZNF43_uc002nqm.2_Silent_p.Y336Y|ZNF43_uc002nqk.2_Silent_p.Y272Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	342	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22255727	22255727	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22255727G>A	uc010ecx.2	+	2	289	c.120G>A	c.(118-120)CTG>CTA	p.L40L	ZNF257_uc010ecy.2_Silent_p.L8L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364184	22364184	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22364184A>G	uc002nqs.1	-	3	653	c.335T>C	c.(334-336)GTA>GCA	p.V112A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941684	22941684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22941684A>G	uc010xrh.1	-	5	754	c.754T>C	c.(754-756)TGT>CGT	p.C252R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30308410	30308410	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30308410C>T	uc002nsn.2	+	6	607	c.424C>T	c.(424-426)CCA>TCA	p.P142S	CCNE1_uc002nso.2_Missense_Mutation_p.P127S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	142					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30312895	30312895	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30312895T>A	uc002nsn.2	+						CCNE1_uc002nso.2_Intron|CCNE1_uc002nsp.2_5'UTR	NM_001238	NP_001229			cyclin E1 isoform 1						androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---
C19orf2	8725	broad.mit.edu	37	19	30503413	30503413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30503413T>G	uc002nsr.2	+	10	1430	c.1400T>G	c.(1399-1401)CTT>CGT	p.L467R	C19orf2_uc002nsq.2_Missense_Mutation_p.L449R|C19orf2_uc002nss.2_Missense_Mutation_p.L427R|C19orf2_uc002nst.2_Missense_Mutation_p.L391R	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	467					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039501	31039501	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31039501T>C	uc002nsu.1	+	4	3113	c.2975T>C	c.(2974-2976)GTA>GCA	p.V992A	ZNF536_uc010edd.1_Missense_Mutation_p.V992A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769837	31769837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769837G>A	uc002nsy.3	-	2	927	c.862C>T	c.(862-864)CAG>TAG	p.Q288*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	288	C2H2-type 2.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769888	31769888	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769888C>T	uc002nsy.3	-	2	876	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	271					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33117683	33117683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33117683C>T	uc002ntn.1	-	16	1627	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	491	ANK 2.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33585162	33585162	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33585162C>T	uc002nug.1	+	5	854	c.540C>T	c.(538-540)CGC>CGT	p.R180R		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	180	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33602641	33602641	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33602641C>T	uc002nug.1	+	12	1911	c.1597C>T	c.(1597-1599)CGC>TGC	p.R533C	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	533						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33623191	33623191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33623191C>T	uc002nui.2	+	1	194	c.116C>T	c.(115-117)GCG>GTG	p.A39V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	39										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33666372	33666372	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33666372T>C	uc002nui.2	+	11	1391	c.1313T>C	c.(1312-1314)GTG>GCG	p.V438A		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	438										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34180174	34180174	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34180174C>A	uc002nus.3	+	3	512	c.7C>A	c.(7-9)CTG>ATG	p.L3M	CHST8_uc002nut.3_Missense_Mutation_p.L3M|CHST8_uc002nuu.2_Missense_Mutation_p.L3M	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	3	Cytoplasmic (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34292139	34292139	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34292139T>C	uc002nuy.3	+	4	402	c.134T>C	c.(133-135)ATC>ACC	p.I45T	KCTD15_uc002nuv.2_Missense_Mutation_p.I45T|KCTD15_uc002nuw.3_Missense_Mutation_p.I45T|KCTD15_uc010xrt.1_Missense_Mutation_p.I45T|KCTD15_uc002nux.3_Missense_Mutation_p.I45T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KCTD15	79047	broad.mit.edu	37	19	34302406	34302406	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34302406G>A	uc002nuy.3	+	6	910	c.642G>A	c.(640-642)ACG>ACA	p.T214T	KCTD15_uc002nuv.2_Silent_p.T214T|KCTD15_uc002nuw.3_Silent_p.T214T|KCTD15_uc010xrt.1_Silent_p.T214T|KCTD15_uc002nux.3_Silent_p.T214T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34839981	34839981	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34839981G>C	uc002nvd.3	+	12	3607	c.2748G>C	c.(2746-2748)GAG>GAC	p.E916D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	916										ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887230	34887230	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34887230T>C	uc002nvg.1	+	13	1190	c.1087T>C	c.(1087-1089)TAC>CAC	p.Y363H	GPI_uc002nvf.2_Missense_Mutation_p.Y402H|GPI_uc010xrv.1_Missense_Mutation_p.Y374H|GPI_uc010xrw.1_Missense_Mutation_p.Y335H|GPI_uc010edl.1_Missense_Mutation_p.Y363H|GPI_uc002nvi.1_Missense_Mutation_p.Y26H	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	363					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)																	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34929585	34929585	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34929585G>A	uc002nvk.2	+	6	565	c.495G>A	c.(493-495)CCG>CCA	p.P165P	UBA2_uc010xrx.1_Silent_p.P38P|UBA2_uc002nvl.2_Silent_p.P69P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34935965G>A	uc002nvk.2	+	8	780	c.710G>A	c.(709-711)CGT>CAT	p.R237H	UBA2_uc010xrx.1_Missense_Mutation_p.R110H|UBA2_uc002nvl.2_Missense_Mutation_p.R141H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)															---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35512908	35512908	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35512908G>T	uc010xse.1	+	16	1944	c.1807G>T	c.(1807-1809)GGC>TGC	p.G603C	GRAMD1A_uc002nxk.2_Missense_Mutation_p.G596C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G369C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.G608C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G218C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	603						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)															---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556188	35556188	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35556188C>T	uc002nxq.1	+	11	1091	c.846C>T	c.(844-846)GGC>GGT	p.G282G	HPN_uc002nxr.1_Silent_p.G282G|HPN_uc002nxs.1_Silent_p.G124G|HPN_uc010xsh.1_Silent_p.G251G|HPN_uc002nxt.1_Silent_p.G166G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	282	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)													---	---	---	---
FAM187B	148109	broad.mit.edu	37	19	35719391	35719391	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35719391T>C	uc002nyk.1	-	1	238	c.193A>G	c.(193-195)AGC>GGC	p.S65G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65	Extracellular (Potential).					integral to membrane				ovary(2)	2																		---	---	---	---
DMKN	93099	broad.mit.edu	37	19	35990851	35990851	+	Intron	SNP	C	T	T	rs148824329	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35990851C>T	uc002nzm.3	-						DMKN_uc002nzi.3_Intron|DMKN_uc002nzj.2_Intron|DMKN_uc002nzk.3_Intron|DMKN_uc002nzl.3_Intron|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_Intron|DMKN_uc002nzr.2_Intron|DMKN_uc002nzp.2_Intron|DMKN_uc002nzq.2_Intron|DMKN_uc002nzt.2_Intron|DMKN_uc002nzs.2_Intron|DMKN_uc002nzu.2_Intron|DMKN_uc002nzv.2_Intron	NM_033317	NP_201574			dermokine isoform 2 precursor							extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36045887	36045887	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36045887G>A	uc002oal.1	-	16	2447	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	806	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046363	36046363	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36046363G>T	uc002oal.1	-	14	2165	c.2136C>A	c.(2134-2136)ATC>ATA	p.I712I	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	712	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36109909	36109909	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36109909A>G	uc002oam.1	+	13	1188	c.1137A>G	c.(1135-1137)CTA>CTG	p.L379L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	379	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0																		---	---	---	---
UPK1A	11045	broad.mit.edu	37	19	36157788	36157788	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36157788T>A	uc002oaw.2	+	1	74	c.74T>A	c.(73-75)ATC>AAC	p.I25N	UPK1A_uc010eeh.2_Missense_Mutation_p.I25N	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36224532	36224532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36224532C>T	uc010eei.2	+	30	6994	c.6994C>T	c.(6994-6996)CGT>TGT	p.R2332C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2332					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2334C(1)		central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36229256	36229256	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36229256G>A	uc010eei.2	+	38	7946	c.7946G>A	c.(7945-7947)CGC>CAC	p.R2649H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2649	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
TMEM149	79713	broad.mit.edu	37	19	36230664	36230664	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36230664A>G	uc002obc.2	-	4	769	c.668T>C	c.(667-669)CTG>CCG	p.L223P	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.L223P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L303P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	223	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36575648	36575648	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36575648T>C	uc002odc.2	+	12	1733	c.1642_splice	c.e12+2	p.G548_splice	WDR62_uc002odd.2_Splice_Site_p.G548_splice	NM_173636	NP_775907			WD repeat domain 62 isoform 2						cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36593712	36593712	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36593712T>C	uc002odc.2	+	27	3370	c.3279T>C	c.(3277-3279)AGT>AGC	p.S1093S	WDR62_uc002odd.2_Silent_p.S1098S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1093					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
POLR2I	5438	broad.mit.edu	37	19	36604659	36604659	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36604659A>G	uc002ode.2	-	6	824	c.376T>C	c.(376-378)TGA>CGA	p.*126R	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
CAPNS1	826	broad.mit.edu	37	19	36633880	36633880	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36633880G>A	uc002odj.2	+						CAPNS1_uc002odi.1_Intron|CAPNS1_uc002odk.2_Intron|CAPNS1_uc002odl.2_Intron	NM_001749	NP_001740			calpain, small subunit 1						positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
COX7A1	1346	broad.mit.edu	37	19	36642422	36642422	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36642422C>T	uc002odm.1	-	3	591	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_001864	NP_001855	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1	43	Mitochondrial matrix (By similarity).				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884782	36884782	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36884782G>T	uc002ody.1	-	5	695	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36939920	36939920	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36939920A>G	uc002oea.3	-	5	1298	c.1216T>C	c.(1216-1218)TAT>CAT	p.Y406H	ZNF566_uc010xte.1_Missense_Mutation_p.Y406H|ZNF566_uc010xtf.1_Missense_Mutation_p.Y407H|ZNF566_uc002oeb.3_Missense_Mutation_p.Y406H|ZNF566_uc002oec.3_Missense_Mutation_p.Y302H|ZNF566_uc010xtg.1_Missense_Mutation_p.Y302H	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37037873	37037873	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37037873A>G	uc002oeh.3	-	5	1789	c.1587T>C	c.(1585-1587)ACT>ACC	p.T529T	ZNF529_uc010xth.1_Silent_p.T529T|ZNF529_uc010xti.1_Silent_p.T511T|ZNF529_uc002oeg.3_Silent_p.T424T	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37038467	37038467	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37038467A>G	uc002oeh.3	-	5	1195	c.993T>C	c.(991-993)ATT>ATC	p.I331I	ZNF529_uc010xth.1_Silent_p.I331I|ZNF529_uc010xti.1_Silent_p.I313I|ZNF529_uc002oeg.3_Silent_p.I226I	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	298	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)																	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37117166	37117166	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37117166C>A	uc002oek.2	+	5	480	c.367C>A	c.(367-369)CTA>ATA	p.L123I	ZNF382_uc010efa.2_Missense_Mutation_p.L74I|ZNF382_uc010efb.2_Missense_Mutation_p.L122I|ZNF382_uc002oel.2_Missense_Mutation_p.L122I	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	123	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37441575	37441575	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37441575G>A	uc002ofc.2	+	7	2035	c.1520G>A	c.(1519-1521)TGT>TAT	p.C507Y	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C431Y|ZNF568_uc010efe.2_Missense_Mutation_p.C431Y|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	507	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37903927	37903927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37903927T>C	uc002ogi.2	-	6	2191	c.1633A>G	c.(1633-1635)ACA>GCA	p.T545A	ZNF569_uc002ogh.2_Missense_Mutation_p.T386A|ZNF569_uc002ogj.2_Missense_Mutation_p.T569A	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127031	38127031	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127031A>G	uc002ogv.1	-	6	927	c.411T>C	c.(409-411)CCT>CCC	p.P137P	ZFP30_uc002ogw.1_Silent_p.P137P|ZFP30_uc002ogx.1_Silent_p.P137P|ZFP30_uc010xtt.1_Silent_p.P136P	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127206	38127206	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38127206T>A	uc002ogv.1	-	6	752	c.236A>T	c.(235-237)GAT>GTT	p.D79V	ZFP30_uc002ogw.1_Missense_Mutation_p.D79V|ZFP30_uc002ogx.1_Missense_Mutation_p.D79V|ZFP30_uc010xtt.1_Missense_Mutation_p.D78V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190323	38190323	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190323A>G	uc002ohc.1	-	5	1305	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y236H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190374	38190374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190374A>G	uc002ohc.1	-	5	1254	c.658T>C	c.(658-660)TAT>CAT	p.Y220H	ZNF607_uc002ohb.1_Missense_Mutation_p.Y219H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190740	38190740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38190740G>A	uc002ohc.1	-	5	888	c.292C>T	c.(292-294)CAC>TAC	p.H98Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H97Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)															---	---	---	---
GGN	199720	broad.mit.edu	37	19	38877100	38877100	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38877100G>A	uc002oij.1	-	3	937	c.802C>T	c.(802-804)CTG>TTG	p.L268L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.L185L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	268	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38910772	38910772	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38910772G>T	uc002oir.2	-	5	722	c.508C>A	c.(508-510)CTC>ATC	p.L170I	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L170I|RASGRP4_uc010xub.1_Missense_Mutation_p.L170I|RASGRP4_uc010xuc.1_Missense_Mutation_p.L170I|RASGRP4_uc010xud.1_Missense_Mutation_p.L170I|RASGRP4_uc010xue.1_Missense_Mutation_p.L170I|RASGRP4_uc010egb.2_Missense_Mutation_p.L170I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38912707	38912707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38912707C>T	uc002oir.2	-	2	324	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R37Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R37Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R37Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	37					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38986843	38986843	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38986843G>A	uc002oit.2	+						RYR1_uc002oiu.2_Intron|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38990633	38990633	+	Missense_Mutation	SNP	G	A	A	rs121918593		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38990633G>A	uc002oit.2	+	45	7430	c.7300G>A	c.(7300-7302)GGA>AGA	p.G2434R	RYR1_uc002oiu.2_Missense_Mutation_p.G2434R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2434	Cytoplasmic.|6 X approximate repeats.		G -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39028590	39028590	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39028590G>A	uc002oit.2	+	84	11809	c.11679G>A	c.(11677-11679)GGG>GGA	p.G3893G	RYR1_uc002oiu.2_Silent_p.G3888G|RYR1_uc002oiv.1_Silent_p.G802G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39207920	39207920	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39207920G>A	uc002oja.1	+	10	1166	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	ACTN4_uc010egc.1_Silent_p.R369R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	369	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39334720	39334720	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39334720C>T	uc010xul.1	-	5	746	c.735G>A	c.(733-735)CAG>CAA	p.Q245Q	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Silent_p.Q112Q|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	245	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)															---	---	---	---
PAPL	390928	broad.mit.edu	37	19	39597717	39597717	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39597717A>T	uc002oki.2	+	12	1518	c.1244A>T	c.(1243-1245)GAC>GTC	p.D415V	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	415						extracellular region	acid phosphatase activity|metal ion binding				0																		---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39669173	39669173	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39669173C>T	uc002okj.1	+	11	2191	c.1730C>T	c.(1729-1731)CCG>CTG	p.P577L	PAK4_uc002okl.1_Missense_Mutation_p.P577L|PAK4_uc002okn.1_Missense_Mutation_p.P577L|PAK4_uc002okm.1_Missense_Mutation_p.P424L|PAK4_uc002oko.1_Missense_Mutation_p.P424L|PAK4_uc002okp.1_Missense_Mutation_p.P487L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	577					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)															---	---	---	---
IL28B	282617	broad.mit.edu	37	19	39734787	39734787	+	Missense_Mutation	SNP	C	T	T	rs144570763		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
IL28A	282616	broad.mit.edu	37	19	39760407	39760407	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39760407G>A	uc002oku.1	+	5	502	c.450G>A	c.(448-450)AGG>AGA	p.R150R		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	150					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39804819	39804819	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39804819G>A	uc002okw.2	-	1	1158	c.1158C>T	c.(1156-1158)TGC>TGT	p.C386C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	386	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---
PAF1	54623	broad.mit.edu	37	19	39879188	39879188	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39879188C>T	uc002old.2	-						PAF1_uc002ole.1_Intron|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961			Paf1, RNA polymerase II associated factor,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)															---	---	---	---
MED29	55588	broad.mit.edu	37	19	39888188	39888188	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39888188A>C	uc002olf.2	+	4	552	c.515A>C	c.(514-516)CAG>CCG	p.Q172P	MED29_uc010xuw.1_Missense_Mutation_p.S149R|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)													OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39906037	39906037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39906037G>A	uc010xuz.1	+	4	762	c.437G>A	c.(436-438)GGC>GAC	p.G146D	PLEKHG2_uc010xuy.1_Missense_Mutation_p.G87D|PLEKHG2_uc002olj.2_Missense_Mutation_p.G146D|PLEKHG2_uc010xva.1_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	146	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
DLL3	10683	broad.mit.edu	37	19	39995888	39995888	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39995888A>T	uc002olx.2	+	6	948	c.890A>T	c.(889-891)GAA>GTA	p.E297V	DLL3_uc010egq.2_Missense_Mutation_p.E297V|DLL3_uc002olw.2_Missense_Mutation_p.E297V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	297	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
LGALS14	56891	broad.mit.edu	37	19	40197239	40197239	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40197239A>G	uc002omg.2	+	2	241	c.18A>G	c.(16-18)GTA>GTG	p.V6V	LGALS14_uc002omf.2_Silent_p.V35V	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	6	Galectin.			SLPV -> ITPG (in Ref. 1; AAP97241).		nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)															---	---	---	---
CLC	1178	broad.mit.edu	37	19	40225044	40225044	+	Missense_Mutation	SNP	C	T	T	rs140514392	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40225044C>T	uc002omh.2	-	3	258	c.182G>A	c.(181-183)CGT>CAT	p.R61H		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Charcot-Leyden crystal protein	61	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)														---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321416	40321416	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321416G>C	uc002omj.2	-	3	351	c.71C>G	c.(70-72)CCT>CGT	p.P24R	DYRK1B_uc002omi.2_Missense_Mutation_p.P24R|DYRK1B_uc002omk.2_Missense_Mutation_p.P24R|DYRK1B_uc002oml.2_Missense_Mutation_p.P24R	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	24					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321423	40321423	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40321423C>T	uc002omj.2	-	3	344	c.64G>A	c.(64-66)GTA>ATA	p.V22I	DYRK1B_uc002omi.2_Missense_Mutation_p.V22I|DYRK1B_uc002omk.2_Missense_Mutation_p.V22I|DYRK1B_uc002oml.2_Missense_Mutation_p.V22I	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	22					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362933	40362933	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40362933C>T	uc002omp.3	-	32	15145	c.15137G>A	c.(15136-15138)AGC>AAC	p.S5046N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5046	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40364395	40364395	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40364395A>G	uc002omp.3	-	31	14255	c.14247T>C	c.(14245-14247)GGT>GGC	p.G4749G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4749	TIL 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40485987	40485987	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40485987G>A	uc002omq.2	+	8	889	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PSMC4_uc002omr.2_Silent_p.E253E	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40521505	40521505	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40521505C>A	uc002oms.2	+	7	2584	c.2328C>A	c.(2326-2328)CCC>CCA	p.P776P	ZNF546_uc002omt.2_Silent_p.P750P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581085	40581085	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40581085A>G	uc002omy.2	-	6	1489	c.1264T>C	c.(1264-1266)TGT>CGT	p.C422R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C422R|ZNF780A_uc010xvh.1_Missense_Mutation_p.C423R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	422	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40882661	40882661	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40882661A>G	uc002onm.3	+	11	1563	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PLD3_uc002onj.3_Missense_Mutation_p.T389A|PLD3_uc002onk.3_Missense_Mutation_p.T389A|PLD3_uc002onl.3_Missense_Mutation_p.T389A|PLD3_uc002onn.2_Missense_Mutation_p.T389A	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	389	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)															---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41183257	41183257	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41183257T>C	uc002oon.2	-	7	778	c.610A>G	c.(610-612)AAG>GAG	p.K204E	NUMBL_uc010xvq.1_Missense_Mutation_p.K163E|NUMBL_uc002ooo.2_Missense_Mutation_p.K204E|NUMBL_uc010xvr.1_Missense_Mutation_p.K163E	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	204	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)															---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41518216	41518216	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41518216G>A	uc002opr.1	+	7	985	c.978G>A	c.(976-978)AGG>AGA	p.R326R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.R126R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	326					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)													---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594537	41594537	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41594537T>A	uc002opt.2	+	1	170	c.161T>A	c.(160-162)ATG>AAG	p.M54K		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	54					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)													---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41704403	41704403	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41704403C>T	uc002opw.2	+	4	585	c.530C>T	c.(529-531)GCC>GTC	p.A177V	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1																		---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41808566	41808566	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41808566C>A	uc002oqb.3	+						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_Intron|HNRNPUL1_uc010eho.2_Intron|HNRNPUL1_uc010xvy.1_Intron|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.L86I	NM_007040	NP_008971			heterogeneous nuclear ribonucleoprotein U-like 1						nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825542	41825542	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41825542T>A	uc002oqg.2	+	3	688	c.566T>A	c.(565-567)ATC>AAC	p.I189N	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	189											0																		---	---	---	---
TMEM91	641649	broad.mit.edu	37	19	41889623	41889623	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41889623A>G	uc002oqk.3	+	4	715	c.364A>G	c.(364-366)AAC>GAC	p.N122D	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_3'UTR|TMEM91_uc010ehq.2_Intron|TMEM91_uc002oql.2_3'UTR|TMEM91_uc010ehr.2_Intron|TMEM91_uc010ehs.2_Intron|TMEM91_uc010eht.2_Intron|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_3'UTR	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	122					response to biotic stimulus	integral to membrane					0																		---	---	---	---
B3GNT8	374907	broad.mit.edu	37	19	41931597	41931597	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41931597T>C	uc002oqs.2	-	3	1541	c.1087A>G	c.(1087-1089)ACT>GCT	p.T363A	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	363	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41937145	41937145	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41937145T>C	uc010xvw.1	+						B3GNT8_uc002oqs.2_5'Flank					SubName: Full=cDNA FLJ51986, highly similar to Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA;						naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0																		---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42301727	42301727	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42301727C>A	uc002orn.1	+	2	347	c.271C>A	c.(271-273)CCA>ACA	p.P91T	CEACAM3_uc010eia.1_Missense_Mutation_p.P91T|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	91	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1																		---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383300	42383300	+	Missense_Mutation	SNP	G	A	A	rs143511203		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383300G>A	uc002orv.2	+	2	505	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	107	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383344	42383344	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383344T>C	uc002orv.2	+	2	549	c.364T>C	c.(364-366)TAC>CAC	p.Y122H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	122	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42557982G>A	uc002osj.1	-	9	1191	c.1156C>T	c.(1156-1158)CGT>TGT	p.R386C	GRIK5_uc010eib.1_Missense_Mutation_p.R305C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	386	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584439	42584439	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584439A>G	uc002osm.3	+	2	1850	c.1681A>G	c.(1681-1683)ACG>GCG	p.T561A	ZNF574_uc002osk.3_Missense_Mutation_p.T651A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	561	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584644	42584644	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42584644T>A	uc002osm.3	+	2	2055	c.1886T>A	c.(1885-1887)GTC>GAC	p.V629D	ZNF574_uc002osk.3_Missense_Mutation_p.V719D	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	629	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753689	42753689	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42753689C>T	uc002ote.3	-	4	733	c.575G>A	c.(574-576)GGC>GAC	p.G192D	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	192					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)																---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827839	42827839	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42827839T>C	uc002otk.1	+	14	1351	c.1299T>C	c.(1297-1299)GCT>GCC	p.A433A	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	433						integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42861608	42861608	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42861608G>A	uc002otl.3	+	27	5317	c.4682G>A	c.(4681-4683)CGC>CAC	p.R1561H	MEGF8_uc002otm.3_Missense_Mutation_p.R1169H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1628	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42911548	42911548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42911548G>A	uc002otr.2	-	6	2192	c.1915C>T	c.(1915-1917)CAG>TAG	p.Q639*	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	639					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)																---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43015763	43015763	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43015763T>C	uc002otv.2	-	7	1507	c.1394A>G	c.(1393-1395)GAT>GGT	p.D465G	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Missense_Mutation_p.D400G|CEACAM1_uc002oty.2_Missense_Mutation_p.D369G|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Missense_Mutation_p.D191G	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	465	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)													---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43420352	43420352	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43420352A>T	uc002ovj.1	-	2	404	c.352T>A	c.(352-354)TCC>ACC	p.S118T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.S118T|PSG6_uc002ovg.1_Missense_Mutation_p.S118T	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43439553	43439553	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439553C>T	uc002ovh.1	-						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc002ovl.3_Intron|PSG7_uc010xwl.1_Intron					SubName: Full=Putative uncharacterized protein PSG6;						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439623	43439623	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43439623A>G	uc002ovl.3	-	3	465	c.363T>C	c.(361-363)ACT>ACC	p.T121T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	121	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43683057	43683057	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43683057C>T	uc002ovu.2	-						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Intron|PSG5_uc002ovv.2_Missense_Mutation_p.S228N|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772			pregnancy specific beta-1-glycoprotein 5						female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)																---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43968517	43968517	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43968517G>A	uc002owl.1	-	2	279	c.171C>T	c.(169-171)GGC>GGT	p.G57G	LYPD3_uc002owm.2_Silent_p.G57G	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	57	UPAR/Ly6 1.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)																---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44278390	44278390	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44278390G>T	uc002oxl.2	-	3	1033	c.637C>A	c.(637-639)CTT>ATT	p.L213I	KCNN4_uc010eiz.2_Missense_Mutation_p.L126I|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	213	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44339699	44339699	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44339699C>A	uc002oxr.3	+	5	433	c.165C>A	c.(163-165)TCC>TCA	p.S55S	ZNF283_uc002oxp.3_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---
ZNF45	7596	broad.mit.edu	37	19	44418273	44418273	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44418273T>C	uc002oxu.1	-	4	1414	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	ZNF45_uc002oxw.1_Missense_Mutation_p.T439A|ZNF45_uc002oxv.1_Missense_Mutation_p.T439A	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	439					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44564934	44564934	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44564934T>C	uc002oyf.1	+	4	428	c.175T>C	c.(175-177)TTT>CTT	p.F59L	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44738911	44738911	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44738911T>A	uc002oyu.2	+	6	533	c.328T>A	c.(328-330)TCA>ACA	p.S110T	ZNF227_uc010xwu.1_Missense_Mutation_p.S59T|ZNF227_uc002oyv.2_Missense_Mutation_p.S110T|ZNF227_uc010xwv.1_Missense_Mutation_p.S59T|ZNF227_uc010xww.1_Missense_Mutation_p.S31T|ZNF227_uc002oyw.2_Missense_Mutation_p.S82T|ZNF227_uc010ejh.2_Missense_Mutation_p.S103T|ZNF235_uc002oyx.1_RNA	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44740625	44740625	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44740625G>A	uc002oyu.2	+	6	2247	c.2042G>A	c.(2041-2043)GGC>GAC	p.G681D	ZNF227_uc010xwu.1_Missense_Mutation_p.G630D|ZNF227_uc002oyv.2_Missense_Mutation_p.G681D|ZNF227_uc010xwv.1_Missense_Mutation_p.G630D|ZNF227_uc010xww.1_Missense_Mutation_p.G602D|ZNF227_uc002oyw.2_Missense_Mutation_p.G653D|ZNF227_uc010ejh.2_Missense_Mutation_p.G674D|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	681	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44777661	44777661	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44777661A>C	uc002oyz.1	+	5	975	c.848A>C	c.(847-849)GAC>GCC	p.D283A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.D98A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44778453	44778453	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44778453A>G	uc002oyz.1	+	5	1767	c.1640A>G	c.(1639-1641)CAG>CGG	p.Q547R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q362R	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)																---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44890966	44890966	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44890966C>A	uc002ozd.3	-	4	1528	c.1441G>T	c.(1441-1443)GAA>TAA	p.E481*	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.E488*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44892260	44892260	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44892260G>A	uc002ozd.3	-	4	234	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D56D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933132	44933132	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44933132A>G	uc002oze.1	-	6	2258	c.1824T>C	c.(1822-1824)GGT>GGC	p.G608G	ZNF229_uc010ejk.1_Silent_p.G262G|ZNF229_uc010ejl.1_Silent_p.G602G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	608	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45209070	45209070	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45209070A>G	uc010xxd.1	+	5	1078	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	CEACAM16_uc002ozq.2_Missense_Mutation_p.Y350C	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	291										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)																---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381765	45381765	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45381765A>G	uc002ozw.1	+						PVRL2_uc002ozv.2_Missense_Mutation_p.E443G	NM_001042724	NP_001036189			poliovirus receptor related 2 isoform delta						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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45391415	45391415	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45391415C>T	uc002ozw.1	+	9	1786	c.1396C>T	c.(1396-1398)CCC>TCC	p.P466S		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	466	Cytoplasmic (Potential).				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 natural killer cell mediated cytotoxicity|susceptibility to T 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				0	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)														---	---	---	---
APOC2	344	broad.mit.edu	37	19	45452442	45452442	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45452442C>A	uc002pah.2	+	4	345	c.242C>A	c.(241-243)GCC>GAC	p.A81D		NM_000483	NP_000474	P02655	APOC2_HUMAN	apolipoprotein C-II precursor	81					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity			kidney(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)														---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45477800	45477800	+	Silent	SNP	C	T	T	rs150833300	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45477800C>T	uc002pai.2	+	4	429	c.414C>T	c.(412-414)AGC>AGT	p.S138S	CLPTM1_uc010ejv.1_Silent_p.S36S|CLPTM1_uc010xxf.1_Silent_p.S36S|CLPTM1_uc010xxg.1_Silent_p.S124S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	138	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---
RELB	5971	broad.mit.edu	37	19	45540714	45540714	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45540714G>A	uc002paj.1	+	13	1532	c.1406G>A	c.(1405-1407)GGC>GAC	p.G469D	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	469						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)														---	---	---	---
SFRS16	11129	broad.mit.edu	37	19	45573341	45573341	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45573341C>T	uc002pak.2	+	19	2034	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R584C|SFRS16_uc002pam.2_Missense_Mutation_p.R627C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	646	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45656571	45656571	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45656571C>T	uc010xxi.1	-	4	1124	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)														---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45860791	45860791	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45860791C>T	uc002pbj.2	-	14	1365	c.1318G>A	c.(1318-1320)GCC>ACC	p.A440T	ERCC2_uc002pbh.2_Missense_Mutation_p.A3T|ERCC2_uc002pbi.2_Missense_Mutation_p.A133T|ERCC2_uc010ejz.2_Missense_Mutation_p.A362T|ERCC2_uc002pbk.2_Missense_Mutation_p.A416T	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	440	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45873415	45873415	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45873415C>T	uc002pbj.2	-	2	128	c.81G>A	c.(79-81)GAG>GAA	p.E27E	ERCC2_uc010ejz.2_Silent_p.E27E|ERCC2_uc002pbk.2_Silent_p.E3E|ERCC2_uc002pbl.3_Silent_p.E3E|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	27	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45912637	45912637	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45912637C>T	uc002pbq.1	+	3	1899	c.1411C>T	c.(1411-1413)CGG>TGG	p.R471W	CD3EAP_uc002pbr.1_Missense_Mutation_p.R473W	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	471					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)														---	---	---	---
RTN2	6253	broad.mit.edu	37	19	45998181	45998181	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45998181C>A	uc002pcb.2	-	3	390	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	RTN2_uc002pcc.2_Missense_Mutation_p.Q54H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	54						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)														---	---	---	---
GPR4	2828	broad.mit.edu	37	19	46094232	46094232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46094232G>A	uc002pcm.2	-	2	1838	c.893C>T	c.(892-894)GCC>GTC	p.A298V	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	298	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)														---	---	---	---
EML2	24139	broad.mit.edu	37	19	46136131	46136131	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46136131G>A	uc002pcn.2	-	6	533	c.498C>T	c.(496-498)GGC>GGT	p.G166G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G50G|EML2_uc010xxl.1_Silent_p.G313G|EML2_uc010xxm.1_Silent_p.G367G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G166G|EML2_uc010ekj.2_Silent_p.G166G|EML2_uc010ekk.1_5'Flank	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	166	WD 2.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)														---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46191820	46191820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46191820G>T	uc002pcw.2	-	2	304	c.7C>A	c.(7-9)CTC>ATC	p.L3I	SNRPD2_uc002pcv.2_5'UTR	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	3					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)														---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46216103	46216103	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46216103C>T	uc002pcy.2	-	2	776	c.651G>A	c.(649-651)CGG>CGA	p.R217R	FBXO46_uc002pcz.2_Silent_p.R217R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	217							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)														---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46290090	46290090	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46290090G>A	uc002pdj.1	-	3	710	c.664C>T	c.(664-666)CTG>TTG	p.L222L	DMWD_uc002pdk.1_Silent_p.L222L|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	222	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46331121	46331121	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46331121C>T	uc002pdn.2	-	15	2286	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M	SYMPK_uc002pdo.1_Missense_Mutation_p.V681M|SYMPK_uc002pdp.1_Missense_Mutation_p.V681M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	681					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351021	46351021	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46351021T>C	uc002pdn.2	-	7	910	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	SYMPK_uc002pdo.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdp.1_Missense_Mutation_p.Y222C|SYMPK_uc002pdq.1_Missense_Mutation_p.Y222C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	222					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375928	46375928	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46375928G>A	uc002pdr.2	+	2	862	c.665G>A	c.(664-666)GGG>GAG	p.G222E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	222					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)														---	---	---	---
NANOS2	339345	broad.mit.edu	37	19	46417579	46417579	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46417579G>A	uc002pdu.2	-	1	458	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	125					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46807198	46807198	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46807198C>A	uc002peh.2	+	2	99	c.70C>A	c.(70-72)CGC>AGC	p.R24S	HIF3A_uc002pef.1_Missense_Mutation_p.R24S|HIF3A_uc002peg.3_Missense_Mutation_p.R24S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Silent_p.P3P|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Silent_p.P3P|HIF3A_uc002pel.2_Missense_Mutation_p.R22S|HIF3A_uc010xxz.1_Silent_p.P21P	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46832527	46832527	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46832527C>T	uc002peh.2	+	12	1533	c.1504C>T	c.(1504-1506)CTC>TTC	p.L502F	HIF3A_uc002peg.3_Missense_Mutation_p.L502F|HIF3A_uc002pei.3_Missense_Mutation_p.L446F|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.L446F|HIF3A_uc010xxy.1_Missense_Mutation_p.L433F|HIF3A_uc002pel.2_Missense_Mutation_p.L500F|HIF3A_uc010xxz.1_Missense_Mutation_p.L451F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914494	46914494	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46914494G>A	uc002pep.2	-	1	2426	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	525	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)														---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47226079	47226079	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47226079G>A	uc002pfl.2	-	14	1927	c.1894C>T	c.(1894-1896)CGG>TGG	p.R632W	STRN4_uc002pfm.2_Missense_Mutation_p.R639W|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	632						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)														---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47280550	47280550	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47280550C>T	uc002pfs.2	-	6	1791	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T	SLC1A5_uc010xyh.1_Missense_Mutation_p.A189T|SLC1A5_uc002pfq.2_Missense_Mutation_p.A215T|SLC1A5_uc002pfr.2_Missense_Mutation_p.A163T	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	391	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)													---	---	---	---
AP2S1	1175	broad.mit.edu	37	19	47341797	47341797	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47341797C>T	uc002pft.1	-	5	516	c.336G>A	c.(334-336)ACG>ACA	p.T112T	AP2S1_uc002pfu.1_Silent_p.T74T	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	112					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---
GRLF1	2909	broad.mit.edu	37	19	47424547	47424547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47424547C>T	uc010ekv.2	+	1	2615	c.2615C>T	c.(2614-2616)GCC>GTC	p.A872V		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	872					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)														---	---	---	---
BBC3	27113	broad.mit.edu	37	19	47725161	47725161	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47725161C>T	uc002pgf.3	-	4	761	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	BBC3_uc010xyl.1_Missense_Mutation_p.A195T|BBC3_uc010eky.2_Silent_p.Q98Q|BBC3_uc010ekz.2_Missense_Mutation_p.A35T	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3 isoform 4	160					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding				0		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48006736	48006736	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48006736G>A	uc002pha.1	-	2	422	c.122C>T	c.(121-123)GCA>GTA	p.A41V	NAPA_uc002phb.1_Missense_Mutation_p.A41V|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Missense_Mutation_p.A41V|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Missense_Mutation_p.A41V	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	41					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48018088	48018088	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48018088C>T	uc002pha.1	-						NAPA_uc002phb.1_Intron|NAPA_uc002phc.1_Intron|NAPA_uc002phd.1_Intron|NAPA_uc010elf.1_Intron|NAPA_uc010elg.1_Intron|NAPA_uc002phe.2_Intron	NM_003827	NP_003818			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48239750	48239750	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48239750A>G	uc002phj.3	+	5	1290	c.1040A>G	c.(1039-1041)CAC>CGC	p.H347R	EHD2_uc010xyu.1_Missense_Mutation_p.H211R|EHD2_uc010xyv.1_Missense_Mutation_p.H30R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	347					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244520	48244520	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)														---	---	---	---
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48525436C>T	uc002pht.2	+	6	679	c.524C>T	c.(523-525)GCG>GTG	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	175					single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)														---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48624533	48624533	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48624533A>G	uc002pia.1	-	24	2399	c.2279T>C	c.(2278-2280)GTG>GCG	p.V760A	LIG1_uc010xze.1_Missense_Mutation_p.V453A|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V692A|LIG1_uc010xzg.1_Missense_Mutation_p.V729A	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	760					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48626233	48626233	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48626233A>G	uc002pia.1	-	23	2310	c.2190T>C	c.(2188-2190)GAT>GAC	p.D730D	LIG1_uc010xze.1_Silent_p.D423D|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.D662D|LIG1_uc010xzg.1_Silent_p.D699D	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	730					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
SULT2B1	6820	broad.mit.edu	37	19	49100124	49100124	+	Silent	SNP	G	A	A	rs112884737		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49100124G>A	uc002pjl.2	+	6	855	c.774G>A	c.(772-774)ACG>ACA	p.T258T	SULT2B1_uc002pjm.2_Silent_p.T243T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	258					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)														---	---	---	---
IZUMO1	284359	broad.mit.edu	37	19	49247440	49247440	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49247440T>C	uc002pkj.2	-	5	958	c.410A>G	c.(409-411)AAC>AGC	p.N137S	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	137	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)														---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49310321	49310321	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49310321C>T	uc002pkr.2	-	2	72	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.R12Q|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	12						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)													---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49398379	49398379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49398379C>T	uc002pkz.2	-	6	541	c.390G>A	c.(388-390)TGG>TGA	p.W130*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	130					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49478000	49478000	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49478000C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49489102	49489102	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49489102C>T	uc002plp.2	-						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Intron|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron	NM_002103	NP_002094			glycogen synthase 1 (muscle) isoform 1						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)														---	---	---	---
RUVBL2	10856	broad.mit.edu	37	19	49514574	49514574	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49514574C>T	uc002plr.1	+						RUVBL2_uc002plq.1_Intron|RUVBL2_uc002pls.1_Intron|RUVBL2_uc010emn.1_Intron|RUVBL2_uc010yac.1_Intron	NM_006666	NP_006657			RuvB-like 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)														---	---	---	---
CD37	951	broad.mit.edu	37	19	49842077	49842077	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49842077T>A	uc002pnd.2	+	6	689	c.568T>A	c.(568-570)TCC>ACC	p.S190T	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S190T|CD37_uc010yan.1_Missense_Mutation_p.S122T|CD37_uc002pnf.3_Missense_Mutation_p.S162T|CD37_uc002pne.2_Missense_Mutation_p.S122T	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	190	Extracellular (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)														---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49862738	49862738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49862738G>A	uc002pnj.2	-	3	342	c.251C>T	c.(250-252)GCC>GTC	p.A84V	TEAD2_uc002png.2_Missense_Mutation_p.A84V|TEAD2_uc002pnh.2_Missense_Mutation_p.A84V|TEAD2_uc002pni.2_Missense_Mutation_p.A84V|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.A84V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	84	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)														---	---	---	---
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50042431A>T	uc002poj.2	+	5	1121	c.674A>T	c.(673-675)TAC>TTC	p.Y225F		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)														---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098300	50098300	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50098300A>G	uc002poo.3	+	4	708	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	22	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50213650	50213650	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50213650C>A	uc002ppj.2	+	14	1845	c.1640C>A	c.(1639-1641)CCA>CAA	p.P547Q	CPT1C_uc002ppl.3_Missense_Mutation_p.P513Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P464Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P536Q|CPT1C_uc010eng.2_Missense_Mutation_p.P547Q|CPT1C_uc010enh.2_Missense_Mutation_p.P547Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P418Q|CPT1C_uc010eni.1_Missense_Mutation_p.P204Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	547	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50358001	50358001	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50358001G>A	uc002pqf.1	+						PTOV1_uc010ybf.1_Intron|PTOV1_uc002ppz.3_Intron|PTOV1_uc002pqb.3_Intron|PTOV1_uc002pqa.2_Intron|PTOV1_uc002pqc.1_Intron|PTOV1_uc002pqd.2_Intron|PTOV1_uc002pqe.1_Intron	NM_017432	NP_059128			prostate tumor overexpressed 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)														---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50364536	50364536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50364536C>T	uc002pqh.2	-	16	1587	c.1535G>A	c.(1534-1536)GGG>GAG	p.G512E	PNKP_uc002pqg.2_Missense_Mutation_p.G293E|PNKP_uc002pqi.2_Missense_Mutation_p.G473E|PNKP_uc002pqj.2_Missense_Mutation_p.G512E|PNKP_uc010enm.2_Missense_Mutation_p.G481E|PNKP_uc002pqk.2_3'UTR	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	512					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)									Other_BER_factors					---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50747562	50747562	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50747562A>G	uc002prr.1	+	10	1201	c.1154A>G	c.(1153-1155)AAC>AGC	p.N385S	MYH14_uc010enu.1_Missense_Mutation_p.N393S|MYH14_uc002prq.1_Missense_Mutation_p.N393S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	385	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50861982	50861982	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50861982G>T	uc002prx.2	-	9	1144	c.1091C>A	c.(1090-1092)CCT>CAT	p.P364H	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	364					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862307	50862307	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50862307C>T	uc002prx.2	-	8	1049	c.996G>A	c.(994-996)GGG>GGA	p.G332G	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	332					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)														---	---	---	---
NR1H2	7376	broad.mit.edu	37	19	50881803	50881803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50881803G>A	uc010enw.2	+	6	773	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R166Q|NR1H2_uc002psa.3_Missense_Mutation_p.R69Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	166					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)														---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905974	50905974	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50905974G>A	uc002psb.3	+	8	1002	c.946G>A	c.(946-948)GAT>AAT	p.D316N	POLD1_uc002psc.3_Missense_Mutation_p.D316N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.D316N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	316					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50909587	50909587	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50909587C>T	uc002psb.3	+						POLD1_uc002psc.3_Intron|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Intron	NM_002691	NP_002682			DNA-directed DNA polymerase delta 1						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51022237	51022237	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51022237G>A	uc002pss.2	-	3	870	c.733C>T	c.(733-735)CGC>TGC	p.R245C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	245	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51189547	51189547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51189547C>T	uc002psx.1	-	20	2543	c.2524G>A	c.(2524-2526)GGT>AGT	p.G842S	SHANK1_uc002psw.1_Missense_Mutation_p.G226S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	842					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51219729	51219729	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51219729G>A	uc002psx.1	-	2	281	c.262C>T	c.(262-264)CTT>TTT	p.L88F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	88					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51297733	51297733	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51297733C>T	uc002pta.1	+	9	881	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	294	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329891	51329891	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51329891C>T	uc002ptl.2	-	4	635	c.604G>A	c.(604-606)GCA>ACA	p.A202T	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A201T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	202	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)														---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51452276	51452276	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51452276C>A	uc002pue.2	-	5	649	c.431G>T	c.(430-432)GGC>GTC	p.G144V	KLK5_uc002puf.2_Missense_Mutation_p.G144V|KLK5_uc002pug.2_Missense_Mutation_p.G144V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	144	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51465041	51465041	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51465041A>C	uc002pui.2	-	6	801	c.541T>G	c.(541-543)TTG>GTG	p.L181V	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.L190V|KLK6_uc002puj.2_Missense_Mutation_p.L74V|KLK6_uc010ycn.1_Missense_Mutation_p.L74V|KLK6_uc002pul.2_Missense_Mutation_p.L181V|KLK6_uc002pum.2_Missense_Mutation_p.L74V	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	181	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)														---	---	---	---
KLK10	5655	broad.mit.edu	37	19	51518083	51518083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51518083C>T	uc002puy.2	-	6	885	c.804G>A	c.(802-804)TGG>TGA	p.W268*	KLK10_uc002puz.2_Nonsense_Mutation_p.W268*|KLK10_uc002pva.2_Nonsense_Mutation_p.W268*	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	268	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.W268C(1)		lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)														---	---	---	---
CD33	945	broad.mit.edu	37	19	51728581	51728581	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51728581T>C	uc002pwa.2	+	2	185	c.145T>C	c.(145-147)TAC>CAC	p.Y49H	CD33_uc010eos.1_Missense_Mutation_p.Y49H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	49	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)													---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51857744	51857744	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51857744T>A	uc002pwh.2	-						ETFB_uc002pwg.2_Missense_Mutation_p.D50V	NM_001985	NP_001976			electron-transfer-flavoprotein, beta polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)														---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52132322	52132322	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52132322T>C	uc002pxe.2	-	4	847	c.708A>G	c.(706-708)CCA>CCG	p.P236P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	236	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52216730	52216730	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52216730C>T	uc002pxo.1	-	5	1722	c.1687G>A	c.(1687-1689)GTG>ATG	p.V563M	HAS1_uc010epc.1_Missense_Mutation_p.V163M|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.V570M|HAS1_uc002pxp.1_Missense_Mutation_p.V562M	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	563	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52219570	52219570	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52219570A>C	uc002pxo.1	-	4	1035	c.1000T>G	c.(1000-1002)TGT>GGT	p.C334G	HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Missense_Mutation_p.C299G|HAS1_uc002pxn.1_Missense_Mutation_p.C341G|HAS1_uc002pxp.1_Missense_Mutation_p.C333G	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	334	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.C334Y(1)		ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52399760	52399760	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52399760G>A	uc002pxy.2	-	4	471	c.203C>T	c.(202-204)ACA>ATA	p.T68I		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448122	52448122	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448122C>G	uc002pxz.1	+	6	1409	c.986C>G	c.(985-987)TCC>TGC	p.S329C	ZNF613_uc002pya.1_Missense_Mutation_p.S293C	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	329	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448840	52448840	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448840T>C	uc002pxz.1	+	6	2127	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52469030	52469030	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52469030C>T	uc002pyd.2	-	5	904	c.676G>A	c.(676-678)GTA>ATA	p.V226I	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	226	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)														---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496490	52496490	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52496490T>C	uc002pye.1	-	6	2131	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M	ZNF615_uc002pyf.1_Missense_Mutation_p.I624M|ZNF615_uc002pyg.1_Missense_Mutation_p.I505M|ZNF615_uc002pyh.1_Missense_Mutation_p.I624M|ZNF615_uc010epi.1_Missense_Mutation_p.I620M|ZNF615_uc010ydg.1_Missense_Mutation_p.I618M	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	613	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52520093	52520093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52520093T>C	uc002pyj.2	-	5	1160	c.758A>G	c.(757-759)AAT>AGT	p.N253S	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521298	52521298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52521298C>T	uc002pyj.2	-	4	603	c.201G>A	c.(199-201)TGG>TGA	p.W67*	ZNF614_uc002pyi.3_Nonsense_Mutation_p.W67*|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52619658A>T	uc002pym.2	-	4	1042	c.759T>A	c.(757-759)AAT>AAA	p.N253K	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)														---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52658789	52658789	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52658789G>T	uc010ydi.1	-	5	2521	c.2147C>A	c.(2146-2148)CCT>CAT	p.P716H	ZNF836_uc010ydj.1_Missense_Mutation_p.P716H	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716	C2H2-type 18; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659094	52659094	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659094C>T	uc010ydi.1	-	5	2216	c.1842G>A	c.(1840-1842)GTG>GTA	p.V614V	ZNF836_uc010ydj.1_Silent_p.V614V	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	614	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659268	52659268	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659268A>G	uc010ydi.1	-	5	2042	c.1668T>C	c.(1666-1668)TGT>TGC	p.C556C	ZNF836_uc010ydj.1_Silent_p.C556C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF766	90321	broad.mit.edu	37	19	52785388	52785388	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52785388G>A	uc002pyr.1	+	2	86	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF766_uc002pys.1_Missense_Mutation_p.A15T|ZNF766_uc002pyt.1_Missense_Mutation_p.A30T	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)														---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52825414	52825414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52825414G>A	uc010ydl.1	+	5	981	c.911G>A	c.(910-912)CGA>CAA	p.R304Q	ZNF480_uc002pyv.2_Missense_Mutation_p.R227Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R261Q|ZNF480_uc010epn.2_Missense_Mutation_p.R135Q|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)														---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53057596	53057596	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53057596T>C	uc010epq.1	+	5	1604	c.1427T>C	c.(1426-1428)ATT>ACT	p.I476T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)														---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53117122	53117122	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53117122A>C	uc002pzu.3	-	2	1940	c.696T>G	c.(694-696)CCT>CCG	p.P232P	ZNF83_uc002pzv.3_Silent_p.P232P|ZNF83_uc010eps.2_Silent_p.P232P|ZNF83_uc010ept.2_Silent_p.P232P|ZNF83_uc010epu.2_Silent_p.P232P|ZNF83_uc010epv.2_Silent_p.P232P|ZNF83_uc010epw.2_Silent_p.P232P|ZNF83_uc010epx.2_Silent_p.P232P|ZNF83_uc010epy.2_Silent_p.P232P|ZNF83_uc010epz.2_Silent_p.P232P|ZNF83_uc010eqb.1_Silent_p.P232P	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53209608	53209608	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53209608T>G	uc002pzz.2	-	7	1017	c.700A>C	c.(700-702)AAT>CAT	p.N234H	ZNF611_uc010eqc.2_Missense_Mutation_p.N164H|ZNF611_uc010ydo.1_Missense_Mutation_p.N164H|ZNF611_uc010ydr.1_Missense_Mutation_p.N165H|ZNF611_uc010ydp.1_Missense_Mutation_p.N234H|ZNF611_uc010ydq.1_Missense_Mutation_p.N234H|ZNF611_uc002qaa.3_Missense_Mutation_p.N164H	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	234	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53210049	53210049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53210049T>C	uc002pzz.2	-	7	576	c.259A>G	c.(259-261)ACA>GCA	p.T87A	ZNF611_uc010eqc.2_Missense_Mutation_p.T17A|ZNF611_uc010ydo.1_Missense_Mutation_p.T17A|ZNF611_uc010ydr.1_Missense_Mutation_p.T18A|ZNF611_uc010ydp.1_Missense_Mutation_p.T87A|ZNF611_uc010ydq.1_Missense_Mutation_p.T87A|ZNF611_uc002qaa.3_Missense_Mutation_p.T17A	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270810	53270810	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53270810T>A	uc002qab.3	-	3	485	c.199A>T	c.(199-201)ACT>TCT	p.T67S		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)														---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303561	53303561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53303561G>A	uc002qad.2	-	4	1657	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	ZNF28_uc002qac.2_Missense_Mutation_p.H460Y|ZNF28_uc010eqe.2_Missense_Mutation_p.H459Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384506	53384506	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53384506A>T	uc002qag.2	-	4	1064	c.873T>A	c.(871-873)CAT>CAA	p.H291Q	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.H237Q|ZNF320_uc002qai.2_Missense_Mutation_p.H291Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	291	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)														---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572543	53572543	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53572543T>C	uc010eqk.2	-	7	1660	c.1244A>G	c.(1243-1245)CAT>CGT	p.H415R	ZNF160_uc002qaq.3_Missense_Mutation_p.H415R|ZNF160_uc002qar.3_Missense_Mutation_p.H415R	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	415	C2H2-type 6.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)														---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612488	53612488	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53612488T>C	uc002qax.2	-	7	1303	c.954A>G	c.(952-954)AAA>AAG	p.K318K	ZNF415_uc002qat.2_Silent_p.K282K|ZNF415_uc002qaw.2_Silent_p.K270K|ZNF415_uc010yds.1_Silent_p.K270K|ZNF415_uc010ydt.1_Silent_p.K270K|ZNF415_uc002qau.2_Silent_p.K257K|ZNF415_uc002qav.2_Silent_p.K282K|ZNF415_uc002qba.2_Silent_p.K40K|ZNF415_uc002qay.2_Silent_p.K257K|ZNF415_uc002qaz.2_Silent_p.K318K	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)														---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669504	53669504	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53669504C>T	uc010eqm.1	-	4	339	c.239G>A	c.(238-240)AGC>AAC	p.S80N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)														---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54139969	54139969	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54139969G>A	uc002qcf.1	+	3	354	c.303G>A	c.(301-303)CTG>CTA	p.L101L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)														---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401279	54401279	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401279C>T	uc002qcq.1	+	10	1288	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	PRKCG_uc010yef.1_Silent_p.S306S|PRKCG_uc010yeg.1_Missense_Mutation_p.R336C|PRKCG_uc010yeh.1_Missense_Mutation_p.R223C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	336					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)														---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444820	54444820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)														---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54627208	54627208	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54627208G>A	uc002qdh.2	+	7	1004	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PRPF31_uc010yek.1_Missense_Mutation_p.R203H	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	203	Nop.|				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
RPS9	6203	broad.mit.edu	37	19	54710226	54710226	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54710226G>A	uc002qdx.2	+	4	359	c.303G>A	c.(301-303)AAG>AAA	p.K101K	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Silent_p.K101K|RPS9_uc002qea.2_Silent_p.K101K|RPS9_uc002qeb.2_Silent_p.K101K|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Silent_p.K101K	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	101					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)														---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780709	54780709	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780709G>A	uc002qfb.2	-	10	1701	c.1435C>T	c.(1435-1437)CTC>TTC	p.L479F	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L479F|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L478F|LILRB2_uc010yet.1_Missense_Mutation_p.L363F	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54871688	54871688	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54871688A>C	uc002qfk.1	-						LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Intron|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Intron|LAIR1_uc002qfo.2_Intron	NM_002287	NP_002278			leukocyte-associated immunoglobulin-like							integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54966185	54966185	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54966185T>C	uc002qfv.1	+	6	768	c.624T>C	c.(622-624)GTT>GTC	p.V208V	LENG8_uc002qfw.2_Silent_p.V245V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	208							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969365	54969365	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969365T>C	uc002qfv.1	+	13	2019	c.1875T>C	c.(1873-1875)TTT>TTC	p.F625F	LENG8_uc002qfw.2_Silent_p.F662F			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	625							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969555	54969555	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54969555G>A	uc002qfv.1	+	14	2128	c.1984G>A	c.(1984-1986)GCC>ACC	p.A662T	LENG8_uc002qfw.2_Missense_Mutation_p.A699T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	662							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106363	55106363	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55106363A>G	uc002qgh.1	+	4	486	c.304A>G	c.(304-306)AGC>GGC	p.S102G	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S102G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	102	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107772	55107772	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55107772G>A	uc002qgh.1	+	7	1259	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	LILRA2_uc010yfg.1_Silent_p.K357K|LILRA1_uc010yfh.1_Silent_p.K359K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	359	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
KIR2DL1	3802	broad.mit.edu	37	19	55282338	55282338	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55282338T>C	uc002qhb.1	+	2	108	c.70_splice	c.e2+2	p.G24_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.G24_splice	NM_014218	NP_055033			killer cell immunoglobulin-like receptor, two						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396944	55396944	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55396944A>G	uc002qhr.1	+						FCAR_uc002qhq.2_Intron|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55445028	55445028	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55445028G>T	uc002qih.3	-	8	2627	c.2551C>A	c.(2551-2553)CTG>ATG	p.L851M	NLRP7_uc002qig.3_Missense_Mutation_p.L823M|NLRP7_uc002qii.3_Missense_Mutation_p.L851M|NLRP7_uc010esk.2_Missense_Mutation_p.L851M|NLRP7_uc010esl.2_Missense_Mutation_p.L879M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	851	LRR 6.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
GP6	51206	broad.mit.edu	37	19	55525614	55525614	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55525614G>T	uc002qik.2	-	8					GP6_uc002qil.2_Missense_Mutation_p.L567I|GP6_uc010esq.2_3'UTR	NM_016363	NP_057447			glycoprotein VI (platelet) isoform 2						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597335	55597335	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55597335A>G	uc002qis.3	+	15	1616	c.1512A>G	c.(1510-1512)GTA>GTG	p.V504V	EPS8L1_uc010ess.1_Silent_p.V518V|EPS8L1_uc010yfr.1_Silent_p.V440V|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.V377V|EPS8L1_uc002qiv.2_Silent_p.V182V|EPS8L1_uc002qiw.2_Silent_p.V283V	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	504	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)														---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55644293	55644293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55644293C>T	uc002qjb.3	-	14	916	c.827G>A	c.(826-828)CGC>CAC	p.R276H	TNNT1_uc002qiz.3_Missense_Mutation_p.R190H|TNNT1_uc002qja.3_Missense_Mutation_p.R190H|TNNT1_uc002qjc.3_Missense_Mutation_p.R260H|TNNT1_uc002qje.3_Missense_Mutation_p.R249H|TNNT1_uc002qjd.3_Missense_Mutation_p.R249H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	276					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)														---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089958	56089958	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56089958C>T	uc002qlh.2	-	2	1101	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56166521	56166521	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56166521T>C	uc002qlu.2	+	1	1104	c.49_splice	c.e1+2	p.E17_splice	U2AF2_uc002qlt.2_Splice_Site_p.E17_splice	NM_007279	NP_009210			U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56203213	56203213	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56203213G>A	uc002qlw.2	+	7	1198	c.856G>A	c.(856-858)GTC>ATC	p.V286I	EPN1_uc002qlv.2_Missense_Mutation_p.V261I|EPN1_uc010etd.2_Missense_Mutation_p.V286I|EPN1_uc002qlx.2_Missense_Mutation_p.V372I	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	286	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)														---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243849	56243849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243849C>A	uc002qly.2	-	2	1376	c.1348G>T	c.(1348-1350)GAG>TAG	p.E450*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	450	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56300170	56300170	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56300170T>C	uc010ygf.1	-						NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron	NM_145007	NP_659444			NLR family, pyrin domain containing 11								ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369592	56369592	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369592C>T	uc002qmd.3	+	3	1255	c.833C>T	c.(832-834)GCT>GTT	p.A278V	NLRP4_uc002qmf.2_Missense_Mutation_p.A203V|NLRP4_uc010etf.2_Missense_Mutation_p.A109V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	278	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369735	56369735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369735A>G	uc002qmd.3	+	3	1398	c.976A>G	c.(976-978)AAT>GAT	p.N326D	NLRP4_uc002qmf.2_Missense_Mutation_p.N251D|NLRP4_uc010etf.2_Missense_Mutation_p.N157D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	326	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370579	56370579	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56370579A>G	uc002qmd.3	+	3	2242	c.1820A>G	c.(1819-1821)CAA>CGA	p.Q607R	NLRP4_uc002qmf.2_Missense_Mutation_p.Q532R|NLRP4_uc010etf.2_Missense_Mutation_p.Q438R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	607							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423337	56423337	+	Missense_Mutation	SNP	A	C	C	rs143168899		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423337A>C	uc010ygg.1	-	5	1871	c.1846T>G	c.(1846-1848)TTA>GTA	p.L616V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	616							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424639	56424639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424639C>T	uc010ygg.1	-	5	569	c.544G>A	c.(544-546)GAG>AAG	p.E182K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	182							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424657	56424657	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424657G>T	uc010ygg.1	-	5	551	c.526C>A	c.(526-528)CAC>AAC	p.H176N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	176							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443673	56443673	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443673T>C	uc010ygg.1	-	1	30	c.5A>G	c.(4-6)AAC>AGC	p.N2S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	2	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56467067	56467067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56467067G>A	uc002qmh.2	+	3	1714	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	NLRP8_uc010etg.2_Missense_Mutation_p.S548N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	548						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56515301	56515301	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56515301C>T	uc002qmj.2	+	2	282	c.282C>T	c.(280-282)TGC>TGT	p.C94C	NLRP5_uc002qmi.2_Silent_p.C94C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	94	DAPIN.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539246	56539246	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56539246C>T	uc002qmj.2	+	7	1647	c.1647C>T	c.(1645-1647)GAC>GAT	p.D549D	NLRP5_uc002qmi.2_Silent_p.D530D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	549	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56565026	56565026	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701494	56701494	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701494T>G	uc010ygh.1	-	4	1190	c.1190A>C	c.(1189-1191)GAC>GCC	p.D397A		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	397	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56702324	56702324	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56702324G>A	uc010ygh.1	-	3	621	c.621C>T	c.(619-621)GAC>GAT	p.D207D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952773	56952773	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56952773T>C	uc002qnd.2	-	5	1753	c.1591A>G	c.(1591-1593)ACA>GCA	p.T531A	ZNF667_uc010etl.2_Missense_Mutation_p.T313A|ZNF667_uc002qne.2_Missense_Mutation_p.T531A|ZNF667_uc010etm.2_Missense_Mutation_p.T474A	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	531	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57036632	57036632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57036632G>A	uc002qnh.2	+	5	1329	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089759	57089759	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57089759T>C	uc002qnl.3	+	6	2638	c.1962T>C	c.(1960-1962)TGT>TGC	p.C654C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	654	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)														---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133693	57133693	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57133693C>T	uc002qnm.3	+	3	1276	c.1038C>T	c.(1036-1038)CGC>CGT	p.R346R		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	346	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)														---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175250C>T	uc010ygo.1	-	2	1383	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZNF835_uc010ygn.1_Silent_p.T439T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176405	57176405	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57176405G>A	uc010ygo.1	-	2	228	c.228C>T	c.(226-228)CGC>CGT	p.R76R	ZNF835_uc010ygn.1_Silent_p.R54R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327048	57327048	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57327048T>G	uc002qnu.2	-	7	3113	c.2762A>C	c.(2761-2763)GAA>GCA	p.E921A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E892A|PEG3_uc002qnv.2_Missense_Mutation_p.E921A|PEG3_uc002qnw.2_Missense_Mutation_p.E797A|PEG3_uc002qnx.2_Missense_Mutation_p.E795A|PEG3_uc010etr.2_Missense_Mutation_p.E921A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	921					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328459	57328459	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57328459G>A	uc002qnu.2	-	7	1702	c.1351C>T	c.(1351-1353)CCA>TCA	p.P451S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P422S|PEG3_uc002qnv.2_Missense_Mutation_p.P451S|PEG3_uc002qnw.2_Missense_Mutation_p.P327S|PEG3_uc002qnx.2_Missense_Mutation_p.P325S|PEG3_uc010etr.2_Missense_Mutation_p.P451S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	451					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641113	57641113	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57641113T>C	uc002qny.2	+	4	1426	c.1070T>C	c.(1069-1071)GTC>GCC	p.V357A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57647393	57647393	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57647393G>A	uc002qnz.1	-	5	698	c.312C>T	c.(310-312)GTC>GTT	p.V104V		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57724326	57724326	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57724326A>G	uc002qob.2	+	4	2274	c.1861A>G	c.(1861-1863)ACC>GCC	p.T621A		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)														---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57839292	57839292	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57839292T>C	uc002qoi.1	+	4	807	c.462T>C	c.(460-462)CGT>CGC	p.R154R		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967256	57967256	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57967256C>A	uc002qos.1	-	1	599	c.599G>T	c.(598-600)AGT>ATT	p.S200I	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	200	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)														---	---	---	---
ZNF772	400720	broad.mit.edu	37	19	57984675	57984675	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57984675G>A	uc002qot.2	-	5	1698	c.1437C>T	c.(1435-1437)CGC>CGT	p.R479R	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.R438R|ZNF772_uc010ygz.1_Silent_p.R367R|ZNF772_uc010yha.1_Silent_p.R425R|ZNF772_uc002qou.2_Silent_p.R367R	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)														---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58049755	58049755	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58049755G>A	uc002qpb.1	+	4	1632	c.1383G>A	c.(1381-1383)ATG>ATA	p.M461I	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.M448I	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	461	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58196633	58196633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58196633A>G	uc002qpw.3	+	2	260	c.37A>G	c.(37-39)ATG>GTG	p.M13V	ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58264668	58264668	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58264668A>C	uc002qpx.2	+	3	393	c.170A>C	c.(169-171)TAT>TCT	p.Y57S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Y57S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)														---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58290443	58290443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58290443C>A	uc002qqd.2	+	3	674	c.488C>A	c.(487-489)TCT>TAT	p.S163Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.L121I|ZNF586_uc010euh.2_Missense_Mutation_p.S120Y|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	163	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319610	58319610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58319610A>T	uc002qqg.2	-	3	1192	c.1022T>A	c.(1021-1023)GTT>GAT	p.V341D	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.V337D	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	341	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420088	58420088	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420088A>G	uc002qqq.2	-	3	1757	c.1558T>C	c.(1558-1560)TAT>CAT	p.Y520H	ZNF417_uc010yhm.1_Missense_Mutation_p.Y477H|ZNF417_uc002qqr.2_Missense_Mutation_p.Y519H	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	520	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58437734	58437734	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58437734C>T	uc002qqs.1	-	4	2107	c.1815G>A	c.(1813-1815)GCG>GCA	p.A605A	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.A520A	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	605	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58438155	58438155	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58438155C>T	uc002qqs.1	-	4	1686	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G380D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	465	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)														---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453338	58453338	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58453338A>T	uc002qqu.2	-	3	1073	c.838T>A	c.(838-840)TCT>ACT	p.S280T	ZNF256_uc010euj.2_Missense_Mutation_p.S127T	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	280	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)														---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58490577	58490577	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58490577T>C	uc002qqw.2	-	7	2089	c.1471A>G	c.(1471-1473)AAA>GAA	p.K491E	ZNF606_uc010yhp.1_Missense_Mutation_p.K401E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	491	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578557	58578557	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58578557G>A	uc010yhq.1	+	5	837	c.741G>A	c.(739-741)ACG>ACA	p.T247T	ZNF135_uc002qre.2_Silent_p.T235T|ZNF135_uc002qrd.1_Silent_p.T193T|ZNF135_uc002qrf.2_Silent_p.T193T|ZNF135_uc002qrg.2_Silent_p.T205T|ZNF135_uc010yhr.1_Silent_p.T56T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	247					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579384	58579384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58579384A>G	uc010yhq.1	+	5	1664	c.1568A>G	c.(1567-1569)AAA>AGA	p.K523R	ZNF135_uc002qre.2_Missense_Mutation_p.K511R|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.K469R|ZNF135_uc002qrg.2_Missense_Mutation_p.K481R|ZNF135_uc010yhr.1_Missense_Mutation_p.K332R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	523					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601478	58601478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58601478G>A	uc002qri.2	-	2	466	c.157C>T	c.(157-159)CGG>TGG	p.R53W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53W	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58640601	58640601	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58640601A>C	uc002qrn.2	-	4	507	c.270T>G	c.(268-270)GGT>GGG	p.G90G	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)														---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58773443	58773443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58773443C>A	uc010euo.2	+	7	1945	c.1471C>A	c.(1471-1473)CCC>ACC	p.P491T	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.P463T|ZNF544_uc010yhy.1_Missense_Mutation_p.P463T|ZNF544_uc002qrt.3_Missense_Mutation_p.P349T|ZNF544_uc002qru.3_Missense_Mutation_p.P349T|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58805954	58805954	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58805954T>C	uc002qry.1	+	4	910	c.780T>C	c.(778-780)ACT>ACC	p.T260T	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	260	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806852	58806852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58806852G>T	uc002qry.1	+	4	1808	c.1678G>T	c.(1678-1680)GAG>TAG	p.E560*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58906110	58906110	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58906110A>G	uc002qsn.2	+	6	680	c.608A>G	c.(607-609)AAC>AGC	p.N203S	RPS5_uc002qso.2_Missense_Mutation_p.N203S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	203					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)														---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58928251	58928251	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58928251G>T	uc002qsp.2	+	4	818	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q77H|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)														---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58946066	58946066	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58946066A>G	uc002qst.3	-	3	1146	c.745T>C	c.(745-747)TCC>CCC	p.S249P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	249	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)														---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58982486	58982486	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58982486C>T	uc002qsw.1	+	4	721	c.627C>T	c.(625-627)AGC>AGT	p.S209S	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58988885	58988885	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58988885A>G	uc002qsz.2	+	2	417	c.300A>G	c.(298-300)CTA>CTG	p.L100L	ZNF446_uc002qta.2_Silent_p.L100L|ZNF446_uc010eur.2_Silent_p.L100L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061206	59061206	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59061206G>T	uc002qtg.1	+	14	2374	c.2085G>T	c.(2083-2085)AAG>AAT	p.K695N	TRIM28_uc010eut.1_Missense_Mutation_p.K613N|TRIM28_uc002qth.1_Missense_Mutation_p.K310N	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	695					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)														---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	372148	372148	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:372148T>C	uc002wdm.2	+	3	1015	c.509T>C	c.(508-510)CTG>CCG	p.L170P	TRIB3_uc002wdn.2_Missense_Mutation_p.L197P	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	170	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)														---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	472932	472932	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:472932T>C	uc002wdw.1	-	9	980	c.587A>G	c.(586-588)TAC>TGC	p.Y196C	CSNK2A1_uc002wdx.1_Missense_Mutation_p.Y196C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.Y60C	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	196	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)															---	---	---	---
C20orf46	55321	broad.mit.edu	37	20	1161600	1161600	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1161600G>A	uc010gaa.1	-	3	882	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C20orf46_uc002weq.1_Silent_p.G221G	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	221						integral to membrane	protein binding			ovary(1)	1																		---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281356	1281356	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1281356G>A	uc002wes.2	+	5	544	c.308_splice	c.e5+1	p.R103_splice	SNPH_uc002wet.2_Splice_Site_p.R147_splice	NM_014723	NP_055538			syntaphilin						synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902223	1902223	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1902223T>A	uc002wfq.2	+	4	979	c.619T>A	c.(619-621)TAC>AAC	p.Y207N	SIRPA_uc010zps.1_Missense_Mutation_p.Y187N|SIRPA_uc002wfr.2_Missense_Mutation_p.Y207N|SIRPA_uc002wfs.2_Missense_Mutation_p.Y207N|SIRPA_uc002wft.2_Missense_Mutation_p.Y207N	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	207	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918072	1918072	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918072C>G	uc002wfq.2	+	9	1733	c.1373C>G	c.(1372-1374)ACC>AGC	p.T458S	SIRPA_uc010zps.1_Missense_Mutation_p.T438S|SIRPA_uc002wfr.2_Missense_Mutation_p.T458S|SIRPA_uc002wfs.2_Missense_Mutation_p.T458S|SIRPA_uc002wft.2_Missense_Mutation_p.T462S	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	458	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1918165	1918165	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1918165C>T	uc002wfq.2	+	9	1826	c.1466C>T	c.(1465-1467)CCT>CTT	p.P489L	SIRPA_uc010zps.1_Missense_Mutation_p.P469L|SIRPA_uc002wfr.2_Missense_Mutation_p.P489L|SIRPA_uc002wfs.2_Missense_Mutation_p.P489L|SIRPA_uc002wft.2_Missense_Mutation_p.P493L	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	489	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---
STK35	140901	broad.mit.edu	37	20	2097903	2097903	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2097903G>A	uc010gak.2	+	3	1484	c.1484G>A	c.(1483-1485)AGG>AAG	p.R495K	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R362K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	495	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2291695	2291695	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2291695G>A	uc002wfx.3	+	4	557	c.460G>A	c.(460-462)GAG>AAG	p.E154K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	154					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)													---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2411625	2411625	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2411625C>T	uc002wfy.1	+	12	1980	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)													---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2446470	2446470	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2446470A>G	uc002wfz.1	-						SNRPB_uc002wga.1_Intron|SNRPB_uc010zpv.1_Intron|SNRPB_uc002wgb.2_Intron|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859			small nuclear ribonucleoprotein polypeptide B/B'						histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2636755	2636755	+	Intron	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2636755G>T	uc002wgh.2	+						NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD86_uc010gaq.1_RNA|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2637611	2637611	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2637611A>T	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD57_uc002wgo.1_RNA	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774916	2774916	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2774916G>A	uc002wgu.2	-	14	2189	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	CPXM1_uc010gas.2_Missense_Mutation_p.R635C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	709					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
FAM113A	64773	broad.mit.edu	37	20	2819100	2819100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2819100G>A	uc002wgz.1	-	6	1116	c.619C>T	c.(619-621)CGG>TGG	p.R207W	FAM113A_uc002whb.1_Missense_Mutation_p.R58W|FAM113A_uc002wha.1_Missense_Mutation_p.R58W|FAM113A_uc010zqa.1_Missense_Mutation_p.R54W|FAM113A_uc002whc.1_Missense_Mutation_p.R156W|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	207							hydrolase activity|protein binding			ovary(2)	2																		---	---	---	---
PTPRA	5786	broad.mit.edu	37	20	2968692	2968692	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2968692A>G	uc010zqb.1	+	6					PTPRA_uc002whj.2_Missense_Mutation_p.K181R|PTPRA_uc010zqc.1_Missense_Mutation_p.K66R|PTPRA_uc002whk.2_Missense_Mutation_p.K172R|PTPRA_uc010zqd.1_Missense_Mutation_p.K192R|PTPRA_uc002whl.2_Missense_Mutation_p.K172R|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.K172R|PTPRA_uc002who.2_5'UTR					SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3127942	3127942	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3127942A>G	uc002whz.2	-	2	2086	c.1775T>C	c.(1774-1776)GTC>GCC	p.V592A	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	592					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0																		---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3262381	3262381	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3262381G>A	uc002wii.2	-	28	2569	c.2518C>T	c.(2518-2520)CTG>TTG	p.L840L	C20orf194_uc002wij.3_Silent_p.L579L|C20orf194_uc002wik.2_Silent_p.L514L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	840											0																		---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3672089	3672089	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3672089C>T	uc002wja.2	-	17	4489	c.4489G>A	c.(4489-4491)GCC>ACC	p.A1497T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A136T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1497T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1497	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3888740	3888740	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3888740G>A	uc002wkc.2	+	2	802	c.796G>A	c.(796-798)GTG>ATG	p.V266M	PANK2_uc002wkb.2_Translation_Start_Site|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Translation_Start_Site|PANK2_uc002wkf.2_Translation_Start_Site	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	266					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3899434	3899434	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3899434G>A	uc002wkc.2	+	6	1659	c.1653G>A	c.(1651-1653)TCG>TCA	p.S551S	PANK2_uc002wkb.2_Silent_p.S260S|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.S260S|PANK2_uc002wkf.2_Silent_p.S115S|MIR103-2AS_hsa-mir-103-2-as|MI0007262_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	551					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680403	4680403	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680403C>T	uc002wku.2	+	2	900	c.537C>T	c.(535-537)TGC>TGT	p.C179C	PRNP_uc002wkv.2_Silent_p.C179C|PRNP_uc002wkw.2_Silent_p.C179C|PRNP_uc002wkx.2_Silent_p.C179C|PRNP_uc002wkt.1_Silent_p.C149C|PRNP_uc002wky.2_Silent_p.C179C|PRNP_uc010gbe.1_Silent_p.C179C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	179	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680596	4680596	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680596A>T	uc002wku.2	+	2	1093	c.730A>T	c.(730-732)ATC>TTC	p.I244F	PRNP_uc002wkv.2_Missense_Mutation_p.I244F|PRNP_uc002wkw.2_Missense_Mutation_p.I244F|PRNP_uc002wkx.2_Missense_Mutation_p.I244F|PRNP_uc002wkt.1_Missense_Mutation_p.I214F|PRNP_uc002wky.2_Missense_Mutation_p.I244F|PRNP_uc010gbe.1_Intron	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	244					axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
PRND	23627	broad.mit.edu	37	20	4705292	4705292	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4705292G>T	uc002wkz.2	+	2	166	c.95G>T	c.(94-96)AGA>ATA	p.R32I		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	32	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0																		---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4854619	4854619	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4854619C>T	uc002wlg.1	-	11	1440	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	SLC23A2_uc010zqr.1_Silent_p.V240V|SLC23A2_uc002wlh.1_Silent_p.V355V|SLC23A2_uc002wli.2_Silent_p.V354V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	355					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5933145	5933145	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5933145A>G	uc002wmi.2	+	3	601	c.224A>G	c.(223-225)TAT>TGT	p.Y75C	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.Y75C|MCM8_uc002wmk.2_Missense_Mutation_p.Y75C|MCM8_uc002wml.2_Missense_Mutation_p.Y75C|MCM8_uc010gbp.2_Missense_Mutation_p.Y75C	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5948575	5948575	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5948575G>T	uc002wmi.2	+	10	1504	c.1127G>T	c.(1126-1128)GGG>GTG	p.G376V	MCM8_uc002wmj.2_Missense_Mutation_p.G360V|MCM8_uc002wmk.2_Missense_Mutation_p.G376V|MCM8_uc002wml.2_Missense_Mutation_p.G376V|MCM8_uc010gbp.2_Missense_Mutation_p.G376V|MCM8_uc002wmm.2_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	376					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866431	7866431	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7866431A>G	uc002wmw.1	-	6	918	c.894T>C	c.(892-894)ACT>ACC	p.T298T	HAO1_uc010gbu.2_Silent_p.T298T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	298	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8703028	8703028	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8703028A>G	uc002wnb.2	+	15	1544	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	PLCB1_uc010zrb.1_Missense_Mutation_p.D413G|PLCB1_uc002wna.2_Missense_Mutation_p.D514G|PLCB1_uc002wnc.1_Missense_Mutation_p.D413G|PLCB1_uc002wnd.1_Missense_Mutation_p.D91G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	514					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546626	9546626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)															---	---	---	---
ANKRD5	63926	broad.mit.edu	37	20	10019012	10019012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10019012G>A	uc002wno.2	+	3	456	c.63G>A	c.(61-63)CGG>CGA	p.R21R	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.R21R|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	21							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393240	10393240	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393240T>C	uc002wnt.1	-	3	1810	c.923A>G	c.(922-924)CAT>CGT	p.H308R	MKKS_uc002wnu.1_Missense_Mutation_p.H308R|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	308	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393443	10393443	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10393443C>A	uc002wnt.1	-	3	1607	c.720G>T	c.(718-720)AAG>AAT	p.K240N	MKKS_uc002wnu.1_Missense_Mutation_p.K240N|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	240	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
C20orf94	128710	broad.mit.edu	37	20	10541418	10541418	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10541418A>G	uc010zre.1	+	4	368	c.188A>G	c.(187-189)CAC>CGC	p.H63R		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	63							protein binding				0																		---	---	---	---
JAG1	182	broad.mit.edu	37	20	10621534	10621534	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10621534A>G	uc002wnw.2	-	25	3612	c.3096T>C	c.(3094-3096)ACT>ACC	p.T1032T		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1032	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9														Alagille_Syndrome				---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13098372	13098372	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13098372G>A	uc002wod.1	+	8	1441	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260305	13260305	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13260305C>A	uc010gce.1	+	3	409	c.403C>A	c.(403-405)CCT>ACT	p.P135T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	135						extracellular region					0																		---	---	---	---
C20orf7	79133	broad.mit.edu	37	20	13769302	13769302	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13769302T>C	uc002wom.2	+						C20orf7_uc002wol.1_Intron|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_Intron	NM_024120	NP_077025			hypothetical protein LOC79133 isoform 1						mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)																---	---	---	---
OTOR	56914	broad.mit.edu	37	20	16729574	16729574	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16729574G>A	uc002wpj.2	+	2	222	c.178G>A	c.(178-180)GTT>ATT	p.V60I	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	60	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17930823	17930823	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17930823T>C	uc002wqc.2	-	8	830	c.744A>G	c.(742-744)GCA>GCG	p.A248A	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.A248A|SNX5_uc002wqe.2_Silent_p.A143A|SNX5_uc010zrt.1_Silent_p.A248A	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---
C20orf72	92667	broad.mit.edu	37	20	17970645	17970645	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17970645G>A	uc002wqh.2	+	5	1010	c.928G>A	c.(928-930)GAT>AAT	p.D310N	C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	310											0																		---	---	---	---
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18005394C>T	uc002wqi.1	-	4	957	c.714G>A	c.(712-714)CCG>CCA	p.P238P		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18163876	18163876	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18163876T>C	uc002wqj.2	+	9	2540	c.1918T>C	c.(1918-1920)TAC>CAC	p.Y640H	CSRP2BP_uc002wqk.2_Missense_Mutation_p.Y512H|CSRP2BP_uc010zru.1_Missense_Mutation_p.Y511H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	640	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18523773	18523773	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18523773G>T	uc002wqz.1	+	14	2065	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V	SEC23B_uc002wra.1_Missense_Mutation_p.G541V|SEC23B_uc002wrb.1_Missense_Mutation_p.G541V|SEC23B_uc010zsb.1_Missense_Mutation_p.G523V|SEC23B_uc002wrc.1_Missense_Mutation_p.G541V	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	541					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19956264	19956264	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19956264T>C	uc002wro.1	+	7	1631	c.1595T>C	c.(1594-1596)TTA>TCA	p.L532S	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.L326S	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	532					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19981487	19981487	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19981487G>A	uc002wro.1	+	11	2631	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	RIN2_uc010gcu.1_Silent_p.Q432Q|RIN2_uc010gcv.1_Silent_p.Q659Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	865	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20020360	20020360	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20020360T>C	uc002wrs.2	-	12	1953	c.1921A>G	c.(1921-1923)ACC>GCC	p.T641A		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	641	HAT 12.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20029028	20029028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20029028C>T	uc002wrs.2	-	5	929	c.897G>A	c.(895-897)TGG>TGA	p.W299*	CRNKL1_uc002wrt.1_Nonsense_Mutation_p.W287*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	299	HAT 3.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20258096	20258096	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20258096G>T	uc002wru.2	+	22	2866	c.2790G>T	c.(2788-2790)CAG>CAT	p.Q930H	C20orf26_uc010zse.1_Missense_Mutation_p.Q910H|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	930										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20392719	20392719	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20392719C>T	uc002wrz.2	-	38	5712	c.5569G>A	c.(5569-5571)GCA>ACA	p.A1857T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1561T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1305T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1857					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20493484	20493484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20493484G>A	uc002wrz.2	-	32	4672	c.4529C>T	c.(4528-4530)TCT>TTT	p.S1510F	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1214F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S958F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S282F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1510					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20501735	20501735	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20501735A>G	uc002wrz.2	-	31	4053	c.3910T>C	c.(3910-3912)TGC>CGC	p.C1304R	RALGAPA2_uc010gcx.2_Missense_Mutation_p.C1008R|RALGAPA2_uc010zsg.1_Missense_Mutation_p.C752R|RALGAPA2_uc002wsa.1_Missense_Mutation_p.C76R	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1304					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21314803	21314803	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21314803A>T	uc002wsf.1	+	13	1308	c.1213A>T	c.(1213-1215)AAA>TAA	p.K405*	XRN2_uc002wsg.1_Nonsense_Mutation_p.K329*|XRN2_uc010zsk.1_Nonsense_Mutation_p.K351*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	405					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21367535	21367535	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21367535G>T	uc002wsf.1	+	29	2773	c.2678G>T	c.(2677-2679)TGG>TTG	p.W893L	XRN2_uc002wsg.1_Missense_Mutation_p.W817L|XRN2_uc010zsk.1_Missense_Mutation_p.W839L|XRN2_uc002wsh.1_Missense_Mutation_p.W31L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	893					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21494135	21494135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21494135C>T	uc002wsi.2	-	1	530	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	58					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2																		---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687524	21687524	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687524G>A	uc002wsj.2	+	2	789	c.735G>A	c.(733-735)ACG>ACA	p.T245T	PAX1_uc010zsl.1_Silent_p.T245T|PAX1_uc010zsm.1_Silent_p.T221T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	245					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---
FOXA2	3170	broad.mit.edu	37	20	22563705	22563705	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:22563705T>C	uc002wsn.2	-	3	347	c.157A>G	c.(157-159)AGC>GGC	p.S53G	FOXA2_uc002wsm.2_Missense_Mutation_p.S59G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	53	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)																	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016554	23016554	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23016554A>G	uc002wsr.2	+	1	498	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	145	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)																	---	---	---	---
THBD	7056	broad.mit.edu	37	20	23028480	23028480	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)													---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23346229	23346229	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23346229C>T	uc010gdb.2	+	3	1383	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G	GZF1_uc002wsy.2_Silent_p.G403G|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.G403G	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	403					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)																	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23473618	23473618	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23473618T>C	uc002wth.1	+	3	612	c.255T>C	c.(253-255)CTT>CTC	p.L85L		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)																	---	---	---	---
CST7	8530	broad.mit.edu	37	20	24930101	24930101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24930101G>A	uc002wtx.1	+	1	236	c.26G>A	c.(25-27)GGC>GAC	p.G9D		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25259027	25259027	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25259027C>T	uc002wup.2	+	8	1037	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	310					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
ABHD12	26090	broad.mit.edu	37	20	25319884	25319884	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25319884T>C	uc002wus.1	-	2	433	c.295A>G	c.(295-297)AAA>GAA	p.K99E	ABHD12_uc002wuq.2_Missense_Mutation_p.K99E|ABHD12_uc002wur.2_Missense_Mutation_p.K99E|ABHD12_uc002wut.1_Missense_Mutation_p.K99E|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	99	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1																		---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25405924	25405924	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25405924T>C	uc002wuv.1	+	5	542	c.408T>C	c.(406-408)ATT>ATC	p.I136I	GINS1_uc010zte.1_RNA	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	136					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
NINL	22981	broad.mit.edu	37	20	25456724	25456724	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25456724A>G	uc002wux.1	-	17	3277	c.3203T>C	c.(3202-3204)GTC>GCC	p.V1068A	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1068	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
HM13	81502	broad.mit.edu	37	20	30115329	30115329	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30115329G>A	uc002wwe.2	+	2	340	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HM13_uc002wwc.2_Missense_Mutation_p.A76T|HM13_uc002wwd.2_Missense_Mutation_p.A76T|HM13_uc002wwb.1_Missense_Mutation_p.A76T	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	76	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231252	30231252	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231252G>A	uc002wwj.1	+	4	368	c.293G>A	c.(292-294)CGC>CAC	p.R98H	COX4I2_uc002wwi.2_Missense_Mutation_p.R98H	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	98					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231301	30231301	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30231301A>T	uc002wwj.1	+	4	417	c.342A>T	c.(340-342)GGA>GGT	p.G114G	COX4I2_uc002wwi.2_Silent_p.G114G	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	114					cellular respiration		cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30486365	30486365	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30486365A>C	uc010gdx.1	+	4	456	c.203A>C	c.(202-204)AAG>ACG	p.K68T	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.E77D|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	68	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30556122	30556122	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30556122G>A	uc002wxe.2	+	1	318	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	48						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584555	30584555	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30584555A>G	uc002wxe.2	+	3	1209	c.1035A>G	c.(1033-1035)CAA>CAG	p.Q345Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	345						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30585102	30585102	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30585102C>T	uc002wxe.2	+	3	1756	c.1582C>T	c.(1582-1584)CCT>TCT	p.P528S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	528						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
C20orf160	140706	broad.mit.edu	37	20	30610484	30610484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4																		---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024914	31024914	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31024914C>A	uc002wxs.2	+	12	4825	c.4399C>A	c.(4399-4401)CTT>ATT	p.L1467I	ASXL1_uc010geb.2_Missense_Mutation_p.L1358I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
C20orf112	140688	broad.mit.edu	37	20	31041214	31041214	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31041214T>C	uc002wxu.3	-	5	815	c.658A>G	c.(658-660)ATC>GTC	p.I220V	C20orf112_uc010gec.2_Missense_Mutation_p.I45V	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	220											0																		---	---	---	---
C20orf186	149954	broad.mit.edu	37	20	31676772	31676772	+	Silent	SNP	G	A	A	rs149304342		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31676772G>A	uc010zue.1	+	6	942	c.927G>A	c.(925-927)GGG>GGA	p.G309G		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	309						cytoplasm|extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825664	31825664	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825664A>G	uc002wyv.2	+	2	217	c.147A>G	c.(145-147)GGA>GGG	p.G49G	PLUNC_uc002wyt.3_Silent_p.G49G|PLUNC_uc002wyu.3_Silent_p.G49G	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	49					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
PLUNC	51297	broad.mit.edu	37	20	31825986	31825986	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825986A>G	uc002wyv.2	+	3	356	c.286A>G	c.(286-288)ACG>GCG	p.T96A	PLUNC_uc002wyt.3_Missense_Mutation_p.T96A|PLUNC_uc002wyu.3_Missense_Mutation_p.T96A	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	96					innate immune response	extracellular region	lipid binding				0																		---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31982904	31982904	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31982904C>T	uc010gek.2	-	3	447	c.323G>A	c.(322-324)GGC>GAC	p.G108D	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.G18D|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wza.2_Missense_Mutation_p.G108D|CDK5RAP1_uc010gel.2_Missense_Mutation_p.G17D|CDK5RAP1_uc010gem.2_Missense_Mutation_p.G108D|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.G108D|CDK5RAP1_uc010gen.2_Missense_Mutation_p.G108D	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	108	MTTase N-terminal.|CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32258498	32258498	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32258498A>G	uc002wzn.3	-	3	361	c.255T>C	c.(253-255)CAT>CAC	p.H85H	NECAB3_uc002wzm.3_Silent_p.H85H|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.H36H|NECAB3_uc002wzq.3_Silent_p.H85H|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.H85H	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	85					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1																		---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32267551	32267551	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32267551C>T	uc002wzu.3	-							NM_005225	NP_005216			E2F transcription factor 1						apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
RALY	22913	broad.mit.edu	37	20	32660018	32660018	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32660018C>A	uc002xab.2	+	3	436	c.138C>A	c.(136-138)GGC>GGA	p.G46G	RALY_uc010zui.1_Silent_p.G46G|RALY_uc002xac.2_Silent_p.G46G|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.G46G	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	46	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
ASIP	434	broad.mit.edu	37	20	32848253	32848253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32848253C>T	uc002xah.1	+	1	83	c.73C>T	c.(73-75)CCA>TCA	p.P25S		NM_001672	NP_001663	P42127	ASIP_HUMAN	agouti signaling protein precursor	25					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)	1																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33026406	33026406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33026406C>T	uc010geu.1	+	9	964	c.772C>T	c.(772-774)CGA>TGA	p.R258*	ITCH_uc002xak.2_Nonsense_Mutation_p.R217*|ITCH_uc010zuj.1_Nonsense_Mutation_p.R107*	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	258	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33077191	33077191	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33077191G>C	uc010geu.1	+	22	2529	c.2337G>C	c.(2335-2337)GAG>GAC	p.E779D	ITCH_uc002xak.2_Missense_Mutation_p.E738D|ITCH_uc010zuj.1_Missense_Mutation_p.E628D	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	779	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6																		---	---	---	---
PIGU	128869	broad.mit.edu	37	20	33222471	33222471	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33222471G>T	uc002xas.2	-	6	677	c.477C>A	c.(475-477)ACC>ACA	p.T159T	PIGU_uc010zul.1_Silent_p.T159T|PIGU_uc002xat.2_Silent_p.T139T|PIGU_uc010gev.1_RNA	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	159					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0																		---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33328893	33328893	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33328893C>G	uc002xav.2	-	12	7738	c.5167G>C	c.(5167-5169)GCT>CCT	p.A1723P	NCOA6_uc002xaw.2_Missense_Mutation_p.A1723P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1723	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7																		---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33509131	33509131	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33509131A>G	uc002xbd.2	+	11	1399	c.1278_splice	c.e11-2	p.K426_splice	ACSS2_uc002xbc.2_Splice_Site_p.K331_splice|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Splice_Site_p.K439_splice|ACSS2_uc002xbe.2_Splice_Site_p.K134_splice|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147			acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33514025	33514025	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33514025T>A	uc002xbd.2	+	16	1965	c.1844T>A	c.(1843-1845)GTC>GAC	p.V615D	ACSS2_uc002xbc.2_Missense_Mutation_p.V520D|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.V628D|ACSS2_uc002xbe.2_Missense_Mutation_p.V323D|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	615				V -> F (in Ref. 3; AAH12172).	ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
GSS	2937	broad.mit.edu	37	20	33517328	33517328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33517328C>T	uc002xbg.2	-	12	1257	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	GSS_uc010zun.1_Missense_Mutation_p.A265T|GSS_uc010zuo.1_Missense_Mutation_p.A282T|GSS_uc010zup.1_Missense_Mutation_p.A324T|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.A123T	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	393					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)													---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33581008	33581008	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33581008T>C	uc002xbi.1	+	23	2505	c.2413T>C	c.(2413-2415)TAC>CAC	p.Y805H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	763	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33582006	33582006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33582006G>A	uc002xbi.1	+	25	2720	c.2628G>A	c.(2626-2628)TGG>TGA	p.W876*		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	834						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33600808	33600808	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33600808T>C	uc002xbk.2	-						TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Intron|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Intron	NM_015638	NP_056453			TRPC4-associated protein isoform a						protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
EDEM2	55741	broad.mit.edu	37	20	33706412	33706412	+	Missense_Mutation	SNP	C	T	T	rs142171544		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33706412C>T	uc002xbo.2	-	10	1325	c.1225G>A	c.(1225-1227)GGA>AGA	p.G409R	EDEM2_uc010zuv.1_Missense_Mutation_p.G368R|EDEM2_uc010zus.1_Missense_Mutation_p.G188R|EDEM2_uc002xbq.2_Missense_Mutation_p.G372R|EDEM2_uc010zut.1_Missense_Mutation_p.G368R|EDEM2_uc002xbp.2_Missense_Mutation_p.G257R|EDEM2_uc002xbn.2_Missense_Mutation_p.G257R|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.G133R	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	409					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33879869	33879869	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33879869T>C	uc010zux.1	-	1	357	c.239A>G	c.(238-240)TAC>TGC	p.Y80C	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	80										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
UQCC	55245	broad.mit.edu	37	20	33981905	33981905	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33981905C>T	uc002xcd.2	-	2	186	c.119G>A	c.(118-120)CGC>CAC	p.R40H	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Missense_Mutation_p.R40H|UQCC_uc002xce.2_Missense_Mutation_p.R40H|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.R40H|UQCC_uc010zvb.1_Missense_Mutation_p.R40H|UQCC_uc002xcf.2_Silent_p.S20S|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_5'UTR|UQCC_uc010gfd.1_Silent_p.S20S	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	40						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34022040	34022040	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34022040T>C	uc010gfc.1	-	2	1414	c.1173A>G	c.(1171-1173)CGA>CGG	p.R391R	uc002xcj.2_Missense_Mutation_p.S151P|GDF5_uc002xck.1_Silent_p.R391R|GDF5_uc010zvc.1_Silent_p.R391R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	391					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)															---	---	---	---
ERGIC3	51614	broad.mit.edu	37	20	34143804	34143804	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34143804A>T	uc002xct.2	+	9	787	c.718A>T	c.(718-720)ATC>TTC	p.I240F	ERGIC3_uc010zvg.1_Missense_Mutation_p.I240F|ERGIC3_uc002xcs.2_Missense_Mutation_p.I245F|ERGIC3_uc002xcu.2_Missense_Mutation_p.I255F|ERGIC3_uc002xcv.2_Missense_Mutation_p.I203F	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	240	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)															---	---	---	---
CPNE1	8904	broad.mit.edu	37	20	34220721	34220721	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34220721G>A	uc002xdf.2	-	4	488	c.125C>T	c.(124-126)GCT>GTT	p.A42V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.A47V|CPNE1_uc002xde.2_Missense_Mutation_p.A42V|CPNE1_uc002xdg.2_Missense_Mutation_p.A42V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A42V|CPNE1_uc002xdi.2_Missense_Mutation_p.A42V|CPNE1_uc002xdj.2_Missense_Mutation_p.A42V|CPNE1_uc002xdk.2_Missense_Mutation_p.A42V|CPNE1_uc002xdl.2_Missense_Mutation_p.A42V|CPNE1_uc002xdm.2_Missense_Mutation_p.A42V|CPNE1_uc010gfk.1_Missense_Mutation_p.A42V|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	42	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34241387	34241387	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34241387T>C	uc002xdq.2	-	3	2090	c.1858A>G	c.(1858-1860)ACC>GCC	p.T620A	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.T620A|RBM12_uc002xds.2_Missense_Mutation_p.T620A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	620						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34242789	34242789	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34242789T>C	uc002xdq.2	-	3	688	c.456A>G	c.(454-456)ACA>ACG	p.T152T	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.T152T|RBM12_uc002xds.2_Silent_p.T152T	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	152						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35071143	35071143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35071143C>T	uc002xff.2	+	6	1805	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A457V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	457					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35125394	35125394	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35125394A>G	uc002xff.2	+	8	2370	c.1935A>G	c.(1933-1935)GAA>GAG	p.E645E	DLGAP4_uc010zvp.1_Silent_p.E645E|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Silent_p.E106E|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	645					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
C20orf24	55969	broad.mit.edu	37	20	35240458	35240458	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35240458T>C	uc002xfq.2	+	4					C20orf24_uc002xfo.2_3'UTR|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Silent_p.G88G|C20orf24_uc002xfs.2_3'UTR	NM_018840	NP_061328			RAB5-interacting protein isoform a								protein binding				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35293440	35293440	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35293440C>T	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
VSTM2L	128434	broad.mit.edu	37	20	36572479	36572479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36572479T>C	uc002xhk.3	+	4	693	c.439T>C	c.(439-441)TTC>CTC	p.F147L		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	147	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---
KIAA0406	9675	broad.mit.edu	37	20	36641206	36641206	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36641206C>T	uc002xhl.2	-	3	1222	c.1013G>A	c.(1012-1014)GGA>GAA	p.G338E	KIAA0406_uc002xhm.2_Missense_Mutation_p.G338E	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
TGM2	7052	broad.mit.edu	37	20	36767989	36767989	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36767989A>G	uc002xhr.2	-	9	1267	c.1167T>C	c.(1165-1167)GAT>GAC	p.D389D	TGM2_uc010zvx.1_Silent_p.D308D|TGM2_uc010zvy.1_Silent_p.D329D|TGM2_uc002xhs.1_Silent_p.D365D|TGM2_uc002xht.2_Silent_p.D389D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)													---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36869061	36869061	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36869061A>T	uc002xhy.1	-	3	1744	c.1472T>A	c.(1471-1473)CTC>CAC	p.L491H	KIAA1755_uc002xhz.1_Missense_Mutation_p.L491H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	491										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356555	37356555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356555A>G	uc002xjc.2	+	2	1114	c.851A>G	c.(850-852)TAC>TGC	p.Y284C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	284	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356973	37356973	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356973C>T	uc002xjc.2	+	2	1532	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	423	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39690105	39690105	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39690105C>T	uc002xjl.2	+	3	376	c.130C>T	c.(130-132)CGG>TGG	p.R44W	TOP1_uc010gge.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	44	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39744080	39744080	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39744080G>A	uc002xjl.2	+	16	1953	c.1707_splice	c.e16+1	p.N569_splice	uc002xjn.1_Intron	NM_003286	NP_003277			DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39792036	39792036	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39792036C>T	uc002xjp.1	+	9	929	c.808C>T	c.(808-810)CGC>TGC	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	270					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798806	39798806	+	Missense_Mutation	SNP	C	T	T	rs140033921		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39798806C>T	uc002xjp.1	+	24	2826	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	PLCG1_uc002xjo.1_Missense_Mutation_p.A902V|PLCG1_uc010zwe.1_Missense_Mutation_p.A528V|PLCG1_uc010ggf.2_Missense_Mutation_p.A226V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	902	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39831411	39831411	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39831411T>A	uc002xjs.1	-	3	2524	c.2146A>T	c.(2146-2148)ATC>TTC	p.I716F	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.I716F|ZHX3_uc002xjt.1_Missense_Mutation_p.I716F|ZHX3_uc002xju.1_Missense_Mutation_p.I716F|ZHX3_uc002xjv.1_Missense_Mutation_p.I716F|ZHX3_uc002xjw.1_Missense_Mutation_p.I716F|ZHX3_uc010ggg.1_Missense_Mutation_p.I716F	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	716					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832356	39832356	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39832356T>C	uc002xjs.1	-	3	1579	c.1201A>G	c.(1201-1203)AAT>GAT	p.N401D	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N401D|ZHX3_uc002xjt.1_Missense_Mutation_p.N401D|ZHX3_uc002xju.1_Missense_Mutation_p.N401D|ZHX3_uc002xjv.1_Missense_Mutation_p.N401D|ZHX3_uc002xjw.1_Missense_Mutation_p.N401D|ZHX3_uc010ggg.1_Missense_Mutation_p.N401D	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	401	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39987087	39987087	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39987087T>C	uc002xjx.2	+	19	2407	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	LPIN3_uc010ggh.2_Silent_p.F773F|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	772	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049561	40049561	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40049561T>C	uc002xka.1	-	31	5892	c.5714A>G	c.(5713-5715)AAC>AGC	p.N1905S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1905					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40085990	40085990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40085990G>A	uc002xka.1	-	18	2921	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	CHD6_uc002xkd.2_Missense_Mutation_p.R893C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	915	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713431	40713431	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40713431A>T	uc002xkg.2	-	29	4211	c.4027T>A	c.(4027-4029)TAC>AAC	p.Y1343N	PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362N|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1343	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864873	40864873	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40864873A>G	uc002xkg.2	-	15	2522	c.2338T>C	c.(2338-2340)TAC>CAC	p.Y780H	PTPRT_uc010ggj.2_Missense_Mutation_p.Y799H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	780	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---
L3MBTL	26013	broad.mit.edu	37	20	42159069	42159069	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42159069A>G	uc010zwh.1	+						L3MBTL_uc002xkl.2_Intron|L3MBTL_uc002xkm.2_Intron|L3MBTL_uc010ggl.2_Intron|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293			l(3)mbt-like isoform I						chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42232531	42232531	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42232531T>C	uc002xkw.2	+	4	459	c.337_splice	c.e4+2	p.D113_splice	IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Splice_Site_p.D113_splice|IFT52_uc002xkx.2_Splice_Site|IFT52_uc010ggn.2_Splice_Site_p.D113_splice|IFT52_uc002xkz.2_Splice_Site_p.D113_splice	NM_016004	NP_057088			intraflagellar transport 52 homolog							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42265849	42265849	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42265849C>T	uc002xkw.2	+	12	1198	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	IFT52_uc002xky.2_Missense_Mutation_p.T359M|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.T335M|IFT52_uc002xkz.2_Missense_Mutation_p.T359M	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42744457	42744457	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42744457C>T	uc002xli.1	-	4	2731	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	620	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
YWHAB	7529	broad.mit.edu	37	20	43530375	43530375	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43530375T>C	uc002xmt.2	+	3	483	c.201T>C	c.(199-201)ATT>ATC	p.I67I	YWHAB_uc002xmu.2_Silent_p.I67I	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	67					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
TOMM34	10953	broad.mit.edu	37	20	43583713	43583713	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43583713T>C	uc002xmy.2	-	3	516	c.376A>G	c.(376-378)AAC>GAC	p.N126D	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	126				N -> S (in Ref. 5; BAD96672).	protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---
WFDC5	149708	broad.mit.edu	37	20	43739138	43739138	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43739138G>A	uc002xne.1	-	3	349	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	90	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43945607	43945607	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43945607C>T	uc002xns.2	+	12					RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091			recombining binding protein L						signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SPINLW1	57119	broad.mit.edu	37	20	44166681	44166681	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44166681A>G	uc010zxc.1	-	4	476	c.444T>C	c.(442-444)TGT>TGC	p.C148C	WFDC6_uc002xos.1_Silent_p.C48C	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	48	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44469372	44469372	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44469372A>C	uc002xpv.1	+	4	631	c.542A>C	c.(541-543)AAC>ACC	p.N181T	SNX21_uc002xps.1_Missense_Mutation_p.N181T|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.N171T|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	181	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44505771	44505771	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44505771T>C	uc002xqd.2	+	2	777	c.574T>C	c.(574-576)TTC>CTC	p.F192L	ZSWIM3_uc010zxg.1_Missense_Mutation_p.F186L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	192							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506225	44506225	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44506225C>A	uc002xqd.2	+	2	1231	c.1028C>A	c.(1027-1029)TCT>TAT	p.S343Y	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S337Y	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	343							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44538650	44538650	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44538650T>C	uc002xqn.1	-	4	340	c.260A>G	c.(259-261)GAG>GGG	p.E87G	PLTP_uc002xql.1_5'UTR|PLTP_uc002xqm.1_Missense_Mutation_p.E107G|PLTP_uc002xqo.1_Missense_Mutation_p.E87G|PLTP_uc002xqp.1_Missense_Mutation_p.E87G|PLTP_uc002xqq.1_Missense_Mutation_p.E56G|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.E87G	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	87					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44596981	44596981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44596981C>T	uc002xqw.2	-	4	586	c.463G>A	c.(463-465)GCT>ACT	p.A155T	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.A123T|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44640886	44640886	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44640886C>T	uc002xqz.2	+	7	1127	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	370	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)													---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691317	44691317	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44691317C>T	uc002xrd.2	-	7	1890	c.1362G>A	c.(1360-1362)TCG>TCA	p.S454S	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.S454S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44869870	44869870	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44869870G>A	uc002xrm.2	-	2	683	c.282C>T	c.(280-282)GAC>GAT	p.D94D	CDH22_uc010ghk.1_Silent_p.D94D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	94	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC35C2	51006	broad.mit.edu	37	20	44983738	44983738	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44983738T>C	uc002xro.2	-	6	1092	c.551A>G	c.(550-552)CAG>CGG	p.Q184R	SLC35C2_uc002xrp.2_Missense_Mutation_p.Q163R|SLC35C2_uc002xrq.2_Missense_Mutation_p.Q184R|SLC35C2_uc002xrr.2_Missense_Mutation_p.Q184R|SLC35C2_uc010zxn.1_Missense_Mutation_p.Q49R|SLC35C2_uc010zxo.1_Missense_Mutation_p.Q70R|SLC35C2_uc010zxp.1_Missense_Mutation_p.Q213R	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	184					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44996115	44996115	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44996115G>A	uc002xrt.1	-	22	2257	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	ELMO2_uc010zxq.1_Silent_p.L415L|ELMO2_uc002xrs.1_Silent_p.L430L|ELMO2_uc002xru.1_Silent_p.L683L|ELMO2_uc010zxr.1_Silent_p.L695L|ELMO2_uc010zxs.1_Silent_p.L500L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	683					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44999996	44999996	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44999996T>A	uc002xrt.1	-	19	2006	c.1796A>T	c.(1795-1797)GAG>GTG	p.E599V	ELMO2_uc010zxq.1_Missense_Mutation_p.E331V|ELMO2_uc002xrs.1_Missense_Mutation_p.E346V|ELMO2_uc002xru.1_Missense_Mutation_p.E599V|ELMO2_uc010zxr.1_Missense_Mutation_p.E611V|ELMO2_uc010zxs.1_Missense_Mutation_p.E416V|ELMO2_uc002xrv.1_Missense_Mutation_p.E318V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	599	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45129985	45129985	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45129985A>G	uc002xsc.2	-	5	2177	c.1993T>C	c.(1993-1995)TTT>CTT	p.F665L	ZNF334_uc002xsa.2_Missense_Mutation_p.F688L|ZNF334_uc002xsb.2_Missense_Mutation_p.F627L|ZNF334_uc002xsd.2_Missense_Mutation_p.F627L|ZNF334_uc010ghl.2_Missense_Mutation_p.F664L	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	665	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130828	45130828	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45130828T>C	uc002xsc.2	-	5	1334	c.1150A>G	c.(1150-1152)AAA>GAA	p.K384E	ZNF334_uc002xsa.2_Missense_Mutation_p.K407E|ZNF334_uc002xsb.2_Missense_Mutation_p.K346E|ZNF334_uc002xsd.2_Missense_Mutation_p.K346E|ZNF334_uc010ghl.2_Missense_Mutation_p.K383E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45354435	45354435	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC2A10	81031	broad.mit.edu	37	20	45357988	45357988	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45357988C>A	uc002xsl.2	+							NM_030777	NP_110404			solute carrier family 2 member 10							endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46279854	46279854	+	Silent	SNP	G	A	A	rs72181894		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46279854G>A	uc002xtk.2	+	20	3985	c.3780G>A	c.(3778-3780)CAG>CAA	p.Q1260Q	NCOA3_uc010ght.1_Silent_p.Q1251Q|NCOA3_uc002xtl.2_Silent_p.Q1256Q|NCOA3_uc002xtm.2_Silent_p.Q1255Q|NCOA3_uc002xtn.2_Silent_p.Q1259Q|NCOA3_uc010zyc.1_Silent_p.Q1055Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1260	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281156	46281156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281156G>A	uc002xtk.2	+	21	4158	c.3953G>A	c.(3952-3954)GGA>GAA	p.G1318E	NCOA3_uc002xtl.2_Missense_Mutation_p.G1314E|NCOA3_uc002xtm.2_Missense_Mutation_p.G1313E|NCOA3_uc002xtn.2_Missense_Mutation_p.G1317E|NCOA3_uc010zyc.1_Missense_Mutation_p.G1113E	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1318					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47262383	47262383	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47262383A>G	uc002xtw.1	-						PREX1_uc002xtv.1_Intron	NM_020820	NP_065871			phosphatidylinositol-3,4,						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266665	47266665	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47266665T>C	uc002xtw.1	-	24	2920	c.2897A>G	c.(2896-2898)GAC>GGC	p.D966G	PREX1_uc002xtv.1_Missense_Mutation_p.D263G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	966					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47585715	47585715	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47585715C>T	uc002xtx.3	+	9	1243	c.1091C>T	c.(1090-1092)GCC>GTC	p.A364V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	364					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47601974	47601974	+	Silent	SNP	C	T	T	rs145085689		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47601974C>T	uc002xtx.3	+	16	2252	c.2100C>T	c.(2098-2100)AGC>AGT	p.S700S	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	700	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47621755	47621755	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47621755A>G	uc002xtx.3	+	26	3733	c.3581A>G	c.(3580-3582)AAC>AGC	p.N1194S	ARFGEF2_uc010zyf.1_Missense_Mutation_p.N487S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1194					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47630429	47630429	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47630429T>C	uc002xtx.3	+	30	4263	c.4111T>C	c.(4111-4113)TGG>CGG	p.W1371R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.W664R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1371					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47852753	47852753	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47852753T>C	uc002xuh.2	+	13	1648	c.1587T>C	c.(1585-1587)ATT>ATC	p.I529I		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47863988	47863988	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47863988C>T	uc002xui.2	-	14	5820	c.5573G>A	c.(5572-5574)GGC>GAC	p.G1858D		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1858							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47874037	47874037	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47874037C>T	uc002xui.2	-	8	2828	c.2581G>A	c.(2581-2583)GCT>ACT	p.A861T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	861							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47990019	47990019	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47990019T>A	uc002xur.1	-	2	2242	c.2078A>T	c.(2077-2079)GAC>GTC	p.D693V	KCNB1_uc002xus.1_Missense_Mutation_p.D693V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	693	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48431651	48431651	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48431651G>A	uc002xuv.1	+	2	343	c.133G>A	c.(133-135)GTG>ATG	p.V45M	SLC9A8_uc010zym.1_Translation_Start_Site|SLC9A8_uc010zyj.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyk.1_Missense_Mutation_p.V45M|SLC9A8_uc010zyl.1_Missense_Mutation_p.V45M|SLC9A8_uc010gib.1_Missense_Mutation_p.V45M	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	45						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)															---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49211903	49211903	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49211903T>C	uc002xvm.2	-						FAM65C_uc010zyt.1_Intron|FAM65C_uc010zyu.1_Intron	NM_080829	NP_543019			hypothetical protein LOC140876											ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49218812	49218812	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49218812C>A	uc002xvm.2	-	13	1762	c.1444G>T	c.(1444-1446)GGC>TGC	p.G482C	FAM65C_uc010zyt.1_Missense_Mutation_p.G486C|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.G482C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	482										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49224977	49224977	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49224977A>G	uc002xvm.2	-	11	1211	c.893T>C	c.(892-894)GTG>GCG	p.V298A	FAM65C_uc010zyt.1_Missense_Mutation_p.V302A|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V298A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	298										ovary(2)	2																		---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49225053	49225053	+	Missense_Mutation	SNP	G	T	T	rs139011816		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49225053G>T	uc002xvm.2	-	11	1135	c.817C>A	c.(817-819)CTG>ATG	p.L273M	FAM65C_uc010zyt.1_Missense_Mutation_p.L277M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.L273M	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	273										ovary(2)	2																		---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49575045	49575045	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49575045C>G	uc002xvw.1	-	1	16	c.16G>C	c.(16-18)GTC>CTC	p.V6L	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	6					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50139780	50139780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50139780C>T	uc002xwd.2	-	2	1220	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	NFATC2_uc002xwc.2_Missense_Mutation_p.A334T|NFATC2_uc010zyv.1_Missense_Mutation_p.A115T|NFATC2_uc010zyw.1_Missense_Mutation_p.A115T|NFATC2_uc010zyx.1_Missense_Mutation_p.A314T|NFATC2_uc010zyy.1_Missense_Mutation_p.A115T|NFATC2_uc010zyz.1_Missense_Mutation_p.A115T|NFATC2_uc002xwe.2_Missense_Mutation_p.A314T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	334					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)																	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50235532	50235532	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50235532C>T	uc002xwg.1	-	20	2166	c.2166G>A	c.(2164-2166)AAG>AAA	p.K722K	ATP9A_uc010gih.1_Silent_p.K586K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	722	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406794	50406794	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50406794A>G	uc002xwh.3	-	2	2329	c.2228T>C	c.(2227-2229)CTG>CCG	p.L743P	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	743					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50715059	50715059	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50715059C>A	uc002xwk.2	-	6	1180	c.831G>T	c.(829-831)AAG>AAT	p.K277N	ZFP64_uc002xwj.2_Missense_Mutation_p.K58N	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198090	52198090	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52198090C>T	uc002xwq.3	-	1	1547	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52573988	52573988	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52573988T>C	uc002xws.2	-	10	1737	c.1399A>G	c.(1399-1401)AAA>GAA	p.K467E	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Intron|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.K453E|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	467						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779357	52779357	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52779357G>A	uc002xwv.2	-	7	1287	c.889C>T	c.(889-891)CCT>TCT	p.P297S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P155S|CYP24A1_uc002xww.2_Missense_Mutation_p.P297S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	297					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)													---	---	---	---
AURKA	6790	broad.mit.edu	37	20	54956577	54956577	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54956577A>G	uc002xxd.1	-	8	1183	c.617T>C	c.(616-618)GTC>GCC	p.V206A	AURKA_uc002xxe.1_Missense_Mutation_p.V206A|AURKA_uc002xxf.1_Missense_Mutation_p.V206A|AURKA_uc002xxg.1_Missense_Mutation_p.V206A|AURKA_uc002xxh.1_Missense_Mutation_p.V206A|AURKA_uc002xxi.1_Missense_Mutation_p.V206A|AURKA_uc002xxj.1_Missense_Mutation_p.V206A|AURKA_uc002xxk.1_Missense_Mutation_p.V206A|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	206	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)															---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735739	56735739	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56735739C>T	uc002xyv.2	+	4	313	c.275C>T	c.(274-276)CCA>CTA	p.P92L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	92										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)															---	---	---	---
STX16	8675	broad.mit.edu	37	20	57244488	57244488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57244488G>A	uc002xzi.2	+	5	1270	c.535G>A	c.(535-537)GCA>ACA	p.A179T	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.A162T|STX16_uc002xzm.2_Missense_Mutation_p.A175T|STX16_uc002xzj.2_Missense_Mutation_p.A158T|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	179	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)															---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57429108	57429108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57429108C>T	uc002xzw.2	+	1	1073	c.788C>T	c.(787-789)GCG>GTG	p.A263V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)					Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57566480	57566480	+	Silent	SNP	C	T	T	rs143108259	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57566480C>T	uc002yag.2	+	9	1122	c.1095C>T	c.(1093-1095)AGC>AGT	p.S365S	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	365					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TH1L	51497	broad.mit.edu	37	20	57568788	57568788	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57568788A>G	uc002yag.2	+	13	1604	c.1577A>G	c.(1576-1578)GAC>GGC	p.D526G	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	526					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)															---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57599377	57599377	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57599377A>G	uc002yak.2	+	4	1164	c.895A>G	c.(895-897)ACC>GCC	p.T299A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	299					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)													---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766438	57766438	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766438C>T	uc002yan.2	+	1	364	c.364C>T	c.(364-366)CCT>TCT	p.P122S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	122						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766652C>T	uc002yan.2	+	1	578	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766659	57766659	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58470489	58470489	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58470489T>A	uc002yaz.2	-							NM_014258	NP_055073			synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)															---	---	---	---
C20orf177	63939	broad.mit.edu	37	20	58519370	58519370	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58519370A>G	uc002yba.2	+	5	787	c.372A>G	c.(370-372)CCA>CCG	p.P124P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P124P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	124										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)															---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58533771	58533771	+	5'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58533771G>A	uc002ybe.2	+	1					CDH26_uc010zzy.1_RNA	NM_177980	NP_817089			cadherin-like 26 isoform a						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---
MIR646	693231	broad.mit.edu	37	20	58883599	58883599	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58883599T>C	hsa-mir-646|MI0003661	+			c.68T>C			uc002ybl.2_Intron|uc010gjw.1_Intron																	0																		---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60898735	60898735	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60898735A>G	uc002ycq.2	-							NM_005560	NP_005551			laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
C20orf200	253868	broad.mit.edu	37	20	61143670	61143670	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61143670G>A	uc002ycz.1	-	3	669	c.178C>T	c.(178-180)CGG>TGG	p.R60W	C20orf200_uc002ycy.2_RNA	NM_152757	NP_689970			hypothetical protein LOC253868												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)															---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61391524	61391524	+	Missense_Mutation	SNP	C	T	T	rs73918681	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61391524C>T	uc002ydf.2	+	4	1533	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	388	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)															---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61941211	61941211	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61941211C>T	uc011aau.1	+	10	1307	c.1207C>T	c.(1207-1209)CAC>TAC	p.H403Y	COL20A1_uc011aav.1_Missense_Mutation_p.H224Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	403	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)															OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981776	61981776	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61981776G>A	uc002yes.2	-	5	1165	c.987C>T	c.(985-987)AAC>AAT	p.N329N	CHRNA4_uc002yet.1_Silent_p.N153N|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.N258N|CHRNA4_uc002yev.1_Silent_p.N153N|CHRNA4_uc010gkf.1_Silent_p.N153N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	329	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)													---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038197	62038197	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62038197T>C	uc002yey.1	-	17	2596	c.2419A>G	c.(2419-2421)ATC>GTC	p.I807V	KCNQ2_uc002yez.1_Missense_Mutation_p.I776V|KCNQ2_uc002yfa.1_Missense_Mutation_p.I789V|KCNQ2_uc002yfb.1_Missense_Mutation_p.I779V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	807	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62121899	62121899	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62121899C>T	uc002yfd.1	-	5	1063	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.R321Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.R321Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62192702	62192702	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62192702C>T	uc002yfm.2	-	14	7845	c.6953_splice	c.e14+1	p.W2318_splice	PRIC285_uc002yfl.1_Splice_Site_p.W1749_splice	NM_001037335	NP_001032412			PPAR-alpha interacting complex protein 285						cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62196064	62196064	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62196064G>A	uc002yfm.2	-	9	5003	c.4111C>T	c.(4111-4113)CAC>TAC	p.H1371Y	PRIC285_uc002yfl.1_Missense_Mutation_p.H802Y	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1371					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62319644	62319644	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62319644G>A	uc002yfu.1	+						RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518			regulator of telomere elongation helicase 1						DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62324280	62324280	+	Silent	SNP	C	A	A	rs12480346	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62324280C>A	uc002yfu.1	+	29	3118	c.2775C>A	c.(2773-2775)TCC>TCA	p.S925S	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.S925S|RTEL1_uc011abd.1_Silent_p.S949S|RTEL1_uc011abe.1_Silent_p.S702S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.S170S|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	925					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62378537	62378537	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62378537C>T	uc002ygv.1	-	5	1717	c.1516G>A	c.(1516-1518)GGC>AGC	p.G506S	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)																	---	---	---	---
UCKL1	54963	broad.mit.edu	37	20	62577085	62577085	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62577085A>G	uc010gkn.2	-						UCKL1_uc011abm.1_Intron|UCKL1_uc011abn.1_Intron|UCKL1_uc011abo.1_Intron	NM_017859	NP_060329			uridine-cytidine kinase 1-like 1						interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62597536	62597536	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62597536T>A	uc002yhl.1	-	5	1046	c.992A>T	c.(991-993)AAC>ATC	p.N331I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
PRPF6	24148	broad.mit.edu	37	20	62626810	62626810	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62626810C>A	uc002yho.2	+	6	914	c.746C>A	c.(745-747)ACT>AAT	p.T249N	PRPF6_uc002yhp.2_Missense_Mutation_p.T249N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	249					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---
RGS19	10287	broad.mit.edu	37	20	62705223	62705223	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62705223A>T	uc002yhy.2	-	6	904	c.637T>A	c.(637-639)TCC>ACC	p.S213T	RGS19_uc002yhz.2_Missense_Mutation_p.S191T|RGS19_uc002yia.2_Missense_Mutation_p.S213T|RGS19_uc002yib.2_Missense_Mutation_p.S213T	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	213	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)																	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737989	62737989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62737989C>T	uc011abt.1	-	1	196	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	66	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)																	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62896678	62896678	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62896678T>C	uc002yil.3	+	4	678	c.478T>C	c.(478-480)TAT>CAT	p.Y160H	PCMTD2_uc002yim.3_Missense_Mutation_p.Y160H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	160						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)																	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599525	15599525	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15599525A>G	uc002yjo.3	+	5	799	c.757A>G	c.(757-759)ACA>GCA	p.T253A	RBM11_uc002yjn.3_Missense_Mutation_p.T139A|RBM11_uc002yjp.3_Missense_Mutation_p.T139A	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	253							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17172081	17172081	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17172081A>T	uc002yjy.1	+	6	778	c.561A>T	c.(559-561)TTA>TTT	p.L187F	USP25_uc011aby.1_Missense_Mutation_p.L187F|USP25_uc002yjz.1_Missense_Mutation_p.L187F|USP25_uc010gla.1_Missense_Mutation_p.L187F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	187					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17203831	17203831	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17203831A>T	uc002yjy.1	+	16	2093	c.1876A>T	c.(1876-1878)ATT>TTT	p.I626F	USP25_uc011aby.1_Missense_Mutation_p.I626F|USP25_uc002yjz.1_Missense_Mutation_p.I626F|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	626					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
USP25	29761	broad.mit.edu	37	21	17246734	17246734	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17246734C>A	uc002yjy.1	+	22	2905	c.2688C>A	c.(2686-2688)TCC>TCA	p.S896S	USP25_uc011aby.1_Silent_p.S966S|USP25_uc002yjz.1_Silent_p.S928S|USP25_uc010gla.1_Silent_p.S291S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	896					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)														---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19642347C>T	uc002ykw.2	-	25	3030	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	1000	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8																		---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746311	22746311	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22746311G>A	uc002yld.1	+	9	1422	c.1173G>A	c.(1171-1173)AAG>AAA	p.K391K	NCAM2_uc011acb.1_Silent_p.K249K|NCAM2_uc011acc.1_Silent_p.K416K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	391	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---
ATP5J	522	broad.mit.edu	37	21	27102015	27102015	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27102015C>T	uc002yls.2	-	2	764	c.91G>A	c.(91-93)GCA>ACA	p.A31T	ATP5J_uc002ylt.2_Missense_Mutation_p.A31T|ATP5J_uc002ylu.2_Missense_Mutation_p.A31T|ATP5J_uc002ylv.2_Missense_Mutation_p.A39T|ATP5J_uc002ylw.2_Missense_Mutation_p.A31T	NM_001685	NP_001676	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	31					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0																		---	---	---	---
APP	351	broad.mit.edu	37	21	27372463	27372463	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27372463G>A	uc002ylz.2	-	7	1100	c.900C>T	c.(898-900)TGC>TGT	p.C300C	APP_uc010glk.2_Silent_p.C295C|APP_uc002yma.2_Silent_p.C300C|APP_uc011ach.1_Silent_p.C244C|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	300	Extracellular (Potential).|BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
CYYR1	116159	broad.mit.edu	37	21	27852713	27852713	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27852713A>C	uc002ymd.2	-	3	534	c.212T>G	c.(211-213)GTA>GGA	p.V71G	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.V71G	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	71	Helical; (Potential).					integral to membrane					0																		---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28212379	28212379	+	Missense_Mutation	SNP	G	A	A	rs142639689	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28212379G>A	uc002ymf.2	-	6	2122	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	556	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)														---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28302342	28302342	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28302342G>A	uc002ymg.2	-	7	2817	c.2088C>T	c.(2086-2088)TCC>TCT	p.S696S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30302844	30302844	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30302844A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30318468	30318468	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30318468A>C	uc002ymr.2	-							NM_015565	NP_056380			zinc finger protein 294								ligase activity|zinc ion binding				0																		---	---	---	---
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30380219A>T	uc002yms.2	-	4	675	c.588T>A	c.(586-588)CAT>CAA	p.H196Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	196											0																		---	---	---	---
USP16	10600	broad.mit.edu	37	21	30409640	30409640	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30409640A>G	uc002ymy.2	+	6	694	c.492A>G	c.(490-492)TTA>TTG	p.L164L	USP16_uc002ymx.2_Silent_p.L163L|USP16_uc002ymw.2_Silent_p.L164L|USP16_uc011acm.1_Silent_p.L149L|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	164					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	30910122	30910122	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30910122C>T	uc011acs.1	-						GRIK1_uc002ynn.2_Intron|GRIK1_uc011act.1_Intron	NM_000830	NP_000821			glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)													---	---	---	---
KRTAP23-1	337963	broad.mit.edu	37	21	31720870	31720870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31720870G>T	uc002yny.1	-	1	55	c.55C>A	c.(55-57)CTG>ATG	p.L19M		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	19						intermediate filament					0																		---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802878	31802878	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31802878G>T	uc011acw.1	+	1	285	c.285G>T	c.(283-285)CAG>CAT	p.Q95H		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	95						intermediate filament					0																		---	---	---	---
C21orf45	54069	broad.mit.edu	37	21	33647200	33647200	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33647200G>T	uc002ypi.2	-	2	393	c.342C>A	c.(340-342)TCC>TCA	p.S114S	C21orf45_uc011adn.1_Silent_p.S114S	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	114					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34117160	34117160	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34117160T>C	uc002yqn.2	-	13	2323	c.2133A>G	c.(2131-2133)ACA>ACG	p.T711T	GCFC1_uc002yql.2_Silent_p.T220T|GCFC1_uc002yqm.2_Silent_p.T205T|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.T711T	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	711				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
GCFC1	94104	broad.mit.edu	37	21	34136657	34136657	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34136657A>G	uc002yqn.2	-	3	839	c.649_splice	c.e3+1	p.G217_splice	GCFC1_uc002yqo.2_Splice_Site|GCFC1_uc002yqp.2_Splice_Site_p.G217_splice|GCFC1_uc002yqr.2_Splice_Site_p.G217_splice	NM_016631	NP_057715			GC-rich sequence DNA-binding factor candidate							cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34617301	34617301	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34617301T>A	uc002yrd.2	+	4	471	c.143T>A	c.(142-144)TTC>TAC	p.F48Y	IFNAR2_uc002yrb.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrc.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yre.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrf.2_Missense_Mutation_p.F48Y|IFNAR2_uc002yrg.2_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	48	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619086	34619086	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619086C>T	uc002yrd.2	+	5	613	c.285C>T	c.(283-285)CTC>CTT	p.L95L	IFNAR2_uc002yrb.2_Silent_p.L95L|IFNAR2_uc002yrc.2_Silent_p.L95L|IFNAR2_uc002yre.2_Silent_p.L95L|IFNAR2_uc002yrf.2_Silent_p.L95L|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	95	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34619165	34619165	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34619165T>C	uc002yrd.2	+	5	692	c.364T>C	c.(364-366)TGC>CGC	p.C122R	IFNAR2_uc002yrb.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrc.2_Missense_Mutation_p.C122R|IFNAR2_uc002yre.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrf.2_Missense_Mutation_p.C122R|IFNAR2_uc002yrg.2_5'UTR|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	122	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IL10RB	3588	broad.mit.edu	37	21	34660535	34660535	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34660535C>T	uc002yrk.1	+	6	872	c.773C>T	c.(772-774)CCT>CTT	p.P258L	IL10RB_uc002yrl.1_Missense_Mutation_p.P260L	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	258	Cytoplasmic (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0																		---	---	---	---
TMEM50B	757	broad.mit.edu	37	21	34837700	34837700	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34837700T>C	uc002yrt.1	-	4	407	c.229A>G	c.(229-231)AAT>GAT	p.N77D	TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	77						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
GART	2618	broad.mit.edu	37	21	34897169	34897169	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34897169T>G	uc002yrx.2	-	11	1340	c.1205A>C	c.(1204-1206)GAA>GCA	p.E402A	GART_uc002yrz.2_Missense_Mutation_p.E402A|GART_uc010gmd.2_Missense_Mutation_p.E64A|GART_uc002yry.2_Missense_Mutation_p.E402A|GART_uc002ysa.2_Missense_Mutation_p.E402A	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	402					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
SON	6651	broad.mit.edu	37	21	34923142	34923142	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34923142G>A	uc002yse.1	+	3	1654	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	SON_uc002ysb.1_Silent_p.G535G|SON_uc002ysc.2_Silent_p.G535G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	535					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35247781	35247781	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35247781C>A	uc002yta.1	+	34	4565	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1428M|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1433					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4																		---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468693	35468693	+	Missense_Mutation	SNP	G	A	A	rs143365196		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35468693G>A	uc002yto.2	+	2	1708	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	399	Cytoplasmic (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2																		---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36081070	36081070	+	Silent	SNP	G	A	A	rs149133306	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36081070G>A	uc010gmt.1	+	5	1737	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	CLIC6_uc002yuf.1_Silent_p.A561A	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	579	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36206799	36206799	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36206799A>G	uc002yuh.2	-	4	2210	c.632T>C	c.(631-633)GTC>GCC	p.V211A	RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.V238A|RUNX1_uc010gmv.2_Missense_Mutation_p.V238A|RUNX1_uc002yuj.3_Missense_Mutation_p.V106A|RUNX1_uc002yuk.3_Missense_Mutation_p.V238A|RUNX1_uc002yul.1_Missense_Mutation_p.V3A|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.V238A|RUNX1_uc002yuo.1_Missense_Mutation_p.V211A	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	211	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---
MIR802	768219	broad.mit.edu	37	21	37093039	37093039	+	RNA	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37093039A>T	hsa-mir-802|MI0003906	+			c.27A>T			RUNX1_uc002yut.1_Intron																	0																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408405	37408405	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408405T>C	uc002yuw.1	-	10					SETD4_uc002yux.1_3'UTR|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_3'UTR	NM_017438	NP_059134			SET domain containing 4 isoform a											large_intestine(1)|ovary(1)	2																		---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37408417	37408417	+	Nonstop_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408417A>G	uc002yuw.1	-	10	2694	c.1321T>C	c.(1321-1323)TGA>CGA	p.*441R	SETD4_uc002yux.1_Nonstop_Mutation_p.*417R|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Nonstop_Mutation_p.*441R	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	441										large_intestine(1)|ovary(1)	2																		---	---	---	---
CBR3	874	broad.mit.edu	37	21	37507593	37507593	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37507593C>T	uc002yve.2	+	1	331	c.103C>T	c.(103-105)CTC>TTC	p.L35F	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	35						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0																		---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37717320	37717320	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37717320T>C	uc002yvi.2	+	8	1072	c.996T>C	c.(994-996)TGT>TGC	p.C332C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	332					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2																		---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37781130	37781130	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37781130T>C	uc002yvj.2	+	9	965	c.827_splice	c.e9+2	p.R276_splice		NM_005441	NP_005432			chromatin assembly factor 1 subunit B						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2																		---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309119	38309119	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38309119G>A	uc010gnb.2	-	4	1827	c.626C>T	c.(625-627)CCG>CTG	p.P209L	HLCS_uc002yvs.2_Missense_Mutation_p.P209L|HLCS_uc010gnc.1_Missense_Mutation_p.P356L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	209					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)													---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38460521	38460521	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38460521T>C	uc002yvz.2	+	4	318	c.213T>C	c.(211-213)TGT>TGC	p.C71C	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.C71C|TTC3_uc002ywb.2_Silent_p.C71C|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.C71C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	71					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38538826	38538826	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38538826A>G	uc002yvz.2	+	33	4415	c.4310A>G	c.(4309-4311)CAC>CGC	p.H1437R	TTC3_uc011aee.1_Missense_Mutation_p.H1127R|TTC3_uc002ywa.2_Missense_Mutation_p.H1437R|TTC3_uc002ywb.2_Missense_Mutation_p.H1437R|TTC3_uc010gnf.2_Missense_Mutation_p.H1202R|TTC3_uc002ywc.2_Missense_Mutation_p.H1127R|TTC3_uc002ywd.1_Missense_Mutation_p.H501R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1437					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38570308	38570308	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38570308A>T	uc002yvz.2	+	44	5937	c.5832A>T	c.(5830-5832)GAA>GAT	p.E1944D	TTC3_uc002ywa.2_Missense_Mutation_p.E1944D|TTC3_uc002ywb.2_Missense_Mutation_p.E1944D|TTC3_uc010gnf.2_Missense_Mutation_p.E1709D|TTC3_uc002ywc.2_Missense_Mutation_p.E1634D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1944					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
DSCR9	257203	broad.mit.edu	37	21	38593691	38593691	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38593691G>A	uc010gnk.2	+	1		c.803G>A								Homo sapiens mRNA, complete cds.												0																		---	---	---	---
DSCR4	10281	broad.mit.edu	37	21	39427037	39427037	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39427037A>C	uc002ywp.2	-	3	374	c.269T>G	c.(268-270)ATT>AGT	p.I90S		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	90										ovary(1)	1																		---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671242	39671242	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39671242C>T	uc002ywv.2	+	4	361	c.59C>T	c.(58-60)GCT>GTT	p.A20V	KCNJ15_uc002yww.2_Missense_Mutation_p.A20V|KCNJ15_uc002ywx.2_Missense_Mutation_p.A20V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	20	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	40250774	40250774	+	IGR	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40250774C>A								ETS2 (53898 upstream) : PSMG1 (296616 downstream)																																			---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40642230	40642230	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40642230T>A	uc002yxk.1	-	14	1513	c.1374A>T	c.(1372-1374)GGA>GGT	p.G458G	BRWD1_uc002yxl.2_Silent_p.G458G|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Silent_p.G178G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	458	WD 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40670420	40670420	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40670420C>G	uc002yxk.1	-	5	426	c.287G>C	c.(286-288)AGT>ACT	p.S96T	BRWD1_uc002yxl.2_Missense_Mutation_p.S96T|BRWD1_uc002yxm.2_Missense_Mutation_p.S96T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41137591	41137591	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41137591T>C	uc002yyo.2	+	3	333	c.230T>C	c.(229-231)GTG>GCG	p.V77A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	77	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41452117	41452117	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41452117C>T	uc002yyq.1	-	25	4834	c.4382G>A	c.(4381-4383)CGC>CAC	p.R1461H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1461	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41648131	41648131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41648131G>A	uc002yyq.1	-	11	2701	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	750	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
MX2	4600	broad.mit.edu	37	21	42780168	42780168	+	3'UTR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42780168C>T	uc002yzf.1	+	14					MX2_uc002yzg.1_3'UTR|MX2_uc010gop.1_3'UTR	NM_002463	NP_002454			myxovirus resistance protein 2						response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)																---	---	---	---
MX1	4599	broad.mit.edu	37	21	42804080	42804080	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42804080T>C	uc002yzh.2	+	7	1030	c.83T>C	c.(82-84)GTG>GCG	p.V28A	MX1_uc002yzi.2_Missense_Mutation_p.V28A|MX1_uc010goq.2_Missense_Mutation_p.V28A	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	28					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)																---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43412166	43412166	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43412166C>T	uc002zab.3	-	3	2253	c.2039G>A	c.(2038-2040)CGC>CAC	p.R680H	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.R680H|ZNF295_uc002zaa.3_Missense_Mutation_p.R680H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	680	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43413493	43413493	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43413493T>C	uc002zab.3	-	3	926	c.712A>G	c.(712-714)AAT>GAT	p.N238D	ZNF295_uc002yzz.3_Missense_Mutation_p.N238D|ZNF295_uc002yzy.3_Missense_Mutation_p.N238D|ZNF295_uc002zaa.3_Missense_Mutation_p.N238D|ZNF295_uc010gov.1_Missense_Mutation_p.N238D|ZNF295_uc002zac.2_Missense_Mutation_p.N238D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	238					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43496156	43496156	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43496156G>A	uc002zaf.1	+	2	119	c.119G>A	c.(118-120)CGT>CAT	p.R40H	UMODL1_uc002zad.1_Translation_Start_Site|UMODL1_uc002zae.1_Translation_Start_Site|UMODL1_uc002zag.1_Missense_Mutation_p.R40H|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	40	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43704740	43704740	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43704740A>G	uc002zaq.2	+	7	911	c.805A>G	c.(805-807)ATC>GTC	p.I269V	ABCG1_uc002zan.2_Missense_Mutation_p.I271V|ABCG1_uc002zam.2_Missense_Mutation_p.I247V|ABCG1_uc002zao.2_Missense_Mutation_p.I266V|ABCG1_uc002zap.2_Missense_Mutation_p.I269V|ABCG1_uc002zar.2_Missense_Mutation_p.I280V|ABCG1_uc011aev.1_Missense_Mutation_p.I280V|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	269	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43979141	43979141	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43979141C>A	uc002zbi.2	+	12	1335	c.923C>A	c.(922-924)CCC>CAC	p.P308H	SLC37A1_uc002zbj.2_Missense_Mutation_p.P308H	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	308	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0																		---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44117604	44117604	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44117604A>C	uc002zbm.2	+						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597			phosphodiesterase 9A isoform a						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44270183	44270183	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44270183C>T	uc002zci.2	-	11	1288	c.1215G>A	c.(1213-1215)CCG>CCA	p.P405P	WDR4_uc002zck.1_Silent_p.P405P|WDR4_uc002zcl.1_Silent_p.P259P|WDR4_uc010gpg.1_Silent_p.P404P|WDR4_uc011aew.1_Silent_p.P259P|WDR4_uc010gph.1_Silent_p.P259P	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	405					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44273682	44273682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44273682C>T	uc002zci.2	-	9	1045	c.972G>A	c.(970-972)TGG>TGA	p.W324*	WDR4_uc002zck.1_Nonsense_Mutation_p.W324*|WDR4_uc002zcl.1_Nonsense_Mutation_p.W178*|WDR4_uc010gpg.1_Nonsense_Mutation_p.W323*|WDR4_uc011aew.1_Nonsense_Mutation_p.W178*|WDR4_uc010gph.1_Nonsense_Mutation_p.W178*	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	324	WD 4.				tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)														---	---	---	---
CBS	875	broad.mit.edu	37	21	44482463	44482463	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44482463T>C	uc002zcu.2	-	11	1242	c.997A>G	c.(997-999)ACC>GCC	p.T333A	CBS_uc002zcs.1_Missense_Mutation_p.T228A|CBS_uc002zct.2_Missense_Mutation_p.T333A|CBS_uc002zcw.3_Missense_Mutation_p.T333A|CBS_uc002zcv.2_Missense_Mutation_p.T333A|CBS_uc002zcx.2_5'Flank	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	333					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)													---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44515553	44515553	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44515553C>T	uc002zda.1	-	5	427	c.343G>A	c.(343-345)GTC>ATC	p.V115I	U2AF1_uc002zcy.1_Missense_Mutation_p.V42I|U2AF1_uc002zcz.1_Missense_Mutation_p.V42I|U2AF1_uc002zdb.1_Missense_Mutation_p.V115I|U2AF1_uc010gpi.1_Missense_Mutation_p.V115I	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	115	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45502855	45502855	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45502855G>A	uc002zea.2	+	14	2079	c.1910G>A	c.(1909-1911)AGC>AAC	p.S637N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S348N|TRAPPC10_uc011afa.1_Missense_Mutation_p.S56N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	637					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
DNMT3L	29947	broad.mit.edu	37	21	45668961	45668961	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45668961C>T	uc002zeg.1	-	11	1427	c.943G>A	c.(943-945)GGA>AGA	p.G315R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G315R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	315					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)														---	---	---	---
C21orf29	54084	broad.mit.edu	37	21	45941774	45941774	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45941774A>T	uc002zfe.1	-	9	1624	c.1558T>A	c.(1558-1560)TCC>ACC	p.S520T	C21orf29_uc010gpv.1_Missense_Mutation_p.S452T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	520	EAR 5.				cell adhesion	extracellular region	structural molecule activity				0																		---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959687	45959687	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45959687T>G	uc002zfh.1	-	1	392	c.347A>C	c.(346-348)AAG>ACG	p.K116T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	116	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1																		---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276138	46276138	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46276138C>T	uc002zgb.1	-	4	629	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	PTTG1IP_uc011afj.1_RNA|PTTG1IP_uc011afk.1_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	pituitary tumor-transforming gene 1	140	Potential.|Cytoplasmic (Potential).				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)	1				Colorectal(79;0.0659)														---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46698095	46698095	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46698095A>G	uc002zhc.2	-						POFUT2_uc002zha.2_5'Flank|POFUT2_uc002zhb.2_Intron|POFUT2_uc002zhd.2_Intron	NM_133635	NP_598368			protein O-fucosyltransferase 2 isoform C						fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46888239	46888239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46888239G>A	uc011afs.1	+	2	1456	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	COL18A1_uc002zhg.2_Missense_Mutation_p.V64I|COL18A1_uc002zhi.2_Missense_Mutation_p.V244I	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	479	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925753	46925753	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46925753T>G	uc011afs.1	+	37	4346	c.4325T>G	c.(4324-4326)GTG>GGG	p.V1442G	COL18A1_uc002zhg.2_Missense_Mutation_p.V1027G|COL18A1_uc002zhi.2_Missense_Mutation_p.V1207G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.V8G|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1445	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360012	47360012	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360012G>A	uc002zhq.1	+	13	1103	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	PCBP3_uc002zhp.1_Silent_p.Q306Q|PCBP3_uc002zhs.1_Silent_p.Q300Q|PCBP3_uc002zhr.1_Silent_p.Q325Q|PCBP3_uc002zht.1_Silent_p.Q316Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	326	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47360061	47360061	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47360061A>G	uc002zhq.1	+	13	1152	c.1027A>G	c.(1027-1029)ATC>GTC	p.I343V	PCBP3_uc002zhp.1_Missense_Mutation_p.I323V|PCBP3_uc002zhs.1_Missense_Mutation_p.I317V|PCBP3_uc002zhr.1_Missense_Mutation_p.I342V|PCBP3_uc002zht.1_Missense_Mutation_p.I333V	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	343	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47402687	47402687	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47402687A>G	uc002zhu.1	+							NM_001848	NP_001839			collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423316	47423316	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423316T>C	uc002zhu.1	+	35	2578	c.2476T>C	c.(2476-2478)TCC>CCC	p.S826P	COL6A1_uc010gqd.1_Missense_Mutation_p.S157P|COL6A1_uc002zhv.1_Missense_Mutation_p.S157P|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	826	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423435	47423435	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423435G>A	uc002zhu.1	+	35	2697	c.2595G>A	c.(2593-2595)ACG>ACA	p.T865T	COL6A1_uc010gqd.1_Silent_p.T196T|COL6A1_uc002zhv.1_Silent_p.T196T|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	865	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47545929	47545929	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47545929C>T	uc002zia.1	+	26	2282	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C	COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	734	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
LSS	4047	broad.mit.edu	37	21	47611134	47611134	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47611134C>T	uc002zij.2	-	22	2162	c.2083G>A	c.(2083-2085)GTC>ATC	p.V695I	LSS_uc011afv.1_Missense_Mutation_p.V684I|LSS_uc002zil.2_Missense_Mutation_p.V695I|LSS_uc002zik.2_Missense_Mutation_p.V615I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	695					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47625811	47625811	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47625811C>T	uc002zij.2	-	17	1688	c.1609G>A	c.(1609-1611)GTG>ATG	p.V537M	LSS_uc011afv.1_Missense_Mutation_p.V526M|LSS_uc002zil.2_Missense_Mutation_p.V537M|LSS_uc002zik.2_Missense_Mutation_p.V457M	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	537					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)																	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47975893	47975893	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47975893A>G	uc002zjo.2	+	29	3572	c.3389_splice	c.e29-2	p.D1130_splice	DIP2A_uc011afy.1_Splice_Site_p.D1066_splice|DIP2A_uc011afz.1_Splice_Site_p.D1126_splice|DIP2A_uc002zjr.2_Splice_Site_p.D97_splice	NM_015151	NP_055966			disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---
PRMT2	3275	broad.mit.edu	37	21	48064237	48064237	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:48064237A>G	uc002zjx.2	+	5	478	c.164A>G	c.(163-165)GAA>GGA	p.E55G	PRMT2_uc002zjw.2_Missense_Mutation_p.E55G|PRMT2_uc002zjy.2_Missense_Mutation_p.E55G|PRMT2_uc010gqm.2_Missense_Mutation_p.E55G|PRMT2_uc011aga.1_Missense_Mutation_p.E55G|PRMT2_uc011agb.1_Missense_Mutation_p.E55G|PRMT2_uc011agc.1_Missense_Mutation_p.E55G|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	55	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)														---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17449187	17449187	+	Splice_Site	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17449187C>T	uc002zlw.2	-	5	1131	c.1023_splice	c.e5+1	p.L341_splice	GAB4_uc010gqs.1_Splice_Site	NM_001037814	NP_001032903			GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)																---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17581299	17581299	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17581299A>G	uc002zly.2	+	5	611	c.478A>G	c.(478-480)ACC>GCC	p.T160A	IL17RA_uc010gqt.2_Missense_Mutation_p.T160A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	160	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17589268	17589268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17589268G>A	uc002zly.2	+	13	1292	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	IL17RA_uc010gqt.2_Missense_Mutation_p.D335N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	387	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17621952	17621952	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17621952G>A	uc002zmf.2	-	6	771	c.743C>T	c.(742-744)CCC>CTC	p.P248L	CECR5_uc002zmd.2_Missense_Mutation_p.P59L|CECR5_uc002zme.2_Missense_Mutation_p.P40L|CECR5_uc002zmg.2_Missense_Mutation_p.P111L|CECR5_uc002zmh.2_Missense_Mutation_p.P218L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	248							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)																---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18171803	18171803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18171803C>T	uc002zmw.2	+	4	499	c.281C>T	c.(280-282)GCC>GTC	p.A94V	BCL2L13_uc002zmu.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmv.2_Missense_Mutation_p.A94V|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Missense_Mutation_p.A94V|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	94					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18209815	18209815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18209815G>A	uc002zmw.2	+	7	1191	c.973G>A	c.(973-975)GCT>ACT	p.A325T	BCL2L13_uc002zmx.2_Missense_Mutation_p.A163T|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.A163T|BCL2L13_uc011agk.1_Missense_Mutation_p.A201T|BCL2L13_uc010gqz.2_Missense_Mutation_p.A45T|BCL2L13_uc002zmz.2_Missense_Mutation_p.A163T|BCL2L13_uc002zna.2_Missense_Mutation_p.A45T	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	325	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18304816	18304816	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18304816G>A	uc002zng.3	-	24	3781	c.3428C>T	c.(3427-3429)TCA>TTA	p.S1143L	MICAL3_uc011agl.1_Missense_Mutation_p.S1059L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1143	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18387532	18387532	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18387532A>C	uc002zng.3	-	3	691	c.338T>G	c.(337-339)GTT>GGT	p.V113G	MICAL3_uc011agl.1_Missense_Mutation_p.V113G|MICAL3_uc002znh.2_Missense_Mutation_p.V113G|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V113G|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.V113G|MICAL3_uc011agm.1_Missense_Mutation_p.V113G	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19341549	19341549	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19341549G>A	uc002zpf.1	-	22	2874	c.2654C>T	c.(2653-2655)CCG>CTG	p.P885L	HIRA_uc011agx.1_Missense_Mutation_p.P751L|HIRA_uc010grn.1_Missense_Mutation_p.P678L|HIRA_uc010gro.1_Missense_Mutation_p.P841L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	885	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)																	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19898959	19898959	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19898959G>T	uc011ahc.1	-	8	636	c.603C>A	c.(601-603)GCC>GCA	p.A201A	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.A200A|TXNRD2_uc010grv.1_Silent_p.A201A|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.A169A	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	201					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)																	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19960547	19960547	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19960547G>A	uc002zqz.2	-	15	2722	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	ARVCF_uc002zqy.2_Silent_p.R333R	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	817	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20760242	20760242	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20760242G>A	uc010gsm.2	+	6	1131	c.919G>A	c.(919-921)GGC>AGC	p.G307S	ZNF74_uc002zsg.2_Missense_Mutation_p.G236S|ZNF74_uc002zsh.2_Missense_Mutation_p.G307S|ZNF74_uc002zsi.2_Missense_Mutation_p.G236S|ZNF74_uc010gsn.2_Missense_Mutation_p.G236S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	307	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800921	20800921	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800921T>C	uc002zsl.1	-	6	1457	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	KLHL22_uc011ahr.1_Missense_Mutation_p.I307V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	450	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800941	20800941	+	Missense_Mutation	SNP	G	A	A	rs147687020	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800941G>A	uc002zsl.1	-	6	1437	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	KLHL22_uc011ahr.1_Missense_Mutation_p.T300M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	443	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21156280	21156280	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21156280C>T	uc002zsz.3	-	14	1762	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	PI4KA_uc010gsq.1_Missense_Mutation_p.A569T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	511					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288079	21288079	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21288079A>T	uc002ztf.2	+	2	833	c.324A>T	c.(322-324)CCA>CCT	p.P108P	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	108					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)															---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384141	21384141	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21384141G>A	uc002zud.2	-	3	1550	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	SLC7A4_uc002zue.2_Silent_p.C494C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	494	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800343	21800343	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21800343C>G	uc002zur.3	+	3	1389	c.1159C>G	c.(1159-1161)CCC>GCC	p.P387A	HIC2_uc002zus.3_Missense_Mutation_p.P387A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	387					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)																---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21991211	21991211	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21991211T>C	uc002zve.2	+	5	1787	c.1694T>C	c.(1693-1695)ATG>ACG	p.M565T		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|skin(1)	2	Colorectal(54;0.105)																	---	---	---	---
PPM1F	9647	broad.mit.edu	37	22	22277457	22277457	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22277457G>A	uc002zvp.1	-	8					PPM1F_uc011aik.1_3'UTR	NM_014634	NP_055449			protein phosphatase 1F						apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22316889	22316889	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22316889G>A	uc002zvs.2	-	13	1872	c.1437C>T	c.(1435-1437)GGC>GGT	p.G479G	TOP3B_uc010gtm.1_Silent_p.G24G|TOP3B_uc002zvr.2_Silent_p.G204G|TOP3B_uc010gtl.2_Silent_p.G479G|TOP3B_uc002zvt.3_Silent_p.G479G	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	479					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)														---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22385665	22385665	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22385665G>A	uc011aim.1	+	2		c.145G>A			uc002zvu.2_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22677192	22677192	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22677192C>T	uc011aim.1	+	36		c.3232C>T			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22730655	22730655	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22730655T>C	uc011aim.1	+	44		c.4822T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22735512	22735512	+	RNA	SNP	G	T	T	rs61731360		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22735512G>T	uc011aim.1	+	46		c.5308G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	22786500	22786500	+	RNA	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22786500C>T	uc011aim.1	+	67		c.6683C>T								Parts of antibodies, mostly variable regions.												0																OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23011168	23011168	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23011168T>C	uc011aim.1	+	121		c.7854T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23264833	23264833	+	RNA	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23264833G>T	uc011aim.1	+	379		c.16654G>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438549	23438549	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23438549A>G	uc002zwu.1	+	2	1204	c.667A>G	c.(667-669)ATC>GTC	p.I223V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	223						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23465488	23465488	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23465488G>A	uc002zwu.1	+	3	1475	c.938G>A	c.(937-939)CGC>CAC	p.R313H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	313						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)														---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23495329	23495329	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23495329G>A	uc002zwv.1	+						RAB36_uc010gtw.1_Intron	NM_004914	NP_004905			RAB36, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
BCR	613	broad.mit.edu	37	22	23540529	23540529	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23540529T>C	uc002zww.2	+						BCR_uc002zwx.2_Intron	NM_004327	NP_004318			breakpoint cluster region isoform 1						regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12								T	ABL1| FGFR1|JAK2 	CML|ALL|AML								---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24143232	24143232	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24143232G>A	uc002zyb.2	+	4	671	c.464G>A	c.(463-465)CGC>CAC	p.R155H	SMARCB1_uc002zyg.2_Missense_Mutation_p.R155H|SMARCB1_uc011ajb.1_Missense_Mutation_p.R146H|SMARCB1_uc002zya.2_Missense_Mutation_p.R155H|SMARCB1_uc002zyc.2_Missense_Mutation_p.R146H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R146H|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	155	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)						D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24459471	24459471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24459471T>C	uc002zzi.1	+	14	1873	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	CABIN1_uc002zzj.1_Silent_p.P532P|CABIN1_uc002zzl.1_Silent_p.P582P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	582					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580778	24580778	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580778T>C	uc002zzn.1	+	5	696	c.652T>C	c.(652-654)TAC>CAC	p.Y218H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	218	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580867	24580867	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24580867T>C	uc002zzn.1	+	5	785	c.741T>C	c.(739-741)GGT>GGC	p.G247G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	247	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---
CYTSA	23384	broad.mit.edu	37	22	24717913	24717913	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24717913T>C	uc002zzw.2	+	5	1272	c.965T>C	c.(964-966)GTG>GCG	p.V322A	CYTSA_uc002zzv.3_Missense_Mutation_p.V322A|CYTSA_uc011ajq.1_Missense_Mutation_p.V322A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	322					cell cycle|cell division						0																		---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26070497	26070497	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26070497T>C	uc003abx.3	+	8	794	c.647_splice	c.e8+2	p.M216_splice	ADRBK2_uc010gux.2_Splice_Site_p.M216_splice|ADRBK2_uc003abw.2_Splice_Site_p.M103_splice|ADRBK2_uc003aby.3_Splice_Site	NM_005160	NP_005151			beta-adrenergic receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26219495	26219495	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26219495T>A	uc003abz.1	+	13	2795	c.2545T>A	c.(2545-2547)TTT>ATT	p.F849I	MYO18B_uc003aca.1_Missense_Mutation_p.F730I|MYO18B_uc010guy.1_Missense_Mutation_p.F730I|MYO18B_uc010guz.1_Missense_Mutation_p.F730I|MYO18B_uc011aka.1_Missense_Mutation_p.F3I|MYO18B_uc011akb.1_Missense_Mutation_p.F362I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	849	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26707780	26707780	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26707780C>A	uc003acb.2	+	8	1884	c.1728C>A	c.(1726-1728)AAC>AAA	p.N576K	SEZ6L_uc003acc.2_Missense_Mutation_p.N576K|SEZ6L_uc011akc.1_Missense_Mutation_p.N576K|SEZ6L_uc003acd.2_Missense_Mutation_p.N576K|SEZ6L_uc011akd.1_Missense_Mutation_p.N576K|SEZ6L_uc003ace.2_Missense_Mutation_p.N576K|SEZ6L_uc003acf.1_Missense_Mutation_p.N349K|SEZ6L_uc010gvc.1_Missense_Mutation_p.N349K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	576	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26860374	26860374	+	Missense_Mutation	SNP	C	T	T	rs143711674	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26860374C>T	uc003acl.2	-	11	1881	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	HPS4_uc003aci.2_Missense_Mutation_p.A403T|HPS4_uc003acj.2_Missense_Mutation_p.A272T|HPS4_uc003ack.2_Missense_Mutation_p.A199T|HPS4_uc003acn.2_Missense_Mutation_p.A254T|HPS4_uc010gvd.1_Missense_Mutation_p.A426T|HPS4_uc003ach.2_Missense_Mutation_p.A143T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	408					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														Hermansky-Pudlak_syndrome				---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28256181	28256181	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28256181G>T	uc003adk.2	-	9	659	c.583C>A	c.(583-585)CTG>ATG	p.L195M	PITPNB_uc011akh.1_Missense_Mutation_p.L197M|PITPNB_uc003adl.2_Missense_Mutation_p.L195M|PITPNB_uc011akg.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	195					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28293787	28293787	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28293787A>G	uc003adk.2	-	4	365	c.289_splice	c.e4+1	p.I97_splice	PITPNB_uc011akh.1_Splice_Site_p.I99_splice|PITPNB_uc003adl.2_Splice_Site_p.I97_splice	NM_012399	NP_036531			phosphatidylinositol transfer protein, beta						lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29141962	29141962	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29141962A>G	uc003aea.2	+	4	575	c.534A>G	c.(532-534)GAA>GAG	p.E178E		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	178					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1																		---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29193152	29193152	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29193152T>C	uc011akl.1	-	3	414	c.366A>G	c.(364-366)AAA>AAG	p.K122K	XBP1_uc003aec.2_5'Flank|XBP1_uc003aed.2_Silent_p.K72K|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	122	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445922	29445922	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29445922A>G	uc003aeg.2	+	8	1618	c.1453A>G	c.(1453-1455)ACC>GCC	p.T485A	ZNRF3_uc003aeh.1_Missense_Mutation_p.T485A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	585	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29534823	29534823	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29534823T>C	uc011akm.1	+	7	1187	c.1174_splice	c.e7+2	p.G392_splice	KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Splice_Site_p.G275_splice	NM_032045	NP_114434			kringle-containing transmembrane protein 1						cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5																		---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29683072	29683072	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29683072A>G	uc003aet.2	+	7	1070	c.742A>G	c.(742-744)AGC>GGC	p.S248G	EWSR1_uc003aes.3_Missense_Mutation_p.S248G|EWSR1_uc003aev.2_Missense_Mutation_p.S254G|EWSR1_uc003aew.2_Missense_Mutation_p.S192G|EWSR1_uc003aex.2_Missense_Mutation_p.S248G|EWSR1_uc003aey.2_Missense_Mutation_p.S43G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	248	28.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254								T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29735105	29735105	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29735105G>A	uc003afj.2	-	16	2221	c.2037C>T	c.(2035-2037)TTC>TTT	p.F679F	AP1B1_uc003afi.2_Silent_p.F672F|AP1B1_uc003afk.2_Silent_p.F672F|AP1B1_uc003afl.2_Silent_p.F672F|AP1B1_uc011ako.1_Silent_p.F232F	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	679	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29921862	29921862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29921862T>C	uc003afr.2	-	13	1475	c.1140A>G	c.(1138-1140)ACA>ACG	p.T380T	THOC5_uc003afq.2_Silent_p.T41T|THOC5_uc003afs.2_Silent_p.T380T|THOC5_uc003aft.2_Silent_p.T380T|THOC5_uc003afu.2_Silent_p.T380T|THOC5_uc010gvo.2_Silent_p.T124T	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	380			T -> K (in a breast cancer sample; somatic mutation).		intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	p.T380K(1)		breast(3)	3																		---	---	---	---
NIPSNAP1	8508	broad.mit.edu	37	22	29957621	29957621	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29957621G>C	uc003afx.3	-	6	526	c.453C>G	c.(451-453)TTC>TTG	p.F151L	NIPSNAP1_uc011akp.1_Missense_Mutation_p.F131L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	151								p.?(1)		skin(1)	1																		---	---	---	---
NF2	4771	broad.mit.edu	37	22	30038225	30038225	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30038225G>A	uc003age.3	+	4	841	c.398G>A	c.(397-399)TGC>TAC	p.C133Y	NF2_uc003afy.3_Missense_Mutation_p.C133Y|NF2_uc003afz.3_Missense_Mutation_p.C50Y|NF2_uc003agf.3_Missense_Mutation_p.C133Y|NF2_uc003agb.3_Missense_Mutation_p.C56Y|NF2_uc003agc.3_Missense_Mutation_p.C95Y|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.C133Y|NF2_uc003aga.3_Missense_Mutation_p.C91Y|NF2_uc003agh.3_Missense_Mutation_p.C92Y|NF2_uc003agi.3_Missense_Mutation_p.C50Y|NF2_uc003agj.3_Missense_Mutation_p.C133Y|NF2_uc003agk.3_Missense_Mutation_p.C95Y	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	133	FERM.		C -> R (in NF2).		actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.L127_D382del(1)|p.L127_P134del(1)|p.K123fs*2(1)|p.V110_L141del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728								D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185132	30185132	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30185132C>T	uc003agr.2	-	20	2249	c.2144G>A	c.(2143-2145)CGA>CAA	p.R715Q	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R715Q|ASCC2_uc011akr.1_Missense_Mutation_p.R639Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)															---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691001	30691001	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30691001G>A	uc011akt.1	-	5	592	c.568C>T	c.(568-570)CGG>TGG	p.R190W	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.R48W|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R102W|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R197W|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R190W	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	190	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30730630	30730630	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30730630C>T	uc003ahl.2	-	16	2467	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	779	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30738209	30738209	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30738209T>C	uc003ahl.2	-	6	989	c.857A>G	c.(856-858)GAC>GGC	p.D286G		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	286					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30781958	30781958	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30781958C>T	uc003ahp.2	-	4	522	c.522G>A	c.(520-522)CTG>CTA	p.L174L	RNF215_uc011akw.1_Silent_p.L79L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	174	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31091460	31091460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31091460G>A	uc003aiy.1	+	1	668	c.564G>A	c.(562-564)TGG>TGA	p.W188*	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Nonsense_Mutation_p.W188*|OSBP2_uc011alb.1_Nonsense_Mutation_p.W188*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.W188*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	188	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31285474	31285474	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31285474C>T	uc003aiy.1	+						OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Intron|OSBP2_uc003aja.1_Intron|OSBP2_uc011alc.1_Intron|OSBP2_uc003ajb.2_Intron|OSBP2_uc011ald.1_Intron|OSBP2_uc010gwd.1_Intron	NM_030758	NP_110385			oxysterol binding protein 2 isoform a						lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31328629	31328629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31328629C>T	uc003aje.1	-	24	3828	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	884							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31673000	31673000	+	Intron	SNP	C	T	T	rs12160336		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31673000C>T	uc003akh.2	+						LIMK2_uc003akg.2_Silent_p.D583D|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Silent_p.D645D|LIMK2_uc003akk.2_Intron|LIMK2_uc011aln.1_Intron	NM_005569	NP_005560			LIM domain kinase 2 isoform 2a							mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31998288	31998288	+	Intron	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31998288C>A	uc003ale.2	+						SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Intron|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468			spindle assembly associated Sfi1 homolog isoform						G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1																		---	---	---	---
YWHAH	7533	broad.mit.edu	37	22	32352260	32352260	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32352260A>G	uc003alz.2	+	2	463	c.222A>G	c.(220-222)GGA>GGG	p.G74G	YWHAH_uc010gwl.2_Silent_p.G4G|YWHAH_uc003ama.2_Silent_p.G4G|YWHAH_uc010gwm.2_Silent_p.G61G	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	74					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1																		---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32616895	32616895	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32616895A>C	uc003ami.2	-							NM_014227	NP_055042			solute carrier family 5 (low affinity glucose						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0																		---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33733731	33733731	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33733731A>G	uc003and.3	-	11	1767	c.1188T>C	c.(1186-1188)TTT>TTC	p.F396F	LARGE_uc011amd.1_Silent_p.F195F|LARGE_uc003ane.3_Silent_p.F396F|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.F328F|LARGE_uc011amf.1_Silent_p.F396F|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	396	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35804510	35804510	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35804510G>A	uc003anu.3	+	6	800	c.706G>A	c.(706-708)GTC>ATC	p.V236I	MCM5_uc010gwr.2_Missense_Mutation_p.V45I|MCM5_uc003anv.3_Missense_Mutation_p.V193I|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	236					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1																		---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35947862	35947862	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35947862A>G	uc003anx.2	+	3	789	c.584A>G	c.(583-585)GAG>GGG	p.E195G	RASD2_uc003any.2_Missense_Mutation_p.E195G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	195	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36054697	36054697	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36054697A>T	uc003aoe.2	+	3	380	c.86A>T	c.(85-87)GAG>GTG	p.E29V	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	29					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36055239	36055239	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36055239G>A	uc003aoe.2	+	3	922	c.628G>A	c.(628-630)GTC>ATC	p.V210I	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	210					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0																		---	---	---	---
RBM9	23543	broad.mit.edu	37	22	36140273	36140273	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36140273G>A	uc003aon.3	-	14	1447	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RBM9_uc003aog.3_Silent_p.Y351Y|RBM9_uc003aol.3_Silent_p.Y370Y|RBM9_uc003aoj.3_Silent_p.Y374Y|RBM9_uc003aok.3_Missense_Mutation_p.T358I|RBM9_uc003aoh.3_Missense_Mutation_p.T361I|RBM9_uc003aom.3_Silent_p.Y352Y|RBM9_uc010gwu.2_Missense_Mutation_p.T361I|RBM9_uc003aoo.3_Silent_p.Y444Y	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	384					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0																		---	---	---	---
APOL2	23780	broad.mit.edu	37	22	36624003	36624003	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36624003C>T	uc003aoz.2	-	5	797	c.461G>A	c.(460-462)GGT>GAT	p.G154D	APOL2_uc011amm.1_Missense_Mutation_p.G266D|APOL2_uc003apa.2_Missense_Mutation_p.G154D	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36692912	36692912	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36692912C>T	uc003apg.2	-	25	3480	c.3249G>A	c.(3247-3249)GAG>GAA	p.E1083E		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1083	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
FOXRED2	80020	broad.mit.edu	37	22	36902087	36902087	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36902087T>C	uc003apn.3	-	1	491	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y128C|FOXRED2_uc003app.3_Missense_Mutation_p.Y128C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	128					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2																		---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603822	37603822	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37603822T>C	uc003ara.2	-	2	83	c.21A>G	c.(19-21)TCA>TCG	p.S7S	SSTR3_uc003arb.2_Silent_p.S7S	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37695345	37695345	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37695345C>T	uc003arf.2	+	6	548	c.432C>T	c.(430-432)CTC>CTT	p.L144L	CYTH4_uc003are.2_Silent_p.L144L|CYTH4_uc011amw.1_Silent_p.L87L|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	144	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37707044	37707044	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37707044C>T	uc003arf.2	+	10	940	c.824C>T	c.(823-825)ACG>ATG	p.T275M	CYTH4_uc011amw.1_Missense_Mutation_p.T218M|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	275	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37708129	37708129	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37708129C>T	uc003arf.2	+	12	1142	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	CYTH4_uc011amw.1_Silent_p.D285D|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	342	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770240	37770240	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37770240A>G	uc003asq.3	-	3	2121	c.1335T>C	c.(1333-1335)GCT>GCC	p.A445A		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	445	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37771126	37771126	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37771126C>T	uc003asq.3	-	3	1235	c.449G>A	c.(448-450)TGC>TAC	p.C150Y		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	150	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)																	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38046210	38046210	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38046210C>T	uc003ati.2	+	15	1479	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.A489V|SH3BP1_uc003ath.1_Silent_p.G456G|SH3BP1_uc003atj.1_Silent_p.G392G|SH3BP1_uc003atk.1_Silent_p.G370G|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	456	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130983	38130983	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38130983A>G	uc003atr.2	+	9	4911	c.4640A>G	c.(4639-4641)TAC>TGC	p.Y1547C	TRIOBP_uc003atu.2_Missense_Mutation_p.Y1375C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1547					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)															OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38165151	38165151	+	Missense_Mutation	SNP	G	A	A	rs61729062		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38165151G>A	uc003atr.2	+	20	6963	c.6692G>A	c.(6691-6693)CGC>CAC	p.R2231H	TRIOBP_uc003atu.2_Missense_Mutation_p.R2059H|TRIOBP_uc003atw.2_Missense_Mutation_p.R518H|TRIOBP_uc003atx.1_Missense_Mutation_p.R114H|TRIOBP_uc010gxh.2_Missense_Mutation_p.R114H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2231	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38484913	38484913	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38484913C>T	uc003auw.2	-	10	1104	c.960G>A	c.(958-960)CCG>CCA	p.P320P	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38493074	38493074	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38493074G>A	uc003auw.2	-	7	721	c.577C>T	c.(577-579)CTA>TTA	p.L193L		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	193	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38524328	38524328	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38524328A>T	uc003auy.1	-	9	1432	c.1296T>A	c.(1294-1296)CAT>CAA	p.H432Q	PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.H432Q|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.H397Q	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	432					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)													---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38689315	38689315	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38689315G>A	uc003avj.2	-	10	1490	c.1229C>T	c.(1228-1230)CCA>CTA	p.P410L	CSNK1E_uc003avk.2_Missense_Mutation_p.P410L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.P410L|CSNK1E_uc003avn.1_Missense_Mutation_p.P94L|CSNK1E_uc003avo.2_Missense_Mutation_p.P410L	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	410					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)																	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38824086	38824086	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38824086G>A	uc003avs.1	-	2	149	c.52C>T	c.(52-54)CGC>TGC	p.R18C	KCNJ4_uc003avt.1_Missense_Mutation_p.R18C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	18	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)																	---	---	---	---
APOBEC3B	9582	broad.mit.edu	37	22	39382383	39382383	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39382383G>A	uc003awo.1	+	4	589	c.535G>A	c.(535-537)GCA>ACA	p.A179T	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.A179T|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	179					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)																	---	---	---	---
APOBEC3G	60489	broad.mit.edu	37	22	39482481	39482481	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39482481T>C	uc003awx.2	+	6	1275	c.933T>C	c.(931-933)ACT>ACC	p.T311T	APOBEC3G_uc003awy.2_Silent_p.T244T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	311					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)																	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39715086	39715086	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39715086T>A	uc003axi.2	-						RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_Intron|RPL3_uc011aoj.1_Intron|SNORD43_uc003axn.1_RNA	NM_000967	NP_000958			ribosomal protein L3 isoform a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39907986	39907986	+	Missense_Mutation	SNP	C	T	T	rs144526373		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39907986C>T	uc003axx.2	+	4	775	c.277C>T	c.(277-279)CGG>TGG	p.R93W	SMCR7L_uc003axw.2_Missense_Mutation_p.R93W|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	93						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39910325	39910325	+	Silent	SNP	G	A	A	rs142355530		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39910325G>A	uc003axx.2	+	6	1887	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	SMCR7L_uc003axw.2_Intron|SMCR7L_uc003axy.2_Silent_p.T285T	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	463						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)															OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40055777	40055777	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40055777T>C	uc003ayc.2	+	14	2524	c.2524T>C	c.(2524-2526)TTT>CTT	p.F842L	CACNA1I_uc003ayd.2_Missense_Mutation_p.F807L|CACNA1I_uc003aye.2_Missense_Mutation_p.F757L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F722L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	842	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40061520	40061520	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40061520C>T	uc003ayc.2	+	22	3869	c.3869C>T	c.(3868-3870)CCG>CTG	p.P1290L	CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255L|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205L|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1290	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40661413	40661413	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40661413A>T	uc011aor.1	+	5	1390	c.1179A>T	c.(1177-1179)GGA>GGT	p.G393G	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.G393G|TNRC6B_uc003ayo.2_Silent_p.G197G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	393					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40711435	40711435	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40711435A>G	uc011aor.1	+	20	5038	c.4827A>G	c.(4825-4827)AAA>AAG	p.K1609K	TNRC6B_uc003aym.2_Silent_p.K805K|TNRC6B_uc003ayn.3_Silent_p.K1499K|TNRC6B_uc003ayo.2_Silent_p.K1356K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1609					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
ADSL	158	broad.mit.edu	37	22	40746002	40746002	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40746002A>G	uc003ayp.3	+	2	379	c.320A>G	c.(319-321)CAC>CGC	p.H107R	ADSL_uc003ays.3_Missense_Mutation_p.H107R|ADSL_uc003ayq.3_Missense_Mutation_p.H107R|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H107R	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	107					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1																		---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077411	41077411	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41077411T>C	uc003ayz.2	+	2	1016	c.748T>C	c.(748-750)TAT>CAT	p.Y250H	MCHR1_uc003aza.2_Missense_Mutation_p.Y139H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	250	Helical; Name=4; (Potential).		Y -> H.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0																		---	---	---	---
ST13	6767	broad.mit.edu	37	22	41226881	41226881	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41226881A>T	uc003aze.2	-	9	904	c.761T>A	c.(760-762)GTT>GAT	p.V254D	ST13_uc011aow.1_Missense_Mutation_p.V244D	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	254							protein binding, bridging				0																		---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41645453	41645453	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41645453A>G	uc003azs.2	-	14	3045	c.1575T>C	c.(1573-1575)AGT>AGC	p.S525S	RANGAP1_uc003azt.2_Silent_p.S525S|RANGAP1_uc003azu.2_Silent_p.S525S|RANGAP1_uc003azr.2_Silent_p.S38S|RANGAP1_uc010gyk.2_Silent_p.S28S|RANGAP1_uc011aoz.1_Silent_p.S470S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	525	SUMO conjugation.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0																		---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41745258	41745258	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41745258C>T	uc003azw.2	+	16	2117	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	650	C3H1-type 2.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
TOB2	10766	broad.mit.edu	37	22	41833079	41833079	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41833079T>C	uc003azz.1	-	2	978	c.271A>G	c.(271-273)AGT>GGT	p.S91G		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	91					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42059831	42059831	+	3'UTR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42059831G>A	uc003bao.1	+	13					XRCC6_uc003bap.1_3'UTR|XRCC6_uc011apc.1_3'UTR|XRCC6_uc003baq.1_3'UTR|XRCC6_uc003bar.1_3'UTR|XRCC6_uc003bas.1_3'UTR	NM_001469	NP_001460			ATP-dependent DNA helicase II, 70 kDa subunit						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5													Direct_reversal_of_damage|NHEJ					---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262990	42262990	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42262990G>A	uc003bbi.2	+	2	413	c.244G>A	c.(244-246)GGA>AGA	p.G82R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	82	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42269866	42269866	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42269866T>C	uc003bbi.2	+	5	1101	c.932T>C	c.(931-933)GTG>GCG	p.V311A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	311	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42294789	42294789	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42294789C>T	uc003bbi.2	+						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_Intron|uc011api.1_5'Flank|MIR33A_hsa-mir-33a|MI0000091_5'Flank	NM_004599	NP_004590			sterol regulatory element-binding transcription						cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42609857	42609857	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42609857G>T	uc003bcj.1	-	1	1589	c.1455C>A	c.(1453-1455)ACC>ACA	p.T485T	TCF20_uc003bck.1_Silent_p.T485T|TCF20_uc003bnt.2_Silent_p.T485T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---
NFAM1	150372	broad.mit.edu	37	22	42807623	42807623	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0																		---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42969952	42969952	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42969952T>C	uc003bcr.2	+	12	938	c.836T>C	c.(835-837)TTT>TCT	p.F279S	SERHL2_uc010gyz.2_Missense_Mutation_p.F215S|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron|RRP7B_uc003bct.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	279						perinuclear region of cytoplasm|peroxisome	hydrolase activity				0																		---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43023656	43023656	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43023656T>A	uc003bcz.2	-	6	586	c.502A>T	c.(502-504)ATC>TTC	p.I168F	CYB5R3_uc010gzc.1_Missense_Mutation_p.I42F|CYB5R3_uc003bcw.2_Missense_Mutation_p.I158F|CYB5R3_uc011aps.1_Missense_Mutation_p.I201F|CYB5R3_uc003bcy.2_Missense_Mutation_p.I145F|CYB5R3_uc003bcx.2_Missense_Mutation_p.I145F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)													---	---	---	---
A4GALT	53947	broad.mit.edu	37	22	43089576	43089576	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43089576G>T	uc003bdb.2	-	3	643	c.382C>A	c.(382-384)CTG>ATG	p.L128M	A4GALT_uc010gzd.2_Missense_Mutation_p.L128M	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	128	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2																		---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43286998	43286998	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43286998G>A	uc010gzg.2	-	4	630	c.408C>T	c.(406-408)GAC>GAT	p.D136D	PACSIN2_uc003bdg.3_Silent_p.D136D|PACSIN2_uc003bde.3_Silent_p.D136D|PACSIN2_uc003bdf.3_Silent_p.D136D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	136					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)																---	---	---	---
MCAT	27349	broad.mit.edu	37	22	43533210	43533210	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43533210G>A	uc003bdl.1	-	3	655	c.606C>T	c.(604-606)TCC>TCT	p.S202S	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	202					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)														OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950910	43950910	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950910C>T	uc003bdy.1	-	27	3702	c.3487G>A	c.(3487-3489)GAC>AAC	p.D1163N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D1011N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D389N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950972	43950972	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950972G>A	uc003bdy.1	-	27	3640	c.3425C>T	c.(3424-3426)GCT>GTT	p.A1142V	EFCAB6_uc003bdz.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A990V|EFCAB6_uc010gzj.1_Missense_Mutation_p.A368V	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950974	43950974	+	Silent	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43950974T>G	uc003bdy.1	-	27	3638	c.3423A>C	c.(3421-3423)ACA>ACC	p.T1141T	EFCAB6_uc003bdz.1_Silent_p.T989T|EFCAB6_uc010gzi.1_Silent_p.T989T|EFCAB6_uc010gzj.1_Silent_p.T367T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
SAMM50	25813	broad.mit.edu	37	22	44373776	44373776	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44373776G>T	uc003bej.2	+	10	1071	c.874G>T	c.(874-876)GAT>TAT	p.D292Y	SAMM50_uc011aqd.1_Missense_Mutation_p.D82Y|SAMM50_uc003bek.2_Missense_Mutation_p.D97Y	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	292					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)																---	---	---	---
C22orf9	23313	broad.mit.edu	37	22	45598993	45598993	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45598993G>A	uc003bfx.1	-	7	796	c.730C>T	c.(730-732)CGC>TGC	p.R244C	C22orf9_uc010gzw.1_Missense_Mutation_p.R96C|C22orf9_uc003bfv.1_Missense_Mutation_p.R253C|C22orf9_uc003bfw.1_Missense_Mutation_p.R249C|C22orf9_uc010gzx.2_Missense_Mutation_p.R226C|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	244							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)														---	---	---	---
FAM118A	55007	broad.mit.edu	37	22	45728581	45728581	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45728581G>A	uc003bfz.3	+	7	1543	c.927G>A	c.(925-927)CAG>CAA	p.Q309Q	FAM118A_uc003bga.3_Silent_p.Q309Q|FAM118A_uc011aqr.1_Silent_p.Q127Q	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	309						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655545	46655545	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655545A>T	uc003bhh.2	-	1	3675	c.3675T>A	c.(3673-3675)GAT>GAA	p.D1225E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1225	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655740	46655740	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46655740C>A	uc003bhh.2	-	1	3480	c.3480G>T	c.(3478-3480)ATG>ATT	p.M1160I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1160	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46712215	46712215	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46712215T>C	uc011aqy.1	+	7	1550	c.1338T>C	c.(1336-1338)ACT>ACC	p.T446T	GTSE1_uc011aqz.1_Silent_p.T293T|GTSE1_uc003bhl.1_Silent_p.T71T|GTSE1_uc003bhm.1_Silent_p.T71T	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	427					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46719117	46719117	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46719117T>G	uc011aqy.1	+	8	1675	c.1463T>G	c.(1462-1464)CTT>CGT	p.L488R	GTSE1_uc011aqz.1_Missense_Mutation_p.L335R|GTSE1_uc003bhl.1_Missense_Mutation_p.L113R|GTSE1_uc003bhm.1_Missense_Mutation_p.L113R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	469					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46929687	46929687	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46929687G>T	uc003bhw.1	-	1	3381	c.3381C>A	c.(3379-3381)ATC>ATA	p.I1127I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1127	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47071445	47071445	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47071445A>G	uc003bhx.2	+	16	1598	c.1559A>G	c.(1558-1560)CAG>CGG	p.Q520R	GRAMD4_uc010had.2_Missense_Mutation_p.Q459R|GRAMD4_uc003bhy.2_Missense_Mutation_p.Q43R	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	520	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)														---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086049	47086049	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47086049T>C	uc003bia.2	-	12	1488	c.1381A>G	c.(1381-1383)ACG>GCG	p.T461A	CERK_uc010hae.2_Missense_Mutation_p.T263A	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	461					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47189568	47189568	+	Missense_Mutation	SNP	C	T	T	rs141580250	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47189568C>T	uc003bib.2	+	3	425	c.290C>T	c.(289-291)ACG>ATG	p.T97M	TBC1D22A_uc010haf.2_Missense_Mutation_p.T67M|TBC1D22A_uc003bic.2_Missense_Mutation_p.T97M|TBC1D22A_uc003bie.2_Missense_Mutation_p.T78M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T50M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	97						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47507445	47507445	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47507445C>T	uc003bib.2	+	12	1506	c.1371C>T	c.(1369-1371)TGC>TGT	p.C457C	TBC1D22A_uc010haf.2_Silent_p.C427C|TBC1D22A_uc003bic.2_Silent_p.C398C|TBC1D22A_uc003bie.2_Silent_p.C379C|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.C410C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	457						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)														---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50280486	50280486	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50280486C>T	uc003bix.2	+	2	3646	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1059						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50298028	50298028	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50298028G>A	uc003biy.2	-	8	1393	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	373					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50313888	50313888	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50313888C>T	uc003bja.2	+	4	543	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Silent_p.D136D|CRELD2_uc010haj.2_Silent_p.D136D|CRELD2_uc010hal.2_Silent_p.D136D|CRELD2_uc010hak.2_Silent_p.D136D|CRELD2_uc010ham.2_Silent_p.D136D	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	136	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50437776	50437776	+	Splice_Site	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50437776T>G	uc003bje.1	-	9	779	c.547_splice	c.e9-1	p.G183_splice		NM_001001694	NP_001001694			interleukin 17 receptor E-like											pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50599130	50599130	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50599130A>G	uc003bjj.2	+	25	3421	c.3338A>G	c.(3337-3339)GAA>GGA	p.E1113G	MOV10L1_uc003bjk.3_Intron|MOV10L1_uc011arp.1_Missense_Mutation_p.E1093G|MOV10L1_uc003bjl.2_Missense_Mutation_p.E240G	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1113					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50693732	50693732	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50693732C>T	uc003bkm.1	-	11	1069	c.918G>A	c.(916-918)CTG>CTA	p.L306L	MAPK12_uc003bkn.2_Silent_p.L125L|MAPK12_uc003bko.2_Silent_p.L216L|MAPK12_uc003bkl.1_Silent_p.L296L|MAPK12_uc003bkp.2_Silent_p.L91L|MAPK12_uc003bkq.2_Silent_p.L125L	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	306	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50722592	50722592	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50722592A>G	uc003bkv.3	-	13	2338	c.2232T>C	c.(2230-2232)TCT>TCC	p.S744S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	744	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
SAPS2	9701	broad.mit.edu	37	22	50878428	50878428	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50878428C>T	uc003blb.1	+	22	2746	c.2324C>T	c.(2323-2325)ACA>ATA	p.T775I	SAPS2_uc003bky.1_Missense_Mutation_p.T749I|SAPS2_uc003bkz.1_Missense_Mutation_p.T748I|SAPS2_uc003blc.2_Missense_Mutation_p.T775I|SAPS2_uc003bla.1_Missense_Mutation_p.T749I|SAPS2_uc003bld.1_Missense_Mutation_p.T308I	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	775						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)														---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50906356	50906356	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50906356C>T	uc003blh.2	-						SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Intron	NM_002972	NP_002963			SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PLCXD1	55344	broad.mit.edu	37	X	209792	209792	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:209792C>T	uc004cpc.2	+	6	952	c.640C>T	c.(640-642)CTG>TTG	p.L214L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	302119	302119	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:302119C>G	uc004cpg.2	-	9	1299	c.1098G>C	c.(1096-1098)GTG>GTC	p.V366V	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	366					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	306303	306303	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:306303C>T	uc004cpg.2	-	7	1185	c.984G>A	c.(982-984)ACG>ACA	p.T328T	PPP2R3B_uc011mha.1_Silent_p.T167T	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	328					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1428459	1428459	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1428459A>G	uc010nct.2	+	14					CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_3'UTR|CSF2RA_uc004cpo.2_3'UTR|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_3'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.I371V|CSF2RA_uc010ncv.2_3'UTR|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155001			colony stimulating factor 2 receptor alpha chain							extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1471268	1471268	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1471268G>A	uc004cps.2	+	6	834	c.485G>A	c.(484-486)CGT>CAT	p.R162H	IL3RA_uc011mhd.1_Missense_Mutation_p.R84H	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1505571G>A	uc004cpt.2	-	4	917	c.821C>T	c.(820-822)GCG>GTG	p.A274V	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	274	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)													---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1522303	1522303	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1522303G>A	uc004cpx.1	-	13	1836	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.N499N|ASMTL_uc004cpy.1_Silent_p.N559N|ASMTL_uc011mhf.1_Silent_p.N517N	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	575	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540689	1540689	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540689G>A	uc004cpx.1	-	9	1218	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	ASMTL_uc011mhe.1_Silent_p.G293G|ASMTL_uc004cpy.1_Silent_p.G353G|ASMTL_uc011mhf.1_Silent_p.G311G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	369	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1540734	1540734	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1540734A>G	uc004cpx.1	-	9	1173	c.1062T>C	c.(1060-1062)GGT>GGC	p.G354G	ASMTL_uc011mhe.1_Silent_p.G278G|ASMTL_uc004cpy.1_Silent_p.G338G|ASMTL_uc011mhf.1_Silent_p.G296G	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	354	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1553912	1553912	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1553912T>C	uc004cpx.1	-						ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Intron	NM_004192	NP_004183			acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584391	1584391	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1584391C>A	uc004cpz.2	-	2	1309	c.1061G>T	c.(1060-1062)AGG>ATG	p.R354M		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	354	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585104	1585104	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1585104A>G	uc004cpz.2	-	2	596	c.348T>C	c.(346-348)TGT>TGC	p.C116C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	116	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
SFRS17A	8227	broad.mit.edu	37	X	1712482	1712482	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1712482G>A	uc004cqa.2	+	2	323	c.127G>A	c.(127-129)GGG>AGG	p.G43R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G43R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	43					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2161159	2161159	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2161159C>T	uc004cqf.3	-	6	758	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	237							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408217	2408217	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408217C>T	uc004cqg.2	-	2	745	c.544G>A	c.(544-546)GAG>AAG	p.E182K	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E182K	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408366	2408366	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408366C>T	uc004cqg.2	-	2	596	c.395G>A	c.(394-396)GGC>GAC	p.G132D	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.G132D	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	132						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2856150	2856150	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2856150C>T	uc004crc.3	-	9	1525	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	ARSE_uc011mhi.1_Silent_p.E371E|ARSE_uc011mhh.1_Silent_p.E450E	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	425					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
ARSE	415	broad.mit.edu	37	X	2861128	2861128	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2861128A>T	uc004crc.3	-	8	1354	c.1104T>A	c.(1102-1104)GGT>GGA	p.G368G	ARSE_uc011mhi.1_Silent_p.G314G|ARSE_uc011mhh.1_Silent_p.G393G	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	368					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3229042	3229042	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3229042C>T	uc004crg.3	-	7	7359	c.7202G>A	c.(7201-7203)GGC>GAC	p.G2401D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2401	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239357	3239357	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239357T>C	uc004crg.3	-	5	4526	c.4369A>G	c.(4369-4371)ACC>GCC	p.T1457A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1457						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239946	3239946	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239946A>T	uc004crg.3	-	5	3937	c.3780T>A	c.(3778-3780)TCT>TCA	p.S1260S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1260						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240584	3240584	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3240584G>T	uc004crg.3	-	5	3299	c.3142C>A	c.(3142-3144)CTA>ATA	p.L1048I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1048						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811353	5811353	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811353G>T	uc010ndh.2	-	6	2457	c.1956C>A	c.(1954-1956)GAC>GAA	p.D652E	NLGN4X_uc004crp.2_Missense_Mutation_p.D672E|NLGN4X_uc004crq.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D689E|NLGN4X_uc004crr.2_Missense_Mutation_p.D652E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D652E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	652	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5827247	5827247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5827247C>T	uc010ndh.2	-	4	1160	c.659G>A	c.(658-660)GGC>GAC	p.G220D	NLGN4X_uc004crp.2_Missense_Mutation_p.G240D|NLGN4X_uc004crq.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G257D|NLGN4X_uc004crr.2_Missense_Mutation_p.G220D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G220D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	220	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10058909	10058909	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10058909C>T	uc004csx.3	+	6	674	c.476C>T	c.(475-477)ACA>ATA	p.T159I	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	159										ovary(4)	4																		---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10077876	10077876	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10077876G>A	uc004csx.3	+	9	988	c.790G>A	c.(790-792)GCC>ACC	p.A264T	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4																		---	---	---	---
MID1	4281	broad.mit.edu	37	X	10437780	10437780	+	Silent	SNP	G	A	A	rs142718564	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10437780G>A	uc004cte.3	-	7	1433	c.1242C>T	c.(1240-1242)TAC>TAT	p.Y414Y	MID1_uc004ctd.3_Silent_p.Y125Y|MID1_uc004ctg.3_Silent_p.Y414Y|MID1_uc004cth.3_Silent_p.Y376Y|MID1_uc004ctk.3_Silent_p.Y414Y|MID1_uc004cti.3_Silent_p.Y414Y|MID1_uc004ctj.3_Silent_p.Y414Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.Y465Y|MID1_uc004ctn.1_Silent_p.Y414Y|MID1_uc004cto.1_Silent_p.Y376Y|MID1_uc004csz.3_Silent_p.Y86Y|MID1_uc004cta.3_Silent_p.Y170Y|MID1_uc004ctb.3_Silent_p.Y74Y|MID1_uc004ctc.3_Silent_p.Y181Y|MID1_uc004ctl.1_Silent_p.Y170Y	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	414	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11157336	11157336	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11157336C>T	uc004cup.1	-	13	3445	c.2572G>A	c.(2572-2574)GGG>AGG	p.G858R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G655R|ARHGAP6_uc004cun.1_Missense_Mutation_p.G678R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	858					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12734369	12734369	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12734369A>G	uc004cuz.1	+	15	2297	c.1791A>G	c.(1789-1791)ATA>ATG	p.I597M	FRMPD4_uc011mij.1_Missense_Mutation_p.I589M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	597					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12736059	12736059	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12736059A>G	uc004cuz.1	+	16	3620	c.3114A>G	c.(3112-3114)GCA>GCG	p.A1038A	FRMPD4_uc011mij.1_Silent_p.A1030A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12903718	12903718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12903718C>T	uc004cvc.2	+	3	230	c.91C>T	c.(91-93)CCT>TCT	p.P31S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	31	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12904491	12904491	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12904491G>A	uc004cvc.2	+	3	1003	c.864G>A	c.(862-864)GCG>GCA	p.A288A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	288	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937960	12937960	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12937960C>T	uc004cve.2	+	2	869	c.801C>T	c.(799-801)TGC>TGT	p.C267C	TLR8_uc004cvd.2_Silent_p.C285C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	267	Extracellular (Potential).|LRR 6.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337200	13337200	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337200T>A	uc010ned.2	-	1	1319	c.854A>T	c.(853-855)GAC>GTC	p.D285V		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	285					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337424	13337424	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337424T>C	uc010ned.2	-	1	1095	c.630A>G	c.(628-630)GAA>GAG	p.E210E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	210					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13624572	13624572	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13624572T>C	uc004cvi.2	+	6	835	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	EGFL6_uc004cvj.2_Missense_Mutation_p.Y199H|EGFL6_uc011mik.1_Missense_Mutation_p.Y100H	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645222	13645222	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13645222A>C	uc004cvi.2	+	11	1618	c.1378A>C	c.(1378-1380)AGC>CGC	p.S460R	EGFL6_uc004cvj.2_Missense_Mutation_p.S461R	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	460	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13753379	13753379	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13753379A>G	uc004cvp.3	+	2	384	c.25A>G	c.(25-27)ACC>GCC	p.T9A	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.T8A|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.T8A|OFD1_uc004cvv.3_Missense_Mutation_p.T8A|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	9					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0																		---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14871245	14871245	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14871245A>C	uc004cwg.1	-	6	1510	c.1242T>G	c.(1240-1242)CTT>CTG	p.L414L	FANCB_uc004cwh.1_Silent_p.L414L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	414					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15270368	15270368	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15270368A>G	uc004cwl.2	-						ASB9_uc004cwk.2_Intron|ASB9_uc004cwm.2_Intron|ASB9_uc010ner.2_Intron|ASB9_uc004cwn.2_Intron	NM_001031739	NP_001026909			ankyrin repeat and SOCS box-containing 9 isoform						intracellular signal transduction						0	Hepatocellular(33;0.183)																	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15306011	15306011	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15306011A>G	uc004cwp.1	-	6	839	c.839T>C	c.(838-840)CTC>CCC	p.L280P	ASB11_uc004cwo.1_Missense_Mutation_p.L259P|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L263P	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	280	SOCS box.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15540632	15540632	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15540632G>A	uc004cww.2	+	7	862	c.674G>A	c.(673-675)GGC>GAC	p.G225D	BMX_uc004cwx.3_Missense_Mutation_p.G225D|BMX_uc004cwy.3_Missense_Mutation_p.G225D	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	225					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
BMX	660	broad.mit.edu	37	X	15560311	15560311	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15560311A>G	uc004cww.2	+	15	1789	c.1601A>G	c.(1600-1602)CAC>CGC	p.H534R	BMX_uc004cwx.3_Missense_Mutation_p.H534R|BMX_uc004cwy.3_Missense_Mutation_p.H534R	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	534	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)																	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16168543	16168543	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16168543G>A	uc004cxj.2	+	2	1182	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	177	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)																	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16709660	16709660	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16709660A>G	uc004cxk.2	-						CTPS2_uc004cxl.2_Intron|CTPS2_uc004cxm.2_Intron	NM_001144002	NP_001137474			cytidine triphosphate synthase II						glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)																	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16846369	16846369	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16846369T>C	uc004cxq.1	+	4	702	c.651T>C	c.(649-651)CGT>CGC	p.R217R	TXLNG_uc010ney.1_Silent_p.R85R	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	217	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16857989	16857989	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16857989C>T	uc004cxq.1	+	9	1249	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	TXLNG_uc010ney.1_Missense_Mutation_p.R268C	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	400	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17092287	17092287	+	Intron	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17092287T>G	uc004cxv.1	+						REPS2_uc004cxw.1_Intron|REPS2_uc011miw.1_Intron	NM_004726	NP_004717			RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17156996	17156996	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17156996A>G	uc004cxv.1	+	17	1997	c.1826A>G	c.(1825-1827)AAG>AGG	p.K609R	REPS2_uc004cxw.1_Missense_Mutation_p.K608R|REPS2_uc011miw.1_Missense_Mutation_p.K407R	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	609	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17742447	17742447	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17742447A>G	uc004cxx.2	+	5	1412	c.1074A>G	c.(1072-1074)ATA>ATG	p.I358M	NHS_uc011mix.1_Missense_Mutation_p.I379M|NHS_uc004cxy.2_Missense_Mutation_p.I202M|NHS_uc004cxz.2_Missense_Mutation_p.I181M|NHS_uc004cya.2_Missense_Mutation_p.I81M	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	358						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
SCML1	6322	broad.mit.edu	37	X	17768146	17768146	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17768146C>T	uc004cyb.2	+	6	761	c.436C>T	c.(436-438)CGT>TGT	p.R146C	SCML1_uc004cyc.2_Missense_Mutation_p.R119C|SCML1_uc004cyd.2_Missense_Mutation_p.R25C|SCML1_uc004cye.2_Missense_Mutation_p.R25C	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	146					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18213471	18213471	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18213471T>C	uc004cyj.3	-	7	1279	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18260691	18260691	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18260691T>C	uc004cyl.2	-	14	1999	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	614					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264788	18264788	+	Silent	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264788C>G	uc004cyl.2	-	13	1888	c.1731G>C	c.(1729-1731)GTG>GTC	p.V577V	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.V577V|SCML2_uc011miz.1_Silent_p.V511V|SCML2_uc010nfc.2_Silent_p.V313V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264789	18264789	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18264789A>G	uc004cyl.2	-	13	1887	c.1730T>C	c.(1729-1731)GTG>GCG	p.V577A	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.V577A|SCML2_uc011miz.1_Missense_Mutation_p.V511A|SCML2_uc010nfc.2_Missense_Mutation_p.V313A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	577					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)																	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18646626	18646626	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18646626C>T	uc004cym.2	+	18	2885	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S	CDKL5_uc004cyn.2_Missense_Mutation_p.P878S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	878					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)																	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18836180	18836180	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18836180C>A	uc004cyq.2	+	16	1899	c.1418C>A	c.(1417-1419)GCC>GAC	p.A473D	PPEF1_uc004cyp.2_Missense_Mutation_p.A445D|PPEF1_uc004cyr.2_Missense_Mutation_p.A411D|PPEF1_uc004cys.2_Missense_Mutation_p.A473D|PPEF1_uc011mja.1_Missense_Mutation_p.A408D|PPEF1_uc011mjb.1_Missense_Mutation_p.A417D	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	473					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18912463	18912463	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18912463C>T	uc004cyv.3	-	32	3826	c.3396G>A	c.(3394-3396)CCG>CCA	p.P1132P	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.P438P|PHKA2_uc010nfe.1_Silent_p.P164P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1132					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18961916	18961916	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18961916T>C	uc004cyv.3	-	7	1059	c.629A>G	c.(628-630)GAG>GGG	p.E210G	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	210					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19413307	19413307	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19413307C>T	uc004czk.1	-	17	2148	c.511G>A	c.(511-513)GAG>AAG	p.E171K	MAP3K15_uc004czj.1_Missense_Mutation_p.E131K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	696	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675116	21675116	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675116C>T	uc004czz.1	-	1	1333	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	264										ovary(1)	1																		---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675792	21675792	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21675792C>T	uc004czz.1	-	1	657	c.115G>A	c.(115-117)GAA>AAA	p.E39K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	39	BTB.									ovary(1)	1																		---	---	---	---
YY2	404281	broad.mit.edu	37	X	21863457	21863457	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21863457T>A	uc010nfq.2	+	3	590	c.393T>A	c.(391-393)TCT>TCA	p.S131S	MBTPS2_uc004dae.2_Silent_p.S131S|MBTPS2_uc004dab.2_Silent_p.S131S	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
SMS	6611	broad.mit.edu	37	X	21985316	21985316	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21985316G>A	uc004dag.2	+	2	153	c.52G>A	c.(52-54)GAT>AAT	p.D18N	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.D18N	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	18					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
SMS	6611	broad.mit.edu	37	X	22012435	22012435	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22012435T>C	uc004dag.2	+	11	1168	c.1067T>C	c.(1066-1068)GTA>GCA	p.V356A	SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Missense_Mutation_p.Y68H	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	356					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291585	22291585	+	Silent	SNP	G	A	A	rs144357703		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22291585G>A	uc004dai.1	+	1	526	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159						intracellular	zinc ion binding			lung(1)|pancreas(1)	2																		---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018527	23018527	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23018527G>A	uc004daj.2	+	1	441	c.353G>A	c.(352-354)AGC>AAC	p.S118N		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3																		---	---	---	---
APOO	79135	broad.mit.edu	37	X	23876803	23876803	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23876803C>T	uc004dax.2	-	6	667	c.436G>A	c.(436-438)GCT>ACT	p.A146T	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	146					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0																		---	---	---	---
CXorf58	254158	broad.mit.edu	37	X	23933870	23933870	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23933870G>T	uc004daz.1	+	4	614	c.270G>T	c.(268-270)AAG>AAT	p.K90N	CXorf58_uc011mju.1_Missense_Mutation_p.K90N	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	90											0																		---	---	---	---
KLHL15	80311	broad.mit.edu	37	X	24006408	24006408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24006408T>G	uc004dba.3	-	4	1701	c.1445A>C	c.(1444-1446)AAG>ACG	p.K482T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	482										ovary(1)|breast(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	24326403	24326403	+	IGR	SNP	T	C	C	rs112676860		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24326403T>C								ZFX (93776 upstream) : FAM48B2 (2577 downstream)																																			---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24521631	24521631	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24521631A>T	uc004dbg.2	+						PDK3_uc004dbh.2_Intron	NM_005391	NP_005382			pyruvate dehydrogenase kinase 3 isoform 2						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6																		---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24759545	24759545	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24759545T>C	uc004dbl.2	+	21	2275	c.2252T>C	c.(2251-2253)TTC>TCC	p.F751S		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	751					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)													---	---	---	---
Unknown	0	broad.mit.edu	37	X	26179730	26179730	+	IGR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179730A>G								MAGEB18 (20878 upstream) : MAGEB6 (30827 downstream)																																			---	---	---	---
MAGEB10	139422	broad.mit.edu	37	X	27840426	27840426	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:27840426C>T	uc004dbw.2	+	3	1230	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	335										lung(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
MAGEB3	4114	broad.mit.edu	37	X	30254423	30254423	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30254423A>T	uc004dca.1	+	5	1119	c.382A>T	c.(382-384)ATG>TTG	p.M128L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	128	MAGE.										0																		---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30322917	30322917	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30322917T>C	uc004dcf.3	-	2	1207	c.1192A>G	c.(1192-1194)AAG>GAG	p.K398E		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	398	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)													---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30327194	30327194	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30327194G>A	uc004dcf.3	-	1	302	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	96	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GK	2710	broad.mit.edu	37	X	30686200	30686200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30686200T>C	uc004dch.3	+	3	403	c.224T>C	c.(223-225)CTT>CCT	p.L75P	GK_uc010ngj.2_Missense_Mutation_p.L75P|GK_uc004dci.3_Missense_Mutation_p.L75P|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	75					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1																		---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30849565	30849565	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30849565G>A	uc004dcj.2	-	11	2781	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TAB3_uc004dck.2_Silent_p.C706C|TAB3_uc010ngl.2_Silent_p.C678C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	706	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31165402	31165402	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31165402A>G	uc004dda.1	-	75	11031	c.10787T>C	c.(10786-10788)CTG>CCG	p.L3596P	DMD_uc004dcq.1_Missense_Mutation_p.L867P|DMD_uc004dcr.1_Missense_Mutation_p.L1016P|DMD_uc004dcs.1_Missense_Mutation_p.L1026P|DMD_uc004dct.1_Missense_Mutation_p.L1136P|DMD_uc004dcu.1_Missense_Mutation_p.L1136P|DMD_uc004dcv.1_Missense_Mutation_p.L1123P|DMD_uc004dcw.2_Missense_Mutation_p.L2252P|DMD_uc004dcx.2_Missense_Mutation_p.L2255P|DMD_uc004dcz.2_Missense_Mutation_p.L3473P|DMD_uc004dcy.1_Missense_Mutation_p.L3592P|DMD_uc004ddb.1_Missense_Mutation_p.L3588P|DMD_uc004dcm.1_Missense_Mutation_p.L528P|DMD_uc004dcn.1_Missense_Mutation_p.L515P|DMD_uc004dco.1_Missense_Mutation_p.L528P|DMD_uc004dcp.1_Missense_Mutation_p.L515P|DMD_uc011mkb.1_Missense_Mutation_p.L418P	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3596					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	31196845	31196845	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31196845C>T	uc004dda.1	-	70	10408	c.10164G>A	c.(10162-10164)AAG>AAA	p.K3388K	DMD_uc004dcq.1_Silent_p.K659K|DMD_uc004dcr.1_Silent_p.K928K|DMD_uc004dcs.1_Silent_p.K928K|DMD_uc004dct.1_Silent_p.K928K|DMD_uc004dcu.1_Silent_p.K928K|DMD_uc004dcv.1_Silent_p.K928K|DMD_uc004dcw.2_Silent_p.K2044K|DMD_uc004dcx.2_Silent_p.K2047K|DMD_uc004dcz.2_Silent_p.K3265K|DMD_uc004dcy.1_Silent_p.K3384K|DMD_uc004ddb.1_Silent_p.K3380K|DMD_uc004dcm.1_Silent_p.K320K|DMD_uc004dcn.1_Silent_p.K320K|DMD_uc004dco.1_Silent_p.K320K|DMD_uc004dcp.1_Silent_p.K320K|DMD_uc011mkb.1_Silent_p.K320K|DMD_uc010ngm.2_Silent_p.K320K	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3388	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32398784	32398784	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32398784T>A	uc004dda.1	-	34	4932	c.4688A>T	c.(4687-4689)AAG>ATG	p.K1563M	DMD_uc004dcw.2_Missense_Mutation_p.K219M|DMD_uc004dcx.2_Missense_Mutation_p.K222M|DMD_uc004dcz.2_Missense_Mutation_p.K1440M|DMD_uc004dcy.1_Missense_Mutation_p.K1559M|DMD_uc004ddb.1_Missense_Mutation_p.K1555M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1563	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32408235	32408235	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32408235C>A	uc004dda.1	-	31	4541	c.4297G>T	c.(4297-4299)GGG>TGG	p.G1433W	DMD_uc004dcw.2_Missense_Mutation_p.G89W|DMD_uc004dcx.2_Missense_Mutation_p.G92W|DMD_uc004dcz.2_Missense_Mutation_p.G1310W|DMD_uc004dcy.1_Missense_Mutation_p.G1429W|DMD_uc004ddb.1_Missense_Mutation_p.G1425W|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1433	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32536157	32536157	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32536157C>A	uc004dda.1	-	18	2504	c.2260G>T	c.(2260-2262)GGC>TGC	p.G754C	DMD_uc004dcz.2_Missense_Mutation_p.G631C|DMD_uc004dcy.1_Missense_Mutation_p.G750C|DMD_uc004ddb.1_Missense_Mutation_p.G746C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G746C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	754	Spectrin 4.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32591638	32591638	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32591638A>C	uc004dda.1	-						DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148408	34148408	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148408T>G	uc004ddg.2	-	1	2021	c.1988A>C	c.(1987-1989)AAG>ACG	p.K663T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	663										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148797	34148797	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148797C>A	uc004ddg.2	-	1	1632	c.1599G>T	c.(1597-1599)GAG>GAT	p.E533D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	533										ovary(4)|central_nervous_system(1)	5																		---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962797	34962797	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34962797A>G	uc004ddi.1	+	1	1867	c.1849A>G	c.(1849-1851)ACT>GCT	p.T617A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	617										ovary(3)|breast(1)	4																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35944204	35944204	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35944204A>T	uc004ddj.2	+	2	379	c.320A>T	c.(319-321)TAT>TTT	p.Y107F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	107										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35959399	35959399	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35959399G>T	uc004ddj.2	+	3	461	c.402_splice	c.e3-1	p.G134_splice	CXorf22_uc010ngv.2_Splice_Site	NM_152632	NP_689845			hypothetical protein LOC170063											large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35966531	35966531	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35966531C>A	uc004ddj.2	+	4	677	c.618C>A	c.(616-618)TTC>TTA	p.F206L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	206										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
LANCL3	347404	broad.mit.edu	37	X	37431373	37431373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37431373C>T	uc011mkd.1	+	1	552	c.250C>T	c.(250-252)CTT>TTT	p.L84F	LANCL3_uc004ddp.1_Missense_Mutation_p.L84F	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	84							catalytic activity				0																		---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37658288	37658288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37658288G>A	uc004ddr.2	+	7	816	c.755G>A	c.(754-756)GGA>GAA	p.G252E	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	252	Extracellular (Potential).|Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CXorf27	25763	broad.mit.edu	37	X	37850184	37850184	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37850184T>C	uc004ddt.3	+	1	115	c.92T>C	c.(91-93)TTC>TCC	p.F31S		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	31							DNA binding			central_nervous_system(1)	1																		---	---	---	---
OTC	5009	broad.mit.edu	37	X	38240679	38240679	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38240679C>T	uc004def.3	+	4	597	c.383C>T	c.(382-384)GCC>GTC	p.A128V		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39931992	39931992	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:39931992A>G	uc004den.3	-	4	2899	c.2607T>C	c.(2605-2607)TAT>TAC	p.Y869Y	BCOR_uc004dep.3_Silent_p.Y869Y|BCOR_uc004deo.3_Silent_p.Y869Y|BCOR_uc004dem.3_Silent_p.Y869Y|BCOR_uc004deq.3_Silent_p.Y869Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	869					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40448348	40448348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40448348A>G	uc004det.2	+	2	250	c.148A>G	c.(148-150)ATG>GTG	p.M50V	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Intron|ATP6AP2_uc011mkm.1_Missense_Mutation_p.M50V|ATP6AP2_uc011mkn.1_Missense_Mutation_p.M50V	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	50	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40456806	40456806	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40456806T>C	uc004det.2	+	5	526	c.424T>C	c.(424-426)TCA>CCA	p.S142P	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.S66P|ATP6AP2_uc011mkm.1_Missense_Mutation_p.S110P|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_Missense_Mutation_p.S7P	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	142	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0																		---	---	---	---
CXorf38	159013	broad.mit.edu	37	X	40496409	40496409	+	Splice_Site	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40496409C>A	uc004dew.2	-	4	477	c.472_splice	c.e4-1	p.V158_splice	CXorf38_uc011mko.1_Splice_Site_p.V73_splice|CXorf38_uc004dev.1_Splice_Site_p.V39_splice|CXorf38_uc010nhd.2_Splice_Site	NM_144970	NP_659407			hypothetical protein LOC159013											ovary(1)	1																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40571544	40571544	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40571544A>G	uc004dex.3	-	7	923	c.783T>C	c.(781-783)GAT>GAC	p.D261D	MED14_uc010nhe.1_Silent_p.D145D	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	261	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41205775	41205775	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41205775G>A	uc004dfe.2	+	14	2370	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	DDX3X_uc004dff.2_Silent_p.L505L|DDX3X_uc011mkq.1_Silent_p.L489L|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	505	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6															HNSCC(61;0.18)			---	---	---	---
GPR82	27197	broad.mit.edu	37	X	41586602	41586602	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41586602T>C	uc004dfs.1	+	3	563	c.323T>C	c.(322-324)TTA>TCA	p.L108S	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.L108S|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MAOB	4129	broad.mit.edu	37	X	43662605	43662605	+	Missense_Mutation	SNP	G	T	T	rs149395667	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43662605G>T	uc004dfz.3	-	4	502	c.326C>A	c.(325-327)CCA>CAA	p.P109Q	MAOB_uc011mkx.1_Missense_Mutation_p.P93Q|MAOB_uc011mky.1_Missense_Mutation_p.P93Q	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	109	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)													---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44918361	44918361	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44918361T>C	uc004dge.3	+						KDM6A_uc010nhk.2_Intron|KDM6A_uc011mkz.1_Intron|KDM6A_uc011mla.1_Intron|KDM6A_uc011mlb.1_Intron|KDM6A_uc011mlc.1_Intron|KDM6A_uc011mld.1_Intron	NM_021140	NP_066963			ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44928862	44928862	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44928862T>C	uc004dge.3	+	17	2337	c.1962T>C	c.(1960-1962)CCT>CCC	p.P654P	KDM6A_uc010nhk.2_Silent_p.P620P|KDM6A_uc011mkz.1_Silent_p.P706P|KDM6A_uc011mla.1_Silent_p.P609P|KDM6A_uc011mlb.1_Silent_p.P661P|KDM6A_uc011mlc.1_Silent_p.P358P|KDM6A_uc011mld.1_Silent_p.P293P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	654					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---
MIR222	407007	broad.mit.edu	37	X	45606494	45606494	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:45606494T>C	hsa-mir-222|MI0000299	-			c.37T>C			uc011mle.1_5'Flank|MIR221_hsa-mir-221|MI0000298_5'Flank|uc011mlf.1_RNA																	0																		---	---	---	---
ZNF673	55634	broad.mit.edu	37	X	46322301	46322301	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46322301T>C	uc004dgn.3	+	4	433	c.134T>C	c.(133-135)GTG>GCG	p.V45A	ZNF673_uc004dgp.3_Missense_Mutation_p.V45A|ZNF673_uc010nhl.2_Missense_Mutation_p.V45A|ZNF673_uc004dgm.3_Missense_Mutation_p.V45A	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	zinc finger family member 673 isoform 1	45	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47045526	47045526	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47045526A>G	uc004dhf.2	+	22	2872	c.2493A>G	c.(2491-2493)CCA>CCG	p.P831P	RBM10_uc004dhg.2_Silent_p.P753P|RBM10_uc004dhh.2_Silent_p.P830P|RBM10_uc010nhq.2_Silent_p.P754P|RBM10_uc004dhi.2_Silent_p.P896P	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	831					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47230065	47230065	+	5'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47230065A>G	uc004dhr.1	+	1						NM_003446	NP_003437			zinc finger protein 157						negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47269706	47269706	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47269706A>T	uc004dhr.1	+	2	173	c.104A>T	c.(103-105)GAT>GTT	p.D35V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47271938	47271938	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47271938C>T	uc004dhr.1	+	4	535	c.466C>T	c.(466-468)CCC>TCC	p.P156S		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	156					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47272743	47272743	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47272743G>A	uc004dhr.1	+	4	1340	c.1271G>A	c.(1270-1272)AGT>AAT	p.S424N		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	424	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47307610	47307610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47307610T>C	uc004dhs.3	-	4	1752	c.1685A>G	c.(1684-1686)GAA>GGA	p.E562G	ZNF41_uc004dhu.3_Missense_Mutation_p.E554G|ZNF41_uc004dht.3_Missense_Mutation_p.E434G|ZNF41_uc004dhv.3_Missense_Mutation_p.E530G|ZNF41_uc004dhw.3_Missense_Mutation_p.E522G|ZNF41_uc004dhy.3_Missense_Mutation_p.E520G|ZNF41_uc004dhx.3_Missense_Mutation_p.E520G|ZNF41_uc011mlm.1_Missense_Mutation_p.E434G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)																---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426532	47426532	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47426532T>C	uc011mlq.1	+	9	1006	c.873_splice	c.e9+2	p.V291_splice	ARAF_uc011mln.1_Splice_Site|ARAF_uc011mlo.1_Splice_Site_p.V157_splice|ARAF_uc011mlp.1_Splice_Site_p.V291_splice|ARAF_uc004dic.1_Splice_Site_p.V72_splice	NM_001654	NP_001645			v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47478771	47478771	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47478771G>A	uc004die.2	-	1	486	c.357C>T	c.(355-357)ATC>ATT	p.I119I	SYN1_uc004did.2_Silent_p.I119I	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	119	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	47663670	47663670	+	IGR	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47663670C>T								LOC100133957 (143894 upstream) : ZNF81 (32631 downstream)																																			---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48339902	48339902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48339902G>A	uc004djo.1	+	8	880	c.557G>A	c.(556-558)CGG>CAG	p.R186Q	FTSJ1_uc004djl.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djm.2_Missense_Mutation_p.R186Q|FTSJ1_uc004djn.1_Missense_Mutation_p.R186Q|FTSJ1_uc004djp.1_Missense_Mutation_p.R186Q|FTSJ1_uc011mlw.1_Missense_Mutation_p.R49Q	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	186					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48340054	48340054	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48340054C>T	uc004djo.1	+	9	929	c.606C>T	c.(604-606)CCC>CCT	p.P202P	FTSJ1_uc004djl.2_Silent_p.P202P|FTSJ1_uc004djm.2_Silent_p.P202P|FTSJ1_uc004djn.1_Silent_p.P202P|FTSJ1_uc004djp.1_Silent_p.P202P|FTSJ1_uc011mlw.1_Silent_p.P65P	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	202					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0																		---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48371053	48371053	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48371053G>A	uc010nie.1	+	6	790	c.632G>A	c.(631-633)GGC>GAC	p.G211D	PORCN_uc004djr.1_Missense_Mutation_p.G211D|PORCN_uc004djs.1_Missense_Mutation_p.G211D|PORCN_uc004djt.1_Missense_Mutation_p.G140D|PORCN_uc011mlx.1_Missense_Mutation_p.G140D|PORCN_uc004dju.1_Missense_Mutation_p.G80D|PORCN_uc004djv.1_Missense_Mutation_p.G211D|PORCN_uc004djw.1_Missense_Mutation_p.G211D	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	211	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386694	48386694	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48386694A>G	uc004djx.3	+	5	747	c.542A>G	c.(541-543)CAC>CGC	p.H181R	EBP_uc004djy.3_Missense_Mutation_p.H181R|EBP_uc004djz.2_Missense_Mutation_p.H181R	NM_006579	NP_006570	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	181					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			ovary(1)	1																		---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418075	48418075	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48418075G>A	uc004dka.1	+	6	890	c.779G>A	c.(778-780)CGC>CAC	p.R260H	TBC1D25_uc011mly.1_Missense_Mutation_p.R202H|TBC1D25_uc004dkb.1_Missense_Mutation_p.R6H|TBC1D25_uc011mlz.1_Missense_Mutation_p.R6H|TBC1D25_uc011mma.1_Missense_Mutation_p.R6H|TBC1D25_uc004dkc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmb.1_Missense_Mutation_p.R264H|TBC1D25_uc011mmc.1_Missense_Mutation_p.R6H|TBC1D25_uc011mmd.1_Missense_Mutation_p.R6H	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	260	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48457143	48457143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48457143G>A	uc004dkh.1	+	3	227	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.R27Q|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	27						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48458825	48458825	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48458825G>A	uc004dkh.1	+	6	789	c.642G>A	c.(640-642)CGG>CGA	p.R214R	WDR13_uc010nif.1_Silent_p.R92R|WDR13_uc004dki.1_Silent_p.R122R|WDR13_uc004dkj.1_Silent_p.R214R|WDR13_uc004dkk.1_Silent_p.R122R|WDR13_uc004dkl.3_Silent_p.R122R|WDR13_uc011mme.1_Silent_p.R92R	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	214						cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48559089	48559089	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48559089T>A	uc004dkn.2	+	3	818	c.773T>A	c.(772-774)GTC>GAC	p.V258D	SUV39H1_uc011mmf.1_Missense_Mutation_p.V269D|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	258	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0																		---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48826003	48826003	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48837853	48837853	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48837853A>G	uc004dly.1	-	20	1840	c.1805T>C	c.(1804-1806)ATC>ACC	p.I602T	GRIPAP1_uc004dlz.2_Missense_Mutation_p.I492T|GRIPAP1_uc004dma.2_Missense_Mutation_p.I523T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	602	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48839424	48839424	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48839424C>A	uc004dly.1	-	17	1601	c.1566G>T	c.(1564-1566)AAG>AAT	p.K522N	GRIPAP1_uc004dlz.2_Missense_Mutation_p.K412N|GRIPAP1_uc004dma.2_Missense_Mutation_p.K469N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	522	Potential.					early endosome				breast(2)|kidney(1)	3																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48970832	48970832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48970832C>T	uc004dmr.2	-	10	1262	c.1255G>A	c.(1255-1257)GGT>AGT	p.G419S		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	419	KOW 2.					nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48972254	48972254	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48972254G>A	uc004dmr.2	-	8	1138	c.1131C>T	c.(1129-1131)TAC>TAT	p.Y377Y		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	377						nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---
MAGIX	79917	broad.mit.edu	37	X	49021524	49021524	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49021524C>T	uc010nin.1	+						MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Intron|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135			MAGI family member, X-linked isoform a												0																		---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49104239	49104239	+	Intron	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49104239G>A	uc004dnd.1	+						CCDC22_uc004dnc.1_Intron	NM_014008	NP_054727			coiled-coil domain containing 22											central_nervous_system(1)	1																		---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49127054	49127054	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49127054A>G	uc004dnh.1	+	1	738	c.722A>G	c.(721-723)GAC>GGC	p.D241G	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	241	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161405	49161405	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49161405A>T	uc010nir.1	+	2	183	c.67A>T	c.(67-69)ATT>TTT	p.I23F		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	G antigen 10	23											0	Ovarian(276;0.236)																	---	---	---	---
GAGE12J	729396	broad.mit.edu	37	X	49179707	49179707	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49179707C>T	uc010nit.2	+	2	151	c.35C>T	c.(34-36)CCT>CTT	p.P12L	GAGE12J_uc004dnl.3_Missense_Mutation_p.P12L|GAGE10_uc010nis.2_Intron|GAGE12J_uc004dnk.3_Missense_Mutation_p.P12L	NM_001098406	NP_001091876	A6NER3	GG12J_HUMAN	G antigen 12J	12											0	Ovarian(276;0.236)																	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49855016	49855016	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49855016C>A	uc004dos.1	+	10	2026	c.1778C>A	c.(1777-1779)CCT>CAT	p.P593H	CLCN5_uc004dor.1_Missense_Mutation_p.P663H|CLCN5_uc004doq.1_Missense_Mutation_p.P663H|CLCN5_uc004dot.1_Missense_Mutation_p.P593H	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	593	CBS 1.|Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958148	49958148	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958148C>T	uc004dow.1	-	5	1340	c.1216G>A	c.(1216-1218)GCT>ACT	p.A406T	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.A228T|AKAP4_uc004dou.1_Missense_Mutation_p.A397T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	406					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958224	49958224	+	Silent	SNP	G	A	A	rs140947270		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958224G>A	uc004dow.1	-	5	1264	c.1140C>T	c.(1138-1140)TCC>TCT	p.S380S	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S202S|AKAP4_uc004dou.1_Silent_p.S371S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50213510	50213510	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50213510C>T	uc010njr.1	-	1	228	c.168G>A	c.(166-168)GAG>GAA	p.E56E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---
NUDT10	170685	broad.mit.edu	37	X	51075982	51075982	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51075982G>A	uc004dph.2	+	2	385	c.165G>A	c.(163-165)GAG>GAA	p.E55E	NUDT10_uc004dpi.3_Silent_p.E55E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	55	Nudix box.|Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150240	51150240	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150240G>T	uc004dpj.2	+	1	474	c.372G>T	c.(370-372)GGG>GGT	p.G124G		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150515	51150515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150515G>A	uc004dpj.2	+	1	749	c.647G>A	c.(646-648)CGC>CAC	p.R216H		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
Unknown	0	broad.mit.edu	37	X	51150736	51150736	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51150736C>T	uc004dpj.2	+	1	970	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_203407	NP_981952			hypothetical protein LOC340602																														---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51637894	51637894	+	Intron	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51637894C>T	uc004dpm.2	+						MAGED1_uc004dpn.2_Intron|MAGED1_uc004dpo.2_Intron|MAGED1_uc011mnx.1_Intron	NM_001005332	NP_001005332			melanoma antigen family D, 1 isoform b						apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51639598	51639598	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:51639598A>G	uc004dpm.2	+	4	942	c.847A>G	c.(847-849)ACC>GCC	p.T283A	MAGED1_uc004dpn.2_Missense_Mutation_p.T339A|MAGED1_uc004dpo.2_Missense_Mutation_p.T283A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	283	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)														Multiple Myeloma(10;0.10)			---	---	---	---
XAGE5	170627	broad.mit.edu	37	X	52847243	52847243	+	3'UTR	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52847243G>T	uc004drd.1	+	5						NM_130775	NP_570131			X antigen family, member 5											ovary(1)	1																		---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53244983	53244983	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53244983G>A	uc004drz.2	-	7	1490	c.957C>T	c.(955-957)GCC>GCT	p.A319A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A252A|KDM5C_uc004dsa.2_Silent_p.A318A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53247567	53247567	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53247567A>G	uc004drz.2	-	3	775	c.242T>C	c.(241-243)GTG>GCG	p.V81A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.V81A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	81	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53268436	53268436	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53268436T>C	uc004dsd.2	-	11	3257	c.3056A>G	c.(3055-3057)TAC>TGC	p.Y1019C	IQSEC2_uc004dsc.2_Missense_Mutation_p.Y814C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1009	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53279871	53279871	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53279871A>G	uc004dsd.2	-	5	2088	c.1887T>C	c.(1885-1887)CAT>CAC	p.H629H	IQSEC2_uc004dsc.2_Silent_p.H424H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	619	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53280312	53280312	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53280312G>A	uc004dsd.2	-	5	1647	c.1446C>T	c.(1444-1446)CAC>CAT	p.H482H	IQSEC2_uc004dsc.2_Silent_p.H277H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	472					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53440054	53440054	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53440054A>T	uc004dsg.2	-	5	719	c.650T>A	c.(649-651)GTA>GAA	p.V217E	SMC1A_uc011moe.1_Missense_Mutation_p.V195E|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Missense_Mutation_p.V83E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	217	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53449435	53449435	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53449435T>C	uc004dsg.2	-						SMC1A_uc011moe.1_Intron|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Intron|RIBC1_uc004dsj.1_5'Flank|RIBC1_uc011mog.1_5'Flank|RIBC1_uc004dsk.2_5'Flank	NM_006306	NP_006297			structural maintenance of chromosomes 1A						cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53607904	53607904	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53607904T>C	uc004dsp.2	-	43	6005	c.5603A>G	c.(5602-5604)AAC>AGC	p.N1868S	HUWE1_uc004dsn.2_Missense_Mutation_p.N693S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1868					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53654765	53654765	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53654765A>G	uc004dsp.2	-	16	1710	c.1308T>C	c.(1306-1308)GTT>GTC	p.V436V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	436					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54019239	54019239	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54019239C>T	uc004dsu.2	-	14	1841	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	PHF8_uc004dst.2_Missense_Mutation_p.D554N|PHF8_uc004dsv.2_Missense_Mutation_p.D420N|PHF8_uc004dsw.2_Missense_Mutation_p.D453N|PHF8_uc004dsx.2_Missense_Mutation_p.D318N|PHF8_uc004dsy.2_Missense_Mutation_p.D554N	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	590					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54037577	54037577	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54037577T>C	uc004dsu.2	-	8	1105	c.1032A>G	c.(1030-1032)GGA>GGG	p.G344G	PHF8_uc004dst.2_Silent_p.G308G|PHF8_uc004dsv.2_Silent_p.G174G|PHF8_uc004dsw.2_Silent_p.G308G|PHF8_uc004dsx.2_Silent_p.G72G|PHF8_uc004dsy.2_Silent_p.G308G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	344	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54263865	54263865	+	Silent	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54263865A>C	uc004dtd.1	-	20	4432	c.3993T>G	c.(3991-3993)TCT>TCG	p.S1331S	WNK3_uc004dtc.1_Silent_p.S1378S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1331					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11																		---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54491892	54491892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54491892T>C	uc004dtg.2	-	8	2362	c.1628A>G	c.(1627-1629)GAT>GGT	p.D543G	FGD1_uc011moi.1_Missense_Mutation_p.D301G	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	543	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54784875	54784875	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54784875C>A	uc004dtj.2	-	8	1662	c.1632G>T	c.(1630-1632)AAG>AAT	p.K544N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	544					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955368	54955368	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955368T>C	uc004dtq.2	+	12	2318	c.2211T>C	c.(2209-2211)GCT>GCC	p.A737A	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A268A|TRO_uc004dtw.2_Silent_p.A340A|TRO_uc004dtx.2_Silent_p.A120A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	737					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955548	54955548	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955548T>C	uc004dtq.2	+	12	2498	c.2391T>C	c.(2389-2391)TGT>TGC	p.C797C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.C328C|TRO_uc004dtw.2_Silent_p.C400C|TRO_uc004dtx.2_Silent_p.C180C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	797	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---
KLF8	11279	broad.mit.edu	37	X	56276693	56276693	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56276693G>A	uc004dur.2	+	2	983	c.37G>A	c.(37-39)GTC>ATC	p.V13I	KLF8_uc010nkg.2_Intron|KLF8_uc011mop.1_Missense_Mutation_p.V13I|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57367813	57367813	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57367813G>A	uc004dvc.2	+	5	881	c.732G>A	c.(730-732)AAG>AAA	p.K244K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	244						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3															HNSCC(52;0.14)			---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935777	57935777	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57935777A>T	uc004dve.2	-	1	1291	c.1078T>A	c.(1078-1080)TTC>ATC	p.F360I		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	360	C2H2-type 4.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570336	62570336	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62570336C>A	uc004dvf.2	-	1	883	c.363G>T	c.(361-363)AAG>AAT	p.K121N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	121					gamete generation					ovary(1)|lung(1)	2																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62893983	62893983	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62893983G>A	uc004dvl.2	-	6	1698	c.859C>T	c.(859-861)CGC>TGC	p.R287C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R176C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R149C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R266C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R266C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R234C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R294C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	287	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62944564	62944564	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62944564C>G	uc004dvl.2	-	2	876	c.37G>C	c.(37-39)GCT>CCT	p.A13P	ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.A20P	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	13	SH3.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445207	63445207	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445207C>T	uc011mou.1	-	10	1517	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	ASB12_uc004dvp.1_Silent_p.T99T|ASB12_uc004dvq.1_Silent_p.T108T|ASB12_uc004dvr.1_Silent_p.T108T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63445479	63445479	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63445479T>C	uc011mou.1	-	10	1245	c.1177A>G	c.(1177-1179)ATC>GTC	p.I393V	ASB12_uc004dvp.1_Missense_Mutation_p.I9V|ASB12_uc004dvq.1_Missense_Mutation_p.I18V|ASB12_uc004dvr.1_Missense_Mutation_p.I18V	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722378	64722378	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64722378C>T	uc010nko.2	+	5	1776	c.1767C>T	c.(1765-1767)AAC>AAT	p.N589N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	589							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3																		---	---	---	---
MSN	4478	broad.mit.edu	37	X	64951829	64951829	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64951829C>A	uc004dwf.2	+	6	879	c.681C>A	c.(679-681)ATC>ATA	p.I227I		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	227	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
MSN	4478	broad.mit.edu	37	X	64957057	64957057	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64957057C>T	uc004dwf.2	+	10	1306	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	370					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67502906	67502906	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67502906T>A	uc004dww.3	-	4	598	c.304A>T	c.(304-306)ATG>TTG	p.M102L	OPHN1_uc011mpg.1_Missense_Mutation_p.M102L|OPHN1_uc004dwx.2_Missense_Mutation_p.M102L	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	102					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67751834	67751834	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67751834C>A	uc004dwy.2	+	7	727	c.704C>A	c.(703-705)CCT>CAT	p.P235H	YIPF6_uc011mph.1_Missense_Mutation_p.P192H|uc004dwz.2_5'Flank	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	235						endoplasmic reticulum|integral to membrane					0																		---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67941915	67941915	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67941915G>A	uc004dxa.2	+	10	2618	c.2246G>A	c.(2245-2247)GGC>GAC	p.G749D	STARD8_uc004dxb.2_Missense_Mutation_p.G829D|STARD8_uc004dxc.3_Missense_Mutation_p.G749D	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	749	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060180	68060180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060180G>A	uc004dxd.3	+	5	1504	c.724G>A	c.(724-726)GCG>ACG	p.A242T	EFNB1_uc004dxe.2_Missense_Mutation_p.A242T	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	242	Helical; (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060449	68060449	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68060449C>T	uc004dxd.3	+	5	1773	c.993C>T	c.(991-993)GTC>GTT	p.V331V	EFNB1_uc004dxe.2_Silent_p.V331V	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	331	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0																		---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68381999	68381999	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68381999G>T	uc004dxh.2	-	2	1369	c.1083C>A	c.(1081-1083)TGC>TGA	p.C361*	PJA1_uc011mpi.1_Nonsense_Mutation_p.C79*|PJA1_uc004dxg.2_Nonsense_Mutation_p.C173*|PJA1_uc004dxi.2_Nonsense_Mutation_p.C306*	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	361							zinc ion binding				0																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639532	69639532	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639532C>T	uc004dyg.2	+	30	3521	c.3394C>T	c.(3394-3396)CGG>TGG	p.R1132W	KIF4A_uc010nkw.2_Missense_Mutation_p.R1132W	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1132	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69639929	69639929	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69639929C>T	uc004dyg.2	+	31	3640	c.3513C>T	c.(3511-3513)TGC>TGT	p.C1171C	KIF4A_uc010nkw.2_Silent_p.C1171C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1171	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69647035	69647035	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69647035G>A	uc004dyh.2	+	9	1002	c.751G>A	c.(751-753)GGA>AGA	p.G251R	GDPD2_uc010nkx.1_Missense_Mutation_p.G251R|GDPD2_uc010nky.1_Missense_Mutation_p.G37R|GDPD2_uc011mpk.1_Missense_Mutation_p.G251R|GDPD2_uc011mpl.1_Missense_Mutation_p.G172R|GDPD2_uc011mpm.1_Missense_Mutation_p.G172R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	251	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69649837	69649837	+	Missense_Mutation	SNP	C	T	T	rs35552527	byFrequency;by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69649837C>T	uc004dyh.2	+	12	1482	c.1231C>T	c.(1231-1233)CGT>TGT	p.R411C	GDPD2_uc010nky.1_Silent_p.D263D|GDPD2_uc011mpk.1_Missense_Mutation_p.R411C|GDPD2_uc011mpl.1_Missense_Mutation_p.R332C|GDPD2_uc011mpm.1_Missense_Mutation_p.R332C	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	411	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69652204	69652204	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69652204A>G	uc004dyh.2	+	13	1606	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.K503R|GDPD2_uc011mpl.1_Missense_Mutation_p.K373R|GDPD2_uc011mpm.1_Missense_Mutation_p.K373R	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	452	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)																	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70148105	70148105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70148105A>G	uc004dyn.2	-	5	868	c.710T>C	c.(709-711)TTG>TCG	p.L237S	SLC7A3_uc004dyo.2_Missense_Mutation_p.L237S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	237	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
CXorf65	158830	broad.mit.edu	37	X	70326212	70326212	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70326212A>G	uc011mpo.1	-	2	104	c.90T>C	c.(88-90)AGT>AGC	p.S30S	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	30										central_nervous_system(1)	1																		---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327621	70327621	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70327621C>G	uc004dyw.1	-	8	1089	c.1075G>C	c.(1075-1077)GCC>CCC	p.A359P	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.A88P|IL2RG_uc004dyx.1_Missense_Mutation_p.A169P	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	359	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									Severe_Combined_Immunodeficiency_X-linked				---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389593	70389593	+	Nonsense_Mutation	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70389593C>G	uc004dzb.2	+	7	2437	c.2133C>G	c.(2131-2133)TAC>TAG	p.Y711*	NLGN3_uc004dzc.2_Nonsense_Mutation_p.Y594*|NLGN3_uc011mps.1_Nonsense_Mutation_p.Y691*|NLGN3_uc004dze.2_Nonsense_Mutation_p.Y529*	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	731	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70823666	70823666	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70823666A>G	uc004eae.2	+	8	1040	c.539A>G	c.(538-540)GAC>GGC	p.D180G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	180	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70832302	70832302	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70832302T>A	uc004eae.2	+	12	2349	c.1848T>A	c.(1846-1848)TAT>TAA	p.Y616*	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	616						nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836470	70836470	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70836470G>A	uc004eaf.2	-	2	920	c.852C>T	c.(850-852)GGC>GGT	p.G284G	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.G331G	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	284	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349878	71349878	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71349878T>C	uc010nlh.1	-	1	1874	c.1513A>G	c.(1513-1515)AGA>GGA	p.R505G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	505										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71350381	71350381	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71350381T>C	uc010nlh.1	-	1	1371	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	337										ovary(2)|skin(1)	3	Renal(35;0.156)																	---	---	---	---
PIN4	5303	broad.mit.edu	37	X	71416695	71416695	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71416695T>A	uc004eam.2	+	3	288	c.253T>A	c.(253-255)TCT>ACT	p.S85T	PIN4_uc004eao.1_Missense_Mutation_p.S85T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	60	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)																	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425828	71425828	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71425828T>A	uc004eaq.1	-	2	2886	c.2789A>T	c.(2788-2790)GAT>GTT	p.D930V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.D807V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	930					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)																	---	---	---	---
HDAC8	55869	broad.mit.edu	37	X	71787753	71787753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71787753C>T	uc004eau.2	-	4	465	c.423G>A	c.(421-423)TGG>TGA	p.W141*	HDAC8_uc011mqe.1_5'UTR|HDAC8_uc011mqf.1_Intron|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Nonsense_Mutation_p.W12*|HDAC8_uc004eav.2_Nonsense_Mutation_p.W141*|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	141	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)													---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71802336	71802336	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71802336A>G	uc004eax.3	-	31	3711	c.3410T>C	c.(3409-3411)CTG>CCG	p.L1137P	PHKA1_uc004eay.3_Missense_Mutation_p.L1124P|PHKA1_uc011mqi.1_Missense_Mutation_p.L1065P|PHKA1_uc010nll.2_Missense_Mutation_p.L169P	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1137					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)																	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433875	72433875	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72433875G>A	uc004ebi.2	-	1	810	c.454C>T	c.(454-456)CGT>TGT	p.R152C	NAP1L2_uc011mqj.1_Missense_Mutation_p.R10C	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	152					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)																	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73040844	73040844	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73040844T>C	uc004ebn.2	+	1		c.28805T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042647	73042647	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73042647A>G	uc004ebn.2	+	1		c.30608A>G			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044507	73044507	+	RNA	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044507T>C	uc004ebn.2	+	1		c.32468T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044614	73044614	+	RNA	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73044614T>A	uc004ebn.2	+	1		c.32575T>A			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73063303	73063303	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73063303A>G	uc004ebm.1	-	1		c.9286T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
XIST	7503	broad.mit.edu	37	X	73065194	73065194	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73065194A>G	uc004ebm.1	-	1		c.7395T>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	73095435	73095435	+	IGR	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73095435G>A								XIST (22847 upstream) : NCRNA00183 (68724 downstream)																																			---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812655	73812655	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73812655T>C	uc004ebu.2	-	5	785	c.495A>G	c.(493-495)GGA>GGG	p.G165G	RLIM_uc004ebw.2_Silent_p.G165G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	165					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963610	73963610	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73963610A>T	uc004eby.2	-	3	1399	c.782T>A	c.(781-783)TTC>TAC	p.F261Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73964288	73964288	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73964288A>G	uc004eby.2	-	3	721	c.104T>C	c.(103-105)ATG>ACG	p.M35T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	35					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---
ABCB7	22	broad.mit.edu	37	X	74289248	74289248	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74289248T>C	uc004eca.2	-	11	1432	c.1407A>G	c.(1405-1407)ACA>ACG	p.T469T	ABCB7_uc004ebz.2_Silent_p.T470T|ABCB7_uc011mqn.1_Silent_p.T443T|ABCB7_uc010nls.2_Silent_p.T430T|ABCB7_uc010nlt.2_Silent_p.T429T	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	469					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1																		---	---	---	---
UPRT	139596	broad.mit.edu	37	X	74523346	74523346	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74523346A>T	uc004ecb.1	+	7	1059	c.930A>T	c.(928-930)TAA>TAT	p.*310Y	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_3'UTR|UPRT_uc004ece.1_Nonstop_Mutation_p.*174Y	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	310					nucleoside metabolic process	cytoplasm|nucleus					0																		---	---	---	---
CXorf26	51260	broad.mit.edu	37	X	75395397	75395397	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75395397T>C	uc004ecl.1	+	4	449	c.246T>C	c.(244-246)CTT>CTC	p.L82L		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	82											0																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649862	75649862	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75649862G>A	uc004ecm.1	+	1	1746	c.1539G>A	c.(1537-1539)CGG>CGA	p.R513R		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	513	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650756	75650756	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75650756C>A	uc004ecm.1	+	1	2640	c.2433C>A	c.(2431-2433)TCC>TCA	p.S811S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	811	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224365	77224365	+	3'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77224365T>C	uc004ecy.1	-	1					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062			bisphosphoglycerate mutase 4						glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77224638G>A	uc004ecy.1	-	1	498	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77227165	77227165	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77227165T>C	uc004ecx.3	+	2	187	c.27T>C	c.(25-27)TCT>TCC	p.S9S	ATP7A_uc004ecw.2_Silent_p.S9S|PGAM4_uc004ecy.1_5'Flank	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	9	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254041	77254041	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77254041A>T	uc004ecx.3	+	5	1563	c.1403A>T	c.(1402-1404)AAT>ATT	p.N468I	ATP7A_uc004ecw.2_Missense_Mutation_p.N468I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77284945	77284945	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77284945A>G	uc004ecx.3	+							NM_000052	NP_000043			ATPase, Cu++ transporting, alpha polypeptide						ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77369604	77369604	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77369604C>A	uc004ecz.3	+	4	536	c.364C>A	c.(364-366)CTC>ATC	p.L122I	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.L94I	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	122					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TAF9B	51616	broad.mit.edu	37	X	77393267	77393267	+	Silent	SNP	C	T	T	rs145287115		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77393267C>T	uc004eda.2	-	4	455	c.384G>A	c.(382-384)AGG>AGA	p.R128R		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	128					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0																		---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528568	77528568	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77528568A>G	uc004edb.2	-	3	1076	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CYSLTR1_uc010nma.2_Missense_Mutation_p.S226P|CYSLTR1_uc010nmb.2_Missense_Mutation_p.S226P	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)													---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216180	78216180	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78216180G>T	uc004ede.2	+	4	532	c.163G>T	c.(163-165)GCC>TCC	p.A55S	P2RY10_uc004edf.2_Missense_Mutation_p.A55S	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5																		---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78616678	78616678	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78616678T>C	uc004edh.2	-						ITM2A_uc011mqr.1_Intron	NM_004867	NP_004858			integral membrane protein 2A							integral to membrane	protein binding			lung(2)	2																		---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79278708	79278708	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79278708G>T	uc010nmg.1	+	3	459	c.325G>T	c.(325-327)GGG>TGG	p.G109W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	109	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79948491	79948491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79948491G>A	uc004edt.2	-	28	3474	c.3211C>T	c.(3211-3213)CAG>TAG	p.Q1071*	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edp.2_Nonsense_Mutation_p.Q900*|BRWD3_uc004edq.2_Nonsense_Mutation_p.Q667*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.Q667*|BRWD3_uc004edr.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eds.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edu.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004edv.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edw.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edx.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edy.2_Nonsense_Mutation_p.Q667*|BRWD3_uc004edz.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eea.2_Nonsense_Mutation_p.Q741*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.Q667*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1071										ovary(4)	4																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79978164	79978164	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79978164A>T	uc004edt.2	-	17	2036	c.1773T>A	c.(1771-1773)GAT>GAA	p.D591E	BRWD3_uc004edo.2_Missense_Mutation_p.D187E|BRWD3_uc004edp.2_Missense_Mutation_p.D420E|BRWD3_uc004edq.2_Missense_Mutation_p.D187E|BRWD3_uc010nmj.1_Missense_Mutation_p.D187E|BRWD3_uc004edr.2_Missense_Mutation_p.D261E|BRWD3_uc004eds.2_Missense_Mutation_p.D187E|BRWD3_uc004edu.2_Missense_Mutation_p.D261E|BRWD3_uc004edv.2_Missense_Mutation_p.D187E|BRWD3_uc004edw.2_Missense_Mutation_p.D187E|BRWD3_uc004edx.2_Missense_Mutation_p.D187E|BRWD3_uc004edy.2_Missense_Mutation_p.D187E|BRWD3_uc004edz.2_Missense_Mutation_p.D261E|BRWD3_uc004eea.2_Missense_Mutation_p.D261E|BRWD3_uc004eeb.2_Missense_Mutation_p.D187E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	591										ovary(4)	4																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83352817	83352817	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83352817A>G	uc004eej.1	-	19	1893	c.1816T>C	c.(1816-1818)TGG>CGG	p.W606R	RPS6KA6_uc011mqt.1_Missense_Mutation_p.W606R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W503R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	606	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83359656	83359656	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83359656C>A	uc004eej.1	-	17	1542	c.1465G>T	c.(1465-1467)GAT>TAT	p.D489Y	RPS6KA6_uc011mqt.1_Missense_Mutation_p.D489Y|RPS6KA6_uc011mqu.1_Missense_Mutation_p.D386Y	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	489	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502578	84502578	+	5'UTR	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84502578T>C	uc004eeo.2	+	3					ZNF711_uc004eep.2_5'UTR|ZNF711_uc004eeq.2_5'UTR	NM_021998	NP_068838			zinc finger protein 711						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928184	92928184	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92928184G>A	uc004efq.2	-	1	425	c.120C>T	c.(118-120)AGC>AGT	p.S40S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	40	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551344	99551344	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99551344G>A	uc010nmz.2	-	6	5054	c.3378C>T	c.(3376-3378)AGC>AGT	p.S1126S	PCDH19_uc004efw.3_Silent_p.S1078S|PCDH19_uc004efx.3_Silent_p.S1079S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99661923	99661923	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99661923T>C	uc010nmz.2	-	1	3349	c.1673A>G	c.(1672-1674)GAC>GGC	p.D558G	PCDH19_uc004efw.3_Missense_Mutation_p.D558G|PCDH19_uc004efx.3_Missense_Mutation_p.D558G	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	558	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99942073	99942073	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99942073C>T	uc004egd.3	-	13	1531	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	SYTL4_uc010nnb.2_Missense_Mutation_p.R64H|SYTL4_uc010nnc.2_Missense_Mutation_p.R392H|SYTL4_uc004ege.3_Missense_Mutation_p.R392H|SYTL4_uc004egf.3_Missense_Mutation_p.R392H|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	392	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100104913	100104913	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100104913C>T	uc004egj.2	-	10	1350	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	NOX1_uc004egl.3_Missense_Mutation_p.D382N|NOX1_uc010nne.2_Missense_Mutation_p.D345N	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	382	FAD-binding FR-type.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100129075	100129075	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100129075A>T	uc004egj.2	-						uc010nnf.2_Intron|NOX1_uc004egl.3_Intron|NOX1_uc010nne.2_Intron	NM_007052	NP_008983			NADPH oxidase 1 isoform long						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100169342	100169342	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100169342C>T	uc004egn.2	-	3	1940	c.1335G>A	c.(1333-1335)AGG>AGA	p.R445R	XKRX_uc011mre.1_Silent_p.R241R	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	445						integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100177865	100177865	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100177865A>T	uc004egn.2	-	2	1126	c.521T>A	c.(520-522)ATC>AAC	p.I174N	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	174	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100292924	100292924	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100292924G>A	uc004egq.2	-	4	719	c.420C>T	c.(418-420)CTC>CTT	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100334082	100334082	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100334082A>G	uc004egw.2	+	1	247	c.91A>G	c.(91-93)AGG>GGG	p.R31G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	31						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349662	100349662	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349662C>T	uc004egw.2	+	2	377	c.221C>T	c.(220-222)GCC>GTC	p.A74V		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	74	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
TMEM35	59353	broad.mit.edu	37	X	100349842	100349842	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100349842A>G	uc004egw.2	+	2	557	c.401A>G	c.(400-402)AAG>AGG	p.K134R		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	134						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0																		---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100381795	100381795	+	Intron	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100381795A>T	uc004egx.2	+						CENPI_uc011mrg.1_Intron|CENPI_uc004egy.2_Intron	NM_006733	NP_006724			centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100515554	100515554	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100515554G>A	uc004egz.2	+	24	3187	c.2818G>A	c.(2818-2820)GCC>ACC	p.A940T	DRP2_uc011mrh.1_Missense_Mutation_p.A862T	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	940					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---
BTK	695	broad.mit.edu	37	X	100608210	100608210	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100608210T>C	uc004ehg.2	-	18	2073	c.1880A>G	c.(1879-1881)TAT>TGT	p.Y627C	BTK_uc004ehf.2_Missense_Mutation_p.Y127C|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.Y103C|BTK_uc010nnm.2_Intron|BTK_uc010nnn.2_Missense_Mutation_p.Y451C|BTK_uc010nno.2_Missense_Mutation_p.Y661C	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	627	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6														Agammaglobulinemia_X-linked				---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100808785	100808785	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100808785T>C	uc004ehv.2	+	4	1243	c.872T>C	c.(871-873)GTG>GCG	p.V291A	ARMCX1_uc004ehw.2_Missense_Mutation_p.V291A	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	291						integral to membrane	binding			ovary(3)|pancreas(1)	4																		---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101152909	101152909	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101152909G>A	uc011mrl.1	-	5	748	c.437C>T	c.(436-438)GCT>GTT	p.A146V	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding			ovary(1)	1																		---	---	---	---
TCEAL2	140597	broad.mit.edu	37	X	101382346	101382346	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101382346A>T	uc004eip.2	+	3	763	c.544A>T	c.(544-546)AGA>TGA	p.R182*		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102318123	102318123	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102318123A>T	uc004ejt.1	-	3	320	c.80T>A	c.(79-81)GTT>GAT	p.V27D		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	27					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
NXF3	56000	broad.mit.edu	37	X	102337215	102337215	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102337215G>A	uc004eju.2	-	9	929	c.858C>T	c.(856-858)TGC>TGT	p.C286C	NXF3_uc010noi.1_Silent_p.C136C|NXF3_uc011mrw.1_Silent_p.C286C|NXF3_uc011mrx.1_Silent_p.C197C	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	286						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
TCEAL4	79921	broad.mit.edu	37	X	102842091	102842091	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102842091C>T	uc004ekl.2	+	3	781	c.488C>T	c.(487-489)GCT>GTT	p.A163V	TCEAL4_uc004ekn.2_Missense_Mutation_p.A163V|TCEAL4_uc004ekm.2_Missense_Mutation_p.A163V|TCEAL4_uc004eko.2_Missense_Mutation_p.A163V	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
RAB9B	51209	broad.mit.edu	37	X	103080451	103080451	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103080451G>A	uc004ell.1	-	3	549	c.264C>T	c.(262-264)AGC>AGT	p.S88S	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	88					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3																		---	---	---	---
ESX1	80712	broad.mit.edu	37	X	103499107	103499107	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103499107G>A	uc004ely.2	-	2	292	c.234C>T	c.(232-234)GGC>GGT	p.G78G		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	78					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279292	105279292	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105279292G>A	uc004eme.1	-	2	723	c.707C>T	c.(706-708)CCC>CTC	p.P236L	SERPINA7_uc010npd.2_Missense_Mutation_p.P236L|SERPINA7_uc010npe.1_Missense_Mutation_p.P236L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105875884	105875884	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105875884A>G	uc004emi.3	+	4	1160	c.1009A>G	c.(1009-1011)ACA>GCA	p.T337A	CXorf57_uc004emj.3_Missense_Mutation_p.T337A|CXorf57_uc004emh.2_Missense_Mutation_p.T337A	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	337										ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105879884	105879884	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105879884A>G	uc004emi.3	+						CXorf57_uc004emj.3_Intron|CXorf57_uc004emh.2_Intron	NM_018015	NP_060485			hypothetical protein LOC55086											ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106028294	106028294	+	Splice_Site	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106028294G>A	uc004eml.2	+	3	983	c.733_splice	c.e3-1	p.R245_splice	RNF128_uc004emk.2_Splice_Site_p.R219_splice	NM_194463	NP_919445			ring finger protein 128 isoform 1							endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106185904	106185904	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106185904T>C	uc004emu.3	-	15	2460	c.2217A>G	c.(2215-2217)GCA>GCG	p.A739A	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.A739A|MORC4_uc004emw.3_Silent_p.A487A	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	739							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---
RBM41	55285	broad.mit.edu	37	X	106331799	106331799	+	Nonsense_Mutation	SNP	C	T	T	rs149164060		TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106331799C>T	uc004emz.2	-	5	825	c.794G>A	c.(793-795)TGG>TAG	p.W265*	RBM41_uc004emy.1_Nonsense_Mutation_p.W265*	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	265							nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	106803566	106803566	+	IGR	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106803566T>A								CXorf41 (316094 upstream) : PRPS1 (68088 downstream)																																			---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107288361	107288361	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107288361A>T	uc004eno.2	+	1	162	c.1A>T	c.(1-3)ATG>TTG	p.M1L	VSIG1_uc011msk.1_Missense_Mutation_p.M1L	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	1						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107395055	107395055	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107395055A>C	uc004enr.2	+	11	1107	c.984A>C	c.(982-984)AAA>AAC	p.K328N	ATG4A_uc004ent.2_Missense_Mutation_p.K266N|ATG4A_uc004ens.2_Missense_Mutation_p.K244N|ATG4A_uc011msl.1_Missense_Mutation_p.K182N|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.K244N|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	328					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107457431	107457431	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107457431C>A	uc004enw.3	-	6	458	c.355G>T	c.(355-357)GGC>TGC	p.G119C	COL4A6_uc004env.3_Missense_Mutation_p.G118C|COL4A6_uc011msn.1_Missense_Mutation_p.G118C|COL4A6_uc010npk.2_Missense_Mutation_p.G118C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	119	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107866021	107866021	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107866021C>A	uc004enz.1	+	33	3085	c.2883C>A	c.(2881-2883)GGC>GGA	p.G961G	COL4A5_uc011mso.1_Silent_p.G961G|COL4A5_uc004eob.1_Silent_p.G569G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	961	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107935981	107935981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107935981C>T	uc004enz.1	+	49	4734	c.4532C>T	c.(4531-4533)ACG>ATG	p.T1511M	COL4A5_uc011mso.1_Missense_Mutation_p.T1508M|COL4A5_uc011msp.1_Missense_Mutation_p.T187M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1505	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979097	107979097	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107979097C>T	uc004eoc.2	-	1	511	c.478G>A	c.(478-480)GCA>ACA	p.A160T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	160	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108924228	108924228	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108924228G>A	uc004eoi.2	-	7	1282	c.777C>T	c.(775-777)AAC>AAT	p.N259N	ACSL4_uc004eoj.2_Silent_p.N218N|ACSL4_uc004eok.2_Silent_p.N218N|ACSL4_uc010npp.1_Silent_p.N259N	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	259	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)													---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109696605	109696605	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109696605T>C	uc004eor.1	+	3	3006	c.2760T>C	c.(2758-2760)TGT>TGC	p.C920C	RGAG1_uc011msr.1_Silent_p.C920C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	920										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109937471	109937471	+	Missense_Mutation	SNP	C	T	T	rs141240795	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109937471C>T	uc004eou.3	-	8	1047	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CHRDL1_uc004eov.2_Missense_Mutation_p.R227Q|CHRDL1_uc004eow.2_Missense_Mutation_p.R232Q|CHRDL1_uc010nps.2_Missense_Mutation_p.R232Q|CHRDL1_uc004eot.2_Missense_Mutation_p.R153Q|CHRDL1_uc011mss.1_Missense_Mutation_p.R147Q	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110925502	110925502	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110925502A>T	uc011msy.1	+	2	258	c.224A>T	c.(223-225)GAT>GTT	p.D75V	ALG13_uc004epi.1_Missense_Mutation_p.D75V|ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	75					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111019870	111019870	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111019870A>G	uc004epl.1	-	11	3512	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	865	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195483	111195483	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111195483C>T	uc004epl.1	-	2	1085	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TRPC5_uc004epm.1_Missense_Mutation_p.E56K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	56	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111914414G>A	uc004epq.2	-	2	538	c.205C>T	c.(205-207)CGC>TGC	p.R69C	LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	69						integral to membrane					0																		---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112035138	112035138	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:112035138T>C	uc004epr.2	-	6	1848	c.1848A>G	c.(1846-1848)GCA>GCG	p.A616A	AMOT_uc004eps.2_Silent_p.A207A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	616	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114880488	114880488	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114880488G>A	uc004eqd.2	+	12	1749	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	PLS3_uc010nqg.2_Silent_p.L235L|PLS3_uc011mtf.1_Silent_p.L440L|PLS3_uc004eqe.2_Silent_p.L453L|PLS3_uc011mtg.1_Silent_p.L426L|PLS3_uc011mth.1_Silent_p.L408L|PLS3_uc011mti.1_Silent_p.L129L|PLS3_uc011mtj.1_Silent_p.L47L|PLS3_uc011mtk.1_Silent_p.L114L|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	453	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304235	115304235	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115304235T>C	uc004eqh.3	+	3	909	c.702T>C	c.(700-702)ATT>ATC	p.I234I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	234	Helical; Name=5; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3																		---	---	---	---
CXorf61	203413	broad.mit.edu	37	X	115592931	115592931	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115592931A>G	uc004eqj.1	-	2	439	c.319T>C	c.(319-321)TCA>CCA	p.S107P		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	107	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117528054	117528054	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117528054C>T	uc004eqn.2	+	5	1288	c.863C>T	c.(862-864)ACC>ATC	p.T288I	WDR44_uc004eqo.2_Missense_Mutation_p.T288I|WDR44_uc011mtr.1_Missense_Mutation_p.T263I|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	288						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117576313	117576313	+	Intron	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117576313T>C	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117695459	117695459	+	Silent	SNP	C	T	T	rs112113377	by1000genomes	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117695459C>T	uc004eqp.2	+	7	735	c.672C>T	c.(670-672)GAC>GAT	p.D224D	DOCK11_uc004eqq.2_Translation_Start_Site	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	224	PH.				blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117742033	117742033	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117742033A>G	uc004eqp.2	+	25	2745	c.2682_splice	c.e25-2	p.M894_splice	DOCK11_uc004eqq.2_Splice_Site_p.M660_splice	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118123421	118123421	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118123421G>T	uc004eqw.2	+	4	1141	c.1110G>T	c.(1108-1110)AGG>AGT	p.R370S	LONRF3_uc004eqx.2_Missense_Mutation_p.R329S|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R114S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	370					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
SLC25A43	203427	broad.mit.edu	37	X	118586848	118586848	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118586848T>C	uc004erd.2	+	5	1190	c.846T>C	c.(844-846)ATT>ATC	p.I282I	SLC25A43_uc011mtt.1_Missense_Mutation_p.Y225H	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	282	Solcar 3.|Helical; Name=6; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1																		---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118708930	118708930	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118708930C>T	uc004erl.2	+	2	287	c.111C>T	c.(109-111)AAC>AAT	p.N37N	UBE2A_uc004erm.2_Silent_p.N37N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	37					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0													Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118723331	118723331	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118723331A>G	uc004erq.2	-	2	2710	c.2057T>C	c.(2056-2058)ATG>ACG	p.M686T	NKRF_uc004err.2_Missense_Mutation_p.M686T	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	686					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118797509	118797509	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118797509C>T	uc004erv.2	-	3	542	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.V93M|SEPT6_uc004ert.2_Missense_Mutation_p.V93M|SEPT6_uc004eru.2_Missense_Mutation_p.V93M|SEPT6_uc004erw.2_Missense_Mutation_p.V35M|SEPT6_uc011mtv.1_Missense_Mutation_p.V35M|SEPT6_uc011mtw.1_Missense_Mutation_p.V123M	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	93					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4																		---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118968985	118968985	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118968985A>T	uc004erz.1	-	11	1385	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	UPF3B_uc004esa.1_Silent_p.R423R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	436	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.			R->A: Impairs association with EJC.|R->A: Reduces NMD.|Missing: Abolishes NMD.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3																		---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119005489	119005489	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119005489G>A	uc004esb.2	-	1	303	c.88C>T	c.(88-90)CGC>TGC	p.R30C	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	30							nucleic acid binding|zinc ion binding			breast(2)	2																		---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181790	120181790	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120181790G>C	uc004eto.2	+	1	329	c.252G>C	c.(250-252)AAG>AAC	p.K84N		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	84		Substrate (By similarity).			glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182575	120182575	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182575A>C	uc004eto.2	+	1	1114	c.1037A>C	c.(1036-1038)AAG>ACG	p.K346T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551552	122551552	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551552A>G	uc004etq.3	+	12	2093	c.1800A>G	c.(1798-1800)CCA>CCG	p.P600P	GRIA3_uc004etr.3_Silent_p.P600P|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.P584P	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	600	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551553	122551553	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551553A>T	uc004etq.3	+	12	2094	c.1801A>T	c.(1801-1803)AAT>TAT	p.N601Y	GRIA3_uc004etr.3_Missense_Mutation_p.N601Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N585Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	601	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122756954	122756954	+	Splice_Site	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122756954A>G	uc004etu.2	-	29	3714	c.3682_splice	c.e29+1	p.D1228_splice	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Intron	NM_001081550	NP_001075019			THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757104	122757104	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122757104T>C	uc004etu.2	-	29	3566	c.3534A>G	c.(3532-3534)TCA>TCG	p.S1178S	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1178					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122830676	122830676	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122830676G>A	uc004etu.2	-	6	394	c.362C>T	c.(361-363)ACA>ATA	p.T121I	THOC2_uc011muh.1_Missense_Mutation_p.T42I|THOC2_uc011mui.1_Missense_Mutation_p.T6I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	121					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123631108	123631108	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123631108T>C	uc004euj.2	-	20	3517	c.3453A>G	c.(3451-3453)ATA>ATG	p.I1151M	ODZ1_uc011muj.1_Missense_Mutation_p.I1150M|ODZ1_uc010nqy.2_Missense_Mutation_p.I1151M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1151	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123663719	123663719	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123663719A>G	uc004euj.2	-	16	2830	c.2766T>C	c.(2764-2766)GAT>GAC	p.D922D	ODZ1_uc011muj.1_Silent_p.D921D|ODZ1_uc010nqy.2_Silent_p.D922D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	922	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	124028174	124028174	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:124028174T>G	uc004euj.2	-	3	570	c.506A>C	c.(505-507)GAC>GCC	p.D169A	ODZ1_uc011muj.1_Missense_Mutation_p.D169A|ODZ1_uc010nqy.2_Missense_Mutation_p.D169A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	169	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125298619G>A	uc004euk.1	-	1	1316	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299369	125299369	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299369G>T	uc004euk.1	-	1	566	c.539C>A	c.(538-540)CCC>CAC	p.P180H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	180	WD 1.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299872	125299872	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299872T>G	uc004euk.1	-	1	63	c.36A>C	c.(34-36)AAA>AAC	p.K12N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	12										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685932	125685932	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685932C>A	uc004eul.2	-	1	911	c.660G>T	c.(658-660)TGG>TGT	p.W220C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4																		---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185200	127185200	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:127185200T>C	uc004eum.2	-	1	1183	c.986A>G	c.(985-987)AAG>AGG	p.K329R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	329						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5																		---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128877956	128877956	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128877956T>C	uc004eut.1	+	3	387	c.143T>C	c.(142-144)GTC>GCC	p.V48A	XPNPEP2_uc011mum.1_Missense_Mutation_p.V48A	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	48					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129041389	129041389	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129041389G>C	uc004euz.2	+	2	101	c.73G>C	c.(73-75)GAC>CAC	p.D25H	UTP14A_uc011mup.1_Missense_Mutation_p.D25H|UTP14A_uc011muq.1_5'UTR	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	25					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147516	129147516	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129147516G>A	uc004evb.1	+	4	882	c.768G>A	c.(766-768)CCG>CCA	p.P256P	BCORL1_uc010nrd.1_Silent_p.P158P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	256	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159025	129159025	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129159025T>C	uc004evb.1	+	7	3863	c.3749T>C	c.(3748-3750)TTC>TCC	p.F1250S	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.F12S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129185849	129185849	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129185849T>G	uc004evb.1	+	12	4825	c.4711T>G	c.(4711-4713)TTT>GTT	p.F1571V	BCORL1_uc004evc.1_Missense_Mutation_p.F407V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1571					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129339307	129339307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129339307G>A	uc004evm.2	-	17	2279	c.2125C>T	c.(2125-2127)CGT>TGT	p.R709C		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129362957	129362957	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129362957A>G	uc004evm.2	-	10	1295	c.1141T>C	c.(1141-1143)TTT>CTT	p.F381L	ZNF280C_uc010nrf.1_Missense_Mutation_p.F381L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129804045	129804045	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129804045C>A	uc004evw.2	-	8	1093	c.675G>T	c.(673-675)GAG>GAT	p.E225D	ENOX2_uc004evx.2_Missense_Mutation_p.E196D|ENOX2_uc004evy.2_Missense_Mutation_p.E196D|ENOX2_uc004evv.2_Missense_Mutation_p.E52D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	225					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130408638	130408638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130408638C>T	uc004ewd.2	-	18	3924	c.3686G>A	c.(3685-3687)CGC>CAC	p.R1229H	IGSF1_uc004ewe.3_Missense_Mutation_p.R1223H|IGSF1_uc004ewf.2_Missense_Mutation_p.R1209H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1229	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130416641	130416641	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130416641T>C	uc004ewd.2	-	7	1261	c.1023A>G	c.(1021-1023)CTA>CTG	p.L341L	IGSF1_uc004ewe.3_Silent_p.L330L|IGSF1_uc004ewf.2_Silent_p.L321L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	341	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131211940	131211940	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131211940T>A	uc004ewn.2	-	12	2283	c.2105A>T	c.(2104-2106)GAC>GTC	p.D702V	FRMD7_uc011muy.1_Missense_Mutation_p.D687V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	702					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
RAP2C	57826	broad.mit.edu	37	X	131348297	131348297	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131348297A>T	uc004ewp.2	-	3	1235	c.451T>A	c.(451-453)TCA>ACA	p.S151T	RAP2C_uc004ewo.2_Missense_Mutation_p.S85T|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.S151T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	151					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160099	132160099	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132160099G>A	uc010nrm.1	-	6	2620	c.2150C>T	c.(2149-2151)ACT>ATT	p.T717I	USP26_uc011mvf.1_Missense_Mutation_p.T717I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	717					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161101	132161101	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132161101G>A	uc010nrm.1	-	6	1618	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	USP26_uc011mvf.1_Missense_Mutation_p.A383V	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MIR450A2	574505	broad.mit.edu	37	X	133674582	133674582	+	RNA	SNP	C	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133674582C>G	hsa-mir-450a-2|MI0003187	-			c.56C>G			MIR450B_hsa-mir-450b|MI0005531_5'Flank|MIR450A1_hsa-mir-450a-1|MI0001652_5'Flank|uc011mvl.1_5'Flank																	0																		---	---	---	---
FAM127C	441518	broad.mit.edu	37	X	134156176	134156176	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134156176A>G	uc004eyc.1	-	1	391	c.314T>C	c.(313-315)TTT>TCT	p.F105S		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	105											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FAM127B	26071	broad.mit.edu	37	X	134186058	134186058	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134186058A>G	uc004eyf.2	-	1	164	c.81T>C	c.(79-81)ATT>ATC	p.I27I	FAM127B_uc004eyg.3_Silent_p.I27I	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	27											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZNF75D	7626	broad.mit.edu	37	X	134426266	134426266	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134426266A>G	uc004eyp.2	-	4	3200	c.545T>C	c.(544-546)GTA>GCA	p.V182A	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134680680	134680680	+	Silent	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134680680T>A	uc004eyw.3	+	5	846	c.483T>A	c.(481-483)CCT>CCA	p.P161P		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	161	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134988582	134988582	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134988582C>T	uc004ezh.2	+	7	775	c.608C>T	c.(607-609)ACT>ATT	p.T203I	SAGE1_uc010nry.1_Missense_Mutation_p.T172I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135047292	135047292	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135047292C>T	uc004ezi.1	-	4	587	c.287G>A	c.(286-288)CGT>CAT	p.R96H	MMGT1_uc011mvw.1_Missense_Mutation_p.R161H	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	96	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0																		---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135308164	135308164	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135308164G>A	uc004ezt.2	-	13	2134	c.2043C>T	c.(2041-2043)GAC>GAT	p.D681D	MAP7D3_uc004ezs.2_Silent_p.D645D|MAP7D3_uc011mwc.1_Silent_p.D663D|MAP7D3_uc010nsa.1_Silent_p.D639D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	681						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135405392C>T	uc004ezu.1	+	5	817	c.526C>T	c.(526-528)CGT>TGT	p.R176C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135427956	135427956	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135427956C>T	uc004ezu.1	+	6	2382	c.2091C>T	c.(2089-2091)TCC>TCT	p.S697S	GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	697	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429100	135429100	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135429100C>T	uc004ezu.1	+	6	3526	c.3235C>T	c.(3235-3237)CCT>TCT	p.P1079S	GPR112_uc010nsb.1_Missense_Mutation_p.P874S|GPR112_uc010nsc.1_Missense_Mutation_p.P846S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1079	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430773	135430773	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135430773A>G	uc004ezu.1	+	6	5199	c.4908A>G	c.(4906-4908)GCA>GCG	p.A1636A	GPR112_uc010nsb.1_Silent_p.A1431A|GPR112_uc010nsc.1_Silent_p.A1403A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1636	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135482127	135482127	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135482127T>A	uc004ezu.1	+	21	8718	c.8427T>A	c.(8425-8427)TGT>TGA	p.C2809*	GPR112_uc010nsb.1_Nonsense_Mutation_p.C2604*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2809	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593206	135593206	+	Silent	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135593206A>T	uc004ezw.2	+	10	1724	c.1302A>T	c.(1300-1302)ACA>ACT	p.T434T	HTATSF1_uc004ezx.2_Silent_p.T434T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	434	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135594180	135594180	+	3'UTR	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135594180A>G	uc004ezw.2	+	10					HTATSF1_uc004ezx.2_3'UTR	NM_001163280	NP_001156752			HIV-1 Tat specific factor 1						regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
VGLL1	51442	broad.mit.edu	37	X	135631112	135631112	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135631112C>T	uc004ezy.2	+	3	749	c.579C>T	c.(577-579)GGC>GGT	p.G193G	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135732555	135732555	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135732555A>G	uc004faa.2	+	2	359	c.287A>G	c.(286-288)AAG>AGG	p.K96R	CD40LG_uc010nsd.2_Missense_Mutation_p.K96R|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	96	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)									Immune_Deficiency_with_Hyper-IgM				---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135760126	135760126	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135760126T>A	uc004fab.2	-						ARHGEF6_uc011mwd.1_Intron|ARHGEF6_uc011mwe.1_Intron	NM_004840	NP_004831			Rac/Cdc42 guanine nucleotide exchange factor 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136651095	136651095	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136651095T>C	uc004fak.2	+	2	1600	c.1095T>C	c.(1093-1095)TGT>TGC	p.C365C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	365	C2H2-type 4.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138697061	138697061	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138697061G>A	uc004fau.2	-	10	1636	c.1342C>T	c.(1342-1344)CCA>TCA	p.P448S	MCF2_uc004fav.2_Missense_Mutation_p.P448S|MCF2_uc011mwl.1_Missense_Mutation_p.P409S|MCF2_uc010nsh.1_Missense_Mutation_p.P448S|MCF2_uc011mwm.1_Missense_Mutation_p.P409S|MCF2_uc011mwn.1_Missense_Mutation_p.P593S|MCF2_uc004faw.2_Missense_Mutation_p.P508S|MCF2_uc011mwo.1_Missense_Mutation_p.P508S	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	448					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138713569	138713569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138713569C>T	uc004fau.2	-	3	567	c.273G>A	c.(271-273)TGG>TGA	p.W91*	MCF2_uc004fav.2_Nonsense_Mutation_p.W91*|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Nonsense_Mutation_p.W91*|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Nonsense_Mutation_p.W236*|MCF2_uc004faw.2_Nonsense_Mutation_p.W151*|MCF2_uc011mwo.1_Nonsense_Mutation_p.W151*	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138840024	138840024	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138840024G>T	uc004faz.2	-	23	2751	c.2652C>A	c.(2650-2652)AAC>AAA	p.N884K	ATP11C_uc004fax.2_Missense_Mutation_p.N92K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.N884K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	884	Helical; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038105	139038105	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139038105A>G	uc004fbb.2	-	3	1058	c.1036T>C	c.(1036-1038)TGT>CGT	p.C346R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	346	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586639	139586639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139586639C>T	uc004fbd.1	-	1	587	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
SPANXE	171489	broad.mit.edu	37	X	140785771	140785771	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140785771T>A	uc004fbq.2	-	2	238	c.145A>T	c.(145-147)ACC>TCC	p.T49S		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	49						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)																	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969268	140969268	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140969268T>C	uc011mwp.1	+	4	595	c.595T>C	c.(595-597)TAT>CAT	p.Y199H		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	199	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995836	140995836	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995836A>G	uc004fbt.2	+	4	2932	c.2646A>G	c.(2644-2646)TCA>TCG	p.S882S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	882							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967329	142967329	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142967329T>A	uc004fca.2	+	1	157	c.127T>A	c.(127-129)TCA>ACA	p.S43T		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	43							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MIR513B	100302253	broad.mit.edu	37	X	146280611	146280611	+	RNA	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146280611A>G	hsa-mir-513b|MI0006648	-			c.35A>G																				0																		---	---	---	---
MIR506	574511	broad.mit.edu	37	X	146312238	146312238	+	RNA	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146312238G>A	hsa-mir-506|MI0003193	-			c.124G>A																				0																		---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147027084	147027084	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147027084G>A	uc010nst.2	+	16	1874	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	FMR1_uc004fcj.2_Missense_Mutation_p.R539H|FMR1_uc004fck.3_Missense_Mutation_p.R516H|FMR1_uc004fcl.3_Missense_Mutation_p.R402H|FMR1_uc011mxa.1_Missense_Mutation_p.R209H	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	562	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037982	148037982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037982G>A	uc004fcp.2	+	11	2886	c.2407G>A	c.(2407-2409)GTG>ATG	p.V803M	AFF2_uc004fcq.2_Missense_Mutation_p.V793M|AFF2_uc004fcr.2_Missense_Mutation_p.V764M|AFF2_uc011mxb.1_Missense_Mutation_p.V768M|AFF2_uc004fcs.2_Missense_Mutation_p.V770M|AFF2_uc011mxc.1_Missense_Mutation_p.V444M	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	803					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148068943	148068943	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148068943G>A	uc004fcp.2	+	20	4149	c.3670G>A	c.(3670-3672)GCA>ACA	p.A1224T	AFF2_uc004fcq.2_Missense_Mutation_p.A1214T|AFF2_uc004fcr.2_Missense_Mutation_p.A1185T|AFF2_uc011mxb.1_Missense_Mutation_p.A1189T|AFF2_uc004fcs.2_Missense_Mutation_p.A1189T|AFF2_uc011mxc.1_Missense_Mutation_p.A865T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1224					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148072815	148072815	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148072815G>A	uc004fcp.2	+	21	4368	c.3889G>A	c.(3889-3891)GTT>ATT	p.V1297I	AFF2_uc004fcq.2_Missense_Mutation_p.V1287I|AFF2_uc004fcr.2_Missense_Mutation_p.V1258I|AFF2_uc011mxb.1_Missense_Mutation_p.V1262I|AFF2_uc004fcs.2_Missense_Mutation_p.V1262I|AFF2_uc011mxc.1_Missense_Mutation_p.V938I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1297					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148690318	148690318	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148690318A>G	uc011mxq.1	-	4	730	c.419T>C	c.(418-420)CTA>CCA	p.L140P	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.L81P|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.L57P	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	140						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148796244	148796244	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148796244A>G	uc004fdq.2	+						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron	NM_005366	NP_005357			melanoma antigen family A, 11 isoform a							cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797265	148797265	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148797265T>G	uc004fdq.2	+	4	296	c.194T>G	c.(193-195)GTT>GGT	p.V65G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V36G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	65						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149631037	149631037	+	Splice_Site	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149631037G>T	uc004fee.1	+	2	173	c.97_splice	c.e2-1	p.G33_splice	MAMLD1_uc011mxt.1_Splice_Site|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron	NM_005491	NP_005482			mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638867	149638867	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149638867G>T	uc004fee.1	+	3	1098	c.1022G>T	c.(1021-1023)CGC>CTC	p.R341L	MAMLD1_uc011mxt.1_Missense_Mutation_p.R303L|MAMLD1_uc011mxu.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxv.1_Missense_Mutation_p.R316L|MAMLD1_uc011mxw.1_Missense_Mutation_p.R268L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	341					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTM1	4534	broad.mit.edu	37	X	149814303	149814303	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149814303A>G	uc004fef.3	+	9	902	c.826A>G	c.(826-828)ATT>GTT	p.I276V	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.I239V|MTM1_uc011mxz.1_Missense_Mutation_p.I161V|MTM1_uc010nte.2_Missense_Mutation_p.I144V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	276	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149898689	149898689	+	Intron	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149898689A>G	uc004fei.2	+						MTMR1_uc011mya.1_Intron|MTMR1_uc004feg.1_Intron|MTMR1_uc004feh.1_Intron|MTMR1_uc004fej.2_Intron|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819			myotubularin-related protein 1							plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149905205	149905205	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149905205C>T	uc004fei.2	+	10	1330	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W	MTMR1_uc011mya.1_Missense_Mutation_p.R305W|MTMR1_uc004feh.1_Missense_Mutation_p.R407W|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	399	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869432	150869432	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150869432C>T	uc004few.1	+	4	1013	c.623C>T	c.(622-624)GCC>GTC	p.A208V		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	208	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150907014	150907014	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150907014C>T	uc004fey.1	+	2	283	c.59C>T	c.(58-60)GCA>GTA	p.A20V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	20	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911846	150911846	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911846T>C	uc004fey.1	+	7	1095	c.871T>C	c.(871-873)TGC>CGC	p.C291R		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	291	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092384	151092384	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092384A>G	uc004fez.2	+	3	404	c.248A>G	c.(247-249)CAA>CGA	p.Q83R	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q83R|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q83R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	83							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303862	151303862	+	Silent	SNP	A	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151303862A>G	uc004ffk.2	-	5	639	c.231T>C	c.(229-231)GAT>GAC	p.D77D	MAGEA10_uc004ffl.2_Silent_p.D77D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	77											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151366166	151366166	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151366166G>A	uc010ntk.1	-	8	1110	c.870C>T	c.(868-870)GTC>GTT	p.V290V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	290	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900642	151900642	+	Silent	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151900642C>A	uc010ntp.2	-	3	513	c.159G>T	c.(157-159)GTG>GTT	p.V53V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.V53V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	53										skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
CETN2	1069	broad.mit.edu	37	X	151997191	151997191	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151997191G>T	uc004fgq.2	-	4	366	c.319C>A	c.(319-321)CTG>ATG	p.L107M	CETN2_uc004fgr.2_Missense_Mutation_p.L36M|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	107	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)												Direct_reversal_of_damage|NER					---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152018925	152018925	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152018925T>A	uc004fgt.1	+	4	486	c.225T>A	c.(223-225)AAT>AAA	p.N75K	NSDHL_uc004fgs.1_Missense_Mutation_p.N75K	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	75					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)													---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152128250	152128250	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152128250A>T	uc010ntv.1	+	17	1451	c.1414A>T	c.(1414-1416)ACT>TCT	p.T472S	ZNF185_uc011myg.1_Missense_Mutation_p.T504S|ZNF185_uc011myh.1_Missense_Mutation_p.T475S|ZNF185_uc011myi.1_Missense_Mutation_p.T443S|ZNF185_uc011myj.1_Missense_Mutation_p.T413S|ZNF185_uc011myk.1_Missense_Mutation_p.T473S|ZNF185_uc004fgw.3_Missense_Mutation_p.T251S|ZNF185_uc004fgu.2_Missense_Mutation_p.T101S|ZNF185_uc004fgv.2_Missense_Mutation_p.T169S|ZNF185_uc004fgx.2_Missense_Mutation_p.T110S	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	472						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152814246	152814246	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152814246G>A	uc004fht.1	+	8	1398	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	ATP2B3_uc004fhs.1_Silent_p.V424V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	424	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152821585	152821585	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152821585C>T	uc004fht.1	+	12	2263	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	713	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152835151	152835151	+	Intron	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152835151A>C	uc004fht.1	+						ATP2B3_uc004fhs.1_Missense_Mutation_p.T1145P|ATP2B3_uc010nuf.1_Missense_Mutation_p.T168P|ATP2B3_uc004fhu.1_Intron	NM_001001344	NP_001001344			plasma membrane calcium ATPase 3 isoform 3b						ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SLC6A8	6535	broad.mit.edu	37	X	152958731	152958731	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152958731C>T	uc004fib.3	+	6	1204	c.926C>T	c.(925-927)GCG>GTG	p.A309V	SLC6A8_uc004fic.3_Missense_Mutation_p.A309V|SLC6A8_uc011myx.1_Missense_Mutation_p.A194V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	309	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)													---	---	---	---
ABCD1	215	broad.mit.edu	37	X	152991452	152991452	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152991452C>T	uc004fif.2	+	1	1130	c.731C>T	c.(730-732)TCG>TTG	p.S244L	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	244	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153095697	153095697	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153095697C>T	uc004fiz.1	-	1	307	c.57G>A	c.(55-57)CTG>CTA	p.L19L	PDZD4_uc004fiy.1_5'Flank|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.L19L|PDZD4_uc011mze.1_Silent_p.L19L	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	19						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153132191	153132191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153132191C>T	uc004fjb.2	-	18	2452	c.2344G>A	c.(2344-2346)GTG>ATG	p.V782M	L1CAM_uc004fjc.2_Missense_Mutation_p.V782M|L1CAM_uc010nuo.2_Missense_Mutation_p.V777M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	782	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153133891	153133891	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153133891C>T	uc004fjb.2	-	13	1677	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	L1CAM_uc004fjc.2_Silent_p.G523G|L1CAM_uc010nuo.2_Silent_p.G518G|L1CAM_uc004fjd.1_Silent_p.G337G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	523	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153136295	153136295	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153136295C>A	uc004fjb.2	-	6	752	c.644G>T	c.(643-645)GGC>GTC	p.G215V	L1CAM_uc004fjc.2_Missense_Mutation_p.G215V|L1CAM_uc010nuo.2_Missense_Mutation_p.G210V|L1CAM_uc004fjd.1_Missense_Mutation_p.G29V|L1CAM_uc004fje.1_Missense_Mutation_p.G210V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	215	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171979	153171979	+	Missense_Mutation	SNP	G	A	A	rs145953185	byFrequency	TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171979G>A	uc004fjh.3	+	3	984	c.913G>A	c.(913-915)GCG>ACG	p.A305T	AVPR2_uc004fjg.3_Missense_Mutation_p.A94T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171981	153171981	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171981G>A	uc004fjh.3	+	3	986	c.915G>A	c.(913-915)GCG>GCA	p.A305A	AVPR2_uc004fjg.3_Silent_p.A94A|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	305	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209857	153209857	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153209857T>G	uc004fjo.1	-	2	211	c.41A>C	c.(40-42)GAG>GCG	p.E14A	RENBP_uc011mzh.1_Missense_Mutation_p.E14A|RENBP_uc011mzi.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	14					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153295906	153295906	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153295906C>T	uc004fjv.2	-	4	1599	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MECP2_uc004fjw.2_Missense_Mutation_p.R470H	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	458					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153298000	153298000	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153298000T>C	uc004fjv.2	-	3	261	c.35A>G	c.(34-36)AAG>AGG	p.K12R	MECP2_uc004fjw.2_Missense_Mutation_p.K24R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	12					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153533696	153533696	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153533696G>A	uc004fkg.2	+	2	361	c.175G>A	c.(175-177)GTG>ATG	p.V59M	TKTL1_uc011mzl.1_Missense_Mutation_p.V53M|TKTL1_uc011mzm.1_Missense_Mutation_p.V59M|TKTL1_uc004fkh.2_Missense_Mutation_p.V3M	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	59					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153579955	153579955	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153579955G>A	uc004fkk.2	-	43	7266	c.7017C>T	c.(7015-7017)AGC>AGT	p.S2339S	FLNA_uc004fki.2_Silent_p.S382S|FLNA_uc011mzn.1_Silent_p.S472S|FLNA_uc010nuu.1_Silent_p.S2331S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2339	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153626864	153626864	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153626864G>A	uc004fkm.2	+	2	192	c.4G>A	c.(4-6)GGC>AGC	p.G2S	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.G2S|RPL10_uc004fkn.1_Missense_Mutation_p.G2S|RPL10_uc004fkp.1_Missense_Mutation_p.G2S|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153696426	153696426	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153696426T>C	uc004flm.2	+	22	3995	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1274	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153699468	153699468	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153699468T>C	uc004flm.2	+	31	5350	c.5177T>C	c.(5176-5178)GTG>GCG	p.V1726A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1726	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
SLC10A3	8273	broad.mit.edu	37	X	153717218	153717218	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153717218C>T	uc004flq.2	-	3	326	c.62G>A	c.(61-63)GGT>GAT	p.G21D	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.G21D|SLC10A3_uc004flp.2_Missense_Mutation_p.G21D	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	21					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153940895	153940895	+	Silent	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153940895G>A	uc004fmj.1	-	4	723	c.675C>T	c.(673-675)TGC>TGT	p.C225C	GAB3_uc004fmk.1_Silent_p.C226C|GAB3_uc010nve.1_Silent_p.C226C|GAB3_uc004fml.1_Intron	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	225										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153941521	153941521	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153941521A>C	uc004fmj.1	-	3	602	c.554T>G	c.(553-555)GTT>GGT	p.V185G	GAB3_uc004fmk.1_Missense_Mutation_p.V186G|GAB3_uc010nve.1_Missense_Mutation_p.V186G|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	185										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	154003323	154003323	+	Intron	SNP	T	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154003323T>A	uc004fmm.2	+						DKC1_uc010nvf.2_Intron|SNORA56_uc004fmo.2_RNA	NM_001363	NP_001354			dyskerin isoform 1						cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													Congenital_Dyskeratosis				---	---	---	---
MPP1	4354	broad.mit.edu	37	X	154009926	154009926	+	Silent	SNP	C	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154009926C>T	uc004fmp.1	-	10	1213	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	MPP1_uc010nvg.1_Silent_p.V346V|MPP1_uc011mzv.1_Silent_p.V336V|MPP1_uc004fmq.1_Silent_p.V320V|MPP1_uc011mzw.1_Silent_p.V349V	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	366	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
F8	2157	broad.mit.edu	37	X	154130417	154130417	+	Silent	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154130417T>C	uc004fmt.2	-	19	6195	c.6024A>G	c.(6022-6024)TTA>TTG	p.L2008L	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2008	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154157568	154157568	+	Silent	SNP	G	T	T			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154157568G>T	uc004fmt.2	-	14	4668	c.4497C>A	c.(4495-4497)CTC>CTA	p.L1499L		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1499	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
F8	2157	broad.mit.edu	37	X	154158736	154158736	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154158736T>G	uc004fmt.2	-	14	3500	c.3329A>C	c.(3328-3330)AAT>ACT	p.N1110T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1110	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
VBP1	7411	broad.mit.edu	37	X	154448586	154448586	+	Splice_Site	SNP	T	C	C			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154448586T>C	uc004fnc.2	+	2	277	c.218_splice	c.e2+2	p.R73_splice	VBP1_uc004fnd.2_Splice_Site_p.R36_splice	NM_003372	NP_003363			von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154741379	154741379	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6452-01	TCGA-BR-6452-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154741379G>A	uc004fnn.2	-	5	879	c.713C>T	c.(712-714)GCT>GTT	p.A238V	TMLHE_uc004fno.2_Missense_Mutation_p.A238V|TMLHE_uc004fnp.3_Missense_Mutation_p.A238V	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	238					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
